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Bioinformatically detectable group of novel regulatory genes and uses thereof

BIBLIOGRAPHY
[009413]1.Mercken, M.; Takahashi, H.; Honda, T.; Sato, K.; Murayama, M.; Nakazato, Y.; Noguchi, K.; Imahori, K.; Takashima, A.: Characterization of human presenilin 1 using N-terminal specific monoclonal antibodies:evidence that Alzheimer mutations affect proteolytic processing. FEBS Lett. 389: 297-303, 1996.
[009414]2.Davies, A. F.; Mirza, G.; Flinter, F.; Ragoussis, J.: An interstitial deletion of 6p24-p25 proximal to the FKHL7 locus and including AP-2-alpha that affects anterior eye chamber development. J. Med. Genet. 36:708-710, 1999.
[009415]3.Sen Gupta, B.; Friedberg, F.; Detera-Wadleigh, S. D.: Molecular analysis of human and rat calmodulin complementary DNA clones: evidence for additional active genes in these species. J. Biol. Chem. 262: 16663-16670, 1987.
[009416]4.Fishman, G. I.; Moreno, A. P.; Spray, D. C.; Leinwand, L. A.: Functional analysis of human cardiac gap junction channel mutants. Proc. Nat. Acad. Sci. 88: 3525-3529, 1991.
[009417]5.Hassett, C.; Aicher, L.; Sidhu, J. S.; Omiecinski, C. J.: Human microsomal epoxide hydrolase: genetic polymorphism and functional expression in vitro of amino acid variants. Hum. Molec. Genet. 3: 421-428, 1994.
[009418]6.Henry, I.; Uzan, G.; Weil, D.; Nicolas, H.; Kaplan, J. C.; Marguerie, C.; Kahn, A.; Junien, C.: The genes coding for A-alpha-, B-beta-, and gamma-chains of fibrinogen map to 4q2. Am. J. Hum. Genet. 36: 760-768, 1984.
[009419]7.Sheng, Y.; Herzog, H.; Krilis, S. A.: Cloning and characterization of the gene encoding the mouse beta-2-glycoprotein I. Genomics 41: 128-130, 1997.
[009420]8.Fields, S.; Jang, S. K.: Presence of a potent transcription activating sequence in the p53 protein. Science 249: 1046-1049, 1990.
[009421]9.Firestein, G. S.; Echeverri, F.; Yeao, M.; Zvaifler, N. J.; Green, D. R.: Somatic mutations in the p53 tumor suppressor gene in rheumatoid arthritis synovium. Proc. Nat. Acad. Sci. 94: 10895-10900, 1997.
[009422]10.Foster, B. A.; Coffey, H. A.; Morin, M. J.; Rastinejad, F.: Pharmacological rescue of mutant p53 conformation and function. Science 286: 2507-2510, 1999.
[009423]11.Collod-Beroud, G.; Beroud, C.; Ades, L.; Black, C.; Boxer, M.;Brock, D. J. H.; Holman, K. J.; de Paepe, A.; Francke, U.; Grau, U.; Hayward, C.; Klein, H.-G.; Liu, W.; Nuytinck, L.; Peltonen, L.; Alvarez Perez, A. B.; Rantamaki, T.; Junien, C.; Boileau, C.: Marfan database (third edition): new mutations and new routines for the software. Nucleic Acids Res. 26: 229-233, 1998.
[009424]12.Buckway, C. K.; Wilson, E. M.; Ahlsen, M.; Bang, P.; Oh, Y.; Rosenfeld,R. G.: Mutation of three critical amino acids of the N-terminal domain of IGF-binding protein-3 essential for high affinity IGF binding. J. Clin. Endocr. Metab. 86: 4943-4950, 2001.
[009425]13.Vestergaard, P.; Hermann, A.P.; Orskov, H.; Mosekilde, L.; The Danish Osteoporosis Prevention Study: Effect of sex hormone replacement on the insulin-like growth factor system and bone mineral: a cross-sectional and longitudinal study in 595 perimenopausal women participating in the Danish osteoporosis prevention study. J. Clin. Endocr. Metab. 84: 2286-2290, 1999.
[009426]14.Holm, C.; Kirchgessner, T. G.; Svenson, K. L.; Fredrikson, G.; Nilsson, S.; Miller, C. G.; Shively, J. E.; Heinzmann, C.; Sparkes, R. S.; Mohandas, T.; Lusis, A. J.; Belfrage, P.; Schotz, M. C.: Hormone-sensitive lipase: sequence, expression, and chromosomal localization to 19cent-q13.3. Science 241: 1503-1506, 1988.
[009427]15.Gilgenkrantz, S.; Vigneron, C.; Gregoire, M. J.; Pernot, C.; Raspiller, A.: Association of del (11) (p15.1p12), aniridia, catalase deficiency, and cardiomyopathy. Am. J. Med. Genet. 13: 39-49, 1982.
[009428]16.Sander, M.; Chavoshan, B.; Harris, S. A.; Iannaccone, S. T.; Stull, J. T.; Thomas, G. D.; Victor, R. G.: Functional muscle ischemia in neuronal nitric oxide synthase-deficient skeletal muscle of children with Duchenne muscular dystrophy. Proc. Nat. Acad. Sci. 97: 13818-13823, 2000.
[009429]17.Li, P.; Wood, K.; Mamon, H.; Haser, W.; Roberts, T.: Raf-1: a kinase currently without a cause but not lacking in effects. Cell 64: 479-482, 1991.
[009430]18.Eiberg, H.; Mohr, J.; Schmiegelow, K.; Nielsen, L. S.; Williamson, R.: Linkage relationships of paraoxonase (PON) with other markers: indication of PON-cystic fibrosis synteny. Clin. Genet. 28: 265-271, 1985.
[009431]19.Berger, J.; Garattini, E.; Hua, J.-C.; Udenfriend, S.: Cloning and sequencing of human intestinal alkaline phosphatase cDNA. Proc. Nat. Acad. Sci. 84: 695-698, 1987.
[009432]20.Nilsson, I. M.; Tengborn, L.: Impaired fibrinolysis: new evidence in relation to thrombosis.In: Jespersen, J.; Kluft, C.; Korsgaard, O.: Clinical Aspects of Fibrinolysis and Thrombolysis. Esbjerg: South Jutland Univ. Press (pub.) 1983. Pp. 273-291.
[009433]21.Dihlmann, S.; Gebert, J.; Siermann, A.; Herfarth, C.; von KnebelDoeberitz, M.: Dominant negative effect of the APC(1309) mutation: a possible explanation for genotype-phenotype correlations in familial adenomatous polyposis. Cancer Res. 59: 1857-1860, 1999.
[009434]22.Foster, P. L.; Eisenstadt, E.; Miller, J. H.: Base substitution mutations induced by metabolically activated aflatoxin B1. Proc. Nat. Acad. Sci. 80: 2695-2698, 1983.
[009435]23.Franklin, W. A.; Gazdar, A. F.; Haney, J.; Wistuba, I. I.; La Rosa, F. G.; Kennedy, T.; Ritchey, D. M.; Miller, Y. E.: Widely dispersed p53 mutation in respiratory epithelium: a novel mechanism for field carcinogenesis. J. Clin. Invest. 100: 2133-2137, 1997.
[009436]24.Frebourg, T.; Friend, S. H.: Cancer risks from germline P53 mutations. J. Clin. Invest. 90: 1637-1641, 1992.
[009437]25.Frebourg, T.; Kassel, J.; Lam, K. T.; Gryka, M. A.; Barbier, N.; Andersen, T. I.; Borresen, A.-L.; Friend, S. H.: Germ-line mutations of the p53 tumor suppressor gene in patients with high risk for cancer inactivate the p53 protein. Proc. Nat. Acad. Sci. 89: 6413-6417, 1992.
[009438]26.Fagin, J. A.; Matsuo, K.; Karmakar, A.; Chen, D. L.; Tang, S.-H.; Koeffler, H. P.: High prevalence of mutations of the p53 gene in poorly differentiated human thyroid carcinomas. J. Clin. Invest. 91: 179-184, 1993.
[009439]27.Farmer, G.; Bargonetti, J.; Zhu, H.; Friedman, P.; Prywes, R.; Prives, C.: Wild-type p53 activates transcription in vitro. Nature 358: 83-86, 1992.
[009440]28.Felix, C. A.; D'Amico, D.; Mitsudomi, T.; Nau, M. M.; Li, F. P.; Fraumeni, J. F., Jr.; Cole, D. E.; McCalla, J.; Reaman, G. H.; Whang-Peng, J.; Knutsen, T.; Minna, J. D.; Poplack, D. G.: Absence of hereditary p53 mutations in 10 familial leukemia pedigrees. J. Clin. Invest. 90: 653-658, 1992.
[009441]29.Felix, C. A.; Nau, M. M.; Takahashi, T.; Mitsudomi, T.; Chiba, I.; Poplack, D. G.; Reaman, G. H.; Cole, D. E.; Letterio, J. J.; Whang-Peng, J.; Knutsen, T.; Minna, J. D.: Hereditary and acquired p53 gene mutations in childhood acute lymphoblastic leukemia. J. Clin. Invest. 89: 640-647, 1992.
[009442]30.Fukasawa, K.; Choi, T.; Kuriyama, R.; Rulong, S.; Vande Woude, G. F.: Abnormal centrosome amplification in the absence of p53. Science 271: 1744-1747, 1996.
[009443]31.Gao, Y.; Ferguson, D. O.; Xie, W.; Manis, J. P.; Sekiguchi, J.; Frank, K. M.; Chaudhuri, J.; Horner, J.; DePinho, R. A.; Alt, F. W: Interplay of p53 and DNA-repair protein XRCC4 in tumorigenesis, genomic stability and development. Nature 404: 897-900, 2000.
[009444]32.Gu, J.; Kawai, H.; Wiederschain, D.; Yuan, Z.-M.: Mechanism offunctional inactivation of a Li-Fraumeni syndrome p53 that has a mutation outside of the DNA-binding domain. Cancer Res. 61: 1741-1746, 2001.
[009445]33.Guran, S.; Tunca, Y.; Imirzalioglu, N.: Hereditary TP53 codon 292 and somatic P16 (INK4A) codon 94 mutations in a Li-Fraumeni syndrome family. Cancer Genet. Cytogenet. 113: 145-151, 1999.
[009446]34.Hainaut, P.; Soussi, T.; Shomer, B.; Hollstein, M.; Greenblatt, M.; Hovig, E.; Harris, C. C.; Montesano, R.: Database of p53 gene somatic mutations in human tumors and cell lines: updated compilation and future prospects. Nucleic Acids Res. 25: 151-157, 1997.
[009447]35.Halevy, O.; Michalovitz, D.; Oren, M.: Different tumor-derived p53 mutants exhibit distinct biological activities. Science 250: 113-116, 1990.
[009448]36.Harlow, E.; Williamson, N. M.; Ralston, R.; Helfman, D. M.; Adams, T. E.: Molecular cloning and in vitro expression of a cDNA clone for human cellular tumor antigen p53. Molec. Cell. Biol. 5: 1601-1610, 1985.
[009449]37.Harper, J. W.; Adami, G. R.; Wei, N.; Keyomarsi, K.; Elledge, S. J.: The p21 Cdkinteracting protein Cip1 is a potent inhibitor of G1 cyclin-dependent kinases. Cell 75: 805-816, 1993.
[009450]38.Harris, C. C.: p53: at the crossroads of molecular carcinogenesis and risk assessment. Science 262: 1980-1981, 1993.
[009451]39.Harris, C. C.; Hollstein, M.: Clinical implications of the p53 tumor-suppressor gene. New Eng. J. Med. 329: 1318-1327, 1993.
[009452]40.Hernandez-Boussard, T.; Rodriguez-Tome, P.; Montesano, R.; Hainaut, P: IARC p53 mutation database: a relational database to compile and analyze p53 mutations in human tumors and cell lines. Hum. Mutat. 14: 1-8, 1999.
[009453]41.Herrmann, M. A.; Hay, I. D.; Bartelt, D. H.; Ritland, S. R., Jr.; Dahl, R. J.; Grant, C. S.; Jenkins, R. B.: Cytogenetic and molecular genetic studies of follicular and papillary thyroid cancers. J. Clin. Invest. 88: 1596-1604, 1991.
[009454]42.Hirao, A.; Kong, Y.-Y.; Matsuoka, S.; Wakeham, A.; Ruland, J.; Yoshida, H.; Liu, D.; Elledge, S. J.; Mak, T. W.: DNA damage-induced activation of p53 by the checkpoint kinase Chk2. Science 287: 1824-1827, 2000.
[009455]43.Hollstein, M.; Shomer, B.; Greenblatt, M.; Soussi, T.; Hovig, E.; Montesano, R.; Harris, C. C.: Somatic point mutations in the p53 gene of human tumors and cell lines: updated compilation. Nucleic Acids Res. 24: 141-146, 1996.
[009456]44.Hollstein, M.; Sidransky, D.; Vogelstein, B.; Harris, C. C.: p53 mutations in human cancers. Science 253: 49-53, 1991.
[009457]45.Hollstein, M. C.; Metcalf, R. A.; Welsh, J. A.; Montesano, R.; Harris, C. C.: Frequent mutation of the p53 gene in human esophageal cancer. Proc. Nat. Acad. Sci. 87: 9958-9961, 1990.
[009458]46.Hsu, I. C.; Metcalf, R. A.; Sun, T.; Welsh, J. A.; Wang, N. J.; Harris, C. C.: Mutational hotspot in the p53 gene in human hepatocellular carcinomas. Nature 350: 427-428, 1991.
[009459]47.Hung, J.; Mims, B.; Lozano, G.; Strong, L.; Harvey, C.; Chen, T. T.-Y.; Stastny, V.; Tomlinson, G.: TP53 mutation and haplotype analysis of two large African American families. Hum. Mutat. 14: 216-221, 1999.
[009460]48.Kaname, T.; Miyauchi, T.; Kuwano, A.; Matsuda, Y.; Muramatsu, T.; Kajii, T.: Mapping basigin (BSG), a member of the immunoglobulin superfamily, to 19p13.3. Cytogenet. Cell Genet. 64: 195-197, 1993.
[009461]49.Kanekura, T.; Miyauchi, T.; Tashiro, M.; Muramatsu, T.: Basigin, a new member of the immunoglobulin superfamily: genes in different mammalian species, glycosylation changes in the molecule from adult organs and possible variation in the N-terminal sequences. Cell Struct. Funct. 16: 23-30, 1991.
[009462]50.Kuno, N.; Kadomatsu, K.; Fan, Q.-W.; Hagihara, M.; Senda, T.; Mizutani, S.; Muramatsu, T.: Female sterility in mice lacking the basigin gene, which encodes a transmembrane glycoprotein belonging to the immunoglobulin superfamily. FEBS Lett. 425: 191-194, 1998.
[009463]51.Miyauchi, T.; Kanekura, T.; Yamaoka, A.; Ozawa, M.; Miyazawa, S.; Muramatsu, T.: Basigin, a new, broadly distributed member of the immunoglobulin superfamily, has strong homology with both the immunoglobulin V domain and the beta-chain of major histocompatibility complex class II antigen. J. Biochem. 107: 316-323, 1990.
[009464]52.Miyauchi, T.; Masuzawa, Y.; Muramatsu, T.: The basigin group of the immunoglobulin superfamily: complete conservation of a segment in and around transmembrane domains of human and mouse basigin and chicken HT7 antigen. J. Biochem. 110: 770-774, 1991.
[009465]53.Naruhashi, K.; Kadomatsu, K.; Igakura, T.; Fan, Q.-W.; Kuno, N.; Muramatsu, H.; Miyauchi, T.; Hasegawa, T.; Itoh, A.; Muramatsu, T.; Nabeshima, T.: Abnormalities of sensory and memory functions in mice lacking Bsg gene. Biochem. Biophsy. Res. Commun. 236: 733-737, 1997.
[009466]54.Snyder, F. F.; Lin, C. C.; Rudd, N. L.; Shearer, J. E.; Heikkila, E. M.; Hoo, J. J.: A de novo case of trisomy 10p: gene dosage studies of hexokinase, inorganic pyrophosphatase and adenosine kinase. Hum. Genet. 67: 187-189, 1984.
[009467]55.Abe, M.; Higuchi, I.; Morisaki, H.; Morisaki, T.; Osame, M.: Myoadenylate deaminase deficiency with progressive muscle weakness and atrophy caused by new missense mutations in AMPD1 gene: case report in a Japanese patient. Neuromusc. Disord. 10: 472-477, 2000.
[009468]56.Fishbein, W. N.: Myoadenylate deaminase deficiency: inherited and acquired forms. Biochem. Med. 33: 158-169, 1985.
[009469]57.Patten, J. L.; Smallwood, P. M.; Eil, C.; Johns, D. R.; Valle, D.; Steel, G.; Levine, M. A.: An initiator codon mutation in the gene encoding the alpha subunit of Gs in pseudohypoparathyroidism type IA (PHP IA). (Abstract) Am. J. Hum. Genet. 45 (suppl.): A212 only, 1989.
[009470]58.Yu, S.; Yu, D.; Lee, E.; Eckhaus, M.; Lee, R.; Corria, Z.; Accili, D.; Westphal, H.; Weinstein, L. S.: Variable and tissue-specific hormone resistance in heterotrimeric Gs protein alphasubunit (Gs-alpha) knockout mice is due to tissue-specific imprinting of the Gs-alpha gene. Proc. Nat. Acad. Sci. 95: 8715-8720, 1998.
[009471]59.Abdo, Y.; Rousseaux, J.; Dautrevaux, M.: Proalbumin Lille, a new variant of human serum albumin. FEBS Lett. 131: 286-288, 1981.
[009472]60.Adams, M. S.: Genetic diversity in serum albumin. J. Med. Genet. 3: 198-202, 1966.
[009473]61.Arai, K.; Huss, K.; Madison, J.; Putnam, F. W.; Salzano, F. M.; Franco, M. H. L. P.; Santos, S. E. B.; Freitas, M. J. M.: Amino acid substitutions in albumin variants found in Brazil. Proc. Nat. Acad. Sci. 86: 1821-1825, 1989.
[009474]62.Arai, K.; Ishioka, N.; Huss, K.; Madison, J.; Putnam, F. W.: Identical structural changes in inherited albumin variants from different populations. Proc. Nat. Acad. Sci. 86: 434-438, 1989.
[009475]63.Arai, K.; Madison, J.; Huss, K.; Ishioka, N.; Satoh, C.; Fujita, M.; Neel, J. V.; Sakurabayashi, I.; Putnam, F. W.: Point substitutions in Japanese alloalbumins. Proc. Nat. Acad. Sci. 86: 6092-6096, 1989.
[009476]64.Arai, K.; Madison, J.; Shimizu, A.; Putnam, F. W.: Point substitutions in albumin genetic variants from Asia. Proc. Nat. Acad. Sci. 87: 497-501, 1990.
[009477]65.Arends, T.; Gallango, M. L.; Layrisse, M.; Wilbert, J.; Heinen, H. D.: Albumin Warao: new type of human alloalbuminemia. Blood 33: 414-420, 1969.
[009478]66.Arvan, D.; Blumberg, B.; Melartin, L.: Transient bisalbuminemia induced by drugs. Clin. Chim. Acta 22: 211-218, 1968.
[009479]67.Au, H. Y. N.; Brand, S.; Hutchinson, D. W.; Matejtschuk, P.: Albumins Warwick 1 and Warwick 2, two human albumin variants. IRCS Med. Sci. 12: 56-57, 1984.
[009480]68.Barlow, J. W.; Csicsmann, J. M.; Meinhold, H.; Lim, C.-F.; Stockigt, J. R.: Familial dysalbuminaemic hyperthyroxinaemia: studies of albumin binding and implications for hormone action. Clin. Endocr. 24: 39-47, 1986.
[009481]69.Barlow, J. W.; Csicsmann, J. M.; White, E. L.; Funder, J. W.; Stockigt, J. R.: Familial euthyroid thyroxine excess: characterization of abnormal intermediate affinity thyroxine binding to albumin. J. Clin. Endocr. Metab. 55: 244-250, 1982.
[009482]70.Fishbein, W. N.; Armbrustmacher, V. W.; Griffin, J. L.: Myo-adenylate deaminase deficiency: a new disease of muscle. Science 200: 545-548, 1978.
[009483]71.Bennhold, H.; Kallee, E.: Comparative studies on the half-life of I(131) labelled albumins and nonradioactive human serum albumin in a case of analbuminemia. J. Clin. Invest. 38: 863-872, 1959.
[009484]72.St. George-Hyslop, P. H.; Tanzi, R. E.; Polinsky, R. J.; Haines, J. L.; Nee, L.; Watkins, P. C.; Myers, R. H.; Feldman, R. G.; Pollen, D.; Drachman, D.; Growdon, J.; Bruni, A.; Foncin, J.-F.; Salmon, D.; Frommelt, P.; Amaducci, L.; Sorbi, S.; Piacentini, S.; Stewart, G. D.; Hobbs, W. J.; Conneally, P. M.; Gusella, J. F.: The genetic defect causing familial Alzheimer's disease maps on chromosome 21. Science 235: 885-890, 1987.
[009485]73.Shozu, M.; Akasofu, K.; Harada, T.; Kubota, Y.: A new cause of female pseudohermaphroditism: placental aromatase deficiency. J. Clin. Endocr. Metab. 72: 560-566, 1991.
[009486]74.Hadley, T.; Saul, A.; Lamont, G.; Hudson, D. E.; Miller, L. H.; Kidson, C.: Resistance of Melanesian elliptocytes (ovalocytes) to invasion by Plasmodium knowlesi and Plasmodium falciparum malaria parasites in vitro. J. Clin. Invest. 71: 780-782, 1983.
[009487]75.Drouet, B.; Garcia, L.; Simon-Chazottes, D.; Mattei, M. G.; Guenet, J.-L.; Schwartz, A.; Varadi, G.; Pincon-Raymond, M.: The gene coding for the alpha-1 subunit of the skeletal dihydropyridine receptor (Cchl1a3 = mdg) maps to mouse chromosome 1 and human 1q32. Mammalian Genome 4: 499-503, 1993.
[009488]76.Cole, W. G.; Hall, R. K.; Rogers, J. G.: The clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitution of glycine 997 by serine in the alpha-1(II) chain of type II collagen. J. Med. Genet. 30: 27-35, 1993.
[009489]77.Dalla Venezia, N.; Gilsanz, F.; Alloisio, N.; Ducluzeau, M.-T.; Benz, E. J., Jr.; Delaunay, J.: Homozygous 4.1(-) hereditary elliptocytosis associated with a point mutation in the downstream initiation codon of protein 4.1 gene. J. Clin. Invest. 90: 1713-1717, 1992.
[009490]78.Elliott, K. J.; Ellis, S. B.; Berckhan, K. J.; Urrutia, A.; Chavez-Noriega, L. E.; Johnson, E. C.; Velicelebi, G.; Harpold, M. M.: Comparative structure of human neuronal alpha(2)-alpha(7) and beta(2)-beta(4) nicotinic acetylcholine receptor subunits and functional expression of the alpha(2), alpha(3), alpha(4), alpha(7), beta(2), and beta(4) subunits. J. Molec. Neurosci. 7: 217-228, 1996.
[009491]79.Budarf, M. L.; Korenberg, J. R.; Simon, M.; Emanuel, B. S.: Regional assignment of the guanine nucleotide binding protein, GNAZ, to chromosome 22 (22q11.1-q11.2). (Abstract) Cytogenet. Cell Genet. 58: 2046-2047, 1991.
[009492]80.Jayawardena-Wolf, J.; Benlagha, K.; Chiu, Y.-H.; Mehr, R.; Bendelac, A.: CD1d endosomal trafficking is independently regulated by an intrinsic CD1d-encoded tyrosine motif and by the invariant chain. Immunity 15: 897-908, 2001.
[009493]81.Yang, W.-S.; Nevin, D. N.; Peng, R.; Brunzell, J. D.; Deeb, S. S.: A mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activity. Proc. Nat. Acad. Sci. 92: 4462-4466, 1995.
[009494]82.Lloyd, A.; Modi, W.; Sprenger, H.; Cevario, S.; Oppenheim, J.; Kelvin, D.: Assignment of genes for interleukin-8 receptors (IL8R) A and B to human chromosome band 2q35. Cytogenet. Cell Genet. 63: 238-240, 1993.
[009495]83.Murgia, C.; Blaikie, P.; Kim, N.; Dans, M.; Petrie, H. T.; Giancotti, F. G.: Cell cycle and adhesion defects in mice carrying a targeted deletion of the integrin beta-4 cytoplasmic domain. EMBO J. 17: 3940-3951, 1998.
[009496]84.Roberts, A. N.; Leighton, B.; Todd, J. A.; Cockburn, D.; Schofield, P. N.; Sutton, R.; Holt, S.; Boyd, Y.; Day, A. J.; Foot, E. A.; Willis, A. C.; Reid, K. B. M.; Cooper, G. J. S.: Molecular and functional characterization of amylin, a peptide associated with type 2 diabetes mellitus. Proc. Nat. Acad. Sci. 86: 9662-9666, 1989.
[009497]85.Harada, T.; Harada, C.; Nakayama, N.; Okuyama, S.; Yoshida, K.; Kohsaka, S.; Matsuda, H.; Wada, K.: Modification of glial-neuronal cell interactions prevents photoreceptor apoptosis during light-induced retinal degeneration. Neuron 26: 533-541, 2000.
[009498]86.Fakharzadeh, S.; Trusko, S. P.; George, D. L.: Tumorigenic potential associated with enhanced expression of a gene that is amplified in a mouse tumor cell line. EMBO J. 10: 1565-1569, 1991.
[009499]87.Hoshino, Y.; Horikawa, I.; Oshimura, M.; Yuasa, Y.: Normal human chromosome 5, on which a familial adenomatous polyposis gene is located, has tumor suppressive activity. Biochem. Biophys. Res. Commun. 174: 298-304, 1991.
[009500]88.Bonaiti-Pellie, C.; Briard-Guillemot, M. L.; Feingold, J.; Frezal, J.: Associated congenital malformations in retinoblastoma. Clin. Genet. 7: 37-39, 1975.
[009501]89.Radford, D. M.; Nakai, H.; Pegg, A. E.; Shows, T. B.: Mapping genes for rate-limiting enzymes in polyamine biosynthesis. (Abstract) Am. J. Hum. Genet. 41: A35 only, 1987.
[009502]90.Zarkowsky, H. S.; Mohandas, N.; Speaker, C. B.; Shohet, S. B. : A congenital haemolytic anaemia with thermal sensitivity of the erythrocyte membrane. Brit. J. Haemat. 29: 537-543, 1975.
[009503]91.Kogerman, P.; Grimm, T.; Kogerman, L.; Krause, D.; Unden, A. B.; Sandstedt, B.; Toftgard, R.; Zaphiropoulos, P. G.: Mammalian suppressor-of-fused modulates nuclear-cytoplasmic shuttling of GLI-1. Nature Cell Biol. 1: 312-319, 1999.
[009504]92.Ruppert, J. M.; Kinzler, K. W.; Wong, A. J.; Bigner, S. H.; Kao, F.-T.; Law, M. L.; Seuanez, H. N.; O'Brien, S. J.; Vogelstein, B. : The GLI-Kruppel family of human genes. Molec. Cell. Biol. 8: 3104-3113, 1988.
[009505]93.Grachtchouk, M.; Mo, R.; Yu, S.; Zhang, X.; Sasaki, H.; Hui, C.; Dlugosz, A. A.: Basal cell carcinomas in mice overexpressing Gli2 in skin. (Letter) Nature Genet. 24: 216-217, 2000.
[009506]94.Matsumoto, N.; Fujimoto, M.; Kato, R.; Niikawa, N.: Assignment of the human GLI2 gene to 2q14 by fluorescence in situ hybridization. Genomics 36: 220-221, 1996.
[009507]95.Ishikawa, T.; Kibe, T.; Wada, Y.: Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected by fluorescence in situ hybridization: two sibs with the typical phenotype without a cytogenetic deletion in chromosome 15q. Am. J. Med. Genet. 62: 350-352, 1996.
[009508]96.Gubina, E.; Ruiz-Hidalgo, M. J.; Baladron, V.; Laborda, J.: Assignment of DLK1 to human chromosome band 14q32 by in situ hybridization. Cytogenet. Cell Genet. 84: 206-207, 1999.
[009509]97.Helman, L. J.; Thiele, C. J.; Linehan, W. M.; Nelkin, B. D.; Baylin, S. B.; Israel, M. A.: Molecular markers of neuroendocrine development and evidence of environmental regulation. Proc. Nat. Acad. Sci. 84: 2336-2339, 1987.
[009510]98.Jensen, C. H.; Krogh, T. N.; Hojrup, P.; Clausen, P. P.; Skjodt, K.; Larsson, L.-I.; Enghild, J. J.; Teisner, B.: Protein structure of fetal antigen 1 (FA1): a novel circulating human epidermal-growthfactor-like protein expressed in neuroendocrine tumors and its relation to the gene products of dlk and pG2. Europ. J. Biochem. 225: 83-92, 1994.
[009511]99.Aguzzi, A.: Personal Communication. Zurich, Switzerland 3/20/1997.
[009512]100.Aguzzi, A.; Brandner, S.: The genetics of prions--a contradiction in terms? Lancet 354: 22-25, 1999.
[009513]101.Basler, K.; Oesch, B.; Scott, M.; Westaway, D.; Walchli, M.; Groth, D. F.; McKinley, M. P.; Prusiner, S. B.; Weissmann, C.: Scrapie and cellular PrP isoforms are encoded by the same chromosomal gene. Cell 46: 417-428, 1986.
[009514]102.Bertoni, J. M.; Brown, P.; Goldfarb, L. G.; Rubenstein, R.; Gajdusek, D. C.: Familial Creutzfeldt-Jakob disease (codon 200 mutation) with supranuclear palsy. J.A.M.A. 268: 2413-2415, 1992.
[009515]103.Beyreuther, K.; Masters, C. L.: Catching the culprit prion. Nature 370: 419-420, 1994.
[009516]104.Bosque, P. J.; Vnencak-Jones, C. L.; Johnson, M. D.; Whitlock, J. A.; McLean, M. J.: A PrP gene codon 178 base substitution and a 24-bp interstitial deletion in familial Creutzfeldt-Jakob disease. Neurology 42: 1864-1870, 1992.
[009517]105.Bounhar, Y.; Zhang, Y.; Goodyer, C. G.; LeBlanc, A.: Prion protein protects human neurons against Bax-mediated apoptosis. J. Biol. Chem. 276: 39145-39149, 2001.
[009518]106.Brown, P.; Galvez, S.; Goldfarb, L. G.; Nieto, A.; Cartier, L.; Gibbs, C. J., Jr.; Gajdusek, D. C.: Familial Creutzfeldt-Jakob disease in Chile is associated with the codon 200 mutation of the PRNP amyloid precursor gene on chromosome 20. J. Neurol. Sci. 112: 65-67, 1992.
[009519]107.Brown, P.; Goldfarb, L. G.; Gajdusek, D. C.: The new biology of spongiform encephalopathy: infectious amyloidoses with a genetic twist. Lancet 337: 1019-1022, 1991.
[009520]108.Brown, P.; Goldfarb, L. G.; Kovanen, J.; Haltia, M.; Cathala, F.; Sulima, M.; Gibbs, C. J., Jr.; Gajdusek, D. C.: Phenotypic characteristics of familial Creutzfeldt-Jakob disease associated with the codon 178-asn PRNP mutation. Ann. Neurol. 31: 282-285, 1992.
[009521]109.Brown, P.; Goldfarb, L. G.; McCombie, W. R.; Nieto, A.; Squillacote, D.; Sheremata, W.; Little, B. W.; Godec, M. S.; Gibbs, C. J., Jr.; Gajdusek, D. C.: Atypical Creutzfeldt-Jakob disease in an American family with an insert mutation in the PRNP amyloid precursor gene. Neurology 42: 422-427, 1992.
[009522]110.Bueler, H.; Aguzzi, A.; Sailer, A.; Greiner, R.-A.; Autenried, P.; Aguet, M.; Weissman, C.: Mice devoid of PrP are resistant to scrapie. Cell 73: 1339-1347, 1993.
[009523]111.Bueler, H.; Raeber, A.; Sailer, A.; Fischer, M.; Aguzzi, A.; Weissmann, C.: High prion and PrP(Sc) levels but delayed onset of disease in scrapie-inoculated mice heterozygous for a disrupted PrP gene. Molec. Med. 1: 19-30, 1994.
[009524]112.Campbell, T. A.; Palmer, M. S.; Will, R. G.; Gibb, W. R. G.; Luthert, P. J.; Collinge, J.: A prion disease with a novel 96-base pair insertional mutation in the prion protein gene. Neurology 46: 761-766, 1996.
[009525]113.Carlson, G. A.; Kingsbury, D. T.; Goodman, P. A.; Coleman, S.; Marshall, S. T.; DeArmond, S.; Westaway, D.; Prusiner, S. B.: Linkage of prion protein and scrapie incubation time genes. Cell 46: 503-511, 1986.
[009526]114.Chapman, J.; Arlazoroff, A.; Goldfarb, L. G.; Cervenakova, L.; Neufeld, M. Y.; Werber, E.; Herbert, M.; Brown, P.; Gajdusek, D. C.; Korczyn, A. D.: Fatal insomnia in a case of familial Creutzfeldt-Jakob disease with the codon 200(lys) mutation. Neurology 46: 758-761, 1996.
[009527]115.Chapman, J.; Ben-Israel, J.; Goldhammer, Y.; Korczyn, A. D.: The risk of developing Creutzfeldt-Jakob disease in subjects with the PRNP gene codon 200 point mutation. Neurology 44: 1683-1686, 1994.
[009528]116.Chapman, J.; Brown, P.; Rabey, J. M.; Goldfarb, L. G.; Inzelberg, R.; Gibbs, C. J., Jr.; Gajdusek, D. C.; Korczyn, A. D.: Transmission of spongiform encephalopathy from a familial Creutzfeldt-Jakob disease patient of Jewish Libyan origin carrying the PRNP codon 200 mutation. Neurology 42: 1249-1250, 1992.
[009529]117.Chapman, J.; Korczyn, A. D.: Genetic and environmental factors determining the development of Creutzfeldt-Jakob disease in Libyan Jews. Neuroepidemiology 10: 228-231, 1991.
[009530]118.Chiesa, R.; Drisaldi, B.; Quaglio, E.; Migheli, A.; Piccardo, P.; Ghetti, B.; Harris, D. A.: Accumulation of protease-resistant prion protein (PrP) and apoptosis of cerebellar granule cells in transgenic mice expressing a PrP insertional mutation. Proc. Nat. Acad. Sci. 97: 5574-5579, 2000.
[009531]119.Chiesa, R.; Piccardo, P.; Ghetti, B.; Harris, D. A.: Neurological illness in transgenic mice expressing a prion protein with an insertional mutation. Neuron 21: 1339-1351, 1998.
[009532]120.Collinge, J.: Human prion diseases and bovine spongiform encephalopathy (BSE). Hum. Mol. Genet. 6: 1699-1705, 1997.
[009533]121.Collinge, J.; Harding, A. E.; Owen, F.; Poulter, M.; Lofthouse, R.; Boughey, A. M.; Shah, T.; Crow, T. J.: Diagnosis of Gerstmann-Straussler syndrome in familial dementia with prion protein gene analysis. Lancet II: 15-17, 1989.
[009534]122.Collinge, J.; Brown, J.; Hardy, J.; Mullan, M.; Rossor, M. N.; Baker, H.; Crow, T. J.; Lofthouse, R.; Poulter, M.; Ridley, R.; Owen, F.; Bennett, C.; Dunn, G.; Harding, A. E.; Quinn, N.; Doshi, B.; Roberts, G. W.; Honavar, M.; Janota, I.; Lantos, P. L.: Inherited prion disease with 144 base pair gene insertion. 2. Clinical and pathological features. Brain 115: 687-710, 1992.
[009535]123.Collinge, J.; Owen, F.; Poulter, M.; Leach, M.; Crow, T. J.; Rossor, M. N.; Hardy, J.; Mullan, M. J.; Janota, I.; Lantos, P. L.: Prion dementia without characteristic pathology. Lancet 336: 7-9, 1990.
[009536]124.Collinge, J.; Palmer, M. S.; Dryden, A. J.: Genetic predisposition to iatrogenic Creutzfeldt-Jakob disease. Lancet 337: 1441-1442, 1991.
[009537]125.Collinge, J.; Poulter, M.; Davis, M. B.; Baraitser, M.; Owen, F.; Crow, T. J.; Harding, A. E.: Presymptomatic detection or exclusion of prion protein gene defects in families with inherited prion diseases. Am. J. Hum. Genet. 49: 1351-1354, 1991.
[009538]126.Collinge, J.; Whittington, M.; Sidle, K. C. L.; Smith, C. J.; Palmer, M.; Clarke, A. R.; Jefferys, J. G. R.: Prion protein is necessary for normal synaptic function. (Letter) Nature 370: 295-297, 1994.
[009539]127.Schulz, P.; Stucka, R.; Feldmann, H.; Combriato, G.; Klobeck, H.-G.; Fittler, F.: Sequence of a cDNA clone encompassing the complete mature human prostate specific antigen (PSA) and an unspliced leader sequence. Nucleic Acids Res. 16: 6226 only, 1988.
[009540]128.Sutherland, G. R.; Baker, E.; Hyland, V. J.; Callen, D. F.; Close, J. A.; Tregear, G. W.; Evans, B. A.; Richards, R. I.: Human prostate-specific antigen (APS) is a member of the glandular kallikrein gene family at 19q13. Cytogenet. Cell Genet. 48: 205-207, 1988.
[009541]129.Bookstein, R.; Lee, E. Y.-H. P.; To, H.; Young, L.-J.; Sery, T. W.; Hayes, R. C.; Friedmann, T.; Lee, W.-H.: Human retinoblastoma susceptibility gene: genomic organization and analysis of heterozygous intragenic deletion mutants. Proc. Nat. Acad. Sci. 85: 2210-2214, 1988.
[009542]130.Brantley, M. A.; Worley, L.; Harbour, J. W.: Altered expression of Rb and p53 in uveal melanomas following plaque radiotherapy. Am. J. Ophthal. 133: 242-248, 2002.
[009543]131.Bremner, R.; Du, D. C.; Connolly-Wilson, M. J.; Bridge, P.; Ahmad, K. F.; Mostachfi, H.; Rushlow, D.; Dunn, J. M.; Gallie, B. L.: Deletion of RB exons 24 and 25 causes low-penetrance retinoblastoma. Am. J. Hum. Genet. 61: 556-570, 1997.
[009544]132.Briard-Guillemot, M. L.; Bonaiti-Pellie, C.; Feingold, J.; Frezal, J.: Etude genetique du retinoblastome. Humangenetik 24: 271-284, 1974.
[009545]133.Brownstein, S.; de Chadarevian, J.-P.; Little, J. M.: Trilateral retinoblastoma: report of two cases. Arch. Ophthal. 102: 257-262, 1984.
[009546]134.Buchkovich, K.; Duffy, L. A.; Harlow, E.: The retinoblastoma protein is phosphorylated during specific phases of the cell cycle. Cell 58: 1097-1105, 1989.
[009547]135.Campos-Xavier, A. B.; Saraiva, J. M.; Savarirayan, R.; Verloes, A.; Feingold, J.; Faivre, L.; Munnich, A.; Le Merrer, M.; Cormier-Daire, V.: Phenotypic variability at the TGF-beta-1 locus in Camurati-Engelmann disease. Hum. Genet. 109: 653-658, 2001.
[009548]136.Aguercif, M.; Nigg, O. M.; Lopez, J. M.; Bouvier, C. A.: Congenital factor-XIII-activity deficiency with immunologically characterized FSF-like-protein. Nouv. Rev. Franc. Hemat. 11: 841-848, 1971.
[009549]137.Amris, C. J.; Ranek, L.: A case of fibrin-stabilizing factor (FSF) deficiency. Thromb. Diath. Haemorrh. 14: 332-340, 1965.
[009550]138.Barbui, T.; Rodeghiero, F.; Dini, E.; Mariani, G.; Papa, M. L.; De Biasi, R.; Murillo, R. C.; Umana, C. M.: Subunits A and S inheritance in four families with congenital factor XIII deficiency. Brit. J. Haemat. 38: 267-271, 1978.
[009551]139.Berliner, S.; Lusky, A.; Zivelin, A.; Modan, M.; Seligsohn, U. : Hereditary factor XIII deficiency: report of four families and definition of the carrier state. Brit. J. Haemat. 56: 495-505, 1984.
[009552]140.Board, P.; Coggan, M.; Miloszewski, K.: Identification of a point mutation in factor XIII A subunit deficiency. Blood 80: 937-941, 1992.
[009553]141.Board, P. G.: Genetic polymorphism of the A subunit of human coagulation factor XIII. Am. J. Hum. Genet. 31: 116-124, 1979.
[009554]142.Board, P. G.; Chapple, R.; Coggan, M.: Haplotypes of the coagulation factor XIII A subunit locus in normal and deficient subjects. Am. J. Hum. Genet. 42: 712-717, 1988.
[009555]143.Beutler, E.: Effect of flavin compounds on glutathione reductase activity: in vivo and in vitro studies. J. Clin. Invest. 48: 1957-1966, 1969.
[009556]144.Blume, K. G.; Gottwik, M.; Lohr, G. W.; Rudiger, H. W.: Familienuntersuchungen zum Glutathionreduktasemangel menschlicher Erythrocyten. Humangenetik 6: 163-170, 1968.
[009557]145.Carson, P. E.; Brewer, G. J.; Ickes, C.: Decreased glutathione reductase with susceptibility to hemolysis. (Abstract) J. Lab. Clin. Med. 58: 804 only, 1961.
[009558]146.de la Chapelle, A.; Icen, A.; Aula, P.; Leisti, J.; Turleau, C.; de Grouchy, J.: Mapping of the gene for glutathione reductase on chromosome 8. Ann. Genet. 19: 253-256, 1976.
[009559]147.de la Chapelle, A.; Vuopio, P.; Icen, A.: Trisomy 8 in the bone marrow associated with high red cell glutathione reductase activity. Blood 47: 815-826, 1976.
[009560]148.Fajnholc, N. E.; Kaminsky, E.; Machtey, I.; De Vries, A.: Hereditary erythrocyte glutathione reductase deficiency. Rev. Europ. Clin. Biol. 16: 987-991, 1971.
[009561]149.Flatz, G.: Population study of erythrocyte glutathione reductase activity. I. Stimulation of the enzyme by flavin adenine dinucleotide and by riboflavin supplementation. Humangenetik 11: 269-277, 1971.
[009562]150.Flatz, G.: Population study of erythrocyte glutathione reductase activity. II. Hematological data of subjects with low enzyme activity and stimulation characteristics in their families. Humangenetik 11: 278-285, 1971.
[009563]151.George, D. L.; Francke, U.: Gene dose effect: regional mapping of human glutathione reductase on chromosome 8. Cytogenet. Cell Genet. 17: 282-286, 1976.
[009564]152.Gutensohn, W.; Rodewald, A.; Haas, B.; Schulz, P.; Cleve, H.: Refined mapping of the gene for glutathione reductase on human chromosome 8. Hum. Genet. 43: 221-224, 1978.
[009565]153.Hampel, K. E.; Lohr, G. W.; Blume, K. G.; Rudiger, H. W.: Spontane und chloramphenicolinduzierte Chromosomenmutationen und biochemische Befunde bei zwei Faellen mit Glutathionreduktasemangel (NAD(P)H: glutathione oxidoreductase, E.C. 1.6.4.2). Humangenetik 7: 305-313, 1969.
[009566]154.Jensen, P. K. A.; Junien, C.; de la Chapelle, A.: Gene for glutathione reductase localized to subband 8p21.1. (Abstract) Cytogenet. Cell Genet. 37: 497 only, 1984.
[009567]155.Jensen, P. K. A.; Junien, C.; Despoisse, S.; Bernsen, A.; Thelle, T.; Friedrich, U.; de la Chapelle, A.: Inverted tandem duplication of the short arm of chromosome 8: a non-random de novo structural aberration in man. Localization of the gene for glutathione reductase in subband 8p21.1. Ann. Genet. 25: 207-211, 1982.
[009568]156.Kurz, R.; Hohenwallner, W.: Familiaerer Glutathionreduktasemangel und Stoerung der Glutathionsynthese im Erythrozyten. Helv. Paediat. Acta 25: 542-552, 1970.
[009569]157.Lohr, G. W.: Personal Communication. Marburg, Germany 1963.
[009570]158.Lohr, G. W.; Waller, H. D.: Eine neue enzymopenische haemolytische Anaemie mit Glutathionreduktase-Mangel. Med. Klin. 57: 1521-1525, 1962.
[009571]159.Lohr, G. W.; Waller, H. D.: Zur Biochemie einiger angeborener haemolytischer Anaemien. Folia Haemat. 8: 377-397, 1963.
[009572]160.Long, W. K.: Glutathione reductase in red blood cells: variant associated with gout. Science 155: 712-713, 1967.
[009573]161.Long, W. K.: Personal Communication. Austin, Texas 1972.
[009574]162.Loos, J. A.; Roos, D.; Weening, R. S.; Hauwerzijl, J.: Familial deficiency of glutathione reductase in human blood cells. Blood 48: 53-62, 1976.
[009575]163.Magenis, R. E.; Reiss, J.; Bigley, R.; Champerlin, J.; Lovrien, E.: Exclusion of glutathione reductase from 8pter-8p22 and localization to 8p21. Cytogenet. Cell Genet. 22: 446-448, 1978.
[009576]164.Nevin, N. C.; Morrison, P. J.; Jones, J.; Reid, M. M.: Inverted tandem duplication of 8p12-p23.1 in a child with increased activity of glutathione reductase. J. Med. Genet. 27: 135-136, 1990.
[009577]165.Nichols, E. A.; Ruddle, F. H.: Polymorphism and linkage of glutathione reductase in Mus musculus. Biochem. Genet. 13: 323-330, 1975.
[009578]166.Oort, M.; Loos, J. A.; Prins, H. K.: Hereditary absence of reduced glutathione in the erythrocytes--a new clinical and biochemical entity. Vox Sang. 6: 370-373, 1961.
[009579]167.Roos, D.; Weening, R. S.; Voetman, A. A.; van Schaik, M. L. J.; Bot, A. A. M.; Meerhof, L. J.; Loos, J. A.: Protection of phagocytic leukocytes by endogenous glutathione: studies in a family with glutathione reductase deficiency. Blood 53: 851-866, 1979.
[009580]168.Shows, T. B.; Sakaguchi, A. Y.: Gene transfer and gene mapping in mammalian cells in culture. In Vitro 16: 55-76, 1980.
[009581]169.Sinet, P. M.; Bresson, J. L.; Couturier, J.; Prieur, M.; Rethore, M.-O.; Taillemite, J. L.; Toudec, D.; Jerome, H.; Lejeune, J.: Localisation probable du gene de la glutathion reductase (EC 1.6.4.2.) sur la bande 8p21. Ann. Genet. 20: 13-17, 1977.
[009582]170.Staal, G. E. J.; Helleman, P. W.; De Wael, J.; Veeger, C.: Purification and properties of an abnormal glutathione reductase from human erythrocytes. Biochim. Biophys. Acta 185: 63-69, 1969.
[009583]171.Chu, F.-F.: The human glutathione peroxidase genes GPX2, GPX3, and GPX4 map to chromosomes 14, 5, and 19, respectively. Cytogenet. Cell Genet. 66: 96-98, 1994.
[009584]172.Beutler, E.; Matsumoto, F.: Ethnic variation in red cell glutathione peroxidase activity. Blood 46: 103-110, 1975.
[009585]173.Beutler, E.; West, C.: Red cell glutathione peroxidase polymorphism in Afro-Americans. Am. J. Hum. Genet. 26: 255-258, 1974.
[009586]174.Frasier, S. D.; Bashore, R. A.; Mosier, H. D.: Gonadoblastoma associated with pure gonadal dysgenesis in monozygotic twins. J. Pediat. 64: 740-745, 1964.
[009587]175.Justice, M. J.; Silan, C. M.; Ceci, J. D.; Buchberg, A. M.; Copeland, N. G.; Jenkins, N. A.: A molecular genetic linkage map of mouse chromosome 13 anchored by the beige (bg) and satin (sa) loci. Genomics 6: 341-351, 1990.
[009588]176.Terwindt, G. M.; Ophoff, R. A.; Haan, J.; Frants, R. R.; Ferrari, M. D.: Familial hemiplegic migraine: a clinical comparison of families linked and unlinked to chromosome 19. Cephalalgia 16: 153-155, 1996.
[009589]177.Seldin, M. F.: Personal Communication. Durham, N. C. 3/13/1989.
[009590]178.Weis, J. H.; Morton, C. C.; Bruns, G. A. P.; Weis, J. J.; Klickstein, L. B.; Wong, W. W.; Fearon, D. T.: A complement receptor locus: genes encoding C3b/C4b receptor and C3d/Epstein-Barr virus receptor map to 1q32. J. Immun. 138: 312-315, 1987.
[009591]179.Feifel, E.; Prodinger, W. M.; Molgg, M.; Schwaeble, W.; Schonitzer, D.; Koistinen, V.; Misasi, R.; Dierich, M. P.: Polymorphism and deficiency of human factor H-related proteins p39 and p37. Immunogenetics 36: 104-109, 1992.
[009592]180.Meyer, C. G.; Skerka, C.; Zipfel, P. F.: Polymorphism of the human factor H-related gene (FHR-1) and of factor H in a West African individual. Immunogenetics 41: 335 only, 1995.
[009593]181.Skerka, C.; Horstmann, R. D.; Zipfel, P. F.: Molecular cloning of a human serum protein structurally related to complement factor H. J. Biol. Chem. 266: 12015-12020, 1991.
[009594]182.Timmann, C.; Leippe, M.; Horstmann, R. D.: Two major serum components antigenically related to complement factor H are different glycosylation forms of a single protein with no factor H-like complement regulatory functions. J. Immun. 146: 1265-1270, 1991.
[009595]183.Zipfel, P. F.; Skerka, C.: Complement factor H and related proteins: an expanding family of complement-regulatory proteins? Immun. Today 15: 121-126, 1994.
[009596]184.Wroe, S. F.; Kelsey, G.; Skinner, J. A.; Bodle, D.; Ball, S. T.; Beechey, C. V.; Peters, J.; Williamson, C. M.: An imprinted transcript, antisense to Nesp, adds complexity to the cluster of imprinted genes at the mouse Gnas locus. Proc. Nat. Acad. Sci. 97: 3342-3346, 2000.
[009597]185.Wrong, O.: Tegernsee giant. (Letter) Lancet 339: 194 only, 1992.
[009598]186.Yang, I.; Park, S.; Ryu, M.; Woo, J.; Kim, S.; Kim, J.; Kim, Y.; Choi, Y.: Characteristics of gsp-positive growth hormone-secreting pituitary tumors in Korean acromegalic patients. Europ. J. Endocr. 134: 720-726, 1996.
[009599]187.Yu, D.; Yu, S.; Schuster, V.; Kruse, K.; Clericuzio, C. L.; Weinstein, L. S.: Identification of two novel deletion mutations within the Gs-alpha gene (GNAS1) in Albright hereditary osteodystrophy. J. Clin. Endocr. Metab. 84: 3254-3259, 1999.
[009600]188.Lerman, M. I.; Minna, J. D.: The 630-kb lung cancer homozygous deletion region on human chromosome 3p21.3: identification and evaluation of the resident candidate tumor suppressor genes. Cancer Res. 60: 6116-6133, 2000.
[009601]189.Carver, M. F. H.; Kutlar, A.: International Hemoglobin Information Center: variant list. Hemoglobin 19: 37-149, 1995.
[009602]190.Hobbs, H. H.; Leitersdorf, E.; Leffert, C. C.; Cryer, D. R.; Brown, M. S.; Goldstein, J. L.: Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defective low density lipoprotein receptors. J. Clin. Invest. 84: 656-664, 1989.
[009603]191.Alsaleh, Q. A.; Teebi, A. S.: Autosomal recessive epidermolytic palmoplantar keratoderma. J. Med. Genet. 27: 519-522, 1990.
[009604]192.Anderson, I. F.; Klintworth, G. K.: Hypovitaminosis-A in a family with tylosis and clinodactyly. Brit. Med. J. 1: 1293-1297, 1961.
[009605]193.Bergstrom, C.: Keratodermia palmaris et plantaris. Nord. Med. 78: 155-156, 1967.
[009606]194.Berth-Jones, J.; Hutchinson, P. E.: A family with palmoplantar epidermolytic hyperkeratosis. Clin. Exp. Derm. 14: 313-316, 1989.
[009607]195.Blasik, L. G.; Dimond, R. L.; Baughman, R. D.: Hereditary epidermolytic palmoplantar keratoderma. Arch. Derm. 117: 229-231, 1981.
[009608]196.Bonifas, J. M.; Matsumura, K.; Chen, M. A.; Berth-Jones, J.; Hutchinson, P. E.; Zloczower, M.; Fritsch, P. O.; Epstein, E. H., Jr.: Mutations of keratin 9 in two families with palmoplantar epidermolytic hyperkeratosis. J. Invest. Derm. 103: 474-477, 1994.
[009609]197.Camisa, C.; Williams, H.: Epidermolytic variant of hereditary palmoplantar keratoderma. Brit. J. Derm. 112: 221-225, 1985.
[009610]198.Chung, H.-L.: Keratoma palmare et plantare hereditarium, with special reference to its mode of inheritance as traced in six and seven generations, respectively, in two Chinese families. Arch. Derm. Syph. 36: 303-313, 1937.
[009611]199.Covello, S. P.; Irvine, A. D.; McKenna, K. E.; Munro, C. S.; Nevin, N. C.; Smith, F. J. D.; Uitto, J.; McLean, W. H. I.: Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland. J. Invest. Derm. 111: 1207-1209, 1998.
[009612]200.Endo, H.; Hatamochi, A.; Shinkai, H.: A novel mutation of a leucine residue in coil 1A of keratin 9 in epidermolytic palmoplantar keratoderma. J. Invest. Derm. 109: 113-115, 1997.
[009613]201.Stead, J. D. H.; Jeffreys, A. J.: Allele diversity and germline mutation at the insulin minisatellite. Hum. Molec. Genet. 9: 713-723, 2000.
[009614]202.Erneux, C.; Roeckel, N.; Takazawa, K.; Mailleux, P.; Vassart, G.; Mattei, M. G.: Localization of the genes for human inositol 1,4,5-trisphosphate 3-kinase A (ITPKA) and B (ITPKB) to chromosome regions 15q14-q21 and 1q41-q43, respectively, by in situ hybridization. Genomics 14: 546-547, 1992.
[009615]203.Takazawa, K.; Perret, J.; Dumont, J. E.; Erneux, C.: Human brain inositol 1,4,5-trisphosphate 3-kinase cDNA sequence. Nucleic Acids Res. 18: 7141 only, 1990.
[009616]204.Takazawa, K.; Perret, J.; Dumont, J. E.; Erneux, C.: Molecular cloning and expression of a human brain inositol 1,4,5-trisphosphate 3-kinase. Biochem. Biophys. Res. Commun. 174: 529-535, 1991.
[009617]205.Takazawa, K.; Perret, J.; Dumont, J. E.; Erneux, C.: Molecular cloning and expression of a new putative inositol 1,4,5-trisphosphate 3-kinase isoenzyme. Biochem. J. 278: 883-886, 1991.
[009618]206.'t Hart, L. M.; Stolk, R. P.; Dekker, J. M.; Nijpels, G.; Grobbee, D. E.; Heine, R. J.; Maassen, J. A.: Prevalence of variants in candidate genes for type 2 diabetes mellitus in the Netherlands: the Rotterdam study and the Hoorn study. J. Clin. Endocr. Metab. 84: 1002-1006, 1999.
[009619]207.Abe, H.; Yamada, N.; Kamata, K.; Kuwaki, T.; Shimada, M.; Osuga, J.; Shionoiri, F.; Yahagi, N.; Kadowaki, T.; Tamemoto, H.; Ishibashi, S.; Yazaki, Y.; Makuuchi, M.: Hypertension, hypertriglyceridemia, and impaired endothelium-dependent vascular relaxation in mice lacking insulin receptor substrate-1. J. Clin. Invest. 101: 1784-1788, 1998.
[009620]208.Almind, K.; Bjorbaek, C.; Vestergaard, H.; Hansen, T.; Echwald, S.; Pedersen, O.: Amino acid polymorphisms of insulin receptor substrate-1 in non-insulin-dependent diabetes mellitus. Lancet 342: 828-832, 1993.
[009621]209.Almind, K.; Inoue, G.; Pedersen, O.; Kahn, C. R.: A common amino acid polymorphism in insulin receptor substrate-1 causes impaired insulin signaling: evidence from transfection studies. J. Clin. Invest. 97: 2569-2575, 1996.
[009622]210.Araki, E.; Sun, X.-J.; Haag, B. L., III; Chuang, L.-M.; Zhang, Y.; Yang-Feng, T. L.; White, M. F.; Kahn, C. R.: Human skeletal muscle insulin receptor substrate-1: characterization of the cDNA, gene, and chromosomal localization. Diabetes 42: 1041-1054, 1993.
[009623]211.Baroni, M. G.; D'Andrea, M. P.; Montali, A.; Pannitteri, G.; Barilla, F.; Campagna, F.; Mazzei, E.; Lovari, S.; Seccareccia, F.; Campa, P. P.; Ricci, G.; Pozzilli, P.; Urbinati, G.; Arca, M.: A common mutation of the insulin receptor substrate-1 gene is a risk factor for coronary artery disease. Arterioscler. Thromb. Vasc. Biol. 19: 2975-2980, 1999.
[009624]212.Bohni, R.; Riesgo-Escovar, J.; Oldham, S.; Brogiolo, W.; Stocker, H.; Andruss, B. F.; Beckingham, K.; Hafen, E.: Autonomous control of cell and organ size by CHICO, a Drosophila homolog of vertebrate IRS1-4. Cell 97: 865-875, 1999.
[009625]213.Katzke, S.; Booms, P.; Tiecke, F.; Palz, M.; Pletschacher, A.; Turkmen, S.; Neumann, L. M.; Pregla, R.; Leitner, C.; Schramm, C.; Lorenz, P.; Hagemeier, C.; Fuchs, J.; Skovby, F.; Rosenberg, T.; Robinson, P. N.: TGGE screening of the entire FBN1 coding sequence in 126 individuals with Marfan syndrome and related fibrillinopathies. Hum. Mutat. 20: 197-208, 2002.
[009626]214.Kielty, C. M.; Raghunath, M.; Siracusa, L. D.; Sherratt, M. J.; Peters, R.; Shuttleworth, C. A.; Jimenez, S. A.: The tight skin mouse: demonstration of mutant fibrillin-1 production and assembly into abnormal microfibrils. J. Cell Biol. 140: 1159-1166, 1998.
[009627]215.Kilpatrick, M. W.; Phylactou, L. A.; Godfrey, M.; Wu, C. H.; Wu, G. Y.; Tsipouras, P.: Delivery of a hammerhead ribozyme specifically down-regulates the production of fibrillin-1 by cultured dermal fibroblasts. Hum. Molec. Genet. 5: 1939-1944, 1996.
[009628]216.Lee, B.; Godfrey, M.; Vitale, E.; Hori, H.; Mattei, M. G.; Sarfarazi, M.; Tsipouras, P.; Ramirez, F.; Hollister, D. W.: Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. Nature 352: 330-334, 1991.
[009629]217.Liu, W.; Qian, C.; Comeau, K.; Brenn, T.; Furthmayr, H.; Francke, U.: Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe Marfan syndrome. Hum. Molec. Genet. 5: 1581-1587, 1996.
[009630]218.Liu, W.; Qian, C.; Francke, U.: Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome. (Letter) Nature Genet. 16: 328-329, 1997.
[009631]219.Lonnqvist, L.; Child, A.; Kainulainen, K.; Davidson, R.; Puhakka, L.; Peltonen, L.: A novel mutation of the fibrillin gene causing ectopia lentis. Genomics 19: 573-576, 1994.
[009632]220.Lonnqvist, L.; Reinhardt, D.; Sakai, L.; Peltonen, L.: Evidence for furin-type activitymediated C-terminal processing of profibrillin-1 and interference in the processing by certain mutations. Hum. Molec. Genet. 7: 2039-2044, 1998.
[009633]221.Magenis, R. E.; Maslen, C. L.; Smith, L.; Allen, L.; Sakai, L. Y.: Localization of the fibrillin (FBN) gene to chromosome 15, band q21.1. Genomics 11: 346-351, 1991.
[009634]222.Maquat, L. E.: NASty effects on fibrillin pre-mRNA splicing: another case of ESE does it, but proposals for translation-dependent splice site choice live on. Genes Dev. 16: 1743-1753, 2002.
[009635]223.Maslen, C. L.; Corson, G. M.; Maddox, B. K.; Glanville, R. W.; Sakai, L. Y.: Partial sequence of a candidate gene for the Marfan syndrome. Nature 352: 334-337, 1991.
[009636]224.Matyas, G.; De Paepe, A.; Halliday, D.; Boileau, C.; Pals, G.; Steinmann, B.: Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene. Hum. Mutat. 19: 443-456, 2002.
[009637]225.McGettrick, A. J.; Knott, V.; Willis, A.; Handford, P. A.: Molecular effects of calcium binding mutations in Marfan syndrome depend on domain context. Hum. Molec. Genet. 9: 1987-1994, 2000.
[009638]226.Milewicz, D. M.; Grossfield, J.; Cao, S.-N.; Kielty, C.; Covitz, W.; Jewett, T.: A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome. J. Clin. Invest. 95: 2373-2378, 1995.
[009639]227.Milewicz, D. M.; Pyeritz, R. E.; Crawford, E. S.; Byers, P. H. : Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts. J. Clin. Invest. 89: 79-86, 1992.
[009640]228.Montgomery, R. A.; Dietz, H. C.: Inhibition of fibrillin 1 expression using U1 snRNA as a vehicle for the presentation of antisense targeting sequence. Hum. Molec. Genet. 6: 519-525, 1997.
[009641]229.Montgomery, R. A.; Geraghty, M. T.; Bull, E.; Gelb, B. D.; Johnson, M.; McIntosh, I.; Francomano, C. A.; Dietz, H. C.: Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome. Am. J. Hum. Genet. 63: 1703-1711, 1998.
[009642]230.Nijbroek, G.; Sood, S.; McIntosh, I.; Francomano, C. A.; Bull, E.; Pereira, L.; Ramirez, F.; Pyeritz, R. E.; Dietz, H. C.: Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons. Am. J. Hum. Genet. 57: 8-21, 1995.
[009643]231.Pereira, L.; Andrikopoulos, K.; Tian, J.; Lee, S. Y.; Keene, D. R.; Ono, R.; Reinhardt, D. P.; Sakai, L. Y.; Biery, N. J.; Bunton, T.; Dietz, H. C.; Ramirez, F.: Targetting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome. Nature Genet. 17: 218-222, 1997.
[009644]232.Pereira, L.; D'Alessio, M.; Ramirez, F.; Lynch, J. R.; Sykes, B.; Pangilinan, T.; Bonadio, J.: Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome. Hum. Molec. Genet. 2: 961-968, 1993.
[009645]233.Raghunath, M.; Superti-Furga, A.; Godfrey, M.; Steinmann, B.: Decreased extracellular deposition of fibrillin and decorin in neonatal Marfan syndrome fibroblasts. Hum. Genet. 90: 511-515, 1993.
[009646]234.Palz, M.; Tiecke, F.; Booms, P.; Goldner, B.; Rosenberg, T.; Fuchs, J.; Skovby, F.; Schumacher, H.; Kaufmann, U. C.; von Kodolitsch, Y.; Nienaber, C. A.; Leitner, C.; Katzke, S.; Vetter B.; Hagemeier, C.; Robinson, P. N.: Clustering of mutations associated with mild Marfan-like phenotypes in the 3-prime region of FBN1 suggests a potential genotype-phenotype correlation. Am. J. Med. Genet. 91: 212-221, 2000.
[009647]235.Rantamaki, T.; Raghunath, M.; Karttunen, L.; Lonnqvist, L.; Child, A.; Peltonen, L.: Prenatal diagnosis of Marfan syndrome: identification of a fibrillin-1 mutation in chorionic villus sample. Prenatal Diag. 15: 1176-1181, 1995.
[009648]236.Reinhardt, D. P.; Ono, R. N.; Notbohm, H.; Muller, P. K.; Bachinger, H. P.; Sakai, L. Y.: Mutations in calcium-binding epidermal growth factor modules render fibrillin-1 susceptible to proteolysis: a potential disease-causing mechanism in Marfan syndrome. J. Biol. Chem. 275: 12339-12345, 2000.
[009649]237.Robinson, P. N.; Booms, P.; Katzke, S.; Ladewig, M.; Neumann, L.; Palz, M.; Pregla, R.; Tiecke, F.; Rosenberg, T.: Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies. Hum. Mutat. 20: 153-161, 2002.
[009650]238.Robinson, P. N.; Godfrey, M.: The molecular genetics of Marfan syndrome and related microfibrillopathies. J. Med. Genet. 37: 9-25, 2000.
[009651]239.Sakai, L. Y.; Keene, D. R.; Engvall, E.: Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils. J. Cell Biol. 103: 2499-2509, 1986.
[009652]240.Fletcher, W. H.; Britz-Cunningham, S. H.; Zuppan, C. W.: Connexin43 mutations in sporadic and familial defects of laterality. (Letter) New Eng. J. Med. 333: 941-942, 1995.
[009653]241.Gebbia, M.; Towbin, J. A.; Casey, B.: Failure to detect connexin43 mutations in 38 cases of sporadic and familial heterotaxy. Circulation 94: 1909-1912, 1996.
[009654]242.Gebbia, M.; Towbin, J. A.; Casey, B.: Connexin43 gene mutations and heterotaxy. Response. (Letter) Circulation 97: 118 only, 1998.
[009655]243.Guerrero, P. A.; Schuessler, R. B.; Davis, L. M.; Beyer, E. C.; Johnson, C. M.; Yamada, K. A.; Saffitz, J. E.: Slow ventricular conduction in mice heterozygous for a connexin43 null mutation. J. Clin. Invest. 99: 1991-1998, 1997.
[009656]244.Li, J.-Y.; Hou, X.-E.; Dahlstrom, A.: GAP-43 and its relation to autonomic and sensory neurons in sciatic nerve and gastrocnemius muscle in the rat. J. Auton. Nerv. Syst. 50: 299-309, 1995.
[009657]245.Liao, Y.; Day, K. H.; Damon, D. N.; Duling, B. R.: Endothelial cell-specific knockout of connexin 43 causes hypotension and bradycardia in mice. Proc. Nat. Acad. Sci. 98: 9989-9994, 2001.
[009658]246.Liu, X. Z.; Xia, X. J.; Adams, J.; Chen, Z. Y.; Welch, K. O.; Tekin, M.; Ouyang, X. M.; Kristiansen, A.; Pandya, A.; Balkany, T.; Arnos, K. S.; Nance, W. E.: Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness. Hum. Molec. Genet. 10: 2945-2951, 2001.
[009659]247.Reaume, A. G.; de Sousa, P. A.; Kulkarni, S.; Langille, B. L.; Zhu, D.; Davies, T. C.; Juneja, S. C.; Kidder, G. M.; Rossant, J. : Cardiac malformation in neonatal mice lacking connexin43. Science 267: 1831-1834, 1995.
[009660]248.Splitt, M. P.; Burn, J.; Goodship, J.: Connexin43 mutations in sporadic and familial defects of laterality. (Letter) New Eng. J. Med. 333: 941, 1995.
[009661]249.Splitt, M. P.; Tsai, M. Y.; Burn, J.; Goodship, J. A.: Absence of mutations in the regulatory domain of the gap junction protein connexin 43 in patients with visceroatrial heterotaxy. Heart 77: 369-370, 1997.
[009662]250.Toth, T.; Hajdu, J.; Marton, T.; Nagy, B.; Papp, Z.: Connexin43 gene mutations and heterotaxy. (Letter) Circulation 97: 117-118, 1998.
[009663]251.Ya, J.; Erdstieck-Ernste, E. B. H. W.; de Boer, P. A. J.; van Kempen, M. J. A.; Jongsma, H.; Gros, D.; Moorman, A. F. M.; Lamers, W. H.: Heart defects in connexin43-deficient mice. Circ. Res. 82: 360-366, 1998.
[009664]252.Parker, D.; Ferreri, K.; Nakajima, T.; LaMorte, V. J.; Evans, R.; Koerber, S. C.; Hoeger, C.; Montminy, M. R.: Phosphorylation of CREB at ser-133 induces complex formation with CREBbinding protein via a direct mechanism. Molec. Cell. Biol. 16: 694-703, 1996.
[009665]253.Radhakrishnan, I.; Perez-Alvarado, G. C.; Parker, D.; Dyson, H. J.; Montminy, M. R.; Wright, P. E.: Solution structure of the KIX domain of CBP bound to the transactivation domain of CREB: a model for activator:coactivator interactions. Cell 91: 741-752, 1997.
[009666]254.Dhallan, R. S.; Macke, J.; Eddy, R. L.; Shows, T. B.; Reed, R. R.; Yau, K.-W.; Nathans, J.: The human rod photoreceptor cyclic GMP gated channel gene maps to chromosome 4. (Abstract) Cytogenet. Cell Genet. 58: 1886, 1991.
[009667]255.Dhallan, R. S.; Macke, J. P.; Eddy, R. L.; Shows, T. B.; Reed, R. R.; Yau, K.-W.; Nathans, J.: Human rod photoreceptor cGMP-gated channel: amino acid sequence, gene structure, and functional expression. J. Neurosci. 12: 3248-3256, 1992.
[009668]256.Dryja, T. P.; Finn, J. T.; Peng, Y.-W.; McGee, T. L.; Berson, E. L.; Yau, K.-W.: Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa. Proc. Nat. Acad. Sci. 92: 10177-10181, 1995.
[009669]257.Griffin, C. A.; Ding, C. L.; Jabs, E. W.; Hawkins, A. L.; Li, X.; Levine, M. A.: Human rod cGMP-gated cation channel gene maps to 4p12-to-centromere by chromosomal in situ hybridization. Genomics 16: 302-303, 1993.
[009670]258.Kaupp, U. B.; Niidome, T.; Tanabe, T.; Terada, S.; Bonigk, W.; Stuhmer, W.; Cook, N. J.; Kangawa, K.; Matsuo, H.; Hirose, T.; Miyata, T.; Numa, S.: Primary structure and functional expression from complementary DNA of the rod photoreceptor cyclic GMP-gated channel. Nature 342: 762-766, 1989.
[009671]259.Pittler, S. J.; Lee, A. K.; Altherr, M. R.; Howard, T. A.; Seldin, M. F.; Hurwitz, R. L.; Wasmuth, J. J.; Baehr, W.: Primary structure and chromosomal localization of human and mouse rod photoreceptor cGMP-gated cation channel. J. Biol. Chem. 267: 6257-6262, 1992.
[009672]260.Meyerson, M.; Enders, G. H.; Wu, C.-L.; Su, L.-K.; Gorka, C.; Nelson, C.; Harlow, E.; Tsai, L.-H.: A family of human cdc2-related protein kinases. EMBO J. 11: 2909-2917, 1992.
[009673]261.Demetrick, D. J.; Zhang, H.; Beach, D. H.: Chromosomal mapping of human CDK2, CDK4, and CDK5 cell cycle kinase genes. Cytogenet. Cell Genet. 66: 72-74, 1994.
[009674]262.Harbour, J. W.; Luo, R. X.; Dei Santi, A.; Postigo, A. A.; Dean, D. C.: Cdk phosphorylation triggers sequential intramolecular interactions that progressively block Rb functions as cells move through G1. Cell 98: 859-869, 1999.
[009675]263.Mitchell, E. L. D.; White, G. R. M.; Santibanez-Koref, M. F.; Varley, J. M.; Heighway, J.: Mapping of gene loci in the q13-q15 region of chromosome 12. Chromosome Res. 3: 261-262, 1995.
[009676]264.Modiano, J. F.; Mayor, J.; Ball, C.; Fuentes, M. K.; Linthicum, D. S.: CDK4 expression and activity are required for cytokine responsiveness in T cells. J. Immun. 165: 6693-6702, 2000.
[009677]265.Bullrich, F.; MacLachlan, T. K.; Sang, N.; Druck, T.; Veronese, M. L.; Allen, S. L.; Chiorazzi, N.; Koff, A.; Heubner, K.; Croce, C. M.; Giordano, A.: Chromosomal mapping of members of the cdc2 family of protein kinases, cdk3, cdk6, PISSLRE, and PITALRE, and a cdk inhibitor, p27-Kip1, to regions involved in human cancer. Cancer Res. 55: 1199-1205, 1995.
[009678]266.Yoshida, N.; Imaoka, S.; Hirata, H.; Matsuda, M.; Asakura, S. : Heterozygous abnormal fibrinogen Osaka III with the replacement of gamma-arginine-275 by histidine has an apparently higher molecular weight gamma-chain variant. Thromb. Haemost. 68: 534-538, 1992.
[009679]267.Birnbaum, R. A.; O'Marcaigh, A.; Wardak, Z.; Zhang, Y.-Y.; Dranoff, G.; Jacks, T.; Clapp, D. W.; Shannon, K. M.: Nf1 and Gmcsf interact in myeloid leukemogenesis. Molec. Cell 5: 189-195, 2000.
[009680]268.Cantrell, M. A.; Anderson, D.; Cerretti, D. P.; Price, V.; McKereghan, K.; Tushinski, R. J.; Mochizuki, D. Y.; Larsen, A.; Grabstein, K.; Gillis, S.; Cosman, D.: Cloning, sequence, and expression of a human granulocyte/macrophage colony-stimulating factor. Proc. Nat. Acad. Sci. 82: 6250-6254, 1985.
[009681]269.Frolova, E. I.; Dolganov, G. M.; Mazo, I. A.; Smirnov, D. V.; Copeland, P.; Stewart, C.; O'Brien, S. J.; Dean, M.: Linkage mapping of the human CSF2 and IL3 genes. Proc. Nat. Acad. Sci. 88: 4821-4824, 1991.
[009682]270.Grabstein, K. H.; Urdal, D. L.; Tushinski, R. J.; Mochizuki, D. Y.; Price, V. L.; Cantrell, M. A.; Gillis, S.; Conlon, P. J.: Induction of macrophage tumoricidal activity by granulocyte-macrophage colony-stimulating factor. Science 232: 506-508, 1986.
[009683]271.Huebner, K.; Isobe, M.; Croce, C. M.; Golde, D. W.; Kaufman, S. E.; Gasson, J. C.: The human gene encoding GM-CSF is at 5q21-q32, the chromosome region deleted in the 5q- anomaly. Science 230: 1282-1285, 1985.
[009684]272.Le Beau, M. M.; Westbrook, C. A.; Diaz, M. O.; Larson, R. A.; Rowley, J. D.; Gasson, J. C.; Golde, D. W.; Sherr, C. J.: Evidence for the involvement of GM-CSF and FMS in the deletion (5q) in myeloid disorders. Science 231: 984-987, 1986.
[009685]273.LeVine, A. M.; Reed, J. A.; Kurak, K. E.; Cianciolo, E.; Whitsett, J. A.: GM-CSF-deficient mice are susceptible to pulmonary group B streptococcal infection. J. Clin. Invest. 103: 563-569, 1999.
[009686]274.Metcalf, D.: The molecular biology and functions of the granulocyte-macrophage colonystimulating factors. Blood 67: 257-267, 1986.
[009687]275.Pettenati, M. J.; Le Beau, M. M.; Lemons, R. S.; Shima, E. A.; Kawasaki, E. S.; Larson, R. A.; Sherr, C. J.; Diaz, M. O.; Rowley, J. D.: Assignment of CSF-1 to 5q33.1: evidence for clustering of genes regulating hematopoiesis and for their involvement in the deletion of the long arm of chromosome 5 in myeloid disorders. Proc. Nat. Acad. Sci. 84: 2970-2974, 1987.
[009688]276.Sieff, C. A.; Emerson, S. G.; Donahue, R. E.; Nathan, D. G.; Wang, E. A.; Wong, G. G.; Clark, S. C.: Human recombinant granulocyte-macrophage colony-stimulating factor: a multilineage hematopoietin. Science 230: 1171-1173, 1985.
[009689]277.Thangavelu, M.; Neuman, W. L.; Espinosa, R., III; Nakamura, Y.; Westbrook, C. A.; Le Beau, M. M.: A physical and genetic linkage map of the distal long arm of human chromosome 5. Cytogenet. Cell Genet. 59: 27-30, 1992.
[009690]278.Yang, Y.-C.; Kovacic, S.; Kriz, R.; Wolf, S.; Clark, S. C.; Wellems, T. E.; Nienhuis, A.; Epstein, N.: The human genes for GM-CSF and IL3 are closely linked in tandem on chromosome 5. Blood 71: 958-961, 1988.
[009691]279.Modi, W. S.; Chen, Z.-Q.: Localization of the human CXC chemokine subfamily on the long arm of chromosome 4 using radiation hybrids. Genomics 47: 136-139, 1998.
[009692]280.Proost, P.; Wuyts, A.; Conings, R.; Lenaerts, J.-P.; Billiau, A.; Opdenakker, G.; Van Damme, J.: Human and bovine granulocyte chemotactic protein-2: complete amino acid sequence and functional characterization as chemokines. Biochemistry 32: 10170-10177, 1993.
[009693]281.Wong, G. G.; Witek, J. S.; Temple, P. A.; Wilkens, K. M.; Leary, A. C.; Luxenberg, D. P.; Jones, S. S.; Brown, E. L.; Kay, R. M.; Orr, E. C.; Shoemaker, C.; Golde, D. W.; Kaufman, R. J.; Hewick, R. M.; Wang, E. A.; Clark, S. C.: Human GM-CSF: molecular cloning of the complementary DNA and purification of the natural and recombinant proteins. Science 228: 810-815, 1985.
[009694]282.Rovai, L. E.; Herschman, H. R.; Smith, J. B.: Cloning and characterization of the human granulocyte chemotactic protein-2 gene. J. Immun. 158: 5257-5266, 1997.
[009695]283.Wuyts, A.; van Osselaer, N.; Haelens, A.; Samson, I.; Herdewijn, P.; Ben-Baruch, A.; Oppenheim, J. J.; Proost, P.; van Damme, J.: Characterization of synthetic human granulocyte chemotactic protein 2: usage of chemokine receptors CXCR1 and CXCR2 and in vivo inflammatory properties. Biochemistry 36: 2716-2723, 1997.
[009696]284.Kanda, N.; Fukushige, S.; Murotsu, T.; Yoshida, M. C.; Tsuchiya, M.; Asano, S.; Kaziro, Y.; Nagata, S.: Human gene coding for granulocyte-colony stimulating factor assigned to the q21-q22 region of chromosome 17. Somat. Cell Molec. Genet. 13: 679-684, 1987.
[009697]285.Yoshida, N.; Okuma, M.; Moroi, M.; Matsuda, M.: A lower molecular weight gammachain variant in a congenital abnormal fibrinogen (Kyoto). Blood 68: 703-707, 1986.
[009698]286.Yoshida, N.; Ota, K.; Moroi, M.; Matsuda, M.: An apparently higher molecular weight gamma-chain variant in a new congenital abnormal fibrinogen Tochigi characterized by the replacement of gamma arginine-275 by cysteine. Blood 71: 480-487, 1988.
[009699]287.Yoshida, N.; Terukina, S.; Okuma, M.; Moroi, M.; Aoki, N.; Matsuda, M.: Characterization of an apparently lower molecular weight gamma-chain variant in fibrinogen Kyoto I: the replacement of gamma-asparagine 308 by lysine which causes accelerated cleavage of fragment D(1) by plasmin and the generation of a new plasmin cleavage site. J. Biol. Chem. 263: 13848-13856, 1988.
[009700]288.Abraham, J. A.; Mergia, A.; Whang, J. L.; Tumolo, A.; Friedman, J.; Hjerild, K. A.; Gospodarowicz, D.; Fiddes, J. C.: Nucleotide sequence of a bovine clone encoding the angiogenic protein, basic fibroblast growth factor. Science 233: 545-548, 1986.
[009701]289.Abraham, J. A.; Whang, J. L.; Tumolo, A.; Mergia, A.; Friedman, J.; Gospodarowicz, D.; Fiddes, J. C.: Human basic fibroblast growth factor: nucleotide sequence and genomic organization. EMBO J. 5: 2523-2528, 1986.
[009702]290.Doniach, T.: Basic FGF as an inducer of anteroposterior neural pattern. Cell 83: 1067-1070, 1995.
[009703]291.Dono, R.; Texido, G.; Dussel, R.; Ehmke, H.; Zeller, R.: Impaired cerebral cortex development and blood pressure regulation in FGF2-deficient mice. EMBO J. 17: 4213-4225, 1998.
[009704]292.Fukushima, Y.; Byers, M. G.; Fiddes, J. C.; Shows, T. B.: The human basic fibroblast growth factor gene (FGFB) is assigned to chromosome 4q25. Cytogenet. Cell Genet. 54: 159-160, 1990.
[009705]293.Gritti, A.; Parati, E. A.; Cova, L.; Frolichsthal, P.; Galli, R.; Wanke, E.; Faravelli, L.; Morassutti, D. J.; Roisen, F.; Nickel, D. D.; Vescovi, A. L.: Multipotential stem cells from the adult mouse brain proliferate and self-renew in response to basic fibroblast growth factor. J. Neurosci. 16: 1091-1100, 1996.
[009706]294.Kawaguchi, H.; Nakamura, K.; Tabata, Y.; Ikada, Y.; Aoyama, I.; Anzai, J.; Nakamura, T.; Hiyama, Y.; Tamura, M.: Acceleration of fracture healing in nonhuman primates by fibroblast growth factor-2. J. Clin. Endocr. Metab. 86: 875-880, 2001.
[009707]295.Kurokawa, T.; Sasada, R.; Iwane, M.; Igarashi, K.: Cloning and expression of cDNA encoding human basic fibroblast growth factor. FEBS Lett. 213: 189-194, 1987.
[009708]296.Lafage-Pochitaloff, M.; Galland, F.; Simonetti, J.; Prats, H.; Mattei, M.-G.; Birnbaum, D.: The human basic fibroblast growth factor gene is located on the long arm of chromosome 4 at bands q26-q27. Oncogene Res. 5: 241-244, 1990.
[009709]297.Mattei, M.-G.; Pebusque, M.-J.; Birnbaum, D.: Chromosomal localizations of mouse Fgf2 and Fgf5 genes. Mammalian Genome 2: 135-137, 1992.
[009710]298.Montero, A.; Okada, Y.; Tomita, M.; Ito, M.; Tsurukami, H.; Nakamura, T.; Doetschman, T.; Coffin, J. D.; Hurley, M. M.: Disruption of the fibroblast growth factor-2 gene results in decreased bone mass and bone formation. J. Clin. Invest. 105: 1085-1093, 2000.
[009711]299.Ortega, S.; Ittmann, M.; Tsang, S. H.; Ehrlich, M.; Basilico, C.: Neuronal defects and delayed wound healing in mice lacking fibroblast growth factor 2. Proc. Nat. Acad. Sci. 95: 5672-5677, 1998.
[009712]300.Plotnikov, A. N.; Schlessinger, J.; Hubbard, S. R.; Mohammadi, M.: Structural basis for FGF receptor dimerization and activation. Cell 98: 641-650, 1999.
[009713]301.Aerssens, J.; Chaffanet, M.; Baens, M.; Matthijs, G.; Van Den Berghe, H.; Cassiman, J.-J.; Marynen, P.: Regional assignment of seven loci to 12p13.2-pter by PCR analysis of somatic cell hybrids containing the der(12) or the der(X) chromosome from a mesothelioma showing t(X;12)(q22;p13). Genomics 20: 119-121, 1994.
[009714]302.Angle, B.; Hersh, J. H.; Christensen, K. M.: Molecularly proven hypochondroplasia with cloverleaf skull deformity: a novel association. Clin. Genet. 54: 417-420, 1998.
[009715]303.Avraham, K. B.; Givol, D.; Avivi, A.; Yayon, A.; Copeland, N. G.; Jenkins, N. A.: Mapping of murine fibroblast growth factor receptors refines regions of homology between mouse and human chromosomes. Genomics 21: 656-658, 1994.
[009716]304.Bellus, G. A.; Gaudenz, K.; Zackai, E. H.; Clarke, L. A.; Szabo, J.; Francomano, C. A.; Muenke, M.: Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. Nature Genet. 14: 174-176, 1996.
[009717]305.Bellus, G. A.; Hefferon, T. W.; Ortiz de Luna, R. I.; Hecht, J. T.; Horton, W. A.; Machado, M.; Kaitila, I.; McIntosh, I.; Francomano, C. A.: Achondroplasia is defined by recurrent G380R mutations of FGFR3. Am. J. Hum. Genet. 56: 368-373, 1995.
[009718]306.Bellus, G. A.; McIntosh, I.; Smith, E. A.; Aylsworth, A. S.; Kaitila, I.; Horton, W. A.; Greenhaw, G. A.; Hecht, J. T.; Francomano, C. A. : A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. Nature Genet. 10: 357-359, 1995.
[009719]307.Arai, E.; Ikeuchi, T.; Karasawa, S.; Tamura, A.; Yamamoto, K.; Kida, M.; Ichimura, K.; Yuasa, Y.; Tonomura, A.: Constitutional translocation t(4;22)(q12;q12.2) associated with neurofibromatosis type 2. Am. J. Med. Genet. 44: 163-167, 1992.
[009720]308.Baser, M. E.; Friedman, J. M.; Aeschliman, D.; Joe, H.; Wallace, A. J.; Ramsden, R. T.; Evans, D. G. R.: Predictors of the risk of mortality in neurofibromatosis 2. Am. J. Hum. Genet. 71: 715-723, 2002.
[009721]309.Baser, M. E.; Friedman, J. M.; Evans, D. G. R.: Maternal gene effect in neurofibromatosis 2: fact or artefact? (Letter) J. Med. Genet. 38: 783-784, 2001.
[009722]310.Bianchi, A. B.; Hara, T.; Ramesh, V.; Gao, J.; Klein-Szanto, A. J. P.; Morin, F.; Menon, A. G.; Trofatter, J. A.; Gusella, J. F.; Seizinger, B. R.; Kley, N.: Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types. Nature Genet. 6: 185-192, 1994.
[009723]311.Bianchi, A. B.; Mitsunaga, S.-I.; Cheng, J. Q.; Klein, W. M.; Jhanwar, S. C.; Seizinger, B.; Kley, N.; Klein-Szanto, A. J. P.; Testa, J. R.: High frequency of inactivating mutations in the neurofibromatosis type 2 gene (NF2) in primary malignant mesotheliomas. Proc. Nat. Acad. Sci. 92: 10854-10858, 1995.
[009724]312.Drury, A. N.; Szent-Gyorgyi, A.: The physiological activity of adenine compounds with especial reference to their action upon the mammalian heart. J. Physiol. 68: 213-237, 1929.
[009725]313.Libert, F.; Passage, E.; Parmentier, M.; Simons, M.-J.; Vassart, G.; Mattei, M.-G.: Chromosomal mapping of A1 and A2 adenosine receptors, VIP receptor, and a new subtype of serotonin receptor. Genomics 11: 225-227, 1991.
[009726]314.Stiles, G. L.: Adenosine receptors. J. Biol. Chem. 267: 6451-6454, 1992.
[009727]315.Sun, D.; Samuelson, L. C.; Yang, T.; Huang, Y.; Paliege, A.; Saunders, T.; Briggs, J.; Schnermann, J.: Mediation of tubuloglomerular feedback by adenosine: evidence from mice lacking adenosine 1 receptors. Proc. Nat. Acad. Sci. 98: 9983-9988, 2001.
[009728]316.Townsend-Nicholson, A.; Baker, E.; Schofield, P. R.; Sutherland, G. R.: Localization of the adenosine A1 receptor subtype gene (ADORA1) to chromosome 1q32.1. Genomics 26: 423-425, 1995.
[009729]317.Chen, J.-F.; Huang, Z.; Ma, J.; Zhu, J.; Moratalla, R.; Standaert, D.; Moskowitz, M. A.; Fink, J. S.; Schwarzschild, M. A.: A2A adenosine receptor deficiency attenuates brain injury induced by transient focal ischemia in mice. J. Neurosci. 19: 9192-9200, 1999.
[009730]318.Gaudray, P.: Personal Communication. Nice, France 6/1/1994.
[009731]319.Gusella, J. F.: Personal Communication. Boston, Mass. 4/17/1994.
[009732]320.Le, F.; Townsend-Nicholson, A.; Baker, E.; Sutherland, G. R.; Schofield, P. R.: Characterization and chromosomal localization of the human A2a adenosine receptor gene: ADORA2A. Biochem. Biophys. Res. Commun. 223: 461-467, 1996.
[009733]321.Ledent, C.; Vaugeois, J.-M.; Schiffmann, S. N.; Pedrazzini, T.; El Yacoubi, M. E.; Vanderhaeghen, J.-J.; Costentin, J.; Heath, J. K.; Vassart, G.; Parmentier, M.: Aggressiveness, hypoalgesia and high blood pressure in mice lacking the adenosine A2a receptor. Nature 388: 674-678, 1997.
[009734]322.Libert, F.; Passage, E.; Parmentier, M.; Simons, M.-J.; Vassart, G.; Mattei, M.-G.: Chromosomal mapping of A1 and A2 adenosine receptors, VIP receptor, and a new subtype of serotonin receptor. Genomics 11: 225-227, 1991. Note: Erratum: Genomics 23: 305 only, 1994.
[009735]323.MacCollin, M.; Peterfreund, R.; MacDonald, M.; Fink, J. S.; Gusella, J.: Mapping of a human A2a adenosine receptor (ADORA2) to chromosome 22. Genomics 20: 332-333, 1994.
[009736]324.Ohta, A.; Sitkovsky, M.: Role of G-protein-coupled adenosine receptors in downregulation of inflammation and protection from tissue damage. Nature 916-920, 2001.
[009737]325.Szepetowski, P.; Perucca-Lostanlen, D.; Gaudray, P.: Mapping genes according to their amplification status in tumor cells: contribution to the map of 11q13. Genomics 16: 745-750, 1993.
[009738]326.Kudoh, J.; Minoshima, S.; Fukuyama, R.; Maekawa, M.; Neckelmann, N.; Wallace, D. C.; Shimizu, Y.; Shimizu, N.: Assignment of ATP synthase beta subunit (ATPMB) gene to the p13-qter region of human chromosome 12. (Abstract) Cytogenet. Cell Genet. 51: 1026 only, 1989.
[009739]327.Neckelmann, N.; Warner, C. K.; Chung, A.; Kudoh, J.; Minoshima, S.; Fukuyama, R.; Maekawa, M.; Shimizu, Y.; Shimizu, N.; Liu, J. D.; Wallace, D. C.: The human ATP synthase beta subunit gene: sequence analysis, chromosome assignment, and differential expression. Genomics 5: 829-843, 1989.
[009740]328.Neckelmann, N. S.; Chung, A. B.; Warner, C. K.; Hodge, J. A.; Wallace, D. C.: The human ATP synthase beta subunit gene has been sequenced and shown to be preferentially expressed in heart and skeletal muscle. (Abstract) Cytogenet. Cell Genet. 51: 1051 only, 1989.
[009741]329.Ohta, S.; Tomura, H.; Matsuda, K.; Kagawa, Y.: Gene structure of the human mitochondrial adenosine triphosphate synthase beta subunit. J. Biol. Chem. 263: 11257-11262, 1988.
[009742]330.Hawkins, J. W.; Dugaiczyk, A.: The human serum albumin gene: structure of a unique locus. Gene 19: 55-58, 1982.
[009743]331.Huss, K.; Madison, J.; Ishioka, N.; Takahashi, N.; Arai, K.; Putnam, F. W.: The same substitution, glutamic acid-to-lysine at position 501, occurs in three alloalbumins of Asiatic origin: albumins Vancouver, Birmingham, and Adana. Proc. Nat. Acad. Sci. 85: 6692-6696, 1988.
[009744]332.Huss, K.; Putnam, F. W.; Takahashi, N.; Takahashi, Y.; Weaver, G. A.; Peters, T., Jr.: Albumin Cooperstown: a serum albumin variant with the same (313 lys-to-asn) mutation found in albumins in Italy and New Zealand. Clin. Chem. 34: 183-187, 1988.
[009745]333.Hutchinson, D. W.; Matejtschuk, P.; Lord, C.: Albumin Carlisle: occurrence and properties of a new human albumin variant. IRCS Med. Sci. 14: 1095-1096, 1986.
[009746]334.Jamieson, G. A.; Ganguly, P.: Studies on a genetically determined albumin dimer. Biochem. Genet. 3: 403-416, 1969.
[009747]335.Jensen, I. W.; Faber, J.: Familial dysalbuminemic hyperthyroxinemia. Acta Med. Scand. 221: 469-473, 1987.
[009748]336.Kaarsalo, E.; Melartin, L.; Blumberg, B. S.: Autosomal linkage between the albumin and GC loci in humans. Science 158: 123-125, 1967.
[009749]337.Kallee, E.: Bennhold's analbuminemia: a follow-up study of the first two cases (1953-1992). J. Lab. Clin. Med. 127: 470-480, 1996.
[009750]338.Kao, F.-T.; Hawkins, J. W.; Law, M. L.; Dugaiczyk, A.: Assignment of the structural gene coding for albumin to human chromosome 4. Hum. Genet. 62: 337-341, 1982.
[009751]339.Kaur, H.; Franklin, S. G.; Shrivastava, P. K.; Blumberg, B. S. : Alloalbuminemia in North India. Am. J. Hum. Genet. 34: 972-979, 1982.
[009752]340.Kueppers, F.; Holland, P. V.; Weitkamp, L. R.: Albumin Santa Ana: a new inherited variant. Hum. Hered. 19: 378-384, 1969.
[009753]341.Kurnit, D. M.; Philipp, B. W.; Bruns, G. A. P.: Confirmation of the mapping assignment of human serum albumin to chromosome 4 using a cloned human albumin gene. Cytogenet. Cell Genet. 34: 282-288, 1982.
[009754]342.Lalloz, M. R. A.; Byfield, P. G. H.; Himsworth, R. L.: Hyperthyroxinaemia: abnormal binding of T4 by an inherited albumin variant. Clin. Endocr. 18: 11-24, 1983.
[009755]343.Lalloz, M. R. A.; Byfield, P. G. H.; Himsworth, R. L.: A new and distinctive albumin variant with increased affinities for both triiodothyronines and causing hyperthyroxinaemia. Clin. Endocr. 22: 521-529, 1985.
[009756]344.Lau, T. J.; Sunderman, F. W., Jr.; Weitkamp, L. R.; Agarwal, S. S.; Sutnick, A. I.; Blumberg, B. S.; De Jimenez, R. B. C.: Albumin Cartago: a 'new' slow-moving alloalbumin. Am. J. Clin. Path. 57: 247-251, 1972.
[009757]345.Laurell, C. B.; Nilehn, J. E.: A new type of inherited serum albumin anomaly. J. Clin. Invest. 45: 1935-1945, 1966.
[009758]346.Lavareda de Souza, S.; Frain, M.; Mornet, E.; Sala-Trepat, J. M.; Lucotte, G.: Polymorphisms of human albumin gene after DNA restriction by HaeIII endonuclease. Hum. Genet. 67: 48-51, 1984.
[009759]347.Lyon, A. W.; Meinert, P.; Bruce, G. A.; Laxdal, V. A.; Salkie, M. L.: Influence of methodology on the detection and diagnosis of congenital analbuminemia. Clin. Chem. 44: 2365-2367, 1998.
[009760]348.Madison, J.; Arai, K.; Sakamoto, Y.; Feld, R. D.; Kyle, R. A.; Watkins, S.; Davis, E.; Matsuda, Y.; Amaki, I.; Putnam, F. W.: Genetic variants of serum albumin in Americans and Japanese. Proc. Nat. Acad. Sci. 88: 9853-9857, 1991.
[009761]349.Madison, J.; Galliano, M.; Watkins, S.; Minchiotti, L.; Porta, F.; Rossi, A.; Putnam, F. W.: Genetic variants of human serum albumin in Italy: point mutants and a carboxyl-terminal variant. Proc. Nat. Acad. Sci. 91: 6476-6480, 1994.
[009762]350.Magenis, R. E.; Luo, X. Y.; Dugaiczyk, A.; Ryan, S. C.; Oosterhuis, J. E.: Chromosomal localization of the albumin and alpha-fetoprotein genes in the orangutan (Pongo pygmaeus) and gorilla (Gorilla gorilla). (Abstract) Cytogenet. Cell Genet. 51: 1037 only, 1989.
[009763]351.Melartin, L.: Albumin polymorphism in man: studies on albumin variants in North American native populations. Acta Path. Microbiol. Scand. 191 (suppl.): 1-50, 1967.
[009764]352.Melartin, L.; Blumberg, B. S.: Albumin Naskapi: a new variant of serum albumin. Science 153: 1664-1666, 1966.
[009765]353.Melartin, L.; Blumberg, B. S.; Lisker, R.: Albumin Mexico, a new variant of serum albumin. Nature 215: 1288-1289, 1967.
[009766]354.Mendel, C. M.; Cavalieri, R. R.; Gavin, L. A.; Pettersson, T.; Inoue, M.: Thyroxine transport and distribution in Nagase analbuminemic rats. J. Clin. Invest. 83: 143-148, 1989.
[009767]355.Minchiotti, L.; Galliano, M.; Iadarola, P.; Meloni, M. L.; Ferri, G.; Porta, F.; Castellani, A. A.: The molecular defect in a COOH-terminal-modified and shortened mutant of human serum albumin. J. Biol. Chem. 264: 3385-3389, 1989.
[009768]356.Minchiotti, L.; Galliano, M.; Kragh-Hansen, U.; Watkins, S.; Madison, J.; Putnam, F. W.: A genetic variant of albumin (albumin Asola; tyr140-to-cys) with no free -SH group but with an additional disulfide bridge. Europ. J. Biochem. 228: 155-159, 1995.
[009769]357.Minchiotti, L.; Galliano, M.; Stoppini, M.; Ferri, G.; Crespeau, H.; Rochu, D.; Porta, F.: Two alloalbumins with identical electrophoretic mobility are produced by differently charged amino acid substitutions. Biochim. Biophys. Acta 1119: 232-238, 1992.
[009770]358.Minchiotti, L.; Galliano, M.; Zapponi, M. C.; Tenni, R.: The structural characterization and bilirubin-binding properties of albumin Herborn, a lys240-to-glu albumin mutant. Europ. J. Biochem. 214: 437-444, 1993.
[009771]359.Minghetti, P. P.; Law, S. W.; Dugaiczyk, A.: The rate of molecular evolution of alphafetoprotein approaches that of pseudogenes. Molec. Biol. Evol. 2: 347-358, 1985.
[009772]360.Minghetti, P. P.; Ruffner, D. E.; Kuang, W.-J.; Dennison, O. E.; Hawkins, J. W.; Beattie, W. G.; Dugaiczyk, A.: Molecular structure of the human albumin gene is revealed by nucleotide sequence within q11-22 of chromosome 4. J. Biol. Chem. 261: 6747-6757, 1986.
[009773]361.Murray, J. C.; Demopulos, C. M.; Lawn, R. M.; Motulsky, A. G. : Restriction endonuclease study of analbuminemia and polymorphisms at the albumin locus. (Abstract) Clin. Res. 31: 456A only, 1983.
[009774]362.Murray, J. C.; Demopulos, C. M.; Lawn, R. M.; Motulsky, A. G. : Molecular genetics of human serum albumin: restriction enzyme fragment length polymorphisms and analbuminemia. Proc. Nat. Acad. Sci. 80: 5951-5955, 1983.
[009775]363.Murray, J. C.; Mills, K. A.; Demopulos, C. M.; Hornung, S.; Motulsky, A. G.: Linkage disequilibrium and evolutionary relationships of DNA variants (restriction enzyme fragment length polymorphisms) at the serum albumin locus. Proc. Nat. Acad. Sci. 81: 3486-3490, 1984.
[009776]364.Perkoff, G. T.; Nugent, C. A., Jr.; Dolowitz, D. A.; Stephens, F. E.; Carnes, W. H.; Tyler, F. H.: A follow-up study of hereditary chronic nephritis. Arch. Intern. Med. 102: 733-746, 1958.
[009777]365.Barbry, P.; Champe, M.; Chassande, O.; Munemitsu, S.; Champigny, G.; Lingueglia, E.; Maes, P.; Frelin, C.; Tartar, A.; Ullrich, A.; Lazdunski, M.: Human kidney amiloride-binding protein: cDNA structure and functional expression. Proc. Nat. Acad. Sci. 87: 7347-7351, 1990.
[009778]366.Barbry, P.; Simon-Bouy, B.; Mattei, M.-G.; Le Guern, E.; Jaume-Roig, B.; Chassande, O.; Ullrich, A.; Lazdunski, M.: Localization of the gene for amiloride binding protein on chromosome 7 and RFLP analysis in cystic fibrosis families. Hum. Genet. 85: 587-589, 1990.
[009779]367.Chassande, O.; Renard, S.; Barbry, P.; Lazdunski, M.: The human gene for diamine oxidase, an amiloride binding protein: molecular cloning, sequencing, and characterization of the promoter. J. Biol. Chem. 269: 14484-14489, 1994.
[009780]368.Novotny, W. F.; Chassande, O.; Baker, M.; Lazdunski, M.; Barbry, P.: Diamine oxidase is the amiloride-binding protein and is inhibited by amiloride analogues. J. Biol. Chem. 269: 9921-9925, 1994.
[009781]369.Ala-Kapee, M.; Forsberg, U. H.; Jalkanen, S.; Schroder, J.: Mapping of gene for human lymphocyte homing receptor to the short arm of chromosome 11. (Abstract) Cytogenet. Cell Genet. 51: 948-949, 1989.
[009782]370.Aruffo, A.; Stamenkovic, I.; Melnick, M.; Underhill, C. B.; Seed, B.: CD44 is the principal cell surface receptor for hyaluronate. Cell 61: 1303-1313, 1990.
[009783]371.Cianfriglia, M.; Viora, M.; Tombesi, M.; Merendino, N.; Esposito, G.; Samoggia, P.; Forsberg, U. H.; Schroder, J.: The gene encoding for MC56 determinant (drug-sensitivity marker) is located on the short arm of human chromosome 11. Int. J. Cancer 52: 585-587, 1992.
[009784]372.Cywes, C.; Wessels, M. R.: Group A Streptococcus tissue invasion by CD44-mediated cell signalling. Nature 414: 648-652, 2001.
[009785]373.Forsberg, U. H.; Ala-Kapee, M. M.; Jalkanen, S.; Andersson, L. C.; Schroder, J.: The gene for human lymphocyte homing receptor is located on chromosome 11. Europ. J. Immun. 19: 409-412, 1989.
[009786]374.Forsberg, U. H.; Jalkanen, S.; Schroder, J.: Assignment of the human lymphocyte homing receptor gene to the short arm of chromosome 11. Immunogenetics 29: 405-407, 1989.
[009787]375.Haynes, B. F.: Personal Communication. Durham, N. C. 2/28/1986.
[009788]376.Krainer, A. R.; Mayeda, A.; Kozak, D.; Binns, G.: Functional expression of cloned human splicing factor SF2: homology to RNA-binding proteins, U1 70K, and Drosophila splicing regulators. Cell 66: 383-394, 1991.
[009789]377.Matsumura, Y.; Tarin, D.: Significance of CD44 gene products for cancer diagnosis and disease evaluation. Lancet 340: 1053-1058, 1992.
[009790]378.Mayer, B.; Jauch, K. W.; Gunthert, U.; Figdor, C. G.; Schildberg, F. W.; Funke, I.; Johnson, J. P.: De-novo expression of CD44 and survival in gastric cancer. Lancet 342: 1019-1022, 1993.
[009791]379.Omary, M. B.; Trowbridge, I. S.; Letarte, M.; Kagnoff, M. F.; Isacke, C. M.: Structural heterogeneity of human Pgp-1 and its relationship with p85. Immunogenetics 27: 460-464, 1988.
[009792]380.Schlossman, S. F.; Boumsell, L.; Gilks, W.; Harlan, J. M.; Kishimoto, T.; Morimoto, C.; Ritz, J.; Shaw, S.; Silverstein, R. L.; Springer, T. A.; Tedder, T. F.; Todd, R. F.: CD antigens 1993. Immun. Today 15: 98-99, 1994.
[009793]381.Schmits, R.; Filmus, J.; Gerwin, N.; Senaldi, G.; Kiefer, F.; Kundig, T.; Wakeham, A.; Shahinian, A.; Catzavelos, C.; Rak, J.; Furlonger, C.; Zakarian, A.; Simard, J. J.; Ohashi, P. S.; Paige, C. J.; Gutierrez-Romas, J. C.; Mak, T. W.: CD44 regulates hematopoietic progenitor distribution, granuloma formation, and tumorigenicity. Blood 90: 2217-2233, 1997.
[009794]382.Screaton, G. R.; Bell, M. V.; Jackson, D. G.; Cornelis, F. B.; Gerth, U.; Bell, J. I.: Genomic structure of DNA encoding the lymphocyte homing receptor CD44 reveals at least 12 alternatively spliced exons. Proc. Nat. Acad. Sci. 89: 12160-12164, 1992.
[009795]383.Spring, F. A.; Holmes, C. H.; Simpson, K. L.; Mawby, W. J.; Mattes, M. J.; Okubo, Y.; Parsons, S. F.: The Ok(a) blood group antigen is a marker for the M6 leukocyte activation antigen, the human homolog of OX-47 antigen, basigin and neurothelin, an immunoglobulin superfamily molecule that is widely expressed in human cells and tissues. Europ. J. Immun. 27: 891-897, 1997.
[009796]384.Olives, B.; Neau, P.; Bailly, P.; Hediger, M. A.; Rousselet, G.; Cartron, J.-P.; Ripoche, P.: Cloning and functional expression of a urea transporter from human bone marrow cells. J. Biol. Chem. 269: 31649-31652, 1994.
[009797]385.Pausch, V.; Mayr, W. R.: Analysis of the linkage JK-IGK, MNS-GC and of two other possible linkage groups. Hum. Hered. 37: 260-262, 1987.
[009798]386.Promeneur, D.; Rousselet, G.; Bankir, L.; et al: Evidence for distinct vascular and tubular urea transporters in the rat kidney. J. Am. Soc. Nephrol. 7: 852-860, 1996.
[009799]387.Sands, J. M.; Gargus, J. J.; Frohlich, O.; Gunn, R. B.; Kokko, J. P.: Urinary concentrating ability in patients with Jk(a/b) blood type who lack carrier-mediated urea transport. J. Am. Soc. Nephrol. 2: 1689-1696, 1992.
[009800]388.Sherman, S. L.; Simpson, S. P.: Evidence for the location of JK and CO on chromosome 2 based on family studies. (Abstract) Cytogenet. Cell Genet. 40: 743, 1985.
[009801]389.Shokeir, M. H. K.; Ying, K. L.; Pabello, P.: Deletion of the long arm of chromosome no. 7: tentative assignment of the Kidd (Jk) locus. Clin. Genet. 4: 360-368, 1973.
[009802]390.Sidoux-Walter, F.; Lucien, N.; Nissinen, R.; Sistonen, P.; Henry, S.; Moulds, J.; Cartron, J.-P.; Bailly, P.: Molecular heterogeneity of the Jk-null phenotype: expression analysis of the Jk(S291P) mutation found in Finns. Blood 96: 1566-1573, 2000.
[009803]391.Tsukaguchi, H.; Shayakul, C.; Berger, U. V.; Tokui, T.; Brown, D.; Hediger, M. A.: Cloning and characterization of the urea transportation UT3: localization in rat kidney and testis. J. Clin. Invest. 99: 1506-1515, 1997.
[009804]392.Xu, Y.; Olives, B.; Bailly, P.; et al: Endothelial cells of the kidney vasa recta express the urea transporter HUT11. Kidney Int. 51: 138-146, 1997.
[009805]393.Grollman, E. F.; Kobata, A.; Ginsburg, V.: An enzymatic basis for Lewis blood types in man. J. Clin. Invest. 48: 1489-1494, 1969.
[009806]394.Koda, Y.; Kimura, H.; Mekada, E.: Analysis of Lewis fucosyltransferase genes from the human gastric mucosa of Lewis-positive and -negative individuals. Blood 82: 2915-2919, 1993.
[009807]395.Koprowski, H.; Blaszczyk, M.; Steplewski, Z.; Brockhaus, M.; Magnani, J.; Ginsburg, V.: Lewis blood-type may affect the incidence of gastrointestinal cancer. Lancet I: 1332-1333, 1982.
[009808]396.Nishihara, S.; Narimatsu, H.; Iwasaki, H.; Yazawa, S.; Akamatsu, S.; Ando, T.; Seno, T.; Narimatsu, I.: Molecular genetic analysis of the human Lewis histo-blood group system. J. Biol. Chem. 269: 29271-29278, 1994.
[009809]397.Orntoft, T. F.; Vestergaard, E. M.; Holmes, E.; Jakobsen, J. S.; Grunnet, N.; Mortensen, M.; Johnson, P.; Bross, P.; Gregersen, N.; Skorstengaard, K.; Jensen, U. B.; Bolund, L.; Wolf, H.: Influence of Lewis alpha-1-3/4-L-fucosyltransferase (FUT3) gene mutations on enzyme activity, erythrocyte phenotyping, and circulating tumor marker sialyl-Lewis a levels. J. Biol. Chem. 271: 32260-32268, 1996.
[009810]398.Pang, H.; Liu, Y.; Koda, Y.; Soejima, M.; Jia, J.; Schlaphoff, T.; du Toit, E. D.; Kimura, H.: Five novel missense mutations of the Lewis gene (FUT3) in African (Xhosa) and Caucasian populations in South Africa. Hum. Genet. 102: 675-680, 1998.
[009811]399.Reguigne-Arnould, I.; Couillin, P.; Mollicone, R.; Faure, S.; Fletcher, A.; Kelly, R. J.; Lowe, J. B.; Oriol, R.: Relative positions of two clusters of human alpha-L-fucosyltransferases in 19q (FUT1-FUT2) and 19p (FUT6-FUT3-FUT5) within the microsatellite genetic map of chromosome 19. Cytogenet. Cell Genet. 71: 158-162, 1995.
[009812]400.Sheinfeld, J.; Schaeffer, A. J.; Cordon-Cardo, C.; Rogatko, A.; Fair, W. R.: Association of the Lewis blood-group phenotype with recurrent urinary tract infections in women. New Eng. J. Med. 320: 773-777, 1989.
[009813]401.Weitkamp, L. R.; Johnston, E.; Guttormsen, S. A.: Probable genetic linkage between the loci for the Lewis blood group and complement C3. Cytogenet. Cell Genet. 13: 183-184, 1974.
[009814]402.Yazawa, S.; Oh-Kawara, H.; Nakajima, T.; Hosomi, O.; Akamatsu, S.; Kishi, K.: Histoblood group Lewis genotyping from human hairs and blood. Jpn. J. Hum. Genet. 41: 177-188, 1996.
[009815]403.Bandera, C. A.; Muto, M. G.; Schorge, J. O.; Berkowitz, R. S.; Rubin, S. C.; Mok, S. C.: BRCA1 gene mutations in women with papillary serous carcinoma of the peritoneum. Obstet. Gynec. 92: 596-600, 1998.
[009816]404.Bar-Sade, R. B.; Kruglikova, A.; Modan, B.; Gak, E.; Hirsh-Yechezkel, G.; Theodor, L.; Novikov, I.; Gershoni-Baruch, R.; Risel, S.; Papa, M. Z.; Ben-Baruch, G.; Friedman, E.: The 185delAG BRCA1 mutation originated before the dispersion of Jews in the Diaspora and is not limited to Ashkenazim. Hum. Molec. Genet. 7: 801-805, 1998.
[009817]405.Bar-Sade, R. B.; Theodor, L.; Gak, E.; Kruglikova, A.; Hirsch-Yechezkel, G.; Modan, B.; Kuperstein, G.; Seligsohn, U.; Rechavi, G.; Friedman, E.: Could the 185delAG BRCA1 mutation be an ancient Jewish mutation? Europ. J. Hum. Genet. 5: 413-416, 1997.
[009818]406.Barker, D. F.; Almeida, E. R. A.; Casey, G.; Fain, P. R.; Liao, S. Y.; Masunaka, I.; Noble, B.; Kurosaki, T.; Anton-Culver, H.: BRCA1 R841W: a strong candidate for a common mutation with moderate phenotype. Genet. Epidemiol. 13: 595-604, 1996.
[009819]407.Bennett, L. M.; Haugen-Strano, A.; Cochran, C.; Brownlee, H. A.; Fiedorek, F. T., Jr.; Wiseman, R. W.: Isolation of the mouse homologue of BRCA1 and genetic mapping to mouse chromosome 11. Genomics 29: 576-581, 1995.
[009820]408.Bergman, A.; Einbeigi, Z.; Olofsson, U.; Taib, Z.; Wallgren, A.; Karlsson, P.; Wahlstrom, J.; Martinsson, T.; Nordling, M.: The western Swedish BRCA1 founder mutation 3171ins5; a 3.7 cM conserved haplotype of today is a reminiscence of a 1500-year-old mutation. Europ. J. Hum. Genet. 9: 787-793, 2001.
[009821]409.Bochar, D. A.; Wang, L.; Beniya, H.; Kinev, A.; Xue, Y.; Lane, W. S.; Wang, W.; Kashanchi, F.; Shiekhattar, R.: BRCA1 is associated with a human SWI/SNF-related complex: linking chromatin remodeling to breast cancer. Cell 102: 257-265, 2000.
[009822]410.Boyd, J.; Sonoda, Y.; Federici, M. G.; Bogomolniy, F.; Rhei, E.; Maresco, D. L.; Saigo, P. E.; Almadrones, L. A.; Barakat, R. R.; Brown, C. L.; Chi, D. S.; Curtin, J. P.; Poynor, E. A.; Hoskins, W. J.: Clinicopathologic features of BRCA-linked and sporadic ovarian cancer. J.A.M.A. 283: 2260-2265, 2000.
[009823]411.BRCA1 Exon 13 Duplication Screening Group: The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographically diverse populations. Am. J. Hum. Genet. 67: 207-212, 2000.
[009824]412.Breast Cancer Linkage Consortium: Pathology of familial breast cancer: differences between breast cancers in carriers of BRCA1 and BRCA2 mutations and sporadic cases. Lancet 349: 1505-1510, 1997.
[009825]413.Briki, F.; Busson, B.; Salicru, B.; Esteve, F.; Doucet, J.: Breast-cancer diagnosis using hair. (Letter) Nature 400: 220 only, 1999.
[009826]414.Brown, M. A.; Lo, L.-J.; Catteau, A.; Xu, C.-F.; Lindeman, G. J.; Hodgson, S.; Solomon, E.: Germline BRCA1 promoter deletions in UK and Australian familial breast cancer patients: identification of a novel deletion consistent with BRCA1:psi-BRCA1 recombination. Hum. Mutat. 19: 435-442, 2002.
[009827]415.Castilla, L. H.; Couch, F. J.; Erdos, M. R.; Hoskins, K. F.; Calzone, K.; Garber, J. E.; Boyd, J.; Lubin, M. B.; Deshano, M. L.; Brody, L. C.; Collins, F. S.; Weber, B. L.: Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer. Nature Genet. 8: 387-391, 1994.
[009828]416.Chen, J.; Silver, D. P.; Walpita, D.; Cantor, S. B.; Gazdar, A. F.; Tomlinson, G.; Couch, F. J.; Weber, B. L.; Ashley, T.; Livingston, D. M.; Scully, R.: Stable interaction between the products of the BRCA1 and BRCA2 tumor suppressor genes in mitotic and meiotic cells. Molec. Cell 2: 317-328, 1998.
[009829]417.Chen, Y.; Chen, C.-F.; Riley, D. J.; Allred, D. C.; Chen, P.-L.; Von Hoff, D.; Osborne, C. K.; Lee, W.-H.: Aberrant subcellular localization of BRCA1 in breast cancer. Science 270: 789-791, 1995.
[009830]418.Chen, Y.; Farmer, A. A.; Chen, C.-F.; Jones, D. C.; Chen, P.-L.; Lee, W.-H.: BRCA1 is a 220-kDa nuclear phosphoprotein that is expressed and phosphorylated in a cell cycle-dependent manner. Cancer Res. 56: 3168-3172, 1996.
[009831]419.Claus, E. B.; Risch, N.; Thompson, W. D.: Genetic analysis of breast cancer in the cancer and steroid hormone study. Am. J. Hum. Genet. 48: 232-242, 1991.
[009832]420.Coene, E.; Van Oostveldt, P.; Willems, K.; van Emmelo, J.; De Potter, C. R.: BRCA1 is localized in cytoplasmic tube-like invaginations in the nucleus. (Letter) Nature Genet. 116: 122-124, 1997.
[009833]421.Cornelis, R. S.; Vasen, H. F. A.; Meijers-Heijboer, H.; Ford, D.; van Vliet, M.; van Tilborg, A. A. G.; Cleton, F. J.; Klijn, J. G. M.; Menko, F. H.; Khan, P. M.; Cornelisse, C. J.; Devilee, P.: Age at diagnosis as an indicator of eligibility for BRCA1 DNA testing in familial breast cancer. Hum. Genet. 95: 539-544, 1995.
[009834]422.Couch, F. J.; DeShano, M. L.; Blackwood, M. A.; Calzone, K.; Stopfer, J.; Campeau, L.; Ganguly, A.; Rebbeck, T.; Weber, B. L.: BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer. New Eng. J. Med. 336: 1409-1415, 1997.
[009835]423.Couch, F. J.; Weber, B. L.; Breast Cancer Information Core: Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene. Hum. Mutat. 8: 8-18, 1996.
[009836]424.De Gregorio, L.; Harshman, K.; Rosenthal, J.; Dragani, T. A.; Pierotti, M. A.: Genetic mapping of the Brca1 gene on mouse chromosome 11. Mammalian Genome 7: 242, 1996.
[009837]425.De Los Rios, P.; Jack, E.; Kuperstein, G.; Lynch, H.; Lubinski, J.; Narod, S. A.: Founder mutations in BRCA1 and BRCA2 in North American families of Polish origin that are affected with breast cancer. (Letter) Am. J. Hum. Genet. 68: 546 only, 2001.
[009838]426.Dorum, A.; Heimdal, K.; Hovig, E.; Inganas, M.; Moller, P.: Penetrances of BRCA1 1675delA and 1135insA with respect to breast cancer and ovarian cancer. Am. J. Hum. Genet. 65: 671-679, 1999.
[009839]427.Dunning, A. M.; Chiano, M.; Smith, N. R.; Dearden, J.; Gore, M.; Oakes, S.; Wilson, C.; Stratton, M.; Peto, J.; Easton, D.; Clayton, D.; Ponder, B. A. J.: Common BRCA1 variants and susceptibility to breast and ovarian cancer in the general population. Hum. Molec. Genet. 6: 285-289, 1997.
[009840]428.Dorum, A.; Moller, P.; Kamsteeg, E. J.; Scheffer, H.; Burton, M.; Heimdal, K. R.; Maehle, L. O.; Hovig, E.; Trope, C. G.; van der Hout, A. H.; van der Meulen, M. A.; Buys, C. H. C. M.; te Meerman, G. J.: A BRCA1 founder mutation, identified with haplotype analysis, allowing genotype/phenotype determination and predictive testing. Europ. J. Cancer 33: 2390-2392, 1997.
[009841]429.Brahe, C.; Bannetta, P.; Meera Khan, P.; Arwert, F.; Serra, A. : Assignment of the catechol-O-methyltransferase gene to human chromosome 22 in somatic cell hybrids. Hum. Genet. 74: 230-234, 1986.
[009842]430.Brahe, C.; Bannetta, P.; Serra, A.; Arwert, F.: The increased COMT activity in Down syndrome patients is not a consequence of dosage effect owing to location of the gene on chromosome 21: further evidence. (Letter) Am. J. Med. Genet. 24: 203-204, 1986.
[009843]431.Masuno, M.; Fukao, T.; Song, X.-Q.; Yamaguchi, S.; Orii, T.; Kondo, N.; Imaizumi, K.; Kuroki, Y.: Assignment of the human cytosolic acetoacetyl-coenzyme A thiolase (ACAT2) gene to chromosome 6q25.3-q26. Genomics 36: 217-218, 1996.
[009844]432.Morel, Y.; Bristow, J.; Gitelman, S. E.; Miller, W. L.: Transcript encoded on the opposite strand of the human steroid 21-hydroxylase/complement component C4 gene locus. Proc. Nat. Acad. Sci. 86: 6582-6586, 1989.
[009845]433.Song, X.-Q.; Fukao, T.; Yamaguchi, S.; Miyazawa, S.; Hashimoto, T.; Orii, T.: Molecular cloning and nucleotide sequence of complementary DNA for human hepatic cytosolic acetoacetylcoenzyme A thiolase. Biochem. Biophys. Res. Commun. 201: 478-485, 1994.
[009846]434.Willison, K.; Kelly, A.; Dudley, K.; Goodfellow, P.; Spurr, N.; Groves, V.; Gorman, P.; Sheer, D.; Trowsdale, J.: The human homologue of the mouse t-complex gene, TCP1, is located on chromosome 6 but is not near the HLA region. EMBO J. 6: 1967-1974, 1987.
[009847]435.Engel, A. G.; Ohno, K.; Milone, M.; Wang, H.-L.; Nakano, S.; Bouzat, C.; Pruitt, J. N., II; Hutchinson, D. O.; Brengman, J. M.; Bren, N.; Sieb, J. P.; Sine, S. M.: New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome. Hum. Molec. Genet. 5: 1217-1227, 1996.
[009848]436.Lobos, E. A.: Five subunit genes of the human muscle nicotinic acetylcholine receptor are mapped to two linkage groups on chromosomes 2 and 17. Genomics 17: 642-650, 1993.
[009849]437.Deftos, L. J.; Murray, S. S.; Burton, D. W.; Parmer, R. J.; O'Connor, D. T.; Delegeane, A. M.; Mellon, P. L.: A cloned chromogranin A (CgA) cDNA detects a 2.3kb mRNA in diverse neuroendocrine tissues. Biochem. Biophys. Res. Commun. 137: 418-423, 1986.
[009850]438.Granberg, D.; Stridsberg, M.; Seensalu, R.; Eriksson, B.; Lundqvist, G.; Oberg, K.; Skogseid, B.: Plasma chromogranin A in patients with multiple endocrine neoplasia type 1. J. Clin. Endocr. Metab. 84: 2712-2717, 1999.
[009851]439.Hagn, C.; Schmid, K. W.; Fischer-Colbrie, R.; Winkler, H.: Chromogranin A, B, and C in human adrenal medulla and endocrine tissues. Lab. Invest. 55: 405-411, 1986.
[009852]440.Kim, T.; Tao-Cheng, J.-H.; Eiden, L. E.; Loh, Y. P.: Chromogranin A, an 'on/off' switch controlling dense-core secretory granule biogenesis. Cell 106: 499-509, 2001.
[009853]441.Konecki, D. S.; Benedum, U. M.; Gerdes, H.-H.; Huttner, W. B.: The primary structure of human chromogranin A and pancreastatin. J. Biol. Chem. 262: 17026-17030, 1987.
[009854]442.Kruggel, W.; O'Connor, D. T.; Lewis, R. V.: The amino terminal sequences of bovine and human chromogranin A and secretory protein I are identical. Biochem. Biophys. Res. Commun. 127: 380-383, 1985.
[009855]443.Modi, W. S.; Levine, M. A.; Dean, M.; Seuanez, H.; O'Brien, S. J.: The chromogranin A gene: chromosome assignment and RFLP analysis. (Abstract) Cytogenet. Cell Genet. 51: 1046 only, 1989.
[009856]444.Modi, W. S.; Levine, M. A.; Seuanez, H. N.; Dean, M.; O'Brien, S. J.: The human chromogranin A gene: chromosome assignment and RFLP analysis. Am. J. Hum. Genet. 45: 814-818, 1989.
[009857]445.Murray, S. S.; Deaven, L. L.; Burton, D. W.; O'Connor, D. T.; Mellon, P. L.; Deftos, L. J.: The gene for human chromogranin A (CgA) is located on chromosome 14. Biochem. Biophys. Res. Commun. 142: 141-146, 1987.
[009858]446.Nobels, F. R. E.; Kwekkeboom, D. J.; Coopmans, W.; Schoenmakers, C. H. H.; Lindemans, J.; De Herder, W. W.; Krenning, E. P.; Bouillon, R.; Lamberts, S. W. J.: Chromogranin A as serum marker for neuroendocrine neoplasia: comparison with neuron-specific enolase and the alphasubunit of glycoprotein hormones. J. Clin. Endocr. Metab. 82: 2622-2628, 1997.
[009859]447.O'Connor, D. T.; Deftos, L. J.: Secretion of chromogranin A by peptide-producing endocrine neoplasms. New Eng. J. Med. 314: 1145-1151, 1986.
[009860]448.Simon-Chazottes, D.; Wu, H.; Parmer, R. J.; Rozansky, D. J.; Szpirer, J.; Levan, G.; Kurtz, T. W.; Szpirer, C.; Guenet, J. L.; O'Connor, D. T.: Assignment of the chromogranin A (Chga) locus to homologous regions on mouse chromosome 12 and rat chromosome 6. Genomics 17: 252-255, 1993.
[009861]449.Wu, H.-J.; Rozansky, D. J.; Parmer, R. J.; Gill, B. M.; O'Connor, D. T.: Structure and function of the chromogranin A gene: clues to evolution and tissue-specific expression. J. Biol. Chem. 266: 13130-13134, 1991.
[009862]450.Benedum, U. M.; Lamouroux, A.; Konecki, D. S.; Rosa, P.; Hille, A.; Baeuerle, P. A.; Frank, R.; Lottspeich, F.; Mallet, J.; Huttner, W. B.: The primary structure of human secretogranin I (chromogranin B): comparison with chromogranin A reveals homologous terminal domains and a large intervening variable region. EMBO J. 6: 1203-1211, 1987.
[009863]451.Higashiyama, S.; Lau, K.; Besner, G. E.; Abraham, J. A.; Klagsbrun, M.: Structure of heparin-binding EGF-like growth factor: multiple forms, primary structure, and glycosylation of the mature protein. J. Biol. Chem. 267: 6205-6212, 1992.
[009864]452.Naglich, J. G.; Metherall, J. E.; Russell, D. W.; Eidels, L.: Expression cloning of a diphtheria toxin receptor: identity with a heparin-binding EGF-like growth factor precursor. Cell 69: 1051-1061, 1992.
[009865]453.Pappenheimer, A. M., Jr.: Diphtheria toxin. Ann. Rev. Biochem. 46: 69-94, 1977.
[009866]454.Pappenheimer, A. M., Jr.; Gill, D. M.: Diphtheria. Science 182: 353-358, 1973.
[009867]455.Pathak, B. G.; Gilbert, D. J.; Harrison, C. A.; Luetteke, N. C.; Chen, X.; Klagsbrun, M.; Plowman, G. D.; Copeland, N. G.; Jenkins, N. A.; Lee, D. C.: Mouse chromosomal location of three EGF receptor ligands: amphiregulin (Areg), betacellulin (Btc), and heparin-binding EGF (Hegfl). Genomics 28: 116-118, 1995.
[009868]456.Roberts, M.; Ruddle, F. H.: The Chinese hamster gene map: assignment of four genes (DTS, PGM2, 6PGD, Eno1) to chromosome 2. Exp. Cell Res. 127: 47-54, 1980.
[009869]457.Chabas, D.; Baranzini, S. E.; Mitchell, D.; Bernard, C. C. A.; Rittling, S. R.; Denhardt, D. T.; Sobel, R. A.; Lock, C.; Karpuj, M.; Pedotti, R.; Heller, R.; Oksenberg, J. R.; Steinman, L.: The influence of the proinflammatory cytokine, osteopontin, on autoimmune demyelinating disease. Science 294: 1731-1735, 2001.
[009870]458.Bowcock, A. M.; Hebert, J. M.; Christiano, A. M.; Wijsman, E.; Cavalli-Sforza, L. L.; Boyd, C. D.: The pro alpha 1 (IV) collagen gene is linked to the D13S3 locus at the distal end of human chromosome 13q. Cytogenet. Cell Genet. 45: 234-236, 1987.
[009871]459.Bowcock, A. M.; Hebert, J. M.; Wijsman, E.; Gadi, I.; Cavalli-Sforza, L. L.; Boyd, C. D.: High recombination between two physically close human basement membrane collagen genes at the distal end of chromosome 13q. Proc. Nat. Acad. Sci. 85: 2701-2705, 1988.
[009872]460.Boyd, C. D.; Weliky, K.; Toth-Fejel, S.; Deak, S. B.; Christiano, A. M.; Mackenzie, J. W.; Sandell, L. J.; Tryggvason, K.; Magenis, E.: The single copy gene coding for human alpha-1(IV) procollagen is located at the terminal end of the long arm of chromosome 13. Hum. Genet. 74: 121-125, 1986.
[009873]461.Brinker, J. M.; Gudas, L. J.; Loidl, H. R.; Wang, S.-Y.; Rosenbloom, J.; Kefalides, N. A.; Myers, J. C.: Restricted homology between human alpha-1 type IV and other procollagen chains. Proc. Nat. Acad. Sci. 82: 3649-3653, 1985.
[009874]462.Burbelo, P. D.; Martin, G. R.; Yamada, Y.: Alpha-1(IV) and alpha-2(IV) collagen genes are regulated by a bidirectional promoter and a shared enhancer. Proc. Nat. Acad. Sci. 85: 9679-9682, 1988.
[009875]463.Crouch, E.; Sage, H.; Bornstein, P.: Structural basis for apparent heterogeneity of collagens in human basement membranes: type IV procollagen contains two distinct chains. Proc. Nat. Acad. Sci. 77: 745-749, 1980.
[009876]464.Cutting, G. R.; Kazazian, H. H., Jr.; Antonarakis, S. E.; Killen, P. D.; Yamada, Y.; Francomano, C. A.: Macrorestriction analysis maps COL4A1 and COL4A2 collagen genes within a 400 kb region on chromosome 13q34. (Abstract) Am. J. Hum. Genet. 41: A163, 1987.
[009877]465.Cutting, G. R.; Kazazian, H. H., Jr.; Antonarakis, S. E.; Killen, P. D.; Yamada, Y.; Francomano, C. A.: Macrorestriction mapping of COL4A1 and COL4A2 collagen genes on human chromosome 13q34. Genomics 3: 256-263, 1988.
[009878]466.Emanuel, B. S.; Sellinger, B. T.; Gudas, L. J.; Myers, J. C.: Localization of the human procollagen alpha-1(IV) gene to chromosome 13q34 by in situ hybridization. Am. J. Hum. Genet. 38: 38-44, 1986.
[009879]467.Hebert, J. M.; Bowcock, A. M.; Wijsman, E.; Gadi, I.; Boyd, C.; Cavalli-Sforza, L. L.: The genes for pro-alpha-1 (IV) collagen, pro-alpha-2 (IV) collagen and the D13S3 locus are linked at 13q34. (Abstract) Am. J. Hum. Genet. 41: A169, 1987.
[009880]468.Kuhn, K.: Personal Communication. Munich, Germany 1/7/1982.
[009881]469.Mayne, R.; Wiedemann, H.; Irwin, M. H.; Sanderson, R. D.; Fitch, J. M.; Linsenmayer, T. F.; Kuhn, K.: Monoclonal antibodies against chicken type IV and V collagens: electron microscopic mapping of the epitopes after rotary shadowing. J. Cell Biol. 98: 1637-1644, 1984.
[009882]470.Pihlajaniemi, T.; Tryggvason, K.; Myers, J. C.; Kurkinen, M.; Lebo, R.; Cheung, M.-C.; Prockop, D. J.; Boyd, C. D.: cDNA clones coding for the pro-alpha-1(IV) chain of human type IV procollagen reveal an unusual homology of amino acid sequences in two halves of the carboxyl terminal domain. J. Biol. Chem. 260: 7681-7687, 1985.
[009883]471.Poschl, E.; Pollner, R.; Kuhn, K.: The genes for the alpha-1(IV) and alpha-2(IV) chains of human basement membrane collagen type IV are arranged head-to-head and separated by a bidirectional promoter of unique structure. EMBO J. 7: 2687-2695, 1988.
[009884]472.Soininen, R.; Chow, L.; Kurkinen, M.; Tryggvason, K.; Prockop, D. J.: The gene for the alpha-1(IV) chain of human type IV procollagen: the exon structures do not coincide with the two structural subdomains in the globular carboxy-terminus of the protein. EMBO J. 5: 2821-2823, 1986.
[009885]473.Soininen, R.; Huotari, M.; Hostikka, S. L.; Prockop, D. J.; Tryggvason, K.: The structural genes for alpha-1 and alpha-2 chains of human type IV collagen are divergently encoded on opposite DNA strands and have an overlapping promoter region. J. Biol. Chem. 263: 17217-17220, 1988.
[009886]474.Soininen, R.; Tikka, L.; Chow, L.; Pihlajaniemi, T.; Kurkinen, M.; Prockop, D. J.; Boyd, C. D.; Tryggvason, K.: Large introns in the 3-prime end of the gene for the pro-alpha1(IV) chain of human basement membrane collagen. Proc. Nat. Acad. Sci. 83: 1568-1572, 1986.
[009887]475.Karoui, M.; Hofmann-Radvanyi, H.; Zimmermann, U.; Couvelard, A.; Degott, C.; Faridoni-Laurens, L.; Ahomadegbe, J.-C.; Gazzeri, S.; Brambilla, E.; Clerici, T.; Charbonnier, P.; Tresallet, C.; and 8 others: No evidence of somatic FGFR3 mutation in various types of carcinoma. Oncogene 20: 5059-5061, 2001.
[009888]476.Keegan, K.; Johnson, D. E.; Williams, L. T.; Hayman, M. J.: Isolation of an additional member of the fibroblast growth factor receptor family, FGFR-3. Proc. Nat. Acad. Sci. 88: 1095-1099, 1991.
[009889]477.Kimura, T.; Suzuki, H.; Ohashi, T.; Kiyota, H.; Eto, Y.: The incidence of thanatophoric dysplasia mutations in FGFR3 bladder carcinomas. Cancer 92: 2555-2561, 2001.
[009890]478.Kitoh, H.; Brodie, S. G.; Kupke, K. G.; Lachman, R. S.; Wilcox, W. R.: Lys650-to-met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor gene causes thanatophoric dysplasia type I. (Abstract) Hum. Mutat. 12: 362-363, 1998.
[009891]479.Lajeunie, E.; El Ghouzzi, V.; Le Merrer, M.; Munnich, A.; Bonaventure, J.; Renier, D.: Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation. J. Med. Genet. 36: 9-13, 1999.
[009892]480.Lanning, R. W.; Brown, C. A.: An improved methodology for the detection of the common mutation in the FGFR3 gene responsible for achondroplasia. Hum. Mutat. 10: 496-499, 1997.
[009893]481.Li, C.; Chen, L.; Iwata, T.; Kitagawa, M.; Fu, X.-Y.; Deng, C.-X. : A Lys644Glu substitution in fibroblast growth factor receptor 3 (FGFR3) causes dwarfism in mice by activation of STATs and ink4 cell cycle inhibitors. Hum. Molec. Genet. 8: 35-44, 1999.
[009894]482.Lowry, R. B.; Jabs, E. W.; Graham, G. E.; Gerritsen, J.; Fleming, J.: Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and Sprengel shoulder with and without pro250arg mutation in the FGFR3 gene. Am. J. Med. Genet. 104: 112-119, 2001.
[009895]483.McKusick, V. A.; Kelly, T. E.; Dorst, J. P.: Observations suggesting allelism of the achondroplasia and hypochondroplasia genes. J. Med. Genet. 10: 11-16, 1973.
[009896]484.Moloney, D. M.; Slaney, S. F.; Oldridge, M.; Wall, S. A.; Sahlin, P.; Stenman, G.; Wilkie, A. O. M.: Exclusive paternal origin of new mutations in Apert syndrome. Nature Genet. 13: 48-53, 1996.
[009897]485.Moloney, D. M.; Wall, S. A.; Ashworth, G. J.; Oldridge, M.; Glass, I. A.; Francomano, C. A.; Muenke, M.; Wilkie, A. O. M.: Prevalence of pro250arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis. Lancet 349: 1059-1062, 1997.
[009898]486.Monsonego-Ornan, E.; Adar, R.; Feferman, T.; Segev, O.; Yayon, A.: The transmembrane mutation G380R in fibroblast growth factor receptor 3 uncouples ligand-mediated receptor activation from down-regulation. Molec. Cell. Biol. 20: 516-522, 2000.
[009899]487.Mortier, G.; Nuytinck, L.; Craen, M.; Renard, J.-P.; Leroy, J. G.; De Paepe, A.: Clinical and radiographic features of a family with hypochondroplasia owing to a novel asn540ser mutation in the fibroblast growth factor receptor 3 gene. J. Med. Genet. 37: 220-224, 2000.
[009900]488.Muenke, M.; Gripp, K. W.; McDonald-McGinn, D. M.; Gaudenz, K.; Whitaker, L. A.; Bartlett, S. P.; Markowitz, R. I.; Robin, N. H.; Nwokoro, N.; Mulvihill, J. J.; Losken, W.; Mulliken, J. B.; Guttmacher, A. E.; Wilroy, R. S.; Clarke, L. A.; Hollway, G.; Ades, L. C.; Haan, E. A.; Mulley, J. C.; Cohen, M. M., Jr.; Bellus, G. A.; Francomano, C. A.; Moloney, D. M.; Wall, S. A.; Wilkie, A. O. M.; Zackai, E. H. : A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. Am. J. Hum. Genet. 60: 555-564, 1997.
[009901]489.Naski, M. C.; Wang, Q.; Xu, J.; Ornitz, D. M.: Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia. Nature Genet. 13: 233-237, 1996.
[009902]490.Nishimura, G.; Fukushima, Y.; Ohashi, H.; Ikegawa, S.: Atypical radiological findings in achondroplasia with uncommon mutation of the fibroblast growth factor receptor-3 (FGFR-3) gene (gly to cys transition at codon 375). (Letter) Am. J. Med. Genet. 59: 393-395, 1995.
[009903]491.Nishimura, G.; Takada, F.: Another observation of atypical radiologic findings in achondroplasia not due to a common mutation of the FGFR-3 gene: reply to Dr. Gorlin. (Letter) Am. J. Med. Genet. 70: 203-205, 1997.
[009904]492.Orlow, S. J.: Cutaneous findings in craniofacial malformation syndromes. Arch. Derm. 128: 1379-1386, 1992.
[009905]493.Passos-Bueno, M. R.; Wilcox, W. R.; Jabs, E. W.; Sertie, A. L.; Alonso, L. G.; Kitoh, H.: Clinical spectrum of fibroblast growth factor receptor mutations. Hum. Mutat. 14: 115-125, 1999.
[009906]494.Paznekas, W. A.; Cunningham, M. L.; Howard, T. D.; Korf, B. R.; Lipson, M. H.; Grix, A. W.; Feingold, M.; Goldberg, R.; Borochowitz, Z.; Aleck, K.; Mulliken, J.; Yin, M.; Jabs, E. W.: Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. Am. J. Hum. Genet. 62: 1370-1380, 1998.
[009907]495.Perez-Castro, A. V.; Wilson, J.; Altherr, M. R.: Genomic organization of the human fibroblast growth factor receptor 3 (FGFR3) gene and comparative sequence analysis with the mouse Fgfr3 gene. Genomics 41: 10-16, 1997.
[009908]496.Pokharel, R. K.; Alimsardjono, H.; Takeshima, Y.; Nakamura, H.; Naritomi, K.; Hirose, S.; Onishi, S.; Matsuo, M.: Japanese cases of type 1 thanatophoric dysplasia exclusively carry a C to T transition at nucleotide 742 of the fibroblast growth factor receptor 3 gene. Biochem. Biophys. Res. Commun. 227: 236-239, 1996.
[009909]497.Prinos, P.; Costa, T.; Sommer, A.; Kilpatrick, M. W.; Tsipouras, P.: A common FGFR3 gene mutation in hypochondroplasia. Hum. Molec. Genet. 4: 2097-2101, 1995.
[009910]498.Prinster, C.; Carrera, P.; Del Maschio, M.; Weber, G.; Maghnie, M.; Vigone, M. C.; Mora, S.; Tonini, G.; Rigon, F.; Beluffi, G.; Severi, F.; Chiumello, G.; Ferrari, M.: Comparison of clinicalradiological and molecular findings in hypochondroplasia. Am. J. Med. Gen. 75: 109-112, 1998.
[009911]499.Ramaswami, U.; Rumsby, G.; Hindmarsh, P. C.; Brook, C. G. D.: Genotype and phenotype in hypochondroplasia. J. Pediat. 133: 99-102, 1998.
[009912]500.Rasmussen, T.; Hudlebusch, H. R.; Knudsen, L. M.; Johnsen, H. E.: FGFR3 dysregulation in multiple myeloma: frequency and prognostic relevance. Br. J. Haematol. 117: 626-628, 2002.
[009913]501.Fritsch, P.; Honigsmann, H.; Jaschke, E.: Epidermolytic hereditary palmoplantar keratoderma. Brit. J. Derm. 99: 561-568, 1978.
[009914]502.Jutel, M.; Watanabe, T.; Klunker, S.; Akdis, M.; Thomet, O. A. R.; Malolepszy, J.; Zak-Nejmark, T.; Koga, R.; Kobayashi, T.; Blaser, K.; Akdis, C. A.: Histamine regulates T-cell and antibody responses by differential expression of H1 and H2 receptors. Nature 413: 420-425, 2001.
[009915]503.Doenecke, D.; Tonjes, R.: Differential distribution of lysine and arginine residues in the closely related histones H1 and H5. Analysis of a human H1 gene. J. Molec. Biol. 187: 461-464, 1986.
[009916]504.Gamborg Nielsen, P.: Two different clinical and genetic forms of hereditary palmoplantar keratoderma in the northernmost county of Sweden. Clin. Genet. 28: 361-366, 1985.
[009917]505.Goette, D. K.: Familial congenital epidermolytic hyperkeratosis confined to the palms and soles. Sth. Med. J. 67: 1126-1128, 1974.
[009918]506.Greither, A.: Keratosis extremitatum hereditaria progrediens mit dominantem Erbgang. Hautarzt 3: 198-203, 1952.
[009919]507.Hennies, H.-C.; Zehender, D.; Kunze, J.; Kuster, W.; Reis, A. : Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma. Hum. Genet. 93: 649-654, 1994.
[009920]508.Hennies, H. C.; Kuster, W.; Langbein, L.; Digweed, M.; Mischke, D.; Franke, W. W.; Sperling, K.; Reis, A.: Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK). (Abstract) Am. J. Hum. Genet. 53 (suppl.): A211, 1993.
[009921]509.Klaus, S.; Weinstein, G. D.; Frost, P.: Localized epidermolytic hyperkeratosis: a form of keratoderma of the palms and soles. Arch. Derm. 101: 272-275, 1970.
[009922]510.Klintworth, G. K.; Anderson, I. F.: Tylosis palmaris et plantaris familiaris associated with clinodactyly. S. Afr. Med. J. 35: 170-175, 1961.
[009923]511.Kobayashi, S.; Tanaka, T.; Matsuyoshi, N.; Imamura, S.: Keratin 9 point mutation in the pedigree of epidermolytic hereditary palmoplantar keratoderma perturbs keratin intermediate filament network formation. FEBS Lett. 386: 149-155, 1996.
[009924]512.Kuster, W.; Becker, A.: Indication for the identity of palmoplantar keratoderma type Unna-Thost with type Vorner: Thost's family revisited 110 years later. Acta Derm. Venerol. 72: 120-122, 1992.
[009925]513.Moriwaki, S.; Tanaka, T.; Horiguchi, Y.; Danno, K.; Imamura, S. : Epidermolytic hereditary palmoplantar keratoderma: histologic, ultrastructural, protein-chemical, and DNA analysis in two patients. Arch. Derm. 124: 555-559, 1988.
[009926]514.Nogita, T.; Nakagawa, H.; Ishibashi, Y.: Hereditary epidermolytic palmoplantar keratoderma with knuckle pad-like lesions over the finger joints. (Letter) Brit. J. Derm. 125: 496, 1991.
[009927]515.Reis, A.; Hennies, H.-C.; Langbein, L.; Digweed, M.; Mischke, D.; Drechsler, M.; Schrock, E.; Royer-Pokora, B.; Franke, W. W.; Sperling, K.; Kuster, W.: Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK). Nature Genet. 6: 174-179, 1994.
[009928]516.Reis, A.; Kuster, W.; Eckardt, R.; Sperling, K.: Mapping of a gene for epidermolytic palmoplantar keratoderma to the region of the acidic keratin gene cluster at 17q12-q21. Hum. Genet. 90: 113-116, 1992.
[009929]517.Rogaev, E. I.; Rogaeva, E. A.; Ginter, E. K.; Korovaitseva, G. I.; Farrer, L. A.; Shlensky, A. B.; Pritkov, A. N.; Mordovtsev, V. N.; St. George-Hyslop, P. H.: Identification of the genetic locus for keratosis palmaris et plantaris on chromosome 17 near the RARA and keratin type I genes. Nature Genet. 5: 158-162, 1993.
[009930]518.Rothnagel, J. A.; Wojcik, S.; Liefer, K. M.; Dominey, A. M.; Huber, M.; Hohl, D.; Roop, D. R.: Mutations in the 1A domain of keratin 9 in patients with epidermolytic palmoplantar keratoderma. J. Invest. Derm. 104: 430-433, 1995.
[009931]519.Stevens, H. P.; Rustin, M. H. A.; MacDermot, K.: Keratosis punctata palmaris et plantaris: an autosomal dominantly inherited keratoderma associated with malignancy. (Abstract) J. Med. Genet. 31: 168 only, 1994.
[009932]520.Thost, A.: Ueber erbliche Ichthyosis palmaris et plantaris cornea. Dissertation: Heidelberg (pub.) 1880.
[009933]521.Torchard, D.; Blanchet-Bardon, C.; Serova, O.; Langbein, L.; Narod, S.; Janin, N.; Goguel, A. F.; Bernheim, A.; Franke, W. W.; Lenoir, G. M.; Feunteun, J.: Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer. Nature Genet. 6: 106-110, 1994.
[009934]522.Unna, P. G.: Ueber das Keratoma palmare et plantare hereditarium. Arch. Derm. Syph. 15: 231-270, 1883.
[009935]523.Vorner, H.: Zur Kenntniss des Keratoma hereditarium palmare et plantare. Arch. Derm. Syph. 56: 3-31, 1901.
[009936]524.Geurts, J. M. W.; Janssen, R. G. J. H.; van Greevenbroek, M. M. J.; van der Kallen, C. J. H.; Cantor, R. M.; Bu, X.; Aouizerat, B. E.; Allayee, H.; Rotter, J. I.; de Bruin, T. W. A.: Identification of TNFRSF1B as a novel modifier gene in familial combined hyperlipidemia. Hum. Molec. Genet. 9: 2067-2074, 2000.
[009937]525.Hatzivassiliou, G.; Miller, I.; Takizawa, J.; Palanisamy, N.; Rao, P. H.; Iida, S.; Tagawa, S.; Taniwaki, M.; Russo, J.; Neri, A.; Cattoretti, G.; Clynes, R.; Mendelsohn, C.; Chaganti, R. S. K.; Dalla-Favera, R.: IRTA1 and IRTA2, novel immunoglobulin superfamily receptors expressed in B cells and involved in chromosome 1q21 abnormalities in B cell malignancy. Immunity 14: 277-289, 2001.
[009938]526.Mollereau, C.; Muscatelli, F.; Mattei, M.-G.; Vassart, G.; Parmentier, M.: The high-affinity interleukin 8 receptor gene (IL8RA) maps to the 2q33-q36 region of the human genome: cloning of a pseudogene (IL8RBP) for the low-affinity receptor. Genomics 16: 248-251, 1993.
[009939]527.Morris, S. W.; Nelson, N.; Valentine, M. B.; Shapiro, D. N.; Look, A. T.; Kozlosky, C. J.; Beckmann, M. P.; Cerretti, D. P.: Assignment of the genes encoding human interleukin-8 receptor types 1 and 2 and an interleukin-8 receptor pseudogene to chromosome 2q35. Genomics 14: 685-691, 1992.
[009940]528.Palter, S. F.; Mulayim, N.; Senturk, L.; Arici, A.: Interleukin-8 in the human fallopian tube. J. Clin. Endocr. Metab. 86: 2660-2667, 2001.
[009941]529.Dixon, M. J.; Gazzard, J.; Chaudhry, S. S.; Sampson, N.; Schulte, B. A.; Steel, K. P.: Mutation of the Na-K-Cl co-transporter gene Slc12a2 results in deafness in mice. Hum. Molec. Genet. 8: 1579-1584, 1999.
[009942]530.Kainulainen, K.; Karttunen, L.; Puhakka, L.; Sakai, L.; Peltonen, L.: Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome. Nature Genet. 6: 64-69, 1994.
[009943]531.Li, X.; Pereira, L.; Zhang, H.; Sanguineti, C.; Ramirez, F.; Bonadio, J.; Francke, U.: Fibrillin genes map to regions of conserved mouse/human synteny on mouse chromosomes 2 and 18. Genomics 18: 667-672, 1993.
[009944]532.Soufir, N.; Avril, M. F.; Chompret, A.; Demenais, F.; Bombled, J.; Spatz, A.; Stoppa-Lyonnet, D.; Benard, J.; Bressac-de Paillerets, B.: Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France: the French Familial Melanoma Study Group. Hum. Molec. Genet. 7: 209-216, 1998.
[009945]533.Dedhar, S.; Rennie, P. S.; Shago, M.; Hagesteijn, C.-Y. L.; Yang, H.; Filmus, J.; Hawley, R. G.; Bruchovsky, N.; Cheng, H.; Matusik, R. J.; Giguere, V.: Inhibition of nuclear hormone receptor activity by calreticulin. Nature 367: 480-483, 1994.
[009946]534.Bastiaens, M. T.; ter Huurne, J. A. C.; Kielich, C.; Gruis, N. A.; Westendorp, R. G. J.; Vermeer, B. J.; Bavinck, J. N. B.; Leiden Skin Cancer Study Team: Melanocortin-1 receptor gene variants determine the risk of nonmelanoma skin cancer independently of fair skin and red hair. Am. J. Hum. Genet. 68: 884-894, 2001.
[009947]535.Rose, P. M.; Fernandes, P.; Lynch, J. S.; Frazier, S. T.; Fisher, S. M.; Kodukula, K.; Kienzle, B.; Seethala, R.: Cloning and functional expression of a cDNA encoding a human type 2 neuropeptide Y receptor. J. Biol. Chem. 270: 22661-22664, 1995.
[009948]536.Hovnanian, A.; Rebouillat, D.; Mattei, M.-G.; Levy, E. R.; Marie, I.; Monaco, A. P.; Hovanessian, A. G.: The human 2-prime,5-prime-oligoadenylate synthetase locus is composed of three distinct genes clustered on chromosome 12q24.2 encoding the 100-, 69-, and 40-kDa forms. Genomics 52: 267-277, 1998.
[009949]537.Frank, M. B.: Personal Communication. Oklahoma City, Okla. 6/3/1994.
[009950]538.Itoh, K.; Itoh, Y.; Frank, M. B.: Protein heterogeneity in the human Ro/SSA ribonucleoproteins: the 52- and 60-kD Ro/SSA autoantigens are encoded by separate genes. J. Clin. Invest. 87: 177-186, 1991.
[009951]539.McCauliffe, D. P.; Lux, F. A.; Lieu, T.-S.; Sanz, I.; Hanke, J.; Newkirk, M. M.; Bachinski, L. L.; Itoh, Y.; Siciliano, M. J.; Reichlin, M.; Sontheimer, R. D.; Capra, J. D.: Molecular cloning, expression, and chromosome 19 localization of a human Ro/SS-A autoantigen. J. Clin. Invest. 85: 1379-1391, 1990.
[009952]540.McCauliffe, D. P.; Zappi, E.; Lieu, T.-S.; Michalak, M.; Sontheimer, R. D.; Capra, J. D.: A human Ro/SS-A autoantigen is the homologue of calreticulin and is highly homologous with onchocercal RAL-1 antigen and an aplysia 'memory molecule.'. J. Clin. Invest. 86: 332-335, 1990.
[009953]541.Orth, T.; Dorner, T.; Meyer Zum Buschenfelde, K.-H.; Mayet, W.-J. : Complete congenital heart block is associated with increased autoantibody titers against calreticulin. Europ. J. Clin. Invest. 26: 205-215, 1996.
[009954]542.Rooke, K.; Briquet-Laugier, V.; Xia, Y.-R.; Lusis, A. J.; Doolittle, M. H.: Mapping of the gene for calreticulin (Calr) to mouse chromosome 8. Mammalian Genome 8: 870-871, 1997.
[009955]543.Frank, M. B.; Itoh, K.; Fujisaku, A.; Pontarotti, P.; Mattei, M.-G.; Neas, B. R.: The mapping of the human 52-kD Ro/SSA autoantigen gene to human chromosome 11, and its polymorphisms. Am. J. Hum. Genet. 52: 183-191, 1993.
[009956]544.Frank, M. B.; Mattei, M.-G.: Mapping of the human 60000 M(r) Ro/SSA locus: the genes for three Ro/SSA autoantigens are located on separate chromosomes. Immunogenetics 39: 428-431, 1994.
[009957]545.Schoenlebe, J.; Buyon, J. P.; Zitelli, B. J.; Friedman, D.; Greco, M. A.; Knisely, A. S.: Neonatal hemochromatosis associated with maternal autoantibodies against Ro/SS-A and La/SS-B ribonucleoproteins. Am. J. Dis. Child. 147: 1072-1075, 1993.
[009958]546.Maclaren, N. K.; Riley, W. J.: Inherited susceptibility to autoimmune Addison's disease is linked to human leukocyte antigens-DR3 and/or DR4, except when associated with type I autoimmune polyglandular syndrome. J. Clin. Endocr. Metab. 62: 455-459, 1986.
[009959]547.Wang, Y. A.; Elson, A.; Leder, P.: Loss of p21 increases sensitivity to ionizing radiation and delays the onset of lymphoma in atm-deficient mice. Proc. Nat. Acad. Sci. 94: 14590-14595, 1997.
[009960]548.Zakut, R.; Givol, D.: The tumor suppression function of p21(Waf) is contained in its Nterminal half ('half-WAF'). Oncogene 11: 393-395, 1995.
[009961]549.Boden, P.; Hall, M. D.; Hughes, J.: Cholecystokinin receptors. Cell. Molec. Neurobiol. 15: 545-559, 1995.
[009962]550.de Weerth, A.; Pisegna, J. R.; Huppi, K.; Wank, S. A.: Molecular cloning, functional expression and chromosomal localization of the human cholecystokinin type A receptor. Biochem. Biophys. Res. Commun. 194: 811-818, 1993.
[009963]551.Funakoshi, A.; Miyasaka, K.; Shinozaki, H.; Masuda, M.; Kawanami, T.; Takata, Y.; Kono, A.: An animal model of congenital defect of gene expression of cholecystokinin (CCK)-A receptor. Biochem. Biophys. Res. Commun. 210: 787-796, 1995.
[009964]552.Hamann, A.; Busing, B.; Munzberg, H.; de Weerth, A.; Hinney, A.; Mayer, H.; Siegfried, W.; Hebebrand, J.; Greten, H.: Missense variants in the human cholecystokinin type A receptor gene: no evidence for association with early-onset obesity. Horm. Metab. Res. 31: 287-288, 1999.
[009965]553.Huppi, K.; Siwarski, D.; Pisegna, J. R.; Wank, S.: Chromosomal localization of the gastric and brain receptors for cholecystokinin (CCKAR and CCKBR) in human and mouse. Genomics 25: 727-729, 1995.
[009966]554.Inoue, H.; Iannotti, C. A.; Welling, C. M.; Veile, R.; Donis-Keller, H.; Permutt, M. A.: Human cholecystokinin type A receptor gene: cytogenetic localization, physical mapping, and identification of two missense variants in patients with obesity and non-insulin-dependent diabetes mellitus (NIDDM). Genomics 42: 331-335, 1997.
[009967]555.Marchal-Victorion, S.; Vionnet, N.; Escrieut, C.; Dematos, F.; Dina, C.; Dufresne, M.; Vaysse, N.; Pradayrol, L.; Froguel, P.; Fourmy, D.: Genetic, pharmacological and functional analysis of cholecystokinin-1 and cholecystokinin-2 receptor polymorphism in type 2 diabetes and obese patients. Pharmacogenetics 12: 23-30, 2002.
[009968]556.Miller, L. J.; Holicky, E. L.; Ulrich, C. D.; Wieben, E. D.: Abnormal processing of the human cholecystokinin receptor gene in association with gallstones and obesity. Gastroenterology 109: 1375-1380, 1995.
[009969]557.Samuelson, L. C.; Isakoff, M. S.; Lacourse, K. A.: Localization of the murine cholecystokinin A and B receptor genes. Mammalian Genome 6: 242-246, 1995.
[009970]558.Ulrich, C. D.; Ferber, I.; Holicky, E.; Hadac, E.; Buell, G.; Miller, L. J.: Molecular cloning and functional expression of the human gallbladder cholecystokinin A receptor. Biochem. Biophys. Res. Commun. 193: 204-211, 1993.
[009971]559.Beinborn, M.; Lee, Y.-M.; McBride, E. W.; Quinn, S. M.; Kopin, A. S.: A single amino acid of the cholecystokinin-B/gastrin receptor determines specificity for non-peptide antagonists. Nature 362: 348-350, 1993.
[009972]560.Lee, Y.-M.; Beinborn, M.; McBride, E. W.; Lu, M.; Kolakowski, L. F., Jr.; Kopin, A. S.: The human brain cholecystokinin-B/gastrin receptor: cloning and characterization. J. Biol. Chem. 268: 8164-8169, 1993.
[009973]561.Pisegna, J. R.; de Weerth, A.; Huppi, K.; Wank, S. A.: Molecular cloning of the human brain and gastric cholecystokinin receptor: structure, functional expression and chromosomal localization. Biochem. Biophys. Res. Commun. 189: 296-303, 1992.
[009974]562.Samuelson, L. C.; Isakoff, M. S.; Lacourse, K. A.: Localization of the murine cholecystokinin A and B receptor genes. Mammalian Genome 6: 242-246, 1995.
[009975]563.Zimonjic, D. B.; Popescu, N. C.; Matsui, T.; Ito, M.; Chihara, K.: Localization of the human cholecystokinin-B/gastrin receptor gene (CCKBR) to chromosome 11p15.5-p15.4 by fluorescence in situ hybridization. Cytogenet. Cell Genet. 65: 184-185, 1994.
[009976]564.Butkowski, R. J.; Langeveld, J. P. M.; Wieslander, J.; Hamilton, J.; Hudson, B. G.: Localization of the Goodpasture epitope to a novel chain of basement membrane collagen. J. Biol. Chem. 262: 7874-7877, 1987.
[009977]565.Butkowski, R. J.; Wieslander, J.; Kleppel, M.; Michael, A. F.; Fish, A. J.: Basement membrane collagen in the kidney: regional localization of novel chains related to collagen IV. Kidney Int. 35: 1195-1202, 1989.
[009978]566.Cosgrove, D.; Meehan, D. T.; Grunkemeyer, J. A.; Kornak, J. M.; Sayers, R.; Hunter, W. J.; Samuelson, G. C.: Collagen COL4A3 knockout: a mouse model for autosomal Alport syndrome. Genes Dev. 10: 2981-2992, 1996.
[009979]567.Finielz, P.; Cartault, F.; Chuet, C.; Genin, R.: Alport syndrome in Reunion Island: phenotypic heterogeneity of the recessive-autosomal form. (Letter) Nephron 79: 237 only, 1998.
[009980]568.Han, J.; Ohno, N.; Pasco, S.; Monboisse, J.-C.; Borel, J. P.; Kefalides, N. A.: A cell binding domain from the alpha-3 chain of type IV collagen inhibits proliferation of melanoma cells. J. Biol. Chem. 272: 20395-20401, 1997.
[009981]569.Hellmark, T.; Burkhardt, H.; Wieslander, J.: Goodpasture disease: characterization of a single conformational epitope as the target of pathogenic autoantibodies. J. Biol. Chem. 274: 25862-25868, 1999.
[009982]570.Hudson, B. G.; Kalluri, R.; Gunwar, S.; Weber, M.; Ballester, F.; Hudson, J. K.; Noelken, M. E.; Sarras, M.; Richardson, W. R.; Saus, J.; Abrahamson, D. R.; Glick, A. D.; Haralson, M. A.; Helderman, J. H.; Stone, W. J.; Jacobson, H. R.: The pathogenesis of Alport syndrome involves type IV collagen molecules containing the alpha-3(IV) chain: evidence from anti-GBM nephritis after renal transplantation. Kidney Int. 42: 179-187, 1992.
[009983]571.Kalluri, R.; Gattone, V. H., II; Noelken, M. E.; Hudson, B. G. : The alpha-3 chain of type IV collagen induces autoimmune Goodpasture syndrome. Proc. Nat. Acad. Sci. 91: 6201-6205, 1994.
[009984]572.Lemmink, H. H.; Schroder, C. H.; Monners, L. A. H.; Smeets, H. J. M.: The clinical spectrum of type IV collagen mutations. Hum. Mutat. 9: 477-499, 1997.
[009985]573.Lu, W.; Phillips, C. L.; Killen, P. D.; Hlaing, T.; Harrison, W. R.; Elder, F. F. B.; Miner, J. H.; Overbeek, P. A.; Meisler, M. H.: Insertional mutation of the collagen genes Col4a3 and Col4a4 in a mouse model of Alport syndrome. Genomics 61: 113-124, 1999.
[009986]574.Maeshima, Y.; Colorado, P. C.; Kalluri, R.: Two RGD-independent alpha-V-beta-3 integrin binding sites on tumstatin regulate distinct anti-tumor properties. J. Biol. Chem. 275: 23745-23750, 2000.
[009987]575.Maeshima, Y.; Colorado, P. C.; Torre, A.; Holthaus, K. A.; Grunkemeyer, J. A.; Ericksen, M. B.; Hopfer, H.; Xiao, Y.; Stillman, I. E.; Kalluri, R.: Distinct antitumor properties of a type IV collagen domain derived from basement membrane. J. Biol. Chem. 275: 21340-21348, 2000.
[009988]576.Maeshima, Y.; Sudhakar, A.; Lively, J. C.; Ueki, K.; Kharbanda, S.; Kahn, C. R.; Sonenberg, N.; Hynes, R. O.; Kalluri, R.: Tumstatin, an endothelial cell-specific inhibitor of protein synthesis. Science 295: 140-143, 2002.
[009989]577.Maeshima, Y.; Yerramalla, U. L.; Dhanabal, M.; Holthaus, K. A.; Barbashov, S.; Kharbanda, S.; Reimer, C.; Manfredi, M.; Dickerson, W. M.; Kalluri, R.: Extracellular matrix-derived peptide binds to alpha-V-beta-3 integrin and inhibits angiogenesis. J. Biol. Chem. 276: 31959-31968, 2001.
[009990]578.Mochizuki, T.; Lemmink, H. H.; Mariyama, M.; Antignac, C.; Gubler, M.-C.; Pirson, Y.; Verellen-Dumoulin, C.; Chan, B.; Schroder, C. H.; Smeets, H. J.; Reeders, S. T.: Identification of mutations in the alpha-3(IV) and alpha-4(IV) collagen genes in autosomal recessive Alport syndrome. Nature Genet. 8: 77-81, 1994.
[009991]579.Morrison, K. E.; Mariyama, M.; Yang-Feng, T. L.; Reeders, S. T. : Sequence and localization of a partial cDNA encoding the human alpha3 chain of type IV collagen. Am. J. Hum. Genet. 49: 545-554, 1991.
[009992]580.Quinones, S.; Bernal, D.; Garcia-Sogo, M.; Elena, S. F.; Saus, J.: Exon/intron structure of the human alpha-3(IV) gene encompassing the Goodpasture antigen (alpha-3(IV)NC1): identification of a potentially antigenic region at the triple helix/NC1 domain junction. J. Biol. Chem. 267: 19780-19784, 1992.
[009993]581.Saus, J.; Wieslander, J.; Langeveld, J. P. M.; Quinones, S.; Hudson, B. G.: Identification of the Goodpasture antigen as the alpha-3(IV) chain of collagen IV. J. Biol. Chem. 263: 13374-13380, 1988.
[009994]582.Shahan, T. A.; Ziaie, Z.; Pasco, S.; Fawzi, A.; Bellon, G.; Monboisse, J.-C.; Kefalides, N. A.: Identification of CD47/integrin-associated protein and alpha-v-beta-3 as two receptors for the alpha-3(IV) chain of type IV collagen on tumor cells. Cancer Res. 59: 4584-4590, 1999.
[009995]583.Thorner, P. S.; Zheng, K.; Kalluri, R.; Jacobs, R.; Hudson, B. G.: Coordinate gene expression of the alpha-3, alpha-4, and alpha-5 chains of collagen type IV. J. Biol. Chem. 271: 13821-13828, 1996.
[009996]584.Bora, N. S.; Lublin, D. M.; Kumar, B. V.; Hockett, R. D.; Holers, V. M.; Atkinson, J. P.: Structural gene for human membrane cofactor protein (MCP) of complement maps to within 100 kb of the 3-prime end of the C3b/C4b receptor gene. J. Exp. Med. 169: 597-602, 1989.
[009997]585.Cui, W.; Hourcade, D.; Post, T.; Greenlund, A. C.; Atkinson, J. P.; Kumar, V.: Characterization of the promoter region of the membrane cofactor protein (CD46) gene of the human complement system and comparison to a membrane cofactor protein-like genetic element. J. Immun. 151: 4137-4146, 1993.
[009998]586.Dorig, R. E.; Marcil, A.; Chopra, A.; Richardson, C. D.: The human CD46 molecule is a receptor for measles virus (Edmonston strain). Cell 75: 295-305, 1993.
[009999]587.Kallstrom, H.; Gill, D. B.; Albiger, B.; Liszewski, M. K.; Atkinson, J. P.; Jonsson, A.-B.: Attachment of Neisseria gonorrhoeae to the cellular pilus receptor CD46: identification of domains important for bacterial adherence. Cell. Microbiol. 3: 133-143, 2001.
[0010000]588.Lublin, D. M.; Liszewski, M. K.; Post, T. W.; Arce, M. A.; LeBeau, M. M.; Rebentisch, M. B.; Lemons, R. S.; Seya, T.; Atkinson, J. P. : Molecular cloning and chromosomal localization of human complement membrane cofactor protein (MCP): evidence for inclusion in the multigene family of complement-regulatory proteins. J. Exp. Med. 168: 181-194, 1988.
[0010001]589.Marie, J. C.; Astier, A. L.; Rivailler, P.; Rabourdin-Combe, C.; Wild, T. F.; Horvat, B.: Linking innate and acquired immunity: divergent role of CD46 cytoplasmic domains in T cell-induced inflammation. Nature Immun. 3: 659-666, 2002.
[0010002]590.Post, T. W.; Liszewski, M. K.; Adams, E. M.; Tedja, I.; Miller, E. A.; Atkinson, J. P.: Membrane cofactor protein of the complement system: alternative splicing of serine/threonine/prolinerich exons and cytoplasmic tails produces multiple isoforms that correlate with protein phenotype. J. Exp. Med. 174: 93-102, 1991.
[0010003]591.Purcell, D. F. J.; Johnstone, R. W.; McKenzie, I. F. C.: Identification of four different CD46 (MCP) molecules with anti-peptide antibodies. Biochem. Biophys. Res. Commun. 180: 1091-1097, 1991.
[0010004]592.Santoro, F.; Kennedy, P. E.; Locatelli, G.; Malnati, M. S.; Berger, E. A.; Lusso, P.: CD46 is a cellular receptor for human herpesvirus 6. Cell 99: 817-827, 1999.
[0010005]593.Tatsuo, H.; Ono, N.; Tanaka, K.; Yanagi, Y.: SLAM (CDw150) is a cellular receptor for measles virus. Nature 406: 893-897, 2000.
[0010006]594.Chan, P.; Simon-Chazottes, D.; Mattei, M. G.; Guenet, J. L.; Salier, J. P.: Comparative mapping of lipocalin genes in human and mouse: the four genes for complement C8 gamma chain, prostaglandin-D-synthase, oncogene-24P3, and progestagen-associated endometrial protein map to HSA9 and MMU2. Genomics 23: 145-150, 1994.
[0010007]595.Dewald, G.; Cichon, S.; Bryant, S. P.; Hemmer, S.; Nothen, M. M.; Spurr, N. K.: The human complement C8G gene, a member of the lipocalin gene family: polymorphisms and mapping to chromosome 9q34.3. Ann. Hum. Genet. 60: 281-291, 1996.
[0010008]596.Haefliger, J.-A.; Jenne, D.; Stanley, K. K.; Tschopp, J.: Structural homology of human complement component C8-gamma and plasma protein HC: identity of the cysteine bond pattern. Biochem. Biophys. Res. Commun. 149: 750-754, 1987.
[0010009]597.Hunt, L. T.; Elzanowski, A.; Barker, W. C.: The homology of complement factor C8 gamma chain and alpha-1-microglobulin. Biochem. Biophys. Res. Commun. 149: 282-288, 1987.
[0010010]598.Kaufman, K. M.; Snider, J. V.; Spurr, N. K.; Schwartz, C. E.; Sodetz, J. M.: Chromosomal assignment of genes encoding the alpha, beta, and gamma subunits of human complement protein C8: identification of a close physical linkage between the alpha and the beta loci. Genomics 5: 475-480, 1989.
[0010011]599.Ng, S. C.; Rao, A. G.; Howard, O. M. Z.; Sodetz, J. M.: The eighth component of human complement: evidence that it is an oligomeric serum protein assembled from products of three different genes. Biochemistry 26: 5229-5233, 1987.
[0010012]600.Alvarez, V.; Coto, E.; Setien, F.; Spath, P. J.; Lopez-Larrea, C.: Genetic detection of the silent allele (*Q0) in hereditary deficiencies of the human complement C6, C7, and C9 components. Am. J. Med. Genet. 55: 408-413, 1995.
[0010013]601.Coto, E.; Martinez-Naves, E.; Dominguez, O.; DiScipio, R. G.; Urra, J. M.; Lopez-Larrea, C.: DNA polymorphism and linkage relationship of the human complement component C6, C7, and C9 genes. Immunogenetics 33: 184-187, 1991.
[0010014]602.Goldfarb, L. G.; Brown, P.; Goldgaber, D.; Asher, D. M.; Rubenstein, R.; Brown, W. T.; Piccardo, P.; Kascsak, R. J.; Boellaard, J. W.; Gajdusek, D. C.: Creutzfeldt-Jakob disease and kuru patients lack a mutation consistently found in the Gerstmann-Straussler-Scheinker syndrome. Exp. Neurol. 108: 247-250, 1990.
[0010015]603.Manuelidis, L.; Sklaviadis, T.; Manuelidis, E. E.: Evidence suggesting that PrP is not the infectious agent in Creutzfeldt-Jakob disease. EMBO J. 6: 341-347, 1987.
[0010016]604.King, I. A.; Arnemann, J.; Spurr, N. K.; Buxton, R. S.: Cloning of the cDNA (DSC1) coding for human type 1 desmocollin and its assignment to chromosome 18. Genomics 18: 185-194, 1993.
[0010017]605.Troyanovsky, S. M.; Eshkind, L. G.; Troyanovsky, R. B.; Leube, R. E.; Franke, W. W.: Contributions of cytoplasmic domains of desmosomal cadherins to desmosome assembly and intermediate filament anchorage. Cell 72: 561-574, 1993.
[0010018]606.Arnemann, J.; Spurr, N. K.; Wheeler, G. N.; Parker, A. E.; Buxton, R. S.: Chromosomal assignment of the human genes coding for the major proteins of the desmosome junction, desmoglein DGI (DSG), desmocollins DGII/III (DSC), desmoplakins DPI/II (DSP), and plakoglobin DPIII (JUP). Genomics 10: 640-645, 1991.
[0010019]607.Buxton, R. S.; Wheeler, G. N.; Pidsley, S. C.; Marsden, M. D.; Adams, M. J.; Jenkins, N. A.; Gilbert, D. J.; Copeland, N. G.: Mouse desmocollin (Dsc3) and desmoglein (Dsg1) genes are closely linked in the proximal region of chromosome 18. Genomics 21: 510-516, 1994.
[0010020]608.Rezaie, T.; Child, A.; Hitchings, R.; Brice, G.; Miller, L.; Coca-Prados, M.; Heon, E.; Krupin, T.; Ritch, R.; Kreutzer, D.; Crick, R. P.; Sarfarazi, M.: Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science 295: 1077-1079, 2002.
[0010021]609.Dale, D. C.; Person, R. E.; Bolyard, A. A.; Aprikyan, A. G.; Bos, C.; Bonilla, M. A.; Boxer, L. A.; Kannourakis, G.; Zeidler, C.; Welte, K.; Benson, K. F.; Horwitz, M.: Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood 96: 2317-2322, 2000.
[0010022]610.Evans, E.; Cooley, J.; Remold-O'Donnell, E.: Characterization and chromosomal localization of ELANH2, the gene encoding human monocyte/neutrophil elastase inhibitor. Genomics 28: 235-240, 1995.
[0010023]611.Schneider, S. S.; Schick, C.; Fish, K. E.; Miller, E.; Pena, J. C.; Treter, S. D.; Hui, S. M.; Silverman, G. A.: A serine proteinase inhibitor locus at 18q21.3 contains a tandem duplication of the human squamous cell carcinoma antigen gene. Proc. Nat. Acad. Sci. 92: 3147-3151, 1995.
[0010024]612.Kramer, A.; Yang, F.-C.; Snodgrass, P.; Li, X.; Scammell, T. E.; Davis, F. C.; Weitz, C. J.: Regulation of daily locomotor activity and sleep by hypothalamic EGF receptor signaling. Science 294: 2511-2515, 2001.
[0010025]613.Lanzetti, L.; Rybin, V.; Malabarba, M. G.; Christoforidis, S.; Scita, G.; Zerial, M.; Di Fiore, P. P.: The Eps8 protein coordinates EGF receptor signalling through Rac and trafficking through Rab5. Nature 408: 374-377, 2000.
[0010026]614.Mannick, J. B.; Hausladen, A.; Liu, L.; Hess, D. T.; Zeng, M.; Miao, Q. X.; Kane, L. S.; Gow, A. J.; Stamler, J. S.: Fas-induced caspase denitrosylation. Science 284: 651-654, 1999.
[0010027]615.Volpert, O. V.; Zaichuk, T.; Zhou, W.; Reiher, F.; Ferguson, T. A.; Stuart, P. M.; Amin, M.; Bouck, N. P.: Inducer-stimulated Fas targets activated endothelium for destruction by anti-angiogenic thrombospondin-1 and pigment epithelium-derived factor. Nature Med. 8: 349-357, 2002.
[0010028]616.Hill, L. L.; Ouhtit, A.; Loughlin, S. M.; Kripke, M. L.; Ananthaswamy, H. N.; Owen-Schaub, L. B.: Fas ligand: a sensor for DNA damage critical in skin cancer etiology. Science 285: 898-900, 1999.
[0010029]617.Xu, S.; Wang, Y.; Roe, B.; Pearson, W. R.: Characterization of the human class mu glutathione S-transferase gene cluster and the GSTM1 deletion. J. Biol. Chem. 273: 3517-3527, 1998.
[0010030]618.Takahashi, Y.; Campbell, E. A.; Hirata, Y.; Takayama, T.; Listowsky, I.: A basis for differentiating among the multiple human mu-glutathione S-transferases and molecular cloning of brain GSTM5. J. Biol. Chem. 268: 8893-8898, 1993.
[0010031]619.Campbell, E.; Takahashi, Y.; Abramovitz, M.; Peretz, M.; Listowsky, I.: A distinct human testis and brain mu-class glutathione S-transferase: molecular cloning and characterization of a form present even in individuals lacking hepatic type mu isoenzymes. J. Biol. Chem. 265: 9188-9193, 1990.
[0010032]620.Elliott, K. J.; Ellis, S. B.; Berckhan, K. J.; Urrutia, A.; Chavez-Noriega, L. E.; Johnson, E. C.; Velicelebi, G.; Harpold, M. M.: Comparative structure of human neuronal alpha(2)-alpha(7) and beta(2)-beta(4) nicotinic acetylcholine receptor subunits and functional expression of the alpha(2), alpha(3), alpha(4), alpha(7), beta(2), and beta(4) subunits. J. Molec. Neurosci. 7: 217-228, 1996.
[0010033]621.Solomon, E.; Hiorns, L. R.; Spurr, N.; Kurkinen, M.; Barlow, D.; Hogan, B. L. M.; Dalgleish, R.: Chromosomal assignments of the genes coding for human types II, III and IV collagen: a dispersed gene family. Proc. Nat. Acad. Sci. 82: 3330-3334, 1985.
[0010034]622.Haddad, P.; Clement, M.-V.; Bernard, O.; Larsen, C.-J.; Degos, L.; Sasportes, M.; Mathieu-Mahul, D.: Structural organization of the CTLA-1 gene encoding human granzyme B. Gene 87: 265-271, 1990.
[0010035]623.Johnson, R.; Jackson, I. J.: Light is a dominant mouse mutation resulting in premature cell death. Nature Genet. 1: 226-229, 1992.
[0010036]624.Yang, J.; Patil, R. V.; Yu, H.; Gordon, M.; Wax, M. B.: T cell subsets and sIL-2R/IL-2 levels in patients with glaucoma. Am. J. Ophthal. 131: 421-426, 2001.
[0010037]625.Bongcam-Rudloff, E.; Nister, M.; Betsholtz, C.; Wang, J.-L.; Stenman, G.; Huebner, K.; Croce, C. M.; Westermark, B.: Human glial fibrillary acidic protein: complementary DNA cloning, chromosome localization, and messenger RNA expression in human glioma cell lines of various phenotypes. Cancer Res. 51: 1553-1560, 1991.
[0010038]626.Brenner, M.; Johnson, A. B.; Boespflug-Tanguy, O.; Rodriguez, D.; Goldman, J. E.; Messing, A.: Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. Nature Genet. 27: 117-120, 2001.
[0010039]627.Brownell, E.; Lee, A. S.; Pekar, S. K.; Pravtcheva, D.; Ruddle, F. H.; Bayney, R. M.: Glial fibrillary acid protein, an astrocytic-specific marker, maps to human chromosome 17. Genomics 10: 1087-1089, 1991.
[0010040]628.Gomi, H.; Yokoyama, T.; Fujimoto, K.; Ikeda, T.; Katoh, A.; Itoh, T.; Itohara, S.: Mice devoid of the glial fibrillary acidic protein develop normally and are susceptible to scrapie prions. Neuron 14: 29-41, 1995.
[0010041]629.Liedtke, W.; Edelmann, W.; Bieri, P. L.; Chiu, F.-C.; Cowan, N. J.; Kucherlapati, R.; Raine, C. S.: GFAP is necessary for the integrity of CNS white matter architecture and long-term maintenance of myelination. Neuron 17: 607-615, 1996.
[0010042]630.Messing, A.; Head, M. W.; Galles, K.; Galbreath, E. J.; Goldman, J. E.; Brenner, M.: Fatal encephalopathy with astrocyte inclusions in GFAP transgenic mice. Am. J. Path. 152: 391-398, 1998.
[0010043]631.Pekny, M.; Leveen, P.; Pekna, M.; Eliasson, C.; Berthold, C.-H.; Westermark, B.; Betsholtz, C.: Mice lacking glial fibrillary acidic protein display astrocytes devoid of intermediate filaments but develop and reproduce normally. EMBO J. 14: 1590-1598, 1995.
[0010044]632.Reeves, S. A.; Helman, L. J.; Allison, A.; Israel, M. A.: Molecular cloning and primary structure of human glial fibrillary acidic protein. Proc. Nat. Acad. Sci. 86: 5178-5182, 1989.
[0010045]633.Schuelke, M.; Smeitink, J.; Mariman, E.; Loeffen, J.; Plecko, B.; Trijbels, F.; Stockler-Ipsiroglu, S.; van den Heuvel, L.: Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. (Letter) Nature Genet. 21: 260-261, 1999.
[0010046]634.Shibuki, K.; Gomi, H.; Chen, L.; Bao, S.; Kim, J. J.; Wakatsuki, H.; Fujisaki, T.; Fujimoto, K.; Katoh, A.; Ikeda, T.; Chen, C.; Thompson, R. F.; Itohara, S.: Deficient cerebellar long-term depression, impaired eyeblink conditioning, and normal motor coordination in GFAP mutant mice. Neuron 16: 587-599, 1996.
[0010047]635.Rodriguez, D.; Gauthier, F.; Bertini, E.; Bugiani, M.; Brenner, M.; N'guyen, S.; Goizet, C.; Gelot, A.; Surtees, R.; Pedespan, J.-M.; Hernandorena, X.; Troncoso, M.; Uziel, G.; Messing, A.; Ponsot, G.; Pham-Dinh, D.; Dautigny, A.; Boespflug-Tanguy, O.: Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation. Am. J. Hum. Genet. 69: 1134-1140, 2001. Note: Erratum: Am. J. Hum. Genet. 69: 1413 only, 2001.
[0010048]636.Shiroma, N.; Kanazawa, N.; Izumi, M.; Sugai, K.; Fukumizu, M.; Sasaki, M.; Hanaoka, S.; Kaga, M.; Tsujino, S.: Diagnosis of Alexander disease in a Japanese patient by molecular genetic analysis. J. Hum. Genet. 46: 579-582, 2001.
[0010049]637.Groot Kormelink, P. J.; Luyten, W. H. M. L.: Cloning and sequence of full-length cDNAs encoding the human neuronal nicotinic acetylcholine receptor (nAChR) subunits beta-3 and beta-4 and expression of seven nAChR subunits in the human neuroblastoma cell line SH-SY5Y and/or IMR-32. FEBS Lett. 400: 309-314, 1997.
[0010050]638.Rempel, N.; Heyers, S.; Engels, H.; Sleegers, E.; Steinlein, O. K.: The structures of the human neuronal nicotinic acetylcholine receptor beta-2- and alpha-3-subunit genes (CHRNB2 and CHRNA3). Hum. Genet. 103: 645-653, 1998.
[0010051]639.Forman, S. A.; Miller, K. W.; Yellen, G.: A discrete site for general anesthetics on a postsynaptic receptor. Molec. Pharm. 48: 574-581, 1995.
[0010052]640.Forman, S. A.; Yellen, G.; Thiele, E. A.: Alternative mechanism for pathogenesis of an inherited epilepsy by a nicotinic AChR mutation. (Letter) Nature Genet. 13: 396-397, 1996.
[0010053]641.Hirose, S.; Iwata, H.; Akiyoshi, H.; Kobayashi, K.; Ito, M.; Wada, K.; Kaneko, S.; Mitsudome, A.: A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy. Neurology 53: 1749-1753, 1999.
[0010054]642.Marubio, L. M.; del Mar Arroyo-Jimenez, M.; Cordero-Erausquin, M.; Lena, C.; Le Novere, N.; de Kerchove d'Exaerde, A.; Huchet, M.; Damaj, M. I.; Changeux, J.-P.: Reduced antinociception in mice lacking neuronal nicotinic receptor subunits. Nature 398: 805-810, 1999.
[0010055]643.Monteggia, L. M.; Gopalakrishnan, M.; Touma, E.; Idler, K. B.; Nash, N.; Arneric, S. P.; Sullivan, J. P.; Giordano, T.: Cloning and transient expression of genes encoding the human alpha-4 and beta-2 neuronal nicotinic acetylcholine receptor (nAChR) subunits. Gene 155: 189-193, 1995.
[0010056]644.Pilz, A. J.; Willer, E.; Povey, S.; Abbott, C. M.: The genes coding for phosphoenolpyruvate carboxykinase-1 (PCK1) and neuronal nicotinic acetylcholine receptor alpha-4 subunit (CHRNA4) map to human chromosome 20, extending the known region of homology with mouse chromosome 2. Ann. Hum. Genet. 56: 289-293, 1992.
[0010057]645.Steinlein, O.; Smigrodzki, R.; Lindstrom, J.; Anand, R.; Kohler, M.; Tocharoentanaphol, C.; Vogel, F.: Refinement of the localization of the gene for neuronal nicotinic acetylcholine receptor alpha-4 subunit (CHRNA4) to human chromosome 20q13.2-q13.3. Genomics 22: 493-495, 1994.
[0010058]646.Steinlein, O.; Weiland, S.; Stoodt, J.; Propping, P.: Exon-intron structure of the human neuronal nicotinic acetylcholine receptor alpha-4 subunit (CHRNA4). Genomics 32: 289-294, 1996.
[0010059]647.Steinlein, O. K.; Magnusson, A.; Stoodt, J.; Bertrand, S.; Weiland, S.; Berkovic, S. F.; Nakken, K. O.; Propping, P.; Bertrand, D.: An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy. Hum. Molec. Genet. 6: 943-947, 1997.
[0010060]648.Steinlein, O. K.; Mulley, J. C.; Propping, P.; Wallace, R. H.; Phillips, H. A.; Sutherland, G. R.; Scheffer, I. E.; Berkovic, S. F.: A missense mutation in the neuronal nicotinic acetylcholine receptor alpha-4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nature Genet. 11: 201-203, 1995.
[0010061]649.Tsonis, P.; Goetinck, P. F.: The Drosophila homoeotic gene spalt is structurally related to collagen alpha-1(IV) chain. (Letter) Collagen Rel. Res. 8: 451-452, 1988.
[0010062]650.Wieslander, J.; Barr, J. F.; Butkowski, R. J.; Edwards, S. J.; Bygren, P.; Heinegard, D.; Hudson, B. G.: Goodpasture antigen of the glomerular basement membrane: localization to noncollagenous regions of type IV collagen. Proc. Nat. Acad. Sci. 81: 3838-3842, 1984.
[0010063]651.Wieslander, J.; Langeveld, J.; Butkowski, R.; Jodlowski, M.; Noelken, M.; Hudson, B. G.: Physical and immunochemical studies of the globular domain of type IV collagen: cryptic properties of the Goodpasture antigen. J. Biol. Chem. 260: 8564-8570, 1985.
[0010064]652.Boye, E.; Mollet, G.; Forestier, L.; Cohen-Solal, L.; Heidet, L.; Cochat, P.; Grunfeld, J.-P.; Palcoux, J.-B.; Gubler, M.-C.; Antignac, C.: Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome. Am. J. Hum. Genet. 63: 1329-1340, 1998.
[0010065]653.Gunwar, S.; Saus, J.; Noelken, M. E.; Hudson, B. G.: Glomerular basement membrane: identification of a fourth chain, alpha-4, of type IV collagen. J. Biol. Chem. 265: 5466-5469, 1990.
[0010066]654.Kamagata, Y.; Mattei, M.-G.; Ninomiya, Y.: Isolation and sequencing of cDNAs and genomic DNAs encoding the alpha 4 chain of basement membrane collagen type IV and assignment of the gene to the distal long arm of human chromosome 2. J. Biol. Chem. 267: 23753-23758, 1992.
[0010067]655.Leinonen, A.; Mariyama, M.; Mochizuki, T.; Tryggvason, K.; Reeders, S. T.: Complete primary structure of the human type IV collagen alpha-4(IV) chain: comparison with structure and expression of the other alpha(IV) chains. J. Biol. Chem. 269: 26172-26177, 1994.
[0010068]656.Lemmink, H. H.; Nillesen, W. N.; Mochizuki, T.; Schroder, C. H.; Brunner, H. G.; van Oost, B. A.; Monnens, L. A. H.; Smeets, H. J. M.: Benign familial hematuria due to mutation of the type IV collagen alpha-4 gene. J. Clin. Invest. 98: 1114-1118, 1996.
[0010069]657.Mariyama, M.; Zheng, K.; Yang-Feng, T. L.; Reeders, S. T.: Colocalization of the genes for the alpha-3(IV) and alpha-4(IV) chains of type IV collagen to chromosome 2 bands q35-q37. Genomics 13: 809-813, 1992.
[0010070]658.Ahmad, N. N.; Ala-Kokko, L.; Knowlton, R. G.; Jimenez, S. A.; Weaver, E. J.; Maguire, J. I.; Tasman, W.; Prockop, D. J.: Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy). Proc. Nat. Acad. Sci. 88: 6624-6627, 1991.
[0010071]659.Ahmad, N. N.; Ala-Kokko, L.; Knowlton, R. G.; Weaver, E. J.; Maguire, J. I.; Tasman, W.; Prockop, D. J.: A stop codon in the gene for type II procollagen (COL2A1) causes one variant of arthro-ophthalmopathy (the Stickler syndrome). (Abstract) Am. J. Hum. Genet. 47 (suppl.): A206 only, 1990.
[0010072]660.Ahmad, N. N.; Dimascio, J.; Knowlton, R. G.; Tasman, W. S.: Stickler syndrome: a mutation in the nonhelical 3-prime end of type II procollagen gene. Arch. Ophthal. 113: 1454-1457, 1995.
[0010073]661.Ahmad, N. N.; McDonald-McGinn, D. M.; Zackai, E. H.; Knowlton, R. G.; LaRossa, D.; DiMascio, J.; Prockop, D. J.: A second mutation in the type II procollagen gene (COL2A1) causing Stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon. Am. J. Hum. Genet. 52: 39-45, 1993.
[0010074]662.Ala-Kokko, L.; Baldwin, C. T.; Moskowitz, R. W.; Prockop, D. J. : Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia. Proc. Nat. Acad. Sci. 87: 6565-6568, 1990.
[0010075]663.Baldwin, C. T.; Reginato, A. M.; Smith, C.; Jimenez, S. A.; Prockop, D. J.: Structure of cDNA clones coding for human type II procollagen: the alpha-1(II) chain is more similar to the alpha-1(I) chain than two other alpha chains of fibrillar collagens. Biochem. J. 262: 521-528, 1989.
[0010076]664.Beighton, P.; Christy, G.; Learmonth, I. D.: Namaqualand hip dysplasia: an autosomal dominant entity. Am. J. Med. Genet. 19: 161-169, 1984.
[0010077]665.Bleasel, J. F.; Holderbaum, D.; Brancolini, V.; Moskowitz, R. W.; Considine, E. L.; Prockop, D. J.; Devoto, M.; Williams, C. J.: Five families with arginine-519-to-cysteine mutation in COL2A1: evidence for three distinct founders. Hum. Mutat. 12: 172-176, 1998.
[0010078]666.Bogaert, R.; Tiller, G. E.; Weis, M. A.; Gruber, H. E.; Rimoin, D. L.; Cohn, D. H.; Eyre, D. R.: An amino acid substitution (gly853-to-glu) in the collagen alpha-1(II) chain produces hypochondrogenesis. J. Biol. Chem. 267: 22522-22526, 1992.
[0010079]667.Brown, D. M.; Nichols, B. E.; Weingeist, T. A.; Sheffield, V. C.; Kimura, A. E.; Stone, E. M.: Procollagen II gene mutation in Stickler syndrome. Arch. Ophthal. 110: 1589-1593, 1992.
[0010080]668.Chan, D.; Cole, W. G.; Chow, C. W.; Mundlos, S.; Bateman, J. F. : A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage. J. Biol. Chem. 270: 1747-1753, 1995.
[0010081]669.Chan, D.; Taylor, T. K. F.; Cole, W. G.: Characterization of an arginine 789 to cysteine substitution in alpha-1(II) collagen chains of a patient with spondyloepiphyseal dysplasia. J. Biol. Chem. 268: 15238-15245, 1993.
[0010082]670.Cheah, K. S. E.; Stoker, N. G.; Griffin, J. R.; Grosveld, F. G.; Solomon, E.: Identification and characterization of the human type II collagen gene (COL2A1). Proc. Nat. Acad. Sci. 82: 2555-2559, 1985.
[0010083]671.Eccles, D. M.; van der Luijt, R.; Breukel, C.; Bullman, H.; Bunyan, D.; Fisher, A.; Barber, J.; du Boulay, C.; Primrose, J.; Burn, J.; Fodde, R.: Hereditary desmoid disease due to a frameshift mutation at codon 1924 of the APC gene. Am. J. Hum. Genet. 59: 1193-1201, 1996.
[0010084]672.Ishida-Yamamoto, A.; McGrath, J. A.; Lam, H.; Iizuka, H.; Friedman, R. A.; Christiano, A. M.: The molecular pathology of progressive symmetric erythrokeratoderma: a frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope. Am. J. Hum. Genet. 61: 581-589, 1997.
[0010085]673.van der Schroeff, J. G.; Nijenhuis, L. E.; Meera Khan, P.; Bernini, L. F.; Schreuder, G. M. T.; van Loghem, E.; Volkers, W. S.; Went, L. N.: Genetic linkage between erythrokeratodermia variabilis and Rh locus. Hum. Genet. 68: 165-168, 1984.
[0010086]674.Allende, M. L.; Amsterdam, A.; Becker, T.; Kawakami, K.; Gaiano, N.; Hopkins, N.: Insertional mutagenesis in zebrafish identifies two novel genes, pescadillo and dead eye, essential for embryonic development. Genes Dev. 10: 3141-3155, 1996.
[0010087]675.Haque, J.; Boger, S.; Li, J.; Duncan, S. A.: The murine Pes1 gene encodes a nuclear protein containing a BRCT domain. Genomics 70: 201-210, 2000.
[0010088]676.Kinoshita, Y.; Jarell, A. D.; Flaman, J. M.; Foltz, G.; Schuster, J.; Sopher, B. L.; Irvin, D. K.; Kanning, K.; Kornblum, H. I.; Nelson, P. S.; Hieter, P.; Morrison, R. S.: Pescadillo, a novel cell cycle regulatory protein abnormally expressed in malignant cells. J. Biol. Chem. 276: 6656-6665, 2001.
[0010089]677.Prekeris, R.; Klumperman, J.; Scheller, R. H.: A Rab11/Rip11 protein complex regulates apical membrane trafficking via recycling endosomes. Molec. Cell 6: 1437-1448, 2000.
[0010090]678.Van Hauwe, P.; Everett, L. A.; Coucke, P.; Scott, D. A.; Kraft, M. L.; Ris-Stalpers, C.; Bolder, C.; Otten, B.; de Vijlder, J. J. M.; Dietrich, N. L.; Ramesh, A.; Srisailapathy, S. C. R.; Parving, A.; Cremers, C. W. R. J.; Willems, P. J.; Smith, R. J. H.; Green, E. D.; Van Camp, G.: Two frequent missense mutations in Pendred syndrome. Hum. Molec. Genet. 7: 1099-1104, 1998.
[0010091]679.Cenciarelli, C.; Chiaur, D. S.; Guardavaccaro, D.; Parks, W.; Vidal, M.; Pagano, M.: Identification of a family of human F-box proteins. Curr. Biol. 9: 1177-1179, 1999.
[0010092]680.Winston, J. T.; Koepp, D. M.; Zhu, C.; Elledge, S. J.; Harper, J. W.: A family of mammalian F-box proteins. Curr. Biol. 9: 1180-1182, 1999.
[0010093]681.Gerlach, V. L.; Aravind, L.; Gotway, G.; Schultz, R. A.; Koonin, E. V.; Friedberg, E. C.: Human and mouse homologs of Escherichia coli DinB (DNA polymerase IV), members of the UmuC/DinB superfamily. Proc. Nat. Acad. Sci. 96: 11922-11927, 1999.
[0010094]682.Johnson, R. E.; Prakash, S.; Prakash, L.: The human DINB1 gene encodes the DNA polymerase Pol-theta. Proc. Nat. Acad. Sci. 97: 3838-3843, 2000.
[0010095]683.Ogi, T.; Kato, T., Jr.; Kato, T.; Ohmori, H.: Mutation enhancement by DINB1, a mammalian homologue of the Escherichia coli mutagenesis protein dinB. Genes Cells 4: 607-618, 1999.
[0010096]684.Ohashi, E.; Ogi, T.; Kusumoto, R.; Iwai, S.; Masutani, C.; Hanaoka, F.; Ohmori, H.: Error-prone bypass of certain DNA lesions by the human DNA polymerase kappa. Genes Dev. 14: 1589-1594, 2000.
[0010097]685.Koike, J.; Sagara, N.; Kirikoshi, H.; Takagi, A.; Miwa, T.; Hirai, M.; Katoh, M.: Molecular cloning and genomic structure of the beta-TRCP2 gene on chromosome 5q35.1. Biochem. Biophys. Res. Commun. 269: 103-109, 2000.
[0010098]686.Chiaur, D. S.; Murthy, S.; Cenciarelli, C.; Parks, W.; Loda, M.; Inghirami, G.; Demetrick, D.; Pagano, M.: Five human genes encoding F-box proteins: chromosome mapping and analysis in human tumors. Cytogenet. Cell Genet. 88: 255-258, 2000.
[0010099]687.Bauer, H.; Mayer, H.; Marchler-Bauer, A.; Salzer, U.; Prohaska, R.: Characterization of p40/GPR69A as a peripheral membrane protein related to the lantibiotic synthetase component C. Biochem. Biophys. Res. Commun. 275: 69-74, 2000.
[0010100]688.Mayer, H.; Bauer, H.; Prohaska, R.: Organization and chromosomal localization of the human and mouse genes coding for LanC-like protein 1 (LANCL1). Cytogenet. Cell Genet. 93: 100-104, 2001.
[0010101]689.Mayer, H.; Salzer, U.; Breuss, J.; Ziegler, S.; Marchler-Bauer, A.; Prohaska, R.: Isolation, molecular characterization, and tissue-specific expression of a novel putative G protein-coupled receptor. Biochim. Biophys. Acta 1395: 301-308, 1998.
[0010102]690.Baylin, S. B.; Herman, J. G.: DNA hypermethylation in tumorigenesis: epigenetics joins genetics. Trends Genet. 16: 168-174, 2000.
[0010103]691.Cameron, E. E.; Bachman, K. E.; Myohanen, S.; Herman, J. G.; Baylin, S. B.: Synergy of demethylation and histone deacetylase inhibition in the re-expression of genes silenced in cancer. Nature Genet. 21: 103-107, 1999.
[0010104]692.Finch, P. W.; He, X.; Kelley, M. J.; Uren, A.; Schaudies, R. P.; Popescu, N. C.; Rudikoff, S.; Aaronson, S. A.; Varmus, H. E.; Rubin, J. S.: Purification and molecular cloning of a secreted, frizzled-related antagonist of Wnt action. Proc. Nat. Acad. Sci. 94: 6770-6775, 1997.
[0010105]693.Fukuhara, K.; Kariya, M.; Kita, M.; Shime, H.; Kanamori, T.; Kosaka, C.; Orii, A.; Fujita, J.; Fujii, S.: Secreted frizzled related protein 1 is overexpressed in uterine leiomyomas, associated with a high estrogenic environment and unrelated to proliferative activity. J. Clin. Endocr. Metab. 87: 1729-1736, 2002.
[0010106]694.Melkonyan, H. S.; Chang, W. C.; Shapiro, J. P.; Mahadevappa, M.; Fitzpatrick, P. A.; Kiefer, M. C.; Tomei, L. D.; Umansky, S. R.: SARPs: a family of secreted apoptosis-related proteins. Proc. Nat. Acad. Sci. 94: 13636-13641, 1997.
[0010107]695.Suzuki, H.; Gabrielson, E.; Chen, W.; Anbazhagan, R.; van Engeland, M.; Weijenberg, M. P.; Herman, J. G.; Baylin, S. B.: A genomic screen for genes upregulated by demethylation and histone deacetylase inhibition in human colorectal cancer. Nature Genet. 31: 141-149, 2002.
[0010108]696.Chang, J. T.; Esumi, N.; Moore, K.; Li, Y.; Zhang, S.; Chew, C.; Goodman, B.; Rattner, A.; Moody, S.; Stetten, G.; Campochiaro, P. A.; Zack, D. J.: Cloning and characterization of a secreted frizzled-related protein that is expressed by the retinal pigment epithelium. Hum. Molec. Genet. 8: 575-583, 1999.
[0010109]697.Rattner, A.; Hsieh, J.-C.; Smallwood, P. M.; Gilbert, D. J.; Copeland, N. G.; Jenkins, N. A.; Nathans, J.: A family of secreted proteins contains homology to the cysteine-rich ligand-binding domain of frizzled receptors. Proc. Nat. Acad. Sci. 94: 2859-2863, 1997.
[0010110]698.Gallagher, M. J.; Burgess, L. H.; Brunden, K. R.: Characterization of multiple forms of the human glycine transporter type-2. Molec. Brain Res. 70: 101-115, 1999.
[0010111]699.Liu, Q. R.; Lopez-Corcuera, B.; Mandiyan, S.; Nelson, H.; Nelson, N.: Cloning and expression of a spinal cord- and brain-specific glycine transporter with novel structural features. J. Biol. Chem. 268: 22802-22808, 1993.
[0010112]700.Olaisen, B.; Gedde-Dahl, T., Jr.: GPT-epidermolysis bullosa simplex (EBS Ogna) linkage in man. Hum. Hered. 23: 189-196, 1973.
[0010113]701.Olaisen, B.; Gedde-Dahl, T., Jr.: GPT-EBS(1) linkage group: general linkage relations. Hum. Hered. 24: 178-185, 1974.
[0010114]702.Bach, I.; Galcheva-Gargova, Z.; Mattei, M.-G.; Simon-Chazottes, D.; Guenet, J.-L.; Cereghini, S.; Yaniv, M.: Cloning of human hepatic nuclear factor 1 (HNF1) and chromosomal localization of its gene in man and mouse. Genomics 8: 155-164, 1990.
[0010115]703.Byrne, M. M.; Sturis, J.; Menzel, S.; Yamagata, K.; Fajans, S. S.; Dronsfield, M. J.; Bain, S. C.; Hattersley, A. T.; Velho, G.; Froguel, P.; Bell, G. I.; Polonsky, K. S.: Altered insulin secretory responses to glucose in diabetic and nondiabetic subjects with mutations in the diabetes susceptibility gene MODY3 on chromosome 12. Diabetes 45: 1503-1510, 1996.
[0010116]704.Chiu, K. C.; Chuang, L.-M.; Ryu, J. M.; Tsai, G. P.; Saad, M. F. : The I27L amino acid polymorphism of hepatic nuclear factor-1-alpha is associated with insulin resistance. J. Clin. Endocr. Metab. 85: 2178-2183, 2000.
[0010117]705.Collet, C.; et al.; et al.: Prevalence of the missense mutation Gly574Ser in the hepatocyte nuclear factor-1-alpha in Africans with diabetes. Diabetes Metab. 28: 39-44, 2002.
[0010118]706.Courtois, G.; Morgan, J. G.; Campbell, L. A.; Fourel, G.; Crabtree, G. R.: Interaction of a liver-specific nuclear factor with the fibrinogen and alpha-1-antitrypsin promoters. Science 238: 688-692, 1987.
[0010119]707.De Simone, V.; De Magistris, L.; Lazzaro, D.; Gerstner, J.; Monaci, P.; Nicosia, A.; Cortese, R.: LFB3, a heterodimer-forming homeoprotein of the LFB1 family, is expressed in specialized epithelia. EMBO J. 10: 1435-1443, 1991.
[0010120]708.Ellard, S.: Hepatocyte nuclear factor 1 alpha (HNF-1-alpha) mutations in maturity-onset diabetes of the young. Hum. Mutat. 16: 377-385, 2000.
[0010121]709.Frayling, T. M.; Bulman, M. P.; Appleton, M.; Hattersley, A. T.; Ellard, S.: A rapid screening method for hepatocyte nuclear factor 1 alpha frameshift mutations; prevalence in maturity-onset diabetes of the young and late-onset non-insulin dependent diabetes. Hum. Genet. 101: 351-354, 1997.
[0010122]710.Frayling, T. M.; Bulman, M. P.; Ellard, S.; Appleton, M.; Dronsfield, M. J.; Mackie, A. D. R.; Baird, J. D.; Kaisaki, P. J.; Yamagata, K.; Bell, G. I.; Bain, S. C.; Hattersley, A. T.: Mutations in the hepatocyte nuclear factor-1-alpha gene are a common cause of maturity-onset diabetes of the young in the U.K. Diabetes 46: 720-725, 1997.
[0010123]711.Godart, F.; Bellanne-Chantelot, C.; Clauin, S.; Gragnoli, C.; Abderrahmani, A.; Blanche, H.; Boutin, P.; Chevre, J. C.; Froguel, P.; Bailleul, B.: Identification of seven novel nucleotide variants in the hepatocyte nuclear factor-1-alpha (TCF1) promoter region in MODY patients. Hum. Mutat. 15: 173-180, 2000.
[0010124]712.Gonzalez, F. J.; Liu, S.-Y.; Kozak, C. A.; Nebert, D. W.: Decreased Hnf-1 gene expression in mice homozygous for a 1.2-centimorgan deletion on chromosome 7. DNA Cell Biol. 9: 771-776, 1990.
[0010125]713.Gragnoli, C.; Lindner, T.; Cockburn, B. N.; Kaisaki, P. J.; Gragnoli, F.; Marozzi, G.; Bell, G. I.: Maturity-onset diabetes of the young due to a mutation in the hepatocyte nuclear factor-4-alpha binding site in the promoter of the hepatocyte nuclear factor-1-alpha gene. Diabetes 46: 1648-1651, 1997.
[0010126]714.Hansen, T.; Eiberg, H.; Rouard, M.; Vaxillaire, M.; Moller, A. M.; Rasmussen, S. K.; Fridberg, M.; Urhammer, S. A.; Holst, J. J.; Almind, K.; Echwald, S. M.; Hansen, L.; Bell, G. I.; Pedersen, O. : Novel MODY3 mutations in the hepatocyte nuclear factor-1-alpha gene: evidence for a hyperexcitability of pancreatic beta-cells to intravenous secretagogues in a glucose-tolerant carrier of a P447L mutation. Diabetes 46: 726-730, 1997.
[0010127]715.Hegele, R. A.; Cao, H.; Harris, S. B.; Hanley, A. J. G.; Zinman, B.: The hepatic nuclear factor-1-alpha G319S variant is associated with early-onset type 2 diabetes in Canadian Oji-Cree. J. Clin. Endocr. Metab. 84: 1077-1082, 1999.
[0010128]716.Hegele, R. A.; Cao, H.; Harris, S. B.; Zinman, B.; Hanley, A. J. G.; Anderson, C. M.: Peroxisome proliferator-activated receptor-gamma-2 P12A and type 2 diabetes in Canadian Oji-Cree. J. Clin. Endocr. Metab. 85: 2014-2019, 2000.
[0010129]717.Hiraiwa, H.; Pan, C.-J.; Lin, B.; Akiyama, T. E.; Gonzalez, F. J.; Chou, J. Y.: A molecular link between the common phenotypes of type 1 glycogen storage disease and HNF1-alpha-null mice. J. Biol. Chem. 276: 7963-7967, 2001.
[0010130]718.Hua, Q.-X.; Zhao, M.; Narayana, N.; Nakagawa, S. H.; Jia, W.; Weiss, M. A.: Diabetesassociated mutations in a beta-cell transcription factor destabilize an antiparallel 'mini-zipper' in a dimerization interface. Proc. Nat. Acad. Sci. 97: 1999-2004, 2000.
[0010131]719.Kaisaki, P. J.; Menzel, S.; Lindner, T.; Oda, N.; Rjasanowski, I.; Sahm, J.; Meincke, G.; Schulze, J.; Schmechel, H.; Petzold, C.; Ledermann, H. M.; Sachse, G.; Boriraj, V. V.; Menzel, R.; Kerner, W.; Turner, R. C.; Yamagata, K.; Bell, G. I.: Mutations in the hepatocyte nuclear factor-1-alpha gene in MODY and early-onset NIDDM: evidence for a mutational hotspot in exon 4. Diabetes 46: 528-535, 1997.
[0010132]720.Kuo, C. J.; Conley, P. B.; Hsieh, C.-L.; Francke, U.; Crabtree, G. R.: Molecular cloning, functional expression, and chromosomal localization of mouse hepatocyte nuclear factor 1. Proc. Nat. Acad. Sci. 87: 9838-9842, 1990.
[0010133]721.Mendel, D. B.; Hansen, L. P.; Graves, M. K.; Conley, P. B.; Crabtree, G. R.: HNF-1-alpha and HNF-1-beta (vHNF-1) share dimerization and homeo domains, but not activation domains, and form heterodimers in vitro. Genes Dev. 5: 1042-1056, 1991.
[0010134]722.Miedzybrodzka, Z.; Hattersley, A. T.; Ellard, S.; Pearson, D.; de Silva, D.; Harvey, R.; Haites, N.: Non-penetrance in a MODY 3 family with a mutation in the hepatic nuclear factor 1a gene: implications for predictive testing. Europ. J. Hum. Genet. 7: 729-732, 1999.
[0010135]723.Pontoglio, M.; Barra, J.; Hadchouel, M.; Doyen, A.; Kress, C.; Bach, J. P.; Babinet, C.; Yaniv, M.: Hepatocyte nuclear factor 1 inactivation results in hepatic dysfunction, phenylketonuria, and renal Fanconi syndrome. Cell 84: 575-585, 1996.
[0010136]724.Braud, V. M.; Allan, D. S. J.; O'Callaghan, C. A.; Soderstrom, K.; D'Andrea, A.; Ogg, G. S.; Lazetic, S.; Young, N. T.; Bell, J. I.; Phillips, J. H.; Lanier, L. L.; McMichael, A. J.: HLA-E binds to natural killer cell receptors CD94/NKG2A, B and C. Nature 391: 795-799, 1998.
[0010137]725.Carroll, M. C.; Katzman, P.; Alicot, E. M.; Koller, B. H.; Geraghty, D. E.; Orr, H. T.; Strominger, J. L.; Spies, T.: Linkage map of the human major histocompatibility complex including the tumor necrosis factor genes. Proc. Nat. Acad. Sci. 84: 8535-8539, 1987.
[0010138]726.Botstein, D.; White, R. L.; Skolnick, M.; Davis, R. W.: Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am. J. Hum. Genet. 32: 314-331, 1980.
[0010139]727.Vernet, C.; Ribouchon, M.-T.; Chimini, G.; Pontarotti, P.: Structure and evolution of a member of a new subfamily of GTP-binding proteins mapping to the human MHC class I region. Mammalian Genome 5: 100-105, 1994.
[0010140]728.Mullis, P. E.; Patel, M. S.; Brickell, P. M.; Hindmarsh, P. C.; Brook, C. G. D.: Growth characteristics and response to growth hormone therapy in patients with hypochondroplasia: genetic linkage of the insulin-like growth factor I gene at chromosome 12q23 to the disease in a subgroup of these patients. Clin. Endocr. 34: 265-274, 1991.
[0010141]729.Waldstreicher, J.; Seminara, S. B.; Jameson, J. L.; Geyer, A.; Nachtigall, L. B.; Boepple, P. A.; Holmes, L. B.; Crowley, W.F., Jr. : The genetic and clinical heterogeneity of gonadotropinreleasing hormone deficiency in the human. J. Clin. Endocr. Metab. 81: 4388-4395, 1996.
[0010142]730.Baron, J.; Winer, K. K.; Yanovski, J. A.; Cunningham, A. W.; Laue, L.; Zimmerman, D.; Cutler, G. B., Jr.: Mutations in the Ca(2+)-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism. Hum. Molec. Genet. 5: 601-606, 1996.
[0010143]731.Miki, T.; Kawamata, N.; Arai, A.; Ohashi, K.; Nakamura, Y.; Kato, A.; Hirosawa, S.; Aoki, N.: Molecular cloning of the breakpoint for 3q27 translocation in B-cell lymphomas and leukemias. Blood 83: 217-222, 1994.
[0010144]732.Ferrari, A. C.; Seuanez, H. N.; Hanash, S. M.; Atweh, G. F.: A gene that encodes for a leukemia-associated phosphoprotein (p18) maps to chromosome bands 1p35-36.1. Genes Chromosomes Cancer 2: 125-129, 1990.
[0010145]733.Hanash, S. M.; Strahler, J. R.; Kuick, R.; Chu, E. H. Y.; Nichols, D.: Identification of a polypeptide associated with the malignant phenotype in acute leukemia. J. Biol. Chem. 263: 12813-12815, 1988.
[0010146]734.Kumar, R.; Haugen, J. D.: Human and rat osteoblast-like cells express stathmin, a growth-regulatory protein. Biochem. Biophys. Res. Commun. 201: 861-865, 1994.
[0010147]735.Maucuer, A.; Camonis, J. H.; Sobel, A.: Stathmin interaction with a putative kinase and coiled-coil-forming protein domains. Proc. Nat. Acad. Sci. 92: 3100-3104, 1995.
[0010148]736.Mock, B. A.; Krall, M. M.; Padlan, C.; Dosik, J. K.; Schubart, U. K.: The gene for Lap18, leukemia-associated phosphoprotein p18 (metablastin), maps to distal mouse chromosome 4. Mammalian Genome 4: 461-462, 1993.
[0010149]737.Okazaki, T.; Yoshida, B. N.; Avraham, K. B.; Wang, H.; Wuenschell, C. W.; Jenkins, N. A.; Copeland, N. G.; Anderson, D. J.; Mori, N. : Molecular diversity of the SCG10/stathmin gene family in the mouse. Genomics 18: 360-373, 1993. Note: Erratum: Genomics 21: 298 only, 1994.
[0010150]738.Sobel, A.: Stathmin: a relay phosphoprotein for multiple signal transduction? Trends Biochem. Sci. 16: 301-305, 1991.
[0010151]739.Sobel, A.; Boutterin, M.-C.; Beretta, L.; Chneiweiss, H.; Doye, V.; Peyro-Saint-Paul, H.: Intracellular substrates for extracellular signaling: characterization of a ubiquitous, neuron-enriched phosphoprotein (stathmin). J. Biol. Chem. 264: 3765-3772, 1989.
[0010152]740.Zhu, X. X.; Kozarsky, K.; Strahler, J. R.; Eckerskorn, C.; Lottspeich, F.; Melhem, R.; Lowe, J.; Fox, D. A.; Hanash, S. M.; Atweh, G. F. : Molecular cloning of a novel human leukemiaassociated gene: evidence of conservation in animal species. J. Biol. Chem. 264: 14556-14560, 1989.
[0010153]741.Gearing, D. P.; Druck, T.; Huebner, K.; Overhauser, J.; Gilbert, D. J.; Copeland, N. G.; Jenkins, N. A.: The leukemia inhibitory factor receptor (LIFR) gene is located within a cluster of cytokine receptor loci on mouse chromosome 15 and human chromosome 5p12-p13. Genomics 18: 148-150, 1993.
[0010154]742.Delespesse, G.; Sarfati, M.; Peleman, R.: Influence of recombinant IL-4, IFN-alpha, and IFN-gamma on the production of human IgE-binding factor (soluble CD23). J. Immun. 142: 134-138, 1989.
[0010155]743.Ludin, C.; Hofstetter, H.; Sarfati, M.; Levy, C. A.; Suter, U.; Alaimo, D.; Kilchherr, E.; Frost, H.; Delespesse, G.: Cloning and expression of the cDNA coding for a human lymphocyte IgE receptor. EMBO J. 6: 109-114, 1987.
[0010156]744.Wendel-Hansen, V.; Riviere, M.; Uno, M.; Jansson, I.; Szpirer, J.; Islam, M. Q.; Levan, G.; Klein, G.; Yodoi, J.; Rosen, A.; Szpirer, C.: The gene encoding CD23 leukocyte antigen (FCE2) is located on human chromosome 19. Somat. Cell Molec. Genet. 16: 283-286, 1990.
[0010157]745.Li, S.-H.; Lam, S.; Cheng, A. L.; Li, X.-J.: Intranuclear huntingtin increases the expression of caspase-1 and induces apoptosis. Hum. Molec. Genet. 9: 2859-2867, 2000.
[0010158]746.Mangiarini, L.; Sathasivam, K.; Seller, M.; Cozens, B.; Harper, A.; Hetherington, C.; Lawton, M.; Trottier, Y.; Lehrach, H.; Davies, S. W.; Bates, G. P.: Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice. Cell 87: 493-506, 1996.
[0010159]747.Ona, V. O.; Li, M.; Vonsattel, J. P. G.; Andrews, L. J.; Khan, S. Q.; Chung, W. M.; Frey, A. S.; Menon, A. S.; Li, X.-J.; Stieg, P. E.; Yuan, J.; Penney, J. B.; Young, A. B.; Cha, J.-H. J.; Friedlander, R. M.: Inhibition of caspase-1 slows disease progression in a mouse model of Huntington's disease. Nature 399: 263-267, 1999.
[0010160]748.Arend, W. P.: Interleukin 1 receptor antagonist: a new member of the interleukin 1 family. J. Clin. Invest. 88: 1445-1451, 1991.
[0010161]749.Blakemore, A. I. F.; Cox, A.; Gonzalez, A.-M.; Maskill, J. K.; Hughes, M. E.; Wilson, R. M.; Ward, J. D.; Duff, G. W.: Interleukin-1 receptor antagonist allele (IL1RN*2) associated with nephropathy in diabetes mellitus. Hum. Genet. 97: 369-374, 1996.
[0010162]750.Blakemore, A. I. F.; Tarlow, J. K.; Cork, M. J.; Gordon, C.; Emery, P.; Duff, G. W.: Interleukin-1 receptor antagonist gene polymorphism as a disease severity factor in systemic lupus erythematosus. Arthritis Rheum. 37: 1380-1385, 1994.
[0010163]751.Carter, D. B.; Deibel, M. R., Jr.; Dunn, C. J.; Tomich, C.-S. C.; Laborde, A. L.; Slightom, J. L.; Berger, A. E.; Bienkowski, M. J.; Sun, F. F.; McEwan, R. N.; Harris, P. K. W.; Yem, A. W.; Waszak, G. A.; Chosay, J. G.; Sieu, L. C.; Hardee, M. M.; Zurcher-Neely, H. A.; Reardon, I. M.; Heinrikson, R. L.; Truesdell, S. E.; Shelly, J. A.; Eessalu, T. E.; Taylor, B. M.; Tracey, D. E.: Purification, cloning, expression and biological characterization of an interleukin-1 receptor antagonist protein. Nature 344: 633-638, 1990.
[0010164]752.Dinarello, C. A.; Wolff, S. M.: The role of interleukin-1 in disease. New Eng. J. Med. 328: 106-113, 1993.
[0010165]753.El-Omar, E. M.; Carrington, M.; Chow, W.-H.; McColl, K. E. L.; Bream, J. H.; Young, H. A.; Herrera, J.; Lissowska, J.; Yuan, C.-C.; Rothman, N.; Lanyon, G.; Martin, M.; Fraumeni, J. F., Jr.; Rabkin, C. S.: Interleukin-1 polymorphisms associated with increased risk of gastric cancer. Nature 404: 398-402, 2000.
[0010166]754.Gabay, C.; Smith, M. F., Jr.; Eidlen, D.; Arend, W. P.: Interleukin 1 receptor antagonist (IL-1Ra) is an acute-phase protein. J. Clin. Invest. 99: 2930-2940, 1997.
[0010167]755.Langdahl, B. L.; Lokke, E.; Carstens, M.; Stenkjaer, L. L.; Eriksen, E. F.: Osteoporotic fractures are associated with an 86-base pair repeat polymorphism in the interleukin-1-receptor antagonist gene but not with polymorphisms in the interleukin-1 beta gene. J. Bone Miner. Res. 15: 402-414, 2000.
[0010168]756.Craig, S. P.; Lamouroux, A.; Mallet, J.; Huttner, W.; Craig, I. W.: Localisation of the gene for chromogranin B to chromosome 20.. (Abstract) 7th Int. Cong. Hum. Genet., Berlin 1986.
[0010169]757.Craig, S. P.; Lamouroux, A.; Mallet, J.; Huttner, W.; Craig, I. W.: Localisation of the human gene for secretogranin 1 (chromogranin B) to chromosome 20. (Abstract) Cytogenet. Cell Genet. 46: 600 only, 1987.
[0010170]758.Jenkins, N. A.; Mattei, M.-G.; Gilbert, D. J.; Linard, C. G.; Mbikay, M.; Chretien, M.; Copeland, N. G.: Assignment of secretogranin I locus to mouse chromosome 2 by in situ hybridization and interspecific backcross analysis. Genomics 11: 479-480, 1991.
[0010171]759.Kluwe, L.; Mautner, V.; Parry, D. M.; Jacoby, L. B.; Baser, M.; Gusella, J.; Davis, K.; Stavrou, D.; MacCollin, M.: The parental origin of new mutations in neurofibromatosis 2. Neurogenetics 3: 17-24, 2000.
[0010172]760.Kluwe, L.; Mautner, V.-F.: Mosaicism in sporadic neurofibromatosis 2 patients. Hum. Molec. Genet. 7: 2051-2055, 1998.
[0010173]761.Kluwe, L.; Mautner, V.-F.: A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2. Hum. Genet. 97: 224-227, 1996.
[0010174]762.Knudson, A.: Asbestos and mesothelioma: genetic lessons from a tragedy. Proc. Nat. Acad. Sci. 92: 10819-10820, 1995.
[0010175]763.Kondziolka, D.; Lunsford, L. D.; McLaughlin, M. R.; Flickinger, J. C.: Long-term outcomes after radiosurgery for acoustic neuromas. New Eng. J. Med. 339: 1426-1433, 1998.
[0010176]764.Landau, K.; Dossetor, F. M.; Hoyt, W. F.; Muci-Mendoza, R.: Retinal hamartoma in neurofibromatosis 2. Arch. Ophthal. 108: 328-329, 1990.
[0010177]765.Lee, D. K.; Abbott, M. L.: Familial central nervous system neoplasia: case report of a family with von Recklinghausen's neurofibromatosis. Arch. Neurol. 20: 154-160, 1969.
[0010178]766.Legoix, P.; Legrand, M.-F.; Ollagnon, E.; Lenoir, G.; Thomas, G.; Zucman-Rossi, J.: Characterisation of 16 polymorphic markers in the NF2 gene: application to hemizygosity detection. Hum. Mutat. 13: 290-293, 1999.
[0010179]767.MacCollin, M.; Ramesh, V.; Jacoby, L. B.; Louis, D. N.; Rubio, M.-P.; Pulaski, K.; Trofatter, J. A.; Short, M. P.; Bove, C.; Eldridge, R.; Parry, D. M.; Gusella, J. F.: Mutational analysis of patients with neurofibromatosis 2. Am. J. Hum. Genet. 55: 314-320, 1994.
[0010180]768.Martuza, R. L.; Eldridge, R.: Neurofibromatosis 2 (bilateral acoustic neurofibromatosis). New Eng. J. Med. 318: 684-688, 1988.
[0010181]769.Martuza, R. L.; Ojemann, R. G.: Bilateral acoustic neuromas: clinical aspects, pathogenesis and treatment. Neurosurgery 10: 1-12, 1982.
[0010182]770.Mayfrank, L.; Wullich, B.; Wolff, G.; Finke, J.; Gouzoulis, E.; Gilsbach, J. M.: Neurofibromatosis 2: a clinically and genetically heterogeneous disease? Report on 10 sporadic cases. Clin. Genet. 38: 362-370, 1990.
[0010183]771.Moyes, P. D.: Familial bilateral acoustic neuroma affecting 14 members from four generations. J. Neurosurg. 29: 78-82, 1968.
[0010184]772.Mrazek, J.; Fiser, Z.; Mrazkova, D.: Diagnosis, size, and operation results in 41 acoustic neurinomas. Neoplasma 35: 467-474, 1988.
[0010185]773.Merel, P.; Hoang-Xuan, K.; Sanson, M.; Moreau-Aubry, A.; Bijlsma, E. K.; Lazaro, C.; Moisan, J. P.; Resche, F.; Nishisho, I.; Estivill, X.; Delattre, J. Y.; Poisson, M.; Theillet, C.; Hulsebos, T.; Delattre, O.; Thomas, G.: Predominant occurrence of somatic mutations of the NF2 gene in meningiomas and schwannomas. Genes Chromosomes Cancer 13: 211-216, 1995.
[0010186]774.Myers, R. M.; Fischer, S. G.; Lerman, L. S.; Maniatis, T.: Nearly all single base substitutions in DNA fragments joined to a GC-clamp can be detected by denaturing gradient gel electrophoresis. Nucleic Acids Res. 13: 3131-3145, 1985.
[0010187]775.Nager, G. T.: Association of bilateral VIIIth nerve tumors with meningioma in von Recklinghausen's disease. Laryngoscope 74: 1220-1261, 1964.
[0010188]776.Nager, G. T.: Acoustic neuromas: pathology and differential diagnosis. Arch. Otolaryng. 89: 252-279, 1969.
[0010189]777.Narod, S. A.; Parry, D. M.; Parboosingh, J.; Lenoir, G. M.; Ruttledge, M.; Fischer, G.; Eldridge, R.; Martuza, R. L.; Frontali, M.; Haines, J.; Gusella, J. F.; Rouleau, G. A.: Neurofibromatosis type 2 appears to be a genetically homogeneous disease. Am. J. Hum. Genet. 51: 486-496, 1992.
[0010190]778.NIH Consensus Development Conference: Neurofibromatosis: conference statement. Arch. Neurol. 45: 475-578, 1988.
[0010191]779.Niimura, M.: Neurofibromatosis (3). Rinsho Derma (Tokyo) 15: 653-663, 1973.
[0010192]780.Papi, L.; De Vitis, L. R.; Vitelli, F.; Ammannati, F.; Mennonna, P.; Montali, E.; Bigozzi, U.: Somatic mutations in the neurofibromatosis type 2 gene in sporadic meningiomas. Hum. Genet. 95: 347-351, 1995.
[0010193]781.Parry, D. M.; Kaiser-Kupfer, M. I.; Eldridge, R.: Neurofibromatosis 2 (NF2): lens findings in 40 patients in 5 high risk groups. (Abstract) Am. J. Hum. Genet. 49 (suppl.): 155, 1991.
[0010194]782.Parry, D. M.; MacCollin, M. M.; Kaiser-Kupfer, M. I.; Pulaski, K.; Nicholson, H. S.; Bolesta, M.; Eldridge, R.; Gusella, J. F.: Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities. Am. J. Hum. Genet. 59: 529-539, 1996.
[0010195]783.Pastores, G. M.; Michels, V. V.; Jack, C. R., Jr.: Early childhood diagnosis of acoustic neuromas in presymptomatic individuals at risk for neurofibromatosis 2. Am. J. Med. Genet. 41: 325-329, 1991.
[0010196]784.Pearson-Webb, M. A.; Kaiser-Kupfer, M. I.; Eldridge, R.: Eye findings in bilateral acoustic (central) neurofibromatosis: association with presenile lens opacities and cataracts but absence of Lisch nodules. (Letter) New Eng. J. Med. 315: 1553-1554, 1986.
[0010197]785.Perez Demoura, L. F.; Hayden, R. C., Jr.; Conner, G. H.: Bilateral acoustic neurinoma and neurofibromatosis. Arch. Otolaryng. 90: 28-34, 1969.
[0010198]786.Pitts, L. H.; Jackler, R. K.: Treatment of acoustic neuromas. (Editorial) New Eng. J. Med. 339: 1471-1473, 1998.
[0010199]787.Ragge, N. K.; Baser, M. E.; Klein, J.; Nechiporuk, A.; Sainz, J.; Pulst, S.-M.; Riccardi, V. M.: Ocular abnormalities in neurofibromatosis 2. Am. J. Ophthal. 120: 634-641, 1995.
[0010200]788.Rouleau, G. A.; Seizinger, B. R.; Wertelecki, W.; Haines, J. L.; Superneau, D. W.; Martuza, R. L.; Gusella, J. F.: Flanking markers bracket the neurofibromatosis type 2 (NF2) gene on chromosome 22. Am. J. Hum. Genet. 46: 323-328, 1990.
[0010201]789.Rouleau, G. A.; Wertelecki, W.; Haines, J. L.; Hobbs, W. J.; Trofatter, J. A.; Seizinger, B.; Martuza, R. L.; Superneau, D. W.; Conneally, P. M.; Gusella, J. F.: Genetic linkage of bilateral acoustic neurofibromatosis to DNA markers on chromosome 22. (Abstract) Cytogenet. Cell Genet. 46: 684-685, 1987.
[0010202]790.Rouleau, G. A.; Wertelecki, W.; Haines, J. L.; Hobbs, W. J.; Trofatter, J. A.; Seizinger, B. R.; Martuza, R. L.; Superneau, D. W.; Conneally, P. M.; Gusella, J. F.: Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22. Nature 329: 246-248, 1987.
[0010203]791.Goate, A.; Chartier-Harlin, M.-C.; Mullan, M.; Brown, J.; Crawford, F.; Fidani, L.; Giuffra, L.; Haynes, A.; Irving, N.; James, L.; Mant, R.; Newton, P.; Rooke, K.; Roques, P.; Talbot, C.; Pericak-Vance, M.; Roses, A.; Williamson, R.; Rossor, M.; Owen, M.; Hardy, J.: Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature 349: 704-706, 1991.
[0010204]792.Anzick, S. L.; Kononen, J.; Walker, R. L.; Azorsa, D. O.; Tanner, M. M.; Guan, X.-Y.; Sauter, G.; Kallioniemi, O.-P.; Trent, J. M.; Meltzer, P. S.: AIB1, a steroid receptor coactivator amplified in breast and ovarian cancer. Science 277: 965-968, 1997.
[0010205]793.Bulavin, D. V.; Demidov, O. N.; Saito, S.; Kauraniemi, P.; Phillips, C.; Amundson, S. A.; Ambrosino, C.; Sauter, G.; Nebreda, A. R.; Anderson, C. W.; Kallioniemi, A.; Fornace, A. J., Jr.; Appella, E.: Amplification of PPM1D in human tumors abrogates p53 tumor-suppressor activity. Nature Genet. 31: 210-215, 2002.
[0010206]794.Reguigne, I.; James, M. R.; Richard, C. W., III; Mollicone, R.; Seawright, A.; Lowe, J. B.; Oriol, R.; Couillin, P.: The gene encoding myeloid alpha-3-fucosyltransferase (FUT4) is located between D11S388 and D11S919 on 11q21. Cytogenet. Cell Genet. 66: 104-106, 1994.
[0010207]795.Tetteroo, P. A. T.; de Heij, H. T.; Van den Eijnden, D. H.; Visser, F. J.; Schoenmaker, E.; Geurts van Kessel, A. H. M.: A GDP-fucose:(Gal-beta-1-to-4)GlcNAc alpha-1-to-3-fucosyltransferase activity is correlated with the presence of human chromosome 11 and the expression of the Le(x), Le(y), and sialyl-Le(x) antigens in human-mouse cell hybrids. J. Biol. Chem. 262: 15984-15989, 1987.
[0010208]796.Chang, M.-L.; Eddy, R. L.; Shows, T. B.; Lau, J. T. Y.: Three genes that encode human beta-galactoside alpha-2,3-sialyltransferases. Structural analysis and chromosomal mapping studies. Glycobiology 5: 319-325, 1995.
[0010209]797.de Heij, H. T.; Tetteroo, P. A. T.; Geurts van Kessel, A. H. M.; Schoenmaker, E.; Visser, F. J.; van den Eijnden, D. H.: Specific expression of a myeloid-associated CMP-NeuAc:Gal-beta-1-3GalNAc-alpha-R-alpha-2-3-sialyltransferase and the sialyl-X determinant in myeloid human-mouse cell hybrids containing human chromosome 11. Cancer Res. 48: 1489-1493, 1988.
[0010210]798.Kitagawa, H.; Mattei, M.-G.; Paulson, J. C.: Genomic organization and chromosomal mapping of the Gal-beta-1,3GalNAc/Gal-beta-1,4GlcNAc alpha-2,3-sialyltransferase. J. Biol. Chem. 271: 931-938, 1996.
[0010211]799.Regan, J. W.; Kobilka, T. S.; Yang-Feng, T. L.; Caron, M. G.; Lefkowitz, R. J.; Kobilka, B. K.: Cloning and expression of a human kidney cDNA for an alpha-2-adrenergic receptor subtype. Proc. Nat. Acad. Sci. 85: 6301-6305, 1988.
[0010212]800.Heinonen, P.; Koulu, M.; Pesonen, U.; Karvonen, M. K.; Rissanen, A.; Laakso, M.; Valve, R.; Uusitupa, M.; Scheinin, M.: Identification of a three-amino acid deletion in the alpha-2Badrenergic receptor that is associated with reduced basal metabolic rate in obese subjects. J. Clin. Endocr. Metab. 84: 2429-2433, 1999.
[0010213]801.Lomasney, J. W.; Lorenz, W.; Allen, L. F.; King, K.; Regan, J. W.; Yang-Feng, T. L.; Caron, M. G.; Lefkowitz, R. J.: Expansion of the alpha-2-adrenergic receptor family: cloning and characterization of a human alpha-2-adrenergic receptor subtype, the gene for which is located on chromosome 2. Proc. Nat. Acad. Sci. 87: 5094-5098, 1990.
[0010214]802.Sellar, G. C.; Jordon, S. A.; Bickmore, W. A.; Fantes, J. A.; van Heyningen, V.; Whitehead, A. S.: The human serum amyloid A protein (SAA) superfamily gene cluster: mapping to chromosome 11p15.1 by physical and genetic linkage analysis. Genomics 19: 221-227, 1994.
[0010215]803.Steel, D. M.; Sellar, G. C.; Uhlar, C. M.; Simon, S.; DeBeer, F. C.; Whitehead, A. S.: A constitutively expressed serum amyloid A protein gene (SAA4) is closely linked to, and shares structural similarities with, an acute-phase serum amyloid A protein gene (SAA1). Genomics 16: 447-454, 1993.
[0010216]804.de Beer, M. C.; de Beer, F. C.; Gerardot, C. J.; Cecil, D. R.; Webb, N. R.; Goodson M. L.; Kindy, M. S.: Structure of the mouse Saa4 gene and its linkage to the serum amyloid A gene family. Genomics 34: 139-142, 1996.
[0010217]805.Watson, G.; Coade, S.; Woo, P.: Analysis of the genomic and derived protein structure of a novel human serum amyloid A gene, SAA4. Scand. J. Immun. 36: 703-712, 1992.
[0010218]806.Whitehead, A. S.; DeBeer, M. C.; Steel, D. M.; Rits, M.; Lelias, J. M.; Lane, W. S.; DeBeer, F. C.: Identification of novel members of the serum amyloid A protein superfamily as constitutive apolipoproteins of high density lipoprotein. J. Biol. Chem. 267: 3862-3867, 1992.
[0010219]807.Adler, M. J.; Coronel, C.; Shelton, E.; Seegmiller, J. E.; Dewji, N. N.: Increased gene expression of Alzheimer disease beta-amyloid precursor protein in senescent cultured fibroblasts. Proc. Nat. Acad. Sci. 88: 16-20, 1991.
[0010220]808.Ancolio, K.; Dumanchin, C.; Barelli, H.; Warter, J. M.; Brice, A.; Campion, D.; Frebourg, T.; Checler, F.: Unusual phenotypic alteration of beta amyloid precursor protein (beta-APP) maturation by a new val715-to-met beta-APP-770 mutation responsible for probable early-onset Alzheimer's disease. Proc. Nat. Acad. Sci. 96: 4119-4124, 1999.
[0010221]809.Baek, S. H.; Ohgi, K. A.; Rose, D. W.; Koo, E. H.; Glass, C. K.; Rosenfeld, M. G.: Exchange of N-CoR corepressor and Tip60 coactivator complexes links gene expression by NF-kappa-B and beta-amyloid precursor protein. Cell 110: 55-67, 2002.
[0010222]810.Bakker, E.; van Broeckhoven, C.; Haan, J.; Voorhoeve, E.; van Hul, W.; Levy, E.; Lieberburg, I.; Carman, M. D.; van Ommen, G. J. B.; Frangione, B.; Roos, R. A. C.: DNA diagnosis for hereditary cerebral hemorrhage with amyloidosis (Dutch type). Am. J. Hum. Genet. 49: 518-521, 1991.
[0010223]811.Balbin, M.; Abrahamson, M.; Gustafson, L.; Nilsson, K.; Brun, A.; Grubb, A.: A novel mutation in the beta-protein coding region of the amyloid beta-protein precursor (APP) gene. Hum. Genet. 89: 580-582, 1992.
[0010224]812.Bales, K. R.; Verina, T.; Cummins, D. J.; Du, Y.; Dodel, R. C.; Saura, J.; Fishman, C. E.; DeLong, C. A.; Piccardo, P.; Petegnief, V.; Ghetti, B.; Paul, S. M.: Apolipoprotein E is essential for amyloid deposition in the APP(V717F) transgenic mouse model of Alzheimer's disease. Proc. Nat. Acad. Sci. 96: 15233-15238, 1999.
[0010225]813.Blanquet, V.; Goldgaber, D.; Turleau, C.; Creau-Goldberg, N.; Delabar, J.; Sinet, P. M.; Roudier, M.; de Grouchy, J.: In situ hybridization of the beta amyloid protein (APP) cDNA to the vicinity of the interface of 21q21 and q22 in normal and Alzheimer's disease individuals.(Abstract) Cytogenet. Cell Genet. 46: 582 only, 1987.
[0010226]814.Calhoun, M. E.; Wiederhold, K.-H.; Abramowski, D.; Phinney, A. L.; Probst, A.; Sturchler-Pierrat, C.; Staufenbiel, M.; Sommer, B.; Jucker, M.: Neuron loss in APP transgenic mice. Nature 395: 765-766, 1998.
[0010227]815.Cao, X.; Sudhof, T. C.: A transcriptively active complex of APP with Fe65 and histone acetyltransferase Tip60. Science 293: 115-120, 2001.
[0010228]816.Carter, D.; Campion, D.; d'Amato, T.; Jay, M.; Brice, A.; Bellis, M.; Mallet, J.; Agid, Y.: No mutation in codon 713 of the amyloid precursor gene in schizophrenic patients. Hum. Molec. Genet. 2: 321, 1993.
[0010229]817.Carter, D. A.; Desmarais, E.; Bellis, M.; Campion, D.; Clerget-Darpoux, F.; Brice, A.; Agid, Y.; Jaillard-Serradt, A.; Mallet, J.: More missense in amyloid gene.(Letter) Nature Genet. 2: 255-256, 1992.
[0010230]818.Chartier-Harlin, M.-C.; Crawford, F.; Houlden, H.; Warren, A.; Hughes, D.; Fidani, L.; Goate, A.; Rossor, M.; Roques, P.; Hardy, J.; Mullan, M.: Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene. Nature 353: 844-846, 1991.
[0010231]819.Cheng, S. V.; Nadeau, J. H.; Tanzi, R. E.; Watkins, P. C.; Sacchi, N.; Neve, R. L.; Gusella, J. F.: Synteny in man and mouse of DNA markers from the chromosomal region linked to familial Alzheimer's disease and Down syndrome.(Abstract) Am. J. Hum. Genet. 41: A161 only, 1987.
[0010232]820.Citron, M.; Oltersdorf, T.; Haass, C.; McConlogue, L.; Hung, A. Y.; Seubert, P.; Vigo-Pelfrey, C.; Lieberburg, I.; Selkoe, D. J.: Mutation of the beta-amyloid precursor protein in familial Alzheimer's disease increases beta-protein production. Nature 360: 672-674, 1992.
[0010233]821.Golden, W. L.: Personal Communication. Charlottesville, Va. 1/12/1994.
[0010234]822.Golden, W. L.; von Kap-herr, C.; Kurth, B.; Wright, R. M.; Flickinger, C. J.; Eddy, R.; Shows, T.; Herr, J. C.: Refinement of the localization of the gene for human intraacrosomal protein SP-10 (ACRV1) to the junction of bands q23-q24 of chromosome 11 by nonisotopic in situ hybridization. Genomics 18: 446-449, 1993.
[0010235]823.Herr, J. C.; Wright, R. M.; Flickinger, C. J.; Eddy, R. L.; Shows, T. B.: Assignment of the gene for human intra-acrosomal protein SP-10 (ACRV1) to the p12-q13 region of chromosome 11. (Abstract) Cytogenet. Cell Genet. 58: 1963 only, 1991.
[0010236]824.Nasir, J.; Lin, B.; Bucan, M.; Koizumi, T.; Nadeau, J. H.; Hayden, M. R.: The murine homologues of the Huntington disease gene (Hdh) and the alpha-adducin gene (Add1) map to mouse chromosome 5 within a region of conserved synteny with human chromosome 4p16.3. Genomics 22: 198-201, 1994.
[0010237]825.Peters, L. L.; Birkenmeier, C. S.; Bronson, R. T.; White, R. A.; Lux, S. E.; Otto, E.; Bennett, V.; Higgins, A.; Barker, J. E.: Purkinje cell degeneration associated with erythroid ankyrin deficiency in nb/nb mice. J. Cell Biol. 114: 1233-1241, 1991.
[0010238]826.Taylor, S. A. M.; Snell, R. G.; Buckler, A.; Ambrose, C.; Duyao, M.; Church, D.; Lin, C. S.; Altherr, M.; Bates, G. P.; Groot, N.; Barnes, G.; Shaw, D. J.; Lehrach, H.; Wasmuth, J. J.; Harper, P. S.; Housman, D. E.; MacDonald, M. E.; Gusella, J. F.: Cloning of the alpha-adducin gene from the Huntington's disease candidate region of chromosome 4 by exon amplification. Nature Genet. 2: 223-227, 1992.
[0010239]827.Gilligan, D. M.; Lieman, J.; Bennett, V.: Assignment of the human beta-adducin gene (ADD2) to 2p13-p14 by in situ hybridization. Genomics 28: 610-612, 1995.
[0010240]828.Muro, A. F.; Marro, M. L.; Gajovic, S.; Porro, F.; Luzzatto, L.; Baralle, F. E.: Mild spherocytic hereditary elliptocytosis and altered levels of alpha- and gamma-adducins in beta-adducindeficient mice. Blood 95: 3978-3985, 2000.
[0010241]829.Tisminetzky, S.; Devescovi, G.; Tripodi, G.; Muro, A.; Bianchi, G.; Colombi, M.; Moro, L.; Barlati, S.; Tuteja, R.; Baralle, F. E. : Genomic organisation and chromosomal localisation of the gene encoding human beta adducin. Gene 167: 313-316, 1995.
[0010242]830.White, R. A.; Angeloni, S. V.; Pasztor, L. M.: Chromosomal localization of the betaadducin gene to mouse chromosome 6 and human chromosome 2. Mammalian Genome 6: 741-743, 1995.
[0010243]831.Abbott, C. M.; Skidmore, C. J.; Searle, A. G.; Peters, J.: Deficiency of adenosine deaminase in the wasted mouse. Proc. Nat. Acad. Sci. 83: 693-695, 1986.
[0010244]832.Adrian, G. S.; Wiginton, D. A.; Hutton, J. J.: Characterization of normal and mutant adenosine deaminase messenger RNAs by translation and hybridization to a cDNA probe. Hum. Genet. 68: 169-172, 1984.
[0010245]833.Adrian, G. S.; Wiginton, D. A.; Hutton, J. J.: Structure of adenosine deaminase mRNAs from normal and adenosine deaminase-deficient human cell lines. Molec. Cell. Biol. 4: 1712-1717, 1984.
[0010246]834.Aitken, D. A.; Ferguson-Smith, M. A.: Investigation of the intrachromosomal position of the ADA locus on chromosome 20 by gene dosage studies. Cytogenet. Cell Genet. 22: 514-517, 1978.
[0010247]835.Aitken, D. A.; Kleijer, W. J.; Niermeijer, M. F.; Herbschleb-Voogt, E.; Galjaard, H.: Prenatal detection of a probable heterozygote for ADA deficiency and severe combined immunodeficiency disease using a microradioassay. Clin. Genet. 17: 293-298, 1980.
[0010248]836.Aiuti, A.; Slavin, S.; Aker, M.; Ficara, F.; Deola, S.; Mortellaro, A.; Morecki, S.; Andolfi, G.; Tabucchi, A.; Carlucci, F.; Marinello, E.; Cattaneo, F.; Vai, S.; Servida, P.; Miniero, R.; Roncarolo, M. G.; Bordignon, C.: Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning. Science 296: 2410-2413, 2002.
[0010249]837.Akeson, A. L.; Wiginton, D. A.; Dusing, M. R.; States, J. C.; Hutton, J. J.: Mutant human adenosine deaminase alleles and their expression by transfection into fibroblasts. J. Biol. Chem. 263: 16291-16296, 1988.
[0010250]838.Akeson, A. L.; Wiginton, D. A.; Hutton, J. J.: Normal and mutant human adenosine deaminase genes. J. Cell. Biochem. 39: 217-228, 1989.
[0010251]839.Akeson, A. L.; Wiginton, D. A.; States, J. C.; Perme, C. M.; Dusing, M. R.; Hutton, J. J.: Mutations in the human adenosine deaminase gene that affect protein structure and RNA splicing. Proc. Nat. Acad. Sci. 84: 5947-5951, 1987.
[0010252]840.Arredondo-Vega, F. X.; Kurtzberg, J.; Chaffee, S.; Santisteban, I.; Reisner, E.; Povey, M. S.; Hershfield, M. S.: Paradoxical expression of adenosine deaminase in T cells cultured from a patient with adenosine deaminase deficiency and combined immunodeficiency. J. Clin. Invest. 86: 444-452, 1990.
[0010253]841.Arredondo-Vega, F. X.; Santisteban, I.; Kelly, S.; Schlossman, C. M.; Umetsu, D. T.; Hershfield, M. S.: Correct splicing despite mutation of the invariant first nucleotide of a 5-prime splice site: a possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency. Am. J. Hum. Genet. 54: 820-830, 1994.
[0010254]842.Arredondo-Vega, F. X.; Santisteban, I.; Richard, E.; Bali, P.; Koleilat, M.; Loubser, M.; Al-Ghonaium, A.; Al-Helali, M.; Hershfield, M. S.: Adenosine deaminase deficiency with mosaicism for a 'second-site suppressor' of a splicing mutation: decline in revertant T lymphocytes during enzyme replacement therapy. Blood 99: 1005-1013, 2002.
[0010255]843.Berkvens, T. M.; Gerritsen, E. J. A.; Oldenburg, M.; Breukel, C.; Wijnen, J. T.; van Ormondt, H.; Vossen, J. M.; van der Eb, A. J.; Meera Khan, P.: Severe combined immune deficiency due to a homozygous 3.2-kb deletion spanning the promoter and first exon of the adenosine deaminase gene. Nucleic Acids Res. 15: 9365-9378, 1987.
[0010256]844.Salerno, C.; Iotti, S.; Lodi, R.; Crifo, C.; Barbiroli, B.: Failure of muscle energy metabolism in a patient with adenylosuccinate lyase deficiency: an in vivo study by phosphorus NMR spectroscopy. Biochim. Biophys. Acta 1360: 271-276, 1997.
[0010257]845.Sebesta, I.; Krijt, J.; Kmoch, S.; Hartmannova, H.; Wojda, M.; Zeman, J.: Adenylosuccinase deficiency: clinical and biochemical findings in 5 Czech patients. J. Inherit. Metab. Dis. 20: 343-344, 1997.
[0010258]846.Stone, R. L.; Aimi, J.; Barshop, B. A.; Jaeken, J.; Van den Berghe, G.; Zalkin, H.; Dixon, J. E.: A mutation in adenylosuccinate lyase associated with mental retardation and autistic features. Nature Genet. 1: 59-63, 1992.
[0010259]847.Van Keuren, M. L.; Hart, I.; Kao, F.-T.; Neve, R. L.; Bruns, G. A. P.; Kurnit, D. M.; Patterson, D.: Human chromosome 22 corrects the defect in the CHO mutant (Ade-I) lacking adenylosuccinase activity. (Abstract) Am. J. Hum. Genet. 39: A172 only, 1986.
[0010260]848.Van Keuren, M. L.; Hart, I. M.; Kao, F.-T.; Neve, R. L.; Bruns, G. A. P.; Kurnit, D. M.; Patterson, D.: A somatic cell hybrid with a single human chromosome 22 corrects the defect in the CHO mutant (Ade-I) lacking adenylosuccinase activity. Cytogenet. Cell Genet. 44: 142-147, 1987.
[0010261]849.Verginelli, D.; Luckow, B.; Crifo, C.; Salerno, C.; Gross, M. : Identification of new mutations in the adenylosuccinate lyase gene associated with impaired enzyme activity in lymphocytes and red blood cells. Biochim. Biophys. Acta 1406: 81-84, 1998.
[0010262]850.Wong, L.-J. C.; O'Brien, W. E.: Characterization of the cDNA and the gene encoding murine adenylosuccinate lyase. Genomics 28: 341-343, 1995.
[0010263]851.Lai, L.; Hart, I.; Patterson, D.: Human chromosome 1 corrects the defect in the CHO mutant (Ade-H) deficient in a branch point enzyme in purine de novo biosynthesis. (Abstract) Cytogenet. Cell Genet. 51: 1028 only, 1989.
[0010264]852.Lai, L.-W.; Hart, I. M.; Patterson, D.: A gene correcting the defect in the CHO mutant Ade(-)H, deficient in a branch point enzyme (adenylosuccinate synthetase) of de novo purine biosynthesis, is located on the long arm of chromosome 1. Genomics 9: 322-328, 1991.
[0010265]853.Powell, S. M.; Zalkin, H.; Dixon, J. E.: Cloning and characterization of the cDNA encoding human adenylosuccinate synthetase. FEBS Lett. 303: 4-10, 1992.
[0010266]854.Parma, J.; Stengel, D.; Gannage, M.-H.; Poyard, M.; Barouki, R.; Hanoune, J.: Sequence of a human brain adenylyl cyclase partial cDNA: evidence for a consensus cyclase domain. Biochem. Biophys. Res. Commun. 179: 455-462, 1991.
[0010267]855.Stengel, D.; Parma, J.; Gannage, M.-H.; Roeckel, N.; Mattei, M.-G.; Barouki, R.; Hanoune, J.: Different chromosomal localization of two adenylyl cyclase genes expressed in human brain. Hum. Genet. 90: 126-130, 1992.
[0010268]856.Edelhoff, S.; Villacres, E. C.; Storm, D. R.; Disteche, C. M.: Mapping of adenylyl cyclase genes type I, II, III, IV, V, and VI in mouse. Mammalian Genome 6: 111-113, 1995.
[0010269]857.Gaudin, C.; Homcy, C. J.; Ishikawa, Y.: Mammalian adenylyl cyclase family members are randomly located on different chromosomes. Hum. Genet. 94: 527-529, 1994.
[0010270]858.Wong, S. T.; Trinh, K.; Hacker, B.; Chan, G. C. K.; Lowe, G.; Gaggar, A.; Xia, Z.; Gold, G. H.; Storm, D. R.: Disruption of the type III adenylyl cyclase gene leads to peripheral and behavioral anosmia in transgenic mice. Neuron 27: 487-497, 2000.
[0010271]859.Abdel-Majid, R. M.; Leong, W. L.; Schalkwyk, L. C.; Smallman, D. S.; Wong, S. T.; Storm, D. R.; Fine, A.; Dobson, M. J.; Guernsey, D. L.; Neumann, P. E.: Loss of adenylyl cyclase I activity disrupts patterning of mouse somatosensory cortex. Nature Genet. 19: 289-291, 1998.
[0010272]860.Villacres, E. C.; Xia, Z.; Bookbinder, L. H.; Edelhoff, S.; Disteche, C. M.; Storm, D. R.: Cloning, chromosomal mapping, and expression of human fetal brain type I adenylyl cyclase. Genomics 16: 473-478, 1993.
[0010273]861.Welker, E.; Armstrong-James, M.; Bronchti, G.; Ourednik, W.; Gheorghita-Baechler, F.; Dubois, R.; Guernsey, D. L.; Van der Loos, H.; Neumann, P. E. : Altered sensory processing in the somatosensory cortex of the mutant mouse barrelless. Science 271: 1864-1867, 1996.
[0010274]862.Amor, J. C.; Harrison, D. H.; Kahn, R. A.; Ringe, D.: Structure of the human ADPribosylation factor 1 complexed with GDP. Nature 372: 704-708, 1994.
[0010275]863.Bobak, D. A.; Nightingale, M. S.; Murtagh, J. J.; Price, S. R.; Moss, J.; Vaughan, M.: Molecular cloning, characterization, and expression of human ADP-ribosylation factors: two guanine nucleotide-dependent activators of cholera toxin. Proc. Nat. Acad. Sci. 86: 6101-6105, 1989.
[0010276]864.Hirai, M.; Kusuda, J.; Hashimoto, K.: Assignment of human ADP ribosylation factor (ARF) genes ARF1 and ARF3 to chromosomes 1q42 and 12q13, respectively. Genomics 34: 263-265, 1996.
[0010277]865.Lee, C.-M.; Haun, R. S.; Tsai, S.-C.; Moss, J.; Vaughan, M.: Characterization of the human gene encoding ADP-ribosylation factor 1, a guanine nucleotide-binding activator of cholera toxin. J. Biol. Chem. 267: 9028-9034, 1992.
[0010278]866.Mossessova, E.; Gulbis, J. M.; Goldberg, J.: Structure of the guanine nucleotide exchange factor Sec7 domain of human Arno and analysis of the interaction with ARF GTPase. Cell 92: 415-423, 1998.
[0010279]867.Edman, K.; Maret, W.: Alcohol dehydrogenase genes: restriction fragment length polymorphisms for ADH4 (pi-ADH) and ADH5 (chi-ADH) for construction of haplotypes among different ADH classes. Hum. Genet. 90: 395-401, 1992.
[0010280]868.Li, T.-K.; Bosron, W. F.; Dafeldecker, W. P.; Lange, L. G.; Vallee, B. L.: Isolation of PIalcohol dehydrogenase of human liver: is it a determinant of alcoholism? Proc. Nat. Acad. Sci. 74: 4378-4381, 1977.
[0010281]869.Mardh, G.; Dingley, A. L.; Auld, D. S.; Vallee, B. L.: Human class II (pi) alcohol dehydrogenase has a redox-specific function in norepinephrine metabolism. Proc. Nat. Acad. Sci. 83: 8908-8912, 1986.
[0010282]870.McPherson, J. D.; Smith, M.; Wagner, C.; Wasmuth, J. J.; Hoog, J.-O.: Mapping of the class II alcohol dehydrogenase gene locus to 4q22. (Abstract) Cytogenet. Cell Genet. 51: 1043 only, 1989.
[0010283]871.Vallee, B. L.; Bazzone, T. J.: Isozymes of human liver alcohol dehydrogenase.In: Rattazzi, M. C.; Scandalios, J. G.; Whitt, G. S. : Isozymes. Current Topics in Biological and Medical Research. New York: Alan R. Liss (pub.) 8: 1983. Pp. 219-244.
[0010284]872.Badawi, A. F.; Hirvonen, A.; Bell, D. A.; Lang, N. P.; Kadlubar, F. F.: Role of aromatic amine acetyltransferases, NAT1 and NAT2, in carcinogen-DNA adduct formation in the human urinary bladder. Cancer Res. 55: 5230-5237, 1995.
[0010285]873.Bell, D. A.; Badawi, A. F.; Lang, N. P.; Ilett, K. P.; Kadlubar, F. F.; Hirvonen, A.: Polymorphism in the N-acetyltransferase 1 (NAT1) polyadenylation signal: association of NAT1*10 allele with higher N-acetylation activity in bladder and colon tissue. Cancer Res. 55: 5226-5229, 1995.
[0010286]874.Bell, D. A.; Stephens, E. A.; Castranio, T.; Umbach, D. M.; Watson, M.; Deakin, M.; Elder, J.; Hendrickse, C.; Duncan, H.; Strange, R. C.: Polyadenylation polymorphism in the acetyltransferase 1 gene (NAT1) increases risk of colorectal cancer. Cancer Res. 55: 3537-3542, 1995.
[0010287]875.Blum, M.; Grant, D. M.; McBride, W.; Heim, M.; Meyer, U. A.: Human arylamine Nacetyltransferase genes: isolation, chromosomal localization, and functional expression. DNA Cell Biol. 9: 193-203, 1990.
[0010288]876.Bouchardy, C.; Mitrunen, K.; Wikman, H.; Husgafvel-Pursiainen, K.; Dayer, P.; Benhamou, S.; Hirvonen, A.: N-acetyltransferase NAT1 and NAT2 genotypes and lung cancer risk. Pharmacogenetics 8: 291-298, 1998.
[0010289]877.Butcher, N. J.; Ilett, K. F.; Minchin, R. F.: Functional polymorphism of the human arylamine N-acetyltransferase type 1 gene caused by C190T and G560A mutations. Pharmacogenetics 8: 67-72, 1998.
[0010290]878.Doll, M. A.; Jiang, W.; Deitz, A. C.; Rustan, T. D.; Hein, D. W. : Identification of a novel allele at the human NAT1 acetyltransferase locus. Biochem. Biophys. Res. Commun. 233: 584-591, 1997.
[0010291]879.Evans, D. A. P.: Personal Communication. Saudi Arabia 6/1/1998.
[0010292]880.Evans, D. A. P.: Genetic Factors in Drug Therapy: Clinical and Molecular Pharmacogenetics. Cambridge: Cambridge Univ. Press , 1993. Pp. 211-305.
[0010293]881.Hickman, D.; Risch, A.; Buckle, V.; Spurr, N. K.; Jeremiah, S. J.; McCarthy, A.; Sim, E.: Chromosomal localization of human genes for arylamine N-acetyltransferase. Biochem. J. 297: 441-445, 1994.
[0010294]882.Matas, N.; Thygesen, P.; Stacey, M.; Risch, A.; Sim, E.: Mapping AAC1, AAC2 and AACP, the genes for arylamine N-acetyltransferases, carcinogen metabolising enzymes on human chromosome 8p22, a region frequently deleted in tumours. Cytogenet. Cell Genet. 77: 290-295, 1997.
[0010295]883.Mattano, S. S.; Erickson, R. P.; Nesbitt, M. N.; Weber, W. W. : Linkage of Nat and Es-1 in the mouse and development of strains congenic for N-acetyltransferase. J. Hered. 79: 430-433, 1988.
[0010296]884.Moisio, A.-L.; Sistonen, P.; Mecklin, J.-P.; Jarvinen, H.; Peltomaki, P.: Genetic polymorphisms in carcinogen metabolism and their association to hereditary nonpolyposis colon cancer. Gastroenterology 115: 1387-1394, 1998.
[0010297]885.Sim, E.; Payton, M.; Noble, M.; Minchin, R.: An update on genetic, structural and functional studies of arylamine N-acetyltransferases in eucaryotes and procaryotes. Hum. Molec. Genet. 9: 2435-2441, 2000.
[0010298]886.Smelt, V. A.; Upton, A.; Adjaye, J.; Payton, M. A.; Boukouvala, S.; Johnson, N.; Mardon, H. J.; Sim, E.: Expression of arylamine N-acetyltransferases in pre-term placentas and in human pre-implantation embryos. Hum. Molec. Genet. 9: 1101-1107, 2000.
[0010299]887.Vatsis, K. P.; Martell, K. J.; Weber, W. W.: Diverse point mutations in the human gene for polymorphic N-acetyltransferase. Proc. Nat. Acad. Sci. 88: 6333-6337, 1991.
[0010300]888.Vatsis, K. P.; Weber, W. W.: Structural heterogeneity of Caucasian N-acetyltransferase at the NAT1 gene locus. Arch. Biochem. Biophys. 301: 71-76, 1993.
[0010301]889.Vatsis, K. P.; Weber, W. W.; Bell, D. A.; Dupret, J.-M.; Price Evans, D. A.; Grant, D. M.; Hein, D. W.; Lin, H. J.; Meyer, U. A.; Relling, M. V.; Sim, E.; Suzuki, T.; Yamazoe, Y.: Nomenclature for N-acetyltransferases. Pharmacogenetics 5: 1-17, 1995.
[0010302]890.Huebner, K.; Kastury, K.; Druck, T.; Salcini, A. E.; Lanfrancone, L.; Pelicci, G.; Lowenstein, E.; Li, W.; Park, S.-H.; Cannizzaro, L.; Pelicci, P. G.; Schlessinger, J.: Chromosome locations of genes encoding human signal transduction adapter proteins, Nck (NCK), Shc (SHC1), and Grb2 (GRB2). Genomics 22: 281-287, 1994.
[0010303]891.Asimakopoulos, F. A.; White, N. J.; Nacheva, E. P.; Green, A. R. : The human CD40 gene lies within chromosome 20q deletions associated with myeloid malignancies. Brit. J. Haemat. 92: 127-130, 1996.
[0010304]892.Castigli, E.; Alt, F. W.; Davidson, L.; Bottaro, A.; Mizoguchi, E.; Bhan, A. K.; Geha, R. S.: CD40-deficient mice generated by recombination-activating gene-2-deficient blastocyst complementation. Proc. Nat. Acad. Sci. 91: 12135-12139, 1994.
[0010305]893.Clark, E. A.: CD40: a cytokine receptor in search of a ligand. Tissue Antigens 35: 33-36, 1990.
[0010306]894.Erickson, L. D.; Durell, B. G.; Vogel, L. A.; O'Connor, B. P.; Cascalho, M.; Yasui, T.; Kikutani, H.; Noelle, R. J.: Short-circuiting long-lived humoral immunity by the heightened engagement of CD40. J. Clin. Invest. 109: 613-620, 2002.
[0010307]895.Ferrari, S.; Giliani, S.; Insalaco, A.; Al-Ghonaium, A.; Soresina, A. R.; Loubser, M.; Avanzini, M. A.; Marconi, M.; Badolato, R.; Ugazio, A. G.; Levy, Y.; Catalan, N.; Durandy, A.; Tbakhi, A.; Notarangelo, L. D.; Plebani, A.: Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM. Proc. Nat. Acad. Sci. 98: 12614-12619, 2001.
[0010308]896.Kato, K.; Cantwell, M. J.; Sharma, S.; Kipps, T. J.: Gene transfer of CD40-ligand induces autologous immune recognition of chronic lymphocytic leukemia B cells. J. Clin. Invest. 101: 1133-1141, 1998.
[0010309]897.Kawabe, T.; Naka, T.; Yoshida, K.; Tanaka, T.; Fujiwara, H.; Suematsu, S.; Yoshida, N.; Kishimoto, T.; Kikutani, H.: The immune responses in CD40-deficient mice: impaired immunoglobulin class switching and germinal center formation. Immunity 1: 167-178, 1994.
[0010310]898.Lafage-Pochitaloff, M.; Herman, P.; Birg, F.; Galizzi, J.-P.; Simonetti, J.; Mannoni, P.; Banchereau, J.: Localization of the human CD40 gene to chromosome 20, bands q12-q13.2. Leukemia 8: 1172-1175, 1994.
[0010311]899.Mach, F.; Schonbeck, U.; Sukhova, G. K.; Atkinson, E.; Libby, P. : Reduction of atherosclerosis in mice by inhibition of CD40 signalling. Nature 394: 200-203, 1998.
[0010312]900.Schonbeck, U.; Libby, P.: The CD40/CD154 receptor/ligand dyad. Cell Molec. Life Sci. 58: 4-43, 2001.
[0010313]901.Stamenkovic, I.; Clark, E. A.; Seed, B.: A B-lymphocyte activation molecule related to the nerve growth factor receptor and induced by cytokines in carcinomas. EMBO J. 8: 1403-1410, 1989.
[0010314]902.Tan, J.; Town, T.; Paris, D.; Mori, T.; Suo, Z.; Crawford, F.; Mattson, M. P.; Flavell, R. A.; Mullan, M.: Microglial activation resulting from CD40-CD40L interaction after beta-amyloid stimulation. Science 286: 2352-2355, 1999.
[0010315]903.van Kooten, C.; Banchereau, J.: CD40-CD40 ligand. J. Leuko. Biol. 67: 2-17, 2000.
[0010316]904.Gras, M. P.; Laabi, Y.; Linares-Cruz, G.; Blondel, M. O.; Rigaut, J. P.; Brouet, J. C.; Leca, G.; Haguenauer-Tsapis, R.; Tsapis, A. : BCMAp: an integral membrane protein in the Golgi apparatus of human mature B lymphocytes. Int. Immun. 7: 1093 only, 1995.
[0010317]905.Hatzoglou, A.; Roussel, J.; Bourgeade, M.-F.; Rogier, E.; Madry, C.; Inoue, J.; Devergne, O.; Tsapis, A.: TNF receptor family member BCMA (B cell maturation) associates with TNF receptorassociated factor (TRAF) 1, TRAF2, and TRAF3 and activates NF-kappa-B, Elk-1, c-Jun N-terminal kinase, and p38 mitogen-activated protein kinase. J. Immun. 165: 1322-1330, 2000.
[0010318]906.Laabi, Y.; Gras, M. P.; Carbonnel, F.; Brouet, J. C.; Berger, R.; Larsen, C. J.; Tsapis, A.: A new gene, BCM, on chromosome 16 is fused to the interleukin 2 gene by a t(4;16)(q26;p13) translocation in a malignant T cell lymphoma. EMBO J. 11: 3897-3904, 1992.
[0010319]907.Bhatia, K.; Huppi, K.; McKeithan, T.; Siwarski, D.; Mushinski, J. F.; Magrath, I.: Mouse bcl-3: cDNA structure, mapping and stage-dependent expression in B lymphocytes. Oncogene 6: 1569-1573, 1991.
[0010320]908.Franzoso, G.; Bours, V.; Park, S.; Tomita-Yamaguchi, M.; Kelly, K.; Siebenlist, U.: The candidate oncoprotein Bcl-3 is an antagonist of p50/NF-kappa-B-mediated inhibition. Nature 359: 338-342, 1992.
[0010321]909.Mitchell, T. C.; Hildeman, D.; Kedl, R. M.; Teague, T. K.; Schaefer, B. C.; White, J.; Zhu, Y.; Kappler, J.; Marrack, P.: Immunological adjuvants promote activated T cell survival via induction of Bcl-3. Nature Immun. 2: 397-402, 2001.
[0010322]910.Anstee, D. J.: The blood group MNSs-active sialoglycoproteins. Seminars Hemat. 18: 13-31, 1981.
[0010323]911.Bias, W. B.; Meyers, D. A.: Segregation and linkage analysis of the Stoltzfus blood group (SF). (Abstract) Cytogenet. Cell Genet. 25: 137, 1979.
[0010324]912.Blumenfeld, O. O.; Adamany, A. M.: Structural (glycophorins) of the human erythrocyte membrane. Proc. Nat. Acad. Sci. 75: 2727-2731, 1978.
[0010325]913.Blumenfeld, O. O.; Huang, C.-H.: Molecular genetics of the glycophorin gene family, the antigens for MNSs blood groups: multiple gene rearrangements and modulation of splice site usage result in extensive diversification. Hum. Mutat. 6: 199-209, 1995.
[0010326]914.Cook, P. J. L.; Lindenbaum, R. H.; Salonen, R.; de la Chapelle, A.; Daker, M. G.; Buckton, K. E.; Noades, J. E.; Tippett, P.: The MNSs blood groups of families with chromosome 4 rearrangements. Ann. Hum. Genet. 45: 39-47, 1981.
[0010327]915.Cook, P. J. L.; Noades, J. E.; Lomas, C. G.; Buckton, K. E.; Robson, E. B.: Exclusion mapping illustrated by the MNSs blood group. Ann. Hum. Genet. 44: 61-73, 1980.
[0010328]916.Cook, P. J. L.; Robson, E. B.; Buckton, K. E.; Slaughter, C. A.; Gray, J. E.; Blank, C. E.; James, F. E.; Ridler, M. A. C.; Insley, J.; Hulten, M.: Segregation of ABO, AK-1 and ACON-S in families with abnormalities of chromosome 9. Ann. Hum. Genet. 41: 365-377, 1978.
[0010329]917.Divelbiss, J.; Shiang, R.; German, J.; Moore, J.; Murray, J. C.; Patil, S. R.: Refinement of the physical location of glycophorin A and beta fibrinogen using in situ hybridization and RFLP analysis. (Abstract) Cytogenet. Cell Genet. 51: 991, 1989.
[0010330]918.Evans, R. M.: The steroid and thyroid hormone receptor superfamily. Science 240: 889-895, 1988.
[0010331]919.Bader, B. L.; Rayburn, H.; Crowley, D.; Hynes, R. O.: Extensive vasculogenesis, angiogenesis, and organogenesis precede lethality in mice lacking all alpha-V integrins. Cell 95: 507-519, 1998.
[0010332]920.Fernandez-Ruiz, E.; de Villena, F. P.-M.; Rodriguez de Cordoba, S.; Sanchez-Madrid, F.: Regional localization of the human vitronectin receptor alpha-subunit gene (VNRA) to chromosome 2q31-q32. Cytogenet. Cell Genet. 62: 26-28, 1993.
[0010333]921.Sims, M. A.; Field, S. D.; Barnes, M. R.; Shaikh, N.; Ellington, K.; Murphy, K. E.; Spurr, N.; Campbell, D. A.: Cloning and characterisation of ITGAV, the genomic sequence for human cell adhesion protein (vitronectin) receptor alpha subunit, CD51. Cytogenet. Cell Genet. 89: 268-271, 2000.
[0010334]922.Suzuki, S.; Argraves, W. S.; Pytela, R.; Arai, H.; Krusius, T.; Pierschbacher, M. D.; Ruoslahti, E.: cDNA and amino acid sequences of the cell adhesion protein receptor recognizing vitronectin reveal a transmembrane domain and homologies with other adhesion protein receptors. Proc. Nat. Acad. Sci. 83: 8614-8618, 1986.
[0010335]923.Blachly-Dyson, E.; Baldini, A.; Litt, M.; McCabe, E. R. B.; Forte, M.: Human genes encoding the voltage-dependent anion channel (VDAC) of the outer mitochondrial membrane: mapping and identification of two new isoforms. Genomics 20: 62-67, 1994.
[0010336]924.Blachly-Dyson, E.; Zambronicz, E. B.; Yu, W. H.; Adams, V.; McCabe, E. R. B.; Adelman, J.; Colombini, M.; Forte, M.: Cloning and functional expression in yeast of two human isoforms of the outer mitochondrial membrane channel, the voltage-dependent anion channel. J. Biol. Chem. 268: 1835-1841, 1993.
[0010337]925.Huizing, M.; Ruitenbeek, W.; van den Heuvel, L. P.; Dolce, V.; Iacobazzi, V.; Smeitink, J. A. M.; Palmieri, F.; Trijbels, J. M. F. : Human mitochondrial transmembrane metabolite carriers: tissue distribution and its implication for mitochondrial disorders. J. Bioenerg. Biomembr. 30: 277-284, 1998.
[0010338]926.Aubry, M.; Demczuk, S.; Desmaze, C.; Aikem, M.; Aurias, A.; Julien, J.-P.; Rouleau, G. A.: Isolation of a zinc finger gene consistently deleted in DiGeorge syndrome. Hum. Molec. Genet. 2: 1583-1587, 1993.
[0010339]927.Myslinski, E.; Krol, A.; Carbon, P.: ZNF76 and ZNF143 are two human homologs of the transcriptional activator Staf. J. Biol. Chem. 273: 21998-22006, 1998.
[0010340]928.Saleh, M.; Selleri, L.; Evans, G. A.: A novel zinc finger gene on human chromosome 1qter that is alternatively spliced in human tissues and cell lines. Am. J. Hum. Genet. 52: 192-203, 1993.
[0010341]929.Tommerup, N.; Aagaard, L.; Lund, C. L.; Boel, E.; Baxendale, S.; Bates, G. P.; Lehrach, H.; Vissing, H.: A zinc-finger gene ZNF141 mapping at 4p16.3/D4S90 is a candidate gene for the Wolf-Hirschhorn (4p-) syndrome. Hum. Molec. Genet. 2: 1571-1575, 1993.
[0010342]930.McAlpine, P. J.; Coopland, G.; Guy, C.; James, S.; Komarnicki, L.; MacDonald, M.; Stranc, L.; Lewis, M.; Philipps, S.; Coghlan, G.; Kaita, H.; Cox, D. W.; Guinto, E. R.; MacGillivray, R.: Mapping the genes for erythrocytic alpha-spectrin 1 (SPTA1) and coagulation factor V (F5). (Abstract) Cytogenet. Cell Genet. 51: 1042, 1989.
[0010343]931.de Silva, H. V.; Harmony, J. A. K.; Stuart, W. D.; Gil, C. M.; Robbins, J.: Apolipoprotein J: structure and tissue distribution. Biochemistry 29: 5380-5389, 1990.
[0010344]932.de Silva, H. V.; Stuart, W. D.; Park, Y. B.; Mao, S. J. T.; Gil, C. M.; Wetterau, J. R.; Busch, S. J.; Harmony, J. A. K.: Purification and characterization of apolipoprotein J. J. Biol. Chem. 265: 14292-14297, 1990.
[0010345]933.Dietzsch, E.; Murphy, B. F.; Kirszbaum, L.; Walker, I. D.; Garson, O. M.: Regional localization of the gene for clusterin (SP-40,40; gene symbol CLI) to human chromosome 8p12-p21. Cytogenet. Cell Genet. 61: 178-179, 1992.
[0010346]934.Dragunow, M.; Preston, K.; Dodd, J.; Young, D.; Lawlor, P.; Christie, D.: Clusterin accumulates in dying neurons following status epilepticus. Molec. Brain Res. 32: 279-290, 1995.
[0010347]935.Duguid, J. R.; Bohmont, C. W.; Liu, N.; Tourtellotte, W. W.: Changes in brain gene expression shared by scrapie and Alzheimer disease. Proc. Nat. Acad. Sci. 86: 7260-7264, 1989.
[0010348]936.Fink, T. M.; Zimmer, M.; Tschopp, J.; Etienne, J.; Jenne, D. E.; Lichter, P.: Human clusterin (CLI) maps to 8p21 in proximity to the lipoprotein lipase (LPL) gene. Genomics 16: 526-528, 1993.
[0010349]937.Han, B. H.; DeMattos, R. B.; Dugan, L. L.; Kim-Han, J. S.; Brendza, R. P.; Fryer, J. D.; Kierson, M.; Cirrito, J.; Quick, K.; Harmony, J. A. K.; Aronow, B. J.; Holtzman, D. M.: Clusterin contributes to caspase-3-independent brain injury following neonatal hypoxia-ischemia. Nature Med. 7: 338-343, 2001.
[0010350]938.Jenne, D. E.; Tschopp, J.: Clusterin: the intriguing guises of a widely expressed glycoprotein. Trends Biochem. Sci. 17: 154-159, 1992.
[0010351]939.Kamboh, M. I.; Harmony, J. A. K.; Sepehrnia, B.; Nwankwo, M.; Ferrell, R. E.: Genetic studies of human apolipoproteins. XX. Genetic polymorphism of apolipoprotein J and its impact on quantitative lipid traits in normolipidemic subjects. Am. J. Hum. Genet. 49: 1167-1173, 1991.
[0010352]940.Kirszbaum, L.; Sharpe, J. A.; Murphy, B.; d'Apice, A. J. F.; Classon, B.; Hudson, P.; Walker, I. D.: Molecular cloning and characterization of the novel, human complement-associated protein, SP-40,40: a link between the complement and reproductive systems. EMBO J. 8: 711-718, 1989.
[0010353]941.Murphy, B. F.; Kirszbaum, L.; Walker, I. D.; d'Apice, A. J. F. : SP-40,40, a newly identified normal human serum protein found in the SC5b-9 complex of complement and in the immune deposits in glomerulonephritis. J. Clin. Invest. 81: 1858-1864, 1988.
[0010354]942.O'Bryan, M. K.; Baker, H. W. G.; Saunders, J. R.; Kirszbaum, L.; Walker, I. D.; Hudson, P.; Liu, D. Y.; Glew, M. D.; d'Apice, A. J. F.; Murphy, B. F.: Human seminal clusterin (SP-40,40): isolation and characterization. J. Clin. Invest. 85: 1477-1486, 1990.
[0010355]943.Purrello, M.; Bettuzzi, S.; Di Pietro, C.; Mirabile, E.; Di Blasi, M.; Rimini, R.; Grzeschik, K.-H.; Ingletti, C.; Corti, A.; Sichel, G.: The gene for SP-40,40, human homolog of rat sulfated glycoprotein 2, rat clusterin, and rat testosterone-repressed prostate message 2, maps to chromosome 8. Genomics 10: 151-156, 1991.
[0010356]944.Slawin, K.; Sawczuk, I. S.; Olsson, C. A.; Buttyan, R.: Chromosomal assignment of the human homologue encoding SGP-2. Biochem. Biophys. Res. Commun. 172: 160-164, 1990.
[0010357]945.Alves, S.; Prata, M.-J.; Ferreira, F.; Amorim, A.: Thiopurine methyltransferase pharmacogenetics: alternative molecular diagnosis and preliminary data from Northern Portugal. Pharmacogenetics 9: 257-261, 1999.
[0010358]946.Ameyaw, M.-M.; Collie-Duguid, E. S. R.; Powrie, R. H.; Ofori-Adjei, D.; McLeod, H. L.: Thiopurine methyltransferase alleles in British and Ghanaian populations. Hum. Molec. Genet. 8: 367-370, 1999.
[0010359]947.Collie-Duguid, E. S. R.; Pritchard, S. C.; Powrie, R. H.; Sludden, J.; Collier, D. A.; Li, T.; McLeod, H. L.: The frequency and distribution of thiopurine methyltransferase alleles in Caucasian and Asian populations. Pharmacogenetics 9: 37-42, 1999.
[0010360]948.Evans, W. E.; Horner, M.; Chu, Y. Q.; Kalwinsky, D.; Roberts, W. M.: Altered mercaptopurine metabolism, toxic effects, and dosage requirement in a thiopurine methyltransferasedeficient child with acute lymphocytic leukemia. J. Pediat. 119: 985-989, 1991.
[0010361]949.Hon, Y. Y.; Fessing, M. Y.; Pui, C.-H.; Relling, M. V.; Krynetski, E. Y.; Evans, W. E.: Polymorphism of the thiopurine S-methyltransferase gene in African-Americans. Hum. Molec. Genet. 8: 371-376, 1999.
[0010362]950.Honchel, R.; Aksoy, I. A.; Szumlanski, C.; Wood, T. C.; Otterness, D. M.; Wieben, E. D.; Weinshilboum, R. M.: Human thiopurine methyltransferase: molecular cloning and expression of T84 colon carcinoma cell cDNA. Molec. Pharm. 43: 878-887, 1993.
[0010363]951.Klemetsdal, B.; Wist, E.; Aarbakke, J.: Gender difference in red blood cell thiopurine methyltransferase activity. Scand. J. Clin. Lab. Invest. 53: 747-749, 1993.
[0010364]952.Krynetski, E. Y.; Schuetz, J. D.; Galpin, A. J.; Pui, C.-H.; Relling, M. V.; Evans, W. E.: A single point mutation leading to loss of catalytic activity in human thiopurine S-methyltransferase. Proc. Nat. Acad. Sci. 92: 949-953, 1995.
[0010365]953.Lennard, L.; Lilleyman, J. S.; Van Loon, J.; Weinshilboum, R. M. : Genetic variation in response to 6-mercaptopurine for childhood acute lymphoblastic leukaemia. Lancet 336: 225-229, 1990.
[0010366]954.Lennard, L.; Van Loon, J. A.; Weinshilboum, R. M.: Pharmacogenetics of acute azathioprine toxicity: relationship to thiopurine methyltransferase genetic polymorphism. Clin. Pharm. Therap. 46: 149-154, 1989.
[0010367]955.McLeod, H. L.; Pritchard, S. C.; Githang'a, J.; Indalo, A.; Ameyaw, M.-M.; Powrie, R. H.; Booth, L.; Collie-Duguid, E. S. R.: Ethnic differences in thiopurine methyltransferase pharmacogenetics: evidence for allele specificity in Caucasian and Kenyan individuals. Pharmacogenetics 9: 773-776, 1999.
[0010368]956.Otterness, D.; Szumlanski, C.; Lennard, L. Klemetsdal, B.; Aarbakke, J.; Park-Hah, J. O.; Iven, H.; Schmiegelow, K.; Branum, E.; O'Brien, J.; Weinshilboum, R.: Human thiopurine methyltransferase pharmacogenetics: gene sequence polymorphisms. Clin. Pharm. Therap. 62: 60-73, 1997.
[0010369]957.Otterness, D. M.; Szumlanski, C. L.; Wood, T. C.; Weinshilboum, R. M.: Human thiopurine methyltransferase pharmacogenetics: kindred with a terminal exon splice junction mutation that results in loss of activity. J. Clin. Invest. 101: 1036-1044, 1998.
[0010370]958.Szumlanski, C.; Otterness, D.; Her, C.; Lee, D.; Brandriff, B.; Kelsell, D.; Spurr, N.; Lennard, L.; Wieben, E.; Weinshilboum, R. : Thiopurine methyltransferase pharmacogenetics: human gene cloning and characterization of a common polymorphism. DNA Cell Biol. 15: 17-30, 1996.
[0010371]959.Tai, H.-L.; Krynetski, E. Y.; Schuetz, E. G.; Yanishevski, Y.; Evans, W. E.: Enhanced proteolysis of thiopurine S-methyltransferase (TPMT) encoded by mutant alleles in humans (TPMT*3A, TPMT*2): mechanisms for the genetic polymorphism of TPMT activity. Proc. Nat. Acad. Sci. 94: 6444-6449, 1997.
[0010372]960.Tai, H.-L.; Krynetski, E. Y.; Yates, C. R.; Loennechen, T.; Fessing, M. Y.; Krynetskaia, N. F.; Evans, W. E.: Thiopurine S-methyltransferase deficiency: two nucleotide transitions define the most prevalent mutant allele associated with loss of catalytic activity in Caucasians. Am. J. Hum. Genet. 58: 694-702, 1996.
[0010373]961.Weinshilboum, R. M.; Sladek, S. L.: Mercaptopurine pharmacogenetics: monogenic inheritance of erythrocyte thiopurine methyltransferase activity. Am. J. Hum. Genet. 32: 651-662, 1980.
[0010374]962.Heppell-Parton, A.; Cahn, A.; Bench, A.; Lowe, N.; Lehrach, H.; Zehetner, G.; Rabbitts, P.: Thioredoxin, a mediator of growth inhibition, maps to 9q31. Genomics 26: 379-381, 1995.
[0010375]963.Kaghad, M.; Dessarps, F.; Jacquemin-Sablon, H.; Caput, D.; Fradelizi, D.; Wollman, E. E.: Genomic cloning of human thioredoxin-encoding gene: mapping of the transcription start point and analysis of the promoter. Gene 140: 273-278, 1994.
[0010376]964.Cook, P. J. L.; Robson, E. B.; Buckton, K. E.; Jacobs, P. A.; Polani, P. E.: Segregation of genetic markers in families with chromosome polymorphisms and structural rearrangements involving chromosome 1. Ann. Hum. Genet. 37: 261-274, 1974.
[0010377]965.Herbich, J.; Szilvassy, J.; Schnedl, W.: Gene localisation of the PGM-1 enzyme system and the Duffy blood groups on chromosome no. 1 by means of a new fragile site at 1p31. Hum. Genet. 70: 178-180, 1985.
[0010378]966.Bost, K. L.; Smith, E. M.; Blalock, J. E.: Regions of complementarity between the messenger RNAs for epidermal growth factor, transferrin, interleukin-2 and their respective receptors. Biochem. Biophys. Res. Commun. 128: 1373-1380, 1985.
[0010379]967.Bowman, B. H.; Yang, F.; Adrian, G. S.: Transferrin: evolution and genetic regulation of expression. Adv. Genet. 25: 1-38, 1988.
[0010380]968.Dayhoff, M. O.: Atlas of Protein Sequence and Structure. Transferrin. Washington: National Biomedical Research Foundation (pub.) 5: 1972. Pp. D310 only.
[0010381]969.Evans, R. W.: Personal Communication. London, England 5/29/1987.
[0010382]970.Evans, R. W.; Williams, J.; Moreton, K.: A variant of human transferrin with abnormal properties. Biochem. J. 201: 19-26, 1982.
[0010383]971.Giari, A.; Weidinger, S.; Domenici, R.; Bargagna, M.: Transferrin variants in Tuscany (Italy): evidence for two 'new' Tf alleles. Hum. Genet. 69: 284-286, 1985.
[0010384]972.Goya, N.; Miyazaki, S.; Kodate, S.; Ushio, B.: A family of congenital atransferrinemia. Blood 40: 239-245, 1972.
[0010385]973.Hayashi, A.; Wada, Y.; Suzuki, T.; Shimizu, A.: Studies on familial hypotransferrinemia: unique clinical course and molecular pathology. Am. J. Hum. Genet. 53: 201-213, 1993.
[0010386]974.Huerre, C.; Uzan, G.; Grzeschik, K. H.; Weil, D.; Levin, M.; Hors-Cayla, M.-C.; Boue, J.; Kahn, A.; Junien, C.: The structural gene for transferrin (TF) maps to 3q21-3qter. Ann. Genet. 27: 5-10, 1984.
[0010387]975.Jenkins, T.; Bothwell, T. H.; Maier, G.; Laidler, A.: Is transferrin normal in idiopathic haemochromatosis? Brit. J. Haemat. 52: 493-495, 1982.
[0010388]976.Kamboh, M. I.; Ferrell, R. E.: Human transferrin polymorphism. Hum. Hered. 37: 65-81, 1987.
[0010389]977.King, J.; Robson, E. B.; Edwards, V. H.; Cook, P. J. L.; Buckton, K. E.: Miscellaneous contributions to the mapping of chromosome 1. (Abstract) Cytogenet. Cell Genet. 25: 172 only, 1979.
[0010390]978.Kueppers, F.; Harpel, B. M.: Transferrin C subtypes in US blacks and whites. Hum. Hered. 30: 376-382, 1980.
[0010391]979.Lee, P. L.; Halloran, C.; Trevino, R.; Felitti, V.; Beutler, E. : Human transferrin G277S mutation: a risk factor for iron deficiency anaemia. Brit. J. Haemat. 115: 329-333, 2001.
[0010392]980.MacGillivray, R. T. A.; Mendez, E.; Sinha, S. K.; Sutton, M. R.; Lineback-Zins, J.; Brew, K.: The complete amino acid sequence of human serum transferrin. Proc. Nat. Acad. Sci. 79: 2504-2508, 1982.
[0010393]981.McAlpine, P. J.; Allderdice, P. W.; Cox, D. W.; Simpson, N. E.; McEachran, M.; Komarnicki, L.: The ordering of TF:CHE1:AHSG and their orientation distal to 3q21. (Abstract) Cytogenet. Cell Genet. 46: 659 only, 1987.
[0010394]982.Namekata, K.; Oyama, F.; Imagawa, M.; Ihara, Y.: Human transferrin (Tf): a single mutation at codon 570 determines Tf C1 or Tf C2 variant. Hum. Genet. 100: 457-458, 1997.
[0010395]983.Naylor, S. L.; Lalley, P. A.; Elliott, R. W.; Brown, J. A.; Shows, T. B.: Evidence for homologous regions of human chromosome 3 and mouse chromosome 9 predicts location of human genes. (Abstract) Am. J. Hum. Genet. 32: 158A only, 1980.
[0010396]984.Pang, H.; Koda, Y.; Soejima, M.; Kimura, H.: Identification of a mutation (A1879G) of transferrin from cDNA prepared from peripheral blood cells. Ann. Hum. Genet. 62: 271-274, 1998.
[0010397]985.Park, I.; Schaeffer, E.; Sidoli, A.; Baralle, F. E.; Cohen, G. N.; Zakin, M. M.: Organization of the human transferrin gene: direct evidence that it originated by gene duplication. Proc. Nat. Acad. Sci. 82: 3149-3153, 1985.
[0010398]986.Parker, W. C.; Bearn, A. G.: Additional genetic variation of human serum transferrin. Science 137: 854-856, 1962.
[0010399]987.Robson, E. B.; Sutherland, I.; Harris, H.: Evidence for linkage between the transferrin locus (TF) and the serum cholinesterase locus E(1) in man. Ann. Hum. Genet. 29: 325-336, 1966.
[0010400]988.Sass-Kuhn, S. P.; Moqbel, R.; Mackay, J. A.; Cromwell, O.; Kay, A. B.: Human granulocyte/pollen-binding protein: recognition and identification as transferrin. J. Clin. Invest. 73: 202-210, 1984.
[0010401]989.Smithies, O.: Variants in human serum B-globulins. Nature 180: 1482 only, 1957.
[0010402]990.Smithies, O.: Third allele at the serum beta-globulin locus in humans. Nature 181: 1203-1204, 1958.
[0010403]991.Sutherland, R.; Delia, D.; Schneider, C.; Newman, R.; Kemshead, J.; Greaves, M.: Ubiquitous cell-surface glycoprotein on tumor cells is proliferation-associated receptor for transferrin. Proc. Nat. Acad. Sci. 78: 4515-4519, 1981.
[0010404]992.Uzan, G.; Frain, M.; Park, I.; Besmond, C.; Maessen, G.; Trepat, J. S.; Zakin, M. M.; Kahn, A.: Molecular cloning and sequence analysis of cDNA for human transferrin. Biochem. Biophys. Res. Commun. 119: 273-281, 1984.
[0010405]993.Wang, A.-C.; Sutton, H. E.: Human transferrins C and D(1): chemical difference in a peptide. Science 149: 435-437, 1965.
[0010406]994.Wang, A.-C.; Sutton, H. E.; Howard, P. N.: Human transferrins C and D(Chi): an aminoacid difference. Biochem. Genet. 1: 55-60, 1967.
[0010407]995.Wang, A.-C.; Sutton, H. E.; Riggs, A.: A chemical difference between human transferrins B2 and C. Am. J. Hum. Genet. 18: 454-458, 1966.
[0010408]996.Welch, S.; Langmead, L.: A comparison of the structure and properties of normal human transferrin and a genetic variant of human transferrin. Int. J. Biochem. 22: 275-282, 1990.
[0010409]997.Yang, F.; Lum, J. B.; McGill, J. R.; Moore, C. M.; Naylor, S. L.; van Bragt, P. H.; Baldwin, W. D.; Bowman, B. H.: Human transferrin: cDNA characterization and chromosomal localization. Proc. Nat. Acad. Sci. 81: 2752-2756, 1984.
[0010410]998.Huebner, K.; Druck, T.; LaForgia, S.; Lasota, J.; Croce, C. M.; Lanfrancone, L.; Donti, E.; Pengue, G.; La Mantia, G.; Pelicci, P.-G.; Lania, L.: Chromosomal localization of four human zinc finger cDNAs. Hum. Genet. 91: 217-222, 1993.
[0010411]999.Batlle, E.; Sancho, E.; Franci, C.; Dominguez, D.; Monfar, M.; Baulida, J.; Garcia de Herreros, A.: The transition factor Snail is a repressor of E-cadherin gene expression in epithelial tumour cells. Nature Cell Biol. 2: 84-89, 2000.
[0010412]1000.Becker, K.-F.; Atkinson, M. J.; Reich, U.; Becker, I.; Nekarda, H.; Siewert, J. R.; Hoefler, H.: E-Cadherin gene mutations provide clues to diffuse type gastric carcinomas. Cancer Res. 54: 3845-3852, 1994.
[0010413]1001.Erbe, R. W.: Cabot case. New Eng. J. Med. 298: 95-101, 1978.
[0010414]1002.Feldman, D. E.; Thulasiraman, V.; Ferreyra, R. G.; Frydman, J. : Formation of the VHLelongin BC tumor suppressor complex is mediated by the chaperonin TRiC. Molec. Cell 1051-1061, 1999.
[0010415]1003.Fill, W. L.; Lamiell, J. M.; Polk, N. O.: The radiographic manifestations of von Hippel-Lindau disease. Radiology 133: 289-295, 1979.
[0010416]1004.Fishman, R. S.; Bartholomew, L. G.: Severe pancreatic involvement in three generations in von Hippel-Lindau disease. Mayo Clin. Proc. 54: 329-331, 1979.
[0010417]1005.Friedrich, C. A.: Genotype/phenotype correlation in von Hippel-Lindau syndrome. Hum. Molec. Genet. 10: 763-767, 2001.
[0010418]1006.Fukino, K.; Teramoto, A.; Adachi, K.; Takahashi, H.; Emi, M.: A family with hydrocephalus as a complication of cerebellar hemangioblastoma: identification of pro157leu mutation in the VHL gene. J. Hum. Genet. 45: 47-51, 2000.
[0010419]1007.Fulton, J. F.: Harvey Cushing: A Biography. Springfield, Illinois: Charles C Thomas (pub.) 1946.
[0010420]1008.Funk, K. C.; Heiken, J. P.: Papillary cystadenoma of the broad ligament in a patient with von Hippel-Lindau disease. Am. J. Radiol. 153: 527-528, 1989.
[0010421]1009.Gaffey, M. J.; Mills, S. E.; Boyd, J. C.: Aggressive papillary tumor of middle ear/temporal bone and adnexal papillary cystadenoma. Am. J. Surg. Path. 18: 1254-1260, 1994.
[0010422]1010.Gallou, C.; Joly, D.; Mejean, A.; Staroz, F.; Martin, N.; Tarlet, G.; Orfanelli, M. T.; Bouvier, R.; Droz, D.; Chretien, Y.; Marechal, J. M.; Richard, S.; Junien, C.; Beroud, C.: Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC. Hum. Mutat. 13: 464-475, 1999.
[0010423]1011.Garcia, A.; Matias-Guiu, X.; Cabezas, R.; Chico, A.; Prat, J.; Baiget, M.; De Leiva, A.: Molecular diagnosis of von Hippel-Lindau disease in a kindred with a predominance of familial phaeochromocytoma. Clin. Endocr. 46: 359-363, 1997.
[0010424]1012.Gemmill, R. M.; Bemis, L. T.; Lee, J. P.; Sozen, M. A.; Baron, A.; Zeng, C.; Erickson, P. F.; Hooper, J. E.; Drabkin, H. A.: The TRC8 hereditary kidney cancer gene suppresses growth and functions with VHL in a common pathway. Oncogene 21: 3507-3516, 2002.
[0010425]1013.Gersell, D. J.; King, T. C.: Papillary cystadenoma of the mesosalpinx in von Hippel-Lindau disease. Am. J. Surg. Path. 12: 145-149, 1988.
[0010426]1014.Gilcrease, M. Z.; Schmidt, L.; Zbar, B.; Truong, L.; Rutledge, M.; Wheeler, T. M.: Somatic von Hippel-Lindau mutation in clear cell papillary cystadenoma of the epididymis. Hum. Path. 26: 1341-1346, 1995.
[0010427]1015.Glenn, G. M.; Daniel, L. N.; Choyke, P.; Linehan, W. M.; Oldfield, E.; Gorin, M. B.; Hosoe, S.; Latif, F.; Weiss, G.; Walther, M.; Lerman, M. I.; Zbar, B.: Von Hippel-Lindau (VHL) disease: distinct phenotypes suggest more than one mutant allele at the VHL locus. Hum. Genet. 87: 207-210, 1991.
[0010428]1016.Glenn, G. M.; Linehan, W. M.; Hosoe, S.; Latif, F.; Yao, M.; Choyke, P.; Gorin, M. B.; Chew, E.; Oldfield, E.; Manolatos, C.; Orcutt, M. L.; Walther, M. M.; Weiss, G. H.; Tory, K.; Jensson, O.; Lerman, M. I.; Zbar, B.: Screening for von Hippel-Lindau disease by DNA polymorphism analysis. J.A.M.A. 267: 1226-1231, 1992.
[0010429]1017.Gnarra, J. R.; Ward, J. M.; Porter, F. D.; Wagner, J. R.; Devor, D. E.; Grinberg, A.; Emmert-Buck, M. R.; Westphal, H.; Klausner, R. D.; Marston Linehan, W.: Defective placental vasculogenesis causes embryonic lethality in VHL-deficient mice. Proc. Nat. Acad. Sci. 94: 9102-9107, 1997.
[0010430]1018.Go, R. C. P.; Lamiell, J. M.; Hsia, Y. E.; Yuen, J. W.-M.; Paik, Y.: Segregation and linkage analyses of von Hippel Lindau disease among 220 descendants from one kindred. Am. J. Hum. Genet. 36: 131-142, 1984.
[0010431]1019.Goldberg, M. F.; Duke, J. R.: Von Hippel-Lindau disease: histopathologic findings in a treated and untreated eye. Am. J. Ophthal. 66: 693-705, 1968.
[0010432]1020.Graff, J. W.: Personal Communication. Brookline, Mass. 10/4/1998.
[0010433]1021.Green, J. S.; Bowmer, M. I.; Johnson, G. J.: Von Hippel-Lindau disease in a Newfoundland kindred. Canad. Med. Assoc. J. 134: 133-138 and 146, 1986.
[0010434]1022.Gross, D. J.; Avishai, N.; Meiner, V.; Filon, D.; Zbar, B.; Abeliovich, D.: Familial pheochromocytoma associated with a novel mutation in the von Hippel-Lindau gene. J. Clin. Endocr. Metab. 81: 147-149, 1996.
[0010435]1023.Grossman, M.; Melmon, K. L.: Von Hippel-Lindau disease.In: Vinken, P. J.; Bruyn, G. W.: Handbook of Clinical Neurology. The Phakomatoses. Amsterdam: North Holland (pub.) 14: 1972. Pp. 241-259.
[0010436]1024.Haase, V. H.; Glickman, J. N.; Socolovsky, M.; Jaenisch, R.: Vascular tumors in livers with targeted inactivation of the von Hippel-Lindau tumor suppressor. Proc. Nat. Acad. Sci. 98: 1583-1588, 2001.
[0010437]1025.Hagler, W. S.; Hyman, B. N.; Waters, W. C., III: Von Hippel's angiomatosis retinae and pheochromocytoma. Trans. Am. Acad. Ophthal. Otolaryng. 75: 1022-1034, 1971.
[0010438]1026.Hennessy, T. G.; Stern, W. E.; Herrick, S. E.: Cerebellar hemangioblastoma: erythropoietic activity by radioion assay. J. Nucl. Med. 8: 601-606, 1967.
[0010439]1027.Herman, J. G.; Latif, F.; Weng, Y.; Lerman, M. I.; Zbar, B.; Liu, S.; Samid, D.; Duan, D.-S. R.; Guarra, J. R.; Linehan, W. M.; Baylin, S. B.: Silencing of the VHL tumor-suppressor gene by DNA methylation in renal carcinomas. Proc. Nat. Acad. Sci. 91: 9700-9704, 1994.
[0010440]1028.Hes, F.; Zewald, R.; Peeters, T.; Sijmons, R.; Links, T.; Verheij, J.; Matthijs, G.; Legius, E.; Mortier, G.; van der Torren, K.; Rosman, M.; Lips, C.; Pearson, P.; van der Luijt, R.: Genotypephenotype correlations in families with deletions in the von Hippel-Lindau (VHL) gene. Hum. Genet. 106: 425-431, 2000.
[0010441]1029.Hes, F. J.; McKee, S.; Taphoorn, M. J. B.; Rehal, P.; van der Luijt, R. B.; McMahon, R.; van der Smagt, J. J.; Dow, D.; Zewald, R. A.; Whittaker, J.; Lips, C. J. M.; MacDonald, F.; Pearson, P. L.; Maher, E. R.: Cryptic von Hippel-Lindau disease: germline mutations in patients with haemangioblastoma only. J. Med. Genet. 37: 939-943, 2000.
[0010442]1030.Hoffman, M. A.; Ohh, M.; Yang, H. Kico, J. M.; Ivan, M.; Kaelin, W. G., Jr.: von Hippel-Lindau, protein mutants linked to type 2C VHL disease preserve the ability to downregulated HIF. Hum. Molec. Genet. 10: 1019-1027, 2001.
[0010443]1031.Whitmore, S. A.; Apostolou, S.; Lane, S.; Nancarrow, J. K.; Phillips, H. A.; Richards, R. I.; Sutherland, G. R.; Callen, D. F.: Isolation and characterization of transcribed sequences from a chromosome 16 hn-cDNA library and the physical mapping of genes and transcribed sequences using a high-resolution somatic cell panel of human chromosome 16. Genomics 20: 169-175, 1994.
[0010444]1032.Bashan, N.; Iancu, T. C.; Lerner, A.; Fraser, D.; Potashnik, R.; Moses, S. W.: Glycogenosis due to liver and muscle phosphorylase kinase deficiency. Pediat. Res. 15: 299-303, 1981.
[0010445]1033.Burwinkel, B.; Maichele, A. J.; Aagenaes, O.; Bakker, H. D.; Lerner, A.; Shin, Y. S.; Strachan, J. A.; Kilimann, M. W.: Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB). Hum. Molec. Genet. 6: 1109-1115, 1997.
[0010446]1034.Burwinkel, B.; Moses, S. W.; Kilimann, M. W.: Phosphorylase-kinase-deficient liver glycogenosis with an unusual biochemical phenotype in blood cells associated with a missense mutation in the beta subunit gene (PHKB). Hum. Genet. 101: 170-174, 1997.
[0010447]1035.Francke, U.; Darras, B. T.; Zander, N. F.; Kilimann, M. W.: Assignment of human genes for phosphorylase kinase subunits alpha (PHKA) to Xq12-q13 and beta (PHKB) to 16q12-q13. Am. J. Hum. Genet. 45: 276-282, 1989.
[0010448]1036.Kilimann, M. W.; Zander, N. F.; Kuhn, C. C.; Crabb, J. W.; Meyer, H. E.; Heilmeyer, L. M. G., Jr.: The alpha and beta subunits of phosphorylase kinase are homologous: cDNA cloning and primary structure of the beta subunit. Proc. Nat. Acad. Sci. 85: 9381-9385, 1988.
[0010449]1037.Lederer, B.; Van Hoof, F.; Van den Berghe, G.; Hers, H. G.: Glycogen phosphorylase and its converter enzymes in haemolysates of normal human subjects and of patients with type VI glycogen storage disease: a study of phosphorylase kinase deficiency. Biochem. J. 147: 23-35, 1975.
[0010450]1038.Wullrich-Schmoll, A.; Kilimann, M. W.: Structure of the human gene encoding the phosphorylase kinase beta subunit (PHKB). Europ. J. Biochem. 238: 374-380, 1996.
[0010451]1039.Zander, N. F.; Meyer, H. E.; Hoffmann-Posorske, E.; Crabb, J. W.; Heilmeyer, L. M. G., Jr.; Kilimann, M. W.: cDNA cloning and complete primary structure of skeletal muscle phosphorylase kinase (alpha subunit). Proc. Nat. Acad. Sci. 85: 2929-2933, 1988.
[0010452]1040.Rocchi, M.; Archidiacono, N.; Romeo, G.; Saginati, M.; Zardi, L. : Assignment of the gene for human tenascin to the region q32-q34 of chromosome 9. Hum. Genet. 86: 621-623, 1991.
[0010453]1041.Steindler, D. A.; Settles, D.; Erickson, H. P.; Laywell, E. D.; Yoshiki, A.; Faissner, A.; Kusakabe, M.: Tenascin knockout mice: barrels, boundary molecules, and glial scars. J. Neurosci. 15: 1971-1983, 1995.
[0010454]1042.Bamford, R. N.; Roessler, E.; Burdine, R. D.; Saplakoglu, U.; dela Cruz, J.; Splitt, M.; Towbin, J.; Bowers, P.; Marino, B.; Schier, A. F.; Shen, M. M.; Muenke, M.; Casey, B.: Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects. Nature Genet. 26: 365-369, 2000.
[0010455]1043.Ciccodicola, A.; Dono, R.; Obici, S.; Simeone, A.; Zollo, M.; Persico, M. G.: Molecular characterization of a gene of the 'EGF family' expressed in undifferentiated human NTERA2 teratocarcinoma cells. EMBO J. 8: 1987-1991, 1989.
[0010456]1044.de la Cruz, J. M.; Bamford, R. N.; Burdine, R. D.; Roessler, E.; Barkovich, A. J.; Donnai, D.; Schier, A. F.; Muenke, M.: A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects. Hum. Genet. 110: 422-428, 2002.
[0010457]1045.Dono, R.; Montuori, N.; Rocchi, M.; De Ponti-Zilli, L.; Ciccodicola, A.; Persico, M. G.: Isolation and characterization of the CRIPTO autosomal gene and its X-linked related sequence. Am. J. Hum. Genet. 49: 555-565, 1991.
[0010458]1046.Liguori, G.; De Gregorio, L.; Tucci, M.; Lago, C. T.; Barra, A.; Dragani, T. A.; Persico, M.: Mapping of the mouse Tdgf1 gene and Tdgf pseudogenes. Mammalian Genome 8: 502-505, 1997.
[0010459]1047.Liguori, G.; Tucci, M.; Montuori, N.; Dono, R.; Lago, C. T.; Pacifico, F.; Armenante, F.; Persico, M. G.: Characterization of the mouse Tdgf1 gene and Tdgf pseudogenes. Mammalian Genome 7: 344-348, 1996.
[0010460]1048.Saccone, S.; Rapisarda, A.; Motta, S.; Dono, R.; Persico, G. M.; Della Valle, G.: Regional localization of the human EGF-like growth factor CRIPTO gene (TDGF-1) to chromosome 3p21. Hum. Genet. 95: 229-230, 1995.
[0010461]1049.Shen, M. M.; Schier, A. F.: The EGF-CFC gene family in vertebrate development. Trends Genet. 16: 303-309, 2000.
[0010462]1050.Chang, L. M. S.; Bollum, F. J.: Molecular biology of terminal transferase. CRC Crit. Rev. Biochem. 21: 27-52, 1986.
[0010463]1051.Epplen, J. T.; Chluba, J.; Hardt, C.; Hinkkanen, A.; Steimle, V.; Stockinger, H.: Mammalian T-lymphocyte antigen receptor genes: genetic and nongenetic potential to generate variability. Hum. Genet. 75: 300-310, 1987.
[0010464]1052.Isobe, M.; Huebner, K.; Erikson, J.; Peterson, R. C.; Bollum, F. J.; Chang, L. M. S.; Croce, C. M.: Chromosome localization of the gene for human terminal deoxynucleotidyltransferase to region 10q23-q25. Proc. Nat. Acad. Sci. 82: 5836-5840, 1985.
[0010465]1053.Landau, N. R.; St. John, T. P.; Weissman, I. L.; Wolf, S. C.; Silverstone, A. E.; Baltimore, D.: Cloning of terminal transferase cDNA by antibody screening. Proc. Nat. Acad. Sci. 81: 5836-5840, 1984.
[0010466]1054.Riley, L. K.; Morrow, J. K.; Danton, M. J.; Coleman, M. S.: Human terminal deoxyribonucleotidyltransferase: molecular cloning and structural analysis of the gene and 5-prime flanking region. Proc. Nat. Acad. Sci. 85: 2489-2493, 1988.
[0010467]1055.Thai, T.-H.; Purugganan, M. M.; Roth, D. B.; Kearney, J. F.: Distinct and opposite diversifying activities of terminal transferase splice variants. Nature Immun. 3: 457-462, 2002.
[0010468]1056.Yang-Feng, T. L.; Landau, N. R.; Baltimore, D.; Francke, U.: The terminal deoxynucleotidyltransferase gene is located on human chromosome 10 (10q23-q24) and on mouse chromosome 19. Cytogenet. Cell Genet. 43: 121-126, 1986.
[0010469]1057.Kasahara, M.; Figueroa, F.; Klein, J.: Random cloning of genes from mouse chromosome 17. Proc. Nat. Acad. Sci. 84: 3325-3328, 1987.
[0010470]1058.Kasahara, M.; Gutknecht, J.; Brew, K.; Spurr, N.; Goodfellow, P. N.: Cloning and mapping of a testis-specific gene with sequence similarity to a sperm-coating glycoprotein gene. Genomics 5: 527-534, 1989.
[0010471]1059.Kasahara, M.; Passmore, H. C.; Klein, J.: A testis-specific gene Tpx-1 maps between Pgk-2 and Mep-1 on mouse chromosome 17. Immunogenetics 29: 61-63, 1989.
[0010472]1060.Gonzatti-Haces, M.; Seth, A.; Park, M.; Copeland, T.; Oroszlan, S.; Vande Woude, G. F.: Characterization of the TPR-MET oncogene p65 and the MET protooncogene p140 protein-tyrosine kinases. Proc. Nat. Acad. Sci. 85: 21-25, 1988.
[0010473]1061.Miranda, C.; Minoletti, F.; Greco, A.; Sozzi, G.; Pierotti, M. A.: Refined localization of the human TPR gene to chromosome 1q25 by in situ hybridization. Genomics 23: 714-715, 1994.
[0010474]1062.Cao, Z.; Umek, R. M.; McKnight, S. L.: Regulated expression of three C/EBP isoforms during adipose conversion of 3T3-L1 cells. Genes Dev. 5: 1538-1552, 1991.
[0010475]1063.Descombes, P.; Chojkier, M.; Lichtsteiner, S.; Falvey, E.; Schibler, U.: LAP, a novel member of the C/EBP gene family, encodes a liver-enriched transcriptional activator protein. Genes Dev. 4: 1541-1551, 1990.
[0010476]1064.Hendricks-Taylor, L. R.; Bachinski, L. L.; Siciliano, M. J.; Fertitta, A.; Trask, B.; de Jong, P. J.; Ledbetter, D. H.; Darlington, G. J. : The CCAAT/enhancer binding protein (C/EBP-alpha) gene (CEBPA) maps to human chromosome 19q13.1 and the related nuclear factor NF-IL6 (C/EBP-beta) gene (CEBPB) maps to human chromosome 20q13.1. Genomics 14: 12-17, 1992.
[0010477]1065.Jenkins, N. A.; Gilbert, D. J.; Cho, B. C.; Strobel, M. C.; Williams, S. C.; Copeland, N. G.; Johnson, P. F.: Mouse chromosomal location of the CCAAT/enhancer binding proteins C/EBP-beta (Cebpb), C/EBP-delta (Cebpd), and CRP1 (Cebpe). Genomics 28: 333-336, 1995.
[0010478]1066.Chang, M.-L.; Artymiuk, P. J.; Wu, X.; Hollan, S.; Lammi, A.; Maquat, L. E.: Human triosephosphate isomerase deficiency resulting from mutation of phe-240. Am. J. Hum. Genet. 52: 1260-1269, 1993.
[0010479]1067.Burchell, B.: Personal Communication. Dundee, Scotland 12/1991.
[0010480]1068.Young, S. P.; Bomford, A.; Madden, A. D.; Garratt, R. C.; Williams, R.; Evans, R. W.: Abnormal in vitro function of a variant human transferrin. Brit. J. Haemat. 56: 581-587, 1984.
[0010481]1069.Burchell, B.; Nebert, D. W.; Nelson, D. R.; Bock, K. W.; Iyanagi, T.; Jansen, P. L. M.; Lancet, D.; Mulder, G. J.; Roy Chowdhury, J.; Siest, G.; Tephly, T. R.; Mackenzie, P. I.: The UDP glucuronosyltransferase gene superfamily: suggested nomenclature based on evolutionary divergence. DNA Cell Biol. 10: 487-494, 1991.
[0010482]1070.Erps, L. T.; Ritter, J. K.; Hersh, J. H.; Blossom, D.; Martin, N. C.; Owens, I. S.: Identification of two single base substitutions in the UGT1 gene locus which abolish bilirubin uridine diphosphate glucuronosyltransferase activity in vitro. J. Clin. Invest. 93: 564-570, 1994.
[0010483]1071.Findlay, K. A. B.; Kaptein, E.; Visser, T. J.; Burchell, B.: Characterization of the uridine diphosphate-glucuronosyltransferase-catalyzing thyroid hormone glucuronidation in man. J. Clin. Endocr. Metab. 85: 2879-2883, 2000.
[0010484]1072.Francoual, J.; Rivierre, A.; Mokrani, C.; Khrouf, N.; Gottrand, F.; Myara, A.; Le Bihan, B.; Capel, L.; Lindenbaum, A.; Labrune, P. : Crigler-Najjar syndrome type I in Tunisia may be associated with a founder effect related to the Q357R mutation within the UGT1 gene. Hum. Mutat. 19: 570-571, 2002.
[0010485]1073.Galanello, R.; Perseu, L.; Melis, M. A.; Cipollina, L.; Barella, S.; Giagu, N.; Turco, M. P.; Maccioni, O.; Cao, A.: Hyperbilirubinaemia in heterozygous beta-thalassaemia is related to coinherited Gilbert's syndrome. Brit. J. Haemat. 99: 433-436, 1997.
[0010486]1074.Gantla, S.; Bakker, C. T. M.; Deocharan, B.; Thummala, N. R.; Zweiner, J.; Sinaasappel, M.; Roy Chowdhury, J.; Bosma, P. J.; Roy Chowdhury, N.: Splice-site mutations: a novel genetic mechanism of Crigler-Najjar syndrome type 1. Am. J. Hum. Genet. 62: 585-592, 1998.
[0010487]1075.Gollan, J. L.; Huang, S. N.; Billing, B.; Sherlock, S.: Prolonged survival in three brothers with severe type 2 Crigler-Najjar syndrome: ultrastructural and metabolic studies. Gastroenterology 68: 1543-1555, 1975.
[0010488]1076.Gong, Q.-H.; Cho, J. W.; Huang, T.; Potter, C.; Gholami, N.; Basu, N. K.; Kubota, S.; Carvalho, S.; Pennington, M. W.; Owens, I. S.; Popescu, N. C.: Thirteen UDP-glucuronosyltransferase genes are encoded at the human UGT1 gene complex locus. Pharmacogenetics 11: 357-368, 2001.
[0010489]1077.Hagiwara, H.; Takeda, K.; Ikeda, H.; Nakai, H.; Burchell, B.: Gene mapping of human bilirubin UDP-glucuronosyl transferase on 1q21-q23 by a cell sorter and in situ hybridization. Jpn. J. Hum. Genet. 36: 189-194, 1991.
[0010490]1078.Harding, D.; Fournel-Gigleux, S.; Jackson, M. R.; Burchell, B. : Cloning and substrate specificity of a human phenol UDP-glucuronosyltransferase expressed in COS-7 cells. Proc. Nat. Acad. Sci. 85: 8381-8385, 1988.
[0010491]1079.Harding, D.; Jeremiah, S. J.; Povey, S.; Burchell, B.: Chromosomal mapping of a human phenol UDP-glucuronosyltransferase, GNT1. Ann. Hum. Genet. 54: 17-21, 1990.
[0010492]1080.Harding, D.; Jeremiah, S. J.; Povey, S.; Burchell, B.: Phenol UDPglucuronosyltransferase is coded by a gene on human chromosome 2. (Abstract) Cytogenet. Cell Genet. 51: 1011, 1989.
[0010493]1081.Iolascon, A.; Faienza, M. F.; Moretti, A.; Perrotta, S.; Miraglia del Giudice, E.: UGT1 promoter polymorphism accounts for increased neonatal appearance of hereditary spherocytosis.(Letter) Blood 91: 1093 only, 1998.
[0010494]1082.Iyer, L.; King, C. D.; Whitington, P. F.; Green, M. D.; Roy, S. K.; Tephly, T. R.; Coffman, B. L.; Ratain, M. J.: Genetic predisposition to the metabolism of irinotecan (CPT-11): role of uridine diphosphate glucuronosyltransferase isoform 1A1 in the glucuronidation of its active metabolite (SN-38) in human liver microsomes. J. Clin. Invest. 101: 847-854, 1998.
[0010495]1083.Jackson, M. R.; McCarthy, L. R.; Harding, D.; Wilson, S.; Coughtrie, M. W. H.; Burchell, B.: Cloning of a human liver microsomal UDP-glucuronosyltransferase cDNA. Biochem. J. 242: 581-588, 1987.
[0010496]1084.Jansen, P. L. M.; Mulder, G. J.; Burchell, B.; Bock, K. W.: New developments in glucuronidation research: report of a workshop on 'glucuronidation, its role in health and disease.'. Hepatology 15: 532-544, 1992.
[0010497]1085.Kadakol, A.; Ghosh, S. S.; Sappal, B. S.; Sharma, G.; Roy Chowdhury, J.; Roy Chowdhury, N.: Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype. Hum. Mutat. 16: 297-306, 2000.
[0010498]1086.Kadakol, A.; Sappal, B. S.; Ghosh, S. S.; Lowenheim, M.; Chowdhury, A.; Chowdhury, S.; Santra, A.; Arias, I. M.; Chowdhury, J. R.; Chowdhury, N. R.: Interaction of coding region mutations and the Gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinaemia and may lead to neonatal kernicterus. (Letter) J. Med. Genet. 38: 244-249, 2001.
[0010499]1087.Kaplan, M.; Hammerman, C.; Renbaum, P.; Klein, G.; Levy-Lahad, E.: Gilbert's syndrome and hyperbilirubinaemia in ABO-incompatible neonates. Lancet 356: 652-653, 2000.
[0010500]1088.Kaplan, M.; Renbaum, P.; Levy-Lahad, E.; Hammerman, C.; Lahad, A. Beutler, E.: Gilbert syndrome and glucose-6-phosphate dehydrogenase deficiency: a dose-dependent genetic interaction crucial to neonatal hyperbilirubinemia. Proc. Nat. Acad. Sci. 94: 12128-12132, 1997.
[0010501]1089.Kimura, T.; Akaba, K.; Ikegami, T.; Akiba, K.; Kanazawa, C.; Katsuura, M.; Shimizu, Y.; Imaizumi, M.; Lin, C.; Hayasaka, K.: Intermittent jaundice in patients with acute leukaemia: a common mutation of the bilirubin uridine-diphosphate glucuronosyltransferase gene among Asians. J. Inherit. Metab. Dis. 22: 747-753, 1999.
[0010502]1090.King, C. D.; Rios, G. R.; Tephly, T. R.: UDP-glucuronosyltransferases. Curr. Drug Metab. 1: 143-161, 2000.
[0010503]1091.Kren, B. T.; Parashar, B.; Bandyopadhyay, P.; Chowdhury, N. R.; Chowdhury, J. R.; Steer, C. J.: Correction of the UDP-glucuronosyltransferase gene defect in the Gunn rat model of Crigler-Najjar syndrome type I with a chimeric oligonucleotide. Proc. Nat. Acad. Sci. 96: 10349-10354, 1999.
[0010504]1092.Mackenzie, P. I.: The cDNA sequence and expression of a variant 17-betahydroxysteroid UDP-glucuronosyltransferase. J. Biol. Chem. 265: 8699-8703, 1990.
[0010505]1093.Clay, S. A.; Shore, N. A.; Landing, B. H.: Triosephosphate isomerase deficiency: a case report with neuropathological findings. Am. J. Dis. Child. 136: 800-802, 1982.
[0010506]1094.Daar, I. O.; Artymiuk, P. J.; Phillips, D. C.; Maquat, L. E.: Human triose-phosphate isomerase deficiency: a single amino acid substitution results in a thermolabile enzyme. Proc. Nat. Acad. Sci. 83: 7903-7907, 1986.
[0010507]1095.Decker, R. S.; Mohrenweiser, H. W.: Origin of the triosephosphate isomerase isozymes in humans: genetic evidence for the expression of a single structural locus. Hum. Genet. 33: 683-691, 1981.
[0010508]1096.Eber, S. W.; Dunnwald, M.; Belohradsky, B. H.; Bidlingmaier, F.; Schievelbein, H.; Weinmann, H. M.; Krietsch, W. K. G.: Hereditary deficiency of triosephosphate isomerase in four unrelated families. Europ. J. Clin. Invest. 9: 195-202, 1979.
[0010509]1097.Eber, S. W.; Dunnwald, M.; Heinemann, G.; Hofstatter, T.; Weinmann, H. M.; Belohradsky, B. H.: Prevalence of partial deficiency of red cell triosephosphate isomerase in Germany--a study of 3000 people. Hum. Genet. 67: 336-339, 1984.
[0010510]1098.Eber, S. W.; Pekrun, A.; Bardosi, A.; Gahr, M.; Krietsch, W. K. G.; Kruger, J.; Matthei, R.; Schroter, W.: Triosephosphate isomerase deficiency: haemolytic anaemia, myopathy with altered mitochondria and mental retardation due to a new variant with accelerated enzyme catabolism and diminished specific activity. Europ. J. Pediat. 150: 761-766, 1991.
[0010511]1099.Hendrickson, R. J.; Snapka, R. M.; Sawyer, T. H.; Gracy, R. W. : Studies on human triosephosphate isomerase. II. Characterization of the enzyme from patients with the cri du chat syndrome. Am. J. Hum. Genet. 25: 433-438, 1973.
[0010512]1100.Hollan, S.; Fujii, H.; Hirono, A.; Hirono, K.; Karro, H.; Miwa, S.; Harsanyi, V.; Gyodi, E.; Inselt-Kovacs, M.: Hereditary triosephosphate isomerase (TPI) deficiency: two severely affected brothers one with and one without neurological symptoms. Hum. Genet. 92: 486-490, 1993.
[0010513]1101.Hopkinson, D. A.; Harris, H.: Recent work on isozymes in man. Ann. Rev. Genet. 5: 5-32, 1971.
[0010514]1102.Kwiatowski, J.; Krawczyk, M.; Kornacki, M.; Bailey, K.; Ayala, F. J.: Evidence against the exon theory of genes derived from the triose-phosphate isomerase gene. Proc. Nat. Acad. Sci. 92: 8503-8506, 1995.
[0010515]1103.Logsdon, J. M., Jr.; Tyshenko, M. G.; Dixon, C.; D.-Jafari, J.; Walker, V. K.; Palmer, J. D.: Seven newly discovered intron positions in the triose-phosphate isomerase gene: evidence for the introns-late theory. Proc. Nat. Acad. Sci. 92: 8507-8511, 1995.
[0010516]1104.Maquat, L. E.; Chilcote, R.; Ryan, P. M.: Human triosephosphate isomerase cDNA and protein structure: studies of triosephosphate isomerase deficiency in man. J. Biol. Chem. 260: 3748-3753, 1985.
[0010517]1105.Merkle, S.; Pretsch, W.: Characterization of triosephosphate isomerase mutants with reduced enzyme activity in Mus musculus. Genetics 123: 837-844, 1989.
[0010518]1106.Mohrenweiser, H. W.: Frequency of enzyme deficiency variants in erythrocytes of newborn infants. Proc. Nat. Acad. Sci. 78: 5046-5050, 1981.
[0010519]1107.Orosz, F.; Olah, J.; Alvarez, M.; Keseru, G. M.; Szabo, B.; Wagner, G.; Kovari, Z.; Horanyi, M.; Baroti, K.; Martial, J. A.; Hollan, S.; Ovadi, J.: Distinct behavior of mutant triosephosphate isomerase in hemolysate and in isolated form: molecular basis of enzyme deficiency. Blood 98: 3106-3112, 2001.
[0010520]1108.Pekrun, A.; Neubauer, B. A.; Eber, S. W.; Lakomek, M.; Seidel, H.; Schroter, W.: Triosephosphate isomerase deficiency: biochemical and molecular genetic analysis for prenatal diagnosis. Clin. Genet. 47: 175-179, 1995.
[0010521]1109.Perry, B. A.; Mohrenweiser, H. W.: Human triosephosphate isomerase: substitution of arg for gly at position 122 in a thermolabile electromorph variant, TPI-Manchester. Hum. Genet. 88: 634-638, 1992.
[0010522]1110.Peters, J.; Hopkinson, D. A.; Harris, H.: Genetic and non-genetic variations of triose phosphate isomerase isozymes in human tissues. Ann. Hum. Genet. 36: 297-312, 1973.
[0010523]1111.Rethore, M.-O.; Junien, C.; Malpuech, G.; Baccichetti, C.; Tenconi, R.; Kaplan, J.-C.; de Romeuf, J.; Lejeune, J.: Localisation du gene de la glyceraldehyde 3-phosphate deshydrogenase (G3PD) sur le segment distal du bras court du chromosome 12. Ann. Genet. 19: 140-142, 1976.
[0010524]1112.Rethore, M.-O.; Kaplan, J.-C.; Junien, C.; Lejeune, J.: 12pter-12p12.2: Possible assignment of human triosephosphate isomerase. Hum. Genet. 36: 235-237, 1977.
[0010525]1113.Rosa, R.; Prehu, M.-O.; Calvin, M.-C.; Badoual, J.; Alix, D.; Girod, R.: Hereditary triose phosphate isomerase deficiency: seven new homozygous cases. Hum. Genet. 71: 235-240, 1985.
[0010526]1114.Rudiger, H. W.; Passarge, E.; Hirth, L.; Goedde, H. W.; Blume, K. G.; Lohr, G. W.; Benohr, H. C.; Waller, H. D.: Triosephosphate isomerase gene not localized on the short arm of chromosome 5 in man. (Letter) Nature 228: 1320-1321, 1970.
[0010527]1115.Schneider, A.; Forman, L.; Westwood, B.; Yim, C.; Lin, J.; Singh, S.; Beutler, E.: The relationship of the -5, -8, and -24 variant alleles in African Americans to triosephosphate isomerase (TPI) enzyme activity and to TPI deficiency. Blood 92: 2959-2962, 1998.
[0010528]1116.Schneider, A. S.; Valentine, W. N.; Hattori, M.; Heins, H. L., Jr.: Hereditary hemolytic anemia with triosephosphate isomerase deficiency. New Eng. J. Med. 272: 229-235, 1965.
[0010529]1117.Sparkes, R. S.; Carrel, R. E.; Paglia, D. E.: Probable localization of a triosephosphate isomerase gene to the short arm of number 5 human chromosome. Nature 224: 367-398, 1969.
[0010530]1118.Stoltzfus, A.; Spencer, D. F.; Zuker, M.; Logsdon, J. M., Jr.; Doolittle, W. F.: Testing the exon theory of genes: the evidence from protein structure. Science 265: 202-207, 1994.
[0010531]1119.Vives-Corrons, J.-L.; Rubinson-Skala, H.; Mateo, M.; Estella, J.; Feliu, E.; Dreyfus, J.-C.: Triosephosphate isomerase deficiency with hemolytic anemia and severe neuromuscular disease: familial and biochemical studies of a case found in Spain. Hum. Genet. 42: 171-180, 1978.
[0010532]1120.Shprintzen, R. J.; Goldberg, R.; Golding-Kushner, K. J.; Marion, R.: Late-onset psychosis in the velo-cardio-facial syndrome. Am. J. Med. Genet. 42: 141-142, 1992.
[0010533]1121.Sirotkin, H.; Morrow, B.; DasGupta, R.; Goldberg, R.; Patanjali, S. R.; Shi, G.; Cannizzaro, L.; Shprintzen, R.; Weissman, S. M.; Kucherlapati, R.: Isolation of a new clathrin heavy chain gene with muscle-specific expression from the region commonly deleted in velo-cardio-facial syndrome. Hum. Molec. Genet. 5: 617-624, 1996.
[0010534]1122.Sirotkin, H.; Morrow, B.; Saint-Jore, B.; Puech, A.; Das Gupta, R.; Patanjali, S. R.; Skoultchi, A.; Weissman, S. M.; Kucherlapati, R.: Identification, characterization, and precise mapping of a human gene encoding a novel membrane-spanning protein from the 22q11 region deleted in velocardio-facial syndrome. Genomics 42: 245-251, 1997.
[0010535]1123.Aoyama, T.; Souri, M.; Ueno, I.; Kamijo, T.; Yamaguchi, S.; Rhead, W. J.; Tanaka, K.; Hashimoto, T.: Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients. Am. J. Hum. Genet. 57: 273-283, 1995.
[0010536]1124.Andresen, B. S.; Bross, P.; Vianey-Saban, C.; Divry, P.; Zabot, M.-T.; Roe, C. R.; Nada, M. A.; Byskov, A.; Kruse, T. A.; Neve, S.; Kristiansen, K.; Knudsen, I.; Corydon, M. J.; Gregersen, N.: Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene. Hum. Molec. Genet. 5: 461-472, 1996.
[0010537]1125.Aoyama, T.; Souri, M.; Ushikubo, S.; Kamijo, T.; Yamaguchi, S.; Kelley, R. I.; Rhead, W. J.; Uetake, K.; Tanaka, K.; Hashimoto, T. : Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients. J. Clin. Invest. 95: 2465-2473, 1995.
[0010538]1126.Aoyama, T.; Uchida, Y.; Kelley, R. I.; Marble, M.; Hofman, K.; Tonsgard, J. H.; Rhead, W. J.; Hashimoto, T.: A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase. Biochem. Biophys. Res. Commun. 191: 1369-1372, 1993.
[0010539]1127.Bertrand, C.; Largilliere, C.; Zabot, M. T.; Mathieu, M.; Vianey-Saban, C.: Very long chain acyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts. Biochim. Biophys. Acta 1180: 327-329, 1993.
[0010540]1128.Cox, G. F.; Souri, M.; Aoyama, T.; Rockenmacher, S.; Varvogli, L.; Rohr, F.; Hashimoto, T.; Korson, M. S.: Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency. J. Pediat. 133: 247-253, 1998.
[0010541]1129.Cox, K. B.; Hamm, D. A.; Millington, D. S.; Matern, D.; Vockley, J.; Rinaldo, P.; Pinkert, C. A.; Rhead, W. J.; Lindsey, J. R.; Wood, P. A.: Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouse. Hum. Molec. Genet. 10: 2069-2077, 2001.
[0010542]1130.Fukao, T.; Watanabe, H.; Orii, K. E.; Takahashi, Y.; Hirano, A.; Kondo, T.; Yamaguchi, S.; Aoyama, T.; Kondo, N.: Myopathic form of very-long chain acyl-CoA dehydrogenase deficiency: evidence for temperature-sensitive mild mutations in both mutant alleles in a Japanese girl. Pediat. Res. 49: 227-231, 2001.
[0010543]1131.Izai, K.; Uchida, Y.; Orii, T.; Yamamoto, S.; Hashimoto, T.: Novel fatty acid betaoxidation enzymes in rat liver mitochondria. I. Purification and properties of very-long-chain acylcoenzyme A dehydrogenase. J. Biol. Chem. 267: 1027-1033, 1992.
[0010544]1132.Mathur, A.; Sims, H. F.; Gopalakrishnan, D.; Gibson, B.; Rinaldo, P.; Vockley, J.; Hug, G.; Strauss, A. W.: Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death. Circulation 99: 1337-1343, 1999.
[0010545]1133.Ogilvie, I.; Pourfarzam, M.; Jackson, S.; Stockdale, C.; Bartlett, K.; Turnbull, D. M.: Very long-chain acyl coenzyme A dehydrogenase deficiency presenting with exercise-induced myoglobinuria. Neurology 44: 467-473, 1994.
[0010546]1134.Orii, K. O.; Saito-Ohara, F.; Ikeuchi, T.; Orii, T.; Kondo, N.; Aoyama, T.; Hashimoto, T.: Assignment of the gene for very-long-chain acyl-CoA dehydrogenase (Acadvl) to mouse chromosome band 11B2-B5 by in situ hybridization. Cytogenet. Cell Genet. 78: 25-26, 1997.
[0010547]1135.Parini, R.; Menni, F.; Garavaglia, B.; Fesslova, V.; Melotti, D.; Massone, M. L.; Lamantea, E.; Rimoldi, M.; Vizziello, P.; Gatti, R.: Acute, severe cardiomyopathy as main symptom of late-onset very long-chain acyl-coenzyme A dehydrogenase deficiency. Europ. J. Pediat. 157: 992-995, 1998.
[0010548]1136.Smelt, A. H. M.; Poorthuis, B. J. H. M.; Onkenhout, W.; Scholte, H. R.; Andresen, B. S.; van Duinen, S. G.; Gregersen, N.; Wintzen, A. R.: Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset. Ann. Neurol. 43: 540-544, 1998.
[0010549]1137.Souri, M.; Aoyama, T.; Orii, K.; Yamaguchi, S.; Hashimoto, T. : Mutation analysis of very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: identification and characterization of mutant VLCAD cDNAs from four patients. Am. J. Hum. Genet. 58: 97-106, 1996.
[0010550]1138.Strauss, A. W.; Powell, C. K.; Hale, D. E.; Anderson, M. M.; Ahuja, A.; Brackett, J. C.; Sims, H. F.: Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood. Proc. Nat. Acad. Sci. 92: 10496-10500, 1995.
[0010551]1139.Tonsgard, J. H.; Stephens, J. K.; Rhead, W. J.; Penn, D.; Horwitz, A. L.; Kirschner, B. S.; Whitington, P. F.; Berger, S.; Tripp, M. E.: Defect in fatty acid oxidation: laboratory and pathologic findings in a patient. Pediat. Neurol. 7: 125-130, 1991.
[0010552]1140.Yamaguchi, S.; Indo, Y.; Coates, P. M.; Hashimoto, T.; Tanaka, K.: Identification of very-long-chain acyl-CoA dehydrogenase deficiency in three patients previously diagnosed with longchain acyl-CoA dehydrogenase deficiency. Pediat. Res. 34: 111-113, 1993.
[0010553]1141.Berx, G.; Becker, K.-F.; Hofler, H.; van Roy, F.: Mutations of the human E-cadherin (CDH1) gene. Hum. Mutat. 12: 226-237, 1998.
[0010554]1142.Broeks, A.; Urbanus, J. H. M.; Floore, A. N.; Dahler, E. C.; Klijn, J. G. M.; Rutgers, E. J. Th.; Devilee, P.; Russell, N. S.; van Leeuwen, F. E.; van't Veer, L. J.: ATM-heterozygous germline mutations contribute to breast cancer-susceptibility. Am. J. Hum. Genet. 66: 494-500, 2000.
[0010555]1143.Freund, C. L.; Valle, D.: Cloning and initial characterization of the cDNA and gene for human recoverin. (Abstract) Am. J. Hum. Genet. 51 (suppl.): A6 only, 1992.
[0010556]1144.Heckenlively, J. R.; Fawzi, A. A.; Oversier, J.; Jordan, B. L.; Aptsiauri, N.: Autoimmune retinopathy: patients with antirecoverin immunoreactivity and panretinal degeneration. Arch. Ophthal. 118: 1525-1533, 2000.
[0010557]1145.Hurley, J. B.; Dizhoor, A. M.; Ray, S.; Stryer, L.: Recoverin's role: conclusion withdrawn. (Letter) Lancet 260: 740 only, 1993.
[0010558]1146.McGinnis, J. F.; Lerious, V.; Pazik, J.; Elliott, R. W.: Chromosomal assignment of the recoverin gene and cancer-associated retinopathy. Mammalian Genome 4: 43-45, 1993.
[0010559]1147.McGinnis, J. F.; Leveille, P. J.: Soluble retinal proteins associated with photoreceptor cell death in the rd mouse. Curr. Eye Res. 4: 1127-1135, 1985.
[0010560]1148.McGinnis, J. F.; Stepanik, P. L.; Baehr, W.; Subbaraya, I.; Lerious, V.: Cloning and sequencing of the 23 kDa mouse photoreceptor cell-specific protein. FEBS Lett. 302: 172-176, 1992.
[0010561]1149.Murakami, A.; Yajima, T.; Inana, G.: Isolation of human retinal genes: recoverin cDNA and gene. Biochem. Biophys. Res. Commun. 187: 234-244, 1992.
[0010562]1150.Polans, A. S.; Buczylko, J.; Crabb, J.; Palczewski, K.: A photoreceptor calcium binding protein is recognized by autoantibodies obtained from patients with cancer-associated retinopathy. J. Cell Biol. 112: 981-989, 1991.
[0010563]1151.Polans, A. S.; Witkowska, D.; Haley, T. L.; Amundson, D.; Baizer, L.; Adamus, G.: Recoverin, a photoreceptor-specific calcium-binding protein, is expressed by the tumor of a patient with cancer-associated retinopathy. Proc. Nat. Acad. Sci. 92: 9176-9180, 1995.
[0010564]1152.Thirkill, C. E.; Roth, A. M.; Keltner, J. L.: Cancer-associated retinopathy. Arch. Ophthal. 105: 372-375, 1987.
[0010565]1153.Jaffe, E. R.: Personal Communication. Bronx, N. Y. 8/5/1987.
[0010566]1154.Bascom, R.; Manara, S.; Gallie, B.; Willard, H.; Kalnins, V.; McInnes, R. R.: Identification of a new mammalian photoreceptor-specific gene family. (Abstract) Am. J. Hum. Genet. 45: A172 only, 1989.
[0010567]1155.Bascom, R. A.; Garcia-Heras, J.; Hsieh, C.-L.; Gerhard, D. S.; Jones, C.; Francke, U.; Willard, H. F.; Ledbetter, D. H.; McInnes, R. R.: Localization of the photoreceptor gene ROM1 to human chromosome 11 and mouse chromosome 19: sublocalization to human 11q13 between PGA and PYGM. Am. J. Hum. Genet. 51: 1028-1035, 1992.
[0010568]1156.Bascom, R. A.; Liu, L.; Chen, J.; Duncan, A.; Kimberling, W. J.; Moller, C. G.; Humphries, P.; Nathans, J.; McInnes, R. R.: ROM1: a candidate gene for autosomal dominant retinitis pigmentosa (ADRP), Usher syndrome type 1, and Best vitelliform macular dystrophy. (Abstract) Am. J. Hum. Genet. 51 (suppl.): A6 only, 1992.
[0010569]1157.Finegold, D. N.; Armitage, M. M.; Galiani, M.; Matise, T. C.; Pandian, M. R.; Perry, Y. M.; Deka, R.; Ferrell, R. E.: Preliminary localization of a gene for autosomal dominant hypoparathyroidism to chromosome 3q13. Pediat. Res. 36: 414-417, 1994.
[0010570]1158.Goldbloom, R. B.; Gillis, D. A.; Prasad, M.: Hereditary parathyroid hyperplasia: a surgical emergency of early infancy. Pediatrics 49: 514-523, 1972.
[0010571]1159.Ho, C.; Conner, D. A.; Pollak, M. R.; Ladd, D. J.; Kifor, O.; Warren, H. B.; Brown, E. M.; Seidman, J. G.; Seidman, C. E.: A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Nature Genet. 11: 389-394, 1995.
[0010572]1160.Janicic, N.; Soliman, E.; Pausova, Z.; Seldin, M. F.; Riviere, M.; Szpirer, J.; Szpirer, C.; Hendy, G. N.: Mapping of the calcium-sensing gene (CASR) to human chromosome 3q13.3-21 by fluorescence in situ hybridization, and localization to rat chromosome 11 and mouse chromosome 16. Mammalian Genome 6: 798-801, 1995.
[0010573]1161.Marx, S. J.; Attie, M. F.; Spiegel, A. M.; Levine, M. A.; Lasker, R. D.; Fox, M.: An association between neonatal severe primary hyperparathyroidism and familial hypocalciuric hypercalcemia in three kindreds. New Eng. J. Med. 306: 257-264, 1982.
[0010574]1162.Meeran, K.; Husain, M.; Puccini, M.; Scott, H.; Dionisi-Vici, D.; Harvey, D. R.; Lynn, J.; Thakker, R. V.: Neonatal primary hyperparathyroidism masked by vitamin D deficiency. Clin. Endocr. 41: 531-534, 1994.
[0010575]1163.Pearce, S. H. S.; Trump, D.; Wooding, C.; Besser, G. M.; Chew, S. L.; Grant, D. B.; Heath, D. A.; Hughes, I. A.; Paterson, C. R.; Whyte, M. P.; Thakker, R. V.: Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism. J. Clin. Invest. 96: 2683-2692, 1995.
[0010576]1164.Pollak, M. R.; Brown, E. M.; Chou, Y.-H. W.; Hebert, S. C.; Marx, S. J.; Steinmann, B.; Levi, T.; Seidman, C. E.; Seidman, J. G.: Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell 75: 1297-1303, 1993.
[0010577]1165.Pollak, M. R.; Brown, E. M.; Estep, H. L.; McLaine, P. N.; Kifor, O.; Park, J.; Hebert, S. C.; Seidman, C. E.; Seidman, J. G.: Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation. Nature Genet. 8: 303-307, 1994.
[0010578]1166.Pollak, M. R.; Chou, Y.-H. W.; Marx, S. J.; Steinmann, B.; Cole, D. E. C.; Brandi, M. L.; Papapoulos, S. E.; Menko, F. H.; Hendy, G. N.; Brown, E. M.; Seidman, C. E.; Seidman, J. G.: Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism: effects of mutant gene dosage on phenotype. J. Clin. Invest. 93: 1108-1112, 1994.
[0010579]1167.Pratt, E. L.; Geren, B. B.; Neuhauser, E. B. D.: Hypercalcemia and idiopathic hyperplasia of the parathyroid glands in an infant. J. Pediat. 30: 388-399, 1947.
[0010580]1168.Steinmann, B.; Gnehm, H. E.; Rao, V. H.; Kind, H. P.; Prader, A.: Neonatal severe primary hyperparathyroidism and alkaptonuria in a boy born to related parents with familial hypocalciuric hypercalcemia. Helv. Paediat. Acta 39: 171-186, 1984.
[0010581]1169.Stadler, H. S.; Padanilam, B. J.; Buetow, K.; Murray, J. C.; Solursh, M.: Identification and genetic mapping of a homeobox gene to the 4p16.1 region of human chromosome 4. Proc. Nat. Acad. Sci. 89: 11579-11583, 1992.
[0010582]1170.Wang, W.; Yoshiura, K.; Murray, J.; Lufkin, T.: Assignment of the murine Hmx1 homeobox gene to the proximal region of mouse chromosome 5. Mammalian Genome 8: 869-876, 1997.
[0010583]1171.Faiella, A.; D'Esposito, M.; Rambaldi, M.; Acampora, D.; Balsofiore, S.; Stornaiuolo, A.; Mallamaci, A.; Migliaccio, E.; Gulisano, M.; Simeone, A.; Boncinelli, E.: Isolation and mapping of EVX1, a human homeobox gene homologous to even-skipped, localized at the 5-prime end of HOX1 locus on chromosome 7. Nucleic Acids Res. 19: 6541-6545, 1991.
[0010584]1172.Raftery, M. J.; Schwab, M.; Eibert, S. M.; Samstag, Y.; Walczak, H.; Schonrich, G.: Targeting the function of mature dendritic cells by human cytomegalovirus: a multilayered viral defense strategy. Immunity 15: 997-1009, 2001.
[0010585]1173.Gough, A. C.; Zhong, S.; Wolf, C. R.; Spurr, N. K.: Chromosome assignment of the human glutathione S-transferase mu-3 gene (GSTM3) to chromosome 1 by gene specific polymerase chain reaction. Cytogenet. Cell Genet. 65: 111-114, 1994.
[0010586]1174.Smith, R. E., Jr.; Jaiyesimi, I. A.; Meza, L. A.; Tchekmedyian, N. S.; Chan, D.; Griffith, H.; Brosman, S.; Bukowski, R.; Murdock, M.; Rarick, M.; Saven, A.; Colowick, A. B.; Fleishman, A.; Gayko, U.; Glaspy, J.: Novel erythropoiesis stimulating protein (NESP) for the treatment of anaemia of chronic disease associated with cancer. Brit. J. Cancer 84: 24-30, 2001.
[0010587]1175.Mangion, J.; Rahman, N.; Mansour, S.; Brice, G.; Rosbotham, J.; Child, A. H.; Murday, V. A.; Mortimer, P. S.; Barfoot, R.; Sigurdsson, A.; Edkins, S.; Sarfarazi, M.; Burnand, K.; Evans, A. L.; Nunan, T. O.; Stratton, M. R.; Jeffery, S.: A gene for lymphedema-distichiasis maps to 16q24.3. Am. J. Hum. Genet. 65: 427-432, 1999.
[0010588]1176.Galiegue-Zouitina, S.; Quief, S.; Hildebrand, M.-P.; Denis, C.; Detourmignies, L.; Lai, J.-L.; Kerckaert, J.-P.: Nonrandom fusion of L-plastin (LCP1) and LAZ3 (BCL6) genes by t(3;13)(q27;q14) chromosome translocation in two cases of B-cell non-Hodgkin lymphoma. Genes Chromosomes Cancer 26: 97-105, 1999.
[0010589]1177.Giometti, C. S.; Anderson, N. L.: A variant of human nonmuscle tropomyosin found in fibroblasts by using two-dimensional electrophoresis. J. Biol. Chem. 256: 11840-11846, 1981.
[0010590]1178.Hamaguchi, H.; Ohta, A.; Mukai, R.; Yabe, T.; Yamada, M.: Genetic analysis of human lymphocyte proteins by two-dimensional gel electrophoresis: 1. Detection of genetic variant polypeptides in PHA-stimulated peripheral blood lymphocyte. Hum. Genet. 59: 215-220, 1981.
[0010591]1179.Hamaguchi, H.; Yamada, M.; Noguchi, A.; Fujii, K.; Shibasaki, M.; Mukai, R.; Yabe, T.; Kondo, I.: Genetic analysis of human lymphocyte proteins by two-dimensional gel electrophoresis: 2. Genetic polymorphism of lymphocyte cytosol 64K polypeptide. Hum. Genet. 60: 176-180, 1982.
[0010592]1180.Hamaguchi, H.; Yamada, M.; Shibasaki, M.; Kondo, I.: Genetic analysis of human lymphocyte proteins by two-dimensional gel electrophoresis: 4. Genetic polymorphism of cytosol 100k polypeptide. Hum. Genet. 62: 148-151, 1982.
[0010593]1181.Hamaguchi, H.; Yamada, M.; Shibasaki, M.; Mukai, R.; Yabe, T.; Kondo, I.: Genetic analysis of human lymphocyte proteins by two-dimensional gel electrophoresis: 3. Frequent occurrence of genetic variants in some abundant polypeptides of PHA-stimulated peripheral blood lymphocytes. Hum. Genet. 62: 142-147, 1982.
[0010594]1182.Klose, J.: Protein mapping by combined isoelectric focusing and electrophoresis of mouse tissue: a novel approach to testing for induced point mutations in mammals. Humangenetik 26: 231-243, 1975.
[0010595]1183.Klose, J.; Feller, M.: Genetic variability of proteins from plasma membranes and cytosols of mouse organs. Biochem. Genet. 19: 859-870, 1981.
[0010596]1184.Kondo, I.; Hamaguchi, H.: Evidence for the close linkage between lymphocyte cytosol polypeptide with molecular weight of 64,000 (LCP1) and esterase D. Am. J. Hum. Genet. 37: 1106-1111, 1985.
[0010597]1185.Kondo, I.; Hamaguchi, H.: Study of the linkage relationship between LCP1 and ESD. (Abstract) Cytogenet. Cell Genet. 40: 672 only, 1985.
[0010598]1186.Michelson, A. M.; Russell, E. S.; Harman, P. J.: Dystrophia muscularis: a hereditary primary myopathy in the house mouse. Proc. Nat. Acad. Sci. 41: 1079-1084, 1955.
[0010599]1187.Roberts, R. G.; Freeman, T. C.; Kendall, E.; Vetrie, D. L. P.; Dixon, A. K.; Shaw-Smith, C.; Bone, Q.; Bobrow, M.: Characterization of DRP2, a novel human dystrophin homologue. Nature Genet. 13: 223-226, 1996.
[0010600]1188.Xu, H.; Christmas, P.; Wu, X.-R.; Wewer, U. M.; Engvall, E.: Defective muscle basement membrane and lack of M-laminin in the dystrophic dy/dy mouse. Proc. Nat. Acad. Sci. 91: 5572-5576, 1994.
[0010601]1189.Watkins, P. C.; Eddy, R.; Hoffman, N.; Stanislovitis, P.; Beck, A. K.; Galli, J.; Vellucci, V.; Gusella, J. F.; Shows, T. B.: Regional assignment of the erythropoietin gene to human chromosome region 7pter-q22. Cytogenet. Cell Genet. 42: 214-218, 1986.
[0010602]1190.Akashi, K.; Traver, D.; Miyamoto, T.; Weissman, I. L.: A clonogenic common myeloid progenitor that gives rise to all myeloid lineages. Nature 404: 193-197, 2000.
[0010603]1191.Arcasoy, M. O.; Degar, B. A.; Harris, K. W.; Forget, B. G.: Familial erythrocytosis associated with a short deletion in the erythropoietin receptor gene. Blood 89: 4628-4635, 1997.
[0010604]1192.Budarf, M.; Huebner, K.; Emanuel, B.; Croce, C. M.; Copeland, N. G.; Jenkins, N. A.; D'Andrea, A. D.: Assignment of the erythropoietin receptor (EPOR) gene to mouse chromosome 9 and human chromosome 19. Genomics 8: 575-578, 1990.
[0010605]1193.D'Andrea, A. D.; Yoshimura, A.; Youssoufian, H.; Zon, L. I.; Koo, J.-W.; Lodish, H. F.: The cytoplasmic region of the erythropoietin receptor contains nonoverlapping positive and negative growth-regulatory domains. Molec. Cell. Biol. 11: 1980-1987, 1991.
[0010606]1194.D'Andrea, A. D.; Zon, L. I.: Erythropoietin receptor: subunit structure and activation. J. Clin. Invest. 86: 681-687, 1990.
[0010607]1195.de la Chapelle, A.; Traskelin, A.-L.; Juvonen, E.: Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis. Proc. Nat. Acad. Sci. 90: 4495-4499, 1993.
[0010608]1196.Divoky, V.; Liu, Z.; Ryan, T. M.; Prchal, J. F.; Townes, T. M.; Prchal, J. T.: Mouse model of congenital polycythemia: homologous replacement of murine gene by mutant human erythropoietin receptor gene. Proc. Nat. Acad. Sci. 98: 986-991, 2001.
[0010609]1197.Hess, G.; Rose, P.; Gamm, H.; Papadileris, S.; Huber, C.; Seliger, B.: Molecular analysis of the erythropoietin receptor system in patients with polycythaemia vera. Brit. J. Haemat. 88: 794-802, 1994.
[0010610]1198.Jones, S. S.; D'Andrea, A. D.; Haines, L. L.; Wong, G. G.: Human erythropoietin receptor: cloning, expression, and biologic characterization. Blood 76: 31-35, 1990.
[0010611]1199.Kralovics, R.; Indrak, K.; Stopka, T.; Berman, B. W.; Prchal, J. F.; Prchal, J. T.: Two new EPO receptor mutations: truncated EPO receptors are most frequently associated with primary familial and congenital polycythemias. Blood 90: 2057-2061, 1997.
[0010612]1200.Kralovics, R.; Sokol, L.; Prchal, J. T.: Absence of polycythemia in a child with a unique erythropoietin receptor mutation in a family with autosomal dominant primary polycythemia. J. Clin. Invest. 102: 124-129, 1998.
[0010613]1201.Le Couedic, J.-P.; Mitjavila, M.-T.; Villeval, J.-L.; Feger, F.; Gobert, S.; Mayeux, P.; Casadevall, N.; Vainchenker, W.: Missense mutation of the erythropoietin receptor is a rare event in human erythroid malignancies. Blood 87: 1502-1511, 1996.
[0010614]1202.Longmore, G. D.; Lodish, H. F.: An activating mutation in the murine erythropoietin receptor induces erythroleukemia in mice: a cytokine receptor superfamily oncogene. Cell 67: 1089-1102, 1991.
[0010615]1203.Maouche, L.; Tournamille, C.; Hattab, C.; Boffa, G.; Cartron, J.-P.; Chretien, S.: Cloning of the gene encoding the human erythropoietin receptor. Blood 78: 2557-2563, 1991.
[0010616]1204.Noguchi, C. T.; Bae, K. S.; Chin, K.; Wada, Y.; Schechter, A. N.; Hankins, W. D.: Cloning of the human erythropoietin receptor gene. Blood 78: 2548-2556, 1991.
[0010617]1205.Penny, L. A.; Forget, B. G.: Genomic organization of the human erythropoietin receptor gene. Genomics 11: 974-980, 1991.
[0010618]1206.Percy, M. J.; McMullin, M. F.; Roques, A. W. W.; Westwood, N. B.; Acharya, J.; Hughes, A. E.; Lappin, T. R. J.; Pearson, T. C.: Erythrocytosis due to a mutation in the erythropoietin receptor gene. Brit. J. Haemat. 100: 407-410, 1998.
[0010619]1207.Sistonen, P.; Traskelin, A.-L.; Lehvaslaiho, H.; de la Chapelle, A.: Genetic mapping of the erythropoietin receptor gene. Hum. Genet. 92: 299-301, 1993.
[0010620]1208.Sokol, L.; Luhovy, M.; Guan, Y.; Prchal, J. F.; Semenza, G. L.; Prchal, J. T.: Primary familial polycythemia: a frameshift mutation in the erythropoietin receptor gene and increased sensitivity of erythroid progenitors to erythropoietin. Blood 86: 15-22, 1995.
[0010621]1209.Ward, J. C.; Harris, K. W.; Penny, L. A.; Forget, B. G.; Kitamura, T.; Winkelmann, J. C.: A structurally abnormal erythropoietin receptor gene in a human erythroleukemia cell line. Exp. Hemat. 20: 371-373, 1992.
[0010622]1210.Winkelmann, J. C.; Penny, L. A.; Deaven, L. L.; Forget, B. G.; Jenkins, R. B.: The gene for the human erythropoietin receptor: analysis of the coding sequence and assignment to chromosome 19p. Blood 76: 24-30, 1990.
[0010623]1211.Yu, X.; Lin, C.-S.; Costantini, F.; Noguchi, C. T.: The human erythropoietin receptor gene rescues erythropoiesis and developmental defects in the erythropoietin receptor null mouse. Blood 98: 475-477, 2001.
[0010624]1212.Baier, L. J.; Sacchettini, J. C.; Knowler, W. C.; Eads, J.; Paolisso, G.; Tataranni, P. A.; Mochizuki, H.; Bennett, P. H.; Bogardus, C.; Prochazka, M.: An amino acid substitution in the human intestinal fatty acid binding protein is associated with increased fatty acid binding, increased fat oxidation, and insulin resistance. J. Clin. Invest. 95: 1281-1287, 1995.
[0010625]1213.Carlsson, M.; Orho-Melander, M.; Hedenbro, J.; Almgren, P.; Groop, L. C.: The T54 allele of the intestinal fatty acid-binding protein 2 is associated with a parental history of stroke. J. Clin. Endocr. Metab. 85: 2801-2804, 2000.
[0010626]1214.Georgopoulos, A.; Aras, O.; Tsai, M. Y.: Codon-54 polymorphism of the fatty acidbinding protein 2 gene is associated with elevation of fasting and postprandial triglyceride in type 2 diabetes. J. Clin. Endocr. Metab. 85: 3155-3160, 2000.
[0010627]1215.Hegele, R. A.; Harris, S. B.; Hanley, A. J. G.; Sadikian, S.; Connelly, P. W.; Zinman, B.: Genetic variation of intestinal fatty acid-binding protein associated with variation in body mass in aboriginal Canadians. J. Clin. Endocr. Metab. 81: 4334-4337, 1996.
[0010628]1216.Polymeropoulos, M. H.; Rath, D. S.; Xiao, H.; Merril, C. R.: Trinucleotide repeat polymorphism at the human intestinal fatty acid binding protein gene (FABP2). Nucleic Acids Res. 18: 7198 only, 1991.
[0010629]1217.Prochazka, M.; Lillioja, S.; Tait, J. F.; Knowler, W. C.; Mott, D. M.; Spraul, M.; Bennett, P. H.; Bogardus, C.: Linkage of chromosomal markers on 4q with a putative gene determining maximal insulin action in Pima Indians. Diabetes 42: 514-519, 1993.
[0010630]1218.Sipilainen, R.; Uusitupa, M.; Heikkinen, S.; Rissanen, A.; Laakso, M.: Variants in the human intestinal fatty acid binding protein 2 gene in obese subjects. J. Clin. Endocr. Metab. 82: 2629-2632, 1997.
[0010631]1219.Sparkes, R. S.; Mohandas, T.; Heinzmann, C.; Gordon, J. I.; Klisak, I.; Zollman, S.; Sweetser, D. A.; Ragunathan, L.; Winokur, S.; Lusis, A. J.: Human fatty acid binding protein assignments intestinal to 4q28-4q31 and liver to 2p11. (Abstract) Cytogenet. Cell Genet. 46: 697 only, 1987.
[0010632]1220.Sweetser, D. A.; Birkenmeier, E. H.; Klisak, I. J.; Zollman, S.; Sparkes, R. S.; Mohandas, T.; Lusis, A. J.; Gordon, J. I.: The human and rodent intestinal fatty acid binding protein genes: a comparative analysis of their structure, expression, and linkage relationships. J. Biol. Chem. 262: 16060-16071, 1987.
[0010633]1221.Weber, J. L.; Kwitek, A. E.; May, P. E.; Polymeropoulos, M.: Dinucleotide repeat polymorphism at the D12S43 locus. Nucleic Acids Res. 18: 4637 only, 1990.
[0010634]1222.Weber, J. L.; May, P. E.: Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am. J. Hum. Genet. 44: 388-396, 1989.
[0010635]1223.Buckle, V. J.; Fujita, N.; Bateson, A. N.; Darlison, M. G.; Barnard, E. A.: Localization of human GABA-A receptor subunit genes to chromosomes 4 and 5. (Abstract) Cytogenet. Cell Genet. 51: 972 only, 1989.
[0010636]1224.Danciger, M.; Farber, D. B.; Kozak, C. A.: Genetic mapping of three GABA-A receptorsubunit genes in the mouse. Genomics 16: 361-365, 1993.
[0010637]1225.Hadingham, K. L.; Wingrove, P.; Le Bourdelles, B.; Palmer, K. J.; Ragan, C. I.; Whiting, P. J.: Cloning of cDNA sequences encoding human alpha-2 and alpha-3 gamma-aminobutyric acid-A receptor subunits and characterization of the benzodiazepine pharmacology of recombinant alpha-1-, alpha-2-, alpha-3-, and alpha-5-containing human gamma-aminobutyric acid-a receptors. Molec. Pharm. 43: 970-975, 1993.
[0010638]1226.Low, K.; Crestani, F.; Keist, R.; Benke, D.; Brunig, I.; Benson, J. A.; Fritschy, J.-M.; Rulicke, T.; Bluethmann, H.; Mohler, H.; Rudolph, U.: Molecular and neuronal substrate for the selective attenuation of anxiety. Science 290: 131-134, 2000.
[0010639]1227.Glatt, K.; Glatt, H.; Lalande, M.: Structure and organization of GABRB3 and GABRA5. Genomics 41: 63-69, 1997.
[0010640]1228.Glatt, K. A.; Sinnett, D.; Lalande, M.: Dinucleotide repeat polymorphism at the GABAA receptor alpha-5 (GABRA5) locus at chromosome 15q11-q13. Hum. Molec. Genet. 1: 348 only, 1992.
[0010641]1229.Knoll, J. H. M.; Sinnett, D.; Wagstaff, J.; Glatt, K.; Wilcox, A. S.; Whiting, P.; Wingrove, P.; Sikela, J.; Lalande, M.: FISH ordering of DNA markers within the Angelman/Prader-Willi chromosomal regions: mapping of a second GABA-A receptor subunit gene, GABRA5. (Abstract) Am. J. Hum. Genet. 51 (suppl.): A9 only, 1992.
[0010642]1230.Papadimitriou, G. N.; Dikeos, D. G.; Karadima, G.; Avramopoulos, D.; Daskalopoulou, E. G.; Vassilopoulos, D.; Stefanis, C. N.: Association between the GABA-A receptor alpha-5 subunit gene locus (GABRA5) and bipolar affective disorder. Am. J. Med. Genet. 81: 73-80, 1998.
[0010643]1231.Ritchie, R. J.; Mattei, M.-G.; Lalande, M.: A large polymorphic repeat in the pericentromeric region of human chromosome 15q contains three partial gene duplications. Hum. Molec. Genet. 7: 1253-1260, 1998.
[0010644]1232.Russek, S. J.; Farb, D. H.: Mapping of the beta-2 subunit gene (GABRB2) to microdissected human chromosome 5q34-q35 defines a gene cluster for the most abundant GABA-A receptor isoform. Genomics 23: 528-533, 1994.
[0010645]1233.Wingrove, P.; Hadingham, K.; Wafford, K.; Kemp, J. A.; Ragan, C. I.; Whiting, P.: Cloning and expression of a cDNA encoding the human GABA-A receptor alpha-5 subunit. Biochem. Soc. Trans. 20: 18S only, 1991.
[0010646]1234.Asuru, A. I.; Mellor, H.; Thomas, N. S. B.; Yu, L.; Chen, J.-J.; Crosby, J. S.; Hartson, S. D.; Kimball, S. R.; Jefferson, L. S.; Matts, R. L.: Cloning and characterization of cDNAs encoding the epsilon-subunit of eukaryotic initiation factor-2B from rabbit and human. Biochim. Biophys. Acta 1307: 309-317, 1996.
[0010647]1235.Shimizu, F.; Katagiri, T.; Suzuki, M.; Watanabe, T. K.; Okuno, S.; Kuga, Y.; Nagata, M.; Fujiwara, T.; Nakamura, Y.; Takahashi, E. : Cloning and chromosome assignment to 1q32 of a human cDNA (RAB7L1) encoding a small GTP-binding protein, a member of the RAS superfamily. Cytogenet. Cell Genet. 77: 261-263, 1997.
[0010648]1236.Brenner, R.; Perez, G. J.; Bonev, A. D.; Eckman, D. M.; Kosek, J. C.; Wiler, S. W.; Patterson, A. J.; Nelson, M. T.; Aldrich, R. W.: Vasoregulation by the beta-1 subunit of the calciumactivated potassium channel. Nature 407: 870-876, 2000.
[0010649]1237.Jiang, Z.; Wallner, M.; Meera, P.; Toro, L.: Human and rodent MaxiK channel betasubunit genes: cloning and characterization. Genomics 55: 57-67, 1999.
[0010650]1238.Knaus, H.-G.; Folander, K.; Garcia-Calvo, M.; Garcia, M. L.; Kaczorowski, G. J.; Smith, M.; Swanson, R.: Primary sequence and immunological characterization of beta-subunit of high conductance Ca(2+)-activated K+ channel from smooth muscle. J. Biol. Chem. 269: 17274-17278, 1994.
[0010651]1239.Meera, P.; Wallner, M.; Jiang, Z.; Toro, L.: A calcium switch for the functional coupling between alpha (hslo) and beta subunits (K(V), Ca-beta) of maxi K channels. FEBS Lett. 382: 84-88, 1996.
[0010652]1240.Tseng-Crank, J.; Godinot, N.; Johansen, T. E.; Ahring, P. K.; Strobaek, D.; Mertz, R.; Foster, C. D.; Olesen, S.-P.; Reinhart, P. H.: Cloning, expression, and distribution of a Ca(2+)-activated K+ channel beta-subunit from human brain. Proc. Nat. Acad. Sci. 93: 9200-9205, 1996.
[0010653]1241.Xie, J.; Black, D. L.: A CaMK IV responsive RNA element mediates depolarizationinduced alternative splicing of ion channels. Nature 410: 936-439, 2001.
[0010654]1242.Tsujimoto, A.; Nyunoya, H.; Morita, T.; Sato, T.; Shimotohno, K. : Isolation of cDNAs for DNA-binding proteins which specifically bind to a tax-responsive enhancer element in the long terminal repeat of human T-cell leukemia virus type I. J. Virol. 65: 1420-1426, 1991.
[0010655]1243.Griffitts, J. S.; Whitacre, J. L.; Stevens, D. E.; Aroian, R. V. : Bt toxin resistance from loss of a putative carbohydrate-modifying enzyme. Science 293: 860-864, 2001.
[0010656]1244.Isshiki, S.; Togayachi, A.; Kudo, T.; Nishihara, S.; Watanabe, M.; Kubota, T.; Kitajima, M.; Shiraishi, N.; Sasaki, K.; Andoh, T.; Narimatsu, H.: Cloning, expression, and characterization of a novel UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase (beta-3-Gal-T5) responsible for synthesis of type 1 chain in colorectal and pancreatic epithelia and tumor cells derived therefrom. J. Biol. Chem. 274: 12499-12507, 1999.
[0010657]1245.Burchett, S. A.; Volk, M. L.; Bannon, M. J.; Granneman, J. G.: Regulators of G protein signaling: rapid changes in mRNA abundance in response to amphetamine. J. Neurochem. 70: 2216-2219, 1998.
[0010658]1246.Chen, C.-K.; Burns, M. E.; He, W.; Wensel, T. G.; Baylor, D. A.; Simon, M. I.: Slowed recovery of rod photoresponse in mice lacking the GTPase accelerating protein RGS9-1. Nature 403: 557-560, 2000.
[0010659]1247.Granneman, J. G.; Zhai, Y.; Zhu, Z.; Bannon, M. J.; Burchett, S. A.; Schmidt, C. J.; Andrade, R.; Cooper, J.: Molecular characterization of human and rat RGS 9L, a novel splice variant enriched in dopamine target regions, and chromosomal localization of the RGS 9 gene. Molec. Pharm. 54: 687-694, 1998.
[0010660]1248.He, W.; Cowan, C. W.; Wensel, T. G.: RGS9, a GTPase accelerator for phototransduction. Neuron 20: 95-102, 1998.
[0010661]1249.Makino, E. R.; Handy, J. W.; Li, T.; Arshavsky, V. Y.: The GTPase activating factor for transducin in rod photoreceptors is the complex between RGS9 and type 5 G protein beta subunit. Proc. Nat. Acad. Sci. 96: 1947-1952, 1999.
[0010662]1250.Goto, K.; Kondo, H.: Molecular cloning and expression of a 90-kDa diacylglycerol kinase that predominantly localizes in neurons. Proc. Nat. Acad. Sci. 90: 7598-7602, 1993.
[0010663]1251.Ding, L.; Traer, E.; McIntyre, T. M.; Zimmerman, G. A.; Prescott, S. M.: The cloning and characterization of a novel human diacylglycerol kinase, DGK-iota. J. Biol. Chem. 273: 32746-32752, 1998.
[0010664]1252.Yoshida, K.; Yoshitomo-Nakagawa, K.; Seki, N.; Sasaki, M.; Sugano, S.: Cloning, expression analysis, and chromosomal localization of BH-protocadherin (PCDH7), a novel member of the cadherin superfamily. Genomics 49: 458-461, 1998.
[0010665]1253.Nothwang, H. G.; Kim, H. G.; Aoki, J.; Geisterfer, M.; Kubart, S.; Wegner, R. D.; van Moers, A.; Ashworth, L. K.; Haaf, T.; Bell, J.; Arai, H.; Tommerup, N.; Ropers, H. H.; Wirth, J.: Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain. Hum. Molec. Genet. 10: 797-806, 2001.
[0010666]1254.Katsanis, N.; Fisher, E. M. C.: Identification, expression, and chromosomal localization of ubiquitin conjugating enzyme 7 (UBE2G2), a human homologue of the Saccharomyces cerevisiae Ubc7 gene. Genomics 51: 128-131, 1998.
[0010667]1255.Rose, S. A.; Leek, J. P.; Moynihan, T. P.; Ardley, H. C.; Markham, A. F.; Robinson, P. A.: Assignment of the ubiquitin conjugating enzyme gene, UBE2G2, to human chromosome band 21q22.3 by in situ hybridization. Cytogenet. Cell Genet. 83: 98-99, 1998.
[0010668]1256.Beisswanger, R.; Corbeil, D.; Vannier, C.; Thiele, C.; Dohrmann, U.; Kellner, R.; Ashman, K.; Niehrs, C.; Huttner, W. B.: Existence of distinct tyrosylprotein sulfotransferase genes: molecular characterization of tyrosylprotein sulfotransferase-2. Proc. Nat. Acad. Sci. 95: 11134-11139, 1998.
[0010669]1257.Ouyang, Y.-B.; Lane, W. S.; Moore, K. L.: Tyrosylprotein sulfotransferase: purification and molecular cloning of an enzyme that catalyzes tyrosine O-sulfation, a common posttranslational modification of eukaryotic proteins Proc. Nat. Acad. Sci. 95: 2896-2901, 1998.
[0010670]1258.Ju, Y.-T.; Chang, A. C. Y.; She, B.-R.; Tsaur, M.-L.; Hwang, H.-M.; Chao, C. C.-K.; Cohen, S. N.; Lin-Chao, S.: Gas7: a gene expressed preferentially in growth-arrested fibroblasts and terminally differentiated Purkinje neurons affects neurite formation. Proc. Nat. Acad. Sci. 95: 11423-11428, 1998.
[0010671]1259.Kurtz, A.; Zimmer, A.: Interspecies fluorescence in situ hybridization further defines synteny homology between mouse chromosome 11 and human chromosome 17. Mammalian Genome 6: 379-380, 1995.
[0010672]1260.Megonigal, M. D.; Cheung, N.-K. V.; Rappaport, E. F.; Nowell, P. C.; Wilson, R. B.; Jones, D. H.; Addya, K.; Leonard, D. G. B.; Kushner, B. H.; Williams, T. M.; Lange, B. J.; Felix, C. A.: Detection of leukemia-associated MLL-GAS7 translocation early during chemotherapy with DNA topoisomerase II inhibitors. Proc. Nat. Acad. Sci. 97: 2814-2819, 2000.
[0010673]1261.Chrast, R.; Scott, H. S.; Chen, H.; Kudoh, J.; Rossier, C.; Minoshima, S.; Wang, Y.; Shimizu, N.; Antonarakis, S. E.: Cloning of two human homologs of the Drosophila single-minded gene SIM1 on chromosome 6q and SIM2 on 21q within the Down syndrome chromosomal region. Genome Res. 7: 615-624, 1997.
[0010674]1262.Holder, J. L., Jr.; Butte, N. F.; Zinn, A. R.: Profound obesity associated with a balanced translocation that disrupts the SIM1 gene. Hum. Molec. Genet. 9: 101-108, 2000.
[0010675]1263.Michaud, J. L.; Boucher, F.; Melnyk, A.; Gauthier, F.; Goshu, E.; Levy, E.; Mitchell, G. A.; Himms-Hagen, J.; Fan, C.-M.: Sim1 haploinsufficiency causes hyperphagia, obesity and reduction of the paraventricular nucleus of the hypothalamus. Hum. Molec. Genet. 10: 1465-1473, 2001.
[0010676]1264.Fan, C. M.; Kuwana, E.; Bulfone, A.; Fletcher, C. F.; Copeland, N. G.; Jenkins, N. A.; Crews, S.; Martinez, S.; Puelles, L.; Rubenstein, J. L.; Tessier-Lavigne, M.: Expression patterns of two murine homologs of Drosophila single-minded suggest possible roles in embryonic patterning and in the pathogenesis of Down syndrome. Molec. Cell. Neurosci. 7: 1-16, 1996.
[0010677]1265.Duke-Cohan, J. S.; Gu, J.; McLaughlin, D. F.; Xu, Y.; Freeman, G. J.; Schlossman, S. F.: Attractin (DPPT-L), a member of the CUB family of cell adhesion and guidance proteins, is secreted by activated human T lymphocytes and modulates immune cell interactions. Proc. Nat. Acad. Sci. 95: 11336-11341, 1998.
[0010678]1266.Gunn, T. M.; Miller, K. A.; He, L.; Hyman, R. W.; Davis, R. W.; Azarani, A.; Schlessman, S. F.; Duke-Cohan, J. S.; Barsh, G. S.: The mouse mahogany locus encodes a transmembrane form of human attractin. Nature 398: 152-156, 1999.
[0010679]1267.He, L.; Gunn, T. M.; Bouley, D. M.; Lu, X.-Y.; Watson, S. J.; Schlossman, S. F.; Duke-Cohan, J. S.; Barsh, G. S.: A biochemical function for attractin in agouti-induced pigmentation and obesity. Nature Genet. 27: 40-47, 2001.
[0010680]1268.Tang, W.; Gunn, T. M.; McLaughlin, D. F.; Barsh, G. S.; Schlossman, S. F.; Duke-Cohan, J. S.: Secreted and membrane attractin result from alternative splicing of the human ATRN gene. Proc. Nat. Acad. Sci. 97: 6025-6030, 2000.
[0010681]1269.Fields, S.; Song, O.: A novel genetic system to detect protein-protein interactions. (Letter) Nature 340: 245-246, 1989.
[0010682]1270.Gordon, D. M.; Shi, Q.; Dancis, A.; Pain, D.: Maturation of frataxin within mammalian and yeast mitochondria: one-step processing by matrix processing peptidase. Hum. Molec. Genet. 8: 2255-2262, 1999.
[0010683]1271.Koutnikova, H.; Campuzano, V.; Koenig, M.: Maturation of wild-type and mutated frataxin by the mitochondrial processing peptidase. Hum. Molec. Genet. 7: 1485-1489, 1998.
[0010684]1272.Lewis, T. M.; Roberts, M. L.; Bretag, A. H.: Immunolabelling for VDAC, the mitochondrial voltage-dependent anion channel, on sarcoplasmic reticulum from amphibian skeletal muscle. Neurosci. Lett. 181: 83-86, 1994.
[0010685]1273.Kondo, I.; Ikeuchi, T.; Nishigaki, I.; Takita, H.; Fujiki, K.; Takahashi, Y.; Hamaguchi, H.: Assignment of the gene for LCP1 on chromosome 13. (Abstract) Cytogenet. Cell Genet. 40: 673 only, 1985.
[0010686]1274.Spritz, R. A.: A study in scarlet. Nature Genet. 11: 225-226, 1995.
[0010687]1275.Xiao, H.; Neuveut, C.; Tiffany, H. L.; Benkirane, M.; Rich, E. A.; Murphy, P. M.; Jeang, K.-T.: Selective CXCR4 antagonism by Tat: implications for in vivo expansion of coreceptor use by HIV-1. Proc. Nat. Acad. Sci. 97: 11466-11471, 2000.
[0010688]1276.Akiyama, S.; Endo, H.; Inohara, N.; Ohta, S.; Kagawa, Y.: Gene structure and cell typespecific expression of the human ATP synthase alpha subunit. Biochim. Biophys. Acta 1219: 129-140, 1994.
[0010689]1277.Godbout, R.; Pandita, A.; Beatty, B.; Bie, W.; Squire, J. A.: Comparative genomic hybridization analysis of Y79 and FISH mapping indicate the amplified human mitochondrial ATP synthase alpha-subunit gene (ATP5A) maps to chromosome 18q12-q21. Cytogenet. Cell Genet. 77: 253-256, 1997.
[0010690]1278.Jabs, E. W.; Thomas, P. J.; Bernstein, M.; Coss, C.; Ferreira, G. C.; Pedersen, P. L.: Chromosomal localization of genes required for the terminal steps of oxidative metabolism: alpha and gamma subunits of ATP synthase and the phosphate carrier. Hum. Genet. 93: 600-602, 1994.
[0010691]1279.Kataoka, H; Biswas, C.: Nucleotide sequence of a cDNA for the alpha subunit of human mitochondrial ATP synthase. Biochim. Biophys. Acta 1089: 393-395, 1991.
[0010692]1280.Banfi, S.; Servadio, A.; Chung, M.; Kwiatkowski, T. J., Jr.; McCall, A. E.; Duvick, L. A.; Shen, Y.; Roth, E. J.; Orr, H. T.; Zoghbi, H. Y.: Identification and characterization of the gene causing type 1 spinocerebellar ataxia. Nature Genet. 7: 513-520, 1994.
[0010693]1281.Banfi, S.; Servadio, A.; Chung, M.-y.; Capozzoli, F.; Duvick, L. A.; Elde, R.; Zoghbi, H. Y.; Orr, H. T.: Cloning and developmental expression analysis of the murine homolog of the spinocerebellar ataxia type 1 gene (Sca1). Hum. Molec. Genet. 5: 33-40, 1996.
[0010694]1282.Burright, E. N.; Clark, H. B.; Servadio, A.; Matilla, T.; Feddersen, R. M.; Yunis, W. S.; Duvick, L. A.; Zoghbi, H. Y.; Orr, H. T.: SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat. Cell 82: 937-948, 1995.
[0010695]1283.Chung, M.; Ranum, L. P. W.; Duvick, L. A.; Servadio, A.; Zoghbi, H. Y.; Orr, H. T.: Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type 1. Nature Genet. 5: 254-258, 1993.
[0010696]1284.Giunti, P.; Sweeney, M. G.; Spadaro, M.; Jodice, C.; Novelletto, A.; Malaspina, P.; Frontali, M.; Harding, A. E.: The trinucleotide repeat expansion on chromosome 6p (SCA1) in autosomal dominant cerebellar ataxias. Brain 117: 645-649, 1994.
[0010697]1285.Raum, D.; Balner, H.; Petersen, B. H.; Alper, C. A.: Genetic polymorphism of serum complement components in the chimpanzee. Immunogenetics 10: 455-468, 1980.
[0010698]1286.Raum, D.; Glass, D.; Carpenter, C. B.; Alper, C. A.; Schur, P. H.: The chromosomal order of genes controlling the major histocompatibility complex, properdin factor B, and deficiency of the second component of complement. J. Clin. Invest. 58: 1240-1248, 1976.
[0010699]1287.Raum, D.; Glass, D.; Carpenter, C. B.; Schur, P. H.; Alper, C. A.: Mapping for the structural gene for the second component of complement with respect to the human major histocompatibility complex. Am. J. Hum. Genet. 31: 35-41, 1979.
[0010700]1288.Caturegli, P.; Hejazi, M.; Suzuki, K.; Dohan, O.; Carrasco, N.; Kohn, L. D.; Rose, N. R.: Hypothyroidism in transgenic mice expressing IFN-gamma in the thyroid. Proc. Nat. Acad. Sci. 97: 1719-1724, 2000.
[0010701]1289.Kondo, I.; Shin, K.; Honmura, S.; Nakajima, H.; Yamamura, E.; Satoh, H.; Terauchi, M.; Usuki, Y.; Takita, H.; Hamaguchi, H.: A case report of a patient with retinoblastoma and chromosome 13q deletion: assignment of a new gene (gene for LCP1) on human chromosome 13. Hum. Genet. 71: 263-266, 1985.
[0010702]1290.Lin, C.-S.; Aebersold, R. H.; Kent, S. B.; Varma, M.; Leavitt, J.: Molecular cloning and characterization of plastin, a human leukocyte protein expressed in transformed human fibroblasts. Molec. Cell. Biol. 8: 4659-4668, 1988.
[0010703]1291.Lin, C.-S.; Chang, C.-H.; Huynh, T.: The murine L-plastin gene promoter: identification and comparison with the human L-plastin gene promoter. DNA Cell Biol. 16: 9-16, 1997.
[0010704]1292.Lin, C.-S.; Park, T.; Chen, Z. P.; Leavitt, J.: Human plastin genes: comparative gene structure, chromosome location, and differential expression in normal and neoplastic cells. J. Biol. Chem. 268: 2781-2792, 1993.
[0010705]1293.McConkey, E. H.; Taylor, B. J.; Phan, D.: Human heterozygosity: a new estimate. Proc. Nat. Acad. Sci. 76: 6500-6504, 1979.
[0010706]1294.Murayama, N.; Tanaka, Y.; Hanyu, M.; Kobayashi, K.; Hamaguchi, H.; Kondo, I.: Assignment of l-plastin to 13q14.3. (Abstract) Human Genome Mapping Workshop 93 27 only, 1993.
[0010707]1295.O'Farrell, P. Z.; Goodman, H. M.; O'Farrell, P. H.: High resolution two-dimensional electrophoresis of basic as well as acidic proteins. Cell 12: 1133-1142, 1977.
[0010708]1296.Walton, K. E.; Steyer, D.; Gruenstein, E. I.: Genetic polymorphism in normal human fibroblasts as analyzed by two-dimensional polyacrylamide gel electrophoresis. J. Biol. Chem. 254: 7951-7960, 1979.
[0010709]1297.Zu, Y.; Kohno, M.; Kubota, I.; Nishida, E.; Hanaoka, M.; Namba, Y.: Characterization of interleukin 2 stimulated 65-kilodalton phosphoprotein in human T cells. Biochemistry 29: 1055-1062, 1990.
[0010710]1298.Zu, Y.; Shigesada, K.; Nishida, E.; Kubota, I.; Kohno, M.; Hanaoka, M.; Namba, Y.: 65-kilodalton protein phosphorylated by interleukin 2 stimulation bears two putative actin-binding sites and two calcium-binding sites. Biochemistry 29: 8319-8324, 1990.
[0010711]1299.Aggarwal, B. B.; Eessalu, T. E.; Hass, P. E.: Characterization of receptors for human tumour necrosis factor and their regulation by gamma-interferon. Nature 318: 665-667, 1985.
[0010712]1300.Evans, A. M.; Petersen, J. W.; Sekhon, G. S.; DeMars, R.: Mapping of prolactin and tumor necrosis factor-beta genes on human chromosome 6p using lymphoblastoid cell deletion mutants. Somat. Cell Molec. Genet. 15: 203-213, 1989.
[0010713]1301.Camara, V. M.; Harding, J. W.; Prieur, D. J.: Inherited lysozyme deficiency in rabbits: the absence of a primary isozyme of lysozyme as the cause of the condition. Lab. Invest. 63: 544-550, 1990.
[0010714]1302.Canet, D.; Sunde, M.; Last, A. M.; Miranker, A.; Spencer, A.; Robinson, C. V.; Dobson, C. M.: Mechanistic studies of the folding of human lysozyme and the origin of amyloidogenic behavior in its disease-related variants. Biochemistry 38: 6419-6427, 1999.
[0010715]1303.Dayhoff, M. O.: Atlas of Protein Sequence and Structure. Lactalbumin and Lysozyme. Washington: National Biomedical Research Foundation (pub.) 5: 1972. Pp. D133-D140.
[0010716]1304.Fleming, A.: On a remarkable bacteriolytic element found in tissues and secretions. Proc. Roy. Soc. Ser. B. 93: 306-317, 1922.
[0010717]1305.Fleming, A.; Allison, V. D.: Observations on a bacteriolytic substance ('lysozyme') found in secretions and tissues. Brit. J. Exp. Path. 3: 252-260, 1922.
[0010718]1306.Greenwald, R. A.; Cantor, J. O.; Prieur, D. J.; Young, D. M.: Composition of cartilage from lysozyme-deficient rabbits. Biochim. Biophys. Acta 385: 435-437, 1975.
[0010719]1307.Neufeld, E. L.: Personal Communication. Bethesda, Maryland 1972.
[0010720]1308.Pepys, M. B.; Hawkins, P. N.; Booth, D. R.; Vigushin, D. M.; Tennent, G. A.; Soutar, A. K.; Totty, N.; Nguyen, O.; Blake, C. C. F.; Terry, C. J.; Feest, T. G.; Zalin, A. M.; Hsuan, J. J.: Human lysozyme gene mutations cause hereditary systemic amyloidosis. Nature 362: 553-557, 1993.
[0010721]1309.Peters, C. W. B.; Kruse, U.; Pollwein, R.; Grzeschik, K.-H.; Sippel, A. E.: The human lysozyme gene: sequence organization and chromosomal localization. (Abstract) Cytogenet. Cell Genet. 51: 1059 only, 1989.
[0010722]1310.Prieur, D. J.: Personal Communication. Pullman, Washington 5/13/1975.
[0010723]1311.Prieur, D. J.; Olson, H. M.; Young, D. M.: Lysozyme deficiency--an inherited disorder of rabbits. Am. J. Path. 77: 283-296, 1974.
[0010724]1312.Spitznagel, J. K.; Cooper, M. R.; McCall, A. E.; DeChatelet, L. R.; Welsh, I. R.: Selective deficiency of granules associated with lysozyme and lactoferrin in human polymorphs (PMN) with reduced microbicidal capacity. (Abstract) J. Clin. Invest. 51: 93A only, 1972.
[0010725]1313.Ku, C. C.; Murakami, M.; Sakamoto, A.; Kappler, J.; Marrack, P. : Control of homeostasis of CD8+ memory T cells by opposing cytokines. Science 288: 675-678, 2000.
[0010726]1314.Leonard, W. J.; Donlon, T. A.; Lebo, R. V.; Greene, W. C.: Localization of the gene encoding the human interleukin-2 receptor on chromosome 10. Science 228: 1547-1549, 1985.
[0010727]1315.Webb, G. C.; Campbell, H. D.; Lee, J. S.; Young, I. G.: Mapping the gene for murine Tcell growth factor, Il-2, to bands B-C on chromosome 3 and for the alpha chain of the IL2-receptor, Il-2ra, to bands A2-A3 on chromosome 2. Cytogenet. Cell Genet. 54: 164-168, 1990.
[0010728]1316.Du, X.; Williams, D. A.: Interleukin-11: review of molecular, cell biology, and clinical use. Blood 89: 3897-3908, 1997.
[0010729]1317.Du, X. X.; Williams, D. A.: Interleukin-11: a multifunctional growth factor derived from the hematopoietic microenvironment. Blood 83: 2023-2030, 1994.
[0010730]1318.McKinley, D.; Wu, Q.; Yang-Feng, T.; Yang, Y.-C.: Genomic sequence and chromosomal location of human interleukin-11 gene (IL11). Genomics 13: 814-819, 1992.
[0010731]1319.Paul, S. R.; Bennett, F.; Calvetti, J. A.; Kelleher, K.; Wood, C. R.; O'Hara, R. M., Jr.; Leary, A. C.; Sibley, B.; Clark, S. C.; Williams, D. A.; Yang, Y.-C.: Molecular cloning of a cDNA encoding interleukin 11, a stromal cell-derived lymphopoietic and hematopoietic cytokine. Proc. Nat. Acad. Sci. 87: 7512-7516, 1990.
[0010732]1320.Yang-Feng, T. L.; Gibson, L.; Yang, Y. C.: Assignment of the gene encoding human interleukin-11 to chromosome 19q13.3-q13.4. (Abstract) Cytogenet. Cell Genet. 58: 2027 only, 1991.
[0010733]1321.Grunig, G.; Warnock, M.; Wakil, A. E.; Venkayya, R.; Brombacher, F.; Rennick, D. M.; Sheppard, D.; Mohrs, M.; Donaldson, D. D.; Locksley, R. M.; Corry, D. B. Requirement for IL-13 independently of IL-4 in experimental asthma. Science 282: 2261-2263, 1998.
[0010734]1322.Heinzmann, H.; Mao, X.-Q.; Akaiwa, M.; Kreomer, R. T.; Gao, P.-S.; Ohshima, K.; Umeshita, R.; Abe, Y.; Braun, S.; Yamashita, T.; Roberts, M. H.; Sugimoto, R.; and 20 others: Genetic variants of IL-13 signalling and human asthma and atopy. Hum. Molec. Genet. 9: 549-559, 2000.
[0010735]1323.Howard, T. D.; Koppelman, G. H.; Xu, J.; Zheng, S. L.; Postma, D. S.; Meyers, D. A.; Bleecker, E. R.: Gene-gene interaction in asthma: IL4RA and IL13 in a Dutch population with asthma. Am. J. Hum. Genet. 70: 230-236, 2002.
[0010736]1324.Howard, T. D.; Whittaker, P. A.; Zaiman, A. L.; Koppelman, G. H.; Xu, J.; Hanley, M. T.; Meyers, D. A.; Postma, D. S.; Bleecker, E. R.: Identification and association of polymorphisms in the interleukin-13 gene with asthma and atopy in a Dutch population. Am. J. Resp. Cell Molec. Biol. 25: 377-384, 2001.
[0010737]1325.Kuperman, D. A.; Huang, X.; Koth, L. L.; Chang, G. H.; Dolganov, G. M.; Zhu, Z.; Elias, J. A.; Sheppard, D.; Erle, D. J.: Direct effects of interleukin-13 on epithelial cells cause airway hyperreactivity and mucus overproduction in asthma. Nature Med. 8: 885-889, 2002.
[0010738]1326.Burshtyn, D. N.; Scharenberg, A. M.; Wagtmann, N.; Rajagopalan, S.; Berrada, K.; Yi, T.; Kinet, J.-P.; Long, E. O.: Recruitment of tyrosine phosphatase HCP by the killer cell inhibitor receptor. Immunity 4: 77-85, 1996.
[0010739]1327.Dean, F. B.; Lian, L.; O'Donnell, M.: cDNA cloning and gene mapping of human homologs for Schizosaccharomyces pombe rad17, rad1, and hus1 and cloning of homologs from mouse, Caenorhabditis elegans, and Drosophila melanogaster. Genomics 54: 424-436, 1998.
[0010740]1328.Macdonald, D. H. C.; Lahiri, D.; Sampath, A.; Chase, A.; Sohal, J.; Cross, N. C. P.: Cloning and characterization of RNF6, a novel RING finger gene mapping to 13q12. Genomics 58: 94-97, 1999.
[0010741]1329.Strobel, M. C.; Seperack, P. K.; Copeland, N. G.; Jenkins, N. A.: Molecular analysis of two mouse dilute locus deletion mutations: spontaneous dilute lethal-20J and radiation-induced dilute prenatal lethal Aa2 alleles. Molec. Cell. Biol. 10: 501-509, 1990.
[0010742]1330.Tanaka, H.; Homma, K.; Iwane, A. H.; Katayama, E.; Ikebe, R.; Saito, J.; Yanagida, T.; Ikebe, M.: The motor domain determines the large step of myosin-V. Nature 415: 192-195, 2002.
[0010743]1331.Walker, M. L.; Burgess, S. A.; Sellers, J. R.; Wang, F.; Hammer, J. A., III; Trinick, J.; Knight, P. J.: Two-headed binding of a processive myosin to F-actin. Nature 405: 804-807, 2000.
[0010744]1332.Yanagida, T.; Iwane, A. H.: A large step for myosin. Proc. Nat. Acad. Sci. 97: 9357-9359, 2000.
[0010745]1333.Poetter, K.; Jiang, H.; Hassanzadeh, S.; Master, S. R.; Chang, A.; Dalakas, M. C.; Rayment, I.; Sellers, J. R.; Fananapazir, L.; Epstein, N. D.: Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle. Nature Genet. 13: 63-69, 1996.
[0010746]1334.Darras, B. T.; Fodor, B.; Vanin, E.; Francke, U.: A human myosin alkali light chain gene mapped to chromosome 3. (Abstract) Cytogenet. Cell Genet. 46: 603, 1987.
[0010747]1335.Fodor, W. L.; Darras, B.; Seharaseyon, J.; Falkenthal, S.; Francke, U.; Vanin, E. F.: Human ventricular/slow twitch myosin alkali light chain gene characterization, sequence, and chromosomal location. J. Biol. Chem. 264: 2143-2149, 1989.
[0010748]1336.Ho, G.; Chisholm, R. L.: Substitution mutations in the myosin essential light chain lead to reduced actin-activated ATPase activity despite stoichiometric binding to the heavy chain. J. Biol. Chem. 272: 4522-4527, 1997.
[0010749]1337.Hoffmann, E.; Shi, Q. W.; Floroff, M.; Mickle, D. A. G.; Wu, T.-W.; Olley, P. M.; Jackowski, G.: Molecular cloning and complete nucleotide sequence of a human ventricular myosin light chain 1. Nucleic Acids Res. 16: 2353, 1988.
[0010750]1338.Laugwitz, K.-L.; Moretti, A.; Weig, H.-J.; Gillitzer, A.; Pinkernell, K.; Ott, T.; Pragst, I.; Stadele, C.; Seyfarth, M.; Schomig, A.; Ungerer, M.: Blocking caspase-activated apoptosis improves contractility in failing myocardium. Human Gene Ther. 12: 2051-2063, 2001.
[0010751]1339.Moretti, A.; Weig, H.-J.; Ott, T.; Seyfarth, M.; Holthoff, H.-P.; Grewe, D.; Gillitzer, A.; Bott-Flugel, L.; Schomig, A.; Ungerer, M.; Laugwitz, K.-L.: Essential myosin light chain as a target for caspase-3 in failing myocardium. Proc. Nat. Acad. Sci. 99: 11860-11865, 2002.
[0010752]1340.Olson, T. M.; Karst, M. L.; Whitby, F. G.; Driscoll, D. J.: Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology. Circulation 105: 2337-2340, 2002.
[0010753]1341.Weber, F. E.; Vaughan, K. T.; Reinach, F. C.; Fischman, D. A.: Complete sequence of human fast-type and slow-type muscle myosin-binding-protein C (MyBP-C): differential expression, conserved domain structure and chromosome assignment. Europ. J. Biochem. 216: 661-669, 1993.
[0010754]1342.Pujana, M. A.; Corral, J.; Gratacos, M.; Combarros, O.; Berciano, J.; Genis, D.; Banchs, I.; Estivill, X.; Volpini, V.; Ataxia Study Group: Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases. Hum. Genet. 104: 516-522, 1999.
[0010755]1343.Ramesar, R. S.; Bardien, S.; Beighton, P.; Bryer, A.: Expanded CAG repeats in spinocerebellar ataxia (SCA1) segregate with distinct haplotypes in South African families. Hum. Genet. 100: 131-137, 1997.
[0010756]1344.Ranum, L. P. W.; Chung, M.; Banfi, S.; Bryer, A.; Schut, L. J.; Ramesar, R.; Duvick, L. A.; McCall, A.; Subramony, S. H.; Goldfarb, L.; Gomez, C.; Sandkuijl, L. A.; Orr, H. T.; Zoghbi, H. Y.: Molecular and clinical correlations in spinocerebellar ataxia type I: evidence for familial effects on the age at onset. Am. J. Hum. Genet. 55: 244-252, 1994.
[0010757]1345.Ranum, L. P. W.; Lundgren, J. K.; Schut, L. J.; Ahrens, M. J.; Perlman, S.; Aita, J.; Bird, T. D.; Gomez, C.; Orr, H. T.: Spinocerebellar ataxia type 1 and Machado-Joseph disease: incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia. Am. J. Hum. Genet. 57: 603-608, 1995.
[0010758]1346.Servadio, A.; Koshy, B.; Armstrong, D.; Antalffy, B.; Orr, H. T.; Zoghbi, H. Y.: Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals. Nature Genet. 10: 94-98, 1995.
[0010759]1347.Storey, E.; du Sart, D.; Shaw, J. H.; Lorentzos, P.; Kelly, L.; Gardner, R. J. M.; Forrest, S. M.; Biros, I.; Nicholson, G. A.: Frequency of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Australian patients with spinocerebellar ataxia. Am. J. Med. Genet. 95: 351-357, 2000.
[0010760]1348.Suzuki, Y.; Sasaki, H.; Wakisaka, A.; Takada, A.; Yoshiki, T.; Iwabuchi, K.; Tashiro, K.; Fukazawa, T.; Hamada, T.: Spinocerebellar ataxia 1 (SCA1) in the Japanese: analysis of CAG trinucleitide (sic) repeat expansion and instability of the repeat for paternal transmission. Jpn. J. Hum. Genet. 40: 131-143, 1995.
[0010761]1349.Volz, A.; Boyle, J. M.; Cann, H. M.; Cottingham, R. W.; Orr, H. T.; Ziegler, A.: Report of the second international workshop on human chromosome 6. Genomics 21: 464, 1994.
[0010762]1350.Wakisaka, A.; Sasaki, H.; Takada, A.; Fukazawa, T.; Suzuki, Y.; Hamada, T.; Iwabuchi, K.; Tashiro, K.; Yoshiki, T.: Spinocerebellar ataxia 1 (SCA1) in the Japanese in Hokkaido may derive from a single common ancestry. J. Med. Genet. 32: 590-592, 1995.
[0010763]1351.Wang, S.; Detera-Wadleigh, S. D.; Coon, H.; Sun, C.; Goldin, L. R.; Duffy, D. L.; Byerley, W. F.; Gershon, E. S.; Diehl, S. R.: Evidence of linkage disequilibrium between schizophrenia and the SCA1 CAG repeat on chromosome 6p23. (Letter) Am. J. Hum. Genet. 59: 731-736, 1996.
[0010764]1352.Dionne, C. A.; Kaplan, R.; Seuanez, H.; O'Brien, S. J.; Jaye, M. : Chromosome assignment by polymerase chain reaction techniques: assignment of the oncogene FGF-5 to human chromosome 4. Biotechniques 8: 190-194, 1990.
[0010765]1353.Hebert, J. M.; Rosenquist, T.; Gotz, J.; Martin, G. R.: FGF5 as a regulator of the hair growth cycle: evidence from targeted and spontaneous mutations. Cell 78: 1017-1025, 1994.
[0010766]1354.Nguyen, C.; Roux, D.; Mattei, M.-G.; de Lapeyriere, O.; Goldfarb, M.; Birnbaum, D.; Jordan, B. R.: The FGF-related oncogenes hst and int.2, and the bcl.1 locus are contained within one megabase in band q13 of chromosome 11, while the fgf.5 oncogene maps to 4q21. Oncogene 3: 703-708, 1988.
[0010767]1355.Zhan, X.; Bates, B.; Hu, X.; Goldfarb, M.: The human FGF-5 oncogene encodes a novel protein related to fibroblast growth factors. Molec. Cell. Biol. 8: 3487-3495, 1988.
[0010768]1356.Kozak, C. A.; Filie, J.; Adamson, M. C.; Chen, Y.; Yu, L.: Murine chromosomal location of the mu and kappa opioid receptor genes. Genomics 21: 659-661, 1994.
[0010769]1357.Bartoshuk, L. M.; Duffy, V. B.; Miller, I. J.: PTC/PROP tasting: anatomy, psychophysics, and sex effects. Physiol. Behav. 56: 1165-1171, 1994.
[0010770]1358.Chautard-Freire-Maia, E. A.: Linkage relationships between 22 autosomal markers. Ann. Hum. Genet. 38: 191-198, 1974.
[0010771]1359.Conneally, P. M.; Dumont-Driscoll, M.; Huntzinger, R. S.; Nance, W. E.; Jackson, C. E.: Linkage relations of the loci for Kell and phenylthiocarbamide (PTC) taste sensitivity. Hum. Hered. 26: 267-271, 1976.
[0010772]1360.Spence, M. A.; Falk, C. T.; Neiswanger, K.; Field, L. L.; Marazita, M. L.; Allen, F. H., Jr.; Siervogel, R. M.; Roche, A. F.; Crandall, B. F.; Sparkes, R. S.: Estimating the recombination frequency for the PTC-Kell linkage. Hum. Genet. 67: 183-186, 1984.
[0010773]1361.Sadeghi-Nejad, A.; Senior, B.: Autosomal dominant transmission of isolated growth hormone deficiency in iris-dental dysplasia (Rieger's syndrome). J. Pediat. 85: 644-648, 1974.
[0010774]1362.Hing, A. V.; Helms, C.; Slaugh, R.; Burgess, A.; Wang, J. C.; Herman, T.; Dowton, S. B.; Donis-Keller, H.: Linkage of preaxial polydactyly type 2 to 7q36. Am. J. Med. Genet. 58: 128-135, 1995.
[0010775]1363.Kinzler, K. W.; Nilbert, M. C.; Vogelstein, B.; Bryan, T. M.; Levy, D. B.; Smith, K. J.; Preisinger, A. C.; Hamilton, S. R.; Hedge, P.; Markham, A.; Carlson, M.; Joslyn, G.; Groden, J.; White, R.; Miki, Y.; Miyoshi, Y.; Nishisho, I.; Nakamura, Y.: Identification of a gene located at chromosome 5q21 that is mutated in colorectal cancers. Science 251: 1366-1370, 1991.
[0010776]1364.Constantinou, C. D.; Nielsen, K. B.; Prockop, D. J.: A lethal variant of osteogenesis imperfecta has a single base mutation that substitutes cysteine for glycine 904 of the alpha-1(I) chain of type I procollagen: the asymptomatic mother has an unidentified mutation producing an overmodified and unstable type I procollagen. J. Clin. Invest. 83: 574-584, 1989.
[0010777]1365.Laborda, J.; Sausville, E. A.; Hoffman, T.; Notario, V.: dlk, a putative mammalian homeotic gene differentially expressed in small cell lung carcinoma and neuroendocrine tumor cell line. J. Biol. Chem. 268: 3817-3820, 1993.
[0010778]1366.Dryja, T. P.; Rapaport, J.; McGee, T. L.; Nork, T. M.; Schwartz, T. L.: Molecular etiology of low-penetrance retinoblastoma in two pedigrees. Am. J. Hum. Genet. 52: 1122-1128, 1993.
[0010779]1367.Dryja, T. P.; Rapaport, J. M.; Joyce, J. M.; Petersen, R. A.: Molecular detection of deletions involving band q14 of chromosome 13 in retinoblastomas. Proc. Nat. Acad. Sci. 83: 7391-7394, 1986.
[0010780]1368.Dryja, T. P.; Rapaport, J. M.; Weichselbaum, R.; Bruns, G. A. P.: Chromosome 13 restriction fragment length polymorphisms. Hum. Genet. 65: 320-324, 1984.
[0010781]1369.Duane, T. B.: Clinical Ophthalmology. Hagerstown: Harper and Row (pub.) 3: 1980. Pp. 13 only.
[0010782]1370.Duncan, A. M. V.; Morgan, C.; Gallie, B. L.; Phillips, R. A.; Squire, J.: Re-evaluation of the sublocalization of esterase D and its relation to the retinoblastoma locus by in situ hybridization. Cytogenet. Cell Genet. 44: 153-157, 1987.
[0010783]1371.Dunn, J. M.; Phillips, R. A.; Becker, A. J.; Gallie, B. L.: Identification of germline and somatic mutations affecting the retinoblastoma gene. Science 241: 1797-1800, 1988.
[0010784]1372.Dunn, J. M.; Phillips, R. A.; Zhu, X.; Becker, A.; Gallie, B. L.: Mutations in the RB1 gene and their effects on transcription. Molec. Cell. Biol. 9: 4596-4604, 1989.
[0010785]1373.Ejima, Y.; Sasaki, M. S.; Kaneko, A.; Tanooka, H.: Types, rates, origin and expressivity of chromosome mutations involving 13q14 in retinoblastoma patients. Hum. Genet. 79: 118-123, 1988.
[0010786]1374.Ejima, Y.; Sasaki, M. S.; Kaneko, A.; Tanooka, H.; Hara, Y.; Hida, T.; Kinoshita, Y.: Possible inactivation of part of chromosome 13 due to 13qXp translocation associated with retinoblastoma. Clin. Genet. 21: 357-361, 1982.
[0010787]1375.Eldridge, R.; O'Meara, K.; Kitchin, D.: Superior intelligence in sighted retinoblastoma patients and their families. J. Med. Genet. 9: 331-335, 1972.
[0010788]1376.Falls, H. F.; Neel, J. V.: Genetics of retinoblastoma. Arch. Ophthal. 46: 367-389, 1951.
[0010789]1377.Fitzgerald, P. H.; Stewart, J.; Suckling, R. D.: Retinoblastoma mutation rate in New Zealand and support for the two-hit model. Hum. Genet. 64: 128-130, 1983.
[0010790]1378.Francke, U.: Retinoblastoma and chromosome 13. Cytogenet. Cell Genet. 14: 131-134, 1976.
[0010791]1379.Francois, J.: Retinoblastoma and osteogenic sarcoma. Ophthalmologica 175: 185-191, 1977.
[0010792]1380.Francois, J.: Hereditary malignant tumor of the eye. Congenital Anomalies of The Eye. St. Louis: C. V. Mosby Co. (pub.) 1968. Pp. 205-246.
[0010793]1381.Francois, J.; Matton, M. T.; De Bie, S.; Tanaka, Y.; Vandenbulcke, D.: Genesis and genetics of retinoblastoma. Ophthalmologica 170: 405-425, 1975.
[0010794]1382.Friend, S. H.; Bernards, R.; Rogelj, S.; Weinberg, R. A.; Rapaport, J. M.; Albert, D. M.; Dryja, T. P.: A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature 323: 643-646, 1986.
[0010795]1383.Friend, S. H.; Dryja, T. P.; Weinberg, R. A.: Oncogenes and tumor-suppressing genes. New Eng. J. Med. 318: 618-622, 1988.
[0010796]1384.Friend, S. H.; Horowitz, J. M.; Gerber, M. R.; Wang, X.-F.; Bogenmann, E.; Li, F. P.; Weinberg, R. A.: Deletions of a DNA sequence in retinoblastomas and mesenchymal tumors: organization of the sequence and its encoded protein. Proc. Nat. Acad. Sci. 84: 9059-9063, 1987. Note: Correction: Proc. Nat. Acad. Sci. 85: 2234 only, 1988..
[0010797]1385.Fukushima, Y.; Kuroki, Y.; Ito, T.; Kondo, I.; Nishigaki, I.: Familial retinoblastoma (mother and son) with 13q14 deletion. Hum. Genet. 77: 104-107, 1987.
[0010798]1386.Fung, Y.-K. T.; Murphree, A. L.; T'Ang, A.; Qian, J.; Hinrichs, S. H.; Benedict, W. F.: Structural evidence for the authenticity of the human retinoblastoma gene. Science 236: 1657-1661, 1987.
[0010799]1387.Gallie, B. L.: Predictive testing for retinoblastoma comes of age. (Editorial) Am. J. Hum. Genet. 61: 279-281, 1997.
[0010800]1388.Gallie, B. L.; Ellsworth, R. M.; Abramson, D. M.; Phillips, R. A.: Retinoma: spontaneous regression of retinoblastoma or benign manifestation of the mutation? Brit. J. Cancer 45: 513-521, 1982.
[0010801]1389.Gallie, B. L.; Phillips, R. A.: Multiple manifestations of the retinoblastoma gene. Birth Defects Orig. Art. Ser. 18(6): 689-701, 1982.
[0010802]1390.Garcia-Cao, M.; Gonzalo, S.; Dean, D.; Blasco, M. A.: A role for the Rb family of proteins in controlling telomere length. Nature Genet. 15Oct.: , 2002. Note: Advance Electronic Publication.
[0010803]1391.Gey, W.: Dq-, multiple Missbildungen und Retinoblastom. Humangenetik 10: 362-365, 1970.
[0010804]1392.Cotton, R. G. H.; Rodrigues, N. R.; Campbell, R. D.: Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations. Proc. Nat. Acad. Sci. 85: 4397-4401, 1988.
[0010805]1393.Huang, Y. Z.; Wang, Q.; Xiong, W. C.; Mei, L.: Erbin is a protein concentrated at postsynaptic membranes that interacts with PSD-95. J. Biol. Chem. 276: 19318-19326, 2001.
[0010806]1394.Aalto-Setala, K.; Helve, E.; Kovanen, P. T.; Kontula, K.: Finnish type of low density lipoprotein receptor gene mutation (FH-Helsinki) deletes exons encoding the carboxy-terminal part of the receptor and creates an internalization-defective phenotype. J. Clin. Invest. 84: 499-505, 1989.
[0010807]1395.Aalto-Setala, K.; Koivisto, U.-M.; Miettinen, T. A.; Gylling, H.; Kesaniemi, Y. A.; Savolainen, M.; Pyorala, K.; Ebeling, T.; Mononen, I.; Turtola, H.; Viikari, J.; Kontula, K.: Prevalence and geographical distribution of major LDL receptor gene rearrangements in Finland. J. Intern. Med. 231: 227-234, 1992.
[0010808]1396.Karibe, A.; Tobacman, L. S.; Strand, J.; Butters, C.; Back, N.; Bachinski, L. L.; Arai, A. E.; Ortiz, A.; Roberts, R.; Homsher, E.; Fananapazir, L.: Hypertrophic cardiomyopathy caused by a novel alpha-tropomyosin mutation (V95A) is associated with mild cardiac phenotype, abnormal calcium binding to troponin, abnormal myosin cycling, and poor prognosis. Circulation 103: 65-71, 2001.
[0010809]1397.Nordenskjold, A.; Ivarsson, S.-A.: Molecular characterization of 5-alpha-reductase type 2 deficiency and fertility in a Swedish family. J. Clin. Endocr. Metab. 83: 3236-3238, 1998.
[0010810]1398.Nordenskjold, A.; Magnus, O.; Aagenaes, O.; Knudtzon, J.: Homozygous mutation (A228T) in the 5-alpha-reductase type 2 gene in a boy with 5-alpha-reductase deficiency: genotypephenotype correlations. Am. J. Med. Genet. 80: 269-272, 1998.
[0010811]1399.Opitz, J. M.; Simpson, J. L.; Sarto, G. E.; Summitt, R. L.; New, M.; German, J.: Pseudovaginal perineoscrotal hypospadias. Clin. Genet. 3: 1-26, 1972.
[0010812]1400.Peterson, R. E.; Imperato-McGinley, J.; Gautier, T.; Sturla, E. : Male pseudohermaphroditism due to steroid 5-alpha-reductase deficiency. Am. J. Med. 62: 170-191, 1977.
[0010813]1401.Pinsky, L.; Kaufman, M.; Straisfeld, C.; Zilahi, B.; Hall, C. S.-G.: 5-Alpha-reductase activity of genital and nongenital skin fibroblasts from patients with 5-alpha-reductase deficiency, androgen insensitivity, or unknown forms of pseudohermaphroditism. Am. J. Med. Genet. 1: 407-416, 1978.
[0010814]1402.Price, P.; Wass, J. A. H.; Griffin, J. E.; Leshin, M.; Savage, M. O.; Large, D. M.; Bu'Lock, D. E.; Anderson, D. C.; Wilson, J. D.; Besser, G. M.: High dose androgen therapy in male pseudohermaphroditism due to 5-alpha-reductase deficiency and disorders of the androgen receptor. J. Clin. Invest. 74: 1496-1508, 1984.
[0010815]1403.Savage, M. O.; Preece, M. A.; Jeffcoate, S. L.; Ransley, P. G.; Rumsby, G.; Mansfield, M. D.; Williams, D. I.: Familial male pseudohermaphroditism due to deficiency of 5-alpha-reductase. Clin. Endocr. 12: 397-406, 1980.
[0010816]1404.Simpson, J. L.; New, M.; Peterson, R. E.; German, J.: Pseudovaginal perineoscrotal hypospadias (PPSH) in sibs. Birth Defects Orig. Art. Ser. VII(6): 140-144, 1971.
[0010817]1405.Soderstrom, T. G.; Bjelfman, C.; Brekkan, E.; Ask, B.; Egevad, L.; Norlen, B. J.; Rane, A.: Messenger ribonucleic acid levels of steroid 5-alpha-reductase 2 in human prostate predict the enzyme activity. J. Clin. Endocr. Metab. 86: 855-858, 2001.
[0010818]1406.Thigpen, A. E.; Davis, D. L.; Gautier, T.; Imperato-McGinley, J.; Russell, D. W.: The molecular basis of steroid 5-alpha-reductase deficiency in a large Dominican kindred. New Eng. J. Med. 327: 1216-1219, 1992.
[0010819]1407.Thigpen, A. E.; Davis, D. L.; Milatovich, A.; Mendonca, B. B.; Imperato-McGinley, J.; Griffin, J. E.; Francke, U.; Wilson, J. D.; Russell, D. W.: The molecular genetics of steroid 5-alphareductase 2 deficiency. J. Clin. Invest. 90: 799-809, 1992.
[0010820]1408.Vilchis, F.; Canto, P.; Chavez, B.; Ulloa-Aguirre, A.; Mendez, J. P.: Molecular analysis of the 5-alpha-steroid reductase type 2 gene in a family with deficiency of the enzyme. Am. J. Med. Genet. 69: 69-72, 1997.
[0010821]1409.Walsh, P. C.; Madden, J. D.; Harrod, M. J.; Goldstein, J. L.; MacDonald, P. C.; Wilson, J. D.: Familial incomplete male pseudohermaphroditism, type 2: decreased dihydrotestosterone formation in pseudovaginal perineoscrotal hypospadias. New Eng. J. Med. 291: 944-949, 1974.
[0010822]1410.Wilson, J. D.: Personal Communication. Dallas, Texas 10/30/1981.
[0010823]1411.Wilson, J. D.; Harrod, M. J.; Goldstein, J. L.; Hemsell, D. L.; MacDonald, P. C.: Familial incomplete male pseudohermaphroditism type I: evidence for androgen resistance in a family with the Reifenstein syndrome. New Eng. J. Med. 290: 1097-1103, 1974.
[0010824]1412.Albright, F.; Butler, A. M.; Bloomberg, E.: Rickets resistant to vitamin D therapy. Am. J. Dis. Child. 54: 529-547, 1937.
[0010825]1413.Bouchard, G.; Laberge, C.; Scriver, C. R.: La tyrosinemie hereditaire et le rachitisme vitamino-dependant au Saguenay. Un. Med. Canada 114: 633-636, 1985.
[0010826]1414.Brenza, H. L.; Kimmel-Jehan, C.; Jehan, F.; Shinki, T.; Wakino, S.; Anazawa, H.; Suda, T.; DeLuca, H. F.: Parathyroid hormone activation of the 25-hydroxyvitamin D3-1-alpha-hydroxylase gene promoter. Proc. Nat. Acad. Sci. 95: 1387-1391, 1998.
[0010827]1415.Delvin, E. E.; Glorieux, F. H.; Marie, P. J.; Pettifor, J. M.: Vitamin D dependency: replacement therapy with calcitriol. J. Pediat. 99: 26-34, 1981.
[0010828]1416.Dent, C. E.; Friedman, M.; Watson, L.: Hereditary pseudo-vitamin D deficiency rickets ('pseudo-mangelrachitis'). J. Bone Joint Surg. 50B: 708-719, 1968.
[0010829]1417.Diaz, L.; Sanchez, I.; Avila, E.; Halhali, A.; Vilchis, F.; Larrea, F.: Identification of a 25-hydroxyvitamin D3 1-alpha-hydroxylase gene transcription product in cultures of human syncytiotrophoblast cells. J. Clin. Endocr. Metab. 85: 2543-2549, 2000.
[0010830]1418.Fraser, D.; Kooh, S. W.; Kind, H. P.; Holick, M. F.; Tanaka, Y.; DeLuca, H. F.: Pathogenesis of hereditary vitamin-D-dependent rickets. An inborn error of vitamin D metabolism involving defective conversion of 25-hydroxyvitamin D to 1-alpha, 25-dihydroxyvitamin D. New Eng. J. Med. 289: 817-822, 1973.
[0010831]1419.Fraser, D.; Salter, R. B.: The diagnosis and management of the various types of rickets. Pediat. Clin. N. Am. 5: 417-441, 1958.
[0010832]1420.Lachmann, P. J.; Hobart, M. J.; Woo, P.: Combined genetic deficiency of C6 and C7 in man. Clin. Exp. Immun. 33: 193-203, 1978.
[0010833]1421.Whitehouse, D. B.: Genetic polymorphism and linkage of the sixth and seventh complement components (C6 and C7) in the common marmoset. Biochem. Genet. 22: 51-63, 1984.
[0010834]1422.Adams, E. M.; Hustead, S.; Rubin, P.; Wagner, R.; Gewurz, A.; Graziano, F. M.: Absence of the seventh component of complement in a patient with chronic meningococcemia presenting as vasculitis. Ann. Intern. Med. 99: 35-38, 1983.
[0010835]1423.Boyer, J. T.; Gall, E. P.; Norman, M. E.; Nilsson, U. R.; Zimmerman, T. S.: Hereditary deficiency of the seventh component of complement. J. Clin. Invest. 56: 905-913, 1975.
[0010836]1424.Clough, J. D.; Clough, M. L.; Weinstein, A.; Calabrese, L. H.; Mansfield, L. R.; Gulick, P.; Gavin, T.; Braun, W. E.: Familial late complement component (C6, C7) deficiency with chronic meningococcemia. Arch. Intern. Med. 140: 929-933, 1980.
[0010837]1425.Coto, E.; Martinez-Naves, E.; Dominguez, O.; Lopez-Larrea, C.: DNA polymorphism of the human complement component C7 gene in familial deficiencies. Hum. Genet. 85: 251-252, 1990.
[0010838]1426.Delage, J. M.; Bergeron, P.; Simard, J.; Lehner-Netsch, G.; Prochazka, E.: Hereditary C7 deficiency: diagnosis and HLA studies in a French-Canadian family. J. Clin. Invest. 60: 1061-1069, 1977.
[0010839]1427.Egan, L. J.; Orren, A.; Doherty, J.; Wurzner, R.; McCarthy, C. F.: Hereditary deficiency of the seventh component of complement and recurrent meningococcal infection: investigations of an Irish family using a novel haemolytic screening assay for complement activity and C7 M/N allotyping. Epidemiol. Infect. 113: 275-281, 1994.
[0010840]1428.Eldridge, P. R.; Hobart, M. J.; Lachmann, P. J.: The genetics of the sixth and seventh components of complement in the dog: polymorphism, linkage, locus duplication, and silent alleles. Biochem. Genet. 21: 81-91, 1983.
[0010841]1429.Fernie, B. A.; Hobart, M. J.: Complement C7 deficiency: seven further molecular defects and their associated marker haplotypes. Hum. Genet. 103: 513-519, 1998.
[0010842]1430.Fernie, B. A.; Orren, A.; Sheehan, G.; Schlesinger, M.; Hobart, M. J.: Molecular bases of C7 deficiency: three different defects. J. Immun. 159: 1019-1026, 1997.
[0010843]1431.Wong, K.; Ren, X.-R.; Huang, Y.-Z.; Xie, Y.; Liu, G.; Saito, H.; Tang, H.; Wen, L.; Brady-Kalnay, S. M.; Mei, L.; Wu, J. Y.; Xiong, W.-C.; Rao, Y.: Signal transduction in neuronal migration: roles of GTPase activating proteins and the small GTPase Cdc42 in the Slit-Robo pathway. Cell 107: 209-221, 2001.
[0010844]1432.Matesic, L. E.; Yip, R.; Reuss, A. E.; Swing, D. A.; O'Sullivan, T. N.; Fletcher, C. F.; Copeland, N. G.; Jenkins, N. A.: Mutations in Mlph, encoding a member of the Rab effector family, cause the melanosome transport defects observed in leaden mice. Proc. Nat. Acad. Sci. 98: 10238-10243, 2001.
[0010845]1433.Silvers, W. K.: The Coat Colors of Mice. New York: Springer , 1979.
[0010846]1434.Gardner, H. P.; Wertheim, G. B. W.; Ha, S. I.; Copeland, N. G.; Gilbert, D. J.; Jenkins, N. A.; Marquis, S. T.; Chodosh, L. A.: Cloning and characterization of Hunk, a novel mammalian SNF1-related protein kinase. Genomics 63: 46-59, 2000.
[0010847]1435.Juwana, J.-P.; Henderikx, P.; Mischo, A.; Wadle, A.; Fadle, N.; Gerlach, K.; Arends, J. W.; Hoogenboom, H.; Pfreundschuh, M.; Renner, C.: EB/RP gene family encodes tubulin binding proteins. Int. J. Cancer 81: 275-284, 1999.
[0010848]1436.Renner, C.; Pfitzenmeier, J.-P.; Gerlach, K.; Held, G.; Ohnesorge, S.; Sahin, U.; Bauer, S.; Pfreundschuh, M.: RP1, a new member of the adenomatous polyposis coli-binding EB1-like gene family, is differently expressed in activated T cells. J. Immun. 159: 1276-1283, 1997.
[0010849]1437.Wadle, A.; Thiel, G.; Mischo, A.; Jung, V.; Pfreundschuh, M.; Renner, C.: Chromosomal localization and promoter analysis of the adenomatous polyposis coli binding protein RP1. Oncogene 20: 5920-5929, 2001.
[0010850]1438.Iwasaki, K.; Toyonaga, R.: The Rab3 GDP/GTP exchange factor homolog AEX-3 has a dual function in synaptic transmission. EMBO J. 19: 4806-4816, 2000.
[0010851]1439.Awasthi, S.; Cheng, J.; Singhal, S. S.; Saini, M. K.; Pandya, U.; Pikula, S.; Bandorowicz-Pikula, J.; Singh, S. V.; Zimniak, P.; Awasthi, Y. C.: Novel function of human RLIP76: ATP-dependent transport of glutathione conjugates and doxorubicin. Biochemistry 39: 9327-9334, 2000.
[0010852]1440.Jullien-Flores, V.; Dorseuil, O.; Romero, R.; Letourneur, F.; Saragosti, S.; Berger, R.; Tavitian, A.; Gacon, G.; Camonis, J. H.: Bridging Ral GTPase to Rho pathways: RLIP76, a Ral effector with CDC42/Rac GTPase-activating protein activity. J. Biol. Chem. 270: 22473-22477, 1995.
[0010853]1441.Cacheux, V.; Dastot-Le Moal, F.; Kaariainen, H.; Bondurand, N.; Rintala, R.; Boissier, B.; Wilson, M.; Mowat, D.; Goossens, M.: Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease. Hum. Molec. Genet. 10: 1503-1510, 2001.
[0010854]1442.Comijn, J.; Berx, G.; Vermassen, P.; Verschueren, K.; van Grunsven, L.; Bruyneel, E.; Mareel, M.; Huylebroeck, D.; van Roy, F.: The two-handed E box binding zinc finger protein SIP1 downregulates E-cadherin and induces invasion. Molec. Cell 7: 1267-1278, 2001.
[0010855]1443.Remacle, J. E.; Kraft, H.; Lerchner, W.; Wuytens, G.; Collart, C.; Verschueren, K.; Smith, J. C.; Huylebroeck, D.: New mode of DNA binding of multi-zinc finger transcription factors: deltaEF1 family members bind with two hands to two target sites. EMBO J. 18: 5073-5084, 1999.
[0010856]1444.Verschueren, K.; Remacle, J. E.; Collart, C.; Kraft, H.; Baker, B. S.; Tylzanowski, P.; Nelles, L.; Wuytens, G.; Su, M.-T.; Bodmer, R.; Smith, J. C.; Huylebroeck, D.: SIP1, a novel zing finger/homeodomain repressor, interacts with Smad proteins and binds to 5-prime-CACCT sequences in candidate target genes. J. Biol. Chem. 274: 20489-20498, 1999.
[0010857]1445.Mas, C.; Bourgeois, F.; Bulfone, A.; Levacher, B.; Mugnier, C.; Simonneau, M.: Cloning and expression analysis of a novel gene, RP42, mapping to an autism susceptibility locus on 6q16. Genomics 65: 70-74, 2000.
[0010858]1446.Faulkner, G.; Pallavicini, A.; Formentin, E.; Comelli, A.; Ievolella, C.; Trevisan, S.; Bortoletto, G.; Scannapieco, P.; Salamon, M.; Mouly, V.; Valle, G.; Lanfranchi, G.: ZASP: a new Z-band alternatively spliced PDZ-motif protein. J. Cell Biol. 146: 465-475, 1999.
[0010859]1447.Zhou, Q.; Ruiz-Lozano, P.; Martone, M. E.; Chen, J.: Cypher, a striated musclerestricted PDZ and LIM domain-containing protein, binds to alpha-actinin-2 and protein kinase C. J. Biol. Chem. 274: 19807-19813, 1999.
[0010860]1448.Ben-Zeev, B.; Levy-Nissenbaum, E.; Lahat, H.; Anikster, Y.; Shinar, Y.; Brand, N.; Gross-Tzur, V.; MacGregor, D.; Sidi, R.; Kleta, R.; Frydman, M.; Pras, E.: Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews. Hum. Genet. 111: 214-218, 2002.
[0010861]1449.Leegwater, P. A. J.; Boor, P. K. I.; Yuan, B. Q.; van der Steen, J.; Visser, A.; Konst, A. A. M.; Oudejans, C. B. M.; Schutgens, R. B. H.; Pronk, J. C.; van der Knaap, M. S.: Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts. Hum. Genet. 110: 279-283, 2002.
[0010862]1450.Rowe, P. S. N.; de Zoysa, P. A.; Dong, R.; Wang, H. R.; White, K. E.; Econs, M. J.; Oudet, C. L.: MEPE, a new gene expressed in bone marrow and causing osteomalacia. Genomics 67: 54-68, 2000.
[0010863]1451.Feng, S.-L. Y.; Guo, Y.; Factor, V. M.; Thorgeirsson, S. S.; Bell, D. W.; Testa, J. R.; Peifley, K. A.; Winkles, J. A.: The Fn14 immediate-early response gene is induced during liver regeneration and highly expressed in both human and murine hepatocellular carcinomas. Am. J. Path. 156: 1253-1261, 2000.
[0010864]1452.Meighan-Mantha, R. L.; Hsu, D. K. W.; Guo, Y.; Brown, S. A. N.; Feng, S.-L. Y.; Peifley, K. A.; Alberts, G. F.; Copeland, N. G.; Gilbert, D. J.; Jenkins, N. A.; Richards, C. M.; Winkles, J. A.: The mitogen-inducible Fn14 gene encodes a type I transmembrane protein that modulates fibroblast adhesion and migration. J. Biol. Chem. 274: 33166-33176, 1999.
[0010865]1453.Ikeda, H.; Lethe, B.; Lehmann, F.; van Baren, N.; Baurain, J.-F.; de Smet, C.; Chambost, H.; Vitale, M.; Moretta, A.; Boon, T.; Coulie, P. G.: Characterization of an antigen that is recognized on a melanoma showing partial HLA loss by CTL expressing an NK inhibitory receptor. Immunity 6: 199-208, 1997.
[0010866]1454.van Baren, N.; Chambost, H.; Ferrant, A.; Michaux, L.; Ikeda, H.; Millard, I.; Olive, D.; Boon, T.; Coulie, P. G.: PRAME, a gene encoding an antigen recognized on a human melanoma by cytolytic T cells, is expressed in acute leukaemia cells. Brit. J. Haemat. 102: 1376-1379, 1998.
[0010867]1455.Burgener, R.; Wolf, M.; Ganz, T.; Baggiolini, M.: Purification and characterization of a major phosphatidylserine-binding phosphoprotein from human platelets. Biochem. J. 269: 729-734, 1990.
[0010868]1456.Gustincich, S.; Schneider, C.: Serum deprivation response gene is induced by serum starvation but not by contact inhibition. Cell Growth Diff. 4: 753-760, 1993.
[0010869]1457.Gustincich, S.; Vatta, P.; Goruppi, S.; Wolf, M.; Saccone, S.; Della Valle, G.; Baggiolini, M.; Schneider, C.: The human serum deprivation response gene (SDPR) maps to 2q32-q33 and codes for a phosphatidylserine-binding protein. Genomics 57: 120-129, 1999.
[0010870]1458.van Eenennaam, H.; Pruijn, G. J. M.; van Venrooij, W. J.: hPop4: a new protein subunit of the human RNase MRP and RNase P ribonucleoprotein complexes. Nucleic Acids Res. 27: 2465-2472, 1999.
[0010871]1459.Eder, P. S.; Kekuda, R.; Stolc, V.; Altman, S.: Characterization of two scleroderma autoimmune antigens that copurify with human ribonuclease P. Proc. Nat. Acad. Sci. 94: 1101-1106, 1997.
[0010872]1460.Huizing, M.; Anikster, Y.; Fitzpatrick, D. L.; Jeong, A. B.; D'Souza, M.; Rausche, M.; Toro, J. R.; Kaiser-Kupfer, M. I.; White, J. G.; Gahl, W. A.: Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency. Am. J. Hum. Genet. 69: 1022-1032, 2001.
[0010873]1461.Suzuki, T.; Li, W.; Zhang, Q.; Novak, E. K.; Sviderskaya, E. V.; Wilson, A.; Bennett, D. C.; Roe, B. A.; Swank, R. T.; Spritz, R. A. : The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human Hermansky-Pudlak syndrome-3 gene. Genomics 78: 30-37, 2001.
[0010874]1462.Bascom, R. A.; Liu, L.; Humphries, P.; Fishman, G. A.; Murray, J. C.; McInnes, R. R.: Polymorphisms and rare sequence variants at the ROM1 locus. Hum. Molec. Genet. 2: 1975-1977, 1993.
[0010875]1463.Clarke, G.; Goldberg, A. F. X.; Vidgen, D.; Collins, L.; Ploder, L.; Schwarz, L.; Molday, L. L.; Rossant, J.; Szel, A.; Molday, R. S.; Birch, D. G.; McInnes, R. R.: Rom-1 is required for rod photoreceptor viability and the regulation of disk morphogenesis. Nature Genet. 25: 67-73, 2000.
[0010876]1464.Kajiwara, K.; Berson, E. L.; Dryja, T. P.: Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science 264: 1604-1608, 1994.
[0010877]1465.Nadeau, J. H.: Personal Communication. Bar Harbor, Me. 10/19/1994.
[0010878]1466.Nathans, J.: Personal Communication. Baltimore, Md. 12/6/1993.
[0010879]1467.Stone, E. M.; Nichols, B. E.; McInnes, R. R.; Bascom, R. A.; Kimura, A. E.; Streb, L. M.; Sheffield, V. C.: The gene for Best's disease (vitelliform macular dystrophy) maps to chromosome 11q13. (Abstract) Am. J. Hum. Genet. 51 (suppl.): A35 only, 1992.
[0010880]1468.Taylor, B. A.; Phillips, S. J.; Bascom, R. A.; McInnes, R. R. : The retinal outer segment membrane protein-1 gene (Rom1) maps to the proximal end of mouse chromosome 19. Genomics 23: 510-511, 1994.
[0010881]1469.Barton, D. E.; Spritz, R. A.; Francke, U.: RPU1 encoding the 68kDa U1 snRNPassociated protein is located on chromosome 19. (Abstract) Cytogenet. Cell Genet. 46: 577 only, 1987.
[0010882]1470.Du, H.; Rosbash, M.: The U1 snRNP protein U1C recognizes the 5-prime splice site in the absence of base pairing. Nature 419: 86-90, 2002.
[0010883]1471.Montzka, K. A.; Steitz, J. A.: Additional low-abundance human small nuclear ribonucleoproteins: U11, U12, etc. Proc. Nat. Acad. Sci. 85: 8885-8889, 1988.
[0010884]1472.Nelissen, R. L.; Sillekens, P. T.; Beijer, R. P.; Geurts van Kessel, A. H.; van Venrooij, W. J.: Structure, chromosomal localization and evolutionary conservation of the gene encoding human U1 snRNP-specific A protein. Gene 102: 189-196, 1991.
[0010885]1473.Spritz, R. A.; Strunk, K.; Surowy, C. S.; Hoch, S. O.; Barton, D. E.; Francke, U.: The human 70-kD SnRNP protein: cDNA cloning, chromosomal localization, and expression. (Abstract) Am. J. Hum. Genet. 41: A239 only, 1987.
[0010886]1474.Spritz, R. A.; Strunk, K.; Surowy, C. S.; Hoch, S. O.; Barton, D. E.; Francke, U.: Human U1-70K snRNP protein: cDNA cloning, chromosomal localization, expression, alternative splicing and RNA-binding. Nucleic Acids Res. 15: 10373-10391, 1987.
[0010887]1475.Bain, P. A.; Meisler, M. H.; Taylor, B. A.; Payne, A. H.: The genes encoding gonadal and nongonadal forms of 3-beta-hydroxysteroid dehydrogenase/delta-5-delta-4 isomerase are closely linked on mouse chromosome 3. Genomics 16: 219-223, 1993.
[0010888]1476.Berube, D.; Luu The, V.; Lachance, Y.; Gagne, R.; Labrie, F.: The gene encoding human 3-beta hydroxysteroid dehydrogenase/isomerase mapped to the p13 band of chromosome 1. (Abstract) Cytogenet. Cell Genet. 51: 962 only, 1989.
[0010889]1477.Ruiz-Perez, V. L.; Ide, S. E.; Strom, T. M.; Lorenz, B.; Wilson, D.; Woods, K.; King, L.; Francomano, C.; Freisinger, P.; Spranger, S.; Marino, B.; Dallapiccola, B.; Wright, M.; Meitinger, T.; Polymeropoulos, M. H.; Goodship, J.: Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nature Genet. 24: 283-286, 2000. Note: Erratum: Nature Genet. 25: 125 only, 2000.
[0010890]1478.Slavotinek, A. M.; Stone, E. M.; Mykytyn, K.; Heckenlively, J. R.; Green, J. S.; Heon, E.; Musarella, M. A.; Parfrey, P. S.; Sheffield, V. C.; Biesecker, L. G.: Mutations in MKKS cause Bardet-Biedl syndrome. Nature Genet. 26: 15-16, 2000.
[0010891]1479.Alos, N.; Moisan, A.-M.; Ward, L.; Desrochers, M.; Legault, L.; Leboeuf, G.; Van Vliet, G.; Simard, J.: A novel A10E homozygous mutation in the HSD3B2 gene causing severe salt-wasting 3-beta-hydroxysteroid dehydrogenase deficiency in 46,XX and 46,XY French-Canadians: evaluation of gonadal function after puberty. J. Clin. Endocr. Metab. 85: 1968-1974, 2000.
[0010892]1480.Douhan, J., III; Hauber, I.; Eibl, M. M.; Glimcher, L. H.: Genetic evidence for a new type of major histocompatibility complex class II combined immunodeficiency characterized by a dyscoordinate regulation of HLA-D alpha and beta chains. J. Exp. Med. 183: 1063-1069, 1996.
[0010893]1481.Moulard, B.; Guipponi, M.; Chaigne, D.; Mouthon, D.; Buresi, C.; Malafosse, A.: Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33. Am. J. Hum. Genet. 65: 1396-1400, 1999.
[0010894]1482.Ohmori, I.; Ouchida, M.; Ohtsuka, Y.; Oka, E.; Shimizu, K.: Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. Biochem. Biophys. Res. Commun. 295: 17-23, 2002.
[0010895]1483.Sugawara, T.; Mazaki-Miyazaki, E.; Fukushima, K.; Shimomura, J.; Fujiwara, T.; Hamano, S.; Inoue, Y.; Yamakawa, K.: Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy. Neurology 58: 1122-1124, 2002.
[0010896]1484.Luo, X.; Ikeda, Y.; Parker, K. L.: A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation. Cell 77: 481-490, 1994.
[0010897]1485.Morohashi, K.: Gonadal and extragonadal functions of Ad4BP/SF-1: developmental aspects. Trends Endocr. Metab. 10: 169-173, 1999.
[0010898]1486.Nachtigal, M. W.; Hirokawa, Y.; Enyeart-VanHouten, D. L.; Flanagan, J. N.; Hammer, G. D.; Ingraham, H. A.: Wilms' tumor 1 and Dax-1 modulate the orphan nuclear receptor SF-1 in sexspecific gene expression. Cell 93: 445-454, 1998.
[0010899]1487.Wallace, R. H.; Scheffer, I. E.; Barnett, S.; Richards, M.; Dibbens, L.; Desai, R. R.; Lerman-Sagie, T.; Lev, D.; Mazarib, A.; Brand, N.; Ben-Zeev, B.; Goikhman, I.; Singh, R.; Kremmidiotis, G.; Gardner, A.; Sutherland, G. R.; George, A. L., Jr.; Mulley, J. C.; Berkovic, S. F.: Neuronal sodium-channel alpha-1-subunit mutations in generalized epilepsy with febrile seizures plus. Am. J. Hum. Genet. 68: 859-865, 2001.
[0010900]1488.Ahmed, C. M. I.; Ware, D. H.; Lee, S. C.; Patten, C. D.; Ferrer-Montiel, A. V.; Schinder, A. F.; McPherson, J. D.; Wagner-McPherson, C. B.; Wasmuth, J. J.; Evans, G. A.; Montal, M.: Primary structure, chromosomal localization, and functional expression of a voltage-gated sodium channel from human brain. Proc. Nat. Acad. Sci. 89: 8220-8224, 1992.
[0010901]1489.Green, R. M.; Ananthanarayanan, M.; Suchy, F. J.; Beier, D. R. : Genetic mapping of the Na(+)-taurocholate cotransporting polypeptide to mouse chromosome 12. Mammalian Genome 9: 598-600, 1998.
[0010902]1490.Hagenbuch, B.; Meier, P. J.: Molecular cloning, chromosomal localization, and functional characterization of a human liver Na(+)/bile acid cotransporter. J. Clin. Invest. 93: 1326-1331, 1994.
[0010903]1491.Hallen, S.; Mareninova, O.; Branden, M.; Sachs, G.: Organization of the membrane domain of the human liver sodium/bile acid cotransporter. Biochemistry 41: 7253-7266, 2002.
[0010904]1492.Shiao, T.; Iwahashi, M.; Fortune, J.; Quattrochi, L.; Bowman, S.; Wick, M.; Qadri, I.; Simon, F. R.: Structural and functional characterization of liver cell-specific activity of the human sodium/taurocholate cotransporter. Genomics 69: 203-213, 2000.
[0010905]1493.Hammer, G. D.; Krylova, I.; Zhang, Y.; Darimont, B. D.; Simpson, K.; Weigel, N. L.; Ingraham, H. A.: Phosphorylation of the nuclear receptor SF-1 modulates cofactor recruitment: integration of hormone signaling in reproduction and stress. Molec. Cell 3: 521-526, 1999.
[0010906]1494.Harris, A. N.; Mellon, P. L.: The basic helix-loop-helix, leucine zipper transcription factor, USF (upstream stimulatory factor), is a key regulator of SF-1 (steroidogenic factor-1) gene expression in pituitary gonadotrope and steroidogenic cells. Molec. Endocr. 12: 714-726, 1998.
[0010907]1495.Lala, D. S.; Rice, D. A.; Parker, K. L.: Steroidogenic factor 1, a key regulator of steroidogenic enzyme expression, is the mouse homolog of fushi tarazu-factor 1. Molec. Endocr. 6: 1249-1258, 1992.
[0010908]1496.Calvo, R. M.; Asuncion, M.; Telleria, D.; Sancho, J.; San Millan, J. L.; Escobar-Morreale, H. F.: Screening for mutations in the steroidogenic acute regulatory protein and steroidogenic factor-1 genes, and in CYP11A and dosage-sensitive sex reversal-adrenal hypoplasia gene on the X chromosome, gene-1 (DAX-1), in hyperandrogenic hirsute women. J. Clin. Endocr. Metab. 86: 1746-1749, 2001.
[0010909]1497.Oba, K.; Yanase, T.; Nomura. M.; Morohashi, K.; Takayanagi, R.; Nawata, H.: Structural characterization of human Ad4bp (SF-1) gene. Biochem. Biophys. Res. Commun. 226: 261-267, 1996.
[0010910]1498.Shen, W.-H.; Moore, C. C. D.; Ikeda, Y.; Parker, K. L.; Ingraham, H. A.: Nuclear receptor steroidogenic factor 1 regulates the Mullerian inhibiting substance gene: a link to the sex determination cascade. Cell 77: 651-661, 1994.
[0010911]1499.Swift, S.; Ashworth, A.: The mouse Ftzf1 gene required for gonadal and adrenal development maps to mouse chromosome 2. Genomics 28: 609-610, 1995.
[0010912]1500.Taketo, M.; Parker, K. L.; Howard, T. A.; Tsukiyama, T.; Wong, M.; Niwa, O.; Morton, C. C.; Miron, P. M.; Seldin, M. F.: Homologs of Drosophila fushi-tarazu factor 1 map to mouse chromosome 2 and human chromosome 9q33. Genomics 25: 565-567, 1995.
[0010913]1501.Tremblay, A.; Tremblay, G. B.; Labrie, F.; Giguere, V.: Ligand-independent recruitment of SRC-1 to estrogen receptor beta through phosphorylation of activation function AF-1. Molec. Cell 3: 513-519, 1999.
[0010914]1502.Wilhelm, D.; Englert, C.: The Wilms tumor suppressor WT1 regulates early gonadal development by activation of Sf1. Genes Dev. 16: 1839-1851, 2002.
[0010915]1503.Nagase, H.; Barrett, A. J.; Woessner, J. F., Jr.: Nomenclature and glossary of the matrix metalloproteinases. Matrix Suppl. 1: 421-424, 1992.
[0010916]1504.Bertrand, P.; Poirier, J.; Oda, T.; Finch, C. E.; Pasinetti, G. M.: Association of apolipoprotein E genotype with brain levels of apolipoprotein E and apolipoprotein J (clusterin) in Alzheimer disease. Molec. Brain Res. 33: 174-178, 1995.
[0010917]1505.Birkenmeier, E. H.; Letts, V. A.; Frankel, W. N.; Magenheimer, B. S.; Calvet, J. P.: Sulfated glycoprotein-2 (Sgp-2) maps to mouse chromosome 14. Mammalian Genome 4: 131-132, 1993.
[0010918]1506.Danik, M.; Chabot, J.-G.; Hassan-Gonzalez, D.; Suh, M.; Quirion, R.: Localization of sulfated glycoprotein-2/clusterin mRNA in the rat brain by in situ hybridization. J. Comp. Neurol. 334: 209-227, 1993.
[0010919]1507.Eldadah, Z. A.; Hamosh, A.; Biery, N. J.; Montgomery, R. A.; Duke, M.; Elkins, R.; Dietz, H. C.: Familial tetralogy of Fallot caused by mutation in the jagged1 gene. Hum. Molec. Genet. 10: 163-169, 2001.
[0010920]1508.Pan, H.; Yin, C.; Dyson, N. J.; Harlow, E.; Yamasaki, L.; Van Dyke, T.: Key roles for E2F1 in signaling p53-dependent apoptosis and in cell division within developing tumors. Molec. Cell 2: 283-292, 1998.
[0010921]1509.Phillips, A. C.; Ernst, M. K.; Bates, S.; Rice, N. R.; Vousden, K. H.: E2F-1 potentiates cell death by blocking antiapoptotic signaling pathways. Molec. Cell 4: 771-781, 1999.
[0010922]1510.Saenz Robles, M. T.; Symonds, H.; Chen, J.; Van Dyke, T.: Induction versus progression of brain tumor development: differential functions for the pRB- and p53-targeting domains of simian virus 40 T antigen. Molec. Cell. Biol. 14: 2686-2698, 1994.
[0010923]1511.Sherr, C. J.: Tumor surveillance via the ARF-p53 pathway. Genes Dev. 12: 2984-2991, 1998.
[0010924]1512.Tsai, K. Y.; Hu, Y.; Macleod, K. F.; Crowley, D.; Yamasaki, L.; Jacks, T.: Mutation of E2f-1 suppresses apoptosis and inappropriate S phase entry and extends survival of Rb-deficient mouse embryos. Molec. Cell 2: 293-304, 1998.
[0010925]1513.Weinberg, R. A.: E2F and cell proliferation: a world turned upside down. Cell 85: 457-459, 1996.
[0010926]1514.Wu, L.; Timmers, C.; Maiti, B.; Saavedra, H. I.; Sang, L.; Chong, G. T.; Nuckolls, F.; Giangrande, P.; Wright, F. A.; Field, S. J.; Greenberg, M. E.; Orkin, S.; Nevins, J. R.; Robinson, M. L.; Leone, G.: The E2F1-3 transcription factors are essential for cellular proliferation. Nature 414: 457-462, 2001.
[0010927]1515.Yamasaki, L.; Jacks, T.; Bronson, R.; Goillot, E.; Harlow, E.; Dyson, N. J.: Tumor induction and tissue atrophy in mice lacking E2F-1. Cell 85: 537-548, 1996.
[0010928]1516.Zhang, H. S.; Postigo, A. A.; Dean, D. C.: Active transcriptional repression by the Rb-E2F complex mediates G1 arrest triggered by p16(INK4a), TGF-beta, and contact inhibition. Cell 97: 53-61, 1999.
[0010929]1517.Zhang, Y.; Chellappan, S. P.: Cloning and characterization of human DP2, a novel dimerization partner of E2F. Oncogene 10: 2085-2093, 1995.
[0010930]1518.Agami, R.; Blandino, G.; Oren, M.; Shaul, Y.: Interaction of c-Abl and p73-alpha and their collaboration to induce apoptosis. Nature 399: 809-813, 1999.
[0010931]1519.Arico, M.; Valsecchi, M. G.; Camitta, B.; Schrappe, M.; Chessells, J.; Baruchel, A.; Gaynon, P.; Silverman, L.; Janka-Schaub, G.; Kamps, W.; Pui, C.-H.; Masera, G.: Outcome of treatment in children with Philadelphia chromosome-positive acute lymphoblastic leukemia. N. Eng. J. Med. 342: 998-1006, 2000.
[0010932]1520.Barila, D.; Superti-Furga, G.: An intramolecular SH3-domain interaction regulates c-Abl activity. Nature Genet. 18: 280-282, 1998.
[0010933]1521.Watanabe, M.; Zingg, B. C.; Mohrenweiser, H. W.: Molecular analysis of a series of alleles in humans with reduced activity at the triosephosphate isomerase locus. Am. J. Hum. Genet. 58: 308-316, 1996.
[0010934]1522.FitzGerald, M. G.; Bean, J. M.; Hedge, S. R.; Unsal, H.; MacDonald, D. J.; Harkin, D. P.; Finkelstein, D. M.: Isselbacher, K. J.; Haber, D. A.: Heterozygous ATM mutations do not contribute to early onset of breast cancer. Nature Genet. 15: 307-310, 1997.
[0010935]1523.Yuan, P. M.; Dewan, R. N.; Zaun, M.; Thompson, R. E.; Gracy, R. W.: Isolation and characterization of triosephosphate isomerase isozymes from human placenta. Arch. Biochem. Biophys. 198: 42-52, 1979.
[0010936]1524.Zanella, A.; Mariani, M.; Colombo, M. B.; Borgna-Pignatti, C.; De Stefano, P.; Morgese, G.; Sirchia, G.: Triosephosphate isomerase deficiency: 2 new cases. Scand. J. Haemat. 34: 417-424, 1985.
[0010937]1525.Balci, S.; Demirtas, M.; Civelek, B.; Piskin, M.; Sensoz, O.; Akarsu, A. N.: Phenotypic variability of triphalangeal thumb-polysyndactyly syndrome linked to chromosome 7q36. Am. J. Med. Genet. 87: 399-406, 1999.
[0010938]1526.Heus, H. C.; Hing, A.; van Baren, M. J.; Joosse, M.; Breedveld, G. J.; Wang, J. C.; Burgess, A.; Donnis-Keller, H.; Berglund, C.; Zguricas, J.; Scherer, S. W.; Rommens, J. M.; Oostra, B. A.; Heutink, P.: A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36. Genomics 57: 342-351, 1999.
[0010939]1527.Heutink, P.; Zguricas, J.; van Oosterhout, L.; Breedveld, G. J.; Testers, L.; Sandkuijl, L. A.; Snijders, P. J. L. M.; Weissenbach, J.; Lindhout, D.; Hovius, S. E. R.; Oostra, B. A.: The gene for triphalangeal thumb maps to the subtelomeric region of chromosome 7q. Nature Genet. 6: 287-292, 1994.
[0010940]1528.Kantaputra, P. N.; Chalidapong, P.: Are triphalangeal thumb-polysyndactyly syndrome (TPTPS) and tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (THPTTS) identical?: A father with TPTPS and his daughter with THPTTS in a Thai family. Am. J. Med. Genet. 93: 126-131, 2000.
[0010941]1529.Nicolai, J.-P. A.; Hamel, B. C. J.: A family with complex bilateral polysyndactyly. J. Hand Surg. 13A: 405-407, 1988.
[0010942]1530.Seidman, C.: Personal Communication. Boston, Mass. 3/17/1994.
[0010943]1531.Temtamy, S. A.: Personal Communication. Cairo, Egypt 4/25/1994.
[0010944]1532.Tsukurov, O.; Boehmer, A.; Flynn, J.; Nicolai, J.-P.; Hamel, B. C. J.; Traill, S.; Zaleske, D.; Mankin, H. J.; Yeon, H.; Ho, C.; Tabin, C.; Seidman, J. G.; Seidman, C.: A complex bilateral polysyndactyly disease locus maps to chromosome 7q36. Nature Genet. 6: 282-286, 1994.
[0010945]1533.Zguricas, J.; Heus, H.; Morales-Peralta, E.; Breedveld, G.; Kuyt, B.; Mumcu, E. F.; Bakker, W.; Akarsu, N.; Kay, S. P. J.; Hovius, S. E. R.; Heredero-Baute, L.; Oostra, B. A.; Heutink, P.: Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9 cM region on chromosome 7q36. J. Med. Genet. 36: 32-40, 1999.
[0010946]1534.Zguricas, J.; Snijders, P. J. L. M.; Hovius, S. E. R.; Heutink, P.; Oostra, B. A.; Lindhout, D.: Phenotypic analysis of triphalangeal thumb and associated hand malformations. J. Med. Genet. 31: 462-467, 1994.
[0010947]1535.Altafaj, X.; Dierssen, M.; Baamonde, C.; Marti, E.; Visa, J.; Guimera, J.; Oset, M.; Gonzalez, J. R.; Florez, J.; Fillat, C.; Estivill, X. : Neurodevelopmental delay, motor abnormalities and cognitive deficits in transgenic mice overexpressing Dyrk1A (minibrain), a murine model of Down's syndrome. Hum. Molec. Genet. 10: 1915-1923, 2001.
[0010948]1536.Tanaka, T.; Nakahara, K.; Kato, N.; Imai, T.; Yamazaki, T.; Tomita, H.; Shimokawa, H.; Matsuhashi, H.; Sato, N.; Matsui, M.; Kihira, S.; Shimizu, A.; Sano, T.; Haneda, N.; Kino, M.; Miyakita, Y.; Matsuoka, R.; Nagai, R.; Yazaki, Y.; Nakamura, Y.: Genetic linkage analyses of Romano-Ward syndrome (RWS) in 13 Japanese families. Hum. Genet. 94: 380-384, 1994.
[0010949]1537.Towbin, J. A.; Li, H.; Taggart, T. R.; Lehmann, M. H.; Schwartz, P. J.; Satler, C. A.; Ayyagari, R.; Robinson, J. L.; Moss, A.; Hejtmancik, J. F.: Evidence of genetic heterogeneity in Romano-Ward long QT syndrome: analysis of 23 families. Circulation 90: 2635-2644, 1994.
[0010950]1538.Tye, K.-H.; Desser, K. B.; Benchimol, A.: Survival following spontaneous ventricular flutter-fibrillation associated with QT syndrome: documentation during ambulatory monitoring. Arch. Intern. Med. 140: 255-256, 1980.
[0010951]1539.Tyson, J.; Tranebjaerg, L.; McEntagart, M.; Larsen, L. A.; Christiansen, M.; Whiteford, M. L.; Bathen, J.; Aslaksen, B.; Sorland, S. J.; Lund, O.; Pembrey, M. E.; Malcolm, S.; Bitner-Glindzicz, M.: Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen. Hum. Genet. 107: 499-503, 2000.
[0010952]1540.Van der Straaten, P. J. C.; Bruins, C. L. D.: A family with heritable electrocardiographic Q-T prolongation. J. Med. Genet. 10: 158-160, 1973.
[0010953]1541.Vincent, G. M.: The heart rate of Romano-Ward syndrome patients. Am. Heart J. 112: 61-64, 1986.
[0010954]1542.Vincent, G. M.; Timothy, K. W.; Leppert, M.; Keating, M.: The spectrum of symptoms and QT intervals in carriers of the gene for the long-QT syndrome. New Eng. J. Med. 327: 846-852, 1992.
[0010955]1543.Ward, O. C.: A new familial cardiac syndrome in children. J. Irish Med. Assoc. 54: 103-106, 1964.
[0010956]1544.Weitkamp, L. R.; Moss, A. J.: The long QT (Romano-Ward) syndrome locus, LQT, is probably linked to the HLA loci. (Abstract) Cytogenet. Cell Genet. 40: 775 only, 1985.
[0010957]1545.Weitkamp, L. R.; Moss, A. J.; Lewis, R. A.; Hall, W. J.; MacCluer, J. W.; Schwartz, P. J.; Locati, E. H.; Tzivoni, D.; Vincent, G. M.; Robinson, J. L.; Guttormsen, S. A.: Analysis of HLA and disease susceptibility: chromosome 6 genes and sex influence long-QT phenotype. Am. J. Hum. Genet. 55: 1230-1241, 1994.
[0010958]1546.Weitkamp, L. R.; Moss, A. J.; Schwartz, P. J.; Locati, E.; Tzivoni, D.; Vincent, G. M.; Robinson, J.; Guttormsen, S.: Analysis of HLA haplotypes in long QT syndrome: withdrawal of the preliminary assignment of LQT to the HLA linkage group. (Abstract) Cytogenet. Cell Genet. 51: 1106 only, 1989.
[0010959]1547.Yang, W.-P.; Levesque, P. C.; Little, W. A.; Conder, M. L.; Shalaby, F. Y.; Blanar, M. A.: KvLQT1, a voltage-gated potassium channel responsible for human cardiac arrhythmias. Proc. Nat. Acad. Sci. 94: 4017-4021, 1997.
[0010960]1548.Laudet, V.; Begue, A.; Henry-Duthoit, C.; Joubel, A.; Martin, P.; Stehelin, D.; Saule, S.: Genomic organization of the human thyroid hormone alpha (c-erbA-1) gene. Nucleic Acids Res. 19: 1105-1112, 1991.
[0010961]1549.Kluwe, L.; Friedrich, R. E.; Hagel, C.; Lindenau, M.; Mautner, V.-F.: Mutations and allelic loss of the NF2 gene in neurofibromatosis 2-associated skin tumors. J. Invest. Derm. 114: 1017-1021, 2000.
[0010962]1550.Schleutermann, D. A.; Bias, W. B.; Murdoch, J. L.; McKusick, V. A.: Linkage of the loci for the nail-patella syndrome and adenylate kinase. Am. J. Hum. Genet. 21: 606-630, 1969.
[0010963]1551.Scott, J.; Knott, T. J.; Shaw, D. J.; Brook, J. D.: Localization of genes encoding apolipoproteins CI, CII, and E to the p13-cen region of human chromosome 19. Hum. Genet. 71: 144-146, 1985.
[0010964]1552.Hildebrand, C. E.; Gonzalez, F. J.; McBride, O. W.; Nebert, D. W.: Assignment of the human 2,3,7,8-tetrachlorodibenzo-p-dioxin-inducible cytochrome P1-450 gene to chromosome 15. Nucleic Acids Res. 13: 2009-2016, 1985.
[0010965]1553.Olives, B.; Merriman, M.; Bailly, P.; Bain, S.; Barnett, A.; Todd, J.; Cartron, J.-P.; Merriman, T.: The molecular basis of the Kidd blood group polymorphism and its lack of association with type 1 diabetes susceptibility. Hum. Molec. Genet. 6: 1017-1020, 1997.
[0010966]1554.Bahar, A. Y.; Taylor, P. J.; Andrews, L.; Proos, A.; Burnett, L.; Tucker, K.; Friedlander, M.; Buckley, M. F.: The frequency of founder mutations in the BRCA1, BRCA2, and APC genes in Australian Ashkenazi Jews: implications for the generality of U.S. population data. Cancer 92: 440-445, 2001.
[0010967]1555.Cohn, D. V.; Zangerle, R.; Fischer-Colbrie, R. R.; Chu, L. L. H.; Elting, J. J.; Hamilton, J. W.; Winkler, H.: Similarity of secretory protein I from parathyroid gland to chromogranin A from the adrenal medulla. Proc. Nat. Acad. Sci. 79: 6056-6059, 1982.
[0010968]1556.Stover, M. L.; Primorac, D.; Liu, S. C.; McKinstry, M. B.; Rowe, D. W.: Defective splicing of mRNA from one COL1A1 allele of type I collagen in nondeforming (type I) osteogenesis imperfecta. J. Clin. Invest. 92: 1994-2002, 1993.
[0010969]1557.Sundar Raj, C. V.; Church, R. L.; Klobutcher, L. A.; Ruddle, F. H.: Genetics of the connective tissue proteins: assignment of the gene for human type I procollagen to chromosome 17 by analysis of cell hybrids and microcell hybrids. Proc. Nat. Acad. Sci. 74: 4444-4448, 1977.
[0010970]1558.Tromp, G.; Kuivaniemi, H.; Stacey, A.; Shikata, H.; Baldwin, C. T.; Jaenisch, R.; Prockop, D. J.: Structure of a full-length cDNA clone for the prepro-alpha-1(I) chain of human type I procollagen. Biochem. J. 253: 919-922, 1988.
[0010971]1559.Tsipouras, P.; Schwartz, R. C.; Phillips, J. A., III; Willard, H. F.: A centromere-based linkage group on the long arm of human chromosome 17. Cytogenet. Cell Genet. 47: 109-110, 1988. 100. Tsuneyoshi, T.; Westerhausen, A.; Constantinou, C. D.; Prockop, D. J.: Substitutions for glycine alpha-1-637 and glycine alpha-2-694 of type I procollagen in lethal osteogenesis imperfecta: the conformational strain on the triple helix introduced by a glycine substitution can be transmitted along the helix. J. Biol. Chem. 266: 15608-15613, 1991. 101. Uitterlinden, A. G.; Burger, H.; Huang, Q.; Yue, F.; McGuigan, F. E. A.; Grant, S. F. A.; Hofman, A.; van Leeuwen, J. P. T. M.; Pols, H. A. P.; Ralston, S. H.: Relation of alleles of the collagen type I-alpha-1 gene to bone density and the risk of osteoporotic fractures in postmenopausal women. New Eng. J. Med. 338: 1016-1021, 1998. 102. Uitterlinden, A. G.; Weel, A. E. A. M.; Burger, H.; Fang, Y.; Van Duijn, C. M.; Hofman, A.; Van Leeuwen, J. P. T. M.; Pols, H. A. P.: Interaction between the vitamin D receptor gene and collagen type I-alpha-1 gene in susceptibility for fracture. J. Bone Miner. Res. 16: 379-385, 2001. 103. Valli, M.; Mottes, M.; Tenni, R.; Sangalli, A.; Gomez Lira, M.; Rossi, A.; Antoniazzi, F.; Cetta, G.; Pignatti, P. F.: A de novo G to T transversion in a pro-alpha-1(I) collagen gene for a moderate case of osteogenesis imperfecta: substitution of cysteine for glycine 178 in the triple helical domain. J. Biol. Chem. 266: 1872-1878, 1991. 104. Vogel, B. E.; Doelz, R.; Kadler, K. E.; Hojima, Y.; Engel, J.; Prockop, D. J.: A substitution of cysteine for glycine 748 of the alpha-1 chain produces a kink at this site in the procollagen I molecule and an altered N-proteinase cleavage site over 225 nm away. J. Biol. Chem. 263: 19249-19255, 1988. 105. Vogel, B. E.; Minor, R. R.; Freund, M.; Prockop, D. J.: A point mutation in a type I procollagen gene converts glycine 748 of the alpha-1 chain to cysteine and destabilizes the triple helix in a lethal variant of osteogenesis imperfecta. J. Biol. Chem. 262: 14737-14744, 1987. 106. Wallis, G. A.; Starman, B. J.; Byers, P. H.: Clinical heterogeneity of OI explained by molecular heterogeneity and somatic mosaicism.(Abstract) Am. J. Hum. Genet. 45: A228, 1989. 107. Wallis, G. A.; Starman, B. J.; Zinn, A. B.; Byers, P. H.: Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha-1(I) gene (COL1A1) of type I collagen in a parent. Am. J. Hum. Genet. 46: 1034-1040, 1990. 108. Wallis, G. A.; Sykes, B.; Byers, P. H.; Mathew, C. G.; Viljoen, D.; Beighton, P.: Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible. J. Med. Genet. 30: 492-496, 1993. 109. Wang, Q.; Forlino, A.; Marini, J. C.: Alternative splicing in COL1A1 mRNA leads to a partial null allele and two in-frame forms with structural defects in non-lethal osteogenesis imperfecta. J. Biol. Chem. 271: 28617-28623, 1996. 110. Weil, D.; D'Alessio, M.; Ramirez, F.; de Wet, W.; Cole, W. G.; Chan, D.; Bateman, J. F.: A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VII. EMBO J. 8: 1705-1710, 1989. 111. Weisinger, B.; Glassman, E.; Spencer, F. C.; Berger, A.: Successful aortic valve replacement for aortic regurgitation associated with osteogenesis imperfecta. Brit. Heart J. 37: 475-477, 1975. 112. Willing, M. C.; Cohn, D. H.; Byers, P. H.: Frameshift mutation near the 3-prime end of the COL1A1 gene of type I collagen predicts an elongated pro-alpha-1(I) chain and results in osteogenesis imperfecta type I. J. Clin. Invest. 85: 282-290, 1990. 113. Willing, M. C.; Deschenes, S. P.; Scott, D. A.; Byers, P. H.; Slayton, R. L.; Pitts, S. H.; Arikat, H.; Roberts, E. J.: Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen. Am. J. Hum. Genet. 55: 638-647, 1994. 114. Willing, M. C.; Deschenes, S. P.; Slayton, R. L.; Roberts, E. J.: Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains. Am. J. Hum. Genet. 59: 799-809, 1996. 115. Willing, M. C.; Pruchno, C. J.; Atkinson, M.; Byers, P. H.: Osteogensis (sic) imperfecta type I is commonly due to a COL1A1 null allele of type I collagen. Am. J. Hum. Genet. 51: 508-515, 1992. 116. Willing, M. C.; Pruchno, C. J.; Byers, P. H.: Molecular heterogeneity in osteogenesis imperfecta type I. Am. J. Med. Genet. 45: 223-227, 1993. 117. Willing, M. C.; Slayton, R. L.; Pitts, S. H.; Deschenes, S. P. : Absence of mutations in the promoter of the COL1A1 gene of type I collagen in patients with osteogenesis imperfecta type I. J. Med. Genet. 32: 697-700, 1995. 118. Zhuang, J.; Constantinou, C. D.; Ganguly, A.; Prockop, D. J. : A single base mutation in type I procollagen (COL1A1) that converts glycine alpha(1)-541 to aspartate in a lethal variant of osteogenesis imperfecta: detection of the mutation with a carbodiimide reaction of DNA heteroduplexes and direct sequencing of products of the PCR. Am. J. Hum. Genet. 48: 1186-1191, 1991. 119. Zhuang, J.; Tromp, G.; Kuivaniemi, H.; Castells, S.; Prockop, D. J.: Substitution of arginine for glycine at position 154 of the alpha-1 chain of type I collagen in a variant of osteogenesis imperfecta: comparison to previous cases with the same mutation. Am. J. Med. Genet. 61: 111-116, 1996.
[0010972]1560.Bianchi, G.; Tripodi, G.; Casari, G.; Salardi, S.; Barber, B. R.; Garcia, R.; Leoni, P.; Torielli, L.; Cusi, D.; Ferrandi, M.; Pinna, L. A.; Baralle, F. E.; Ferrari, P.: Two point mutations within the adducin genes are involved in blood pressure variation. Proc. Nat. Acad. Sci. 91: 3999-4003, 1994.
[0010973]1561.Cusi, D.; Barlassina, C.; Azzani, T.; Casari, G.; Citterio, L.; Devoto, M.; Glorioso, N.; Lanzani, C.; Manunta, P.; Righetti, M.; Rivera, R.; Stella, P.; Troffa, C.; Zagato, L.; Bianchi, G.: Polymorphisms of alpha-adducin and salt sensitivity in patients with essential hypertension. Lancet 349: 1353-1357, 1997.
[0010974]1562.Gardner, K.; Bennett, V.: A new erythrocyte membrane-associated protein with calmodulin binding activity: identification and purification. J. Biol. Chem. 261: 1339-1348, 1986.
[0010975]1563.Goldberg, Y. P.; Lin, B.-Y.; Andrew, S. E.; Nasir, J.; Graham, R.; Glaves, M. L.; Hutchinson, G.; Theilmann, J.; Ginzinger, D. G.; Schappert, K.; Clarke, L.; Rommens, J. M.; Hayden, M. R.: Cloning and mapping of the alpha-adducin gene close to D4S95 and assessment of its relationship to Huntington disease. Hum. Molec. Genet. 1: 669-675, 1992.
[0010976]1564.Hayden, M. R.: Huntington's Chorea. New York: Springer-Verlag (pub.) 1981.
[0010977]1565.Joshi, R.; Bennett, V.: Mapping the domain structure of human erythrocyte adducin. J. Biol. Chem. 265: 13130-13136, 1990.
[0010978]1566.Joshi, R.; Gilligan, D. M.; Otto, E.; McLaughlin, T.; Bennett, V.: Primary structure and domain organization of human alpha and beta adducin. J. Cell Biol. 115: 665-675, 1991.
[0010979]1567.Seger, J.; Tchen, P.; Feingold, N.; Grenand, F.; Bois, E.: Homozygosity of adenylate kinase allele 3: two cases. Hum. Genet. 43: 337-339, 1978.
[0010980]1568.Singer, J. D.; Brock, D. J.: Half-normal adenylate kinase activity in three generations. Ann. Hum. Genet. 35: 109-114, 1971.
[0010981]1569.Szeinberg, A.; Gavendo, S.; Cahane, D.: Erythrocyte adenylate-kinase deficiency. (Letter) Lancet I: 315-316, 1969.
[0010982]1570.Szeinberg, A.; Kahana, D.; Gavendo, S.; Zaidman, J.; Ben-Ezzer, J.: Hereditary deficiency of adenylate kinase in red blood cells. Acta Haemat. 42: 111-126, 1969.
[0010983]1571.Toren, A.; Brok-Simoni, F.; Ben-Bassat, I.; Holtzman, F.; Mandel, M.; Neumann, Y.; Ramot, B.; Rechavi, G.; Kende, G.: Congenital haemolytic anaemia associated with adenylate kinase deficiency. Brit. J. Haemat. 87: 376-380, 1994.
[0010984]1572.Weitkamp, L. R.; Sing, C. F.; Shreffler, D. C.; Guttormsen, S. A.: The genetic linkage relations of adenylate kinase: further data on the ABO-AK linkage group. Am. J. Hum. Genet. 21: 600-605, 1969.
[0010985]1573.Westerveld, A.; Jongsma, A. P. M.; Meera Khan, P.; Van Someren, H.; Bootsma, D.: Assignment of the AK(1): Np: AKO linkage group to human chromosome 9. Proc. Nat. Acad. Sci. 73: 895-899, 1976.
[0010986]1574.Zuffardi, O.; Caiulo, A.; Maraschio, P.; Tupler, R.; Bianchi, E.; Amisano, P.; Beluffi, G.; Moratti, R.; Liguri, G.: Regional assignment of the loci for adenylate kinase to 9q32 and for alpha(1)-acid glycoprotein to 9q31-q32: a locus for Goltz syndrome in region 9q32-qter? Hum. Genet. 82: 17-19, 1989.
[0010987]1575.Cook, P. J. L.; Buckton, K. E.; Spowart, G.: Family studies on chromosome 9. Cytogenet. Cell Genet. 16: 284-288, 1976.
[0010988]1576.Mohandas, T.; Sparkes, R. S.; Sparkes, M. C.; Shulkin, J. D.; Toomey, K. E.; Funderburk, S. J.: Regional localization of human gene loci on chromosome 9: studies of somatic cell hybrids containing human translocation. Am. J. Hum. Genet. 31: 586-600, 1979.
[0010989]1577.Pilz, A.; Woodward, K.; Povey, S.; Abbott, C.: Comparative mapping of 50 human chromosome 9 loci in the laboratory mouse. Genomics 25: 139-149, 1995.
[0010990]1578.Povey, S.; Slaughter, C. A.; Wilson, D. E.; Gormley, I. P.; Buckton, K. E.; Perry, P.; Bobrow, M.: Evidence for the assignment of the loci AK 1, AK 3 and ACON to chromosome 9 in man. Ann. Hum. Genet. 39: 413-422, 1976.
[0010991]1579.Robson, E. B.; Meera Khan, P.: Report of the committee on the genetic constitution of chromosomes 7, 8, and 9. Cytogenet. Cell Genet. 32: 144-152, 1982.
[0010992]1580.Steinbach, P.; Benz, R.: Demonstration of gene dosage effects for AK3 and GALT in fibroblasts from a fetus with 9p trisomy. Hum. Genet. 63: 290-291, 1983.
[0010993]1581.Viskochil, D.; Buchberg, A. M.; Xu, G.; Cawthon, R. M.; Stevens, J.; Wolff, R. K.; Culver, M.; Carey, J. C.; Copeland, N. G.; Jenkins, N. A.; White, R.; O'Connell, P.: Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell 62: 187-192, 1990.
[0010994]1582.Wilson, D. E., Jr.; Povey, S.; Harris, H.: Adenylate kinases in man: evidence for a third locus. Ann. Hum. Genet. 39: 305-313, 1976.
[0010995]1583.Xu, G.; O'Connell, P.; Stevens, J.; White, R.: Characterization of human adenylate kinase 3 (AK3) cDNA and mapping of the AK3 pseudogene to an intron of the NF1 gene. Genomics 13: 537-542, 1992.
[0010996]1584.Budarf, M. L.; Emanuel, B. S.; Collins, J.; Fibison, W.; Barshop, B. A.: Isolation and regional localization of the human adenylosuccinate lyase gene. (Abstract) Cytogenet. Cell Genet. 58: 2046 only, 1991.
[0010997]1585.Fon, E. A.; Demczuk, S.; Delattre, O.; Thomas, G.; Rouleau, G. A.: Mapping of the human adenylosuccinate lyase (ADSL) gene to chromosome 22q13.1-q13.2. Cytogenet. Cell Genet. 64: 201-203, 1993.
[0010998]1586.Jaeken, J.; Van den Bergh, F.; Vincent, M. F.; Casaer, P.; Van den Berghe, G.: Adenylosuccinase deficiency: a newly recognized variant. J. Inherit. Metab. Dis. 15: 416-418, 1992.
[0010999]1587.Jaeken, J.; Van den Berghe, G.: An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids. Lancet II: 1058-1061, 1984.
[0011000]1588.Jaeken, J.; Wadman, S. K.; Duran, M.; van Sprang, F. J.; Beemer, F. A.; Holl, R. A.; Theunissen, P. M.; de Cock, P.; van den Bergh, F.; Vincent, M. F.; van den Berghe, G.: Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis. Europ. J. Pediat. 148: 126-131, 1988.
[0011001]1589.Kmoch, S.; Hartmannova, H.; Krijt, J.; Valik, D.; Jones, J. D.; Sebesta, L.: Genetic heterogeneity in adenylosuccinate lyase deficiency. Clin. Biochem. 30: 264 only, 1997.
[0011002]1590.Kmoch, S.; Hartmannova, H.; Stiburkova, B.; Krijt, J.; Zikanova, M.; Sebesta, I.: Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients. Hum. Molec. Genet. 9: 1501-1513, 2000.
[0011003]1591.Maaswinkel-Mooij, P. D.; Laan, L. A. E. M.; Onkenhout, W.; Brouwer, O. F.; Jaeken, J.; Poorthuis, B. J. H. M.: Adenylosuccinase deficiency presenting with epilepsy in early infancy. J. Inherit. Metab. 20: 606-607, 1997.
[0011004]1592.Maddocks, J.; Reed, T.: Urine test for adenylosuccinase deficiency in autistic children. (Letter) Lancet I: 158-159, 1989.
[0011005]1593.Marie, S.; Cuppens, H.; Heuterspreute, M.; Jaspers, M.; Tola, E. Z.; Gu, X. X.; Legius, E.; Vincent, M.-F.; Jaeken, J.; Cassiman, J.-J.; Van den Berghe, G.: Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence. Hum. Mutat. 13: 197-202, 1999.
[0011006]1594.Marie, S.; Race, V.; Nassogne, M.-C.; Vincent, M.-F.; Van den Berghe, G.: Mutation of a nuclear respiratory factor 2 binding site in the 5-prime untranslated region of the ADSL gene in three patients with adenylosuccinate lyase deficiency. Am. J. Hum. Genet. 71: 14-21, 2002.
[0011007]1595.Salerno, C.; Crifo, C.; Giardini, O.: Adenylosuccinase deficiency: a patient with impaired erythrocyte activity and anomalous response to intravenous fructose. J. Inherit. Metab. Dis. 18: 602-608, 1995.
[0011008]1596.Adinolfi, A.; Adinolfi, M.; Hopkinson, D. A.: Immunological and biochemical characterization of the human alcohol dehydrogenase chi-ADH isozyme. Ann. Hum. Genet. 48: 1-10, 1984.
[0011009]1597.Beisswenger, T. B.; Holmquist, B.; Vallee, B. L.: Chi-ADH is the sole alcohol dehydrogenase isozyme of mammalian brains: implications and inferences. Proc. Nat. Acad. Sci. 82: 8369-8373, 1985.
[0011010]1598.Carlock, L.; Hiroshige, S.; Wasmuth, J.; Smith, M.: Assignment of the gene coding for class III ADH to human chromosome 4: 4q21-4q25. (Abstract) Cytogenet. Cell Genet. 40: 598 only, 1985.
[0011011]1599.Engeland, K.; Hoog, J.-O.; Holmquist, B.; Estonius, M.; Jornvall, H.; Vallee, B. L.: Mutation of arg-115 of human class III alcohol dehydrogenase: a binding site required for formaldehyde dehydrogenase activity and fatty acid activation. Proc. Nat. Acad. Sci. 90: 2491-2494, 1993.
[0011012]1600.Giri, P.; Krug, J. F.; Kozak, C.; Moretti, T.; O'Brien, S. J.; Seuanez, H. N.; Goldman, D.: Cloning and comparative mapping of a human class III (chi) alcohol dehydrogenase cDNA. Biochem. Biophys. Res. Commun. 164: 453-460, 1989.
[0011013]1601.Goldman, D.; RathnaGiri, P.; Moretti, T. R.; Krug, J. F.; Kozak, C.; Dean, M.; Seuanez, H. N.; O'Brien, S. J.: Class III alcohol dehydrogenase (ADH5): widespread expression and synteny with other ADHs in both mouse and man. (Abstract) Am. J. Hum. Genet. 45 (suppl.): A141 only, 1989.
[0011014]1602.Matsuo, Y.; Yokoyama, S.: Cloning and sequencing of a processed pseudogene derived from a human class III alcohol dehydrogenase gene. Am. J. Hum. Genet. 46: 85-91, 1990.
[0011015]1603.Smith, M.: Genetics of human alcohol and aldehyde dehydrogenases. Adv. Hum. Genet. 15: 249-290, 1986.
[0011016]1604.Herz, J.; Hamann, U.; Rogne, S.; Myklebost, O.; Gausepohl, H.; Stanley, K. K.: Surface location and high affinity for calcium of a 500 kd liver membrane protein closely related to the LDLreceptor suggest a physiological role as lipoprotein receptor. EMBO J. 7: 4119-4127, 1988.
[0011017]1605.Cailleau-Thomas, A.; Coullin, P.; Candelier, J.-J.; Balanzino, L.; Mennesson, B.; Oriol, R.; Mollicone, R.: FUT4 and FUT9 genes are expressed early in human embryogenesis. Glycobiology 10: 789-802, 2000.
[0011018]1606.Couillin, P.; Mollicone, R.; Grisard, M. C.; Gibaud, A.; Ravise, N.; Feingold, J.; Oriol, R.: Chromosome 11q localization of one of the three expected genes for the human alpha-3-fucosyltransferases, by somatic hybridization. Cytogenet. Cell Genet. 56: 108-111, 1991.
[0011019]1607.Geurts van Kessel, A.; Tetteroo, P.; van Agthoven, T.; Paulussen, R.; van Dongen, J.; Hagemeijer, A.; von dem Borne, A.: Localization of human myeloid-associated surface antigen detected by a panel of 20 monoclonal antibodies to the q12-qter region of chromosome 11. J. Immun. 133: 1265-1269, 1984.
[0011020]1608.Cazeneuve, C.; Ajrapetyan, H.; Papin, S.; Roudot-Thoraval, F.; Genevieve, D.; Mndjoyan, E.; Papazian, M.; Sarkisian, A.; Babloyan, A.; Boissier, B.; Duquesnoy, P.; Kouyoumdjian, J.-C.; Girodon-Boulandet, E.; Grateau, G.; Sarkisian, T.; Amselem, S.: Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever. Am. J. Hum. Genet. 67: 1136-1143, 2000.
[0011021]1609.Sack, G. H., Jr.: Serum amyloid A (SAA) gene variations in familial Mediterranean fever. Molec. Biol. Med. 5: 61-67, 1988.
[0011022]1610.Azem, A.; Kessel, M.; Goloubinoff, P.: Characterization of a functional GroEL-14(GroES-7)-2 chaperonin hetero-oligomer. Science 265: 653-656, 1994.
[0011023]1611.Cheng, M. Y.; Hartl, F.-U.; Martin, J.; Pollock, R. A.; Kalousek, F.; Neupert, W.; Hallberg, E. M.; Hallberg, R. L.; Horwich, A. L. : Mitochondrial heat-shock protein hsp60 is essential for assembly of proteins imported into yeast mitochondria. Nature 337: 620-625, 1989.
[0011024]1612.Ellis, R. J.: The molecular chaperone concept. Semin. Cell Biol. 1: 1-9, 1990.
[0011025]1613.Fontaine, B.; Davoine, C.-S.; Durr, A.; Paternotte, C.; Feki, I.; Weissenbach, J.; Hazan, J.; Brice, A.: A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34. Am. J. Hum. Genet. 66: 702-707, 2000.
[0011026]1614.Rothman, J. E.: Polypeptide chain binding proteins: catalysts of protein folding and related processes in cells. Cell 59: 591-601, 1989.
[0011027]1615.Saibil, H.; Dong, Z.; Wood, S.; auf der Mauer, A.: Binding of chaperonins. Nature 353: 25-26, 1991.
[0011028]1616.Schmidt, M.; Rutkat, K.; Rachel, R.; Pfeifer, G.; Jaenicke, R.; Viitanen, P.; Lorimer, G.; Buchner, J.: Symmetric complexes of GroE chaperonins as part of the functional cycle. Science 265: 656-659, 1994.
[0011029]1617.Venner, T. J.; Singh, B.; Gupta, R. S.: Nucleotide sequences and novel structural features of human and Chinese hamster hsp60 (chaperonin) gene families. DNA Cell Biol. 9: 545-552, 1990.
[0011030]1618.Smit, M.; van der Kooij-Meijs, E.; Frants, R. R.; Havekes, L.; Klasen, E. C.: Apolipoprotein gene cluster on chromosome 19: definite localization of the APOC2 gene and the polymorphic HpaI site associated with type III hyperlipoproteinemia. Hum. Genet. 78: 90-93, 1988.
[0011031]1619.Smit, M.; van der Kooij-Meijs, E.; Woudt, L. P.; Havekes, L. M.; Frants, R. R.: Exact localization of the familial dysbetalipoproteinemia associated HpaI restriction site in the promoter region of the APOC1 gene. Biochem. Biophys. Res. Commun. 152: 1282-1288, 1988.
[0011032]1620.Tata, F.; Henry, I.; Markham, A. F.; Wallis, S. C.; Weil, D.; Grzeschik, K. H.; Junien, C.; Williamson, R.; Humphries, S. E.: Isolation and characterisation of a cDNA clone for human apolipoprotein CI and assignment of the gene to chromosome 19. Hum. Genet. 69: 345-349, 1985.
[0011033]1621.Coste, H.; Rodriguez, J. C.: Orphan nuclear hormone receptor Rev-erb-alpha regulates the human apolipoprotein CIII promoter. J. Biol. Chem. 277: 27120-27129, 2002.
[0011034]1622.Dammerman, M.; Sandkuijl, L. A.; Halaas, J. L.; Chung, W.; Breslow, J. L.: An apolipoprotein CIII haplotype protective against hypertriglyceridemia is specified by promoter and 3-prime untranslated region polymorphisms. Proc. Nat. Acad. Sci. 90: 4562-4566, 1993.
[0011035]1623.Henderson, H. E.; Landon, S. V.; Michie, J.; Berger, G. M. B.: Association of a DNA polymorphism in the apolipoprotein C-III gene with diverse hyperlipidaemic phenotypes. Hum. Genet. 75: 62-65, 1987.
[0011036]1624.Karathanasis, S. K.; McPherson, J.; Zannis, V. I.; Breslow, J. L.: Linkage of human apolipoproteins A-I and C-III genes. Nature 304: 371-373, 1984.
[0011037]1625.Li, W. W.; Dammerman, M. M.; Smith, J. D.; Metzger, S.; Breslow, J. L.; Leff, T.: Common genetic variation in the promoter of the human apo CIII gene abolishes regulation by insulin and may contribute to hypertriglyceridemia. J. Clin. Invest. 96: 2601-2605, 1995.
[0011038]1626.Maeda, H.; Hashimoto, R. K.; Oguro, T.; Hiraga, S.; Uzawa, H.: Molecular cloning of a human apoC-III variant: thr 74-to-ala 74 mutation prevents O-glycosylation. J. Lipid Res. 28: 1405-1409, 1987.
[0011039]1627.Maeda, H.; Uzawa, H.; Kamei, R.: Unusual familial lipoprotein C-III associated with apolipoprotein C-III-0 preponderance. Biochim. Biophys. Acta 665: 578-585, 1981.
[0011040]1628.Oettgen, P.; Antonarakis, S. E.; Karathanasis, S. K.: PvuII polymorphic site upstream to the human apoCIII gene. Nucleic Acids Res. 14: 5571, 1986.
[0011041]1629.von Eckardstein, A.; Holz, H.; Sandkamp, M.; Weng, W.; Funke, H.; Assmann, G.: Apolipoprotein C-III(lys58-to-glu): identification of an apolipoprotein C-III variant in a family with hyperalphalipoproteinemia. J. Clin. Invest. 87: 1724-1731, 1991.
[0011042]1630.Vu-Dac, N.; Gervois, P.; Torra, I. P.; Fruchart, J.-C.; Kosykh, V.; Kooistra, T.; Princen, H. M. G.; Dallongeville, J.; Staels, B. : Retinoids increase human Apo C-III expression at the transcriptional level via the retinoid X receptor: contribution to the hypertriglyceridemic action of retinoids. J. Clin. Invest. 102: 625-632, 1998.
[0011043]1631.Zannis, V. I.; Kan, H. Y.; Kritis, A.; Zanni, E. E.; Kardassis, D.: Transcriptional regulatory mechanisms of the human apolipoprotein genes in vitro and in vivo. Curr. Opin. Lipid. 12: 181-207, 2001.
[0011044]1632.Jaiswal, A. K.; Gonzalez, F. J.; Nebert, D. W.: Comparison of human mouse P(1)450 upstream regulatory sequences in liver- and nonliver-derived cell lines. Molec. Endocr. 1: 312-320, 1987.
[0011045]1633.Jaiswal, A. K.; Gonzalez, F. J.; Nebert, D. W.: Human P(1)-450 gene sequence and correlation of mRNA with genetic differences in benzo(a)pyrene metabolism. Nucleic Acids Res. 13: 4503-4520, 1985.
[0011046]1634.Jaiswal, A. K.; Gonzalez, F. J.; Nebert, D. W.: Human dioxin-inducible cytochrome P1-450: complementary DNA and amino acid sequence. Science 228: 80-83, 1985.
[0011047]1635.Jaiswal, A. K.; Nebert, D. W.: Two RFLPs associated with the human P(1)450 gene linked to the MPI locus on chromosome 15 (HGM8 D15S8). Nucleic Acids Res. 14: 4376, 1986.
[0011048]1636.Jaiswal, A. K.; Nebert, D. W.; Gonzalez, F. J.: Human P(3)450: cDNA and complete amino acid sequence. Nucleic Acids Res. 14: 6773-6774, 1986.
[0011049]1637.Jones, S. N.; Jones, P. G.; Ibarguen, H.; Caskey, C. T.; Craigen, W. J.: Induction of the Cyp1a-1 dioxin-responsive enhancer in transgenic mice. Nucleic Acids Res. 19: 6547-6551, 1991.
[0011050]1638.Kawajiri, K.; Eguchi, H.; Nakachi, K.; Sekiya, T.; Yamamoto, M. : Association of CYP1A1 germ line polymorphisms with mutations of the p53 gene in lung cancer. Cancer Res. 56: 72-76, 1996.
[0011051]1639.Kawajiri, K.; Nakachi, K.; Imai, K.; Yoshii, A.; Shinoda, N.; Watanabe, J.: Identification of genetically high risk individuals to lung cancer by DNA polymorphisms of the cytochrome P450IA1 gene. FEBS Lett. 263: 131-133, 1990.
[0011052]1640.Kawajiri, K.; Watanabe, J.; Gotoh, O.; Tagashira, Y.; Sogawa, K.; Fujii-Kuriyama, Y.: Structure and drug inducibility of the human cytochrome P-450c gene. Europ. J. Biochem. 159: 219-225, 1986.
[0011053]1641.Kouri, R. E.; McKinney, C. E.; Slomiany, D. J.; Snodgrass, D. R.; Wray, N. P.; McLemore, T. L.: Positive correlation between high aryl hydrocarbon hydroxylase activity and primary lung cancer as analyzed in cryopreserved lymphocytes. Cancer Res. 42: 5030-5037, 1982.
[0011054]1642.McBride, O. W.: Personal Communication. Bethesda, Md. 9/16/1985.
[0011055]1643.Mooney, L. A.; Bell, D. A.; Santella, R. M.; Van Bennekum, A. M.; Ottman, R.; Paik, M.; Blaner, W. S.; Lucier, G. W.; Covey, L.; Young, T. L.; Cooper, T. B.; Glassman, A. H.; Perera, F. P.: Contribution of genetic and nutritional factors to DNA damage in heavy smokers. Carcinogenesis 18: 503-509, 1997.
[0011056]1644.Nakachi, K.; Imai, K.; Hayashi, S.; Watanabe, J.; Kawajiri, K. : Genetic susceptibility to squamous cell carcinoma of the lung in relation to cigarette smoking dose. Cancer Res. 51: 5177-5180, 1991.
[0011057]1645.Nebert, D. W.: Personal Communication. Bethesda, Md. 2/1/1988.
[0011058]1646.Ocraft, K. P.; Muskett, J. M.; Brown, S.: Localization of the human arylhydrocarbon hydroxylase gene to the 2q31-2pter region of chromosome 2. Ann. Hum. Genet. 49: 237-239, 1985.
[0011059]1647.Perera, F. P.: Environment and cancer: who are susceptible? Science 278: 1068-1073, 1997.
[0011060]1648.Petersen, D. D.; McKinney, C. E.; Ikeya, K.; Smith, H. H.; Bale, A. E.; McBride, O. W.; Nebert, D. W.: Human CYP1A1 gene: cosegregation of the enzyme inducibility phenotype and an RFLP. Am. J. Hum. Genet. 48: 720-725, 1991.
[0011061]1649.Quattrochi, L. C.; Okino, S. T.; Pendurthi, U. R.; Tukey, R. H. : Cloning and isolation of human cytochrome P-450 cDNAs homologous to dioxin-inducible rabbit mRNAs encoding P-450 4 and P-450 6. DNA 4: 395-400, 1985.
[0011062]1650.Tukey, R. H.; Lalley, P. A.; Nebert, D. W.: Localization of cytochrome P1-450 and P3-450 genes to mouse chromosome 9. Proc. Nat. Acad. Sci. 81: 3163-3166, 1984.
[0011063]1651.Wang, X.; Zuckerman, B.; Pearson, C.; Kaufman, G.; Chen, C.; Wang, G.; Niu, T.; Wise, P. H.; Bauchner, H.; Xu, X.: Maternal cigarette smoking, metabolic gene polymorphism, and infant birth weight. J.A.M.A. 287: 195-202, 2002.
[0011064]1652.Wiebel, F. J.; Hlavica, P.; Grzeschik, K. H.: Expression of aromatic polycyclic hydrocarbon-induced monooxygenase (aryl hydrocarbon hydroxylase) in man-mouse hybrids is associated with human chromosome 2. Hum. Genet. 59: 277-280, 1981.
[0011065]1653.Xu, X.; Kelsey, K. T.; Wiencke, J. K.; Wain, J. C.; Christiani, D. C.: Cytochrome P450 CYP1A1 MspI polymorphism and lung cancer susceptibility. Cancer Epidemiol. Biomarkers Prev. 5: 687-692, 1996.
[0011066]1654.Berne, R. M.: Cardiac nucleotides in hypoxia: possible role in regulation of coronary blood flow. Am. J. Physiol. 204: 317-322, 1963.
[0011067]1655.Harper, M. E.; Dugaiczyk, A.: Linkage of the evolutionarily-related serum albumin and alpha-fetoprotein genes within q11-22 of human chromosome 4. Am. J. Hum. Genet. 35: 565-572, 1983.
[0011068]1656.Mohandas, N.; Winardi, R.; Knowles, D.; Leung, A.; Parra, M.; George, E.; Conboy, J.; Chasis, J.: Molecular basis for membrane rigidity of hereditary ovalocytosis: a novel mechanism involving the cytoplasmic domain of band 3. J. Clin. Invest. 89: 686-692, 1992.
[0011069]1657.Livingstone, F. B.: The Duffy blood groups, vivax malaria, and malaria selection in human populations: a review. Hum. Biol. 56: 413-425, 1984.
[0011070]1658.Lefort, A.; Passage, E.; Libert, F.; Szpirer, J.; Vassart, G.; Mattei, M.-G.: Localization of human calcyphosine gene (CAPS) to the p13.3 region of chromosome 19 by in situ hybridization. Cytogenet. Cell Genet. 54: 154-155, 1990.
[0011071]1659.Yang-Feng, T. L.; Naiman, T.; Kopatz, I.; Eli, D.; Dafni, N.; Canaani, D.: Assignment of the human casein kinase II alpha-prime subunit gene (CSNK2A1) to chromosome 16p13.2-p13.3. Genomics 19: 173 only, 1994.
[0011072]1660.Bonner, T. I.; Young, A. C.; Brann, M. R.; Buckley, N. J.: Cloning and expression of the human and rat m5 muscarinic acetylcholine genes. Neuron 1: 403-410, 1988.
[0011073]1661.Rosipal, R.; Lamoril, J.; Puy, H.; Da Silva, V.; Gouya, L.; De Rooij, F. W. M.; Te Velde, K.; Nordmann, Y.; Martasek, P.; Deybach, J. C.: Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update. Hum. Mutat. 13: 44-53, 1999.
[0011074]1662.Jones, M. E. E.; Thorburn, A. W.; Britt, K. L.; Hewitt, K. N.; Wreford, N. G.; Proietto, J.; Oz, O. K.; Leury, B. J.; Robertson, K. M.; Yao, S.; Simpson, E. R.: Aromatase-deficient (ArKO) mice have a phenotype of increased adiposity. Proc. Nat. Acad. Sci. 97: 12735-12740, 2000.
[0011075]1663.Sakai, T.; Johnson, K. J.; Murozono, M.; Sakai, K.; Magnuson, M. A.; Wieloch, T.; Cronberg, T.; Isshiki, A.; Erickson, H. P.; Fassler, R.: Plasma fibronectin supports neuronal survival and reduces brain injury following transient focal cerebral ischemia but is not essential for skin-wound healing and hemostasis. Nature Med. 7: 324-330, 2001.
[0011076]1664.Dausset, J.; Ivanyi, P.; Colombani, J.; Feingold, N.; Legrand, L.: Le systeme Hu-1: etudes genetiques de population et de familles. Nouv. Rev. Franc. Hemat. 7: 897-899, 1967.
[0011077]1665.Geurts, J. M.; Schoenmakers, E. F.; Roijer, E.; Stenman, G.; Van de Ven, W. J. M.: Expression of reciprocal hybrid transcripts of HMGIC and FHIT in a pleomorphic adenoma of the parotid gland. Cancer Res. 57: 13-17, 1997.
[0011078]1666.Tan, J. C.; Indelicato, S. R.; Narula, S. K.; Zavodny, P. J.; Chou, C.-C.: Characterization of interleukin-10 receptors on human and mouse cells. J. Biol. Chem. 268: 21053-21059, 1993.
[0011079]1667.Michaud, J.; Wu, F.; Osato, M.; Cottles, G. M.; Yanagida, M.; Asou, N.; Shigesada, K.; Ito, Y.; Benson, K. F.; Raskind, W. H.; Rossier, C.; Antonarakis, S. E.; Israels, S.; McNicol, A.; Weiss, H.; Horwitz, M.; Scott, H. S.: In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis. Blood 99: 1364-1372, 2002.
[0011080]1668.Baumann, P.; West, S. C.: DNA end-joining catalyzed by human cell-free extracts. Proc. Nat. Acad. Sci. 95: 14066-14070, 1998.
[0011081]1669.Lage, H.; Dietel, M.: Cloning of a human cDNA encoding a protein with high homology to yeast methionyl-tRNA synthetase. Gene 178: 187-189, 1996.
[0011082]1670.O'Hara, B.; Jenkins, N. A.; Gilbert, D. J.; Copeland, N. G.; Shows, T. B.; Eddy, R. L.; Bohlen, P.; Kovesdi, I.: Chromosomal assignment of the heparin-binding cytokine genes MDK and PTN in mouse and man. Cytogenet. Cell Genet. 69: 40-43, 1995.
[0011083]1671.Tsukamoto, A. S.; Grosschedl, R.; Guzman, R. C.; Parslow, T.; Varmus, H. E.: Expression of the int-1 gene in transgenic mice is associated with mammary gland hyperplasia and adenocarcinomas in male and female mice. Cell 55: 619-625, 1988.
[0011084]1672.Kawagishi, J.; Kumabe, T.; Yoshimoto, T.; Yamamoto, T.: Structure, organization, and transcription units of the human alpha-platelet-derived growth factor receptor gene, PDGFRA. Genomics 30: 224-232, 1995.
[0011085]1673.Watts, J. D.; Brabb, T.; Bures, E. J.; Wange, R. L.; Samelson, L. E.; Aebersold, R.: Identification and characterization of a substrate specific for the T cell protein tyrosine kinase ZAP-70. FEBS Lett. 398: 217-222, 1996.
[0011086]1674.Pearson, C. A.; Pearson, D.; Shibahara, S.; Hofsteenge, J.; Chiquet-Ehrismann, R.: Tenascin: cDNA cloning and induction by TGF-beta. EMBO J. 7: 2977-2981, 1988.
[0011087]1675.Abou-Khalil, B.; Ge, Q.; Desai, R.; Ryther, R.; Bazyk, A.; Bailey, R.; Haines, J. L.; Sutcliffe, J. S.; George, A. L., Jr.: Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation. Neurology 57: 2265-2272, 2001.
[0011088]1676.Baulac, S.; Gourfinkel-An, I.; Picard, F.; Rosenberg-Bourgin, M.; Prud'homme, J.-F.; Baulac, M.; Brice, A.; LeGuern, E.: A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33. Am. J. Hum. Genet. 65: 1078-1085, 1999.
[0011089]1677.Blanchard, B. J.; Ingram, V. M.: The gene for the sodium channel I-alpha subunit is located on chromosome 21. (Abstract) Cytogenet. Cell Genet. 58: 2034 only, 1991.
[0011090]1678.Claes, L.; Del-Favero, J.; Ceulemans, B.; Lagae, L.; Van Broeckhoven, C.; De Jonghe, P.: De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am. J. Hum. Genet. 68: 1327-1332, 2001.
[0011091]1679.Escayg, A.; Heils, A.; MacDonald, B. T.; Haug, K.; Sander, T.; Meisler, M. H.: A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy. Am. J. Hum. Genet. 68: 866-873, 2001.
[0011092]1680.Escayg, A.; MacDonald, B. T.; Meisler, M. H.; Baulac, S.; Huberfeld, G.; An-Gourfinkel, I.; Brice, A.; LeGuern, E.; Moulard, B.; Chaigne, D.; Buresi, C.; Malafosse, A.: Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nature Genet. 24: 343-345, 2000.
[0011093]1681.Goldin, A. L.; Snutch, T.; Lubbert, H.; Dowsett, A.; Marshall, J.; Auld, V.; Downey, W.; Fritz, L. C.; Lester, H. A.; Dunn, R.; Catterall, W. A.; Davidson, N.: Messenger RNA coding for only the alpha subunit of the rat brain Na channel is sufficient for expression of functional channels in Xenopus oocytes. Proc. Nat. Acad. Sci. 83: 7503-7507, 1986.
[0011094]1682.Isom, L. L.: The role of sodium channels in cell adhesion. Front. Biosci. 7: 12-23, 2002.
[0011095]1683.Lossin, C.; Wang, D. W.; Rhodes, T. H.; Vanoye, C. G.; George, A. L., Jr.: Molecular basis of an inherited epilepsy. Neuron 34: 877-884, 2002.
[0011096]1684.Malo, D.; Schurr, E.; Dorfman, J.; Canfield, V.; Levenson, R.; Gros, P.: Three brain sodium channel alpha-subunit genes are clustered on the proximal segment of mouse chromosome 2. Genomics 10: 666-672, 1991.
[0011097]1685.Malo, M.: Personal Communication. Pearl River, N. Y. 12/6/1993.
[0011098]1686.Malo, M. S.; Blanchard, B. J.; Andresen, J. M.; Srivastava, K.; Chen, X.-N.; Li, X.; Jabs, E. W.; Korenberg, J. R.; Ingram, V. M. : Localization of a putative human brain sodium channel gene (SCN1A) to chromosome band 2q24. Cytogenet. Cell Genet. 67: 178-186, 1994.
[0011099]1687.Malo, M. S.; Srivastava, K.; Andresen, J. M.; Chen, X.-N.; Korenberg, J. R.; Ingram, V. M.: Targeted gene walking by low stringency polymerase chain reaction: assignment of a putative human brain sodium channel gene (SCN3A) to chromosome 2q24-31. Proc. Nat. Acad. Sci. 91: 2975-2979, 1994.
[0011100]1688.Dickinson, D. P.; Ridall, A. L.; Levine, M. J.: Human submandibular gland statherin and basic histidine-rich peptide are encoded by highly abundant mRNA's derived from a common ancestral sequence. Biochem. Biophys. Res. Commun. 149: 784-790, 1987.
[0011101]1689.Sabatini, L. M.; Carlock, L. R.; Johnson, G. W.; Azen, E. A.: cDNA cloning and chromosomal localization of a gene for statherin, a regulator of calcium in saliva. (Abstract) Am. J. Hum. Genet. 39: A217 only, 1986.
[0011102]1690.Sabatini, L. M.; Carlock, L. R.; Johnson, G. W.; Azen, E. A.: cDNA cloning and chromosomal localization (4q11-13) of a gene for statherin, a regulator of calcium in saliva. Am. J. Hum. Genet. 41: 1048-1060, 1987.
[0011103]1691.Carey, A. H.; Chan, K. L.; Short, F.; White, D.; Williamson, R.; Franks, S.: Evidence for a single gene effect causing polycystic ovaries and male pattern baldness. Clin. Endocr. 38: 653-658, 1993.
[0011104]1692.Carey, A. H.; Waterworth, D.; Patel, K.; White, D.; Little, J.; Novelli, P.; Franks, S.; Williamson, R.: Polycystic ovaries and premature male pattern baldness are associated with one allele of the steroid metabolism gene CYP17. Hum. Molec. Genet. 3: 1873-1876, 1994.
[0011105]1693.Ikeda, H.; Mitani, T.; Ohnuma, M.; Haga, H.; Ohtzuka, S.; Kato, T.; Nakase, T.; Sekiguchi, S.: A new platelet-specific antigen, Nak(a), involved in the refractoriness of HLA-matched platelet transfusion. Vox Sang. 57: 213-217, 1989.
[0011106]1694.Kashiwagi, H.; Honda, S.; Tomiyama, Y.; Mizutani, H.; Take, H.; Honda, Y.; Kosugi, S.; Kanayama, Y.; Kurata, Y.; Matsuzawa, Y.: A novel polymorphism in glycoprotein IV (replacement of proline-90 by serine) predominates in subjects with platelet GPIV deficiency. Thromb. Haemost. 69: 481-484, 1993.
[0011107]1695.Kashiwagi, H.; Tomiyama, Y.; Honda, S.; Kosugi, S.; Shiraga, M.; Nagao, N.; Sekiguchi, S.; Kanayama, Y.; Kurata, Y.; Matsuzawa, Y. : Molecular basis of CD36 deficiency: evidence that a 478-C-to-T substitution (proline90-to-serine) in CD36 cDNA accounts for CD36 deficiency. J. Clin. Invest. 95: 1040-1046, 1995.
[0011108]1696.Kashiwagi, H.; Tomiyama, Y.; Nozaki, S.; Kiyoi, T.; Tadokoro, S.; Matsumoto, K.; Honda, S.; Kosugi, S.; Kurata, Y.; Matsuzawa, Y. : Analyses of genetic abnormalities in type I CD36 deficiency in Japan: identification and cell biological characterization of two novel mutations that cause CD36 deficiency in man. Hum. Genet. 108: 459-466, 2001.
[0011109]1697.Lee, K.; Godeau, B.; Fromont, P.; Plonquet, A.; Debili, N.; Bachir, D.; Reviron, D.; Gourin, J.; Fernandez, E.; Galacteros, F.; Bierling, P.: CD36 deficiency is frequent and can cause platelet immunization in Africans. Transfusion 39: 873-879, 1999.
[0011110]1698.Pravenec, M.; Landa, V.; Zidek, V.; Musilova, A.; Kren, V.; Kazdova, L.; Aitman, T. J.; Glazier, A. M.; Ibrahimi, A.; Abumrad, N. A.; Qi, N.; Wang, J.-M.; St. Lezin, E. M.; Kurtz, T. W.: Transgenic rescue of defective Cd36 ameliorates insulin resistance in spontaneously hypertensive rats. Nature Genet. 27: 156-158, 2001.
[0011111]1699.Pravenec, M.; Zidek, V.; Simakova, M.; Kren, V.; Krenova, D.; Horky, K.; Jachymova, M.; Mikova, B.; Kazdova, L.; Aitman, T. J.; Churchill, P. C.; Webb, R. C.; Hingarh, N. H.; Yang, Y.; Wang, J.-M.; St. Lezin, E. M.; Kurtz, T. W.: Genetics of Cd36 and the clustering of multiple cardiovascular risk factors in spontaneous hypertension. J. Clin. Invest. 103: 1651-1657, 1999.
[0011112]1700.Reaven, G. M.; Lithell, H.; Landsberg, L.: Hypertension and associated metabolic abnormalities: the role of insulin resistance and the sympathoadrenal system. New Eng. J. Med. 334: 374-381, 1996.
[0011113]1701.Savill, J.; Hogg, N.; Ren, Y.; Haslett, C.: Thrombospondin cooperates with CD36 and the vitronectin receptor in macrophage recognition of neutrophils undergoing apoptosis. J. Clin. Invest. 90: 1513-1522, 1992.
[0011114]1702.Tanaka, T.; Sohmiya, K.; Kawamura, K.: Is CD36 deficiency an etiology of hereditary hypertrophic cardiomyopathy? J. Molec. Cell. Cardiol. 29: 121-127, 1997.
[0011115]1703.Tandon, N. N.; Kralisz, U.; Jamieson, G. A.: Identification of glycoprotein IV (CD36) as a primary receptor for platelet-collagen adhesion. J. Biol. Chem. 264: 7576-7583, 1989.
[0011116]1704.Tandon, N. N.; Lipsky, R. H.; Burgess, W. H.; Jamieson, G. A. : Isolation and characterization of platelet glycoprotein IV (CD36). J. Biol. Chem. 264: 7570-7575, 1989.
[0011117]1705.Tomiyama, Y.; Take, H.; Ikeda, H.; Mitani, T.; Furubayashi, T.; Mizutani, H.; Yamamoto, N.; Tandon, N. N.; Sekiguchi, S.; Jamieson, G. A.; Kurata, Y.; Yonezawa, T.; Tarui, S.: Identification of the platelet-specific alloantigen, Nak(a), on platelet membrane glycoprotein IV. Blood 75: 684-687, 1990.
[0011118]1706.Urwijitaroon, Y.; Barusrux, S.; Romphruk, A.; Puapairoj, C.: Frequency of human platelet antigens among blood donors in northeastern Thailand. Transfusion 35: 868-870, 1995.
[0011119]1707.van Schravendijk, M. R.; Handunnetti, S. M.; Barnwell, J. W.; Howard, R. J.: Normal human erythrocytes express CD36, an adhesion molecule of monocytes, platelets, and endothelial cells. Blood 80: 2105-2114, 1992.
[0011120]1708.Yamamoto, N.; Akamatsu, N.; Sakuraba, H.; Yamazaki, H.; Tanoue, K.: Platelet glycoprotein IV (CD36) deficiency is associated with the absence (type I) or the presence (type II) of glycoprotein IV on monocytes. Blood 83: 392-397, 1994.
[0011121]1709.Yamamoto, N.; Ikeda, H.; Tandon, N. N.; Herman, J.; Tomiyama, Y.; Mitani, T.; Sekiguchi, S.; Lipsky, R.; Kralisz, U.; Jamieson, G. A.: A platelet membrane glycoprotein (GP) deficiency in healthy blood donors: Nak(a-) platelets lack detectable GPIV (CD36). Blood 76: 1698-1703, 1990.
[0011122]1710.Yufu, Y.; Ideguchi, H.; Narishige, T.; Suematsu, E.; Toyoda, K.; Nishimura, J.; Nawata, H.; Oda, S.: Familial macrothrombocytopenia associated with decreased glycosylation of platelet membrane glycoprotein IV. Am. J. Hemat. 33: 271-273, 1990.
[0011123]1711.Clemetson, J. M.; Kyrle, P. A.; Brenner, B.; Clemetson, K. J.: Variant Bernard-Soulier syndrome associated with a homozygous mutation in the leucine-rich domain of glycoprotein IX. Blood 84: 1124-1131, 1994.
[0011124]1712.Hickey, M. J.; Deaven, L. L.; Roth, G. J.: Human platelet glycoprotein IX: characterization of cDNA and localization of the gene to chromosome 3. FEBS Lett. 274: 189-192, 1990.
[0011125]1713.Hickey, M. J.; Roth, G. J.: Characterization of the gene encoding human platelet glycoprotein IX. (Abstract) Clin. Res. 39: 337A only, 1991.
[0011126]1714.Tunnacliffe, A.; McGuire, R. S.: A physical linkage group in human chromosome band 11q23 covering a region implicated in leukocyte neoplasia. Genomics 8: 447-453, 1990.
[0011127]1715.Lomedico, P.; Rosenthal, N.; Efstratiadis, A.; Gilbert, W.; Koladner, R.; Tizard, R.: The structure and evolution of the two non-allelic rat preproinsulin genes. Cell 18: 545-558, 1979.
[0011128]1716.Allore, R.; O'Hanlon, D.; Price, R.; Neilson, K.; Willard, H. F.; Cox, D. R.; Marks, A.; Dunn, R. J.: Gene encoding the beta-subunit of S100 protein is on chromosome 21: implications for Down syndrome. Science 239: 1311-1313, 1988.
[0011129]1717.Lafage-Pochitaloff-Huvale, M.; Shaw, A.; Dessarps, F.; Mannoni, P.; Fradelizi, D.; Wollman, E. E.: The gene for human thioredoxin maps on the short arm of chromosome 3 at bands 3p11-p12. FEBS Lett. 255: 89-91, 1989.
[0011130]1718.Mandrup-Poulsen, T.; Owerbach, D.; Mortensen, S. A.; Johansen, K.; Meinertz, H.; Sorensen, H.; Nerup, J.: DNA sequences flanking the insulin gene on chromosome 11 confer risk of atherosclerosis. Lancet I: 250-254, 1984.
[0011131]1719.Meyers, D. A.; Beaty, T. H.; Maestri, N. E.; Antonarakis, S. E.; Kazazian, H. H., Jr.: Multipoint mapping studies of the beta-globin, insulin and C-HA-RAS-1 loci on 11p. (Letter) Am. J. Hum. Genet. 39: 539-541, 1986.
[0011132]1720.Michalova, K.; Bucchini, D.; Ripoche, M.-A.; Pictet, R.; Jami, J.: Chromosome localization of the human insulin gene in transgenic mouse lines. Hum. Genet. 80: 247-252, 1988.
[0011133]1721.Nanjo, K.; Sanke, T.; Miyano, M.; Okai, K.; Sowa, R.; Kondo, M.; Nishimura, S.; Iwo, K.; Miyamura, K.; Given, B. D.; Chan, S. J.; Tager, H. S.; Steiner, D. F.; Rubenstein, A. H.: Diabetes due to secretion of a structurally abnormal insulin (insulin Wakayama): clinical and functional characteristics of (leu-A3) insulin. J. Clin. Invest. 77: 514-519, 1986.
[0011134]1722.Olansky, L.; Welling, C.; Giddings, S.; Adler, S.; Bourey, R.; Dowse, G.; Serjeantson, S.; Zimmet, P.; Permutt, M. A.: A variant insulin promoter in non-insulin-dependent diabetes mellitus. J. Clin. Invest. 89: 1596-1602, 1992.
[0011135]1723.Osawa, H.; Onuma, H.; Murakami, A.; Ochi, M.; Nishimiya, T.; Kato, K.; Shimizu, I.; Fujii, Y.; Ohashi, J.; Makino, H.: Systematic search for single nucleotide polymorphisms in the insulin gene: evidence for a high frequency of -23T-A in Japanese subjects. Biochem. Biophys. Res. Commun. 286: 451-455, 2001.
[0011136]1724.Owerbach, D.; Bell, G. I.; Rutter, W. J.; Shows, T. B.: The insulin gene is located on chromosome 11 in human. Nature 286: 82-84, 1980.
[0011137]1725.Pugliese, A.; Zeller, M.; Fernandez, A., Jr.; Zalcberg, L. J.; Bartlett, R. J.; Ricordi, C.; Pietropaolo, M.; Eisenbarth, G. S.; Bennett, S. T.; Patel, D. D.: The insulin gene is transcribed in the human thymus and transcription levels correlate with allelic variation at the INS VNTR-IDDM2 susceptibility locus for type 1 diabetes. Nature 15: 293-297, 1997.
[0011138]1726.Robbins, D. C.; Blix, P. M.; Rubenstein, A. H.; Kanazawa, Y.; Kosaka, K.; Tager, H. S.: A human proinsulin variant at arginine 65. Nature 291: 679-681, 1981.
[0011139]1727.Robbins, D. C.; Shoelson, S. E.; Rubenstein, A. H.; Tager, H. S.: Familial hyperproinsulinemia: two cohorts secreting indistinguishable type II intermediates of proinsulin conversion. J. Clin. Invest. 73: 714-719, 1984.
[0011140]1728.Robbins, D. C.; Tager, H. S.; Rubenstein, A. H.: Biologic and clinical importance of proinsulin. New Eng. J. Med. 310: 1165-1175, 1984.
[0011141]1729.Roder, M. E.; Vissing, H.; Nauck, M. A.: Hyperproinsulinemia in a three-generation Caucasian family due to mutant proinsulin (Arg(65)->His) not associated with impaired glucose tolerance: The contribution of mutant proinsulin to insulin bioactivity. J. Clin. Endocr. Metab. 81: 1634-1640, 1996.
[0011142]1730.Rotwein, P.; Chyn, R.; Chirgwin, J.; Cordell, B.; Goodman, H. M.; Permutt, M. A.: Polymorphism in the 5-prime-flanking region of the human insulin gene and its possible relation to type 2 diabetes. Science 213: 1117-1120, 1981.
[0011143]1731.Rotwein, P.; Yokoyama, S.; Didier, D. K.; Chirgwin, J. M.: Genetic analysis of the hypervariable region flanking the human insulin gene. Am. J. Hum. Genet. 39: 291-299, 1986.
[0011144]1732.Rubenstein, A. H.: Personal Communication. Chicago, Ill. 6/17/1983.
[0011145]1733.Sakura, H.; Iwamoto, Y.; Sakamoto, Y.; Kuzuya, T.; Hirata, H. : Structurally abnormal insulin in a diabetic patient: characterization of the mutant insulin A3 (val-to-leu) isolated from the pancreas. J. Clin. Invest. 78: 1666-1672, 1986.
[0011146]1734.Schwartz, G. P.; Burke, G. T.; Katsoyannis, P. G.: A superactive insulin: [B10-aspartic acid]insulin(human). Proc. Nat. Acad. Sci. 84: 6408-6411, 1987.
[0011147]1735.Seino, S.; Funakoshi, A.; Fu, Z. Z.; Vinik, A.: Identification of insulin variants in patients with hyperinsulinemia by reversed-phase high-performance liquid chromatography. Diabetes 34: 1-7, 1985.
[0011148]1736.Selden, R. F.; Skoskiewicz, M. J.; Russell, P. S.; Goodman, H. M.: Regulation of insulin-gene expression: implications for gene therapy. New Eng. J. Med. 317: 1067-1076, 1987.
[0011149]1737.Shibasaki, Y.; Kawakami, T.; Kanazawa, Y.; Akanuma, Y.; Takaku, F.: Posttranslational cleavage of proinsulin is blocked by a point mutation in familial hyperproinsulinemia. J. Clin. Invest. 76: 378-380, 1985.
[0011150]1738.Shoelson, S.; Fickova, M.; Haneda, M.; Nahum, A.; Musso, G.; Kaiser, E. T.; Rubenstein, A. H.; Tager, H.: Identification of a mutant human insulin predicted to contain a serine-forphenylalanine substitution. Proc. Nat. Acad. Sci. 80: 7390-7394, 1983.
[0011151]1739.Shoelson, S.; Haneda, M.; Blix, P.; Nanjo, A.; Sanke, T.; Inouye, K.; Steiner, D.; Rubenstein, A.; Tager, H.: Three mutant insulins in man. Nature 302: 540-543, 1983.
[0011152]1740.Soares, M. B.; Schon, E.; Henderson, A.; Karathanasis, S. K.; Cate, R.; Zeitlin, S.; Chirgwin, J.; Efstratiadis, A.: RNA-mediated gene duplication: the rat preproinsulin I gene is a functional retroposon. Molec. Cell. Biol. 5: 2090-2103, 1985.
[0011153]1741.Steiner, D. F.: Errors in insulin biosynthesis. (Editorial) New Eng. J. Med. 294: 952-953, 1976.
[0011154]1742.Steiner, D. F.; Chan, S. J.; Welsh, J. M.; Kwok, S. C. M.: Structure and evolution of the insulin gene. Ann. Rev. Genet. 19: 463-484, 1985.
[0011155]1743.Steiner, D. F.; Oyer, P. E.: The biosynthesis of insulin and a probable precursor of insulin by a human islet cell adenoma. Proc. Nat. Acad. Sci. 57: 473-480, 1967.
[0011156]1744.Sures, I.; Goeddel, D. V.; Gray, A.; Ullrich, A.: Nucleotide sequences of human preproinsulin complementation DNA. Science 208: 57-59, 1980.
[0011157]1745.Tager, H.; Given, B.; Baldwin, D.; Mako, M.; Markese, J.; Rubenstein, A.; Olefsky, J.; Kobayashi, M.; Kolterman, O.; Poucher, R.: A structurally abnormal insulin causing human diabetes. Nature 281: 122-125, 1979.
[0011158]1746.Todd, S.; Yoshida, M. C.; Fang, X. E.; McDonald, L.; Jacobs, J.; Heinrich, G.; Bell, G. I.; Naylor, S. L.; Sakaguchi, A. Y.: Genes for insulin I and II, parathyroid hormone, and calcitonin are on rat chromosome 1. Biochem. Biophys. Res. Commun. 131: 1175-1180, 1985.
[0011159]1747.Ullrich, A.; Dull, T. J.; Gray, A.: Genetic variation in the human insulin gene. Science 209: 612-615, 1980.
[0011160]1748.Vafiadis, P.; Bennett, S. T.; Todd, J. A.; Nadeau, J.; Grabs, R.; Goodyer, C. G.; Wickramasinghe, S.; Colle, E.; Polychronakos, C.: Insulin expression in the human thymus is modulated by INS VNTR alleles at the IDDM2 locus. Nature 15: 289-292, 1997.
[0011161]1749.Karet, F. E.; Gainza, F. J.; Gyory, A. Z.; Unwin, R. J.; Wrong, O.; Tanner, M. J. A.; Nayir, A.; Alpay, H.; Santos, F.; Hulton, S. A.; Bakkaloglu, A.; Ozen, S.; Cunningham, M. J.; di Pietro, A.; Walker, W. G.; Lifton, R. P.: Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis. Proc. Nat. Acad. Sci. 95: 6337-6342, 1998.
[0011162]1750.Richards, P.; Wrong, O. M.: Dominant inheritance in a family with familial renal tubular acidosis. Lancet II: 998-999, 1972.
[0011163]1751.Allore, R. J.; Friend, W. C.; O'Hanlon, D.; Neilson, K. M.; Baumal, R.; Dunn, R. J.; Marks, A.: Cloning and expression of the human S100-beta gene. J. Biol. Chem. 265: 15537-15543, 1990.
[0011164]1752.Duncan, A. M. V.; Higgins, J.; Dunn, R. J.; Allore, R.; Marks, A.: Refined sublocalization of the human gene encoding the beta subunit of the S100 protein (S100B) and confirmation of a subtle t(9;21) translocation using in situ hybridization. Cytogenet. Cell Genet. 50: 234-235, 1989.
[0011165]1753.Reeves, R. H.; Yao, J.; Crowley, M. R.; Buck, S.; Zhang, X.; Yarowsky, P.; Gearhart, J. D.; Hilt, D. C.: Astrocytosis and axonal proliferation in the hippocampus of S100b transgenic mice. Proc. Nat. Acad. Sci. 91: 5359-5363, 1994.
[0011166]1754.Petrij, F.; Dauwerse, H. G.; Blough, R. I.; Giles, R. H.; van der Smagt, J. J.; Wallerstein, R.; Maaswinkel-Mooy, P. D.; van Karnebeek, C. D.; van Ommen, G.-J. B.; van Haeringen, A.; Rubinstein, J. H.; Saal, H. M.; Hennekam, R. C. M.; Peters, D. J. M.; Breuning, M. H. : Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations. J. Med. Genet. 37: 168-176, 2000.
[0011167]1755.Petrij, F.; Giles, R. H.; Dauwerse, H. G.; Saris, J. J.; Hennekam, R. C. M.; Masuno, M.; Tommerup, N.; van Ommen, G.-J. B.; Goodman, R. H.; Peters, D. J. M.; Breuning, M. H.: Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature 376: 348-351, 1995.
[0011168]1756.Wessels, J. W.; Mollevanger, P.; Dauwerse, J. G.; Cluitmans, F. H. M.; Breuning, M. H.; Beverstock, G. C.: Two distinct loci on the short arm of chromosome 16 are involved in myeloid leukemia. Blood 77: 1555-1559, 1991.
[0011169]1757.Ruttledge, M. H.; Andermann, A. A.; Phelan, C. M.; Claudio, J. O.; Han, F.; Chretien, N.; Rangaratnam, S.; MacCollin, M.; Short, P.; Parry, D.; Michels, V.; Riccardi, V. M.; Weksberg, R.; Kitamura, K.; Bradburn, J. M.; Hall, B. D.; Propping, P.; Rouleau, G. A.: Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease. Am. J. Hum. Genet. 59: 331-342, 1996.
[0011170]1758.Citron, M.; Vigo-Pelfrey, C.; Teplow, D. B.; Miller, C.; Schenk, D.; Johnston, J.; Winblad, B.; Venizelos, N.; Lannfelt, L.; Selkoe, D. J.: Excessive production of amyloid beta-protein by peripheral cells of symptomatic and presymptomatic patients carrying the Swedish familial Alzheimer disease mutation. Proc. Nat. Acad. Sci. 91: 11993-11997, 1994.
[0011171]1759.Easton, D. F.; Bishop, D. T.; Ford, D.; Crockford, G. P.; Breast Cancer Linkage Consortium: Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. Am. J. Hum. Genet. 52: 678-701, 1993.
[0011172]1760.Cloninger, C.: The psychobiological regulation of social cooperation. Nature Med. 1: 623-625, 1995.
[0011173]1761.Kurlan, R.; Behr, J.; Medved, L.; Shoulson, I.; Pauls, D.; Kidd, J. R.; Kidd, K. K.: Familial Tourette's syndrome: report of a large pedigree and potential for linkage analysis. Neurology 36: 772-776, 1986.
[0011174]1762.Nakae, J.; Biggs, W. H., III; Kitamura, T.; Cavenee, W. K.; Wright, C. V. E.; Arden, K. C.; Accili, D.: Regulation of insulin action and pancreatic beta-cell function by mutated alleles of the gene encoding forkhead transcription factor Foxo1. Nature Genet. 32: 245-253, 2002.
[0011175]1763.Kamoun, P.; Aral, B.; Saudubray, J.-M.: A new inherited metabolic disease: delta-1-pyrroline 5-carboxylate synthetase deficiency. Bull. Nat. Acad. Med. 182: 131-139, 1998.
[0011176]1764.Fischer, J. A.; Egert, F.; Werder, E.; Born, W.: An inherited mutation associated with functional deficiency of the alpha-subunit of the guanine nucleotide-binding protein Gs in pseudo- and pseudopseudohypoparathyroidism. J. Clin. Endocr. Metab. 83: 935-938, 1998.
[0011177]1765.Ophoff, R. A.; Terwindt, G. M.; Vergouwe, M. N.; van Eijk, R.; Oefner, P. J.; Hoffman, S. M. G.; Lamerdin, J. E.; Mohrenweiser, H. W.; Bulman, D. E.; Ferrari, M.; Haan, J.; Lindhout, D.; van Ommen, G.-J. B.; Hofker, M. H.; Ferrari, M. D.; Frants, R. R.: Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca(2+) channel gene CACNL1A4. Cell 87: 543-552, 1996.
[0011178]1766.Zhuang, Y.; Soriano, P.; Weintraub, H.: The helix-loop-helix gene E2A is required for B cell formation. Cell 79: 875-884, 1994.
[0011179]1767.Gladwin, A. J.; Dixon, J.; Loftus, S. K.; Edwards, S.; Wasmuth, J. J.; Hennekam, R. C. M.; Dixon, M. J.: Treacher Collins syndrome may result from insertions, deletions, or splicing mutations, which introduce a termination codon into the gene. Hum. Molec. Genet. 5: 1533-1538, 1996.
[0011180]1768.Haworth, K. E.; Islam, I.; Breen, M.; Putt, W.; Makrinou, E.; Binns, M.; Hopkinson, D.; Edwards, Y.: Canine TCOF1; cloning, chromosome assignment and genetic analysis in dogs with different head types. Mammalian Genome 12: 622-629, 2001.
[0011181]1769.Jabs, E. W.; Li, X.; Coss, C. A.; Taylor, E. W.; Meyers, D. A.; Weber, J. L.: Mapping the Treacher Collins syndrome locus to 5q31.3-q33.3. Genomics 11: 193-198, 1991.
[0011182]1770.Jones, N. C.; Farlie, P. G.; Minichiello, J.; Newgreen, D. F. : Detection of an appropriate kinase activity in branchial arches I and II that coincides with peak expression of the Treacher Collins syndrome gene product, treacle. Hum. Mol. Genet. 8: 2239-2245, 1999.
[0011183]1771.Neville, M. J.; Campbell, R. D.: A new member of the Ig superfamily and a V-ATPase G subunit are among the predicted products of novel genes close to the TNF locus in the human MHC. J. Immun. 162: 4745-4754, 1999.
[0011184]1772.Yang, X.-F.; Wu, C. J.; McLaughlin, S.; Chillemi, A.; Wang, K. S.; Canning, C.; Alyea, E. P.; Kantoff, P.; Soiffer, R. J.; Dranoff, G.; Ritz, J.: CML66, a broadly immunogenic tumor antigen, elicits a humoral immune response associated with remission of chronic myelogenous leukemia. Proc. Nat. Acad. Sci. 98: 7492-7497, 2001.
[0011185]1773.Jarrous, N.; Eder, P. S.; Wesolowski, D.; Altman, S.: Rpp14 and Rpp29, two protein subunits of human ribonuclease P. RNA 5: 153-157, 1999.
[0011186]1774.Jarrous, N.; Eder, P. S.; Guerrier-Takada, C.; Hoog, C.; Altman, S.: Autoantigenic properties of some protein subunits of catalytically active complexes of human ribonuclease P. RNA 4: 407-417, 1998.
[0011187]1775.MacArthur, C. A.; Shackleford, G. M.: Npm3: A novel, widely expressed gene encoding a protein related to the molecular chaperones nucleoplasmin and nucleophosmin. Genomics 42: 137-140, 1997.
[0011188]1776.Shackleford, G. M.; Ganguly, A.; MacArthur, C. A.: Cloning, expression and nuclear localization of human NPM3, a member of the nucleophosmin/nucleoplasmin family of nuclear chaperones. BMC Genomics 2: 8, 2001. Note: Electronic Article.
[0011189]1777.Ishiguro, H.; Tsunoda, T.; Tanaka, T.; Fujii, Y.; Nakamura, Y.; Furukawa, Y.: Identification of AXUD1, a novel human gene induced by AXIN1 and its reduced expression in human carcinomas of the lung, liver, colon and kidney. Oncogene 20: 5062-5066, 2001.
[0011190]1778.Zhu, Y.; Qi, C.; Cao, W.-Q.; Yeldandi, A. V.; Rao, M. S.; Reddy, J. K.: Cloning and characterization of PIMT, a protein with a methyltransferase domain, which interacts with and enhances nuclear receptor coactivator PRIP function. Proc. Nat. Acad. Sci. 98: 10380-10385, 2001.
[0011191]1779.Hauf, S.; Waizenegger, I. C.; Peters, J.-M.: Cohesin cleavage by separase required for anaphase and cytokinesis in human cells. Science 293: 1320-1323, 2001.
[0011192]1780.Hoque, M. T.; Ishikawa, F.: Human chromatid cohesin component hRad21 is phosphorylated in M phase and associated with metaphase centromeres. J. Biol. Chem. 276: 5059-5067, 2001.
[0011193]1781.McKay, M. J.; Troelstra, C.; van der Spek, P.; Kanaar, R.; Smit, B.; Hagemeijer, A.; Bootsma, D.; Hoeijmakers, J. H. J.: Sequence conservation of the rad21 Schizosaccharomyces pombe DNA double-strand break repair gene in human and mouse. Genomics 36: 305-315, 1996.
[0011194]1782.Sadano, H.; Sugimoto, H.; Sakai, F.; Nomura, N.; Osumi, T.: NXP-1, a human protein related to Rad21/Scc1/Mcd1, is a component of the nuclear matrix. Biochem. Biophys. Res. Commun. 267: 418-422, 2000.
[0011195]1783.Fukamachi, S.; Shimada, A.; Shima, A.: Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka. Nature Genet. 28: 381-385, 2001.
[0011196]1784.Harada, M.; Li, Y. F.; El-Gamil, M.; Rosenberg, S. A.; Robbins, P. F.: Use of an in vitro immunoselected tumor line to identify shared melanoma antigens recognized by HLA-A*0201-restricted T cells. Cancer Res. 61: 1089-1094, 2001.
[0011197]1785.Newton, J. M.; Cohen-Barak, O.; Hagiwara, N.; Gardner, J. M.; Davisson, M. T.; King, R. A.; Brilliant, M. H.: Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. Am. J. Hum. Genet. 69: 981-988, 2001.
[0011198]1786.Gu, H.; Saito, K.; Klaman, L. D.; Shen, J.; Fleming, T.; Wang, Y.-P.; Pratt, J. C.; Lin, G.; Lim, B.; Kinet, J.-P.; Neel, B. G.: Essential role for Gab2 in the allergic response. Nature 412: 186-190, 2001.
[0011199]1787.Appel, S.; Reichwald, K.; Zimmermann, W.; Reis, A.; Rosenthal, A.; Hennies, H. C.: Identification and localization of a new human myotubularin-related protein gene, MTMR8, on 8p22-p23. Genomics 75: 6-8, 2001.
[0011200]1788.Laporte, J.; Blondeau, F.; Buj-Bello, A.; Mandel, J.-L.: The myotubularin family: from genetic disease to phosphoinositide metabolism. Trends Genet. 17: 221-228, 2001.
[0011201]1789.Ariizumi, K.; Shen, G.-L.; Shikano, S.; Xu, S.; Ritter, R., III; Kumamoto, T.; Edelbaum, D.; Morita, A.; Bergstresser, P. R.; Takashima, A.: Identification of a novel, dendritic cell-associated molecule, dectin-1, by subtractive cDNA cloning. J. Biol. Chem. 275: 20157-20167, 2000.
[0011202]1790.Brown, G. D.; Gordon, S.: A new receptor for beta-glucans. Nature 413: 36-37, 2001.
[0011203]1791.Hernanz-Falcon, P.; Arce, I.; Roda-Navarro, P.; Fernandez-Ruiz, E.: Cloning of human dectin-1, a novel C-type lectin-like receptor gene expressed on dendritic cells. Immunogenetics 53: 288-295, 2001.
[0011204]1792.Yokota, K.; Takashima, A.; Bergstresser, P. R.; Ariizumi, K.: Identification of a human homologue of the dendritic cell-associated C-type lectin-1, dectin-1. Gene 272: 51-60, 2001.
[0011205]1793.Hagen, G.; Muller, S.; Beato, M.; Suske, G.: Sp1-mediated transcriptional activation is repressed by Sp3. EMBO J. 13: 3843-3851, 1994.
[0011206]1794.Kalff-Suske, M.; Kunz, J.; Grzeschik, K.-H.; Suske, G.: Human Sp3 transcriptional regulator gene (SP3) maps to chromosome 2q31. Genomics 37: 410-412, 1996.
[0011207]1795.Kingsley, C.; Winoto, A.: Cloning of GT box-binding proteins: a novel Sp1 multigene family regulating T-cell receptor gene expression. Molec. Cell. Biol. 12: 4251-44261, 1992.
[0011208]1796.Carmeci, C.; Thompson, D. A.; Ring, H. Z.; Francke, U.; Weigel, R. J.: Identification of a gene (GPR30) with homology to the G-protein-coupled receptor superfamily associated with estrogen receptor expression in breast cancer. Genomics 45: 607-617, 1997.
[0011209]1797.Feng, Y.; Gregor, P.: Cloning of a novel member of the G protein-coupled receptor family related to peptide receptors. Biochem. Biophys. Res. Commun. 231: 651-654, 1997.
[0011210]1798.Kvingedal, A. M.; Smeland, E. B.: A novel putative G-protein-coupled receptor expressed in lung, heart and lymphoid tissue. FEBS Lett. 407: 59-62, 1997.
[0011211]1799.Owman, C.; Blay, P.; Nilsson, C.; Lolait, S. J.: Cloning of human cDNA encoding a novel heptahelix receptor expressed in Burkitt's lymphoma and widely distributed in brain and peripheral tissues. Biochem. Biophys. Res. Commun. 228: 285-292, 1996.
[0011212]1800.Takada, Y.; Kato, C.; Kondo, S.; Korenaga, R.; Ando, J.: Cloning of cDNAs encoding G protein-coupled receptor expressed in human endothelial cells exposed to fluid shear stress. Biochem. Biophys. Res. Commun. 240;-737-741, 1997.
[0011213]1801.Cossins, J.; Dudgeon, T. J.; Catlin, G.; Gearing, A J. H.; Clements, J. M.: Identification of MMP-18, a putative novel human matrix metalloproteinase. Biochem. Biophys. Res. Commun. 228: 494-498, 1996.
[0011214]1802.Pendas, A. M.; Knauper, V.; Puente, X. S.; Llano, E.; Mattei, M.-G.; Apte, S.; Murphy, G.; Lopez-Otin, C.: Identification and characterization of a novel human matrix metalloproteinase with unique structural characteristics, chromosomal location, and tissue distribution. J. Biol. Chem. 272: 4281-4286, 1997.
[0011215]1803.Liu, X.; Zou, H.; Slaughter, C.; Wang, X.: DFF, a heterodimeric protein that functions downstream of caspase-3 to trigger DNA fragmentation during apoptosis. Cell 89: 175-184, 1997.
[0011216]1804.Judson, H.; van Roy, N.; Strain, L.; Vandesompele, J.; Van Gele, M.; Speleman, F.; Bonthron, D. T.: Structure and mutation analysis of the gene encoding DNA fragmentation factor 40 (caspase-activated nuclease), a candidate neuroblastoma tumour suppressor gene. Hum. Genet. 106: 406-413, 2000.
[0011217]1805.Liu, X.; Li, P.; Widlak, P.; Zou, H.; Luo, X.; Garrard, W. T.; Wang, X.: The 40-kDa subunit of DNA fragmentation factor induces DNA fragmentation and chromatin condensation during apoptosis. Proc. Nat. Acad. Sci. 95: 8461-8466, 1998.
[0011218]1806.Mukae, N.; Enari, M.; Sakahira, H.; Fukuda, Y.; Inazawa, J.; Toh, H.; Nagata, S.: Molecular cloning and characterization of human caspase-activated DNase. Proc. Nat. Acad. Sci. 95: 9123-9128, 1998.
[0011219]1807.Little, R. D.; Carulli, J. P.; Del Mastro, R. G.; Dupuis, J.; Osborne, M.; Folz, C.; Manning, S. P.; Swain, P. M.; Zhao, S.-C.; Eustace, B.; Lappe, M. M.; Spitzer, L.; and 23 others: A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait. Am. J. Hum. Genet. 70: 11-19, 2002.
[0011220]1808.Sherman, P. M.; Sun, H.; Macke, J. P.; Williams, J.; Smallwood, P. M.; Nathans, J.: Identification and characterization of a conserved family of protein serine/threonine phosphatases homologous to Drosophila retinal degeneration C (rdgC). Proc. Nat. Acad. Sci. 94: 11639-11644, 1997.
[0011221]1809.Ohira, M.; Ootsuyama A.; Suzuki, E.; Ichikawa, H.; Seki, N.; Nagase, T.; Monura, N.; Ohki, M.: Identification of a novel human gene containing the tetratricopeptide repeat domain from the Down syndrome region of chromosome 21. DNA Res. 3: 9-16, 1996.
[0011222]1810.Tsukahara, F.; Hattori, M.; Muraki, T.; Sakaki, Y.: Identification and cloning of a novel cDNA belonging to tetratricopeptide repeat gene family from Down syndrome-critical region 21q22.2. J. Biochem. 120: 820-827, 1996.
[0011223]1811.Albrecht, U.; Sun, Z. S.; Eichele, G.; Lee, C. C.: A differential response to two putative mammalian circadian regulators, mper1 and mper2, to light. Cell 91: 1055-1064, 1997.
[0011224]1812.Bai, J.; Uehara, Y.; Montell, D. J.: Regulation of invasive cell behavior by taiman, a Drosophila protein related to AIB1, a steroid receptor coactivator amplified in breast cancer. Cell 103: 1047-1058, 2000.
[0011225]1813.Chen, H.; Lin, R. J.; Schiltz, R. L.; Chakravarti, D.; Nash, A.; Nagy, L.; Privalsky, M. L.; Nakatani, Y.; Evans, R. M.: Nuclear receptor coactivator ACTR is a novel histone acetyltransferase and forms a multimeric activation complex with P/CAF and CBP/p300. Cell 90: 569-580, 1997.
[0011226]1814.Guan, X.-Y.; Xu, J.; Anzick, S. L.; Zhang, H.; Trent, J. M.; Meltzer, P. S.: Hybrid selection of transcribed sequences from microdissected DNA: isolation of genes within amplified region at 20q11-q13.2 in breast cancer. Cancer Res. 56: 3446-3450, 1996.
[0011227]1815.Shirazi, S. K.; Bober, M. A.; Coetzee, G. A.: Polymorphic exonic CAG microsatellites in the gene amplified in breast cancer (AIB1 gene). Clin. Genet. 54: 102-103, 1998.
[0011228]1816.Takeshita, A.; Cardona, G. R.; Koibuchi, N.; Suen, C.-S.; Chin, W. W.: TRAM-1, a novel 160-kDa thyroid hormone receptor activator molecule, exhibits distinct properties from steroid receptor coactivator-1. J. Biol. Chem. 272: 27629-27634, 1997.
[0011229]1817.Jay, P.; Sahly, I.; Goze, C.; Taviaux, S.; Poulat, F.; Couly, G.; Abitbol, M.; Berta, P.: SOX22 is a new member of the SOX gene family, mainly expressed in human nervous tissue. Hum. Molec. Genet. 6: 1069-1077, 1997.
[0011230]1818.Arrigo, G.; Gherzi, R.; Bonaglia, M. C.; Leprini, A.; Zuffardi, O.; Zardi, L.: Assignment of the tenascin-R gene (Tnr) to mouse chromosome 4 band E2 by fluorescence in situ hybridization; refinement of the human TNR location to chromosome 1q24. Cytogenet. Cell Genet. 78: 145-146, 1997.
[0011231]1819.Carnemolla, B.; Leprini, A.; Borsi, L.; Querze, G.; Urbini, S.; Zardi, L.: Human tenascin-R: complete primary structure, pre-mRNA alternative splicing and gene localization on chromosome 1q23-q24. J. Biol. Chem. 271: 8157-8160, 1996.
[0011232]1820.Erickson, H. P.: Tenascin-C, tenascin-R and tenascin-X: a family of talented proteins in search of functions. Curr. Opin. Cell Biol. 5: 869-876, 1993.
[0011233]1821.Leprini, A.; Gherzi, R.; Siri, A.; Querze, G.; Viti, F.; Zardi, L.: The human tenascin-R gene. J. Biol. Chem. 271: 31251-31254, 1996.
[0011234]1822.Williams, H.; Schachner, M.; Wang, B.; Kenwrick, S.: Radiation hybrid mapping of the genes for tenascin-R (TNR), phosducin (PDC), Laminin C1 (LAMC1), and TAX in 1q25-q32. Genomics 46: 165-166, 1997.
[0011235]1823.Giguere, V.; Yang, N.; Segui, P.; Evans, R. M.: Identification of a new class of steroid hormone receptors. Nature 331: 91-94, 1988.
[0011236]1824.Sladek, R.; Bader, J.-A.; Giguere, V.: The orphan nuclear receptor estrogen-related receptor alpha is a transcriptional regulator of the human medium-chain acyl coenzyme A dehydrogenase gene. Molec. Cell. Biol. 17: 5400-5409, 1997.
[0011237]1825.Sladek, R.; Beatty, B.; Squire, J.; Copeland, N. G.; Gilbert, D. J.; Jenkins, N. A.; Giguere, V.: Chromosomal mapping of the human and murine orphan receptors ERR-alpha (ESRRA) and ERR-beta (ESRRB) and identification of a novel human ERR-alpha-related pseudogene. Genomics 45: 320-326, 1997.
[0011238]1826.Bengtson, P.; Larson, C.; Lundblad, A.; Larson, G.; Pahlsson, P. : Identification of a missense mutation (G329A; arg110-to-gln) in the human FUT7 gene. J. Biol. Chem. 276: 31575-31582, 2001.
[0011239]1827.Mahdavi, J.; Sonden, B.; Hurtig, M.; Olfat, F. O.; Forsberg, L.; Roche, N.; Angstrom, J.; Larsson, T.; Teneberg, S.; Karlsson, K.-A.; Altraja, S.; Wadstrom, T.; and 11 others: Helicobacter pylori SabA adhesin in persistent infection and chronic inflammation. Science 297: 573-578, 2002.
[0011240]1828.Natsuka, S.; Gersten, K. M.; Zenita, K.; Kannagi, R.; Lowe, J. B.: Molecular cloning of a cDNA encoding a novel human leukocyte alpha-1,3-fucosyltransferase capable of synthesizing the sialyl Lewis x determinant. J. Biol. Chem. 269: 16789-16794, 1994.
[0011241]1829.Sasaki, K.; Kurata, K.; Funayama, K.; Nagata, M.; Watanabe, E.; Ohta, S.; Hannai, N.; Nishi, T.: Expression cloning of a novel alpha-1,3-fucosyltransferase that is involved in biosynthesis of the sialyl Lewis x carbohydrate determinants in leukocytes. J. Biol. Chem. 269: 14730-14737, 1994.
[0011242]1830.Eudy, J. D.; Ma-Edmonds, M.; Yao, S.-F.; Talmadge, C. B.; Kelley, P. M.; Weston, M. D.; Kimberling, W. J.; Sumegi, J.: Isolation of a novel human homologue of the gene coding for echinoderm microtubule-associated protein (EMAP) from the Usher syndrome type 1a locus at 14q32. Genomics 43: 104-106, 1997.
[0011243]1831.Bale, T. L.; Contarino, A.; Smith, G. W.; Chan, R.; Gold, L. H.; Sawchenko, P. E.; Koob, G. F.; Vale, W. W.; Lee, K.-F.: Mice deficient for corticotropin-releasing hormone receptor-2 display anxiety-like behaviour and are hypersensitive to stress. Nature Genet. 24: 410-414, 2000.
[0011244]1832.Coste, S. C.; Kesterson, R. A.; Heldwein, K. A.; Stevens, S. L.; Heard, A. D.; Hollis, J. H.; Murray, S. E.; Hill, J. K.; Pantely, G. A.; Hohimer, A. R.; Hatton, D. C.; Phillips, T. J.; Finn, D. A.; Low, M. J.; Rittenberg, M. B.; Stenzel, P.; Stenzel-Poore, M. P.: Abnormal adaptations to stress and impaired cardiovascular function in mice lacking corticotropin-releasing hormone receptor-2. Nature Genet. 24: 403-409, 2000.
[0011245]1833.Hsu, S. Y.; Hsueh, A. J. W.: Human stresscopin and stresscopin-related peptide are selective ligands for the type 2 corticotropin-releasing hormone receptor. Nature Med. 7: 605-611, 2001.
[0011246]1834.Kishimoto, T.; Radulovic, J.; Radulovic, M.; Lin, C. R.; Schrick, C.; Hooshmand, F.; Hermanson, O.; Rosenfeld, M. G.; Spiess, J.: Deletion of Crhr2 reveals an anxiolytic role for corticotropin-releasing hormone receptor-2. Nature Genet. 24: 415-419, 2000.
[0011247]1835.Kostich, W. A.; Chen, A.; Sperle, K.; Largent, B. L.: Molecular identification and analysis of a novel human corticotropin-releasing factor (CRF) receptor: the CRF2-gamma receptor. Molec. Endocr. 12: 1077-1085, 1998.
[0011248]1836.Lesh, J. S.; Burrows, H. L.; Seasholtz, A. F.; Camper, S. A.: Mapping of the mouse corticotropin-releasing hormone receptor 2 gene (Crhr2) to chromosome 6. Mammalian Genome 8: 944-945, 1997.
[0011249]1837.Liaw, C. W.; Lovenberg, T. W.; Barry, G.; Oltersdorf, T.; Grigoriadis, D. E.; De Souza, E. B.: Cloning and characterization of the human corticotropin-releasing factor-2 receptor complementary deoxyribonucleic acid. Endocrinology 137: 72-77, 1996.
[0011250]1838.Meyer, A. H.; Ullmer, C.; Schmuck, K.; Morel, C.; Wishart, W.; Lubbert, H.; Engels, P.: Localization of the human CRF2 receptor to 7p21-p15 by radiation hybrid mapping and FISH analysis. Genomics 40: 189-190, 1997.
[0011251]1839.Dallery, E.; Galiegue-Zouitina, S.; Collyn-d'Hooghe, M.; Quief, S.; Denis, C.; Hildebrand, M.-P.; Lantoine, D.; Deweindt, C.; Tilly, H.; Bastard, C.; Kerckaert, J.-P.: TTF, a gene encoding a novel small G protein, fuses to the lymphoma-associated LAZ3 gene by t(3;4) chromosomal translocation. Oncogene 10: 2171-2178, 1995.
[0011252]1840.Dallery-Prudhomme, E.; Roumier, C.; Denis, C.; Preudhomme, C.; Kerckaert, J.-P.; Galiegue-Zouitina, S.: Genomic structure and assignment of the RhoH/TTF small GTPase gene (ARHH) to 4p13 by in situ hybridization. Genomics 43: 89-94, 1997.
[0011253]1841.Aaltonen, J.; Bjorses, P.; Sandkuijl, L.; Perheentupa, J.; Peltonen, L.: An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21. Nature Genet. 8: 83-87, 1994.
[0011254]1842.Aaltonen, J.; Horelli-Kuitunen, N.; Fan, J.-B.; Bjorses, P.; Perheentupa, J.; Myers, R.; Palotie, A.; Peltonen, L.: High-resolution physical and transcriptional mapping of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy locus on chromosome 21q22.3 by FISH. Genome Res. 7: 820-829, 1997.
[0011255]1843.Ahonen, P.: Autoimmune polyendocrinopathy--candidosis--ectodermal dystrophy (APECED): autosomal recessive inheritance. Clin. Genet. 27: 535-542, 1985.
[0011256]1844.Ahonen, P.; Myllarniemi, S.; Sipila, I.; Perheentupa, J.: Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients. New Eng. J. Med. 322: 1829-1836, 1990.
[0011257]1845.Arulanantham, K.; Kwyer, J. M.; Genel, M.: Evidence for defective immunoregulation in the syndrome of familial candidiasis endocrinopathy. New Eng. J. Med. 300: 164-168, 1979.
[0011258]1846.Betterle, C.; Greggio, N. A.; Volpato, M.: Autoimmune polyglandular syndrome type 1. J. Clin. Endocr. Metab. 83: 1049-1055, 1998.
[0011259]1847.Bjorses, P.; Aaltonen, J.; Vikman, A.; Perheentupa, J.; Ben-Zion, G.; Chiumello, G.; Dahl, N.; Heideman, P.; Hoorweg-Nijman, J. J. G.; Mathivon, L.; Mullis, P. E.; Pohl, M.; Ritzen, M.; Romeo, G.; Shapiro, M. S.; Smith, C. S.; Solyom, J.; Zlotogora, J.; Peltonen, L.: Genetic homogeneity of autoimmune polyglandular disease type I. Am. J. Hum. Genet. 59: 879-886, 1996.
[0011260]1848.Bjorses, P.; Halonen, M.; Palvimo, J. J.; Kolmer, M.; Aaltonen, J.; Ellonen, P.; Perheentupa, J.; Ulmanen, I.; Peltonen, L.: Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein. Am. J. Hum. Genet. 66: 378-392, 2000.
[0011261]1849.Bjorses, P.; Pelto-Huikko, M.; Kaukonen, J.; Aaltonen, J.; Peltonen, L.; Ulmanen, I.: Localization of the APECED protein in distinct nuclear structures. Hum. Molec. Genet. 8: 259-266, 1999.
[0011262]1850.Blizzard, R. M.; Kyle, M. A.: Studies of the adrenal antigens and antibodies in Addison's disease. J. Clin. Invest. 42: 1653-1660, 1963.
[0011263]1851.Castells, S.; Fikrig, S.; Inamdar, S.; Orti, E.: Familial moniliasis, defective delayed hypersensitivity, and adrenocorticotropic hormone deficiency. J. Pediat. 79: 72-79, 1971.
[0011264]1852.Kim, S. H.; Moores, J. C.; David, D.; Respess, J. G.; Jolly, D. J.; Friedmann, T.: The organization of the human HPRT gene. Nucleic Acids Res. 14: 3103-3118, 1986.
[0011265]1853.Alkhayat, A. H.; Kraemer, S. A.; Leipprandt, J. R.; Macek, M.; Kleijer, W. J.; Friderici, K. H.: Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis. Hum. Molec. Genet. 7: 75-83, 1998.
[0011266]1854.Cooper, A.; Hatton, C.; Thornley, M.; Sardharwalla, I. B.: Human beta-mannosidase deficiency: biochemical findings in plasma, fibroblasts, white cells and urine. J. Inherit. Metab. Dis. 11: 17-29, 1988.
[0011267]1855.Cooper, A.; Sardharwalla, I. B.; Roberts, M. M.: Human beta-mannosidase deficiency. (Letter) New Eng. J. Med. 315: 1231, 1986.
[0011268]1856.Dorland, L.; Duran, M.; Hoefnagels, F. E. T.; Breg, J. N.; Fabery de Jonge, H.; Cransberg, K.; van Sprang, F. J.; van Diggelen, O. P. : Beta-mannosidosis in two brothers with hearing loss. J. Inherit. Metab. Dis. 11 (suppl. 2): 255-258, 1988.
[0011269]1857.Hu, P.; Wenger, D. A.; van Diggelen, O. P.; Klejer, W. J.: Complementation studies in human and caprine beta-mannosidosis. J. Inherit. Metab. Dis. 14: 13, 1990.
[0011270]1858.Jones, M. Z.; Abbitt, B.: Animal model of human disease: bovine beta-mannosidosis. Am. J. Path. 142: 957-960, 1993.
[0011271]1859.Jones, M. Z.; Cunningham, J. G.; Dade, A. W.; Alessi, D. M.; Mostosky, U. V.; Vorro, J. R.; Benitez, J. T.; Lovell, K. L.: Caprine beta-mannosidosis: clinical and pathological features. J. Neuropath. Exp. Neurol. 42: 268-285, 1983.
[0011272]1860.Jones, M. Z.; Dawson, G.: Caprine beta-mannosidosis: inherited deficiency of beta-Dmannosidase. J. Biol. Chem. 256: 5185-5188, 1981.
[0011273]1861.Kleijer, W. J.; Hu, P.; Thoomes, R.; Boer, M.; Huijmans, J. G. M.; Blom, W.; Van Diggelen, O. P.; Seemanova, E.; Macek, M.: Beta-mannosidase deficiency: heterogeneous manifestation in the first female patient and her brother. J. Inherit. Metab. Dis. 13: 867-872, 1990.
[0011274]1862.Leipprandt, J. R.; Kraemer, S. A.; Haithcock, B. E.; Chen, H.; Dyme, J. L.; Cavanagh, K. T.; Friderici, K. H.; Jones, M. Z.: Caprine beta-mannosidase: sequencing and characterization of the cDNA and identification of the molecular defect of caprine beta-mannosidosis. Genomics 37: 51-56, 1996.
[0011275]1863.Levade, T.; Graber, D.; Flurin, V.; Delisle, M.-B.; Pieraggi, M.-T.; Testut, M.-F.; Carriere, J.-P.; Salvayre, R.: Human beta-mannosidase deficiency associated with peripheral neuropathy. Ann. Neurol. 35: 116-119, 1994.
[0011276]1864.Lovell, K. L.; Jones, M. Z.: Distribution of central nervous system lesions in betamannosidosis. Acta Neuropath. 62: 121-126, 1983.
[0011277]1865.Lundin, L.-G.: A gene (Bmn) controlling beta-mannosidase activity in the mouse is located in the distal part of chromosome 3. Biochem. Genet. 25: 603-610, 1987.
[0011278]1866.Malachowski, J. A.; Jones, M. Z.: Beta-mannosidosis: lesions of the distal peripheral nervous system. Acta Neuropath. 61: 95-100, 1983.
[0011279]1867.Poenaru, L.; Akli, S.; Rocchiccioli, F.; Eydoux, P.; Zamet, P. : Human betamannosidosis: a 3-year-old boy with speech impairment and emotional instability. Clin. Genet. 41: 331-334, 1992.
[0011280]1868.Rodriguez-Serna, M.; Botella-Estrada, R.; Chabas, A.; Coll, M.-J.; Oliver, V.; Febrer, M.-I.; Aliaga, A.: Angiokeratoma corporis diffusum associated with beta-mannosidase deficiency. Arch. Derm. 132: 1219-1222, 1996.
[0011281]1869.Wenger, D. A.; Sujansky, E.; Fennessey, P. V.; Thompson, J. N. : Human betamannosidase deficiency. New Eng. J. Med. 315: 1201-1205, 1986.
[0011282]1870.Bloom, G. E.; Zarkowsky, H. S.: Heterogeneity of the enzyme defect in congenital methemoglobinemia. New Eng. J. Med. 281: 919-922, 1970.
[0011283]1871.Aalfs, C. M.; Salieb-Beugelaar, G. B.; Wanders, R. J. A.; Mannens, M. M. A. M.; Wijburg, F. A.: A case of methemoglobinemia type II due to NADH-cytochrome b5 reductase deficiency: determination of the molecular basis. Hum. Mutat. 16: 18-22, 2000.
[0011284]1872.Balsamo, P.; Hardy, W. R.; Scott, E. M.: Hereditary methemoglobinemia due to diaphorase deficiency in Navajo Indians. J. Pediat. 65: 928-930, 1964.
[0011285]1873.Board, P. G.; Pidcock, M. E.: Methaemoglobinaemia resulting from heterozygosity for two NADH-methaemoglobin reductase variants: characterization as NADH-ferricyanide reductase. Brit. J. Haemat. 47: 361-370, 1981.
[0011286]1874.Bull, P. C.; Shephard, E. A.; Povey, S.; Santisteban, I.; Phillips, I. R.: Cloning and chromosomal mapping of human cytochrome b(5) reductase (DIA1). Ann. Hum. Genet. 52: 263-268, 1988.
[0011287]1875.Cawein, M. J.; Behlen, C. H.; Lappat, E. J.; Cohn, J. E.: Hereditary diaphorase deficiency and methemoglobinemia. Arch. Intern. Med. 113: 578-585, 1964.
[0011288]1876.Choury, D.; Leroux, A.; Kaplan, J.-C.: Membrane-bound cytochrome b5 reductase (methemoglobin reductase) in human erythrocytes: study in normal and methemoglobinemic subjects. J. Clin. Invest. 67: 149-155, 1981.
[0011289]1877.Cohen, R. J.; Sachs, J. R.; Wicker, D. J.; Conrad, M. E.: Methemoglobinemia provoked by malarial chemoprophylaxis in Vietnam. New Eng. J. Med. 279: 1127-1131, 1968.
[0011290]1878.Comly, H. H.: Cyanosis in infants caused by nitrates in well water. J.A.M.A. 129: 112-116, 1945.
[0011291]1879.Dekker, J.; Eppink, M. H. M.; van Zwieten, R.; de Rijk, R.; Remacha, A. F.; Law, L. K.; Li, A. M.; Cheung, K. L.; van Berkel, W. J. H.; Roos, D.: Seven new mutations in the nicotinamide adenine dinucleotide reduced-cytochrome b5 reductase gene leading to methemoglobinemia type I. Blood 97: 1106-1114, 2001.
[0011292]1880.Du, M.; Shirabe, K.; Takeshita, M.: Identification of alternative first exons of NADHcytochrome b5 reductase gene expressed ubiquitously in human cells. Biochem. Biophys. Res. Commun. 235: 779-783, 1997.
[0011293]1881.Fialkow, P. J.; Browder, J. A.; Sparkes, R. S.; Motulsky, A. G. : Mental retardation in methemoglobinemia due to diaphorase deficiency. New Eng. J. Med. 273: 840-845, 1965.
[0011294]1882.Fisher, R. A.; Povey, S.; Bobrow, M.; Solomon, E.; Boyd, Y.; Carritt, B.: Assignment of the DIA-1 locus to chromosome 22. Ann. Hum. Genet. 41: 151-155, 1977.
[0011295]1883.Gibson, Q. H.: Methemoglobinemia--long ago and far away. Am. J. Hemat. 42: 3-6, 1993.
[0011296]1884.Gonzalez, R.; Estrada, M.; Wade, M.; de la Torre, E.; Svarch, E.; Fernandez, O.; Oritz, R.; Guzman, E.; Colombo, B.: Heterogeneity of hereditary methaemoglobinaemia: a study of 4 Cuban families with NADH-methaemoglobin reductase deficiency including a new variant (Santiage de Cuba variant). Scand. J. Haemat. 20: 385-393, 1978.
[0011297]1885.Hirano, M.; Matsuki, T.; Tanishima, K.; Takeshita, M.; Shimizu, S.; Nagamura, Y.; Yoneyama, Y.: Congenital methaemoglobinaemia due to NADH methaemoglobin reductase deficiency: successful treatment with oral riboflavin. Brit. J. Haemat. 47: 353-359, 1981.
[0011298]1886.Moerman, P.; Fryns, J.-P.; Devlieger, H.; Van Assche, A.; Lauweryns, J.: Congenital eventration of the diaphragm: an unusual cause of intractable neonatal respiratory distress with variable etiology. Am. J. Med. Genet. 27: 213-218, 1987.
[0011299]1887.Tsai, H.-M.: Physiologic cleavage of von Willebrand factor by a plasma protease is dependent on its conformation and requires calcium ion. Blood 87: 4235-4244, 1996.
[0011300]1888.Tsai, H.-M.; Lian, E. C.-Y.: Antibodies to von Willebrand factor-cleaving protease in acute thrombotic thrombocytopenic purpura. New Eng. J. Med. 339: 1585-1594, 1998.
[0011301]1889.Baek, S. J.; Lee, K.-D.; Shen, R.-F.: Genomic structure and polymorphism of the human thromboxane synthase-encoding gene. Gene 173: 251-256, 1996.
[0011302]1890.Chase, M. B.; Baek, S. J.; Purtell, D. C.; Schwartz, S.; Shen, R.-F.: Mapping of the human thromboxane synthase gene (TBXAS1) to chromosome 7q34-q35 by two-color fluorescence in situ hybridization. Genomics 16: 771-773, 1993.
[0011303]1891.Metsel, F.; Oetliker, O.; Beck, E.; Felix, R.; Imbach, P.; Wagner, H.-P.: Severe bleeding associated with defective thromboxane synthetase. (Letter) Lancet I: 157, 1980.
[0011304]1892.Miyata, A.; Yokoyama, C.; Ihara, H.; Bandoh, S.; Takeda, O.; Takahashi, E.; Tanabe, T.: Characterization of the human gene (TBXAS1) encoding thromboxane synthase. Europ. J. Biochem. 224: 273-279, 1994.
[0011305]1893.Nebert, D. W.: Personal Communication. Cincinnati, Ohio 5/9/1994.
[0011306]1894.Pareti, F. I.; Mannucci, P. M.; D'Angelo, A.; Smith, J. B.; Sautebin, L.; Galli, G.: Congenital deficiency of thromboxane and prostacyclin. Lancet I: 898-900, 1980.
[0011307]1895.Weiss, H. J.; Lages, B. A.: Possible congenital defect in platelet thromboxane synthetase. (Letter) Lancet II: 760-761, 1977.
[0011308]1896.Yokoyama, C.; Miyata, A.; Ihara, H.; Ullrich, V.; Tanabe, T.: Molecular cloning of human platelet thromboxane A synthase. Biochem. Biophys. Res. Commun. 178: 1479-1484, 1991.
[0011309]1897.Zhang, L.; Xiao, H.; Schultz, R. A.; Shen, R.-F.: Genomic organization, chromosomal localization, and expression of the murine thromboxane synthase gene (Tbxas1). Genomics 45: 519-528, 1997.
[0011310]1898.Nagase, T.; Ishikawa, K.; Nakajima, D.; Ohira, M.; Seki, N.; Miyajima, N.; Tanaka, A.; Kotani, H.; Nomura, N.; Ohara, O.: Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. DNA Res. 4: 141-150, 1997.
[0011311]1899.Di Como, C. J.; Arndt, K. T.: Nutrients, via the Tor proteins, stimulate the association of Tap42 with type 2A phosphatases. Genes Dev. 10: 1904-1916, 1996.
[0011312]1900.Inui, S.; Kuwahara, K.; Mizutani, J.; Maeda, K.; Kawai, T.; Nakayasu, H.; Sakaguchi, N.: Molecular cloning of a cDNA clone encoding a phosphoprotein component related to the Ig receptormediated signal transduction. J. Immun. 154: 2714-2723, 1995.
[0011313]1901.Onda, M.; Inui, S.; Maeda, K.; Suzuki, M.; Takahashi, E.; Sakaguchi, N.: Expression and chromosomal localization of the human alpha-4/IGBP1 gene, the structure of which is closely related to the yeast TAP42 protein of the rapamycin-sensitive signal transduction pathway. Genomics 46: 373-378, 1997.
[0011314]1902.Prueitt, R. L.; Ross, J. L.; Zinn, A. R.: Physical mapping of nine Xq translocation breakpoints and identification of XPNPEP2 as a premature ovarian failure candidate gene. Cytogenet. Cell Genet. 89: 44-50, 2000.
[0011315]1903.Sprinkle, T. J.; Stone, A. A.; Venema, R. C.; Denslow, N. D.; Caldwell, C.; Ryan, J. W.: Assignment of the membrane-bound human aminopeptidase P gene (XPNPEP2) to chromosome Xq25. Genomics 50: 114-116, 1998.
[0011316]1904.Venema, R. C.; Ju, H.; Zou, R.; Venema, V. J.; Ryan, J. W.: Cloning and tissue distribution of human membrane-bound aminopeptidase P. Biochim. Biophys. Acta 1354: 45-48, 1997.
[0011317]1905.Dear, N.; Matena, K.; Vingron, M.; Boehm, T.: A new subfamily of vertebrate calpains lacking a calmodulin-like domain: implications for calpain regulation and evolution. Genomics 45: 175-184, 1997.
[0011318]1906.Whiting, P. J.; Bonnert, T. P.; McKernan, R. M.; Farrar, S.; le Bourdelles, B.; Heavens, R. P.; Smith, D. W.; Hewson, L.; Rigby, M. R.; Sirinathsinghji, D. J. S.; Thompson, S. A.; Wafford, K. A.: Molecular and functional diversity of the expanding GABA-A receptor gene family. Ann. N.Y. Acad. Sci. 645-653, 1999.
[0011319]1907.Langnaese, K.; Colleaux, L.; Kloos, D. U.; Fontes, M.; Wieacker, P.: Cloning of Z39Ig, a novel gene with immunoglobulin-like domains located on human chromosome X. Biochim. Biophys. Acta 1492: 522-525, 2000.
[0011320]1908.Abo, A.; Qu, J.; Cammarano, M. S.; Dan, C.; Fritsch, A.; Baud, V.; Belisle, B.; Minden, A.: PAK4, a novel effector for Cdc42Hs, is implicated in the reorganization of the actin cytoskeleton and in the formation of filopodia. EMBO J. 17: 6527-6540, 1998.
[0011321]1909.Zhang, F.; Zhang, W.; Liu, L.; Fisher, C. L.; Hui, D.; Childs, S.; Dorovini-Zis, K.; Ling, V.: Characterization of ABCB9, an ATP binding cassette protein associated with lysosomes. J. Biol. Chem. 275: 23287-23294, 2000.
[0011322]1910.Seki, N.; Yoshikawa, T.; Hattori, A.; Miyajima, N.; Muramatsu, M.; Saito, T.: cDNA cloning of a human RAB26-related gene encoding a Ras-like GTP-binding protein on chromosome 16p13.3 region. J. Hum. Genet. 45: 309-314, 2000.
[0011323]1911.Lee, J.; Ho, W.-H.; Maruoka, M.; Corpuz, R. T.; Baldwin, D. T.; Foster, J. S.; Goddard, A. D.; Yansura, D. G.; Vandlen, R. L.; Wood, W. L.; Gurney, A. L.: IL-17E, a novel proinflammatory ligand for the IL-17 receptor homolog IL-17Rh1. J. Biol. Chem. 276: 1660-1664, 2001.
[0011324]1912.Tian, E.; Sawyer, J. R.; Largaespada, D. A.; Jenkins, N. A.; Copeland, N. G.; Shaughnessy, J. D., Jr.: Evi27 encodes a novel membrane protein with homology to the IL17 receptor. Oncogene 19: 2098-2109, 2000.
[0011325]1913.Buanne, P.; Corrente, G.; Micheli, L.; Palena, A.; Lavia, P.; Spadafora, C.; Lakshmana, M. K.; Rinaldi, A.; Banfi, S.; Quarto, M.; Bulfone, A.; Tirone, F.: Cloning of PC3B, a novel member of the PC3/BTG/TOB family of growth inhibitory genes, highly expressed in the olfactory epithelium. Genomics 68: 253-263, 2000.
[0011326]1914.Yoshida, Y.; Matsuda, S.; Ikematsu, N.; Kawamura-Tsuzuku, J.; Inazawa, J.; Umemori, H.; Yamamoto, T.: ANA, a novel member of Tob/BTG1 family, is expressed in the ventricular zone of the developing central nervous system. Oncogene 16: 2687-2693, 1998.
[0011327]1915.Ueki, N.; Oda, T.; Kondo, M.; Yano, K.; Noguchi, T.; Muramatsu, M.: Selection system for genes encoding nuclear-targeted proteins. Nat. Biotech. 16: 1338-1342, 1998.
[0011328]1916.Ueki, N.; Seki, N.; Yano, K.; Masuho, Y.; Saito, T.; Muramatsu, M.: Isolation and characterization of a novel human gene (HFB30) which encodes a protein with a RING finger motif. Biochim. Biophys. Acta 232-236, 1999.
[0011329]1917.Oikawa, E.; Iijima, H.; Suzuki, T.; Sasano, H.; Sato, H.; Kamataki, A.; Nagura, H.; Kang, M. J.; Fujino, T.; Suzuki, H.; Yamamoto, T. T.: A novel acyl-CoA synthetase, ACS5, expressed in intestinal epithelial cells and proliferating preadipocytes. J. Biochem. 124: 679-685, 1998.
[0011330]1918.Yamashita, Y.; Kumabe, T.; Cho, Y.-Y.; Watanabe, M.; Kawagishi, J.; Yoshimoto, T.; Fujino, T.; Kang, M.-J.; Yamamoto, T. T. Fatty acid induced glioma cell growth is mediated by the acyl-CoA synthetase 5 gene located on chromosome 10q25.1-q25.2, a region frequently deleted in malignant gliomas. Oncogene 19: 5919-5925, 2000.
[0011331]1919.Meng, X.; Lu, X.; Li, Z.; Green, E. D.; Massa, H.; Trask, B. J.; Morris, C. A.; Keating, M. T.: Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes. Hum. Genet. 103: 590-599, 1998.
[0011332]1920.Jones, M. H.; Hamana, N.; Nezu, J.; Shimane, M.: A novel family of bromodomain genes. Genomics 63: 40-45, 2000.
[0011333]1921.Lu, X.; Meng, X.; Morris, C. A.; Keating, M. T.: A novel human gene, WSTF, is deleted in Williams syndrome. Genomics 54: 241-249, 1998.
[0011334]1922.Peoples, R. J.; Cisco, M. J.; Kaplan, P.; Francke, U.: Identification of the WBSCR9 gene, encoding a novel transcriptional regulator, in the Williams-Beuren syndrome deletion at 7q11.23. Cytogenet. Cell Genet. 82: 238-246, 1998.
[0011335]1923.Yano, H.; Wang, C.-Z.; Yamashita, S.; Yokoyama, Y.; Yokoi, N.; Seino, S.: Assignment of the human solute carrier family 4, sodium bicarbonate cotransporter-like, member 10 gene (SLC4A10) to 2q23-q24 by in situ hybridization and radiation hybrid mapping. Cytogenet. Cell Genet. 89: 276-277, 2000.
[0011336]1924.Mitchelmore, C.; Troelsen, J. T.; Sjostrom, H.; Noren, O.: The HOXC11 homeodomain protein interacts with the lactose-phlorizin hydrolase promoter and stimulates HNF1-alpha-dependent transcription. J. Biol. Chem. 273: 13297-13306, 1998.
[0011337]1925.Watson, M. A.; Darrow, C.; Zimonjic, D. B.; Popescu, N.; Fleming, T. P.: Structure and transcriptional regulation of the human mammaglobin gene, a breast cancer associated member of the uteroglobin gene family localized to chromosome 11q13. Oncogene 16: 817-824, 1998.
[0011338]1926.Watson, M. A.; Fleming, T. P.: Mammaglobin, a mammary-specific member of the uteroglobin gene family, is overexpressed in human breast cancer. Cancer Res. 56: 860-865, 1996.
[0011339]1927.Watson, M. A.; Fleming, T. P.: Isolation of differentially expressed sequence tags from human breast cancer. Cancer Res. 54: 4598-4602, 1994.
[0011340]1928.Seki, N., Hattori, A.; Hayashi, A.; Kozuma, S.; Ohira, M.; Hori, T.; Saito, T.: Structure, expression profile and chromosomal location of an isolog of DNA-PKcs interacting protein (KIP) gene. Biochim. Biophys. Acta 1444: 143-147, 1999.
[0011341]1929.Scott, D. A.; Drury, S.; Sundstrom, R. A.; Bishop, J.; Swiderski, R. E.; Carmi, R.; Ramesh, A.; Elbedour, K.; Srisailapathy, C. R. S.; Keats, B. J.; Sheffield, V. C.; Smith, R. J. H.: Refining the DFNB7-DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2. Gene 246: 265-274, 2000.
[0011342]1930.Lancaster, J. M.; Wooster, R.; Mangion, J.; Phelan, C. M.; Cochran, C.; Gumbs, C.; Seal, S.; Barfoot, R.; Collins, N.; Bignell, G.; Patel, S.; Hamoudi, R.; Larsson, C.; Wiseman, R. W.; Berchuck, A.; Iglehart, J. D.; Marks, J. R.; Ashworth, A.; Stratton, M. R.; Futreal, P. A. : BRCA2 mutations in primary breast and ovarian cancers. Nature Genet. 13: 238-240, 1996.
[0011343]1931.Lee, H.; Trainer, A. H.; Friedman, L. S.; Thistlethwaite, F. C.; Evans, M. J.; Ponder, B. A. J.; Venkitaraman, A. R.: Mitotic checkpoint inactivation fosters transformation in cells lacking the breast cancer susceptibility gene, Brca2. Molec. Cell 4: 1-10, 1999.
[0011344]1932.Lerer, I.; Wang, T.; Peretz, T.; Sagi, M.; Kaduri, L.; Orr-Urtreger, A.; Stadler, J.; Gutman, H.; Abeliovich, D.: The 8765delAG mutation in BRCA2 is common among Jews of Yemenite extraction. (Letter) Am. J. Hum. Genet. 63: 272-274, 1998.
[0011345]1933.Miki, Y.; Katagiri, T.; Kasumi, F.; Yoshimoto, T.; Nakamura, Y. : Mutation analysis in the BRCA2 gene in primary breast cancers. Nature Genet. 13: 245-247, 1996.
[0011346]1934.Milner, J.; Ponder, B.; Hughes-Davies, L.; Seltmann, M.; Kouzarides, T.: Transcriptional activation functions in BRCA2. (Letter) Nature 386: 772-773, 1997.
[0011347]1935.Moynahan, M. E.; Pierce, A. J.; Jasin, M.: BRCA2 is required for homology-directed repair of chromosomal breaks. Molec. Cell 7: 263-272, 2001.
[0011348]1936.Nastiuk, K. L.; Mansukhani, M.; Terry, M. B.; Kularatne, P.; Rubin, M. A.; Melamed, J.; Gammon, M. D.; Ittmann, M.; Krolewski, J. J.: Common mutations in BRCA1 and BRCA2 do not contribute to early prostate cancer in Jewish men. Prostate 40: 172-177, 1999.
[0011349]1937.Neuhausen, S.; Gilewski, T.; Norton, L.; Tran, T.; McGuire, P.; Swensen, J.; Hampel, H.; Borgen, P.; Brown, K.; Skolnick, M.; Shattuck-Eidens, D.; Jhanwar, S.; Goldgar, D.; Offit, K.: Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected by breast cancer. Nature Genet. 13: 126-128, 1996.
[0011350]1938.Neuhausen, S. L.; Godwin, A. K.; Gershoni-Baruch, R.; Schubert, E.; Garbert, J.; Stoppa-Lyonnet, D.; Olah, E.; Csokay, B.; Serova, O.; Lalloo, F.; Osorio, A.; Stratton, M.; and 18 others: Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: Results of an international study. Am. J. Hum. Genet. 62: 1381-1388, 1998.
[0011351]1939.Neuhausen, S. L.; Godwin, A. K.; Gershoni-Baruch, R.; Shubert, E.; Garber, J.; Stoppa-Lyonnet, D.; Olah, E.; Csokay, B.; Serova, O.; Lalloo, F.; Osorio, A.; Stratton, M.; and 18 others: Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: results of an international study. Am. J. Hum. Genet. 62: 1381-1388, 1998.
[0011352]1940.Oddoux, C.; Struewing, J. P.; Clayton, C. M.; Neuhausen, S.; Brody, L. C.; Kaback, M.; Haas, B.; Norton, L.; Borgen, P.; Jhanwar, S.; Goldgar, D.; Ostrer, H.; Offit, K.: The carrier frequency of the BRCA2 6174delT mutation among Ashkenazi Jewish individuals is approximately 1%. Nature Genet. 14: 188-190, 1996.
[0011353]1941.Ozcelik, H.; Schmocker, B.; Di Nicola, N.; Shi, X.-H.; Langer, B.; Moore, M.; Taylor, B. R.; Narod, S. A.; Darlington, G.; Andrulis, I. L.; Gallinger, S.; Redston, M.: Germline BRCA2 6174delT mutations in Ashkenazi Jewish pancreatic cancer patients. (Letter) Nature Genet. 16: 17-18, 1997.
[0011354]1942.Patel, K. J.; Yu, V. P. C. C.; Lee, H.; Corcoran, A.; Thistlethwaite, F. C.; Evans, M. J.; Colledge, W. H.; Friedman, L. S.; Ponder, B. A. J.; Venkitaraman, A. R.: Involvement of Brca2 in DNA repair. Molec. Cell 1: 347-357, 1998.
[0011355]1943.Hu, X.; Ray, P. N.; Murphy, E. G.; Thompson, M. W.; Worton, R. G.: Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation. Am. J. Hum. Genet. 46: 682-695, 1990.
[0011356]1944.Hu, X.; Ray, P. N.; Worton, R. G.: Mechanisms of tandem duplication in the Duchenne muscular dystrophy gene include both homologous and nonhomologous intrachromosomal recombination. EMBO J. 10: 2471-2477, 1991.
[0011357]1945.Hu, X.; Worton, R. G.: Partial gene duplication as a cause of human disease. Hum. Mutat. 1: 3-12, 1992.
[0011358]1946.Ingram, V. M.: Gene evolution and the haemoglobins. Nature 189: 704-708, 1961.
[0011359]1947.Itagaki, Y.; Saida, K.; Iwamura, K.: Regenerative capacity of mdx mouse muscles after repeated applications of myo-necrotic bupivacaine. Acta Neuropath. 89: 380-384, 1995.
[0011360]1948.Kaplan, J.-C.; Kahn, A.; Chelly, J.: Illegitimate transcription: its use in the study of inherited disease. Hum. Mutat. 1: 357-360, 1992.
[0011361]1949.Kavaslar, G. N.; Telatar, M.; Serdaroglu, P.; Deymeer, F.; Ozdemir, C.; Tolun, A.: Identification of a one-basepair deletion in exon 6 of the dystrophin gene. Hum. Mutat. 6: 85-86, 1995.
[0011362]1950.Kilimann, M. W.; Pizzuti, A.; Grompe, M.; Caskey, C. T.: Point mutations and polymorphisms in the human dystrophin gene identified in genomic DNA sequences amplified by multiplex PCR. Hum. Genet. 89: 253-258, 1992.
[0011363]1951.Kim, T.-W.; Wu, K.; Black, I. B.: Deficiency of brain synaptic dystrophin in human Duchenne muscular dystrophy. Ann. Neurol. 38: 446-449, 1995.
[0011364]1952.Kneppers, A. L. J.; Deutz-Terlouw, P. P.; van Ommen, G. J. B.; Bakker, E.: Point mutation screening for Duchenne muscular dystrophy (DMD) by SSCP-analysis of multiplex PCR products by use of the PhastSystem (TM). Am. J. Hum. Genet. Suppl. 53: Abstract-1493, 1993.
[0011365]1953.Ostendorff, H. P.; Bossenz, M.; Mincheva, A.; Copeland, N. G.; Gilbert, D. J.; Jenkins, N. A.; Lichter, P.; Bach, I.: Functional characterization of the gene encoding RLIM, the corepressor of LIM homeodomain factors. Genomics 69: 120-130, 2000.
[0011366]1954.Ostendorff, H. P.; Peirano, R. I.; Peters, M. A.; Schluter, A.; Bossenz, M.; Scheffner, M.; Bach, I.: Ubiquitination-dependent cofactor exchange on LIM homeodomain transcription factors. Nature 416: 99-103, 2002.
[0011367]1955.Koenig, M.: Personal Communication. Boston, Mass. 10/8/1987. 100. Koenig, M.; Beggs, A. H.; Moyer, M.; Scherpf, S.; Heindrich, K.; Bettecken, T.; Meng, G.; Muller, C. R.; Lindlof, M.; Kaariainen, H.; de la Chapelle, A.; Kiuru, A.; and 24 others: The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am. J. Hum. Genet. 45: 498-506, 1989. 101. Koenig, M.; Bertelson, C. J.; Monaco, A. P.; Hoffman, E.; Feener, C. C.; Kunkel, L. M.: Complete cloning of the Duchenne muscular dystrophy cDNA and an analysis of the entire DMD locus. (Abstract) Am. J. Hum. Genet. 41: A222, 1987. 102. Koenig, M.; Hoffman, E. P.; Bertelson, C. J.; Monaco, A. P.; Feener, C.; Kunkel, L. M.: Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50: 509-517, 1987. 103. Koenig, M.; Monaco, A. P.; Kunkel, L. M.: The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell 53: 219-228, 1988. 104. Koh, J.; Bartlett, R. J.; Pericak-Vance, M. A.; Speer, M. C.; Yamaoka, L. H.; Phillips, K.; Hung, W.-Y.; Ray, P. N.; Worton, R. G.; Gilbert, J. R.; Lee, J. E.; Siddique, T.; Kandt, R. S.; Roses, A. D.: Inherited deletion at Duchenne dystrophy locus in normal male. (Letter) Lancet II: 1154-1155, 1987. 105. Kunkel, L. M.: Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature 322: 73-77, 1986. 106. Kunkel, L. M.; Monaco, A. P.; Middlesworth, W.; Ochs, H. D.; Latt, S. A.: Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion. Proc. Nat. Acad. Sci. 82: 4778-4782, 1985. 107. Laing, N. G.; Layton, M. G.; Johnsen, R. D.; Chandler, D. C.; Mears, M. E.; Goldblatt, J.; Kakulas, B. A.: Two distinct mutations in a single dystrophin gene: chance occurrence or premutation? Am. J. Med. Genet. 42: 688-692, 1992. 108. Lederfein, D.; Levy, Z.; Augier, N.; Mornet, D.; Morris, G.; Fuchs, O.; Yaffe, D.; Nudel, U.: A 71-kilodalton protein is a major product of the Duchenne muscular dystrophy gene in brain and other nonmuscle tissues. Proc. Nat. Acad. Sci. 89: 5346-5350, 1992. 109. Lederfein, D.; Yaffe, D.; Nudel, U.: A housekeeping type promoter, located in the 3-prime region of the Duchenne muscular dystrophy gene, controls the expression of Dp71, a major product of the gene. Hum. Molec. Genet. 2: 1883-1888, 1993. 110. Lee, C. C.; Pearlman, J. A.; Chamberlain, J. S.; Caskey, C. T. : Expression of recombinant dystrophin and its localization to the cell membrane. Nature 349: 334-336, 1991. 111. Lee, G.-H.; Badorff, C.; Knowlton, K. U.: Dissociation of sarcoglycans and the dystrophin carboxyl terminus from the sarcolemma in enteroviral cardiomyopathy. Circ. Res. 87: 489-495, 2000. 112. Lenk, U.; Hanke, R.; Kraft, U.; Grade, K.; Grunewald, I.; Speer, A.: Non-isotopic analysis of single strand conformation polymorphism (SSCP) in the exon 13 region of the human dystrophin gene. J. Med. Genet. 30: 951-954, 1993. 113. Lenk, U.; Hanke, R.; Speer, A.: Carrier detection in DMD families with point mutations, using PCR-SSCP and direct sequencing. Neuromusc. Disord. 4: 411-418, 1994. 114. Lenk, U.; Hanke, R.; Thiele, H.; Speer, A.: Point mutations at the carboxy terminus of the human dystrophin gene: implications for an association with mental retardation in DMD patients. Hum. Molec. Genet. 2: 1877-1881, 1993. 115. Lenk, U.; Oexle, K.; Voit, T.; Ancker, U.; Hellner, K.-A.; Speer, A.; Hubner, C.: A cysteine 3340 substitution in the dystroglycan-binding domain of dystrophin associated with Duchenne muscular dystrophy, mental retardation and absence of the ERG b-wave. Hum. Molec. Genet. 973-975, 1996. 116. Liechti-Gallati, S.; Braga, S.; Hirsiger, H.; Moser, H.: Familial deletion in Becker type muscular dystrophy within the pXJ region. Hum. Genet. 77: 267-268, 1987. 117. Lindlof, M.; Kaariainen, H.; van Ommen, G. J. B.; de la Chapelle, A.: Microdeletions in patients with X-linked muscular dystrophy: molecular-clinical correlations. Clin. Genet. 33: 131-139, 1988. 118. Lindlof, M.; Kiuru, A.; Kaariainen, H.; Kalimo, H.; Lang, H.; Pihko, H.; Rapola, J.; Somer, H.; Somer, M.; Savontaus, M.-L.; de la Chapelle, A.: Gene deletions in X-linked muscular dystrophy. Am. J. Hum. Genet. 44: 496-503, 1989. 119. Mankin, A. S.; Liebman, S. W.: Baby, don't stop! Nature Genet. 23: 8-10, 1999. 120. Mao, Y.; Cremer, M.: Detection of Duchenne muscular dystrophy carriers by dosage analysis using the DMD cDNA clone 8. Hum. Genet. 81: 193-195, 1989. 121. Matsuo, M.; Masumura, T.; Nakajima, T.; Kitoh, Y.; Takumi, T.; Nishio, H.; Koga, J.; Nakamura, H.: A very small frame-shifting deletion within exon 19 of the Duchenne muscular dystrophy gene. Biochem. Biophys. Res. Commun. 170: 963-967, 1990. 122. Matsuo, M.; Masumura, T.; Nishio, H.; Nakajima, T.; Kitoh, Y.; Takumi, T.; Koga, J.; Nakamura, H.: Exon skipping during splicing of dystrophin mRNA precursor due to an intraexon deletion in the dystrophin gene of Duchenne muscular dystrophy. J. Clin. Invest. 87: 2127-2131, 1991. 123. McArdle, A.; Edwards, R. H. T.; Jackson, M. J.: Time course of changes in plasma membrane permeability in the dystrophin-deficient mdx mouse. Muscle Nerve 17: 1378-1384, 1994. 124. McCabe, E. R. B.; Towbin, J.; Chamberlain, J.; Baumbach, L.; Witkowski, J.; van Ommen, G. J. B.; Koenig, M.; Kunkel, L. M.; Seltzer, W. K.: Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia. J. Clin. Invest. 83: 95-99, 1989. 125. Milasin, J.; Muntoni, F.; Severini, G. M.; Bartoloni, L.; Vatta, M.; Krajinovic, M.; Mateddu, A.; Angelini, C.; Camerini, F.; Falaschi, A.; Mestroni, L.; Giacca, M.; Heart Muscle Disease Study Group: A point mutation in the 5-prime splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy. Hum. Molec. Genet. 5: 73-79, 1996. 126. Minetti, C.; Bonilla, E.: Mosaic expression of dystrophin in carriers of Becker's muscular dystrophy and the X-linked syndrome of myalgia and cramps. (Letter) New Eng. J. Med. 327: 1100, 1992. 127. Moizard, M.-P.; Toutain, A.; Fournier, D.; Berret, F.; Raynaud, M.; Billard, C.; Andres, C.; Moraine, C.: Severe cognitive impairment in DMD: obvious clinical indication for Dp71 isoform point mutation screening. Europ. J. Hum. Genet. 8: 552-556, 2000. 128. Monaco, A. P.; Bertelson, C. J.; Liechti-Gallati, S.; Moser, H.; Kunkel, L. M.: An explanation for phenotypic differences between patients bearing partial deletions of DMD locus. Genomics 2: 90-95, 1988. 129. Monaco, A. P.; Kunkel, L. M.: A giant locus for the Duchenne and Becker muscular dystrophy gene. Trends Genet. 3: 33-37, 1987. 130. Monaco, A. P.; Neve, R. L.; Colletti-Feener, C.; Bertelson, C. J.; Kurnit, D. M.; Kunkel, L. M.: Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature 323: 646-650, 1986. 131. Muntoni, F.; Cau, M.; Ganau, A.; Congiu, R.; Arvedi, G.; Mateddu, A.; Marrosu, M. G.; Cianchetti, C.; Realdi, G.; Cao, A.; Melis, M. A.: Deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy. New Eng. J. Med. 329: 921-925, 1993. 132. Muntoni, F.; Melis, M. A.; Ganau, A.; Dubowitz, V.: Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy. Am. J. Hum. Genet. 56: 151-157, 1995. 133. Muntoni, F.; Wilson, L.; Marrosu, G.; Marrosu, M. G.; Cianchetti, C.; Mestroni, L.; Ganau, A.; Dubowitz, V.; Sewry, C.: A mutation in the dystrophin gene selectively affecting dystrophin expression in the heart. J. Clin. Invest. 96: 693-699, 1995. 134. Nevin, N. C.; Hughes, A. E.; Calwell, M.; Lim, J. H. K.: Duchenne muscular dystrophy in a female with a translocation involving Xp21. J. Med. Genet. 23: 171-187, 1986. 135. Nigro, V.; Politano, L.; Nigro, G.; Romano, S. C.; Molinari, A. M.; Puca, G. A.: Detection of a nonsense mutation in the dystrophin gene by multiple SSCP. Hum. Molec. Genet. 1: 517-520, 1992. 136. Nobile, C.; Marchi, J.; Nigro, V.; Roberts, R. G.; Danieli, G. A.: Exon-intron organization of the human dystrophin gene. Genomics 45: 421-424, 1997. 137. Nobile, C.; Toffolatti, L.; Rizzi, F.; Simionati, B.; Nigro, V.; Cardazzo, B.; Patarnello, T.; Valle, G.; Danieli, G. A.: Analysis of 22 deletion breakpoints in dystrophin intron 49. Hum. Genet. 110: 418-421, 2002. 138. Norman, A.; Harper, P.: A survey of manifesting carriers of Duchenne and Becker muscular dystrophy in Wales. Clin. Genet. 36: 31-37, 1989. 139. Ohno, S.: Evolution by Gene Duplication. Berlin: Springer-Verlag (pub.) 1970. 140. Ortiz-Lopez, R.; Li, H.; Su, J.; Goytia, V.; Towbin, J. A.: Evidence for a dystrophin missense mutation as a cause of X-linked dilated cardiomyopathy. Circulation 95: 2434-2440, 1997. 141. Palmucci, L.; Doriguzzi, C.; Mongini, T.; Restagno, G.; Chiado-Piat, L.; Maniscalco, M.: Unusual expression and very mild course of Xp21 muscular dystrophy (Becker type) in a 60-year-old man with 26 percent deletion of the dystrophin gene. Neurology 44: 541-543, 1994. 142. Passos-Bueno, M. R.; Bakker, E.; Kneppers, A. L. J.; Takata, R. I.; Rapaport, D.; den Dunnen, J. T.; Zatz, M.; van Ommen, G. J. B.: Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk. Am. J. Hum. Genet. 51: 1150-1155, 1992. 143. Paulson, K. E.; Deka, N.; Schmid, C. W.; Misra, R.; Schindler, C. W.; Rush, M. G.; Kadyk, L.; Leinwand, L.: A transposon-like element in human DNA. Nature 316: 359-361, 1985. 144. Pernelle, J.-J.; Chafey, P.; Chelly, J.; Wahrmann, J. P.; Kaplan, J.-C.; Tome, F.; Fardeau, M.: Nebulin seen in DMD males including one patient with a large DNA deletion encompassing the DMD gene. Hum. Genet. 78: 285, 1988. 145. Pillers, D.-A. M.; Fitzgerald, K. M.; Duncan, N. M.; Rash, S. M.; White, R. A.; Dwinnell, S. J.; Powell, B. R.; Schnur, R. E.; Ray, P. N.; Cibis, G. W.; Weleber, R. G.: Duchenne/Becker muscular dystrophy: correlation of phenotype by electroretinography with sites of dystrophin mutations. Hum. Genet. 105: 2-9, 1999. 146. Pizzuti, A.; Pieretti, M.; Fenwick, R. G.; Gibbs, R. A.; Caskey, C. T.: A transposon-like element in the deletion-prone region of the dystrophin gene. Genomics 13: 594-600, 1992. 147. Porter, J. D.; Khanna, S.; Kaminski, H. J.; Rao, J. S.; Merriam, A. P.; Richmonds, C. R.; Leahy, P.; Li, J.; Guo, W.; Andrade, F. H. : A chronic inflammatory response dominates the skeletal muscle molecular signature in dystrophin-deficient mdx mice. Hum. Molec. Genet. 11: 263-272, 2002. 148. Prior, T. W.; Papp, A. C.; Snyder, P. J.; Burghes, A. H. M.; Bartolo, C.; Sedra, M. S.; Western, L. M.; Mendell, J. R.: A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient. Nature Genet. 4: 357-360, 1993. 149. Prior, T. W.; Papp, A. C.; Snyder, P. J.; Burghes, A. H. M.; Sedra, M. S.; Western, L. M.; Bartello, C.; Mendell, J. R.: Identification of two point mutations and a one base deletion in exon 19 of the dystrophin gene by heteroduplex formation. Hum. Molec. Genet. 2: 311-313, 1993. 150. Prior, T. W.; Papp, A. C.; Snyder, P. J.; Burghes, A. H. M.; Sedra, M. S.; Western, L. M.; Bartolo, C.; Mendell, J. R.: Exon 44 nonsense mutation in two-Duchenne muscular dystrophy brothers detected by heteroduplex analysis. Hum. Mutat. 2: 192-195, 1993. 151. Prior, T. W.; Papp, A. C.; Snyder, P. J.; Sedra, M. S.; Western, L. M.; Bartolo, C.; Moxley, R. T.; Mendell, J. R.: Heteroduplex analysis of the dystrophin gene: application to point mutation and carrier detection. Am. J. Med. Genet. 50: 68-73, 1994. 152. Rafael, J. A.; Sunada, Y.; Cole, N. M.; Campbell, K. P.; Faulkner, J. A.; Chamberlain, J. S.: Prevention of dystrophic pathology in mdx mice by a truncated dystrophin isoform. Hum. Molec. Genet. 3: 1725-1733, 1994. 153. Rafael, J. A.; Townsend, E. R.; Squire, S. E.; Potter, A. C.; Chamberlain, J. S.; Davies, K. E.: Dystrophin and utrophin influence fiber type composition and post-synaptic membrane structure. Hum. Molec. Genet. 9: 1357-1367, 2000. 154. Ray, P. N.; Belfall, B.; Duff, C.; Logan, C.; Kean, V.; Thompson, M. W.; Sylvester, J. E.; Gorski, J. L.; Schmickel, R. D.; Worton, R. G.: Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy. Nature 318: 672-675, 1985. 155. Read, A. P.; Mountford, R. C.; Forrest, S. M.; Kenwrick, S. J.; Davies, K. E.; Harris, R.: Patterns of exon deletions in Duchenne and Becker muscular dystrophy. Hum. Genet. 80: 152-156, 1988. 156. Rininsland, F.; Hahn, A.; Niemann-Seyde, S.; Slomski, R.; Hanefeld, F.; Reiss, J.: Identification of a new DMD gene deletion by ectopic transcript analysis. J. Med. Genet. 29: 647-651, 1992. 157. Roberts, R. G.; Bentley, D. R.; Bobrow, M.: Infidelity in the structure of ectopic transcripts: a novel exon in lymphocyte dystrophin transcripts. Hum. Mutat. 2: 293-299, 1993. 158. Roberts, R. G.; Bobrow, M.; Bentley, D. R.: The spectrum of mild X-linked recessive muscular dystrophy. Arch. Neurol. 34: 408-416, 1992. 159. Roberts, R. G.; Bobrow, M.; Bentley, D. R.: Point mutations in the dystrophin gene. Proc. Nat. Acad. Sci. 89: 2331-2335, 1992. 160. Roberts, R. G.; Gardner, R. J.; Bobrow, M.: Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations. Hum. Mutat. 4: 1-11, 1994. 161. Roberts, R. G.; Passos-Bueno, M. R.; Bobrow, M.; Vainzof, M.; Zatz, M.: Point mutation in a Becker muscular dystrophy patient. Hum. Molec. Genet. 2: 75-77, 1992. 162. Rowland, L. P.: Biochemistry of muscle membranes in Duchenne muscular dystrophy. Muscle Nerve 3: 3-20, 1980. 163. Ryder-Cook, A. S.; Sicinski, P.; Thomas, K.; Davies, K. E.; Worton, R. G.; Barnard, E. A.; Darlison, M. G.; Barnard, P. J.: Localization of the mdx mutation within the mouse dystrophin gene. EMBO J. 7: 3017-3021, 1988. 164. Saad, F. A.; Vita, G.; Mora, M.; Morandi. L.; Vitiello, L.; Oliviero, S.; Danieli, G. A.: A novel nonsense mutation in the human dystrophin gene. Hum. Mutat. 2: 314-316, 1993. 165. Saad, F. A.; Vita, G.; Toffolatti, L.; Danieli, G. A.: A possible missense mutation detected in the dystrophin gene by double strand conformation analysis (DSCA). Neuromusc. Disord. 4: 335-341, 1994. 166. Sakamoto, M.; Yuasa, K.; Yoshimura, M.; Yokota, T.; Ikemoto, T.; Suzuki, M.; Dickson, G.; Miyagoe-Suzuki, Y.; Takeda, S.: Micro-dystrophin cDNA ameliorates dystrophic phenotypes when introduced into mdx mice as a transgene. Biochem. Biophys. Res. Commun. 293: 1265-1272, 2002. 167. Sarig, R.; Mezger-Lallemand, V.; Gitelman, I.; Davis, C.; Fuchs, O.; Yaffe, D.; Nudel, U.: Targeted inactivation of Dp71, the major non-muscle product of the DMD gene: differential activity of the Dp71 promoter during development. Hum. Molec. Genet. 8: 1-10, 1999. 168. Sarkar, G.; Sommer, S. S.: Access to a messenger RNA sequence or its protein product is not limited by tissue or species specificity. Science 244: 331-334, 1989. 169. Schwartz, L. S.; Tarleton, J.; Popovich, B.; Seltzer, W. K.; Hoffman, E. P.: Fluorescent multiplex linkage analysis and carrier detection for Duchenne/Becker muscular dystrophy. Am. J. Hum. Genet. 51: 721-729, 1992. 170. Scott, M. O.; Sylvester, J. E.; Heiman-Patterson, T.; Shi, Y.-J.; Fieles, W.; Stedman, H.; Burghes, A.; Ray, P.; Worton, R.; Fischbeck, K. H.: Duchenne muscular dystrophy gene expression in normal and diseased human muscle. Science 239: 1418-1420, 1988. 171. Sharp, N. J. H.; Kornegay, J. N.; Van Camp, S. D.; Herbstreith, M. H.; Secore, S. L.; Kettle, S.; Hung, W.-Y.; Constantinou, C. D.; Dykstra, M. J.; Roses, A. D.; Bartlett, R. J.: An error in dystrophin mRNA processing in golden retriever muscular dystrophy, an animal homologue of Duchenne muscular dystrophy. Genomics 13: 115-121, 1992. 172. Shiga, N.; Takeshima, Y.; Sakamoto, H.; Inoue, K.; Yokota, Y.; Yokoyama, M.; Matsuo, M.: Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy. J. Clin. Invest. 100: 2204-2210, 1997. 173. Sicinski, P.; Geng, Y.; Ryder-Cook, A. S.; Barnard, E. A.; Darlison, M. G.; Barnard, P. J.: The molecular basis of muscular dystrophy in the mdx mouse: a point mutation. Science 244: 1578-1580, 1989. 174. Smithies, O.; Connell, G. E.; Dixon, G. H.: Chromosomal rearrangements and the evolution of haptoglobin genes. Nature 196: 232-236, 1962. 175. Southern, E. M.: Detection of specific sequences among DNA fragments separated by gel electrophoresis. J. Molec. Biol. 98: 503-517, 1975. 176. Stratford-Perricaudet, L. D.; Makeh, I.; Perricaudet, M.; Briand, P.: Widespread long-term gene transfer to mouse skeletal muscles and heart. J. Clin. Invest. 90: 626-630, 1992. 177. Takeshima, Y.; Nishio, H.; Narita, N.; Wada, H.; Ishikawa, Y.; Ishikawa, Y.; Minami, R.; Nakamura, H.; Matsuo, M.: Amino-terminal deletion of 53% of dystrophin results in an intermediate Duchenne-Becker muscular dystrophy phenotype. Neurology 44: 1648-1651, 1994. 178. Tennyson, C. N.; Klamut, H. J.; Worton, R. G.: The human dystrophin gene requires 16 hours to be transcribed and is cotranscriptionally spliced. Nature Genet. 9: 184-190, 1995. 179. Tinsley, J. M.; Blake, D. J.; Davies, K. E.: Apo-dystrophin-3: a 2.2kb transcript from the DMD locus encoding the dystrophin glycoprotein binding site. Hum. Molec. Genet. 2: 521-524, 1993. 180. Tinsley, J. M.; Potter, A. C.; Phelps, S. R.; Fisher, R.; Trickett, J. I.; Davies, K. E.: Amelioration of the dystrophic phenotype of mdx mice using a truncated utrophin transgene. Nature 384: 349-353, 1996. 181. Todorova, A.; Danieli, G. A.: Large majority of singlenucleotide mutations along the dystrophin gene can be explained by more than one mechanism of mutagenesis. Hum. Mutat. 9: 537-547, 1997. 182. Torelli, S.; Muntoni, F.: Alternative splicing of dystrophin exon 4 in normal human muscle. Hum. Genet. 97: 521-523, 1996. 183. Towbin, J. A.; Hejtmancik, J. F.; Brink, P.; Gelb, B.; Zhu, X. M.; Chamberlain, J. S.; McCabe, E. R. B.; Swift, M.: Xlinked dilated cardiomyopathy: molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus. Circulation 87: 1854-1865, 1993. 184. Towbin, J. A.; Ortiz-Lopez, R.: X-linked dilated cardiomyopathy. (Letter) New Eng. J. Med. 330: 369-370, 1994. 185. Towbin, J. A.; Zhu, X. M.; Gelb, B.; Bies, R.; Chamberlain, J.; Maichele, A.; Ohlendieck, K.; Campbell, K.; McCabe, E. R. B.; Swift, M.: X-linked dilated cardiomyopathy (XLCM): molecular characterization. (Abstract) Am. J. Hum. Genet. 49 (suppl.): 421, 1991. 186. Tuffery, S.; Lenk, U.; Roberts, R. G.; Coubes, C.; Demaille, J.; Claustres, M.: Protein truncation test: analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation. Hum. Mutat. 6: 126-135, 1995. 187. Valentine, B. A.; Winand, N. J.; Pradhan, D.; Moise, N. S.; de Lahunta, A.; Kornegay, J. N.; Cooper, B. J.: Canine X-linked muscular dystrophy as an animal model of Duchenne muscular dystrophy: a review. Am. J. Med. Genet. 42: 352-356, 1992. 188. Verellen-Dumoulin, C.; Freund, M.; De Meyer, R.; Laterre, C.; Frederic, J.; Thompson, M. W.; Markovic, V. D.; Worton, R. G.: Expression of an X-linked muscular dystrophy in a female due to translocation involving Xp21 and non-random inactivation of the normal X chromosome. Hum. Genet. 67: 115-119, 1984. 189. Wehling, M.; Spencer, M. J.; Tidball, J. G.: A nitric oxide synthase transgene ameliorates muscular dystrophy in mdx mice. J. Cell Biol. 155: 123-131, 2001. 190. Werner, W.; Spiegler, A. W. J.: Inherited deletion of subband Xp21.13 in a male with Duchenne muscular dystrophy. J. Med. Genet. 25: 377-382, 1988. 191. Wilton, S. D.; Chandler, D. C.; Kakulas, B. A.; Laing, N. G. : Identification of a point mutation and germinal mosaicism in a Duchenne muscular dystrophy family. Hum. Mutat. 3: 133-140, 1994. 192. Wilton, S. D.; Johnsen, R. D.; Pedretti, J. R.; Laing, N. G. : Two distinct mutations in a single dystrophin gene: identification of an altered splice-site as the primary Becker muscular dystrophy mutation. Am. J. Med. Genet. 46: 563-569, 1993. 193. Winnard, A. V.; Jia-Hsu, Y.; Gibbs, R. A.; Mendell, J. R.; Burghes, A. H. M.: Identification of a 2 base pair nonsense mutation causing a cryptic splice site in a DMD patient. Hum. Molec. Genet. 1: 645-646, 1992. 194. Wood, D. S.; Zeviani, M.; Prelle, A.; Bonilla, E.; Salviati, G.; Miranda, A. F.; DiMauro, S.; Rowland, L. P.: Is nebulin the defective gene product in Duchenne muscular dystrophy? (Letter) New Eng. J. Med. 316: 107-108, 1987. 195. Worton, R. G.: Dystrophin: the long and short of it. (Editorial) J. Clin. Invest. 93: 4, 1994. 196. Worton, R. G.: Personal Communication. Toronto, Ontario, Canada 9/12/1987. 197. Xiong, D.; Lee, G.-H.; Badorff, C.; Dorner, A.; Lee, S.; Wolf, P.; Knowlton, K. U.: Dystrophin deficiency markedly increases enterovirus-induced cardiomyopathy: a genetic predisposition to viral heart disease. Nature Med. 8: 872-877, 2002. 198. Yang, T. P.; Patel, P. I.; Chinault, A. C.; Stout, J. T.; Jackson, L. G.; Hildebrand, B. M.; Caskey, C. T.: Molecular evidence for new mutation at the HPRT locus in Lesch-Nyhan patients. Nature 310: 412-414, 1984. 199. Yoshida, K.; Ikeda, S.; Nakamura, A.; Kagoshima, M.; Takeda, S.; Shoji, S.; Yanagisawa, N.: Molecular analysis of the Duchenne muscular dystrophy gene in patients with Becker muscular dystrophy presenting with dilated cardiomyopathy. Muscle Nerve 16: 1161-1166, 1993. 200. Yoshida, K.; Nakamura, A.; Yazaki, M.; Ikeda, S.; Takeda, S. : Insertional mutation by transposable element, L1, in the DMD gene results in X-linked dilated cardiomyopathy. Hum. Molec. Genet. 7: 1129-1132, 1998. 201. Zubrzycka-Gaarn, E. E.; Bulman, D. E.; Karpati, G.; Burghes, A. H. M.; Belfall, B.; Klamut, H. J.; Talbot, J.; Hodges, R. S.; Ray, P. N.; Worton, R. G.: The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle. Nature 333: 466-469, 1988.
[0011368]1956.Brinkhous, K. M.; Davis, P. D.; Graham, J. B.; Dodds, W. J.: Expression and linkage of genes for X-linked hemophilia A and B in the dog. Blood 41: 577-585, 1973.
[0011369]1957.Abinun, M.; Spickett, G.; Appleton, A. L.; Flood, T.; Cant, A. J.: Anhidrotic ectodermal dysplasia associated with specific antibody deficiency. Europ. J. Pediat. 155: 146-147, 1995.
[0011370]1958.Bayes, M.; Hartung, A. J.; Ezer, S.; Pispa, J.; Thesleff, I.; Srivastava, A. K.; Kere, J.: The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats. Hum. Molec. Genet. 7: 1661-1669, 1998.
[0011371]1959.Blaschko, A.: Die Nervenverteilung in der Haut in ihrer Beziehung zu den Erkrankungen der Haut. Wein and Leipzig: Braunmuller (pub.) 1901.
[0011372]1960.Blecher, S. R.; Kapalanga, J.; Lalonde, D.: Induction of sweat glands by epidermal growth factor in murine X-linked anhidrotic ectodermal dysplasia. Nature 345: 542-544, 1990.
[0011373]1961.Bowen, R.: Hereditary ectodermal dysplasia of the anhidrotic type. Sth. Med. J. 50: 1018-1021, 1957.
[0011374]1962.Burck, U.; Held, K. R.: Athelia in a female infant heterozygous for anhidrotic ectodermal dysplasia. Clin. Genet. 19: 117-121, 1981.
[0011375]1963.Casal, M. L.; Jezyk, P. F.; Greek, J. M.; Goldschmidt, M. H.; Patterson, D. F.: X-linked ectodermal dysplasia in the dog. J. Hered. 88: 513-516, 1997.
[0011376]1964.Chautard-Freire-Maia, E. A.; Primo-Parmo, S. L.; Pinheiro, M.; Freire-Maia, N.: Further evidence against linkage between Christ-Siemens-Touraine (CST) and Xg loci. Hum. Genet. 57: 205-206, 1981.
[0011377]1965.Chen, Y.; Molloy, S. S.; Thomas, L.; Gambee, J.; Bachinger, H. P.; Ferguson, B.; Zonana, J.; Thomas, G.; Morris, N. P.: Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia. Proc. Nat. Acad. Sci. 98: 7218-7223, 2001.
[0011378]1966.Clark, R. P.; Goff, M. R.; MacDermot, K. D.: Identification of functioning sweat pores and visualization of skin temperature patterns in X-linked hypohidrotic ectodermal dysplasia by whole body thermography. Hum. Genet. 86: 7-13, 1990.
[0011379]1967.Brinkhous, K. M.; Graham, J. B.: Hemophilia in the female dog. Science 111: 723-724, 1950.
[0011380]1968.Brocker-Vriends, A. H. J. T.; Briet, E.; Dreesen, J. C. F. M.; Bakker, B.; Reitsma, P.; Pannekoek, H.; van de Kamp, J. J. P.; Pearson, P. L.: Somatic origin of inherited haemophilia A. Hum. Genet. 85: 288-292, 1990.
[0011381]1969.Brocker-Vriends, A. H. J. T.; Rosendaal, F. R.; van Houwelingen, J. C.; Bakker, E.; van Ommen, G. J. B.; van de Kamp, J. J. P.; Briet, E.: Sex ratio of the mutation frequencies in haemophilia A: coagulation assays and RFLP analysis. J. Med. Genet. 28: 672-680, 1991.
[0011382]1970.Casarino, L.; Pecorara, M.; Mori, P. G.; Morfini, M.; Mancuso, G.; Scrivano, L.; Molinari, A. C.; Lanza, T.; Giavarella, G.; Loi, A.; Perseu, L.; Cao, A.; Pirastu, M.: Molecular basis of hemophilia A in Italians. Ric. Clin. Lab. 16: 227, 1986.
[0011383]1971.Casula, L.; Murru, S.; Pecorara, M.; Ristaldi, M. S.; Restagno, G.; Mancuso, G.; Morfini, M.; De Biasi, R.; Baudo, F.; Carbonara, A.; Mori, P. G.; Cao, A.; Pirastu, M.: Recurrent mutations and three novel rearrangements in the factor VIII gene of hemophilia A patients of Italian descent. Blood 75: 662-670, 1990.
[0011384]1972.Chan, V.; Chan, T. K.; Tong, T. M.; Todd, D.: A novel missense mutation in exon 4 of the factor VIII:C gene resulting in moderately severe hemophilia A. Blood 74: 2688-2691, 1989.
[0011385]1973.Chediak, J.; Telfer, M. C.; Jaojaroenkul, T.; Green, D.: Lower factor VIII coagulant activity in daughters of subjects with hemophilia A compared to other obligate carriers. Blood 55: 552-558, 1980.
[0011386]1974.Coleman, R.; Genet, S. A.; Harper, J. I.; Wilkie, A. O. M.: Interaction of incontinentia pigmenti and factor VIII mutations in a female with biased X inactivation, resulting in haemophilia. J. Med. Genet. 30: 497-500, 1993.
[0011387]1975.Cone, T. E., Jr.: A case of hereditary hemorrhagic tendency (hemophilia) reported in 1832 by a physician practicing in Simpsonville, Kentucky. Pediatrics 64: 291, 1979.
[0011388]1976.Cooper, H. A.; Wagner, R. H.: The defect in hemophilic and Von Willebrand's disease. Plasmas studied by a recombination technique. J. Clin. Invest. 54: 1093-1099, 1974.
[0011389]1977.Cutler, J. A.; Mitchell, M. J.; Smith, M. P.; Savidge, G. F.: The identification and classification of 41 novel mutations in the factor VIII gene (F8C). Hum. Mutat. 19: 274-278, 2002.
[0011390]1978.David, D.; Moreira, I.; Lalloz, M. R.; Rosa, H. A.; Schwaab, R.; Morais, S.; Diniz, M. J.; de Deus, G.; Campos, M.; Lavinha, J.: Analysis of the essential sequences of the factor VIII gene in twelve haemophilia A patients by single-stranded conformation polymorphism. Blood Coagul. Fibrinolysis 5: 257-264, 1994.
[0011391]1979.Denson, K. W. E.: Two forms of haemophilia? (Letter) Lancet II: 222-223, 1968.
[0011392]1980.Denson, K. W. E.; Biggs, R.; Haddon, M. E.; Borrett, R.; Cobb, K.: Two types of haemophilia (A+ and A-): a study of 48 cases. Brit. J. Haemat. 17: 163-171, 1969.
[0011393]1981.Diamond, C.; Kogan, S.; Levinson, B.; Gitschier, J.: Amino acid substitutions in conserved domains of factor VIII and related proteins: study of patients with mild and moderately severe hemophilia A. Hum. Mutat. 1: 248-257, 1992.
[0011394]1982.Din, N.; Schwartz, M.; Kruse, T.; Vestertgaard, S. R.; Ahrens, P.; Scheibel, E.; Nordfang, O.; Ezban, M.: Factor VIII gene-specific probes used to study heritage and molecular defects in hemophilia A. (Abstract) Ric. Clin. Lab. 16: 182 only, 1986.
[0011395]1983.Dombroski, B. A.; Mathias, S. L.; Nanthakumar, E. J.; Scott, A. F.; Kazazian, H. H., Jr.: Isolation of the L1 gene responsible for a retrotransposition event in man. (Abstract) Am. J. Hum. Genet. 49 (suppl.): 403 only, 1991.
[0011396]1984.Dwarki, V. J.; Belloni, P.; Nijjar, T.; Smith, J.; Couto, L.; Rabier, M.; Clift, S.; Berns, A.; Cohen, L. K.: Gene therapy for hemophilia A: production of therapeutic levels of human factor VIII in vivo in mice. Proc. Nat. Acad. Sci. 92: 1023-1027, 1995.
[0011397]1985.Economou, E. P.; Kazazian, H. H., Jr.; Antonarakis, S. E.: Detection of mutations in the factor VIII gene using single-stranded conformational polymorphism (SSCP). Genomics 13: 909-911, 1992.
[0011398]1986.Edgell, C.-J. S.; Kirkman, H. N.; Clemons, E.; Buchanan, P. D.; Miller, C. H.: Prenatal diagnosis by linkage: hemophilia A and polymorphic glucose-6-phosphate dehydrogenase. Am. J. Hum. Genet. 30: 80-84, 1978.
[0011399]1987.Erlich, H. A.; Gelfand, D. H.; Saiki, R. K.: Specific DNA amplification. Nature 331: 461-462, 1988.
[0011400]1988.Favier, R.; Lavergne, J.-M.; Costa, J.-M.; Caron, C.; Mazurier, C.; Viemont, M.; Delpech, M.; Valleix, S.: Unbalanced X-chromosome inactivation with a novel FVIII gene mutation resulting in severe hemophilia A in a female. Blood 96: 4373-4375, 2000.
[0011401]1989.Fay, P. J.; Chavin, S. I.; Schroeder, D.; Young, F. E.; Marder, V. J.: Purification and characterization of a highly purified human factor VIII consisting of a single type of polypeptide chain. Proc. Nat. Acad. Sci. 79: 7200-7204, 1982.
[0011402]1990.Feinstein, D.; Chong, M. N. Y.; Kasper, C. K.; Rapaport, S. I. : Hemophilia A: polymorphism detectable by a factor VIII antibody. Science 163: 1071-1072, 1969.
[0011403]1991.Figueiredo, M. S.; Bernardi, F.; Zago, M. A.: A novel deletion of FVIII gene associated with variable levels of FVIII inhibitor. Europ. J. Haemat. 48: 152-154, 1992.
[0011404]1992.Filippi, G.; Mannucci, P. M.; Coppola, R.; Farris, A.; Rinaldi, A.; Siniscalco, M.: Studies on hemophilia A in Sardinia bearing on the problems of multiple allelism, carrier detection, and differential mutation rate in the two sexes. Am. J. Hum. Genet. 36: 44-71, 1984.
[0011405]1993.Firshein, S. I.; Hoyer, L. W.; Lazarchick, J.; Forget, B. G.; Hobbins, J. C.; Clyne, L. P.; Pitlick, F. A.; Muir, W. A.; Merkatz, I. R.; Mahoney, M. J.: Prenatal diagnosis of classic hemophilia. New Eng. J. Med. 300: 937-941, 1979.
[0011406]1994.Freije, D.; Schlessinger, D.: A 1.6-Mb contig of yeast artificial chromosomes around the human factor VIII gene reveals three regions homologous to probes for the DXS115 locus and two for the DXYS64 locus. Am. J. Hum. Genet. 51: 66-80, 1992.
[0011407]1995.Frommel, D.; Muller, J. Y.; Prou-Wartelle, O.; Allain, J. P.: Possible linkage between the major histocompatibility complex and the immune response to factor VIII in classic haemophilia. Vox Sang. 33: 270-272, 1977.
[0011408]1996.Zankl, A.; Addor, M.-C.; Cousin, P.; Gaide, A.-C.; Gudinchet, F.; Schorderet, D. F.: Fatal outcome in a female monozygotic twin with X-linked hypohydrotic (sic) ectodermal dysplasia (XLHED) due to a de novo t(X;9) translocation with probable disruption of the EDA gene. Europ. J. Pediat. 160: 296-299, 2001.
[0011409]1997.Tanner, S.; Stagljar, I.; Georgiev, O.; Schaffner, W.; Bourquin, J.-P.: A novel SR-related protein specifically interacts with the carboxy-terminal domain (CTD) of RNA polymerase II through a conserved interaction domain. Biol. Chem. 378: 565-571, 1997.
[0011410]1998.Zhang, W.-J.; Wu, J. Y.: Sip1, a novel RS domain-containing protein essential for premRNA splicing. Molec. Cell. Biol. 18: 676-684, 1998.
[0011411]1999.Puder, M.; Barnard, G. F.; Staniunas, R. J.; Steele, G. D., Jr.; Chen, L. B.: Nucleotide and deduced amino acid sequence of human ribosomal protein L18. Biochim. Biophys. Acta 1216: 134-136, 1993.
[0011412]2000.Johnson, K. R.: Characterization of cDNA clones encoding the human homologue of Saccharomyces cerevisiae ribosomal protein L30. Gene 123: 283-285, 1993.
[0011413]2001.Tsukaguchi, H.; Tokui, T.; Mackenzie, B.; Berger, U. V.; Chen, X.-Z.; Wang, Y.; Brubaker, R. F.; Hediger, M. A.: A family of mammalian Na(+)-dependent L-ascorbic acid transporters. Nature 399: 70-75, 1999.
[0011414]2002.Li, X.; Tedder, T. F.: CHST1 and CHST2 sulfotransferases expressed by human vascular endothelial cells: cDNA cloning, expression, and chromosomal localization. Genomics 55: 345-347, 1999.
[0011415]2003.Uchimura, K.; Muramatsu, H.; Kadomatsu, K.; Fan, Q.-W.; Kurosawa, N.; Mitsuoka, C.; Kannagi, R.; Habuchi, O.; Muramatsu, T.: Molecular cloning and characterization of an Nacetylglucosamine-6-O-sulfotransferase. J. Biol. Chem. 273: 22577-22583, 1998.
[0011416]2004.Uchimura, K.; Muramatsu, H.; Kaname, T.; Ogawa, H.; Yamakawa, T.; Fan, Q.-W.; Mitsuoka, C.; Kannagi, R.; Habuchi, O.; Yokoyama, I.; Yamamura, K.; Ozaki, T.; Nakagawara, A.; Kadomatsu, K.; Muramatsu, T.: Human N-acetylglucosamine-6-O-sulfotransferase involved in the biosynthesis of 6-sulfo sialyl Lewis X: molecular cloning, chromosomal mapping, and expression in various organs and tumor cells. J. Biochem. 124: 670-678, 1998.
[0011417]2005.Ayres, J. A.; Shum, L.; Akarsu, A. N.; Dashner, R.; Takahashi, K.; Ikura, T.; Slavkin, H. C.; Nuckolls, G. H.: DACH: genomic characterization, evaluation as a candidate for postaxial polydactyly type A2, and developmental expression pattern of the mouse homologue. Genomics 77: 18-26, 2001.
[0011418]2006.Davis, R. J.; Shen, W.; Sandler, Y. I.; Amoui, M.; Purcell, P.; Maas, R.; Ou, C.-N.; Vogel, H.; Beaudet, A. L.; Mardon, G.: Dach1 mutant mice bear no gross abnormalities in eye, limb, and brain development and exhibit postnatal lethality. Molec. Cell. Biol. 21: 1484-1490, 2001.
[0011419]2007.Hammond, K. L.; Hanson, I. M.; Brown, A. G.; Lettice, L. A.; Hill, R. E.: Mammalian and Drosophila dachshund genes are related to the Ski proto-oncogene and are expressed in eye and limb. Mech. Dev. 74: 121-131, 1998.
[0011420]2008.Hammond, K. L.; Lettice, L. A.; Hill, R. E.; Lee, M.; Boyle, S.; Hanson, I. M.: Human (DACH) and mouse (Dach) homologues of Drosophila dachshund map to chromosomes 13q22 and 14E3, respectively. Genomics 55: 252-253, 1999.
[0011421]2009.Li, X.; Perissi, V.; Liu, F.; Rose, D. W.; Rosenfeld, M. G.: Tissue-specific regulation of retinal and pituitary precursor cell proliferation. Science 297: 1180-1183, 2002.
[0011422]2010.Blanco, G.; Irving, N. G.; Brown, S. D. M.; Miller, C. C. J.; McLoughlin, D. M.: Mapping of the human and murine X11-like genes (APBA2 and Apba2), the murine Fe65 gene (Apbb1), and the human Fe65-like gene (APBB2): genes encoding phosphotyrosine-binding domain proteins that interact with the Alzheimer's disease amyloid precursor protein. Mammalian Genome 9: 473-475, 1998.
[0011423]2011.Butz, S.; Okamoto, M.; Sudhof, T. C.: A tripartite protein complex with the potential to couple synaptic vesicle exocytosis to cell adhesion in brain. Cell 94: 773-782, 1998.
[0011424]2012.Chen, W.-J.; Goldstein, J. L.; Brown, M. S.: NPXY, a sequence often found in cytoplasmic tails, is required for coated pit-mediated internalization of the low density lipoprotein receptor. J. Biol. Chem. 265: 3116-3123, 1990.
[0011425]2013.Duclos, F.; Boschert, U.; Sirugo, G.; Mandel, J.-L.; Hen, R.; Koenig, M.: Gene in the region of the Friedreich ataxia locus encodes a putative transmembrane protein expressed in the nervous system. Proc. Nat. Acad. Sci. 90: 109-113, 1993.
[0011426]2014.Duclos, F.; Koenig, M.: Comparison of primary structure of a neuron-specific protein, X11, between human and mouse. Mammalian Genome 6: 57-58, 1995.
[0011427]2015.Okamoto, M.; Sudhof, T. C.: Mints, Munc18-interacting proteins in synaptic vesicle exocytosis. J. Biol. Chem. 272: 31459-31464, 1997.
[0011428]2016.van der Geer, P.; Pawson, T.: The PTB domain: a new protein module implicated in signal transduction. Trends Biochem. Sci. 20: 277-280, 1995.
[0011429]2017.Loh, N. Y.; Ambrose, H. J.; Guay-Woodford, L. M.; DasGupta, S.; Nawrotzki, R. A.; Blake, D. J.; Davies, K. E.: Genomic organization and refined mapping of the mouse beta-dystrobrevin gene. Mammalian Genome 9: 857-862, 1998.
[0011430]2018.Rodius, F.; Duclos, F.; Wrogemann, K.; Le Paslier, D.; Ougen, P.; Billault, A.; Belal, S.; Musenger, C.; Brice, A.; Durr, A.; Mignard, C.; Sirugo, G.; Weissenbach, J.; Cohen, D.; Hentati, F.; Ben Hamida, M.; Mandel, J.-L.; Koenig, M.: Recombinations in individuals homozygous by descent localize the Friedreich ataxia locus in a cloned 450-kb interval. Am. J. Hum. Genet. 54: 1050-1059, 1994.
[0011431]2019.Peters, M. F.; O'Brien, K. F.; Sadoulet-Puccio, H. M.; Kunkel, L. M.; Adams, M. E.; Froehner, S. C.: Beta-dystrobrevin, a new member of the dystrophin family: identification, cloning, and protein associations. J. Biol. Chem. 272: 50:-31561-31569, 1997.
[0011432]2020.Morris, M. E.; Viswanathan, N.; Kuhlman, S.; Davis, F. C.; Weitz, C. J.: A screen for genes induced in the suprachiasmatic nucleus by light. Science 279: 1544-1547, 1998.
[0011433]2021.Patwardhan, S.; Gashler, A.; Siegel, M. G.; Chang, L. C.; Joseph, L. J.; Shows, T. B.; Le Beau, M. M.; Sukhatme, V. P.: EGR3, a novel member of the Egr family of genes encoding immediateearly transcription factors. Oncogene 6: 917-928, 1991.
[0011434]2022.Tourtellotte, W. G.; Milbrandt, J.: Sensory ataxia and muscle spindle agenesis in mice lacking the transcription factor Egr3. Nature Genet. 20: 87-91, 1998.
[0011435]2023.Anand, R.; Ogilvie, D. J.; Butler, R.; Riley, J. H.; Finniear, R. S.; Powell, S. J.; Smith, J. C.; Markham, A. F.: A yeast artificial chromosome contig encompassing the cystic fibrosis locus. Genomics 9: 124-130, 1991.
[0011436]2024.Antinolo, G.; Borrego, S.; Gili, M.; Dapena, J.; Alfageme, I.; Reina, F.: Genotypephenotype relationship in 12 patients carrying cystic fibrosis mutation R334W. J. Med. Genet. 34: 89-91, 1997.
[0011437]2025.Audrezet, M. P.; Mercier, B.; Guillermit, H.; Quere, I.; Verlingue, C.; Rault, G.; Ferec, C.: Identification of 12 novel mutations in the CFTR gene. Hum. Molec. Genet. 2: 51-54, 1993.
[0011438]2026.Dorval, I.; Odent, S.; Jezequel, P.; Journel, H.; Chauvel, B.; Dabadie, A.; Roussey, M.; Le Gall, J. Y.; Le Marec, B.; David, V.; Blayau, M.: Analysis of 160 CF chromosomes: detection of a novel mutation in exon 20. Hum. Genet. 91: 254-256, 1993.
[0011439]2027.Dork, T.; Macek, M., Jr.; Mekus, F.; Tummler, B.; Tzountzouris, J.; Casals, T.; Krebsova, A.; Koudova, M.; Sakmaryova, I.; Macek, M., Sr.; Vavrova, V.; Zemkova, D.; and 64 others: Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe. Hum. Genet. 106: 259-268, 2000.
[0011440]2028.Ellsworth, R. E.; Jamison, D. C.; Touchman, J. W.; Chissoe, S. L.; Maduro, V. V. B.; Bouffard, G. G.; Dietrich, N. L.; Beckstrom-Sternberg, S. M.; Iyer, L. M.; Weintraub, L. A.; Cotton, M.; Courtney, L.; and 18 others: Comparative genomic sequence analysis of the human and mouse cystic fibrosis transmembrane conductance regulator genes. Proc. Nat. Acad. Sci. 97: 1172-1177, 2000.
[0011441]2029.Ferrie, R. M.; Schwarz, M. J.; Robertson, N. H.; Vaudin, S.; Super, M.; Malone, G.; Little, S.: Development, multiplexing, and application of ARMS tests for common mutations in the CFTR gene. Am. J. Hum. Genet. 51: 251-262, 1992.
[0011442]2030.Fonknechten, N.; Chelly, J.; Lepercq, J.; Kahn, A.; Kaplan, J.-C.; Kitzis, A.; Chomel, J.-C.: CFTR illegitimate transcription in lymphoid cells: quantification and applications to the investigation of pathological transcripts. Hum. Genet. 88: 508-512, 1992.
[0011443]2031.French, P. J.; van Doorninck, J. H.; Peters, R. H. P. C.; Verbeek, E.; Ameen, N. A.; Marino, C. R.; de Jonge, H. R.; Bijman, J.; Scholte, B. J.: A delta-F508 mutation in mouse cystic fibrosis transmembrane conductance regulator results in a temperature-sensitive processing defect in vivo. J. Clin. Invest. 98: 1304-1312, 1996.
[0011444]2032.Gasparini, P.; Borgo, G.; Mastella, G.; Bonizzato, A.; Dognini, M.; Pignatti, P. F.: Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease. J. Med. Genet. 29: 558-562, 1992.
[0011445]2033.Gasparini, P.; Marigo, C.; Bisceglia, G.; Nicolis, E.; Zelante, L.; Bombieri, C.; Borgo, G.; Pignatti, P. F.; Cabrini, G.: Screening of 62 mutations in the cohort of cystic fibrosis patients from north eastern Italy: their incidence and clinical features of defined genotypes. Hum. Mutat. 2: 389-394, 1993.
[0011446]2034.Gasparini, P.; Nunes, V.; Savoia, A.; Dognini, M.; Morral, N.; Gaona, A.; Bonizzato, A.; Chillon, M.; Sangiuolo, F.; Novelli, G.; Dallapiccola, B.; Pignatti, P. F.; Estivill, X.: The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences. Genomics 10: 193-200, 1991.
[0011447]2035.Gervais, R.; Dumur, V.; Rigot, J.-M.; Lafitte, J.-J.; Roussel, P.; Claustres, M.; Demaille, J.: High frequency of the R117H cystic fibrosis mutation in patients with congenital absence of the vas deferens. (Letter) New Eng. J. Med. 328: 328-329, 1993.
[0011448]2036.Ghanem, N.; Costes, B.; Girodon, E.; Martin, J.; Fanen, P.; Goossens, M.: Identification of eight mutations and three sequence variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics 21: 434-436, 1994.
[0011449]2037.Gille, C.; Grade, K.; Coutelle, C.: A pooling strategy for heterozygote screening of the delta-F508 cystic fibrosis mutation. Hum. Genet. 86: 289-291, 1991.
[0011450]2038.Girodon, E.; Cazeneuve, C.; Lebargy, F.; Chinet, T.; Costes, B.; Ghanem, N.; Martin, J.; Lemay, S.; Scheid, P.; Housset, B.; Bignon, J.; Goossens, M.: CFTR gene mutations in adults with disseminated bronchiectasis. Europ. J. Hum. Genet. 5: 149-155, 1997.
[0011451]2039.Gomez Lira, M.; Benetazzo, M. G.; Marzari, M. G.; Bombieri, C.; Belpinati, F.; Castellani, C.; Cavallini, G. C.; Mastella, G.; Pignatti, P. F.: High frequency of cystic fibrosis transmembrane regulator mutation L997F in patients with recurrent idiopathic pancreatitis and in newborns with hypertrypsinemia. (Letter) Am. J. Hum. Genet. 66: 2013-2014, 2000.
[0011452]2040.Graham, C. A.; Goon, P. K.-C.; Hill, A. J. M.; Nevin, N. C.: Identification of a frameshift mutation (557 del T) in exon 4 of the CFTR gene. Genomics 12: 854-855, 1992.
[0011453]2041.Granell, R.; Solera, J.; Carrasco, S.; Molano, J.: Identification of a nonframeshift 84-bp deletion in exon 13 of the cystic fibrosis gene. Am. J. Hum. Genet. 50: 1022-1026, 1992.
[0011454]2042.Grebe, T. A.; Doane, W. W.; Richter, S. F.; Clericuzio, C.; Norman, R. A.; Seltzer, W. K.; Rhodes, S. N.; Goldberg, B. E.; Hernried, L. S.; McClure, M.; Kaplan, G.: Mutation analysis of the cystic fibrosis transmembrane regulator gene in Native American populations of the Southwest. Am. J. Hum. Genet. 51: 736-740, 1992.
[0011455]2043.Grebe, T. A.; Seltzer, W. K.; DeMarchi, J.; Silva, D. K.; Doane, W. W.; Gozal, D.; Richter, S. F.; Bowman, C. M.; Norman, R. A.; Rhodes, S. N.; Hernried, L. S.; Murphy, S.; Harwood, I. R.; Accurso, F. J.; Jain, K. D.: Genetic analysis of Hispanic individuals with cystic fibrosis. Am. J. Hum. Genet. 54: 443-446, 1994.
[0011456]2044.Cavailles, V.; Dauvois, S.; Horset, L. F.; Lopez, G.; Hoare, S.; Kushner, P. J.; Parker, M. G.: Nuclear factor RIP140 modulates transcriptional activation by the estrogen receptor. EMBO J. 14: 3741-3751, 1995.
[0011457]2045.Katsanis, N.; Ives, J. H.; Groet, J.; Nizetic, D.; Fisher, E. M. C.: Localisation of receptor interacting protein 140 (RIP140) within 100 kb of D21S13 on 21q11, a gene-poor region of the human genome. Hum. Genet. 102: 221-223, 1998.
[0011458]2046.Brown, J. L.; Stowers, L.; Baer, M.; Trejo, J.; Coughlin, S.; Chant, J.: Human Ste20 homologue hPAK1 links GTPases to the JNK MAP kinase pathway. Curr. Biol. 6: 598-605, 1996.
[0011459]2047.Knaus, U. G.; Morris, S.; Dong, H.-J.; Chernoff, J.; Bokoch, G. M.: Regulation of human leukocyte p21-activated kinases through G protein-coupled receptors. Science 269: 221-223, 1995.
[0011460]2048.Lei, M.; Lu, W.; Meng, W.; Parrini, M.-C.; Eck, M. J.; Mayer, B. J.; Harrison, S. C.: Structure of PAK1 in an autoinhibited conformation reveals a multistage activation switch. Cell 102: 387-397, 2000.
[0011461]2049.Parrini, M. C.; Lei, M.; Harrison, S. C.; Mayer, B. J.: Pak1 kinase homodimers are autoinhibited in trans and dissociated upon activation by Cdc42 and Rac1. Molec. Cell 9: 73-83, 2002.
[0011462]2050.Sanders, L. C.; Matsumura, F.; Bokoch, G. M.; de Lanerolle, P. : Inhibition of myosin light chain kinase by p21-activated kinase. Science 283: 2083-2085, 1999.
[0011463]2051.Fischer, U.; Liu, Q.; Dreyfuss, G.: The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis. Cell 90: 1023-1029, 1997.
[0011464]2052.Hannus, S.; Buhler, D.; Romano, M.; Seraphin, B.; Fischer, U.: The Schizosaccharomyces pombe protein Yab8p and a novel factor, Yip1p, share structural and functional similarity with the spinal muscular atrophy-associated proteins SMN and SIP1. Hum. Molec. Genet. 9: 663-674, 2000.
[0011465]2053.Helmken, C.; Wetter, A.; Rudnik-Schoneborn, S.; Liehr, T.; Zerres, K.; Wirth, B.: An essential SMN interacting protein (SIP1) is not involved in the phenotypic variability of spinal muscular atrophy (SMA). Europ. J. Hum. Genet. 8: 493-499, 2000.
[0011466]2054.Jablonka, S.; Bandilla, M.; Wiese, S.; Buhler, D.; Wirth, B.; Sendtner, M.; Fischer, U.: Co-regulation of survival of motor neuron (SMN) protein and its interactor SIP1 during development and in spinal muscular atrophy. Hum. Molec. Genet. 10: 497-505, 2001.
[0011467]2055.Young, P. J.; Man, N.; Lorson, C. L.; Le, T. T.; Androphy, E. J.; Burghes, A. H. M.; Morris, G. E.: The exon 2b region of the spinal muscular atrophy protein, SMN, is involved in selfassociation and SIP1 binding. Hum. Molec. Genet. 9: 2869-2877, 2000.
[0011468]2056.Arany, Z.; Sellers, W. R.; Livingston, D. M.; Eckner, R.: E1A-associated p300 and CREB-associated CBP belong to a conserved family of coactivators. (Letter) Cell 77: 799-800, 1994.
[0011469]2057.Gayther, S. A.; Batley, S. J.; Linger, L.; Bannister, A.; Thorpe, K.; Chin, S.-F.; Daigo, Y.; Russell, P.; Wilson, A.; Sowter, H. M.; Delhanty, J. D. A.; Ponder, B. A. J.; Kouzarides, T.; Caldas, C.: Mutations truncating the EP300 acetylase in human cancers. Nature Genet. 24: 300-303, 2000.
[0011470]2058.Ida, K.; Kitabayashi, I.; Taki, T.; Taniwaki, M.; Noro, K.; Yamamoto, M.; Ohki, M.; Hayashi, Y.: Adenoviral E1A-associated protein p300 is involved in acute myeloid leukemia with t(11;22)(q23;q13). Blood 90: 4699-4704, 1997.
[0011471]2059.Muraoka, M.; Konishi, M.; Kikuchi-Yanoshita, R.; Tanaka, K.; Shitara, N.; Chong, J.-M.; Iwama, T.; Miyaki, M.: p300 gene alterations in colorectal and gastric carcinomas. Oncogene 12: 1565-1569, 1996.
[0011472]2060.Yao, T. P.; Oh, S. P.; Fuchs, M.; Zhou, N.-D.; Ch'ng, L.-E.; Newsome, D.; Bronson, R. T.; Li, E.; Livingston, D. M.; Eckner, R.: Gene dosage-dependent embryonic development and proliferation defects in mice lacking the transcriptional integrator p300. Cell 93: 361-372, 1998.
[0011473]2061.Parant, J.; Chavez-Reyes, A.; Little, N. A.; Yan, W.; Reinke, V.; Jochemsen, A. G.; Lozano, G.: Rescue of embryonic lethality in Mdm4-null mice by loss of Trp53 suggests a nonoverlapping pathway with MDM2 to regulate p53. Nature Genet. 29: 92-95, 2001.
[0011474]2062.Shvarts, A.; Bazuine, M.; Dekker, P.; Ramos, Y. F. M.; Steegenga, W. T.; Merckx, G.; van Ham, R. C. A.; van der Houven van Oordt, W.; van der Eb, A. J.; Jochemsen, A. G.: Isolation and identification of the human homolog of a new p53-binding protein, Mdmx. Genomics 43: 34-42, 1997.
[0011475]2063.Hosaka, M.; Sudhof, T. C.: Synapsin III, a novel synapsin with an unusual regulation by Ca(2)+. J. Biol. Chem. 273: 13371-13374, 1998.
[0011476]2064.Kao, H.-T.; Porton, B.; Czernik, A. J.; Feng, J.; Yiu, G.; Haring, M.; Benfenati, F.; Greengard, P.: A third member of the synapsin gene family. Proc. Nat. Acad. Sci. 95: 4667-4672, 1998.
[0011477]2065.Schizophrenia Collaborative Linkage Group (Chromosome 22): A combined analysis of D22S278 marker alleles in affected sib-pairs: support for a susceptibility locus for schizophrenia at chromosome 22q12. Am. J. Med. Genet. 67: 40-45, 1996.
[0011478]2066.Tsai, M.-T.; Hung, C.-C.; Tsai, C.-Y.; Liu, M.-Y.; Su, Y.-C.; Chen, Y.-H.; Hsaio, K.-J.; Chen, C.-H.: Mutation analysis of synapsin III gene in schizophrenia. Am. J. Med. Genet. (Neuropsychiat. Genet.) 114: 79-83, 2002.
[0011479]2067.Kull, F. J.; Sablin, E. P.; Lau, R.; Fletterick, R. J.; Vale, R. D.: Crystal structure of the kinesin motor domain reveals a structural similarity to myosin. Nature 380: 550-555, 1996.
[0011480]2068.Navone, F.; Niclas, J.; Hom-Booher, N.; Sparks, L.; Bernstein, H. D.; McCaffrey, G.; Vale, R. D.: Cloning and expression of a human kinesin heavy chain gene: interaction of the COOHterminal domain with cytoplasmic microtubules in transfected CV-1 cells. J. Cell Biol. 117: 1263-1275, 1992.
[0011481]2069.Niclas, J.; Navone, F.; Hom-Booher, N.; Vale, R. D.: Cloning and localization of a conventional kinesin motor expressed exclusively in neurons. Neuron 12: 1059-1072, 1994.
[0011482]2070.Tanaka, Y.; Kanai, Y.; Okada, Y.; Nonaka, S.; Takeda, S.; Harada, A.; Hirokawa, N.: Targeted disruption of mouse conventional kinesin heavy chain, kif5B, results in abnormal perinuclear clustering of mitochondria. Cell 93: 1147-1158, 1998.
[0011483]2071.Wang, H.; Huang, Z.-Q.; Xia, L.; Feng, Q.; Erdjument-Bromage, H.; Strahl, B. D.; Briggs, S. D.; Allis, C. D.; Wong, J.; Tempst, P.; Zhang, Y.: Methylation of histone H4 at arginine 3 facilitating transcriptional activation by nuclear hormone receptor. Science 293: 853-857, 2001.
[0011484]2072.Albala, J. S.; Thelen, M. P.; Prange, C.; Fan, W.; Christensen, M.; Thompson, L. H.; Lennon, G. G.: Identification of a novel human RAD51 homolog, RAD51B. Genomics 46: 476-479, 1997.
[0011485]2073.Cartwright, R.; Dunn, A. M.; Simpson, P. J.; Tambini, C. E.; Thacker, J.: Isolation of novel human and mouse genes of the recA/RAD51 recombination-repair gene family. Nucleic Acids Res. 26: 1653-1659, 1998.
[0011486]2074.Rice, M. C.; Smith, S. T.; Bullrich, F.; Havre, P.; Kmiec, E. B. : Isolation of human and mouse genes based on homology to REC2, a recombinational repair gene from the fungus Ustilago maydis. Proc. Nat. Acad. Sci. 94: 7417-7422, 1997.
[0011487]2075.Abramovich, C.; Yakobson, B.; Chebath, J.; Revel, M.: A protein-arginine methyltransferase binds to the intracytoplasmic domain of the IFNAR1 chain in the type I interferon receptor. EMBO J. 16: 260-266, 1997.
[0011488]2076.Lin, W.-J.; Gary, J. D.; Yang, M. C.; Clarke, S.; Herschman, H. R.: The mammalian immediate-early TIS21 protein and the leukemia-associated BTG1 protein interact with a protein-arginine N-methyltransferase. J. Biol. Chem. 271: 15034-15044, 1996.
[0011489]2077.Mowen, K. A.; Tang, J.; Zhu, W.; Schurter, B. T.; Shuai, K.; Herschman, H. R.; David, M.: Arginine methylation of STAT1 modulates IFN-alpha/beta-induce d transcription. Cell 104: 731-741, 2001.
[0011490]2078.Nikawa, J.; Nakano, H.; Ohi, N.: Structural and functional conservation of human and yeast HCP1 genes which can suppress the growth defect of the Saccharomyces cerevisiae ire15 mutant. Gene 171: 107-111, 1996.
[0011491]2079.Pawlak, M. R.; Scherer, C. A.; Chen, J.; Roshon, M. J.; Ruley, H. E.: Arginine Nmethyltransferase 1 is required for early postimplantation mouse development, but cells deficient in the enzyme are viable. Molec. Cell. Biol. 20: 4859-4869, 2000.
[0011492]2080.Scorilas, A.; Black, M. H.; Talieri, M.; Diamandis, E. P.: Genomic organization, physical mapping, and expression analysis of the human protein arginine methyltransferase 1 gene. Biochem. Biophys. Res. Commun. 278: 349-359, 2000.
[0011493]2081.Baxendale, S.; MacDonald, M. E.; Mott, R.; Francis, F.; Lin, C.; Kirby, S. F.; James, M.; Zehetner, G.; Hummerich, H.; Valdes, J.; Collins, F. S.; Deaven, L. J.; Gusella, J. F.; Lehrach, H.; Bates, G. P.: A cosmid contig and high resolution restriction map of the 2 megabase region containing the Huntington's disease gene. Nature Genet. 4: 181-186, 1993.
[0011494]2082.Richelda, R.; Ronchetti, D.; Baldini, L.; Cro, L.; Viggiano, L.; Marzella, R.; Rocchi, M.; Otsuki, T.; Lombardi, L.; Maiolo, A. T.; Neri, A.: A novel chromosomal translocation t(4;14)(p16.3;q32) in multiple myeloma involves the fibroblast growth-factor receptor 3 gene. Blood 90: 4062-4070, 1997.
[0011495]2083.Wright, T. J.; Ricke, D. O.; Denison, K.; Abmayr, S.; Cotter, P. D.; Hirschhorn, K.; Keinanen, M.; McDonald-McGinn, D.; Somer, M.; Spinner, N.; Yang-Feng, T.; Zackai, E.; Altherr, M. R.: A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region. Hum. Molec. Genet. 6: 317-324, 1997.
[0011496]2084.Chen, H.; Rossier, C.; Lalioti, M. D.; Lynn, A.; Chakravarti, A.; Perrin, G.; Antonarakis, S. E.: Cloning of the cDNA for a human homologue of the Drosophila white gene and mapping to chromosome 21q22.3. Am. J. Hum. Genet. 59: 66-75, 1996.
[0011497]2085.Croop, J. M.; Tiller, G. E.; Fletcher, J. A.; Lux, M. L.; Raab, E.; Goldenson, D.; Son, D.; Arciniegas, S.; Wu, R. L.: Isolation and characterization of a mammalian homolog of the Drosophila white gene. Gene 185: 77-85, 1997.
[0011498]2086.Klucken, J.; Buchler, C.; Orso, E.; Kaminski, W. E.; Porsch-Ozcurumez, M.; Liebisch, G.; Kapinsky, M.; Diederich, W.; Drobnik, W.; Dean, M.; Allikmets, R.; Schmitz, G.: ABCG1 (ABC8), the human homolog of the Drosophila white gene, is a regulator of macrophage cholesterol and phospholipid transport. Proc. Nat. Acad. Sci. 97: 817-822, 2000.
[0011499]2087.Langmann, T.; Porsch-Ozcurumez, M.; Unkelbach, U.; Klucken, J.; Schmitz, G.: Genomic organization and characterization of the promoter of the human ATP-binding cassette transporter-G1 (ABCG1) gene. Biochim. Biophys. Acta 1494: 175-180, 2000.
[0011500]2088.Lorkowski, S.; Rust, S.; Engel, T.; Jung, E.; Tegelkamp, K.; Galinski, E. A.; Assmann, G.; Cullen, P.: Genomic sequence and structure of the human ABCG1 (ABC8) gene. Biochem. Biophys. Res. Commun. 280: 121-131, 2001.
[0011501]2089.Savary, S.; Denizot, F.; Luciani, M.-F.; Mattei, M.-G.; Chimini, G.: Molecular cloning of a mammalian ABC transporter homologous to Drosophila white gene. Mammalian Genome 7: 673-676, 1996.
[0011502]2090.Borden, L. A.; Smith, K. E.; Gustafson, E. L.; Branchek, T. A.; Weinshank, R. L.: Cloning and expression of a betaine/GABA transporter from human brain. J. Neurochem. 64: 977-984, 1995.
[0011503]2091.Rasola, A.; Galietta, L. J. V.; Barone, V.; Romeo, G.; Bagnasco, S.: Molecular cloning and functional characterization of a GABA/betaine transporter from human kidney. FEBS Lett. 373: 229-233, 1995.
[0011504]2092.Yamauchi, A.; Uchida, S.; Kwon, H. M.; Preston, A. S.; Robey, R. B.; Garcia-Perez, A.; Burg, M. B.; Handler, J. S.: Cloning of a Na(+) and Cl(-)-dependent betaine transporter that is regulated by hypertonicity. J. Biol. Chem. 267: 649-652, 1992.
[0011505]2093.Schwienbacher, C.; Sabbioni, S.; Campi, M.; Veronese, A.; Bernardi, G.; Menegatti, A.; Hatada, I.; Mukai, T.; Ohashi, H.; Barbanti-Brodano, G; Croce, C. M.; Negrini, M.: Transcriptional map of 170-kb region at chromosome 11p15.5: identification and mutational analysis of the BWR1A gene reveals the presence of mutations in tumor samples. Proc. Nat. Acad. Sci. 95: 3873-3878, 1998.
[0011506]2094.Hirono, Y.; Fushida, S.; Yonemura, Y.; Yamamoto, H.; Watanabe, H.; Raz, A.: Expression of autocrine motility factor receptor correlates with disease progression in human gastric cancer. Brit. J. Cancer 74: 2003-2007, 1996.
[0011507]2095.Huang, B.; Xie, Y.; Raz, A.: Identification of an upstream region that controls the transcription of the human autocrine motility factor receptor. Biochem. Biophys. Res. Commun. 212: 727-742, 1995.
[0011508]2096.Silletti, S.; Yao, J.; Sanford, J.; Mohammed, A. N.; Otto, T.; Wolman, S. R.; Raz, A.: Autocrine motility factor receptor in human bladder carcinoma: gene expression, loss of cell-contact regulation and chromosomal mapping. Int. J. Oncol. 3: 801-807, 1993.
[0011509]2097.Watanabe, H.; Carmi, P.; Hogan, V.; Raz, T.; Silletti, S.; Nabi, I. R.; Raz, A.: Purification of human tumor cell autocrine motility factor and molecular cloning of its receptor. J. Biol. Chem. 266: 13442-13448, 1991.
[0011510]2098.Amlal, H.; Burnham, C. E.; Soleimani, M.: Characterization of Na(+)/HCO(3-) cotransporter isoform NBC-3. Am. J. Physiol. 276: F903-F913, 1999.
[0011511]2099.Burnham, C. E.; Wang, Z.; Soleimani, M.: Personal Communication. Cincinnati, Oh. 6/1/2000.
[0011512]2100.Choi, I.; Aalkjaer, C.; Boulpaep, E. L.; Boron, W. F.: An electroneutral sodium/bicarbonate cotransporter NBCn1 and associated sodium channel. Nature 405: 571-575, 2000.
[0011513]2101.Ishibashi, K.; Sasaki, S.; Marumo, F.: Molecular cloning of a new sodium bicarbonate cotransporter cDNA from human retina. Biochem. Biophys. Res. Commun. 246: 535-538, 1998.
[0011514]2102.Pushkin, A.; Abuladze, N.; Lee, I.; Newman, D.; Hwang, J.; Kurtz, I.: Mapping of the human NBC3 (SLC4A7) gene to chromosome 3p22. Genomics 57: 321-322, 1999. Note: Correction: Genomics 58: 216 and 321-322, 1999.
[0011515]2103.Pushkin, A.; Abuladze, N.; Lee, I.; Newman, D.; Hwang, J.; Kurtz, I.: Cloning, tissue distribution, genomic organization, and functional characterization of NBC3, a new member of the sodium bicarbonate cotransporter family. J. Biol. Chem. 274: 16569-16575, 1999.
[0011516]2104.Brown, M. S.; Goldstein, J. L.: The SREBP pathway: regulation of cholesterol metabolism by proteolysis of a membrane-bound transcription factor. Cell 89: 331-340, 1997.
[0011517]2105.Duncan, E. A.; Brown, M. S.; Goldstein, J. L.; Sakai, J.: Cleavage site for sterolregulated protease localized to a leu-ser bond in the lumenal loop of sterol regulatory element-binding protein-2. J. Biol. Chem. 272: 12778-12785, 1997.
[0011518]2106.Nagase, T.; Miyajima, N.; Tanaka, A.; Sazuka, T.; Seki, N.; Sato, S.; Tabata, S.; Ishikawa, K.; Kawarabayasi, Y.; Kotani, H.; Nomura, N.: Prediction of the coding sequences of unidentified human genes. III. The coding sequences of 40 new genes (KIAA0081-KIAA0120) deduced by analysis of cDNA clones from human cell line KG-1. DNA Res. 2: 37-43, 1995.
[0011519]2107.Nakajima, T.; Iwaki, K.; Kodama, T.; Inazawa, J.; Emi, M.: Genomic structure and chromosomal mapping of the human site-1 protease (S1P) gene. J. Hum. Genet. 45: 212-217, 2000.
[0011520]2108.Sakai, J.; Duncan, E. A.; Rawson, R. B.; Hua, X.; Brown, M. S.; Goldstein, J. L.: Sterolregulated release of SREBP-2 from cell membranes requires two sequential cleavages, one within a transmembrane segment. Cell 85: 1037-1046, 1996.
[0011521]2109.Sakai, J.; Rawson, R. B.; Espenshade, P. J.; Cheng, D.; Seegmiller, A. C.; Goldstein, J. L.; Brown, M. S.: Molecular identification of the sterol-regulated luminal protease that cleaves SREBPs and controls lipid composition of animal cells. Molec. Cell 2: 505-514, 1998.
[0011522]2110.Watt, S. M.; Buhring, H.-J.; Rappold, I.; Chan, J. Y.-H.; Lee-Prudhoe, J.; Jones, T.; Zannettino, A. C. W.; Simmons, P. J.; Doyonnas, R.; Sheer, D.; Butler, L. H.: CD164, a novel sialomucin on CD34+ and erythroid subsets, is located on human chromosome 6q21. Blood 92: 849-866, 1998.
[0011523]2111.Zannettino, A. C. W.; Buhring, H.-J.; Niutta, S.; Watt, S. M.; Benton, M. A.; Simmons, P. J.: The sialomucin CD164 (MGC-24v) is an adhesive glycoprotein expressed by human hematopoietic progenitors and bone marrow stromal cells that serves as a potent negative regulator of hematopoiesis. Blood 92: 2613-2628, 1998.
[0011524]2112.Yagasaki, F.; Jinnai, I.; Yoshida, S.; Yokoyama, Y.; Matsuda,16. Yagasaki, F.; Jinnai, I.; Yoshida, S.; Yokoyama, Y.; Matsuda, A.; Kusumoto, S.; Kobayashi, H.; Terasaki, H.; Ohyashiki, K.; Asou, N.; Murohashi, I.; Bessho, M.; Hirashima, K.: Fusion of TEL/ETV6 to a novel ACS2 in myelodysplastic syndrome and acute myelogenous leukemia with t(5;12)(q31;p13). Genes Chromosomes Cancer 26: 192-202, 1999.
[0011525]2113.Abts, H. F.; Breuhahn, K.; Michel, G.; Kohrer, K.; Esser, P.; Ruzicka, T.: Analysis of UVB modulated gene expression in human keratinocytes by mRNA differential display polymerase chain reaction. Photochem. Photobiol. 66: 363-367, 1997.
[0011526]2114.Abts, H. F.; Welss, T.; Mirmohammadsadegh, A.; Kohrer, K.; Michel, G.; Ruzicka, T.: Cloning and characterization of hurpin (protease inhibitor 13): a new skin-specific, UV-repressible serine proteinase inhibitor of the ovalbumin serpin family. J. Molec. Biol. 293: 29-39, 1999.
[0011527]2115.Nakashima, T.; Pak, S. C.; Silverman, G. A.; Spring, P. M.; Frederick, M. J.; Clayman, G. L.: Genomic cloning, mapping, structure and promoter analysis of HEADPIN, a serpin which is downregulated in head and neck cancer cells. Biochim. Biophys. Acta 1492: 441-446, 2000.
[0011528]2116.Spring, P.; Nakashima, T.; Frederick, M.; Henderson, Y.; Clayman, G.: Identification and cDNA cloning of headpin, a novel differentially expressed serpin that maps to chromosome 18q. Biochem. Biophys. Res. Commun. 264: 299-304, 1999.
[0011529]2117.Alimova-Kost, M. V.; Imreh, S.; Buchman, V. L.; Ninkina, N. N. : Assignment of phosphotriesterase-related gene (PTER) to human chromosome band 10p12 by in situ hybridization. Cytogenet. Cell Genet. 83: 16-17, 1998.
[0011530]2118.Davies, J. A.; Buchman, V. L.; Krylova, O.; Ninkina, N. N.: Molecular cloning and expression pattern of rpr-1, a resiniferatoxin-binding, phosphotriesterase-related protein, expressed in rat kidney tubules. FEBS Lett. 410: 378-382, 1997.
[0011531]2119.Jones, P. G.; Lombardi, S. J.; Cockett, M. I.: Cloning and tissue distribution of the human G protein beta-5 cDNA. Biochim. Biophys. Acta 1402: 288-291, 1998.
[0011532]2120.Watson, A. J.; Aragay, A. M.; Slepak, V. Z.; Simon, M. I.: A novel form of the G protein beta subunit G-beta-5 is specifically expressed in the vertebrate retina. J. Biol. Chem. 271: 28154-28160, 1996.
[0011533]2121.Watson, A. J.; Katz, A.; Simon, M. I.: A fifth member of the mammalian G-protein beta subunit family: expression in brain and activation of the beta-2 isotype of phospholipase C. J. Biol. Chem. 269: 22150-22156, 1994.
[0011534]2122.Dixon, B.; Sahely, B.; Liu, L.; Pohajdak, B.: Cloning a cDNA from human NK/T cells which codes for an unusual leucine zipper containing protein. Biochim. Biophys. Acta 1216: 321-324, 1993.
[0011535]2123.Kim, H.-S.: Assignment of the human B3-1 gene (PSCDBP) to chromosome 2 band q11.2 by radiation hybrid mapping. Cytogenet. Cell Genet. 84: 95 only, 1999.
[0011536]2124.Tang, P.; Cheng, T. P.; Agnello, D.; Wu, C.-Y.; Hissong, B. D.; Watford, W. T.; Ahn, H.-J.; Galon, J.; Moss, J.; Vaughan, M.; O'Shea, J. J.; Gadina, M.: Cybr, a cytokine-inducible protein that binds cytohesin-1 and regulates its activity. Proc. Nat. Acad. Sci. 99: 2625-2629, 2002.
[0011537]2125.Nakayama, Y.; Goebl, M.; O'Brine Greco, B.; Lemmon, S.; Pingchang Chow, E.; Kirchhausen, T.: The medium chains of the mammalian clathrin-associated proteins have a homolog in yeast. Europ. J. Biochem. 202: 569-574, 1991.
[0011538]2126.Hiramoto, T.; Nakanishi, T.; Sumiyoshi, T.; Fukuda, T.; Matsuura, S.; Tauchi, H.; Komatsu, K.; Shibasaki, Y.; Inui, H.; Watatani, M.; Yasutomi, M.; Sumii, K.; Kajiyama, G.; Kamada, N.; Miyagawa, K.; Kamiya, K.: Mutations of a novel human RAD54 homologue, RAD54B, in primary cancer. Oncogene 18: 3422-3426, 1999.
[0011539]2127.Miyagawa, K.; Tsuruga, T.; Kinomura, A.; Usui, K.; Katsura, M.; Tashiro, S.; Mishima, H.; Tanaka, K.: A role for RAD54B in homologous recombination in human cells. EMBO J. 21: 175-180, 2002.
[0011540]2128.Tanaka, K.; Hiramoto, T.; Fukuda, T.; Miyagawa, K.: A novel human Rad54 homologue, Rad54B, associates with Rad51. J. Biol. Chem. 275: 26316-26321, 2000.
[0011541]2129.Pillutla, R. C.; Shimamoto, A.; Furuichi, Y.; Shatkin, A. J.: Human mRNA capping enzyme (RNGTT) and cap methyltransferase (RNMT) map to 6q16 and 18p11.22-p11.23, respectively. Genomics 54: 351-353, 1998.
[0011542]2130.Tsukamoto, T.; Shibagaki, Y.; Murakoshi, T.; Suzuki, M.; Nakamura, A.; Gotoh, H.; Mizumoto, K.: Cloning and characterization of two human cDNAs encoding the mRNA capping enzyme. Biochem. Biophys. Res. Commun. 243: 101-108, 1998.
[0011543]2131.Yamada-Okabe, T.; Doi, R.; Shimmi, O.; Arisawa, M.; Yamada-Okabe, H.: Isolation and characterization of a human cDNA for mRNA 5-prime-capping enzyme. Nucleic Acids Res. 26: 1700-1706, 1998.
[0011544]2132.Yue, Z.; Maldonado, E.; Pillutla, R.; Cho, H.; Reinberg, D.; Shatkin, A. J.: Mammalian capping enzyme complements mutant Saccharomyces cerevisiae lacking mRNA guanylyltransferase and selectively binds the elongating form of RNA polymerase II. Proc. Nat. Acad. Sci. 94: 12898-12903, 1997.
[0011545]2133.Ishikawa, K.; Nagase, T.; Nakajima, D.; Seki, N.; Ohira, M.; Miyajima, N.; Tanaka, A.; Kotani, H.; Nomura, N.; Ohara, O.: Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro. DNA Res. 4: 307-313, 1997.
[0011546]2134.Pillutla, R. C.; Yue, Z.; Maldonado, E.; Shatkin, A. J.: Recombinant human mRNA cap methyltransferase binds capping enzyme/RNA polymerase IIo complexes. J. Biol. Chem. 273: 21443-21446, 1998.
[0011547]2135.Tsukamoto, T.; Shibagaki, Y.; Niikura, Y.; Mizumoto, K.: Cloning and characterization of three human cDNAs encoding mRNA (guanine-7)-methyltransferase, an mRNA cap methylase. Biochem. Biophys. Res. Commun. 251: 27-34, 1998.
[0011548]2136.Misra-Press, A.; Cooke, N. E.; Liebhaber, S. A.: Complex alternative splicing partially inactivates the human chorionic somatomammotropin-like (hCS-L) gene. J. Biol. Chem. 269: 23220-23229, 1994.
[0011549]2137.Sawamura, T.; Kume, N.; Aoyama, T.; Moriwaki, H.; Hoshikawa, H.; Aiba, Y.; Tanaka, T.; Miwa, S.; Katsura, Y.; Kita, T.; Masaki, T. : An endothelial receptor for oxidized low-density lipoprotein. Nature 386: 73-77, 1997.
[0011550]2138.Yamanaka, S.; Zhang, X.-Y.; Miura, K.; Kim, S.; Iwao, H.: The human gene encoding the lectin-type oxidized LDL receptor (OLR1) is a novel member of the natural killer gene complex with a unique expression profile. Genomics 54: 191-199, 1998.
[0011551]2139.Zhao, X.-F.; Colaizzo-Anas, T.; Nowak, N. J.; Shows, T. B.; Elliott, R. W.; Aplan, P. D.: The mammalian homologue of mago nashi encodes a serum-inducible protein. Genomics 47: 319-322, 1998.
[0011552]2140.Gorboulev, V.; Ulzheimer, J. C.; Akhoundova, A.; Ulzheimer-Teuber, I.; Karbach, U.; Quester, S.; Baumann, C.; Lang, F.; Busch, A. E.; Koepsell, H.: Cloning and characterization of two human polyspecific organic cation transporters. DNA Cell Biol. 16: 871-881, 1997.
[0011553]2141.Grundemann, D.; Gorboulev, V.; Gambaryan, S.; Veyhl, M.; Koepsell, H.: Drug excretion mediated by a new prototype of polyspecific transporter. Nature 372: 549-552, 1994.
[0011554]2142.Hayer, M.; Bonisch, H.; Bruss, M.: Molecular cloning, functional characterization and genomic organization of four alternatively spliced isoforms of the human organic cation transporter 1 (hOCT1/SLC22A1). Ann. Hum. Genet. 63: 473-482, 1999.
[0011555]2143.Koehler, M. R.; Wissinger, B.; Gorboulev, V.; Koepsell, H.; Schmid, M.: The two human organic cation transporter genes SLC22A1 and SLC22A2 are located on chromosome 6q26. Cytogenet. Cell Genet. 79: 198-200, 1997.
[0011556]2144.Zhang, L.; Dresser, M. J.; Gray, A. T.; Yost, S. C.; Terashita, S.; Giacomini, K. M.: Cloning and functional expression of a human liver organic cation transporter. Molec. Pharm. 51: 913-921, 1997.
[0011557]2145.Grundemann, D.; Schomig, E.: Gene structures of the human non-neuronal monoamine transporters EMT and OCT2. Hum. Genet. 106: 627-635, 2000.
[0011558]2146.McLoughlin, D. M.; Miller, C. C. J.: The intracellular cytoplasmic domain of the Alzheimer's disease amyloid precursor protein interacts with phosphotyrosine-binding domain proteins in the yeast two-hybrid system. FEBS Lett. 397: 197-200, 1996.
[0011559]2147.Guenette, S. Y.; Chen, J.; Jondro, P. D.; Tanzi, R. E.: Association of a novel human FE65-like protein with the cytoplasmic domain of the beta-amyloid precursor protein. Proc. Nat. Acad. Sci. 93: 10832-10837, 1996.
[0011560]2148.Duilio, A.; Faraonio, R.; Minopoli, G.; Zambrano, N.; Russo, T. : Fe65L2: a new member of the Fe65 protein family interacting with the intracellular domain of the Alzheimer's betaamyloid precursor protein. Biochem. J. 330: 513-519, 1998.
[0011561]2149.Tanahashi, H.; Tabira, T.: Genome structure and chromosomal mapping of the gene for Fe65L2 interacting with Alzheimer's beta-amyloid precursor protein. Biochem. Biophys. Res. Commun. 258: 385-389, 1999.
[0011562]2150.Tanahashi, H.; Tabira, T.: Molecular cloning of human Fe65L2 and its interaction with the Alzheimer's beta-amyloid precursor protein. Neurosci. Lett. 261: 143-146, 1999.
[0011563]2151.Howard, L.; Nelson, K. K.; Maciewicz, R. A.; Blobel, C. P.: Interaction of the metalloprotease disintegrins MDC9 and MDC15 with two SH3 domain-containing proteins, endophilin I and SH3PX1. J. Biol. Chem. 274: 31693-31699, 1999.
[0011564]2152.Galliano, M.-F.; Huet, C.; Frygelius, J.; Polgren, A.; Wewer, U. M.; Engvall, E.: Binding of ADAM12, a marker of skeletal muscle regeneration, to the muscle-specific actin-binding protein, alpha-actinin-2, is required for myoblast fusion. J. Biol. Chem. 275: 13933-13939, 2000.
[0011565]2153.Gilpin, B. J.; Loechel, F.; Mattei, M.-G.; Engvall, E.; Albrechtsen, R.; Wewer, U. M.: A novel, secreted form of human ADAM 12 (meltrin alpha) provokes myogenesis in vivo. J. Biol. Chem. 273: 157-166, 1998.
[0011566]2154.Yagami-Hiromasa, T.; Sato, T.; Kurisaki, T.; Kamijo, K.; Nabeshima, Y.; Fujisawa-Sehara, A.: A metalloprotease-disintegrin participating in myoblast fusion. Nature 377: 652-656, 1995.
[0011567]2155.Brown, R. A.; Ho, L. K. F.; Weber-Hall, S. J.; Shipley, J. M.; Fry, M. J.: Identification and cDNA cloning of a novel mammalian C2 domain-containing phosphoinositide 3-kinase, HsC2-PI3K. Biochem. Biophys. Res. Commun. 233: 537-544, 1997.
[0011568]2156.Chantry, D.; Vojtek, A.; Kashishian, A.; Holtzman, D. A.; Wood, C.; Gray, P. W.; Cooper, J. A.; Hoekstra, M. F.: p110-delta, a novel phosphatidylinositol 3-kinase catalytic subunit that associates with p85 and is expressed predominantly in leukocytes. J. Biol. Chem. 272: 19236-19241, 1997.
[0011569]2157.Okkenhaug, K.; Bilancio, A.; Farjot, G.; Priddle, H.; Sancho, S.; Peskett, E.; Pearce, W.; Meek, S. E.; Salpekar, A.; Waterfield, M. D.; Smith, A. J. H.; Vanhaesebroeck, B.: Impaired B and T cell antigen receptor signaling in p110-delta PI 3-kinase mutant mice. Science 297: 1031-1034, 2002.
[0011570]2158.Seki, N.; Nimura, Y.; Ohira, M.; Saito, T.; Ichimiya, S.; Nomura, N.; Nakagawara, A.: Identification and chromosome assignment of a human gene encoding a novel phosphatidylinositol-3 kinase. DNA Res. 4: 355-358, 1997.
[0011571]2159.Vanhaesebroeck, B.; Welham, M. J.; Kotani, K.; Stein, R.; Warne, P. H.; Zvelebil, M. J.; Higashi, K.; Volinia, S.; Downward, J.; Waterfield, M. D.: p110-delta, a novel phosphoinositide 3-kinase in leukocytes. Proc. Nat. Acad. Sci. 94: 4330-4335, 1997.
[0011572]2160.Bowman, M. R.; Crimmins, M. A. V.; Yetz-Aldape, J.; Kriz, R.; Kelleher, K.; Herrmann, S.: The cloning of CD70 and its identification as the ligand for CD27. J. Immun. 152: 1756-1761, 1994.
[0011573]2161.Slaugenhaupt, S. A.; Blumenfeld, A.; Gill, S. P.; Leyne, M.; Mull, J.; Cuajungco, M. P.; Liebert, C. B.; Chadwick, B.; Idelson, M.; Reznik, L.; Robbins, C. M.; Makalowska, I.; Brownstein, M. J.; Krappmann, D.; Scheidereit, C.; Maayan, C.; Axelrod, F. B.; Gusella, J. F.: Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am. J. Hum. Genet. 68: 598-605, 2001.
[0011574]2162.Okubo, M.; Kanda, F.; Horinishi, A.; Takahashi, K.; Okuda, S.; Chihara, K.; Murase, T.: Glycogen storage disease type IIIa: first report of a causative missense mutation (G1448R) of the glycogen debranching enzyme gene found in a homozygous patient. (Abstract) Hum. Mutat. 14: 542-543, 1999.
[0011575]2163.Parvari, R.; Moses, S.; Shen, J.; Hershkovitz, E.; Lerner, A.; Chen, Y.-T.: A single-base deletion in the 3-prime coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients. Europ. J. Hum. Genet. 5: 266-270, 1997.
[0011576]2164.Cheng, G.; Ye, Z.-S.; Baltimore, D.: Binding of Bruton's tyrosine kinase to Fyn, Lyn, or Hck through a Src homology 3 domain-mediated interaction. Proc. Nat. Acad. Sci. 91: 8152-8155, 1994.
[0011577]2165.Gibson, S.; Leung, B.; Squire, J. A.; Hill, M.; Arima, N.; Goss, P.; Hogg, D.; Mills, G. B.: Identification, cloning, and characterization of a novel human T-cell-specific tyrosine kinase located at the hematopoietin complex on chromosome 5q. Blood 82: 1561-1572, 1993.
[0011578]2166.Janis, E. M.; Siliciano, J. D.; Isaac, D. D.; Griffin, C. A.; Hawkins, A. L.; Kozak, C. A.; Desiderio, S.: Mapping of the gene for the tyrosine kinase Itk to a region of conserved synteny between mouse chromosome 11 and human chromosome 5q. Genomics 23: 269-271, 1994.
[0011579]2167.Schaeffer, E. M.; Debnath, J.; Yap, G.; McVicar, D.; Liao, X. C.; Littman, D. R.; Sher, A.; Varmus, H. E.; Lenardo, M. J.; Schwartzberg, P. L.: Requirement for Tec kinases Rlk and Itk in T cell receptor signaling and immunity. Science 284: 638-641, 1999.
[0011580]2168.Woods, M. L.; Kivens, W. J.; Adelsman, M. A.; Qiu, Y.; August, A.; Shimizu, Y.: A novel function for the Tec family tyrosine kinase Itk in activation of beta-1 integrins by the T-cell receptor. EMBO J. 20: 1232-1244, 2001.
[0011581]2169.Blanche, H.; Wright, L. G.; Vergnaud, G.; de Gouyon, B.; Lauthier, V.; Silver, L. M.; Dausset, J.; Cann, H. M.; Spielman, R. S.: Genetic mapping of three human homologues of murine tcomplex genes localizes TCP10 to 6q27, 15 cM distal to TCP1 and PLG. Genomics 12: 826-828, 1992.
[0011582]2170.Spencer, N.; Hopkinson, D. A.: Biochemical genetics of the pentose phosphate cycle: human ribose 5-phosphate isomerase (RPI) and ribulose 5-phosphate 3-epimerase (RPE). Ann. Hum. Genet. 43: 335-342, 1980.
[0011583]2171.Elliott, R. W.; Samuelson, L. C.; Lambert, M. S.; Meisler, M. H. : Assignment of pancreatic ribonuclease gene to mouse chromosome 14. Cytogenet. Cell Genet. 42: 110-112, 1986.
[0011584]2172.Piccoli, R.; Di Gaetano, S.; De Lorenzo, C.; Grauso, M.; Monaco, C.; Spalletti-Cernia, D.; Laccetti, P.; Cinatl, J.; Matousek, J.; D'Alessio, G.: A dimeric mutant of human pancreatic ribonuclease with selective cytotoxicity toward malignant cells. Proc. Nat. Acad. Sci. 96: 7768-7773, 1999.
[0011585]2173.Zhang, J.; Zhang, Y.; Rosenberg, H. F.: Adaptive evolution of a duplicated pancreatic ribonuclease gene in a leaf-eating monkey. Nature Genet. 30: 416-420, 2002.
[0011586]2174.Lilja, H.; Abrahamsson, P.-A.; Lundwall, A.: Semenogelin, the predominant protein in human semen: primary structure and identification of closely related proteins in the male accessory sex glands and on the spermatozoa. J. Biol. Chem. 264: 1894-1900, 1989.
[0011587]2175.Loeffler, C.; Rao, V. V. N. G.; Schnittger, S.; Pfau, H. P.; Lundwall, A.; Schaefer, R.; Stolz, F. M.; Hansmann, I.: Personal Communication. 8/18/1991.
[0011588]2176.Ulvsback, M.; Lazure, C.; Lilja, H.; Spurr, N. K.; Rao, V. V.; Loffler, C.; Hansmann, I.; Lundwall, A.: Gene structure of semenogelin I and II: the predominant proteins in human semen are encoded by two homologous genes on chromosome 20. J. Biol. Chem. 267: 18080-18084, 1992.
[0011589]2177.Byrne, P. C.; Shipley, J. M.; Chave, K. J.; Sanders, P. G.; Snell, K.: Characterisation of a human serine hydroxymethyltransferase pseudogene and its localisation of 1p32.3-33. Hum. Genet. 97: 340-344, 1996.
[0011590]2178.Elsea, S. H.; Juyal, R. C.; Jiralerspong, S.; Finucane, B. M.; Pandolfo, M.; Greenberg, F.; Baldini, A.; Stover, P.; Patel, P. I. : Haploinsufficiency of cytosolic serine hydroxymethyltransferase in the Smith-Magenis syndrome. Am. J. Hum. Genet. 57: 1342-1350, 1995.
[0011591]2179.Baecher, C. M.; Dorfman, K. S.; Mattei, M.-G.; Frelinger, J. G. : cDNA cloning and localization of the mouse leukosialin gene (Ly48) to chromosome 7. Immunogenetics 31: 307-314, 1990.
[0011592]2180.Bazil, V.; Strominger, J. L.: CD43, the major sialoglycoprotein of human leukocytes, is proteolytically cleaved from the surface of stimulated lymphocytes and granulocytes. Proc. Nat. Acad. Sci. 90: 3792-3796, 1993.
[0011593]2181.Delon, J.; Kaibuchi, K.; Germain, R. N.: Exclusion of CD43 from the immunological synapse is mediated by phosphorylation-regulated relocation of the cytoskeletal adaptor moesin. Immunity 15: 691-701, 2001.
[0011594]2182.Pallant, A.; Eskenazi, A.; Mattei, M.-G.; Fournier, R. E. K.; Carlsson, S. R.; Fukuda, M.; Frelinger, J. G.: Characterization of cDNAs encoding human leukosialin and localization of the leukosialin gene to chromosome 16. Proc. Nat. Acad. Sci. 86: 1328-1332, 1989.
[0011595]2183.Park, J. K.; Rosenstein, Y. J.; Remold-O'Donnell, E.; Bierer, B. E.; Rosen, F. S.; Burakoff, S. J.: Enhancement of T-cell activation by the CD43 molecule whose expression is defective in Wiskott-Aldrich syndrome. Nature 350: 706-709, 1991.
[0011596]2184.Rosenstein, Y.; Park, J. K.; Hahn, W. C.; Rosen, F. S.; Bierer, B. E.; Burakoff, S. J.: CD43, a molecule defective in Wiskott-Aldrich syndrome, binds ICAM-1. Nature 354: 233-235, 1991.
[0011597]2185.Schmid, K.; Hediger, M. A.; Brossmer, R.; Collins, J. H.; Haupt, H.; Marti, T.; Offner, G. D.; Schaller, J.; Takagaki, K.; Walsh, M. T.; Schwick, H. G.; Rosen, F. S.; Remold-O'Donnell, E.: Amino acid sequence of human plasma galactoglycoprotein: identity with the extracellular region of CD43 (sialophorin). Proc. Nat. Acad. Sci. 89: 663-667, 1992.
[0011598]2186.Shelley, C. S.; Carroll, M. C.; Davis, A. E., III; Bruns, G. A. P.; Whitehead, A. S.; Finberg, R.; Remold-O'Donnell, E.; Rosen, F. S.: Human sialophorin: cDNA cloning and gene location. (Abstract) FASEB J. 2: A1659 only, 1988.
[0011599]2187.Shelley, C. S.; Remold-O'Donnell, E.; Davis, A. E., III; Bruns, G. A. P.; Rosen, F. S.; Carroll, M. C.; Whitehead, A. S.: Molecular characterization of sialophorin (CD43), the lymphocyte surface sialoglycoprotein defective in Wiskott-Aldrich syndrome. Proc. Nat. Acad. Sci. 86: 2819-2823, 1989.
[0011600]2188.Shelley, C. S.; Remold-O'Donnell, E.; Rosen, F. S.; Whitehead, A. S.: Structure of the human sialophorin (CD43) gene: identification of features atypical of genes encoding integral membrane proteins. Biochem. J. 270: 569-576, 1990.
[0011601]2189.van den Berg, T. K.; Nath, D.; Ziltener, H. J.; Vestweber, D.; Fukuda, M.; van Die, I.; Crocker, P. R.: Cutting edge: CD43 functions as a T cell counterreceptor for the macrophage adhesion receptor sialoadhesin (Siglec-1). J. Immun. 166: 3637-3640, 2001.
[0011602]2190.Ianakiev, P.; Kilpatrick, M. W.; Toudjarska, I.; Basel, D.; Beighton, P.; Tsipouras, P.: Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. Am. J. Hum. Genet. 67: 59-66, 2000.
[0011603]2191.Allen, R. C.; Webster, A. R.; Sui, R.; Brown, J.; Taylor, C. M.; Stone, E. M.: Molecular characterization and ophthalmic investigation of a large family with type 2A von Hippel-Lindau disease. Arch. Ophthal. 119: 1659-1665, 2001.
[0011604]2192.Boissy, R. E.; Zhao, H.; Oetting, W. S.; Austin, L. M.; Wildenberg, S. C.; Boissy, Y. L.; Zhao, Y.; Sturm, R. A.; Hearing, V. J.; King, R. A.; Nordlund, J. J.: Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as 'OCA3.' Am. J. Hum. Genet. 58: 1145-1156, 1996.
[0011605]2193.Anikster, Y.; Huizing, M.; White, J.; Shevchenko, Y. O.; Fitzpatrick, D. L.; Touchman, J. W.; Compton, J. G.; Bale, S. J.; Swank, R. T.; Gahl, W. A.; Toro, J. R.: Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. Nature Genet. 28: 376-380, 2001.
[0011606]2194.Feng, G. H.; Bailin, T.; Oh, J.; Spritz, R. A.: Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron. Hum. Molec. Genet. 6: 793-797, 1997.
[0011607]2195.Gahl, W. A.; Brantly, M.; Kaiser-Kupfer, M. I.; Iwata, F.; Hazelwood, S.; Shotelersuk, V.; Duffy, L. F.; Kuehl, E. M.; Troendle, J.; Bernardini, I.: Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). New Eng. J. Med. 338: 1258-1264, 1998.
[0011608]2196.Oh, J.; Bailin, T.; Fukai, K.; Feng, G. H.; Ho, L.; Mao, J.; Frenk, E.; Tamura, N.; Spritz, R. A.: Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Nature Genet. 14: 300-306, 1996.
[0011609]2197.Escamilla, M. A.; DeMille, M. C.; Benavides, E.; Roche, E.; Almasy, L.; Pittman, S.; Hauser, J.; Lew, D. F.; Freimer, N. B.; Whittle, M. R.: A minimalist approach to gene mapping: locating the gene for acheiropodia, by homozygosity analysis. Am. J. Hum. Genet. 66: 1995-2000, 2000.
[0011610]2198.Ianakiev, P.; van Baren, M. J.; Daly, M. J.; Toledo, S. P. A.; Cavalcanti, M. G.; Neto, J. C.; Silveira, E. L.; Freire-Maia, A.; Heutink, P.; Kilpatrick, M. W.; Tsipouras, P.: Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene. Am. J. Hum. Genet. 68: 38-45, 2001.
[0011611]2199.Beebe, S. J.; Oyen, O.; Sandberg, M.; Froysa, A.; Hansson, V.; Jahnsen, T.: Molecular cloning of a tissue-specific protein kinase (C gamma) from human testis--representing a third isoform for the catalytic subunit of cAMP-dependent protein kinase. Molec. Endocr. 4: 465-475, 1990.
[0011612]2200.Foss, K. B.; Berube, D.; Simard, J.; Beebe, S. J.; Sandberg, M.; Grzeschik, K.-H.; Gagne, R.; Hansson, V.; Jahnsen, T.: Localization of the catalytic subunit C-gamma of cAMP-dependent protein kinase on human chromosome 9q13. (Abstract) Cytogenet. Cell Genet. 58: 1937-1938, 1991.
[0011613]2201.Foss, K. B.; Simard, J.; Berube, D.; Beebe, S. J.; Sandberg, M.; Grzeschik, K.-H.; Gagne, R.; Hansson, V.; Jahnsen, T.: Localization of the catalytic subunit C-gamma of the cAMPdependent protein kinase gene (PRKACG) to human chromosome region 9q13. Cytogenet. Cell Genet. 60: 22-25, 1992.
[0011614]2202.Reinton, N.; Haugen, T. B.; Orstavik, S.; Skalhegg, B. S.; Hansson, V.; Jahnsen, T.; Tasken, K.: The gene encoding the C gamma catalytic subunit of cAMP-dependent protein kinase is a transcribed retroposon. Genomics 49: 290-297, 1998.
[0011615]2203.Orstavik, S.; Natarajan, V.; Tasken, K.; Jahnsen, T.; Sandberg, M.: Characterization of the human gene encoding the type I-alpha and type I-beta cGMP-dependent protein kinase (PRKG1). Genomics 42: 311-318, 1997.
[0011616]2204.Orstavik, S.; Sandberg, M.; Berube, D.; Natarajan, V.; Simard, J.; Walter, U.; Gagne, R.; Hansson, V.; Jahnsen, T.: Localization of the human gene for type I cyclic GMP-dependent protein kinase to chromosome 10. Cytogenet. Cell Genet. 59: 270-273, 1992.
[0011617]2205.Osborne, K. A; Robichon, A.; Burgess, E.; Butland, S.; Shaw, R. A.; Coulthard, A.; Pereira, H. S.; Greenspan, R. J.; Sokolowski, M. B.: Natural behavior polymorphism due to a cGMPdependent protein kinase of Drosophila. Science 277: 834-836, 1997.
[0011618]2206.Pfeifer, A.; Klatt, P.; Massberg, S.; Ny, L.; Sausbier, M.; Hirneill, C.; Wang, G.-X.; Korth, M.; Aszodi, A.; Andersson, K.-E.; Krombach, F.; Mayerhofer, A.; Ruth, P.; Fassler, R.; Hofmann, F.: Defective smooth muscle regulation in cGMP kinase I-deficient mice. EMBO J. 17: 3045-3051, 1998.
[0011619]2207.Sandberg, M.; Natarajan, V.; Ronander, I.; Kalderon, D.; Walter, U.; Lohmann, S. M.; Jahnsen, T.: Molecular cloning and predicted full-length amino acid sequence of the type I beta isozyme of cGMP-dependent protein kinase from human placenta: tissue distribution and developmental changes in rat. FEBS Lett. 255: 321-329, 1989.
[0011620]2208.Tamura, N.; Itoh, H.; Ogawa, Y.; Nakagawa, O.; Harada, M.; Chun, T.-H.; Suga, S.; Yoshimasa, T.; Nakao, K.: cDNA cloning and gene expression of human type I-alpha cGMP-dependent protein kinase. Hypertension 27: 552-557, 1996.
[0011621]2209.Oyen, O.; Myklebust, F.; Scott, J. D.; Hansson, V.; Jahnsen, T. : Human testis cDNA for the regulatory subunit RII alpha of cAMP-dependent protein kinase encodes an alternate amino-terminal region. FEBS Lett. 246: 57-64, 1989.
[0011622]2210.Tasken, K.; Naylor, S. L.; Solberg, R.; Jahnsen, T.: Mapping of the gene encoding the regulatory subunit RII-alpha of cAMP-dependent protein kinase (locus PRKAR2A) to human chromosome region 3p21.3-p21.2. Genomics 50: 378-381, 1998.
[0011623]2211.Solberg, R.; Sistonen, P.; Traskelin, A.-L.; Berube, D.; Simard, J.; Krajci, P.; Jahnsen, T.; de la Chapelle, A.: Mapping of the regulatory subunits RI-beta and RII-beta of cAMP-dependent protein kinase genes on human chromosome 7. Genomics 14: 63-69, 1992.
[0011624]2212.Cummings, D. E.; Brandon, E. P.; Planas, J. V.; Motamed, K.; Idzerda, R. L.; McKnight, G. S.: Genetically lean mice result from targeted disruption of the RII-beta subunit of protein kinase A. Nature 382: :622-626, 1996.
[0011625]2213.Scambler, P.; Oyen, O.; Wainwright, B.; Farrall, M.; Law, H.-Y.; Estivill, X.; Sandberg, M.; Williamson, R.; Jahnsen, T.: Exclusion of catalytic and regulatory subunits of cAMP-dependent protein kinase as candidate genes for the defect causing cystic fibrosis. Am. J. Hum. Genet. 41: 925-932, 1987.
[0011626]2214.Wainwright, B.; Lench, N.; Davies, K.; Scambler, P.; Kruyer, H.; Williamson, R.; Jahnsen, T.; Farrall, M.: A human regulatory subunit of type II cAMP-dependent protein kinase localized by its linkage relationship to several cloned chromosome 7q markers. Cytogenet. Cell Genet. 45: 237-239, 1987.
[0011627]2215.Norman, S. A.; Mott, D. M.: Molecular cloning and chromosomal localization of a human skeletal muscle PP-1-gamma-1 cDNA. Mammalian Genome 5: 41-45, 1994.
[0011628]2216.Sugawara, S.; Uehara, A.; Nochi, T.; Yamaguchi, T.; Ueda, H.; Sugiyama, A.; Hanzawa, K.; Kumagai, K.; Okamura, H.; Takada, H.: Neutrophil proteinase 3-mediated induction of bioactive IL-18 secretion by human oral epithelial cells. J. Immun. 167: 6568-6575, 2001.
[0011629]2217.Akiyama, K.; Yokota, K.; Kagawa, S.; Shimbara, N.; Tamura, T.; Akioka, H.; Nothwang, H. G.; Noda, C.; Tanaka, K.; Ichihara, A.: cDNA cloning and interferon gamma downregulation of proteasomal subunits X and Y. Science 265: 1231-1234, 1994.
[0011630]2218.Driscoll, J.; Brown, M. G.; Finley, D.; Monaco, J. J.: MHC-linked LMP gene products specifically alter peptidase activities of the proteasome. Nature 365: 262-264, 1993.
[0011631]2219.Gaczynska, M.; Rock, K. L.; Goldberg, A. L.: Gamma-interferon and expression of MHC genes regulate peptide hydrolysis by proteasomes. Nature 365: 264-267, 1993.
[0011632]2220.Glynne, R.; Powis, S. H.; Beck, S.; Kelly, A.; Kerr, L. A.; Trowsdale, J.: A proteasomerelated gene between the two ABC transporter loci in the class II region of the human MHC. Nature 353: 357-360, 1991.
[0011633]2221.Gray, P. W.; Barrett, K.; Chantry, D.; Turner, M.; Feldmann, M. : Cloning of human tumor necrosis factor (TNF) receptor cDNA and expression of recombinant soluble TNF-binding protein. Proc. Nat. Acad. Sci. 87: 7380-7384, 1990.
[0011634]2222.Hohmann, H.-P.; Remy, R.; Brockhaus, M.; van Loon, A. P. G. M. : Two different cell types have different major receptors for human tumor necrosis factor (TNF-alpha). J. Biol. Chem. 264: 14927-14934, 1989.
[0011635]2223.Karenko, L.; Pettersson, T.; Roberts, P.: Autosomal dominant 'Mediterranean fever' in a Finnish family. J. Int. Med. 232: 365-369, 1992.
[0011636]2224.Loetscher, H.; Pan, Y.-C. E.; Lahm, H.-W.; Gentz, R.; Brockhaus, M.; Tabuchi, H.; Lesslauer, W.: Molecular cloning and expression of the human 55 kd tumor necrosis factor receptor. Cell 61: 351-359, 1990.
[0011637]2225.McDermott, M. F.; Aksentijevich, I.; Galon, J.; McDermott, E. M.; Ogunkolade, B. W.; Centola, M.; Mansfield, E.; Gadina, M.; Karenko, L.; Pettersson, T.; McCarthy, J.; Frucht, D. M.; and 21 others: Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell 97: 133-144, 1999.
[0011638]2226.McDermott, M. F.; Ogunkolade, B. W.; McDermott, E. M.; Jones, L. C.; Wan, Y.; Quane, K. A.; McCarthy, J.; Phelan, M.; Molloy, M. G.; Powell, R. J.; Amos, C. I.; Hitman, G. A.: Linkage of familial Hibernian fever to chromosome 12p13. Am. J. Hum. Genet. 62: 1446-1451, 1998.
[0011639]2227.Milatovich, A.; Song, K.; Heller, R. A.; Francke, U.: The genes for two tumor necrosis factor receptors, TNFR1 and TNFR2, map to human chromosomes 12 (12pter-cen) and 1 (1pter-p32). (Abstract) Cytogenet. Cell Genet. 58: 1980 only, 1991.
[0011640]2228.Milatovich, A.; Song, K.; Heller, R. A.; Francke, U.: Tumor necrosis factor receptor genes, TNFR1 and TNFR2, on human chromosomes 12 and 1. Somat. Cell Molec. Genet. 17: 519-523, 1991.
[0011641]2229.Nophar, Y.; Kemper, O.; Brakebusch, C.; Engelmann, H.; Zwang, R.; Aderka, D.; Holtmann, H.; Wallach, D.: Soluble forms of tumor necrosis factor receptors (TNF-Rs): the cDNA for the type I TNF-R, cloned using amino acid sequence data of its soluble form, encodes both the cell surface and a soluble form of the receptor. EMBO J. 9: 3269-3278, 1990.
[0011642]2230.Qian, Y.; Dekaris, I.; Yamagami, S.; Dana, R.: Topical soluble tumor necrosis factor receptor type I suppresses ocular chemokine gene expression and rejection of allogeneic corneal transplants. Arch. Ophthal. 118: 1666-1671, 2000.
[0011643]2231.Rothe, J.; Lesslauer, W.; Lotscher, H.; Lang, Y.; Koebel, P.; Kontgen, F.; Althage, A.; Zinkernagel, R.; Steinmetz, M.; Bluethmann, H.: Mice lacking the tumour necrosis factor receptor 1 are resistant to TNF-mediated toxicity but highly susceptible to infection by Listeria monocytogenes. Nature 364: 798-802, 1993.
[0011644]2232.Schall, T. J.; Lewis, M.; Koller, K. J.; Lee, A.; Rice, G. C.; Wong, G. H. W.; Gatanaga, T.; Granger, G. A.; Lentz, R.; Raab, H.; Kohr, W. J.; Goeddel, D. V.: Molecular cloning and expression of a receptor for human tumor necrosis factor. Cell 61: 361-370, 1990.
[0011645]2233.Schievella, A. R.; Chen, J. H.; Graham, J. R.; Lin, L.-L.: MADD, a novel death domain protein that interacts with the type 1 tumor necrosis factor receptor and activates mitogen-activated protein kinase. J. Biol. Chem. 272: 12069-12075, 1997.
[0011646]2234.Smith, C. A.; Davis, T.; Anderson, D.; Solam, L.; Beckmann, M. P.; Jerzy, R.; Dower, S. K.; Cosman, D.; Goodwin, R. G.: A receptor for tumor necrosis factor defines an unusual family of cellular and viral proteins. Science 248: 1019-1023, 1990.
[0011647]2235.Stauber, G. B.; Aiyer, R. A.; Aggarwal, B. B.: Human tumor necrosis factor-alpha receptor: purification by immunoaffinity chromatography and initial characterization. J. Biol. Chem. 263: 19098-19104, 1988.
[0011648]2236.Beltinger, C. P.; White, P. S.; Maris, J. M.; Sulman, E. P.; Jensen, S. J.; LePaslier, D.; Stallard, B. J.; Goeddel, D. V.; de Sauvage, F. J.; Brodeur, G. M.: Physical mapping and genomic structure of the human TNFR2 gene. Genomics 35: 94-100, 1996.
[0011649]2237.Kaufman, B. A.; White, P. S.; Steinbrueck, T.; Donis-Keller, H.; Brodeur, G. M.: Linkage mapping of the tumor necrosis factor receptor 2 (TNFR2) gene to 1p36.2 using the single-strand conformation polymorphism technique. Hum. Genet. 94: 418-422, 1994.
[0011650]2238.Kemper, O.; Derre, J.; Cherif, D.; Engelmann, H.; Wallach, D.; Berger, R.: The gene for the type II (p75) tumor necrosis factor receptor (TNF-RII) is localized on band 1p36.2-p36.3. Hum. Genet. 87: 623-624, 1991.
[0011651]2239.Li, X.; Yang, Y.; Ashwell, J. D.: TNF-RII and c-IAP1 mediate ubiquitination and degradation of TRAF2. Nature 416: 345-349, 2002.
[0011652]2240.Santee, S. M.; Owen-Schaub, L. B.: Human tumor necrosis factor receptor p75/80 (CD120b) gene structure and promoter characterization. J. Biol. Chem. 271: 21151-21159, 1996.
[0011653]2241.Hon, W.-C.; Wilson, M. I.; Harlos, K.; Claridge, T. D. W.; Schofield, C. J.; Pugh, C. W.; Maxwell, P. H.; Ratcliffe, P. J.; Stuart, D. I.; Jones, E. Y.: Structural basis for the recognition of hydroxyproline in HIF-1-alpha by pVHL. Nature 417: 975-978, 2002.
[0011654]2242.Godfrey, M.; Hollister, D. W.: Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen. Am. J. Hum. Genet. 43: 904-913, 1988.
[0011655]2243.Takenaka, M.; Noguchi, T.; Sadahiro, S.; Hirai, H.; Yamada, K.; Matsuda, T.; Imai, E.; Tanaka, T.: Isolation and characterization of the human pyruvate kinase M gene. Europ. J. Biochem. 198: 101-106, 1991.
[0011656]2244.Tani, K.; Yoshida, M. C.; Satoh, H.; Mitamura, K.; Noguchi, T.; Tanaka, T.; Fujii, H.; Miwa, S.: Human M(2)-type pyruvate kinase: cDNA cloning, chromosomal assignment and expression in hepatoma. Gene 73: 509-516, 1988.
[0011657]2245.Tsutsumi, H.; Tani, K.; Fujii, H.; Miwa, S.: Expression of L- and M-type pyruvate kinase in human tissues. Genomics 2: 86-89, 1988.
[0011658]2246.Williams, J. M.; Chen, G.-C.; Zhu, L.; Rest, R. F.: Using the yeast two-hybrid system to identify human epithelial cell proteins that bind gonococcal Opa proteins: intracellular gonococci bind pyruvate kinase via their Opa proteins and require host pyruvate for growth. Molec. Microbiol. 27: 171-186, 1998.
[0011659]2247.Westerveld, A.; Van Someren, H.; Van Henegouwen, H. M. A.; Oosterbaan, R. A.: Synteny relationship between the human loci for hexosaminidase-A, mannose phosphate isomerase, and pyruvate kinase-3: studies in man-Chinese hamster somatic cell hybrids. Birth Defects Orig. Art. Ser. XI(3): 283-284, 1975. Note: Alternate: Cytogenet. Cell Genet. 14: 453-454, 1975.
[0011660]2248.Seabra, M. C.; Brown, M. S.; Goldstein, J. L.: Retinal degeneration in choroideremia: deficiency of Rab geranylgeranyl transferase. Science 259: 377-381, 1993.
[0011661]2249.Seabra, M. C.; Brown, M. S.; Slaughter, C. A.; Sudhof, T. C.; Goldstein, J. L.: Purification of component A of Rab geranylgeranyl transferase: possible identity with the choroideremia gene product. Cell 70: 1049-1057, 1992.
[0011662]2250.Seabra, M. C.; Reiss, Y.; Casey, P. J.; Brown, M. S.; Goldstein, J. L.: Protein farnesyltransferase and geranylgeranyltransferase share a common alpha subunit. Cell 65: 429-434, 1991.
[0011663]2251.van Bokhoven, H.; Rawson, R. B.; Merkx, G. F. M.; Cremers, F. P. M.; Seabra, M. C.: cDNA cloning and chromosomal localization of the genes encoding the alpha- and beta-subunits of human Rab geranylgeranyl transferase: the 3-prime end of the alpha-subunit gene overlaps with the transglutaminase 1 gene promoter. Genomics 38: 133-140, 1996.
[0011664]2252.Koken, M. H. M.; Smit, E. M. E.; Jaspers-Dekker, I.; Oostra, B. A.; Hagemeijer, A.; Bootsma, D.; Hoeijmakers, J. H. J.: Localization of two human homologs, HHR6A and HHR6B, of the yeast DNA repair gene RAD6 to chromosomes Xq24-q25 and 5q23-q31. Genomics 12: 447-453, 1992.
[0011665]2253.Lench, N. J.; Thompson, J.; Markham, A. F.; Robinson, P. A.: (CGG) trinucleotide repeat polymorphism in the 5-prime region of the HHR6B gene: the human homolog of the yeast DNA repair gene RAD6. Hum. Genet. 96: 369-370, 1995.
[0011666]2254.Roest, H. P.; van Klaveren, J.; de Wit, J.; van Gurp, C. G.; Koken, M. H. M.; Vermey, M.; van Roijen, J. H.; Hoogerbrugge, J. W.; Vreeburg, J. T. M.; Baarends, W. M.; Bootsma, D.; Grootegoed, J. A.; Hoeijmakers, J. H. J.: Inactivation of the HR6B ubiquitin-conjugating DNA repair enzyme in mice causes male sterility associated with chromatin modification. Cell 86: 799-810, 1996.
[0011667]2255.Roller, M. L.; Lossie, A. C.; Koken, M. H. M.; Smit, E. M. E.; Hagemeijer, A.; Camper, S. A.: Localization of sequences related to the human RAD6 DNA repair gene on mouse chromosomes 11 and 13. Mammalian Genome 6: 305-306, 1995.
[0011668]2256.Baur, M. P.; Rittner, C.: Application of a computer program for the mapping of a gene locus to the disputed PGM-3 localization on human chromosome 6. Tissue Antigens 12: 341-349, 1978.
[0011669]2257.Burgess, R. M.; Sutton, J. G.: An improved method of typing hair sheath cells using the PGM-3 locus following starch gel electrophoresis. Hum. Genet. 56: 391-393, 1981.
[0011670]2258.Hopkinson, D. A.; Harris, H.: A third phosphoglucomutase locus in man. Ann. Hum. Genet. 31: 359-368, 1968.
[0011671]2259.Jahannsmann, R.; Schwinger, E.; Grzeschik, K. H.: Assignment of the gene locus for human phosphoglucomutase 3 to chromosome 6q12-qter. Ann. Genet. 23: 12-14, 1980.
[0011672]2260.Jongsma, A.; Van Someren, H.; Westerveld, A.; Hagemeijer, A.; Pearson, P. L.: Localization of genes on human chromosomes by studies of human-Chinese hamster somatic cell hybrids. Assignment of PGM to chromosome C6 and regional mapping of the PGD, PGM, and pep-C genes on chromosome A1. Humangenetik 20: 195-202, 1973.
[0011673]2261.Kompf, J.; Bissbort, S.; Gohler, F.; Schunter, F.; Wernet, P.: Mapping of the linkage group GLO-Bf-HLA-B, C, A-PGM. I. Recombination frequencies. Hum. Genet. 44: 313-319, 1978.
[0011674]2262.Lamm, L. U.; Jorgensen, F.; Kissmeyer-Nielsen, F.: On the mapping of PGM-3 in relation to HLA. Tissue Antigens 17: 245-246, 1981.
[0011675]2263.Lamm, L. U.; Kissmeyer-Nielsen, F.; Henningsen, K.: Linkage and association studies of two phosphoglucomutase loci (PGM-1 and PGM-3) to eighteen other markers. Hum. Hered. 20: 305-318, 1970.
[0011676]2264.Li, C.; Rodriguez, M.; Banerjee, D.: Cloning and characterization of complementary DNA encoding human N-acetylglucosamine-phosphate mutase protein. Gene 242: 97-103, 2000.
[0011677]2265.McCaw, B. K.; Hecht, F.; Linder, D.; Lovrien, E. W.; Wyandt, H.; Bacon, D.; Clark, B.; Lea, N.: Ovarian teratomas: cytologic data. Cytogenet. Cell Genet. 16: 391-395, 1976.
[0011678]2266.Mohandas, T.; Sparkes, R. S.; Shulkin, J. D.; Sparkes, M. C.; Moedjono, S.: Assignment of PGM3 to the long arm of human chromosome 6: studies using Chinese hamster-human cell hybrids containing a human 6-15 translocation. Cytogenet. Cell Genet. 28: 116-120, 1980.
[0011679]2267.Nadeau, J. H.; Kompf, J.; Siebert, G.; Taylor, B. A.: Linkage of Pgm-3 in the house mouse and homologies of three phosphoglucomutase loci in mouse and man. Biochem. Genet. 19: 465-474, 1981.
[0011680]2268.Pang, H.; Koda, Y.; Soejima, M.; Kimura, H.: Identification of human phosphoglucomutase 3 (PGM3) as N-acetylglucosamine-phosphate mutase (AGM1). Ann. Hum. Genet. 66: 139-144, 2002.
[0011681]2269.Parrington, J.; West, L.; Povey, S.: Gene mapping from ovarian teratomas. (Abstract) Cytogenet. Cell Genet. 25: 196 only, 1979.
[0011682]2270.Van Someren, H.; Van Henegouwen, H. B.; Los, W.; Wurzer-Figurelli, E.; Doppert, B.; Vervloet, M.; Meera Khan, P.: Enzyme electrophoresis on cellulose acetate gel: zymogram patterns in man-Chinese hamster somatic cell hybrids. Humangenetik 25: 189-201, 1974.
[0011683]2271.Hickey, M. J.; Williams, S. A.; Roth, G. J.: Human platelet glycoprotein IX: an adhesive prototype of leucine-rich glycoproteins with flank-center-flank structures. Proc. Nat. Acad. Sci. 86: 6773-6777, 1989.
[0011684]2272.Noris, P.; Arbustini, E.; Spedini, P.; Belletti, S.; Balduini, C. L.: A new variant of Bernard-Soulier syndrome characterized by dysfunctional glycoprotein (GP) Ib and severely reduced amounts of GPIX and GPV. Brit. J. Haemat. 103: 1004-1013, 1998.
[0011685]2273.Noris, P.; Simsek, S.; Stibbe, J.; von dem Borne, A. E. G. K.: A phenylalanine-55 to serine amino-acid substitution in the human glycoprotein IX leucine-rich repeat is associated with Bernard-Soulier syndrome. Brit. J. Haemat. 97: 312-320, 1997.
[0011686]2274.Rivera, C. E.; Villagra, J.; Riordan, M.; Williams, S.; Lindstrom, K. J.; Rick, M. E.: Identification of a new mutation in platelet glycoprotein IX (GPIX) in a patient with Bernard-Soulier syndrome. Brit. J. Haemat. 112: 105-108, 2001.
[0011687]2275.Wright, S. D.; Michaelides, K.; Johnson, D. J. D.; West, N. C.; Tuddenham, E. G. D.: Double heterozygosity for mutations in the platelet glycoprotein IX gene in three siblings with Bernard-Soulier syndrome. Blood 81: 2339-2347, 1993.
[0011688]2276.Tobe, T.; Minoshima, S.; Yamase, S.; Choi, N.-H.; Tomita, M.; Shimizu, N.: Assignment of a human serum glycoprotein SP-40,40 gene (CLI) to chromosome 8. Cytogenet. Cell Genet. 57: 193-195, 1991.
[0011689]2277.Wong, P.; Pineault, J.; Lakins, J.; Taillefer, D.; Leger, J.; Wang, C.; Tenniswood, M.: Genomic organization and expression of the rat TRPM-2 (clusterin) gene, a gene implicated in apoptosis. J. Biol. Chem. 268: 5021-5031, 1993.
[0011690]2278.Wong, P.; Taillefer, D.; Lakins, J.; Pineault, J.; Chader, G.; Tenniswood, M.: Molecular characterization of human TRPM-2/clusterin, a gene associated with sperm maturation, apoptosis and neurodegeneration. Europ. J. Biochem. 221: 917-925, 1994.
[0011691]2279.de Ronde, A.; Mannens, M.; Slater, R. M.; Hoovers, J.; Heyting, C.; Bleeker-Wagemakers, E. M.; Leschot, N. J.; Van Strien, A.; Sol, C. J. A.; Ter Schegget, J.; van der Noordaa, J.: Morphological transformation by early region human polyomavirus BK DNA of human fibroblasts with deletions in the short arm of one chromosome 11. J. Gen. Virol. 69: 467-471, 1988.
[0011692]2280.Seilhamer, J. J.; Randall, T. L.; Johnson, L. K.; Heinzmann, C.; Klisak, I.; Sparkes, R. S.; Lusis, A. J.: Novel gene exon homologous to pancreatic phospholipase A(2): sequence and chromosomal mapping of both human genes. J. Cell. Biochem. 39: 327-337, 1989.
[0011693]2281.Cormier, R. T.; Hong, K. H.; Halberg, R. B.; Hawkins, T. L.; Richardson, P.; Mulherkar, R.; Dove, W. F.; Lander, E. S.: Secretory phospholipase Pla2g2a confers resistance to intestinal tumorigenesis. Nature Genet. 17: 88-91, 1997.
[0011694]2282.Dennis, E. A.: Diversity of group types, regulation, and function of phospholipase A2. J. Biol. Chem. 269: 13057-13060, 1994.
[0011695]2283.Dietrich, W. F.; Lander, E. S.; Smith, J. S.; Moser, A. R.; Gould, K. A.; Luongo, C.; Borenstein, N.; Dove, W.: Genetic identification of Mom-1, a major modifier locus affecting Min-induced intestinal neoplasia in the mouse. Cell 75: 631-639, 1993.
[0011696]2284.Dobbie, Z.; Heinimann, K.; Bishop, D. T.; Muller, H.; Scott, R. J.: Identification of a modifier gene locus on chromosome 1p35-36 in familial adenomatous polyposis. Hum. Genet. 99: 653-657, 1997.
[0011697]2285.Dragani, T. A.; Manenti, G.: Mom1 leads the pack. Nature Genet. 17: 7-8, 1997.
[0011698]2286.Haapamaki, M. M.; Gronroos, J. M.; Nurmi, H.; Alanen, K.; Kallajoki, M.; Nevalainen, T. J.: Gene expression of group II phospholipase A2 in intestine in ulcerative colitis. Gut 40: 95-101, 1997.
[0011699]2287.Johnson, L. K.; Frank, S.; Vades, P.; Pruzanski, W.; Lusis, A. J.; Seilhamer, J. J.: Localization and evolution of two human phospholipase A2 genes and two related genetic elements.In: Wong, P. Y.-K.; Dennis, E. A.: Phospholipase A2. New York: Plenum Press (pub.) 1990. Pp. 17-34.
[0011700]2288.Johnson, L. K.; Seilhamer, J. J.; Frank, S.; Lusis, A.; Vadas, P.; Pruzanski, W.: Synovial fluid phospholipase A(2): chromosomal co-localization with homologous genes may provide diseaserelated PLA(2) diversity. (Abstract) Arthritis Rheum. 33 (suppl.): S79, 1990.
[0011701]2289.MacPhee, M.; Chepenik, K. P.; Liddell, R. A.; Nelson, K. K.; Siracusa, L. D.; Buchberg, A. M.: The secretory phospholipase A2 gene is a candidate for the Mom1 locus, a major modifier of Apc(Min)-induced intestinal neoplasia. Cell 81: 957-966, 1995.
[0011702]2290.Masharani, U.; Coleman, R. T.; Johnson, L. K.; Seilhamer, J. J. : EcoRI and NsiI RFLPs at a human PLA2 gene on chromosome 1. Nucleic Acids Res. 16: 9073, 1988.
[0011703]2291.Moser, A. R.; Dove, W. F.; Roth, K. A.; Gordon, J. I.: The Min (multiple intestinal neoplasia) mutation: its effect on gut epithelial cell differentiation and interaction with a modifier system. J. Cell Biol. 116: 1517-1526, 1992.
[0011704]2292.Moser, A. R.; Mattes, E. M.; Dove, W. F.; Lindstrom, M. J.; Haag, J. D.; Gould, M. N.: Apc(Min), a mutation in the murine Apc gene, predisposes to mammary carcinomas and focal alveolar hyperplasias. Proc. Nat. Acad. Sci. 90: 8977-8981, 1993.
[0011705]2293.Moser, A. R.; Pitot, H. C.; Dove, W. F.: A dominant mutation that predisposes to multiple intestinal neoplasia in the mouse. Science 247: 322-324, 1990.
[0011706]2294.Nadeau, J. H.: Modifier genes in mice and humans. Nature Rev. 2: 165-174, 2001.
[0011707]2295.Nimmrich, I.; Friedl, W.; Kruse, R.; Pietsch, S.; Hentsch, S.; Deuter, R.; Winde, G.; Muller, O.: Loss of the PLA2G2A gene in a sporadic colorectal tumor of a patient with a PLA2G2A germline mutation and absence of PLA2G2A germline alterations in patients with FAP. Hum. Genet. 100: 345-349, 1997.
[0011708]2296.Seilhamer, J. J.; Plant, S.; Pruzanski, W.; Schilling, J.; Stefanski, E.; Vadas, P.; Johnson, L. K.: Multiple forms of phospholipase A(2) in arthritic synovial fluid. J. Biochem. 106: 38-42, 1989.
[0011709]2297.Seilhamer, J. J.; Pruzanski, W.; Vadas, P.; Plant, S.; Miller, J. A.; Kloss, J.; Johnson, L. K.: Cloning and recombinant expression of phospholipase A(2) present in rheumatoid arthritic synovial fluid. J. Biol. Chem. 264: 5335-5338, 1989.
[0011710]2298.Seilhamer, J. J.; Randall, T. L.; Johnson, L. K.; Lusis, A.; Sparkes, R. S.; Heinzman, C.: Chromosomal mapping of human pancreatic PLA2 and a homologous PLA2 exon. (Abstract) J. Cell. Biochem. (Suppl. 12E): 55 only, 1988.
[0011711]2299.Su, L.-K.; Kinzler, K. W.; Vogelstein, B.; Preisinger, A. C.; Moser, A. R.; Luongo, C.; Gould, K. A.; Dove, W. F.: Multiple intestinal neoplasia caused by a mutation in the murine homolog of the APC gene. Science 256: 668-670, 1992.
[0011712]2300.Bristol, A.; Hall, S. M.; Kriz, R. W.; Stahl, M. L.; Fan, Y. S.; Byers, M. G.; Eddy, R. L.; Shows, T. B.; Knopf, J. L.: Phospholipase C-148: chromosomal location and deletion mapping of functional domains. Cold Spring Harbor Symp. Quant. Biol. 53: 915-920, 1988.
[0011713]2301.Nelson, K. K.; Knopf, J. L.; Siracusa, L. D.: Localization of phospholipase C-gamma 1 to mouse chromosome 2. Mammalian Genome 3: 597-600, 1992.
[0011714]2302.Rothschild, C. B.; Akots, G.; Fajans, S. S.; Bowden, D. W.: A microsatellite polymorphism associated with the PLC1 (phospholipase C) locus: identification, mapping, and linkage to the MODY locus on chromosome 20. Genomics 13: 560-564, 1992.
[0011715]2303.Stahl, M. L.; Ferenz, C. R.; Kelleher, K. L.; Kriz, R. W.; Knopf, J. L.: Sequence similarity of phospholipase C with the non-catalytic region of src. Nature 332: 269-272, 1988.
[0011716]2304.Phillips, S. A.; Barr, V. A.; Haft, D. H.; Taylor, S. I.; Haft, C. R.: Identification and characterization of SNX15, a novel sorting nexin involved in protein trafficking. J. Biol. Chem. 276: 5074-5084, 2001.
[0011717]2305.Roberts, W. M.; Look, A. T.; Ruossel, M. F.; Sherr, C. J.: Tandem linkage of human CSF-1 receptor (c-fms) and PDGF receptor genes. Cell 55: 655-661, 1988.
[0011718]2306.Smith, E. A.; Seldin, M. F.; Martinez, L.; Watson, M. L.; Ghosh Choudhury, G.; Lalley, P. A.; Pierce, J.; Aaronson, S.; Barker, J.; Naylor, S. L.; Sakaguchi, A. Y.: Mouse platelet-derived growth factor receptor alpha gene is deleted in W-19H and patch mutations on chromosome 5. Proc. Nat. Acad. Sci. 88: 4811-4815, 1991.
[0011719]2307.Stenman, G.; Eriksson, A.; Claesson-Welsh, L.: Human PDGFA receptor gene maps to the same region on chromosome 4 as the KIT oncogene. Genes Chromosomes Cancer 1: 155-158, 1989.
[0011720]2308.Stephenson, D. A.; Mercola, M.; Anderson, E.; Wang, C.; Stiles, C. D.; Bowen-Pope, D. F.; Chapman, V. M.: Platelet-derived growth factor receptor alpha-subunit gene (Pdgfra) is deleted in the mouse patch (Ph) mutation. Proc. Nat. Acad. Sci. 88: 6-10, 1991.
[0011721]2309.Xie, J.; Aszterbaum, M.; Zhang, X.; Bonifas, J. M.; Zachary, C.; Epstein, E.; McCormick, F.: A role of PDGFR-alpha in basal cell carcinoma proliferation. Proc. Nat. Acad. Sci. 98: 9255-9259, 2001.
[0011722]2310.Aitman, T. J.; Cooper, L. D.; Norsworthy, P. J.; Wahid, F. N.; Gray, J. K.; Curtis, B. R.; McKeigue, P. M.; Kwiatkowski, D.; Greenwood, B. M.; Snow, R. W.; Hill, A. V.; Scott, J.: Malaria susceptibility and CD36 mutation. Nature 405: 1015-1016, 2000.
[0011723]2311.Aitman, T. J.; Glazier, A. M.; Wallace, C. A.; Cooper, L. D.; Norsworthy, P. J.; Wahid, F. N.; Al-Majali, K. M.; Trembling, P. M.; Mann, C. J.; Shoulders, C. C.; Graf, D.; St. Lezin, E.; Kurtz, T. W.; Kren, V.; Pravenec, M.; Ibrahimi, A.; Abumrad, N. A.; Stanton, L. W.; Scott, J.: Identification of Cd36 (Fat) as an insulin-resistance gene causing defective fatty acid and glucose metabolism in hypertensive rats. Nature Genet. 21: 76-83, 1999.
[0011724]2312.Aitman, T. J.; Godsland, I. F.; Farren, B.; Crook, D.; Wong, H. J.; Scott, J.: Defects of insulin action on fatty acid and carbohydrate metabolism in familial combined hyperlipidemia. Arterioscler. Thromb. Vasc. Biol. 17: 748-754, 1997.
[0011725]2313.Armesilla, A. L.; Vega, M. A.: Structural organization of the gene for human CD36 glycoprotein. J. Biol. Chem. 269: 18985-18991, 1994.
[0011726]2314.Coburn, C. T.; Knapp, F. F., Jr.; Febbraio, M.; Beets, A. L.; Silverstein, R. L.; Abumrad, N. A.: Defective uptake and utilization of long chain fatty acids in muscle and adipose tissues of CD36 knockout mice. J. Biol. Chem. 275: 32523-32529, 2000.
[0011727]2315.Curtis, B. R.; Aster, R. H.: Incidence of the Nak(a)-negative platelet phenotype in African Americans is similar to that of Asians. Transfusion 36: 331-334, 1996.
[0011728]2316.Fernandez-Ruiz, E.; Armesilla, A. L.; Sanchez-Madrid, F.; Vega, M. A.: Gene encoding the collagen type I and thrombospondin receptor CD36 is located on chromosome 7q11.2. Genomics 17: 759-761, 1993.
[0011729]2317.Gotoda, T.; Iizuka, Y.; Kato, N.; Osuga, J.; Bihoreau, M.-T.; Murakami, T.; Yamori, Y.; Shimano, H.; Ishibashi, S.; Yamada, N.: Absence of Cd36 mutation in the original spontaneously hypertensive rats with insulin resistance. (Letter) Nature Genet. 22: 226-228, 1999.
[0011730]2318.Greenwalt, D. E.; Lipsky, R. H.; Ockenhouse, C. F.; Ikeda, H.; Tandon, N. N.; Jamieson, G. A.: Membrane glycoprotein CD36: a review of its roles in adherence, signal transduction, and transfusion medicine. Blood 80: 1105-1115, 1992.
[0011731]2319.Griffin, E.; Re, A.; Hamel, N.; Fu, C.; Bush, H.; McCaffrey, T.; Asch, A. S.: A link between diabetes and atherosclerosis: glucose regulates expression of CD36 at the level of translation. Nature Med. 7: 840-846, 2001.
[0011732]2320.Groop, L. C.; Bonadonna, R. C.; DelPrato, S.; Ratheiser, K.; Zyck, K.; Ferrannini, E.; DeFronzo, R. A.: Glucose and free fatty acid metabolism in non-insulin-dependent diabetes mellitus: evidence for multiple sites of insulin resistance. J. Clin. Invest. 84: 205-213, 1989.
[0011733]2321.Berube, D.; Luu The, V.; Lachance, Y.; Gagne, R.; Labrie, F.: Assignment of the human 3 beta-hydroxysteroid dehydrogenase gene (HSDB3) to the p13 band of chromosome 1. Cytogenet. Cell Genet. 52: 199-200, 1989.
[0011734]2322.Nekrep, N.; Jabrane-Ferrat, N.; Wolf, H. M.; Eibl, M. M.; Geyer, M.; Peterlin, B. M.: Mutation in a winged-helix DNA-binding motif causes atypical bare lymphocyte syndrome. Nature Immun. 30Sept, 2002. Note: Advance Electronic Publication.
[0011735]2323.Spencer, S.; Dowbenko, D.; Cheng, J.; Li, W.; Brush, J.; Utzig, S.; Simanis, V.; Lasky, L. A.: PSTPIP: a tyrosine phosphorylated cleavage furrow-associated protein that is a substrate for PEST tyrosine phosphatase. J. Cell Biol. 138: 845-860, 1997.
[0011736]2324.Trakhtenbrot, L.; Kelman, Z.; Rotter, V.; Haran-Ghera, N.: Chromosomal mapping of the murine c-abl proto-oncogene by in situ hybridization. Leukemia 4: 136-137, 1990.
[0011737]2325.Tybulewicz, V. L. J.; Crawford, C. E.; Jackson, P. K.; Bronson, R. T.; Mulligan, R. C.: Neonatal lethality and lymphopenia in mice with a homozygous disruption of the c-abl proto-oncogene. Cell 65: 1153-1163, 1991.
[0011738]2326.Welch, P. J.; Wang, J. Y. J.: A C-terminal protein-binding domain in the retinoblastoma protein regulates nuclear c-abl tyrosine kinase in the cell cycle. Cell 75: 779-790, 1993.
[0011739]2327.Westbrook, C. A.; Le Beau, M. M.; Diaz, M. O.; Groffen, J.; Rowley, J. D.: Chromosomal localization and characterization of c-abl in the t(6;9) of acute nonlymphocytic leukemia. Proc. Nat. Acad. Sci. 82: 8742-8746, 1985.
[0011740]2328.Yuan, Z.-M.; Shioya, H.; Ishiko, T.; Sun, X.; Gu, J.; Huang, Y. Y.; Lu, H.; Kharbanda, S.; Weichselbaum, R.; Kufe, D.: p73 is regulated by tyrosine kinase c-Abl in the apoptotic response to DNA damage. Nature 399: 814-817, 1999.
[0011741]2329.Barletta, C.; Pelicci, P.-G.; Kenyon, L. C.; Smith, S. D.; Dalla-Favera, R.: Relationship between the c-myb locus and the 6q- chromosomal aberration in leukemias and lymphomas. Science 235: 1064-1067, 1987.
[0011742]2330.Dalla-Favera, R.; Franchini, G.; Martinotti, S.; Wong-Staal, F.; Gallo, R. C.; Croce, C. M.: Chromosomal assignment of the human homologues of feline sarcoma virus and avian myeloblastosis virus onc genes. Proc. Nat. Acad. Sci. 79: 4714-4717, 1982.
[0011743]2331.Franchini, G.; Wong-Staal, F.; Baluda, M. A.; Lengel, C.; Tronick, S. R.: Structural organization and expression of human DNA sequences related to the transforming gene of avian myeloblastosis virus. Proc. Nat. Acad. Sci. 80: 7385-7389, 1983.
[0011744]2332.Harper, M. E.; Franchini, G.; Love, J.; Simon, M. I.; Gallo, R. C.; Wong-Staal, F.: Chromosomal sublocalization of human c-myb and c-fes cellular onc genes. Nature 304: 169-171, 1983.
[0011745]2333.Hawkins, B. R.; Dawkins, R. L.; Hockey, A.; Houliston, J. B.; Kirk, R. L.: Evidence for linkage between HLA and malignant melanoma. Tissue Antigens 17: 540-541, 1981.
[0011746]2334.Janssen, J. W. G.; Vernole, P.; de Boer, P. A. J.; Oosterhuis, J. W.; Collard, J. G.: Sublocalization of c-myb to 6q21-q23 by in situ hybridization and c-myb expression in a human teratocarcinoma with 6q rearrangements. Cytogenet. Cell Genet. 41: 129-135, 1986.
[0011747]2335.Majello, B.; Kenyon, L. C.; Dalla-Favera, R.: Human c-myb protooncogene: nucleotide sequence of cDNA and organization of the genomic locus. Proc. Nat. Acad. Sci. 83: 9636-9640, 1986.
[0011748]2336.Manak, J. R.; Mitiku, N.; Lipsick, J. S.: Mutation of the Drosophila homologue of the Myb protooncogene causes genomic instability. Proc. Nat. Acad. Sci. 99: 7438-7443, 2002.
[0011749]2337.McBride, O. W.; Swan, D. C.; Tronick, S. R.; Gol, R.; Klimanis, D.; Moore, D. E.; Aaronson, S. A.: Regional chromosomal localization of N-ras, K-ras-1, K-ras-2 and myb oncogenes in human cells. Nucleic Acids Res. 11: 8221-8236, 1983.
[0011750]2338.Meese, E.; Meltzer, P. S.; Witkowski, C. M.; Trent, J. M.: Molecular mapping of the oncogene MYB and rearrangements in malignant melanoma. Genes Chromosomes Cancer 1: 88-94, 1989.
[0011751]2339.Pelicci, P.-G.; Lanfrancone, L.; Brathwaite, M. D.; Wolman, S. R.; Dalla-Favera, R.: Amplification of the c-myb oncogene in a case of human acute myelogenous leukemia. Science 224: 1117-1121, 1984.
[0011752]2340.Ratajczak, M. Z.; Kant, J. A.; Luger, S. M.; Hijiya, N.; Zhang, J.; Zon, G.; Gewirtz, A. M.: In vivo treatment of human leukemia in a scid mouse model with c-myb antisense oligodeoxynucleotides. Proc. Nat. Acad. Sci. 89: 11823-11827, 1992.
[0011753]2341.Rushlow, K. E.; Lautenberger, J. A.; Papas, T. S.; Baluda, M. A.; Perbal, B.; Chirikjian, J. G.; Reddy, E. P.: Nucleotide sequence of the transforming gene of avian myeloblastosis virus. Science 216: 1421-1423, 1982.
[0011754]2342.Westin, E. H.; Gallo, R. C.; Arya, S. K.; Eva, A.; Souza, L. M.; Baluda, M. A.; Aaronson, S. A.; Wong-Staal, F.: Differential expression of the amv gene in human hematopoietic cells. Proc. Nat. Acad. Sci. 79: 2194-2198, 1982.
[0011755]2343.Yokota, J.; Tsunetsugu-Yokota, Y.; Battifora, H.; Le Fevre, C.; Cline, M. J.: Alterations of myc, myb, and ras(Ha) proto-oncogenes in cancers are frequent and show clinical correlation. Science 231: 261-265, 1986.
[0011756]2344.Asada-Senju, M.; Maeda, T.; Sakata, T.; Hayashi, A.; Suzuki, T. : Molecular analysis of the transferrin gene in a patient with hereditary hypotransferrinemia. J. Hum. Genet. 47: 355-359, 2002.
[0011757]2345.Baranov, V. S.; Schwartzman, A. L.; Gorbunova, V. N.; Gaitskhoki, V. S.; Rubtsov, N. B.; Timchenko, N. A.; Neifakh, S. A.: Chromosomal localization of ceruloplasmin and transferrin genes in laboratory rats, mice and in man by hybridization with specific DNA probes. Chromosoma 96: 60-66, 1987.
[0011758]2346.Beutler, E.; Gelbart, T.; Lee, P.; Trevino, R.; Fernandez, M. A.; Fairbanks, V. F.: Molecular characterization of a case of atransferrinemia. Blood 96: 4071-4074, 2000.
[0011759]2347.Ahmed, Z. M.; Riazuddin, S.; Bernstein, S. L.; Ahmed, Z.; Khan, S.; Griffith, A. J.; Morell, R. J.; Friedman, T. B.; Riazuddin, S.; Wilcox, E. R.: Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. Am. J. Hum. Genet. 69: 25-34, 2001.
[0011760]2348.Falkenberg, M.; Tom, C.; DeYoung, M. B.; Wen, S.; Linnemann, R.; Dichek, D. A.: Increased expression of urokinase during atherosclerotic lesion development causes arterial constriction and lumen loss, and accelerates lesion growth. Proc. Nat. Acad. Sci. 99: 10665-10670, 2002.
[0011761]2349.Lijnen, H. R.; Van Hoef, B.; Nelles, L.; Holmes, W. E.; Collen, D.: Enzymatic properties of single-chain and two-chain forms of a lys(158)-to-glu(158) mutant of urokinase-type plasminogen activator. Europ. J. Biochem. 172: 185-188, 1988.
[0011762]2350.Nagai, M.; Hiramatsu, R.; Kaneda, T.; Hayasuke, N.; Arimura, H.; Nishida, M.; Suyama, T.: Molecular cloning of cDNA coding for human preprourokinase. Gene 36: 183-188, 1985.
[0011763]2351.Nelles, L.; Lijnen, H. R.; Collen, D.; Holmes, W. E.: Characterization of recombinant human single chain urokinase-type plasminogen activator mutants produced by site-specific mutagenesis of lysine 158. J. Biol. Chem. 262: 5682-5689, 1987.
[0011764]2352.Riccio, A.; Grimaldi, G.; Verde, P.; Sebastio, G.; Boast, S.; Blasi, F.: The human urokinase-plasminogen activator gene and its promoter. Nucleic Acids Res. 13: 1759-2771, 1985.
[0011765]2353.Salerno, G.; Verde, P.; Nolli, M. L.; Corti, A.; Szots, H.; Meo, T.; Johnson, J.; Bullock, S.; Cassani, G.; Blasi, F.: Monoclonal antibodies to human urokinase identify the single-chain prourokinase precursor. Proc. Nat. Acad. Sci. 81: 110-114, 1984.
[0011766]2354.Tripputi, P.; Blasi, F.; Verde, P.; Cannizzaro, L. A.; Emanuel, B. S.; Croce, C. M.: Human urokinase gene is located on the long arm of chromosome 10. Proc. Nat. Acad. Sci. 82: 4448-4452, 1985.
[0011767]2355.Deng, Z.; Johnson, K.; Engleward, B. P.; Lane, S.; Callen, D. F.; Samson, L. D.; Davisson, M. T.; Siciliano, M. J.: New regions of conserved synteny and linkage between human chromosome 16p12-p13 and mouse chromosomes 16 and 11. (Abstract) Cytogenet. Cell Genet. 68: 180 only, 1995.
[0011768]2356.Fukuoka, S.-I.; Matsuda, Y.: Assignment of the Tamm-Horsfall protein/uromodulin gene (Umod) to mouse chromosome bands 7F1-F2 and rat chromosome bands 1q36-q37 by in situ hybridization. Cytogenet. Cell Genet. 79: 241-242, 1997.
[0011769]2357.Jeanpierre, C.; Whitmore, S. A.; Austruy, E.; Cohen-Salmon, M.; Callen, D. F.; Junien, C.: Chromosomal assignment of the uromodulin gene (UMOD) to 16p13.11. Cytogenet. Cell Genet. 62: 185-187, 1993.
[0011770]2358.Muchmore, A. V.; Decker, J. M.: Uromodulin: a unique 85-kilodalton immunosuppressive glycoprotein isolated from urine of pregnant women. Science 229: 479-481, 1985.
[0011771]2359.Pennica, D.; Kohr, W. J.; Kuang, W.-J.; Glaister, D.; Aggarwal, B. B.; Chen, E. Y.; Goeddel, D. V.: Identification of human uromodulin as the Tamm-Horsfall urinary glycoprotein. Science 236: 83-88, 1987.
[0011772]2360.Pook, M. A.; Jeremiah, S.; Scheinman, S. J.; Povey, S.; Thakker, R. V.: Localization of the Tamm-Horsfall glycoprotein (uromodulin) gene to chromosome 16p12.3-16p13.11. Ann. Hum. Genet. 57: 285-290, 1993.
[0011773]2361.Tamm, I.; Horsfall, F. L., Jr.: A mucoprotein derived from human urine which reacts with influenza, mumps, and Newcastle disease viruses. J. Exp. Med. 95: 71-97, 1952.
[0011774]2362.Hoffman, H. M.; Mueller, J. L.; Broide, D. H.; Wanderer, A. A.; Kolodner, R. D.: Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nature Genet. 29: 301-305, 2001.
[0011775]2363.Davies, P. O.; Poirier, C.; Deltour, L.; Montagutelli, X.: Genetic reassignment of the insulin-1 (Ins1) gene to distal mouse chromosome 19. Genomics 21: 665-667, 1994.
[0011776]2364.Dayhoff, M. O.: Atlas of Protein Sequence and Structure. Proinsulin. Washington: National Biomedical Research Foundation (pub.) 5: 1972. Pp. D208 only.
[0011777]2365.Deltour, L.; Leduque, P.; Blume, N.; Madsen, O.; Dubois, P.; Jami, J.; Bucchini, D.: Differential expression of the two nonallelic proinsulin genes in the developing mouse embryo. Proc. Nat. Acad. Sci. 90: 527-531, 1993.
[0011778]2366.Elbein, S. C.; Gruppuso, P.; Schwartz, R.; Skolnick, M.; Permutt, M. A.: Hyperproinsulinemia in a family with a proposed defect in conversion is linked to the insulin gene. Diabetes 34: 821-824, 1985.
[0011779]2367.Gabbay, K. H.: The insulinopathies. (Editorial) New Eng. J. Med. 302: 165-167, 1980.
[0011780]2368.Gabbay, K. H.; Bergenstal, R. M.; Wolff, J.; Mako, M. E.; Rubenstein, A. H.: Familial hyperproinsulinemia: partial characterization of circulating proinsulin-like material. Proc. Nat. Acad. Sci. 76: 2881-2885, 1979.
[0011781]2369.Gabbay, K. H.; DeLuca, K.; Fisher, J. N., Jr.; Mako, M. E.; Rubenstein, A. H.: Familial hyperproinsulinemia: an autosomal dominant defect. New Eng. J. Med. 294: 911-915, 1976.
[0011782]2370.Given, B. D.; Mako, M. E.; Tager, H. S.; Baldwin, D.; Markese, J.; Rubenstein, A. H.; Olefsky, J.; Kobayashi, M.; Kolterman, O.; Poucher, R.: Diabetes due to secretion of an abnormal insulin. New Eng. J. Med. 302: 129-135, 1980.
[0011783]2371.Gruppuso, P. A.; Gorden, P.; Kahn, C. R.; Cornblath, M.; Zeller, W. P.; Schwartz, R.: Familial hyperproinsulinemia due to a proposed defect in conversion of proinsulin to insulin. New Eng. J. Med. 311: 629-634, 1984.
[0011784]2372.Haneda, M.; Kobayashi, M.; Maegawa, H.; Shigeta, Y.: Low frequency of the large insertion in the human insulin gene in Japanese. Diabetes 35: 115-118, 1986.
[0011785]2373.Haneda, M.; Polonsky, K. S.; Bergenstal, R. M.; Jaspan, J. B.; Shoelson, S. E.; Blix, P. M.; Chan, S. J.; Kwok, S. C. M.; Wishner, W. B.; Zeidler, A.; Olefsky, J. M.; Freidenberg, G.; Tager, H. S.; Steiner, D. F.; Rubenstein, A. H.: Familial hyperinsulinemia due to a structurally abnormal insulin: definition of an emerging new clinical syndrome. New Eng. J. Med. 310: 1288-1294, 1984.
[0011786]2374.Harper, M. E.; Saunders, G. F.: Chromosomal localization of human insulin gene, placental lactogen-growth hormone genes, and other single copy genes by in situ hybridization. (Abstract) Am. J. Hum. Genet. 33: 105A, 1981.
[0011787]2375.Harper, M. E.; Ullrich, A.; Saunders, G. F.: Localization of the human insulin gene to the distal end of the short arm of chromosome 11. Proc. Nat. Acad. Sci. 78: 4458-4460, 1981.
[0011788]2376.Hua, Q. X.; Shoelson, S. E.; Inouye, K.; Weiss, M. A.: Paradoxical structure and function in a mutant human insulin associated with diabetes mellitus. Proc. Nat. Acad. Sci. 90: 582-586, 1993.
[0011789]2377.Huerre, C.; Gilgenkrantz, S.; Leonard, C.; Pictet, R.; Kaplan, J. C.; Junien, C.: Regional assignment of the structural gene for insulin to 11p15.1-11p15.5 by deletion mapping. (Abstract) Cytogenet. Cell Genet. 37: 495, 1984.
[0011790]2378.Ibanez, L.; Ong, K.; Potau, N.; Marcos, M. V.; de Zegher, F.; Dunger, D.: Insulin gene variable number of tandem repeat genotype and the low birth weight, precocious pubarche, and hyperinsulinism sequence. J. Clin. Endocr. Metab. 86: 5788-5793, 2001.
[0011791]2379.Jaquet, D.; Gaboriau, A.; Czernichow, P.; Levy-Marchal, C.: Insulin resistance early in adulthood in subjects born with intrauterine growth retardation. J. Clin. Endocr. Metab. 85: 1401-1406, 2000.
[0011792]2380.Kanazawa, Y.; Hayashi, M.; Ikeuchi, M.; Hiramatsu, K.; Kosaka, K.: Familial proinsulinemia: a possible cause of abnormal glucose tolerance. (Abstract) Europ. J. Clin. Invest. 8: 327, 1978.
[0011793]2381.Leibiger, B.; Leibiger, I. B.; Moede, T.; Kemper, S.; Kulkarni, R. N.; Kahn, C. R.; de Vargas, L. M.; Berggren, P.-O.: Selective insulin signaling through A and B insulin receptors regulates transcription of insulin and glucokinase genes in pancreatic beta cells. Molec. Cell 7: 559-570, 2001.
[0011794]2382.Bucciantini, M.; Giannoni, E.; Chiti, F.; Baroni, F.; Formigli, L.; Zurdo, J.; Taddei, N.; Ramponi, G.; Dobson, C. M.; Stefani, M. : Inherent toxicity of aggregates implies a common mechanism for protein misfolding diseases. Nature 416: 507-511, 2002.
[0011795]2383.Campion, D.; Dumanchin, C.; Hannequin, D.; Dubois, B.; Belliard, S.; Puel, M.; Thomas-Anterion, C.; Michon, A.; Martin, C.; Charbonnier, F.; Raux, G.; Camuzat, A.; Penet, C.; Mesnage, V.; Martinez, M.; Clerget-Darpoux, F.; Brice, A.; Frebourg, T.: Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum. Am. J. Hum. Genet. 65: 664-670, 1999.
[0011796]2384.DeMattos, R. B.; Bales, K. R.; Cummins, D. J.; Paul, S. M.; Holtzman, D. M.: Brain to plasma amyloid-beta efflux: a measure of brain amyloid burden in a mouse model of Alzheimer's disease. Science 295: 2264-2267, 2002.
[0011797]2385.Games, D.; Adams, D.; Alessandrini, R.; Barbour, R.; Berthelette, P.; Blackwell, C.; Carr, T.; Clemens, J.; Donaldson, T.; Gillespie, F.; Guido, T.; Hagoplan, S.; and 22 others: Alzheimertype neuropathology in transgenic mice overexpressing V717F beta-amyloid precursor protein. Nature 373: 523-527, 1995.
[0011798]2386.Coon, H.; Hoff, M.; Holik, J.; Delisi, L. E.; Crowe, T.; Freedman, R.; Shields, G.; Boccio, A. M.; Lerman, M.; Gershon, E. S.; Gejman, P. V.; Leppert, M.; Byerley, W.: C to T nucleotide substitution in codon 713 of amyloid precursor protein gene not found in 86 unrelated schizophrenics from multiplex families. Am. J. Med. Genet. 48: 36-39, 1993.
[0011799]2387.Cras, P.; van Harskamp, F.; Hendriks, L.; Ceuterick, C.; van Duijn, C. M.; Stefanko, S. Z.; Hofman, A.; Kros, J. M.; Van Broeckhoven, C.; Martin, J. J.: Presenile Alzheimer dementia characterized by amyloid angiopathy and large amyloid core type senile plaques in the APP 692ala-gly mutation. Acta Neuropath. 96: 253-260, 1998.
[0011800]2388.De Jonghe, C.; Esselens, C.; Kumar-Singh, S.; Craessaerts, K.; Serneels, S.; Checler, F.; Annaert, W.; Van Broeckhoven, C.; De Strooper, B.: Pathogenic APP mutations near the gammasecretase cleavage site differentially affect A-beta secretion and APP C-terminal fragment stability. Hum. Molec. Genet. 10: 1665-1671, 2001.
[0011801]2389.De Jonghe, C.; Zehr, C.; Yager, D.; Prada, C.-M.; Younkin, S.; Hendriks, L.; Van Broeckhoven, C.; Eckman, C. B.: Flemish and Dutch mutations in amyloid beta precursor protein have different effects on amyloid beta secretion. Neurobiol. Dis. 5: 281-286, 1998.
[0011802]2390.Delabar, J.-M.; Goldgaber, D.; Lamour, Y.; Nicole, A.; Huret, J.-L.; de Grouchy, J.; Brown, P.; Gajdusek, D. C.; Sinet, P.-M.: Beta-amyloid gene duplication in Alzheimer's disease and karyotypically normal Down syndrome. Science 235: 1390-1392, 1987.
[0011803]2391.Di Luca, M.; Pastorino, L.; Bianchetti, A.; Perez, J.; Vignolo, L. A.; Lenzi, G. L.; Trabucchi, M.; Cattabeni, F.; Padovani, A.: Differential level of platelet amyloid beta precursor protein isoforms: an early marker for Alzheimer disease. Arch. Neurol. 55: 1195-1200, 1998.
[0011804]2392.Dodart, J.-C.; Bales, K. R.; Gannon, K. S.; Greene, S. J.; DeMattos, R. B.; Mathis, C.; DeLong, C. A.; Wu, S.; Wu, X.; Holtzman, D. M.; Paul, S. M.: Immunization reverses memory deficits without reducing brain A-beta burden in Alzheimer's disease model. Nature Neurosci. 5: 452-457, 2002.
[0011805]2393.Eckman, C. B.; Mehta, N. D.; Crook, R.; Perez-tur, J.; Prihar, G.; Pfeiffer, E.; Graff-Radford, N.; Hinder, P.; Yager, D.; Zenk, B.; Refolo, L. M.; Prada, C. M.; Younkin, S. G.; Hutton, M.; Hardy, J.: A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of Abeta-42(43). Hum. Molec. Genet. 6: 2087-2089, 1997.
[0011806]2394.Farlow, M.; Murrell, J.; Ghetti, B.; Unverzagt, F.; Zeldenrust, S.; Benson, M.: Clinical characteristics in a kindred with early-onset Alzheimer's disease and their linkage to a G-to-T change at position 2149 of the amyloid precursor protein gene. Neurology 44: 105-111, 1994.
[0011807]2395.Fernandez-Madrid, I.; Levy, E.; Marder, K.; Frangione, B.: Codon 618 variant of Alzheimer amyloid gene associated with inherited cerebral hemorrhage. Ann. Neurol. 30: 730-733, 1991.
[0011808]2396.Gervais, F. G.; Xu, D.; Robertson, G. S.; Vaillancourt, J. P.; Zhu, Y.; Huang, J.; LeBlanc, A.; Smith, D.; Rigby, M.; Shearman, M. S.; Clarke, E. E.; Zheng, H.; Van Der Ploeg, L. H. T.; Ruffolo, S. C.; Thornberry, N. A.; Xanthoudakis, S.; Zamboni, R. J.; Roy, S.; Nicholson, D. W.: Involvement of caspases in proteolytic cleavage of Alzheimer's amyloid-beta precursor protein and amyloidogenic A-beta peptide formation. Cell 97: 395-406, 1999.
[0011809]2397.Gotz, J.; Chen, F.; van Dorpe, J.; Nitsch, R. M.: Formation of neurofibrillary tangles in P301L tau transgenic mice induced by A-beta42 fibrils. Science 293: 1491-1495, 2001.
[0011810]2398.Grabowski, T. J.; Cho, H. S.; Vonsattel, J. P. G.; Rebeck, G. W.; Greenberg, S. M.: Novel amyloid precursor protein mutation in an Iowa family with dementia and severe cerebral amyloid angiopathy. Ann. Neurol. 49: 697-705, 2001.
[0011811]2399.Graffagnino, C.; Herbstreith, M. H.; Roses, A. D.; Alberts, M. J.: A molecular genetic study of intracerebral hemorrhage. Arch. Neurol. 51: 981-984, 1994.
[0011812]2400.Haan, J.; Lanser, J. B. K.; Zijderveld, I.; van der Does, I. G. F.; Roos, R. A. C.: Dementia in hereditary cerebral hemorrhage with amyloidosis--Dutch type. Arch. Neurol. 47: 965-967, 1990.
[0011813]2401.Haass, C.; Lemere, C. A.; Capell, A.; Citron, M.; Seubert, P.; Schenk, D.; Lannfelt, L.; Selkoe, D. J.: The Swedish mutation causes early-onset Alzheimer's disease by beta-secretase cleavage within the secretory pathway. Nature Med. 1: 1291-1296, 1995.
[0011814]2402.Hendriks, L.; van Duijn, C. M.; Cras, P.; Cruts, M.; Van Hul, W.; van Harskamp, F.; Warren, A.; McInnis, M. G.; Antonarakis, S. E.; Martin, J.-J.; Hofman, A.; Van Broeckhoven, C.: Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene. Nature Genet. 1: 218-221, 1992.
[0011815]2403.Borrow, J.; Shearman, A. M.; Stanton, V. P., Jr.; Becher, R.; Collins, T.; Williams, A. J.; Dube, I.; Katz, F.; Kwong, Y. L.; Morris, C.; Ohyashiki, K.; Toyama, K.; Rowley, J.; Housman, D. E.: The t(7;11)(p15;p15) translocation in acute myeloid leukaemia fuses the genes for nucleoporin NUP98 and class I homeoprotein HOXA9. Nature Genet. 12: 159-167, 1996.
[0011816]2404.Eisen, A.; Weber, B. L.: Prophylactic mastectomy for women with BRCA1 and BRCA2 mutations--facts and controversy. (Editorial) New Eng. J. Med. 345: 207-208, 2001.
[0011817]2405.Fodor, F. H.; Weston, A.; Bleiweiss, I. J.; McCurdy, L. D.; Walsh, M. M.; Tartter, P. I.; Brower, S. T.; Eng, C. M.: Frequency and carrier risk associated with common BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer patients. Am. J. Hum. Genet. 63: 45-51, 1998.
[0011818]2406.Ford, D.; Easton, D. F.; Stratton, M.; Narod, S.; Goldgar, D.; Devilee, P.; Bishop, D. T.; Weber, B.; Lenoir, G.; Chang-Claude, J.; Sobol, H.; Teare, M. D.; and 27 others: Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. Am. J. Hum. Genet. 62: 676-689, 1998.
[0011819]2407.Ford, J. M.; Hanawalt, P. C.: Li-Fraumeni syndrome fibroblasts homozygous for p53 mutations are deficient in global DNA repair but exhibit normal transcription-coupled repair and enhanced UV resistance. Proc. Nat. Acad. Sci. 92: 8876-8880, 1995.
[0011820]2408.Ford, J. M.; Hanawalt, P. C.: Expression of wild-type p53 is required for efficient global genomic nucleotide excision repair in UV-irradiated human fibroblasts. J. Biol. Chem. 272: 28073-28080, 1997.
[0011821]2409.Berry, R.; Stevens, T. J.; Walter, N. A. R.; Wilcox, A. S.; Rubano, T.; Hopkins, J. A.; Weber, J.; Goold, R.; Soares, M. B.; Sikela, J. M.: Gene-based sequence-tagged-sites (STSs) as the basis for a human gene map. Nature Genet. 10: 415-423, 1995.
[0011822]2410.Renouf, S.; Beullens, M.; Wera, S.; Van Eynde, A.; Sikela, J.; Stalmans, W.; Bollen, M.: Molecular cloning of a human polypeptide related to yeast sds22, a regulator of protein phosphatase-1. FEBS Lett. 375: 75-78, 1995.
[0011823]2411.Palmiter, R. D.; Cole, T. B.; Quaife, C. J.; Findley, S. D.: ZnT-3, a putative transporter of zinc into synaptic vesicles. Proc. Nat. Acad. Sci. 93: 14934-14939, 1996.
[0011824]2412.Hatzfeld, M.; Kristjansson, G. I.; Plessmann, U.; Weber, K.: Band 6 protein, a major constituent of desmosomes from stratified epithelia, is a novel member of the armadillo multigene family. J. Cell Sci. 107: 2259-2270, 1994.
[0011825]2413.Heid, H. W.; Schmidt, A.; Zimbelmann, R.; Schafer, S.; Winter-Simanowski, S.; Stumpp, S.; Keith, M.; Figge, U.; Schnolzer, M.; Franke, W. W. : Cell type-specific desmosomal plaque proteins of the plakoglobin family: plakophilin 1 (band 6 protein). Differentiation 58: 113-131, 1994.
[0011826]2414.McGrath, J. A.; McMillan, J. R.; Shemanko, C. S.; Runswick, S. K.; Leigh, I. M.; Lane, E. B.; Garrod, D. R.; Eady, R. A. J.: Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. Nature Genet. 17: 240-244, 1997.
[0011827]2415.Schmidt, A.; Langbein, L.; Pratzel, S.; Rode, M.; Rackwitz, H.-R.; Franke, W. W.: Plakophilin 3--a novel cell-type-specific desmosomal plaque protein. Differentiation 64: 291-306, 1999.
[0011828]2416.Schmidt, A.; Langbein, L.; Rode, M.; Pratzel, S.; Zimbelmann, R.; Franke, W. W.: Plakophilins 1a and 1b: widespread nuclear proteins recruited in specific epithelial cells as desmosomal plaque components. Cell Tissue Res. 290: 481-499, 1997.
[0011829]2417.Whittock, N. V.; Haftek, M.; Angoulvant, N.; Wolf, F.; Perrot, H.; Eady, R. A. J.; McGrath, J. A.: Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome. J. Invest. Derm. 115: 368-374, 2000.
[0011830]2418.Rosenberg, H. F.; Dyer, K. D.: Molecular cloning and characterization of a novel human ribonuclease (RNase k6): increasing diversity in the enlarging ribonuclease gene family. Nucleic Acids Res. 24: 3507-3513, 1996.
[0011831]2419.Aburatani, H.; Hippo, Y.; Ishida, T.; Takashima, R.; Matsuba, C.; Kodama, T.; Takao, M.; Yasui, A.; Yamamoto, K.; Asano, M.; Fukasawa, K.; Yoshinari, T.; Inoue, H.; Ohtsuka, E.; Nishimura, S.: Cloning and characterization of mammalian 8-hydroxyguanine-specific DNA glycosylase/apurinic, apyrimidinic lyase, a functional mutM homologue. Cancer Res. 57: 2151-2156, 1997.
[0011832]2420.Arai, K.; Morishita, K.; Shinmura, K.; Kohno, T.; Kim, S.-R.; Nohmi, T.; Taniwaki, M.; Ohwada, S.; Yokota, J.: Cloning of a human homolog of the yeast OGG1 gene that is involved in the repair of oxidative DNA damage. Oncogene 14: 2857-2861, 1997.
[0011833]2421.Audebert, M.; Chevillard, S.; Levalois, C.; Gyapay, G.; Vieillefond, A.; Klijanienko, J.; Vielh, P.; El Naggar, A. K.; Oudard, S.; Boiteux, S.; Radicella, J. P.: Alterations of the DNA repair gene OGG1 in human clear cell carcinomas of the kidney. Cancer Res. 60: 4740-4744, 2000.
[0011834]2422.Bjoras, M.; Luna, L.; Johnsen, B.; Hoff, E.; Haug, T.; Rognes, T.; Seeberg, E.: Opposite base-dependent reactions of a human base excision repair enzyme on DNA containing 7,8-dihydro-8-oxoguanine and abasic sites. EMBO J. 16: 6314-6322, 1997.
[0011835]2423.Ishida, T.; Hippo, Y.; Nakahori, Y.; Matsushita, I.; Kodama, T.; Nishimura, S.; Aburatani, H.: Structure and chromosome location of human OGG1. Cytogenet. Cell Genet. 85: 232-236, 1999.
[0011836]2424.Kohno, T.; Shinmura, K.; Tosaka, M.; Tani, M.; Kim, S.-R.; Sugimura, H.; Nohmi, T.; Kasai, H.; Yokota, J.: Genetic polymorphisms and alternative splicing of the hOGG1 gene, that is involved in the repair of 8-hydroxyguanine in damaged DNA. Oncogene 16: 3219-3225, 1998.
[0011837]2425.Kuo, F. C.; Sklar, J.: Augmented expression of a human gene for 8-oxoguanine DNA glycosylase (MutM) in B lymphocytes of the dark zone in lymph node germinal centers. J. Exp. Med. 186: 1547-1556, 1997.
[0011838]2426.Lu, R.; Nash, H. M.; Verdine, G. L.: A mammalian DNA repair enzyme that excises oxidatively damaged guanines maps to a locus frequently lost in lung cancer. Curr. Biol. 7: 397-407, 1997.
[0011839]2427.Radicella, J. P.; Dherin, C.; Desmaze, C.; Fox, M. S.; Boiteux, S.: Cloning and characterization of hOGG1, a human homolog of the OGG1 gene of Saccharomyces cerevisiae. Proc. Nat. Acad. Sci. 94: 8010-8015, 1997.
[0011840]2428.Guo, S.; Yamaguchi, Y.; Schilbach, S.; Wada, T.; Lee, J.; Goddard, A.; French, D.; Handa, H.; Rosenthal, A.: A regulator of transcriptional elongation controls vertebrate neuronal development. Nature 408: 366-369, 2000.
[0011841]2429.DiLeone, R. J.; King, J. A.; Storm, E. E.; Copeland, N. G.; Jenkins, N. A.; Kingsley, D. M.: The Bmp8 gene is expressed in developing skeletal tissue and maps near the achondroplasia locus on mouse chromosome 4. Genomics 40: 196-198, 1997.
[0011842]2430.Burtis, K. C.; Baker, B. S.: Drosophila doublesex gene controls somatic sexual differentiation by producing alternatively spliced mRNAs encoding related sex-specific polypeptides. Cell 56: 997-1010, 1989.
[0011843]2431.Moog-Lutz, C.; Bouillet, P.; Regnier, C. H.; Tomasetto, C.; Mattei, M. G.; Chenard, M. P.; Anglard, P.; Rio, M. C.; Basset, P.: Comparative expression of the psoriasin (S100A7) and S100C genes in breast carcinoma and co-localization to human chromosome 1q21-q22. Int. J. Cancer 63: 297-303, 1995.
[0011844]2432.Tanaka, M.; Adzuma, K.; Iwami, M.; Yoshimoto, K.; Monden, Y.; Itakura, M.: Human calgizzarin: one colorectal cancer-related gene selected by a large scale random cDNA sequencing and northern blot analysis. Cancer Lett. 89: 195-200, 1995.
[0011845]2433.Todoroki, H.; Kobayashi, R.; Watanabe, M.; Minami, H.; Hidaka, H.: Purification, characterization, and partial sequence analysis of a newly identified EF-hand type 13-kDa Ca(2+)-binding protein from smooth muscle and non-muscle tissues. J. Biol. Chem. 266: 18668-18673, 1991.
[0011846]2434.Watanabe, M.; Ando, Y.; Todoroki, H.; Minami, H.; Hidaka, H.: Molecular cloning and sequencing of a cDNA clone encoding a new calcium binding protein, named calgizzarin, from rabbit lung. Biochem. Biophys. Res. Commun. 181: 644-649, 1991.
[0011847]2435.Kimura, S. H.; Tsuruga, H.; Yabuta, N.; Endo, Y.; Nojima, H.: Structure, expression, and chromosomal localization of human GAK. Genomics 44: 179-187, 1997.
[0011848]2436.Chieffo, C.; Garvey, N.; Gong, W.; Roe, B.; Zhang, G.; Silver, L.; Emanuel, B. S.; Budarf, M. L.: Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene. Genomics 43: 267-277, 1997.
[0011849]2437.Bensch, K. W.; Raida, M.; Magert, H. J.; Schulz-Knappe, P.; Forssmann, W. G.: hBD-1: a novel beta-defensin from human plasma. FEBS Lett. 368: 331-335, 1995.
[0011850]2438.Stachora, A. A.; Schafer, R. E.; Pohlmeier, M.; Maier, G.; Ponstingl, H.: Human Supt5h protein, a putative modulator of chromatin structure, is reversibly phosphorylated in mitosis. FEBS Lett. 409: 74-78, 1997.
[0011851]2439.Lafreniere, R. G.; Kibar, Z.; Rochefort, D. L.; Han, F.-Y.; Fon, E. A.; Dube, M.-P.; Kang, X.; Baird, S.; Korneluk, R. G.; Rommens, J. M.; Rouleau, G. A.: Genomic structure of the human GT334 (EHOC-1) gene mapping to 21q22.3. Gene 198: 313-321, 1997.
[0011852]2440.Nagamine, K.; Kudoh, J.; Kawasaki, K.; Minoshima, S.; Asakawa, S.; Ito, F.; Shimizu, N.: Genomic organization and complete nucleotide sequence of the TMEM1 gene on human chromosome 21q22.3. Biochem. Biophys. Res. Commun. 235: 185-190, 1997.
[0011853]2441.Yamakawa, K.; Mitchell, S.; Hubert, R.; Chen, X.-N.; Colbern, S.; Huo, Y.-K.; Gadomski, C.; Kim, U.-J.; Korenberg, J. R.: Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3. Hum. Molec. Genet. 4: 709-716, 1995.
[0011854]2442.Bell, S. M.; Shaw, M.; Jou, Y.-S.; Myers, R. M.; Knowles, M. A. : Identification and characterization of the human homologue of SH3BP2, an SH3 binding domain protein within a common region of deletion at 4p16.3 involved in bladder cancer. Genomics 44: 163-170, 1997.
[0011855]2443.Gosset, P.; Ghezala, G. A.; Korn, B.; Yaspo, M.-L.; Poutska, A.; Lehrach, H.; Sinet, P.-M.; Creau, N.: A new inward rectifier potassium channel gene (KCNJ15) localized on chromosome 21 in the Down syndrome chromosome region 1 (DCR1). Genomics 44: 237-241, 1997.
[0011856]2444.Williams, J. B.; Lanahan, A. A.: A mammalian delayed-early response gene encodes HNP36, a novel, conserved nucleolar protein. Biochem. Biophys. Res. Commun. 213: 325-333, 1995.
[0011857]2445.Williams, J. B.; Rexer, B.; Sirripurapu, S.; John, S.; Goldstein, R.; Phillips, J. A., III; Haley, L. L.; Sait, S. N. J.; Shows, T. B.; Smith, C. M.; Gerhard, D. S.: The human HNP36 gene is localized to chromosome 11q13 and produces alternative transcripts that are not mutated in multiple endocrine neoplasia, type 1 (MEN I) syndrome. Genomics 42: 325-330, 1997.
[0011858]2446.Loeffen, J.; van den Heuvel, L.; Smeets, R.; Triepels, R.; Sengers, R.; Trijbels, F.; Smeitink, J.: cDNA sequence and chromosomal localization of the remaining three human nuclear encoded iron sulphur protein (IP) subunits of complex I: the human IP fraction is completed. Biochem. Biophys. Res. Commun. 247: 751-758, 1998.
[0011859]2447.Procaccio, V.; de Sury, R.; Martinez, P.; Depetris, D.; Rabilloud, T.; Soularue, P.; Lunardi, J.; Issartel, J.-P.: Mapping to 1q23 of the human gene (NDUFS2) encoding the 49-kDa subunit of the mitochondrial respiratory complex I and immunodetection of the mature protein in mitochondria. Mammalian Genome 9: 482-484, 1998.
[0011860]2448.Schenker, T.; Lach, C.; Kessler, B.; Calderara, S.; Trueb, B.: A novel GTP-binding protein which is selectively repressed in SV40 transformed fibroblasts. J. Biol. Chem. 269: 25447-25453, 1994.
[0011861]2449.Daigo, Y.; Suzuki, K.; Maruyama, O.; Miyoshi, Y.; Yasuda, T.; Kabuto, T.; Imaoka, S.; Fujiwara, T.; Takahashi, E.; Fujino, M. A.; Nakamura, Y.: Isolation, mapping, and mutation analysis of a human cDNA homologous to the doc-1 gene of the Chinese hamster, a candidate tumor suppressor for oral cancer. Genes Chromosomes Cancer 20: 204-207, 1997.
[0011862]2450.Todd, R.; McBride, J.; Tsuji, T.; Donoff, R. B.; Nagai, M.; Chou, M. Y.; Chiang, T.; Wong, D. T. W.: Deleted in oral cancer-1 (doc-1), a novel oral tumor suppressor gene. FASEB J. 1362-1370, 1995.
[0011863]2451.Yamagata, T.; Tsuru, T.; Momoi, M. Y.; Suwa, K.; Nozaki, Y.; Mukasa, T.; Ohashi, H.; Fukushima, Y.; Momoi, T.: Genome organization of human 48-kDa oligosaccharyltransferase (DDOST). Genomics 45: 535-540, 1997.
[0011864]2452.Aral, B.; de Saint Basile, G.; Al-Garawi, S.; Kamoun, P.; Ceballos-Picot, I.: Novel nonsense mutation in the hypoxanthine guanine phosphoribosyltransferase gene and nonrandom Xinactivation causing Lesch-Nyhan syndrome in a female patient. Hum. Mutat. 7: 52-58, 1996.
[0011865]2453.Benke, P. J.; Hebert, A.; Herrick, N.: In vitro effects of magnesium ions on mutant cells from patients with the Lesch-Nyhan syndrome. New Eng. J. Med. 289: 446-450, 1973.
[0011866]2454.Benke, P. J.; Herrick, N.; Hebert, A.: Hypoxanthine-guanine phosphoribosyltransferase variant associated with accelerated purine synthesis. J. Clin. Invest. 52: 2234-2240, 1973.
[0011867]2455.Kelley, W. N.; Greene, M. L.; Rosenbloom, F. M.; Henderson, J. F.; Seegmiller, J. E.: Hypoxanthine-guanine phosphoribosyltransferase deficiency in gout. Ann. Intern. Med. 70: 155-206, 1969.
[0011868]2456.Ballabio, A.; Parenti, G.; Tippett, P.; Mondello, C.; Di Maio, S.; Tenore, A.; Andria, G.: X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome. Hum. Genet. 72: 237-240, 1986.
[0011869]2457.Caplen, N. J.; Taylor, J. P.; Statham, V. S.; Tanaka, F.; Fire, A.; Morgan, R. A.: Rescue of polyglutamine-mediated cytotoxicity by double-stranded RNA-mediated RNA interference. Hum. Molec. Genet. 11: 175-184, 2002.
[0011870]2458.La Spada, A. R.; Wilson, E. M.; Lubahn, D. B.; Harding, A. E.; Fischbeck, K. H.: Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352: 77-79, 1991.
[0011871]2459.Rosenberg, A. L.; Bergstrom, L.; Troost, B. T.; Bartholomew, B. A.: Hyperuricemia and neurologic deficits: a family study. New Eng. J. Med. 282: 992-997, 1970.
[0011872]2460.Simmonds, H. A.; Webster, D. R.; Wilson, J.; Lingham, S.: An X-linked syndrome characterised by hyperuricaemia, deafness, and neurodevelopmental abnormalities. Lancet II: 68-70, 1982.
[0011873]2461.Sperling, O.; Eliam, G.; Persky-Brosh, S.; De Vries, A.: Accelerated erythrocyte 5-phosphoribosyl-1-pyrophosphate synthesis: a familial abnormality associated with excessive uric acid production and gout. Biochem. Med. 6: 310-316, 1972.
[0011874]2462.Sperling, O.; Persky-Brosh, S.; Boer, P.; De Vries, A.: Human erythrocyte phosphoribosylpyrophosphate synthetase mutationally altered in regulatory properties. Biochem. Med. 7: 389-395, 1973.
[0011875]2463.Takeuchi, F.; Hanaoka, F.; Yano, E.; Yamada, M.; Horiuchi, Y.; Akaoka, I.: The mode of genetic transmission of a gouty family with increased phosphoribosylpyrophosphate synthetase activity. Hum. Genet. 58: 322-330, 1981.
[0011876]2464.Wada, Y.; Nishimura, Y.; Tanabu, M.; Yoshimura, Y.; Iinuma, K.; Yoshida, T.; Arakawa, T.: Hypouricemic, mentally retarded infant with a defect of 5-phosphoribosyl-1-pyrophosphate synthetase of erythrocytes. Tohoku J. Exp. Med. 113: 149-157, 1974.
[0011877]2465.Yen, R. C. K.; Adams, W. B.; Lazar, C.; Becker, M. A.: Evidence for X-linkage of human phosphoribosylpyrophosphate synthetase. Proc. Nat. Acad. Sci. 75: 482-485, 1978.
[0011878]2466.Zoref, E.; De Vries, A.; Sperling, O.: Mutant feedback-resistant phosphoribosylpyrophosphate synthetase associated with purine overproduction and gout: phosphoribosylpyrophosphate and purine metabolism in cultured fibroblasts. J. Clin. Invest. 56: 1093-1099, 1975.
[0011879]2467.Zoref, E.; De Vries, A.; Sperling, O.: Metabolic cooperation between human fibroblasts with normal and with mutant superactive phosphoribosylpyrophosphate synthetase. Nature 260: 786-788, 1976.
[0011880]2468.Zoref, E.; De Vries, A.; Sperling, O.: Evidence for X-linkage of phosphoribosylpyrophosphate synthetase in man: studies with cultured fibroblasts from a gouty family with mutant feedback-resistant enzyme. Hum. Hered. 27: 73-80, 1977.
[0011881]2469.Iizasa, T.; Taira, M.; Shimada, H.; Ishijima, S.; Tatibana, M. : Molecular cloning and sequencing of human cDNA for phosphoribosyl pyrophosphate synthetase subunit II. FEBS Lett. 244: 47-50, 1989.
[0011882]2470.Taira, M.; Ishijima, S.; Kita, K.; Yamada, K.; Iizasa, T.; Tatibana, M.: Nucleotide and deduced amino acid sequences of two distinct cDNAs for rat phosphoribosylpyrophosphate synthetase. J. Biol. Chem. 262: 14867-14870, 1987.
[0011883]2471.Taira, M.; Kudoh, J.; Minoshima, S.; Iizasa, T.; Shimada, H.; Shimizu, Y.; Tatibana, M.; Shimizu, N.: Localization of human phosphoribosylpyrophosphate synthetase subunit I and II genes (PRPS1 and PRPS2) to different regions of the X chromosome and assignment of two PRPS1-related genes to autosomes. Somat. Cell Molec. Genet. 15: 29-37, 1989.
[0011884]2472.Wang, J. C.; Passage, M. B.; Ellison, J.; Becker, M. A.; Yen, P. H.; Shapiro, L. J.; Mohandas, T. K.: Physical mapping of loci in the distal half of the short arm of the human X chromosome: implications for the spreading of X-chromosome inactivation. Somat. Cell Molec. Genet. 18: 195-200, 1992.
[0011885]2473.Barnard, P. J.; Derry, J. M. J.; Ryder-Cook, A. S.; Zander, N. F.; Kilimann, M. W.: Mapping of the phosphorylase kinase alpha subunit gene on the mouse X chromosome. Cytogenet. Cell Genet. 53: 91-94, 1990.
[0011886]2474.Bruno, C.; Manfredi, G.; Andreu, A. L.; Shanske, S.; Krishna, S.; Ilse, W. K.; DiMauro, S.: A splice junction mutation in the alpha-M gene of phosphorylase kinase in a patient with myopathy. Biochem. Biophys. Res. Commun. 249: 648-651, 1998.
[0011887]2475.Clemens, P. R.; Yamamoto, M.; Engel, A. G.: Adult phosphorylase b kinase deficiency. Ann. Neurol. 28: 529-538, 1990.
[0011888]2476.Wehner, M.; Clemens, P. R.; Engel, A. G.; Kilimann, M. W.: Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit. Hum. Molec. Genet. 3: 1983-1987, 1994.
[0011889]2477.Wilkinson, D. A.; Tonin, P.; Shanske, S.; Lombes, A.; Carlson, G. M.; DiMauro, S.: Clinical and biochemical features of 10 adult patients with muscle phosphorylase kinase deficiency. Neurology 44: 461-466, 1994.
[0011890]2478.Sullivan, J. L.; Byron, K. S.; Brewster, F. E.; Baker, S. M.; Ochs, H. D.: X-linked lymphoproliferative syndrome: natural history of the immunodeficiency. J. Clin. Invest. 71: 1765-1778, 1983.
[0011891]2479.Sullivan, J. L.; Byron, K. S.; Brewster, F. E.; Purtilo, D. T. : Deficient natural killer cell activity in X-linked lymphoproliferative syndrome. Science 210: 543-545, 1980.
[0011892]2480.Sumazaki, R.; Kanegane, H.; Osaki, M.; Fukushima, T.; Tsuchida, M.; Matsukura, H.; Shinozaki, K.; Kimura, H.; Matsui, A.; Miyawaki, T.: SH2D1A mutations in Japanese males with severe Epstein-Barr virus-associated illnesses. Blood 98: 1268-1270, 2001.
[0011893]2481.Sumegi, J.; Gross, T. G.; Seemayer, T. A.: The molecular genetics of X-linked lymphoproliferative (Duncan's) disease. Cancer J. Sci. Am. 5: 57-62, 1999.
[0011894]2482.Sumegi, J.; Huang, D.; Lanyi, A.; Davis, J. D.; Seemayer, T. A.; Maeda, A.; Klein, G.; Seri, M.; Wakiguchi, H.; Purtilo, D. T.; Gross, T. G.: Correlation of mutations of the SH2D1A gene and Epstein-Barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease. Blood 96: 3118-3125, 2000.
[0011895]2483.Xiang, X.; Benson, K. F.; Chada, K.: Mini-mouse: disruption of the pygmy locus in a transgenic insertional mutant. Science 247: 967-969, 1990.
[0011896]2484.Scriver, C. R.: Vitamin B6 deficiency and dependency in man. Am. J. Dis. Child. 113: 109-114, 1967.
[0011897]2485.Scriver, C. R.; Hutchison, J. H.: The vitamin B6 deficiency syndrome in human infancy: biochemical and clinical observations. Pediatrics 31: 240-250, 1963.
[0011898]2486.Wolpert, S. M.; Barnes, P. D.: MRI in Pediatric Neuroradiology. Mosby Year Book, St. Louis , 1992.
[0011899]2487.Matsumoto, M.; Saito, T.; Takasaki, J.; Kamohara, M.; Sugimoto, T.; Kobayashi, M.; Tadokoro, M.; Matsumoto, S.; Ohishi, T.; Furuichi, K.: An evolutionarily conserved G-protein coupled receptor family, SREB, expressed in the central nervous system. Biochem. Biophys. Res. Commun. 272: 576-582, 2000.
[0011900]2488.Aagaard, L.; Laible, G.; Selenko, P.; Schmid, M.; Dorn, R.; Schotta, G.; Kuhfittig, S.; Wolf, A.; Lebersorger, A.; Singh, P. B.; Reuter, G.; Jenuwein, T.: Functional mammalian homologues of the Drosophila PEV-modifier Su(var)3-9 encode centromere-associated proteins which complex with the heterochromatin component M31. EMBO J. 18: 1923-1938, 1999.
[0011901]2489.Bannister, A. J.; Zegerman, P.; Partridge, J. F.; Miska, E. A.; Thomas, J. O.; Allshire, R. C.; Kouzarides, T.: Selective recognition of methylated lysine 9 on histone H3 by the HP1 chromo domain. Nature 410: 120-124, 2001.
[0011902]2490.Fabrizi, G. M.; Rizzuto, R.; Nakase, H.; Mita, S.; Kadenbach, B.; Schon, E. A.: Sequence of a cDNA specifying subunit VIa of human cytochrome c oxidase. Nucleic Acids Res. 17: 6409 only, 1989.
[0011903]2491.Hey, Y.; Hoggard, N.; Burt, E.; James, L. A.; Varley, J. M.: Assignment of COX6A1 to 6p21 and a pseudogene (COX6A1P) to 1p31.1 by in situ hybridization and somatic cell hybrids. Cytogenet. Cell Genet. 77: 167-168, 1997.
[0011904]2492.Connors, T. D.; Van Raay, T. J.; Petry, L. R.; Klinger, K. W.; Landes, G. M.; Burn, T. C.: The cloning of a human ABC gene (ABC3) mapping to chromosome 16p13.3. Genomics 39: 231-234, 1997.
[0011905]2493.Klugbauer, N.; Hofmann, F.: Primary structure of a novel ABC transporter with a chromosomal localization on the band encoding the multidrug resistance-associated protein. FEBS Lett. 391: 61-65, 1996.
[0011906]2494.Wu, Y.-C.; Horvitz, H. R.: The C. elegans cell corpse engulfment gene ced-7 encodes a protein similar to ABC transporters. Cell 93: 951-960, 1998.
[0011907]2495.Ahn, D.; Kourakis, M. J.; Rohde, L. A.; Silver, L. M.; Ho, R. K. : T-box gene tbx5 is essential for formation of the pectoral limb bud. Nature 417: 754-758, 2002.
[0011908]2496.Bruneau, B. G.; Nemer, G.; Schmitt, J. P.; Charron, F.; Robitaille, L.; Caron, S.; Conner, D. A.; Gessler, M.; Nemer, M.; Seidman, C. E.; Seidman, J. G.: A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease. Cell 106: 709-721, 2001.
[0011909]2497.Ghosh, T. K.; Packham, E. A.; Bonser, A. J.; Robinson, T. E.; Cross, S. J.; Brook, J. D.: Characterization of the TBX5 binding site and analysis of mutations that cause Holt-Oram syndrome. Hum. Molec. Genet. 10: 1983-1994, 2001.
[0011910]2498.Koshiba-Takeuchi, K.; Takeuchi, J. K.; Matsumoto, K.; Momose, T.; Uno, K.; Hoepker, V.; Ogura, K.; Takahashi, N.; Nakamura, H.; Yasuda, K.; Ogura, T.: Tbx5 and the retinotectum projection. Science 287: 134-137, 2000.
[0011911]2499.Logan, M.; Tabin, C. J.: Role of Pitx1 upstream of Tbx4 in specification of hindlimb identity. Science 283: 1736-1739, 1999.
[0011912]2500.McCormick, M. B.; Tamimi, R. M.; Snider, L.; Asakura, A.; Bergstrom, D.; Tapscott, S. J.: neuroD2 and neuroD3: distinct expression patterns and transcriptional activation potentials within the neuroD gene family. Molec. Cell. Biol. 16: 5792-5800, 1996.
[0011913]2501.Tamimi, R. M.; Steingrimsson, E.; Montgomery-Dyer, K.; Copeland, N. G.; Jenkins, N. A.; Tapscott, S. J.: NEUROD2 and NEUROD3 genes map to human chromosomes 17q12 and 5q23-q31 and mouse chromosomes 11 and 13, respectively. Genomics 40: 355-357, 1997.
[0011914]2502.Birck, A.; Ahrenkiel, V.; Zeuthen, J.; Hou-Jensen, K.; Guldberg, P.: Mutation and allelic loss of the PTEN/MMAC1 gene in primary and metastatic melanoma biopsies. J. Invest. Derm. 114: 277-280, 2000. Di Cristofano and Pandolfi (2000) reviewed the multiple roles of PTEN in tumor suppression.
[0011915]2503.Bonneau, D.; Longy, M.: Mutations of the human PTEN gene. Hum. Mutat. 16: 109-122, 2000.
[0011916]2504.Cairns, P.; Okami, K.; Halachmi, S.; Halachmi, N.; Esteller, M.; Herman, J. G.; Jen, J.; Isaacs, W. B.; Bova, G. S.; Sidransky, D. : Frequent inactivation of PTEN/MMAC1 in primary prostate cancer. Cancer Res. 57: 4997-5000, 1997.
[0011917]2505.Cantley, L. C.; Neel, B. G.: New insights into tumor suppression: PTEN suppresses tumor formation by restraining the phosphoinositide 3-kinase/AKT pathway. Proc. Nat. Acad. Sci. 96: 4240-4245, 1999.
[0011918]2506.Carethers, J. M.; Furnari, F. B.; Zigman, A. F.; Lavine, J. E.; Jones, M. C.; Graham, G. E.; Teebi, A. S.; Huang, H.-J. S.; Ha, H. T.; Chauhan, D. P.; Chang, C. L.; Cavenee, W. K.; Boland, C. R.: Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome. Cancer. Res. 58: 2724-2726, 1998.
[0011919]2507.Celebi, J. T.; Shendrik, I.; Silvers, D. N.; Peacocke, M.: Identification of PTEN mutations in metastatic melanoma specimens. J. Med. Genet. 37: 653-657, 2000.
[0011920]2508.Dahia, P. L. M.; FitzGerald, M. G.; Zhang, X.; Marsh, D. J.; Zheng, Z.; Pietsch, T.; von Deimling, A.; Haluska, F. G.; Haber, D. A.; Eng, C.: A highly conserved processed PTEN pseudogene is located on chromosome band 9p21. Oncogene 16: 2403-2406, 1998.
[0011921]2509.De Vivo, I.; Gertig, D. M.; Nagase, S.; Hankinson, S. E.; O'Brien, R.; Speizer, F. E.; Parsons, R.; Hunter, D. J.: Novel germline mutations in the PTEN tumour suppressor gene found in women with multiple cancers. J. Med. Genet. 37: 336-341, 2000.
[0011922]2510.Di Cristofano, A.; De Acetis, M.; Koff, A.; Cordon-Cardo, C.; Pandolfi, P. P.: Pten and p27(KIP1) cooperate in prostate cancer tumor suppression in the mouse. Nature Genet. 27: 222-224, 2001.
[0011923]2511.Di Cristofano, A.; Kotsi, P.; Peng, Y. F.; Cordon-Cardo, C.; Elkon, K. B.; Pandolfi, P. P.: Impaired Fas response and autoimmunity in Pten +/- mice. Science 285: 2122-2125, 1999.
[0011924]2512.Di Cristofano, A.; Pandolfi, P. P.: The multiple roles of PTEN in tumor suppression. Cell 100: 387-390, 2000.
[0011925]2513.Di Cristofano, A.; Pesce, B.; Cordon-Cardo, C.; Pandolfi, P. P. : Pten is essential for embryonic development and tumour suppression. Nature Genet. 19: 348-355, 1998.
[0011926]2514.Hirota, T.; Morisaki, T.; Nishiyama, Y.; Marumoto, T.; Tada, K.; Hara, T.; Masuko, N.; Inagaki, M.; Hatakeyama, K.; Saya, H.: Zyxin, a regulator of actin filament assembly, targets the mitotic apparatus by interacting with h-warts/LATS1 tumor suppressor. J. Cell Biol. 149: 1073-1086, 2000.
[0011927]2515.Sobek-Klocke, I.; Disque-Kochem, C.; Ronsiek, M.; Klocke, R.; Jockusch, H.; Breuning, A.; Ponstingl, H.; Rojas, K.; Overhauser, J.; Eichenlaub-Ritter, U.: The human gene ZFP161 on 18p11.21-pter encodes a putative c-myc repressor and is homologous to murine Zfp161 (chr 17) and Zfp161-rs1 (X chr). Genomics 43: 156-164, 1997. Note: Erratum: Genomics 45: 633 only, 1997.
[0011928]2516.Sugiura, K.; Muro, Y.; Nagai, Y.; Kamimoto, T.; Wakabayashi, T.; Ohashi, M.; Hagiwara, M.: Expression cloning and intracellular localization of a human ZF5 homologue. Biochim. Biophys. Acta 1352: 23-26, 1997.
[0011929]2517.Engelen, J. J. M.; Esterling, L. E.; Albrechts, J. C. M.; Detera-Wadleigh, S. D.; van Eys, G. J. J. M.: Assignment of the human gene for smoothelin (SMTN) to chromosome 22q12 by fluorescence in situ hybridization and radiation hybrid mapping. Genomics 43: 245-247, 1997.
[0011930]2518.Rensen, S.; Merkx, G.; Doevendans, P.; Geurts van Kessel, A.; van Eys, G.: Structure and chromosome location of Smtn, the mouse smoothelin gene. Cytogenet. Cell Genet. 89: 225-229, 2000.
[0011931]2519.van der Loop, F. T. L.; Schaart, G.; Timmer, E. D. J.; Ramaekers, F. C. S.; van Eys, G. J. J. M.: Smoothelin, a novel cytoskeletal protein specific for smooth muscle cells. J. Cell Biol. 134: 401-411, 1996.
[0011932]2520.Zucman-Rossi, J.; Legoix, P.; Thomas, G.: Identification of new members of the Gas2 and Ras families in the 22q12 chromosome region. Genomics 38: 247-254, 1996.
[0011933]2521.Frank, D.; Fortino, W.; Clark, L.; Musalo, R.; Wang, W.; Saxena, A.; Li, C.-M.; Reik, W.; Ludwig, T.; Tycko, B.: Placental overgrowth in mice lacking the imprinted gene Ipl. Proc. Nat. Acad. Sci. 99: 7490-7495, 2002.
[0011934]2522.Frank, D.; Mendelsohn, C. L.; Ciccone, E.; Svensson, K.; Ohlsson, R.; Tycko, B. :Mammalian Genome 10: 1150-1159, 1999.
[0011935]2523.Muller, S.; van den Boom, D.; Zirkel, D.; Koster, H.; Berthold, F.; Schwab, M.; Westphal, M.; Zumkeller, W.: Retention of imprinting of the human apoptosis-related gene TSSC3 in human brain tumors. Hum. Molec. Genet. 9: 757-763, 2000.
[0011936]2524.Qian, N.; Frank, D.; O'Keefe, D.; Dao, D.; Zhao, L.; Yuan, L.; Wang, Q.; Keating, M.; Walsh, C.; Tycko, B.: The IPL gene on chromosome 11p15.5 is imprinted in humans and mice and is similar to TDAG51, implicated in Fas expression and apoptosis. Hum. Molec. Genet. 6: 2021-2029, 1997.
[0011937]2525.Toshima, J.; Ohashi, K.; Okano, I.; Nunoue, K.; Kishioka, M.; Kuma, K.; Miyata, T.; Hirai, M.; Baba, T.; Mizuno, K.: Identification and characterization of a novel protein kinase, TESK1, specifically expressed in testicular germ cells. J. Biol. Chem. 270: 31331-31337, 1995.
[0011938]2526.Toshima, J.; Toshima, J. Y.; Suzuki, M.; Noda, T.; Mizuno, K.: Cell-type-specific expression of a TESK1 promoter-linked lacZ gene in transgenic mice. Biochem. Biophys. Res. Commun. 286: 566-573, 2001.
[0011939]2527.Garcia-Anoveros, J.; Derfler, B.; Neville-Golden, J.; Hyman, B. T.; Corey, D. P.: BNaC1 and BNaC2 constitute a new family of human neuronal sodium channels related to degenerins and epithelial sodium channels. Proc. Nat. Acad. Sci. 94: 1459-1464, 1997.
[0011940]2528.Price, M. P.; Lewin, G. R.; Mcllwrath, S. L.; Cheng, C.; Xie, J.; Heppenstall, P. A.; Stucky, C. L.; Mannsfeldt, A. G.; Brennan, T. J.; Drummond, H. A.; Qiao, J.; Benson, C. J.; Tarr, D. E.; Hrstka, R. F.; Yang, B.; Williamson, R. A.; Welsh, M. J.: The mammalian sodium channel BNC1 is required for normal touch sensation. Nature 407: 1007-1011, 2000.
[0011941]2529.Price, M. P.; Snyder, P. M.; Welsh, M. J.: Cloning and expression of a novel human brain Na+ channel. J. Biol. Chem. 271: 7879-7882, 1996.
[0011942]2530.Waldmann, R.; Champigny, G.; Voilley, N.; Lauritzen, I.; Lazdunski, M.: The mammalian degenerin MDEG, an amiloride-sensitive cation channel activated by mutations causing neurodegeneration in Caenorhabditis elegans. J. Biol. Chem. 271: 10433-10436, 1996.
[0011943]2531.Waldmann, R.; Voilley, N.; Mattei, M.-G.; Lazdunski, M.: The human degenerin MDEG, an amiloride-sensitive neuronal cation channel, is localized on chromosome 17q11.2-17q12 close to the microsatellite D17S798. Genomics 37: 269-270, 1996.
[0011944]2532.Bjursell, C.; Erlandson, A.; Nordling, M.; Nilsson, S.; Wahlstrom, J.; Stibler, H.; Kristiansson, B.; Martinsson, T.: PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families. Hum. Mutat. 16: 395-400, 2000.
[0011945]2533.Darlington, T. K.; Wager-Smith, K.; Ceriani, M. F.; Staknis, D.; Gekakis, N.; Steeves, T. D. L.; Weitz, C. J.; Takahashi, J. S.; Kay, S. A.: Closing the circadian loop: CLOCK-induced transcription of its own inhibitors per and tim. Science 280: 1599-1603, 1998.
[0011946]2534.Gekakis, N.; Staknis, D.; Nguyen, H. B.; Davis, F. C.; Wilsbacher, L. D.; King, D. P.; Takahashi, J. S.; Weitz, C. J.: Role of the CLOCK protein in the mammalian circadian mechanism. Science 280: 1564-1569, 1998.
[0011947]2535.Rutter, J.; Reick, M.; Wu, L. C.; McKnight, S. L.: Regulation of Clock and NPAS2 DNA binding by the redox state of NAD cofactors. Science 293: 510-514, 2001.
[0011948]2536.Shearman, L. P.; Sriram, S.; Weaver, D. R.; Maywood, E. S.; Chaves, I.; Zheng, B.; Kume, K.; Lee, C. C.; van der Horst, G. T. J.; Hastings, M. H.; Reppert, S. M.: Interacting molecular loops in the mammalian circadian clock. Science 288: 1013-1019, 2000.
[0011949]2537.Odermatt, A.; Taschner, P. E. M.; Scherer, S. W.; Beatty, B.; Khanna, V. K.; Cornblath, D. R.; Chaudhry, V.; Yee, W.-C.; Schrank, B.; Karpati, G.; Breuning, M. H.; Knoers, N.; MacLennan, D. H.: Characterization of the gene encoding human sarcolipin (SLN), a proteolipid associated with SERCA1: absence of structural mutations in five patients with Brody disease. Genomics 45: 541-553, 1997.
[0011950]2538.Bowden, P. E.; Hainey, S. D.; Parker, G.; Jones, D. O.; Zimonjic, D.; Popescu, N.; Hodgins, M. B.: Characterization and chromosomal localization of human hair-specific keratin genes and comparative expression during the hair growth cycle. J. Invest. Derm. 110: 158-164, 1998.
[0011951]2539.Heid, H. W.; Werner, E.; Franke, W. W.: The complement of native alpha-keratin polypeptides of hair-forming cells: a subset of eight polypeptides that differ from epithelial cytokeratins. Differentiation 32: 101-119, 1986.
[0011952]2540.Langbein, L.; Rogers, M. A.; Winter, H.; Silke, P.; Beckhaus, U.; Rackwitz, H.-R.; Schweizer, J.: The catalog of human hair keratins. I. Expression of the nine type I members in the hair follicle. J. Biol. Chem. 274: 19874-19884, 1999.
[0011953]2541.Rogers, M. A.; Langbein, L.; Praetzel, S.; Moll, I.; Krieg, T.; Winter, H.; Schweizer, J.: Sequences and differential expression of three novel human type-II hair keratins. Differentiation 61: 187-194, 1997.
[0011954]2542.Rogers, M. A.; Nischt, R.; Korge, B.; Krieg, T.; Fink, T. M.; Lichter, P.; Winter, H.; Schweizer, J.: Sequence data and chromosomal localization of human type I and type II hair keratin genes. Exp. Cell Res. 220: 357-362, 1995.
[0011955]2543.Rogers, M. A.; Winter, H.; Wolf, C.; Heck, M.; Schweizer, J.: Characterization of a 190-kilobase pair domain of human type I hair keratin genes. J. Biol. Chem. 273: 26683-26691, 1998.
[0011956]2544.Kaiser, P.; Seufert, W.; Hofferer, L.; Kofler, B.; Sachsenmaier, C.; Herzog, H.; Jentsch, S.; Schweiger, M.; Schneider, R.: Human ubiquitin-conjugating enzyme homologous to yeast UBC8. J. Biol. Chem. 269: 8797-8802, 1994.
[0011957]2545.Giannakudis, J.; Ropke, A.; Kujat, A.; Krajewska-Walasek, M.; Hughes, H.; Fryns, J.-P.; Bankier, A.; Amor, D.; Schlicker, M.; Hansmann, I.: Parental mosaicism of JAG1 mutations in families with Alagille syndrome. Europ. J. Hum. Genet. 9: 209-216, 2001.
[0011958]2546.Gray, G. E.; Mann, R. S.; Mitsiadis, E.; Henrique, D.; Carcangiu, M.-L.; Banks, A.; Leiman, J.; Ward, D.; Ish-Horowitz, D.; Artavanis-Tsakonas, S.: Human ligands of the Notch receptor. Am. J. Path. 154: 785-794, 1999.
[0011959]2547.Heritage, M. L.; MacMillan, J. C.; Colliton, R. P.; Genin, A.; Spinner, N. B.; Anderson, G. J.: Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population. Hum. Mutat. 16: 408-416, 2000.
[0011960]2548.Jones, E. A.; Clement-Jones, M.; Wilson, D. I.: JAGGED1 expression in human embryos: correlation with the Alagille syndrome phenotype. J. Med. Genet. 37: 658-662, 2000.
[0011961]2549.Kiernan, A. E.; Ahituv, N.; Fuchs, H.; Balling, R.; Avraham, K. B.; Steel, K. P.; Hrabe de Angelis, M.: The Notch ligand Jagged1 is required for inner ear sensory development. Proc. Nat. Acad. Sci. 98: 3873-3878, 2001.
[0011962]2550.Krantz, I. D.; Colliton, R. P.; Genin, A.; Rand, E. B.; Li, L.; Piccoli, D. A.; Spinner, N. B.: Spectrum and frequency of Jagged1 (JAG1) mutations in Alagille syndrome patients and their families. Am. J. Hum. Genet. 62: 1361-1369, 1998.
[0011963]2551.Krantz, I. D.; Smith, R.; Colliton, R. P.; Tinkel, H.; Zackai, E. H.; Piccoli, D. A.; Goldmuntz, E.; Spinner, N. B.: Jagged1 mutations in patients ascertained with isolated congenital heart defects. Am. J. Med. Genet. 84: 56-60, 1999.
[0011964]2552.Le Caignec, C.; Lefevre, M.; Schott, J. J.; Chaventre, A.; Gayet, M.; Calais, C.; Moisan, J. P.: Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of Jagged 1. Am. J. Hum. Genet. 71: 180-186, 2002.
[0011965]2553.Li, L.; Krantz, I. D.; Deng, Y.; Genin, A.; Banta, A. B.; Collins, C. C.; Qi, M.; Trask, B. J.; Kuo, W. L.; Cochran, J.; Costa, T.; Pierpont, M. E. M.; Rand, E. B.; Piccoli, D. A.; Hood, L.; Spinner, N. B.: Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nature Genet. 16: 243-251, 1997.
[0011966]2554.Lindsell, C. E.; Shawber, C. J.; Boulter, J.; Weinmaster, G.: Jagged: a mammalian ligand that activates Notch1. Cell 80: 909-917, 1995.
[0011967]2555.Loomes, K. M.; Underkoffler, L. A.; Morabito, J.; Gottlieb, S.; Piccoli, D. A.; Spinner, N. B.; Baldwin, H. S.; Oakey, R. J.: The expression of Jagged1 in the developing mammalian heart correlates with cardiovascular disease in Alagille syndrome. Hum. Molec. Genet. 8: 2443-2449, 1999.
[0011968]2556.Morrissette, J. J. D.; Colliton, R. P.; Spinner, N. B.: Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome. Hum. Molec. Genet. 10: 405-413, 2001.
[0011969]2557.Oda, T.; Elkahloun, A. G.; Meltzer, P. S.; Chandrasekharappa, S. C.: Identification and cloning of the human homolog (JAGL1) of the rat Jagged gene from the Alagille syndrome critical region at 20p12. Genomics 43: 376-379, 1997.
[0011970]2558.Oda, T.; Elkahloun, A. G.; Pike, B. L.; Okajima, K.; Krantz, I. D.; Genin, A.; Piccoli, D. A.; Meltzer, P. S.; Spinner, N. B.; Collins, F. S.; Chandrasekharappa, S. C.: Mutations in the human Jagged1 gene are responsible for Alagille syndrome. Nature Genet. 16: 235-242, 1997.
[0011971]2559.Raas-Rothschild, A.; Shteyer, E.; Lerer, I.; Nir, A.; Granot, E.; Rein, A. J. J. T.: Jagged1 gene mutation for abdominal coarctation of the aorta in Alagille syndrome. Am. J. Med. Genet. 112: 75-78, 2002.
[0011972]2560.Spinner, N. B.; Colliton, R. P.; Crosnier, C.; Krantz, I. D.; Hadchouel, M.; Meunier-Rotival, M.: Jagged1 mutations in Alagille syndrome. Hum. Mutat. 17: 18-33, 2001.
[0011973]2561.Tsai, H.; Hardisty, R. E.; Rhodes, C.; Kiernan, A. E.; Roby, P.; Tymowska-Lalanne, Z.; Mburu, P.; Rastan, S.; Hunter, A. J.; Brown, S. D. M.; Steel, K. P.: The mouse slalom mutant demonstrates a role for Jagged1 in neuroepithelial patterning in the organ of Corti. Hum. Molec. Genet. 10: 507-512, 2001.
[0011974]2562.Yuan, Z. R.; Okaniwa, M.; Nagata, I.; Tazawa, Y.; Ito, M.; Kawarazaki, K.; Inomata, Y.; Okano, S.; Yoshida, T.; Kobayashi, N.; Kohsaka, T. : The DSL domain in mutant JAG1 ligand is essential for the severity of the liver defect in Alagille syndrome. Clin. Genet. 59: 330-337, 2001.
[0011975]2563.Penninger, J. M.; Woodgett, J.: PTEN--coupling tumor suppression to stem cells? Science 294: 2116-2118, 2001.
[0011976]2564.Raizis, A. M.; Ferguson, M. M.; Nicholls, D. T.; Goodisson, D. W.; George, P. M.: A novel 5-prime (40^41insA) mutation in a patient with numerous manifestations of Cowden disease. J. Invest. Derm. 114: 597-598, 2000.
[0011977]2565.Ramaswamy, S.; Nakamura, N.; Vazquez, F.; Batt, D. B.; Perera, S.; Roberts, T. M.; Sellers, W. R.: Regulation of G1 progression by the PTEN tumor suppressor protein is linked to inhibition of the phosphatidylinositol 3-kinase/Akt pathway. Proc. Nat. Acad. Sci. 96: 2110-2115, 1999.
[0011978]2566.Reardon, W.; Zhou, X.-P.; Eng, C.: A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association. J. Med. Genet. 38: 820-823, 2001.
[0011979]2567.Shugart, Y. Y.; Cour, C.; Renard, H.; Lenoir, G.; Goldgar, D.; Teare, D.; Easton, D.; Rahman, N.; Gusterton, R.; Seal, S.; Barfoot, R.; Stratton, M.; and 10 others: Linkage analysis of 56 multiplex families excludes the Cowden disease gene PTEN as a major contributor to familial breast cancer. J. Med. Genet. 36: 720-721, 1999.
[0011980]2568.Stambolic, V.; MacPherson, D.; Sas, D.; Lin, Y.; Snow, B.; Jang, Y.; Benchimol, S.; Mak, T. W.: Regulation of PTEN transcription by p53. Molec. Cell 8: 317-325, 2001.
[0011981]2569.Stambolic, V.; Suzuki, A.; de la Pompa, J. L.; Brothers, G. M.; Mirtsos, C.; Sasaki, T.; Ruland, J.; Penninger, J. M.; Siderovski, D. P.; Mak, T. W.: Negative regulation of PKB/Akt-dependent cell survival by the tumor suppressor PTEN. Cell 95: 29-39, 1998.
[0011982]2570.Sutphen, R.; Diamond, T. M.; Minton, S. E.; Peacocke, M.; Tsou, H. C.; Root, A. W.: Severe Lhermitte-Duclos disease with unique germline mutation of PTEN. Am. J. Med. Genet. 82: 290-293, 1999.
[0011983]2571.Tamura, M.; Gu, J.; Matsumoto, K.; Aota, S.; Parsons, R.; Yamada, K. M.: Inhibition of cell migration, spreading, and focal adhesions by tumor suppressor PTEN. Science 280: 1614-1617, 1998.
[0011984]2572.Tsou, H. C.; Ping, X. L.; Xie, X. X.; Gruener, A. C.; Zhang, H.; Nini, R.; Swisshelm, K.; Sybert, V.; Diamond, T. M.; Sutphen, R.; Peacocke, M.: The genetic basis of Cowden's syndrome: three novel mutations in PTEN/MMAC1/TEP1. Hum. Genet. 102: 467-473, 1998.
[0011985]2573.Wen, S.; Stolarov, J.; Myers, M. P.; Su, J. D.; Wigler, M. H.; Tonks, N. K.; Durden, D. L.: PTEN controls tumor-induced angiogenesis. Proc. Nat. Acad. Sci. 98: 4622-4627, 2001.
[0011986]2574.Steck, P. A.; Pershouse, M. A.; Jasser, S. A.; Yung, W. K. A.; Lin, H.; Ligon, A. H.; Langford, L. A.; Baumgard, M. L.; Hattier, T.; Davis, T.; Frye, C.; Hu, R.; Swedlund, B.; Teng, D. H. F.; Tavtigian, S. V.: Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers. Nature Genet. 15: 356-362, 1997.
[0011987]2575.Tsou, H. C.; Teng, D. H.-F.; Ping, X. L.; Brancolini, V.; Davis, T.; Hu, R.; Xie, X. X.; Gruener, A. C.; Schrager, C. A. Christiano, A. M.; Eng, C.; Steck, P.; Ott, J.; Tavtigian, S. V.; Peacocke, M. : The role of MMAC1 mutations in early-onset breast cancer: causative in association with Cowden syndrome and excluded in BRCA1-negative cases. Am. J. Hum. Genet. 61: 1036-1043, 1997.
[0011988]2576.Weng, L.-P.; Brown, J. L.; Eng, C.: PTEN coordinates G1 arrest by down-regulating cyclin D1 via its protein phosphatase activity and up-regulating p27 via its lipid phosphatase activity in a breast cancer model. Hum. Molec. Genet. 10: 599-604, 2001.
[0011989]2577.Weng, L.-P.; Gimm, O.; Kum, J. B.; Smith, W. M.; Zhou, X.-P.; Wynford-Thomas, D.; Leone, G.; Eng, C.: Transient ectopic expression of PTEN in thyroid cancer cell lines induces cell cycle arrest and cell type-dependent cell death. Hum. Molec. Genet. 10: 251-258, 2001.
[0011990]2578.Weng, L.-P.; Smith, W. M.; Brown, J. L.; Eng, C.: PTEN inhibits insulin-stimulated MEK/MAPK activation and cell growth by blocking IRS-1 phosphorylation and IRS-1/Grb-2/Sos complex formation in a breast cancer model. Hum. Molec. Genet. 10: 605-616, 2001.
[0011991]2579.Weng, L.-P.; Smith, W. M.; Dahia, P. L. M.; Ziebold, U.; Gil, E.; Lees, J. A.; Eng, C.: PTEN suppresses breast cancer cell growth by phosphatase activity-dependent G1 arrest followed by cell death. Cancer Res. 59: 5808-5814, 1999.
[0011992]2580.Wishart, M. J.; Taylor, G. S.; Slama, J. T.; Dixon, J. E.: PTEN and myotubularin phosphoinositide phosphatases: bringing bioinformatics to the lab bench. Cell Biol. 13: 172-181, 2001.
[0011993]2581.Zori, R. T.; Marsh, D. J.; Graham, G. E.; Marliss, E. B.; Eng, C.: Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. Am. J. Med. Genet. 80: 399-402, 1998.
[0011994]2582.Zundel, W.; Schindler, C.; Haas-Kogan, D.; Koong, A.; Kaper, F.; Chen, E.; Gottschalk, A. R.; Ryan, H. E.; Johnson, R. S.; Jefferson, A. B.; Stokoe, D.; Giaccia, A. J.: Loss of PTEN facilitates HIF-1-mediated gene expression. Genes Dev. 14: 391-396, 2000.
[0011995]2583.Jacquemin, P.; Depetris, D.; Mattei, M.-G.; Martial, J. A.; Davidson, I.: Localization of human transcription factor TEF-4 and TEF-5 (TEAD2, TEAD3) genes to chromosomes 19q13.3 and 6p21.2 using fluorescence in situ hybridization and radiation hybrid analysis. Genomics 55: 127-129, 1999.
[0011996]2584.Kai, M.; Sakane, F.; Imai, S.; Wada, I.; Kanoh, H.: Molecular cloning of a diacylglycerol kinase isozyme predominantly expressed in human retina with a truncated and inactive enzyme expression in most other human cells. J. Biol. Chem. 269: 18492-18498, 1994.
[0011997]2585.Masai, I.; Okazaki, A.; Hosoya, T.; Hotta, Y.: Drosophila retinal degeneration A gene encodes an eye-specific diacylglycerol kinase with cysteine-rich zinc-finger motifs and ankyrin repeats. Proc. Nat. Acad. Sci. 90: 11157-11161, 1993.
[0011998]2586.Stohr, H.; Klein, J.; Gehrig, A.; Koehler, M. R.; Jurklies, B.; Kellner, U.; Leo-Kottler, B.; Schmid, M.; Weber, B. H. F.: Mapping and genomic characterization of the gene encoding diacylglycerol kinase gamma (DAGK3): assessment of its role in dominant optic atrophy (OPA1). Hum. Genet. 104: 99-105, 1999.
[0011999]2587.Hart, M. J.; Sharma, S.; elMasry, N.; Qiu, R.-G.; McCabe, P.; Polakis, P.; Bollag, G.: Identification of a novel guanine nucleotide exchange factor for the rho GTPase. J. Biol. Chem. 271: 25452-25458, 1996.
[0012000]2588.Gripp, K. W.; Zackai, E. H.; Stolle, C. A.: Mutations in the human TWIST gene. Hum. Mutat. 15: 150-155, 2000.
[0012001]2589.Valve, R.; Sivenius, K.; Miettinen, R.; Pihlajamaki, J.; Rissanen, A.; Deeb, S. S.; Auwerx, J.; Uusitupa, M.; Laakso, M.: Two polymorphisms in the peroxisome proliferator-activated receptor-gamma gene are associated with severe overweight among obese women. J. Clin. Endocr. Metab. 84: 3708-3712, 1999.
[0012002]2590.Wang, X. L.; Oosterhof, J.; Duarte, N.: Peroxisome proliferator-activated receptor gamma C161-T polymorphism and coronary artery disease. Cardiovasc. Res. 44: 588-594, 1999.
[0012003]2591.Yen, C.-J.; Beamer, B. A.; Negri, C.; Silver, K.; Brown, K. A.; Yarnall, D. P.; Burns, D. K.; Roth, J.; Shuldiner, A. R.: Molecular scanning of the human peroxisome proliferator activated receptor gamma (hPPAR-gamma) gene in diabetic Caucasians: identification of a pro12ala PPARgamma-2 missense mutation. Biochem. Biophys. Res. Commun. 241: 270-274, 1997.
[0012004]2592.Bravo, J.; Karathanassis, D.; Pacold, C. M.; Pacold, M. E.; Ellson, C. D.; Anderson, K. E.; Butler, P. J. G.; Lavenir, I.; Perisic, O.; Hawkins, P. T.; Stephens, L.; Williams, R. L.: The crystal structure of the PX domain from p40-phox bound to phosphatidylinositol 3-phosphate. Molec. Cell 829-839, 2001.
[0012005]2593.Zhan, S.; Vazquez, N.; Zhan, S.; Wientjes, F. B.; Budarf, M. L.; Schrock, E.; Ried, T.; Green, E. D.; Chanock, S. J.: Genomic structure, chromosomal localization, start of transcription, and tissue expression of the human p40-phox, a new component of the nicotinamide adenine dinucleotide phosphate-oxidase complex. Blood 88: 2714-2721, 1996.
[0012006]2594.Chan, J. Y.; Han, X.-L.; Kan, Y. W.: Isolation of cDNA encoding the human NF-E2 protein. Proc. Nat. Acad. Sci. 90: 11366-11370, 1993.
[0012007]2595.Peters, L. L.; Andrews, N. C.; Eicher, E. M.; Davidson, M. B.; Orkin, S. H.; Lux, S. E.: Mouse microcytic anaemia caused by a defect in the gene encoding the globin enhancer-binding protein NF-E2. Nature 362: 768-770, 1993.
[0012008]2596.Peters, L. L.; Bishop, T. R.; Andrews, N. C.: Globin-enhancer binding factor NF-E2 is implicated in the regulation of heme biosynthesis and iron uptake in mk/mk mice. (Abstract) Blood 82 (suppl. 1): 179a, 1993.
[0012009]2597.Shivdasani, R. A.; Orkin, S. H.: Erythropoiesis and globin gene expression in mice lacking the transcription factor NF-E2. Proc. Nat. Acad. Sci. 92: 8690-8694, 1995.
[0012010]2598.Shivdasani, R. A.; Rosenblatt, M. F.; Zucker-Franklin, D.; Jackson, C. W.; Hunt, P.; Saris, C. J. M.; Orkin, S. H.: Transcription factor NF-E2 is required for platelet formation independent of the actions of thrombopoietin/MGDF in megakaryocyte development. Cell 81: 695-704, 1995.
[0012011]2599.Weremowicz, S.; Andrews, N. C.; Orkin, S. H.; Morton, C. C.: Mapping the p45 subunit of human NFE2 to 12q13. (Abstract) Human Genome Mapping Workshop 93 25, 1993.
[0012012]2600.Natowicz, M. R.; Short, M. P.; Wang, Y.; Dickersin, G. R.; Gebhardt, M. C.; Rosenthal, D. I.; Sims, K. B.; Rosenberg, A. E.: Clinical and biochemical manifestations of hyaluronidase deficiency. New Eng. J. Med. 335: 1029-1033, 1996.
[0012013]2601.Triggs-Raine, B.; Salo, T. J.; Zhang, H.; Wicklow, B. A.; Natowicz, M. R.: Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX. Proc. Nat. Acad. Sci. 96: 6296-6300, 1999.
[0012014]2602.Carlson, H.; Ota, S.; Campbell, C. E.; Hurlin, P. J.: A dominant repression domain in Tbx3 mediates transcriptional repression and cell immortalization: relevance to mutations in Tbx3 that cause ulnar-mammary syndrome. Hum. Molec. Genet. 10: 2403-2413, 2001.
[0012015]2603.Bourgeois, P.; Bolcato-Bellemin, A.-L.; Danse, J.-M.; Bloch-Zupan, A.; Yoshiba, K.; Stoetzel, C.; Perrin-Schmitt, F.: The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome. Hum. Molec. Genet. 7: 945-957, 1998.
[0012016]2604.Bamshad, M.; Le, T.; Watkins, W. S.; Dixon, M. E.; Kramer, B. E.; Roeder, A. D.; Carey, J. C.; Root, S.; Schinzel, A.; Van Maldergem, L.; Gardner, R. J. M.; Lin, R. C.; Seidman, C. E.; Seidman, J. G.; Wallerstein, R.; Moran, E.; Sutphen, R.; Campbell, C. E.; Jorde, L. B.: The spectrum of mutations in TBX3: genotype/phenotype relationship in ulnar-mammary syndrome. Am. J. Hum. Genet. 64: 1550-1562, 1999.
[0012017]2605.Hamamori, Y.; Sartorelli, V.; Ogryzko, V.; Puri, P. L.; Wu, H.-Y.; Wang, J. Y. J.; Nakatani, Y.; Kedes, L.: Regulation of histone acetyltransferases p300 and PCAF by the bHLH protein Twist and adenoviral oncoprotein E1A. Cell 96: 405-413, 1999.
[0012018]2606.Krebs, I.; Weis, I.; Hudler, M.; Rommens, J. M.; Roth, H.; Scherer, S. W.; Tsui, L.-C.; Fuchtbauer, E.-M.; Grzeschik, K.-H.; Tsuji, K.; Kunz, J.: Translocation breakpoint maps 5 kb 3-prime from TWIST in a patient affected with Saethre-Chotzen syndrome. Hum. Molec. Genet. 6: 1079-1086, 1997.
[0012019]2607.Shiratori, H.; Sakuma, R.; Watanabe, M.; Hashiguchi, H.; Mochida, K.; Sakai, Y.; Nishino, J.; Saijoh, Y.; Whitman, M.; Hamada, H.: Two-step regulation of left-right asymmetric expression of Pitx2: initiation by Nodal signaling and maintenance by Nkx2. Molec. Cell 7: 137-149, 2001.
[0012020]2608.Yoshioka, H.; Meno, C.; Koshiba, K.; Sugihara, M.; Itoh, H.; Ishimaru, Y.; Inoue, T.; Ohuchi, H.; Semina, E. V.; Murray, J. C.; Hamada, H.; Noji, S.: Pitx2, a bicoid-type homeobox gene, is involved in a lefty-signaling pathway in determination of left-right asymmetry. Cell 94: 299-305, 1998.
[0012021]2609.Cahana, A.; Escamez, T.; Nowakowski, R. S.; Hayes, N. L.; Giacobini, M.; von Holst, A.; Shmueli, O.; Sapir, T.; McConnell, S. K.; Wurst, W.; Martinez, S.; Reiner, O.: Targeted mutagenesis of Lis1 disrupts cortical development and LIS1 homodimerization. Proc. Nat. Acad. Sci. 98: 6429-6434, 2001.
[0012022]2610.Cardoso, C.; Leventer, R. J.; Dowling, J. J.; Ward, H. L.; Chung, J.; Petras, K. S.; Roseberry, J. A.; Weiss, A. M.; Das, S.; Martin, C. L.; Pilz, D. T.; Dobyns, W. B.; Ledbetter, D. H.: Clinical and molecular basis of classical lissencephaly: mutations in the LIS1 gene (PAFAH1B1). Hum. Mutat. 19: 4-15, 2002.
[0012023]2611.Cardoso, C.; Leventer, R. J.; Matsumoto, N.; Kuc, J. A.; Ramocki, M. B.; Mewborn, S. K.; Dudlicek, L. L.; May, L. F.; Mills, P. L.; Das, S.; Pilz, D. T.; Dobyns, W. B.; Ledbetter, D. H.: The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene. Hum. Molec. Genet. 9: 3019-3028, 2000.
[0012024]2612.Chong, S. S.; Pack, S. D.; Roschke, A. V.; Tanigami, A.; Carrozzo, R.; Smith, A. C. M.; Dobyns, W. B.; Ledbetter, D. H.: A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3. Hum. Molec. Genet. 6: 147-155, 1997.
[0012025]2613.Faulkner, N. E.; Dujardin, D. L.; Tai, C.-Y.; Vaughan, K. T.; O'Connell, C. B.; Wang, Y.; Vallee, R. B.: A role for the lissencephaly gene LIS1 in mitosis and cytoplasmic dynein function. Nature Cell Biol. 2: 784-791, 2000.
[0012026]2614.Fogli, A.; Giglio, S.; Arrigo, G.; Lo Nigro, C.; Zollo, M.; Viggiano, L.; Rocchi, M.; Archidiacono, N.; Zuffardi, O.; Carrozzo, R.: Identification of two paralogous regions mapping to the short and long arms of human chromosome 2 comprising LIS1 pseudogenes. Cytogenet. Cell Genet. 86: 225-232, 1999.
[0012027]2615.Grunewald, S.; Schollen, E.; Van Schaftingen, E.; Jaeken, J.; Matthijs, G.: High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency). Am. J. Hum. Genet. 68: 347-354, 2001.
[0012028]2616.Kjaergaard, S.; Skovby, F.; Schwartz, M.: Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli. Europ. J. Hum. Genet. 7: 884-888, 1999.
[0012029]2617.Kjaergaard, S.; Skovby, F.; Schwartz, M.: Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1. Europ. J. Hum. Genet. 6: 331-336, 1998.
[0012030]2618.Kondo, I.; Mizugishi, K.; Yoneda, Y.; Hashimoto, T.; Kuwajima, K.; Yuasa, L.; Shigemoto, K.; Kuroda, Y.: Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1. Clin. Genet. 55: 50-54, 1999.
[0012031]2619.Matthijs, G.; Schollen, E.; Bjursell, C.; Erlandson, A.; Freeze, H.; Imtiaz, F.; Kjaergaard, S.; Martinsson, T.; Schwartz, M.; Seta, N.; Vuillaumier-Barrot, S.; Westphal, V.; Winchester, B.: Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia). Hum. Mutat. 16: 386-394, 2000.
[0012032]2620.Matthijs, G.; Schollen, E.; Van Schaftingen, E.; Cassiman, J.-J.; Jaeken, J.: Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A. Am. J. Hum. Genet. 62: 542-550, 1998.
[0012033]2621.Schollen, E.; Kjaergaard, S.; Legius, E.; Schwartz, M.; Matthijs, G.: Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia). Europ. J. Hum. Genet. 8: 367-371, 2000.
[0012034]2622.Schollen, E.; Pardon, E.; Heykants, L.; Renard, J.; Doggett, N. A.; Callen, D. F.; Cassiman, J. J.; Matthijs, G.: Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2-psi: the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene. Hum. Molec. Genet. 7: 157-164, 1998.
[0012035]2623.Vuillaumier-Barrot, S.; Hetet, G.; Barnier, A.; Dupre, T.; Cuer, M.; de Lonlay, P.; Cormier-Daire, V.; Durand, G.; Grandchamp, B.; Seta, N.: Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients. J. Med. Genet. 37: 579-580, 2000.
[0012036]2624.Westphal, V.; Kjaergaard, S.; Schollen, E.; Martens, K.; Grunewald, S.; Schwartz, M.; Matthijs, G.; Freeze, H. H.: A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency. Hum. Molec. Genet. 11: 599-604, 2002.
[0012037]2625.Dubrovskaya, V.; Lavigne, A.-C.; Davidson, I.; Acker, J.; Staub, A.; Tora, L.: Distinct domains of hTAFII100 are required for functional interaction with transcription factor TFIIF-beta (RAP30) and incorporation into the TFIID complex. EMBO J. 15: 3702-3712, 1996.
[0012038]2626.Dubrovskaya, V.; Mattei, M.-G.; Tora, L.: Localization of the gene (TAF2D) encoding the 100-kDa subunit (hTAFII100) of the human TFIID complex to chromosome 10 band q24-q25.2. Genomics 36: 556-557, 1996.
[0012039]2627.Tanese, N.; Saluja, D.; Vassallo, M. F.; Chen, J.-L.; Admon, A. : Molecular cloning and analysis of two subunits of the human TFIID complex: hTAFII130 and hTAFII100. Proc. Nat. Acad. Sci. 93: 13611-13616, 1996.
[0012040]2628.Tao, Y.; Guermah, M.; Martinez, E.; Oelgeschlager, T.; Hasegawa, S.; Takada, R.; Yamamoto, T.; Horikoshi, M.; Roeder, R. G.: Specific interactions and potential functions of human TAF(II)100. J. Biol. Chem. 272: 6714-6721, 1997.
[0012041]2629.Charlier, C.; Coppieters, W.; Farnir, F.; Grobet, L.; Leroy, P. L.; Michaux, C.; Mni, M.; Schwers, A.; Vanmanshoven, P.; Hanset, R.; Georges, M.: The mh gene causing double-muscling in cattle maps to bovine chromosome 2. Mammalian Genome 6: 788-792, 1995.
[0012042]2630.Ferrell, R. E.; Conte, V.; Lawrence, E. C.; Roth, S. M.; Hagberg, J. M.; Hurley, B. F.: Frequent sequence variation in the human myostatin (GDF8) gene as a marker for analysis of musclerelated phenotypes. Genomics 62: 203-207, 1999.
[0012043]2631.Gonzalez-Cadavid, N. F.; Taylor, W. E.; Yarasheski, K.; Sinha-Hikim, I.; Ma, K.; Ezzat, S.; Shen, R.; Lalani, R.; Asa, S.; Mamita, M.; Nair, G.; Arver, S.; Bhasin, S.: Organization of the human myostatin gene and expression in healthy men and HIV-infected men with muscle wasting. Proc. Nat. Acad. Sci. 95: 14938-14943, 1998.
[0012044]2632.Grobet, L.; Martin, L. J. R.; Poncelet, D.; Pirottin, D.; Brouwers, B.; Riquet, J.; Schoeberlein, A.; Dunner, S.; Menissier, F.; Massabanda, J.; Fries, R.; Hanset, R.; Georges, M.: A deletion in the bovine myostatin gene causes the double-muscled phenotype in cattle. Nature Genet. 17: 71-74, 1997.
[0012045]2633.Orstavik, S.; Solberg, R.; Tasken, K.; Nordahl, M.; Altherr, M. R.; Hansson, V.; Jahnsen, T.; Sandberg, M.: Molecular cloning, cDNA structure, and chromosomal localization of the human type II cGMP-dependent protein kinase. Biochem. Biophys. Res. Commun. 220: 759-765, 1996.
[0012046]2634.Pfeifer, A.; Aszodi, A.; Seidler, U.; Ruth, P.; Hofmann, F.; Fassler, R.: Intestinal secretory defects and dwarfism in mice lacking cGMP-dependent protein kinase II. Science 274: 2082-2084, 1996.
[0012047]2635.Buckel, A.; Beeson, D.; James, M.; Vincent, A.: Cloning of cDNA encoding human rapsyn and mapping of the RAPSN gene locus to chromosome 11p11.2-p11.1. Genomics 35: 613-616, 1996.
[0012048]2636.Frail, D.; McLaughlin, L.; Mudd, J.; Merlie, J.: Identification of the mouse muscle 43,000-Dalton acetylcholine receptor-associated protein (RAPsyn) by cDNA cloning. J. Biol. Chem. 263: 15602-15607, 1988.
[0012049]2637.Ohno, K.; Engel, A. G.; Shen, X.-M.; Selcen, D.; Brengman, J.; Harper, C. M.; Tsujino, A.; Milone, M.: Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. Am. J. Hum. Genet. 70: 875-885, 2002.
[0012050]2638.Bradbury, A.; Possenti, R.; Shooter, E. M.; Tirone, F.: Molecular cloning of PC3, a putatively secreted protein whose mRNA is induced by nerve growth factor and depolarization. Proc. Nat. Acad. Sci. 88: 3353-3357, 1991.
[0012051]2639.Duriez, C.; Falette, N.; Audoynaud, C.; Moyret-Lalle, C.; Bensaad, K.; Courtois, S.; Wang, Q.; Soussi, T.; Puisieux, A.: The human BTG2/TIS21/PC3 gene: genomic structure, transcriptional regulation and evaluation as a candidate tumor suppressor gene. Gene 282: 207-214, 2002.
[0012052]2640.Montagnoli, A.; Guardavaccaro, D.; Starace, G.; Tirone, F.: Overexpression of the nerve growth factor-inducible PC3 immediate early gene is associated with growth inhibition. Cell Growth Differ. 7: 1327-1336, 1996.
[0012053]2641.Clarke, E. P.; Sanwal, B. D.: Cloning of a human collagen-binding protein, and its homology with rat gp46, chick hsp47 and mouse J6 proteins. Biochim. Biophys. Acta 1129: 246-248, 1992.
[0012054]2642.Ikegawa, S.; Nakamura, Y.: Structure of the gene encoding human colligin-2 (CBP2). Gene 194: 301-303, 1997.
[0012055]2643.Ikegawa, S.; Sudo, K.; Okui, K.; Nakamura, Y.: Isolation, characterization and chromosomal assignment of human colligin-2 gene (CBP2). Cytogenet. Cell Genet. 71: 182-186, 1995.
[0012056]2644.Delplanque, J.; Vasseur, F.; Durand, E.; Abderrahmani, A.; Dina, C.; Waeber, G.; Guy-Grand, B.; Clement, K.; Weill, J.; Boutin, P.; Froguel, P.: Mutation screening of the urocortin gene: identification of new single nucleotide polymorphisms and association studies with obesity in French Caucasians. J. Clin. Endocr. Metab. 87: 867-869, 2002.
[0012057]2645.Donaldson, C. J.; Sutton, S. W.; Perrin, M. H.; Corrigan, A. Z.; Lewis, K. A.; Rivier, J. E.; Vaughan, J. M.; Vale, W. W.: Cloning and characterization of human urocortin. Endocrinology 137: 2167-2170, 1996.
[0012058]2646.Spina, M.; Merlo-Pich, E.; Chan, R. K. W.; Basso, A. M.; Rivier, J.; Vale, W.; Koob, G. F.: Appetite-suppressing effects of urocortin, a CRF-related neuropeptide. Science 273: 1561-1564, 1996.
[0012059]2647.Vaughan, J.; Donaldson, C.; Rittencourt, J.; Porrin, M. H.; Lewis, K.; Sutton, S.; Chan, R.; Turnbull, A. V.; Lovejoy, D.; Rivier, C.; Rivier, J.; Sawchenko, P. E.; Vale, W.: The mammalian neuropeptide urocortin, related to fish urotensin I and to corticotropin-releasing factor. Nature 378: 287-292, 1995.
[0012060]2648.Vetter, D. E.; Li, C.; Zhao, L.; Contarino, A.; Liberman, M. C.; Smith, G. W.; Marchuk, Y.; Koob, G. F.; Heinemann, S. F.; Vale, W.; Lee, K.-F.: Urocortin-deficient mice show hearing impairment and increased anxiety-like behavior. Nature Genet. 31: 363-369, 2002.
[0012061]2649.Amit, T.; Bergman, T.; Dastot, F.; Youdim, M. B. H.; Amselem, S.; Hochberg, Z.: A membrane-fixed, truncated isoform of the human growth hormone receptor. J. Clin. Endocr. Metab. 82: 3813-3817, 1997.
[0012062]2650.Amselem, S.; Duquesnoy, P.; Attree, O.; Novelli, G.; Bousnina, S.; Postel-Vinay, M.-C.; Goossens, M.: Laron dwarfism and mutations of the growth hormone-receptor gene. New Eng. J. Med. 321: 989-995, 1989.
[0012063]2651.Amselem, S.; Sobrier, M.-L.; Duquesnoy, P.; Rappaport, R.; Postel-Vinay, M.-C.; Gourmelen, M.; Dallapiccola, B.; Goossens, M.: Recurrent nonsense mutations in the growth hormone receptor from patients with Laron dwarfism. J. Clin. Invest. 87: 1098-1102, 1991.
[0012064]2652.Amselem, S.; Sobrier, M. L.; Duquesnoy, P.; Dallapiccola, B.; Gourmelen, M.; Rappaport, R.; Goossens, M.: Recurrent nonsense mutations in the human growth hormone-receptor gene. (Abstract) Am. J. Hum. Genet. 47 (suppl.): A107, 1990.
[0012065]2653.Ayling, R. M.; Ross, R.; Towner, P.; Von Laue, S.; Finidori, J.; Moutoussamy, S.; Buchanan, C. R.; Clayton, P. E.; Norman, M. R.: A dominant-negative mutation of the growth hormone receptor causes familial short stature. (Letter) Nature Genet. 16: 13-14, 1997.
[0012066]2654.Berg, M. A.; Guevara-Aguirre, J.; Rosenbloom, A. L.; Rosenfeld, R. G.; Francke, U.: Mutation creating a new splice site in the growth hormone receptor genes of 37 Ecuadorean patients with Laron syndrome. Hum. Mutat. 1: 24-34, 1992.
[0012067]2655.Duquesnoy, P.; Sobrier, M. L.; Amselem, S.; Goossens, M.: Defective membrane expression of human growth hormone (GH) receptor causes Laron-type GH insensitivity syndrome. Proc. Nat. Acad. Sci. 88: 10272-10276, 1991.
[0012068]2656.Edery, M.; Rozakis-Adcock, M.; Goujon, L.; Finidori, J.; Levi-Meyrueis, C.; Paly, J.; Djiane, J.; Postel-Vinay, M.-C.; Kelly, P. A.: Lack of hormone binding in COS-7 cells expressing a mutated growth hormone receptor found in Laron dwarfism. J. Clin. Invest. 91: 838-844, 1993.
[0012069]2657.Furukawa, K.; Soejima, H.; Niikawa, N.; Shiku, H.; Furukawa, K. : Genomic organization and chromosomal assignment of the human beta-1,4-N-acetylgalactosaminyltransferase gene. J. Biol. Chem. 271: 20836-20844, 1996.
[0012070]2658.Hamlin, P. J.; Jones, P. F.; Leek, J. P.; Bransfield, K.; Lench, N. J.; Aldersley, M. A.; Howdle, P. D.; Markham, A. F.; Robinson, P. A.: Assignment of GALGT encoding beta-1,4Nacetylgalactosaminyl-transferase (GalNAc-T) and KIF5A encoding neuronal kinesin (D12S1889) to human chromosome band 12q13 by assignment to ICI YAC 26EG10 and in situ hybridization. Cytogenet. Cell Genet. 82: 267-268, 1998.
[0012071]2659.Nagata, Y.; Yamashiro, S.; Yodoi, J.; Lloyd, K. O.; Shiku, H.; Furukawa, K.: Expression cloning of beta-1,4-N-acetylgalactosaminyltransferase cDNAs that determine the expression of G(M2) and G(D2) gangliosides. J. Biol. Chem. 267: 12082-12089, 1992.
[0012072]2660.Kosaki, K.; Bassi, M. T.; Kosaki, R.; Lewin, M.; Belmont, J.; Schauer, G.; Casey, B.: Characterization and mutation analysis of human LEFTY A and LEFTY B, homologues of murine genes implicated in left-right axis development. Am. J. Hum. Genet. 64: 712-721, 1999.
[0012073]2661.Kothapalli, R.; Buyuksal, I.; Wu, S.-Q.; Chegini, N.; Tabibzadeh, S.: Detection of ebaf, a novel human gene of the transforming growth factor beta superfamily: association of gene expression with endometrial bleeding. J. Clin. Invest. 99: 2342-2350, 1997.
[0012074]2662.Meno, C.; Itoh, Y.; Saijoh, Y.; Matsuda, Y.; Tashiro, K.; Kuhara, S.; Hamada, H.: Two closely-related left-right asymmetrically expressed genes, lefty-1 and lefty-2: their distinct expression domains, chromosomal linkage and direct neuralizing activity in Xenopus embryos. Genes Cells 2: 513-524, 1997.
[0012075]2663.Meno, C.; Saijoh, Y.; Fujii, H.; Ikeda, M.; Yokoyama, T.; Yokoyama, M.; Toyoda, Y.; Hamada, H.: Left-right asymmetric expression of the TGF-beta-family member lefty in mouse embryos. Nature 381: 151-155, 1996.
[0012076]2664.Meno, C.; Shimono, A.; Saijoh, Y.; Yashiro, K.; Mochida, K.; Ohishi, S.; Noji, S.; Kondoh, H.; Hamada, H.: Lefty-1 is required for left-right determination as a regulator of lefty-2 and nodal. Cell 94: 287-297, 1998.
[0012077]2665.Tabibzadeh, S.; Mason, J. M.; Shea, W.; Cai, Y.; Murray, M. J.; Lessey, B.: Dysregulated expression of ebaf, a novel molecular defect in the endometria of patients with infertility. J. Clin. Endocr. Metab. 85: 2526-2536, 2000.
[0012078]2666.Caterina, M. J.; Leffler, A.; Malmberg, A. B.; Martin, W. J.; Trafton, J.; Petersen-Zeltz, K. R.; Koltzenburg, M.; Basbaum, A. I.; Julius, D.: Impaired nociception and pain sensation in mice lacking the capsaicin receptor. Science 288: 306-313, 2000.
[0012079]2667.Caterina, M. J.; Schumacher, M. A.; Tominaga, M.; Rosen, T. A.; Levine, J. D.; Julius, D.: The capsaicin receptor: a heat-activated ion channel in the pain pathway. Nature 389: 816-824, 1997.
[0012080]2668.Jordt, S.-E.; Julius, D.: Molecular basis for species-specific sensitivity to 'hot' chili peppers. Cell 108: 421-430, 2002.
[0012081]2669.Liedtke, W.; Choe, Y.; Marti-Renom, M. A.; Bell, A. M.; Denis, C. S.; Sali, A.; Hudspeth, A. J.; Friedman, J. M.; Heller, S.: Vanilloid receptor-related osmotically activated channel (VR-OAC), a candidate vertebrate osmoreceptor. Cell 103: 525-535, 2000.
[0012082]2670.Liu, L.; Simon, S. A.: Similarities and differences in the currents activated by capsaicin, piperine, and zingerone in rat trigeminal ganglion cells. J. Neurophysiol. 76: 1858-1869, 1996.
[0012083]2671.Prescott, J.; Stevenson, R. J.: Psychophysical responses to single and multiple presentations of the oral irritant zingerone: relationship to frequency of chili consumption. Physiol. Behav. 60: 617-624, 1996.
[0012084]2672.Stevenson, R. J.; Prescott, J.: The effects of prior experience with capsaicin on ratings of its burn. Chem. Senses 19: 651-656, 1994.
[0012085]2673.Stevenson, R. J.; Yeomans, M. R.: Differences in ratings of intensity and pleasantness for the capsaicin burn between chili likers and non-likers: implications for liking development. Chem. Senses 18: 471-482, 1993.
[0012086]2674.Trevisani, M.; Smart, D.; Gunthorpe, M. J.; Tognetto, M.; Barbieri, M.; Campi, B.; Amadesi, S.; Gray, J.; Jerman, J. C.; Brough, S. J.; Owen, D.; Smith, G. D.; Randall, A. D.; Harrison, S.; Bianchi, A.; Davis, J. B.; Geppetti, P.: Ethanol elicits and potentiates nociceptor responses via the vanilloid receptor-1. Nature Neurosci. 5: 546-551, 2002.
[0012087]2675.de Boer, M.; de Klein, A.; Hossle, J.-P.; Seger, R.; Corbeel, L.; Weening, R. S.; Roos, D.: Cytochrome b(558)-negative, autosomal recessive chronic granulomatous disease: two new mutations in the cytochrome b(558) light chain of the NADPH oxidase (p22-phox). Am. J. Hum. Genet. 51: 1127-1135, 1992.
[0012088]2676.Dinauer, M. C.; Pierce, E. A.; Bruns, G. A. P.; Curnutte, J. T.; Orkin, S. H.: Human neutrophil cytochrome b light chain (p22-phox): gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease. J. Clin. Invest. 86: 1729-1737, 1990.
[0012089]2677.Dinauer, M. C.; Pierce, E. A.; Erickson, R. W.; Muhlebach, T. J.; Messner, H.; Orkin, S. H.; Seger, R. A.; Curnutte, J. T.: Point mutation in the cytoplasmic domain of the neutrophil p22-phox cytochrome b subunit is associated with a nonfunctional NADPH oxidase and chronic granulomatous disease. Proc. Nat. Acad. Sci. 88: 11231-11235, 1991.
[0012090]2678.Fukui, T.; Lassegue, B.; Kai, H.; Alexander, R. W.; Griendling, K. K.: Cytochrome b-558 alpha-subunit cloning and expression in rat aortic smooth muscle cells. Biochim. Biophys. Acta 1231: 215-219, 1995.
[0012091]2679.Hamers, M. N.; de Boer, M.; Meerhof, L. J.; Weening, R. S.; Roos, D.: Complementation in monocyte hybrids revealing genetic heterogeneity in chronic granulomatous disease. Nature 307: 553-555, 1984.
[0012092]2680.Inoue, N.; Kawashima, S.; Kanazawa, K.; Yamada, S.; Akita, H.; Yokoyama, M.: Polymorphism of the NADH/NADPH oxidase p22 phox gene in patients with coronary artery disease. Circulation 97: 135-137, 1998.
[0012093]2681.Li, A.; Prasad, A.; Mincemoyer, R.; Satorius, C.; Epstein, N.; Finkel, T.; Quyyumi, A. A.: Relationship of the C242T p22phox gene polymorphism to angiographic coronary artery disease and endothelial function. Am. J. Med. Genet. 86: 57-61, 1999.
[0012094]2682.Bothwell, T. H.; Cohen, I.; Abrahams, O. L.; Perold, S. M.: A familial study in idiopathic hemochromatosis. Am. J. Med. 27: 730-738, 1959.
[0012095]2683.Brittenham, G. M.; Franks, A. L.; Rickles, F. R.: Research priorities in hereditary hemochromatosis. Ann. Intern. Med. 129: 993-996, 1998.
[0012096]2684.Brown, A. S.; Gwinn, M.; Cogswell, M. E.; Khoury, M. J.: Hemochromatosis-associated morbidity in the United States: an analysis of the National Hospital Discharge Survey, 1979-1997. Genet. Med. 3: 109-111, 2001.
[0012097]2685.Bulaj, Z. J.; Ajioka, R. S.; Phillips, J. D.; LaSalle, B. A.; Jorde, L. B.; Griffen, L. M.; Edwards, C. Q.; Kushner, J. P.: Disease-related conditions in relatives of patients with hemochromatosis. New Eng. J. Med. 343: 1529-1535, 2000.
[0012098]2686.Bulaj, Z. J.; Griffen, L. M.; Jorde, L. B.; Edwards, C. Q.; Kushner, J. P.: Clinical and biochemical abnormalities in people heterozygous for hemochromatosis. New Eng. J. Med. 335: 1799-1805, 1996.
[0012099]2687.Bullen, J. J.; Spalding,P. B.; Ward, C. G.; Gutteridge, J. M. : Hemochromatosis, iron and septicemia caused by Vibrio vulnificus. Arch. Intern. Med. 151: 1606-1609, 1991.
[0012100]2688.Burt, M. J.; George, P. M.; Upton, J. D.; Collett, J. A.; Frampton, C. M. A.; Chapman, T. M.; Walmsley, T. A.; Chapman, B. A.: The significance of haemochromatosis gene mutations in the general population: implications for screening. Gut 43: 830-836, 1998.
[0012101]2689.Cairo, G.; Conte, D.; Bianchi, L.; Fraquelli, M.; Recalcati, S. : Reduced serum ceruloplasmin levels in hereditary haemochromatosis. Brit. J. Haemat. 114: 226-229, 2001.
[0012102]2690.Camaschella, C.; Roetto, A.; Cicilano, M.; Pasquero, P.; Bosio, S.; Gubetta, L.; Di Vito, F.; Girelli, D.; Totaro, A.; Carella, M.; Grifa, A.; Gasparini, P.: Juvenile and adult hemochromatosis are distinct genetic disorders. Europ. J. Hum. Genet. 5: 371-375, 1997.
[0012103]2691.Carella, M.; D'Ambrosio, L.; Totaro, A.; Grifa, A.; Valentino, M. A.; Piperno, A.; Girelli, D.; Roetto, A.; Franco, B.; Gasparini, P.; Camaschella, C.: Mutation analysis of the HLA-H gene in Italian hemochromatosis patients. Am. J. Hum. Genet. 60: 828-832, 1997.
[0012104]2692.Cartwright, G. E.; Edwards, C. Q.; Kravitz, K.; Skolnick, M.; Amos, D. B.; Johnson, A.; Bushjaer, L.: Hereditary hemochromatosis: phenotypic expression of the disease. New Eng. J. Med. 301: 175-179, 1979.
[0012105]2693.Cartwright, G. E.; Skolnick, M.; Amos, D. B.; Edwards, C. Q.; Kravitz, K.; Johnson, A.: Inheritance of hemochromatosis: linkage to HLA. Trans. Assoc. Am. Phys. 91: 273-281, 1978.
[0012106]2694.Cazzola, M.; Ascari, E.; Barosi, G.; Claudiani, G.; Dacco, M.; Kaltwasser, J. P.; Panaiotopoulos, N.; Schalk, K. P.; Werner, E. E. : Juvenile idiopathic haemochromatosis: a lifethreatening disorder presenting as hypogonadotropic hypogonadism. Hum. Genet. 65: 149-154, 1983.
[0012107]2695.Charlton, R. W.; Abrahams, C.; Bothwell, T. H.: Idiopathic hemochromatosis in young subjects. Arch. Path. 83: 132-140, 1967.
[0012108]2696.Cox, T.: Haemochromatosis: strike while the iron is hot. Nature Genet. 13: 386-388, 1996.
[0012109]2697.Cox, T. M.; Peters, T. J.: Uptake of iron by duodenal biopsy specimens from patients with iron-deficiency anaemia and primary haemochromatosis. Lancet I: 123-124, 1978.
[0012110]2698.Cragg, S. J.; Darke, C.; Worwood, M.: HLA class I and H ferritin gene polymorphisms in normal subjects and patients with haemochromatosis. Hum. Genet. 80: 63-68, 1988.
[0012111]2699.Cullen, L. M.; Gao, X.; Easteal, S.; Jazwinska, E. C.: The hemochromatosis 845 G-to-A and 187 C-to-G mutations: prevalence in non-Caucasian populations. Am. J. Hum. Genet. 62: 1403-1407, 1998.
[0012112]2700.Cutler, D. J.; Isner, J. M.; Bracey, A. W.; Hufnagel, C. A.; Conrad, P. W.; Roberts, W. C.; Kerwin, D. M.; Weintraub, A. M.: Hemochromatosis heart disease: an unemphasized cause of potentially reversible restrictive cardiomyopathy. Am. J. Med. 69: 923-928, 1980.
[0012113]2701.Dadone, M.; Skolnick, M.; Edwards, C.: Linkage between hereditary hemochromatosis and HLA. (Abstract) Cytogenet. Cell Genet. 32: 261-262, 1982.
[0012114]2702.Dadone, M. M.; Kushner, J. P.; Edwards, C. Q.; Bishop, D. T.; Skolnick, M. H.: Hereditary hemochromatosis: analysis of laboratory expression of the disease by genotype in 18 pedigrees. Am. J. Clin. Path. 78: 196-207, 1982.
[0012115]2703.David, V.; Papadopoulos, P.; Yaouanq, J.; Blayau, M.; Abel, L.; Zappone, E.; Perichon, M.; Drysdale, J.; Le Gall, J.-Y.; Simon, M. : Ferritin H gene polymorphism in idiopathic hemochromatosis. Hum. Genet. 81: 123-126, 1989.
[0012116]2704.David, V.; Paul, P.; Simon, M.; Le Gall, J.-Y.; Fauchet, R.; Gicquel, I.; Dugast, I.; Le Mignon, L.; Yaouanq, J.; Cohen, D.; Bourel, M. : DNA polymorphism related to the idiopathic hemochromatosis gene: evidence in a recombinant family. Hum. Genet. 74: 113-120, 1986.
[0012117]2705.David, V.; Paul, P.; Yaouanq, J.; Blayau, M.; Fauchet, R.; Cohen, D.; Le Gall, J. Y.; Simon, M.: Molecular genetic approach to the hemochromatosis gene. (Abstract) Cytogenet. Cell Genet. 46: 604, 1987.
[0012118]2706.De Braekeleer, M.: A prevalence and fertility study of haemochromatosis in Saguenay-Lac-Saint-Jean. Ann. Hum. Biol. 20: 501-505, 1993.
[0012119]2707.Debre, R.; Dreyfus, J.-C.; Frezal, J.; Labie, D.; Lamy, M.; Maroteaux, P.; Schapira, F.; Schapira, G.: Genetics of haemochromatosis. Ann. Hum. Genet. 23: 16-30, 1958.
[0012120]2708.de Juan, M.; Reta, A.; Castiella, A.; Pozueta, J.; Prada, A.; Cudrado, E.: HFE gene mutations analysis in Basque hereditary haemochromatosis patients and controls. Europ. J. Hum. Genet. 9: 961-964, 2001.
[0012121]2709.Deugnier, Y. M.; Guyader, D.; Crantock, L.; Lopez, J.-M.; Turlin, B.; Yaouanq, J.; Jouanolle, H.; Campion, J.-P.; Launois, B.; Halliday, J. W.; Powell, L. W.; Brissot, P.: Primary liver cancer in genetic hemochromatosis: a clinical, pathological, and pathogenetic study of 54 cases. Gastroenterology 104: 228-234, 1993.
[0012122]2710.Dormer, A. E.; Hale, J. F.: Familial Mediterranean fever, a cause of periodic fever. Brit. Med. J. 1: 87-89, 1962.
[0012123]2711.Dupont, M.; Dross, C.; Smaoui, N.; Nedelec, B.; Grateau, G.; Clepet, C.; Gourdier, I.; Kone-Paut, I.; Delpech, M.; Demaille, J.; Touitou, I.: Genotypic diagnosis of familial Mediterranean fever (FMF) using new microsatellite markers: example of two extensive non-Ashkenazi Jewish pedigrees. J. Med. Genet. 34: 375-381, 1997.
[0012124]2712.Ehrenfeld, E. N.; Eliakim, M.; Rachmilewitz, M.: Recurrent polyserositis (familial Mediterranean fever: periodic disease): a report of fifty-five cases. Am. J. Med. 31: 107-123, 1961.
[0012125]2713.Eshel, G.; Zemer, D.; Bar-Yochai, A.: Acute orchitis in familial Mediterranean fever. Ann. Intern. Med. 109: 164-165, 1988.
[0012126]2714.Fischel-Ghodsian, N.; Bu, X.; Oztas, S.; Prezant, T. R.; Danon, Y.; Shohat, T.; Rotter, J. I.; Shohat, M.: The gene for familial Mediterranean fever maps to the short arm of chromosome 16 in both Armenians and non-Ashkenazi Jews. (Abstract) Am. J. Hum. Genet. 51 (suppl.): A187, 1992.
[0012127]2715.Fischel-Ghodsian, N.; Bu, X.; Prezant, T. R.; Oeztas, S.; Huang, Z.-S.; Bohlman, M. C.; Rotter, J. I.; Shohat, M.: Regional mapping of the gene for familial Mediterranean fever on human chromosome 16p13. Am. J. Med. Genet. 46: 689-693, 1993.
[0012128]2716.Flatau, E.; Kohn, D.; Schiller, D.; Lurie, M.; Levy, E.: Schonlein-Henoch syndrome in patients with familial Mediterranean fever. Arthritis Rheum. 25: 42-47, 1982.
[0012129]2717.French FMF Consortium: A candidate gene for familial Mediterranean fever. Nature Genet. 17: 25-31, 1997.
[0012130]2718.French FMF Consortium: Localization of the familial Mediterranean fever gene (FMF) to a 250-kb interval in non-Ashkenazi Jewish founder haplotypes. Am. J. Hum. Genet. 59: 603-612, 1996.
[0012131]2719.Gershoni-Baruch, R.; Brik, R.; Shinawi, M.; Livneh, A.: The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever. Europ. J. Hum. Genet. 10: 145-149, 2002.
[0012132]2720.Gershoni-Baruch, R.; Shinawi, M.; Leah, K.; Badarnah, K.; Brik, R.: Familial Mediterranean fever: prevalence, penetrance and genetic drift. Europ. J. Hum. Genet. 9: 634-637, 2001.
[0012133]2721.Gershoni-Baruch, R.; Shinawi, M.; Shamaly, H.; Katsinetz, L.; Brik, R.: Familial Mediterranean fever: The segregation of four different mutations in 13 individuals from one inbred family: genotype-phenotype correlation and intrafamilial variability. Am. J. Med. Genet. 109: 198-201, 2002.
[0012134]2722.Goldfinger, S. E.: Colchicine for familial Mediterranean fever. (Letter) New Eng. J. Med. 287: 1302, 1972.
[0012135]2723.Gruberg, L.; Aksentijevich, I.; Balow, J.; Dean, M.; Kovo, M.; Pras, M.; Kastner, D. L.: Exclusion of candidate genes in familial Mediterranean fever. (Abstract) Cytogenet. Cell Genet. 58: 2113, 1991.
[0012136]2724.Heller, H.; Sohar, E.; Gafni, J.; Heller, J.: Amyloidosis in familial Mediterranean fever. Arch. Intern. Med. 107: 539-550, 1961.
[0012137]2725.Hurwich, B. J.; Schwartz, J.; Goldfarb, S.: Record survival of siblings with familial Mediterranean fever, phenotypes 1 and 2: case of renal vein thrombosis complicating the amyloidosis (phenotype 2). Arch. Intern. Med. 125: 308-311, 1970.
[0012138]2726.Ilfeld, D.; Kuperman, O.: Correction of a suppressor cell deficiency in four patients with familial Mediterranean fever by in vitro or in vivo colchicine. Clin. Exp. Immun. 50: 99-106, 1982.
[0012139]2727.International FMF Consortium: Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell 90: 797-807, 1997.
[0012140]2728.Janeway, T. C.; Mosenthal, H. O.: An unusual paroxysmal syndrome, probably allied to recurrent vomiting, with a study of the nitrogen metabolism. Trans. Assoc. Am. Phys. 23: 504-518, 1908.
[0012141]2729.Jones, M. B.; Adams, J. M.; Passer, J. A.: Amyloidosis in a renal allograft in familial Mediterranean fever. Ann. Intern. Med. 87: 579-581, 1977.
[0012142]2730.Kastner, D. L.; Aksentijevich, I.; Gruberg, L.; Balow, J.; Dean, M.; Hampsch, K.; Gazit, E.; Kovo, M.; Pras, M.: Familial Mediterranean fever: a 90 marker exclusion map and evidence for linkage to chromosome 17. (Abstract) Cytogenet. Cell Genet. 58: 2115, 1991.
[0012143]2731.Kees, S.; Langevitz, P.; Zemer, D.; Padeh, S.; Pras, M.; Livneh, A.: Attacks of pericarditis as a manifestation of familial Mediterranean fever (FMF). Quart. J. Med. 90: 643-647, 1997.
[0012144]2732.Khachadurian, A. K.; Armenian, H. K.: Familial paroxysmal polyserositis (familial Mediterranean fever): incidence of amyloidosis and mode of inheritance. Birth Defects Orig. Art. Ser. X(4): 62-66, 1974.
[0012145]2733.Knecht, A.; de Beer, F. C.; Pras, M.: Serum amyloid A protein in familial Mediterranean fever. Ann. Intern. Med. 102: 71-72, 1985.
[0012146]2734.Kogan, A.; Shinar, Y.; Lidar, M.; Revivo, A.; Langevitz, P.; Padeh, S.; Pras, M.; Livneh, A.: Common MEFV mutations among Jewish ethnic groups in Israel: high frequency of carrier and phenotype III states and absence of a perceptible biological advantage for the carrier state. Am. J. Med. Genet. 102: 272-276, 2001.
[0012147]2735.Lawrence, J. S.; Mellinkoff, S. M.: Familial Mediterranean fever. Trans. Assoc. Am. Phys. 72: 111-121, 1959.
[0012148]2736.Livneh, A.; Aksentijevich, I.; Langevitz, P.; Torosyan, Y.; G-Shoham, N.; Shinar, Y.; Pras, E.; Zaks, N.; Padeh, S.; Kastner, D. L.; Pras, M.: A single mutated MEFV allele in Israeli parents suffering from familial Mediterranean fever and Behcet's disease (FMF-BD). Europ. J. Hum. Genet. 9: 191-196, 2001.
[0012149]2737.Ludomirsky, A.; Passwell, J.; Boichis, H.: Amyloidosis in children with familial Mediterranean fever. Arch. Dis. Child. 56: 464-467, 1981.
[0012150]2738.Wang, Y.; Macke, J. P.; Abella, B. S.; Andreasson, K.; Worley, P.; Gilbert, D. J.; Copeland, N. G.; Jenkins, N. A.; Nathans, J.: A large family of putative transmembrane receptors homologous to the product of the Drosophila tissue polarity gene frizzled. J. Biol. Chem. 271: 4468-4476, 1996.
[0012151]2739.Chioza, B.; Wilkie, H.; Nashef, L.; Blower, J.; McCormick, D.; Sham, P.; Asherson, P.; Makoff, A. J.: Association between the alpha-1A calcium channel gene CACNA1A and idiopathic generalized epilepsy. Neurology 56: 1245-1246, 2001.
[0012152]2740.Bell, S. P.; Learned, R. M.; Jantzen, H.-M.; Tjian, R.: Functional cooperativity between transcription factors UBF1 and SL1 mediates human ribosomal RNA synthesis. Science 241: 1192-1197, 1988.
[0012153]2741.Chan, E. K. L.; Imai, H.; Hamel, J. C.; Tan, E. M.: Human autoantibody to RNA polymerase I transcription factor hUBF: molecular identity of nucleolus organizer region autoantigen NOR-90 and ribosomal RNA transcription upstream binding factor. J. Exp. Med. 174: 1239-1244, 1991.
[0012154]2742.Hisatake, K.; Nishimura, T.; Maeda, Y.; Hanada, K.; Song, C.-Z.; Muramatsu, M.: Cloning and structural analysis of cDNA and the gene for mouse transcription factor UBF. Nuc. Acids Res. 19: 4631-4637, 1991.
[0012155]2743.Jantzen, H.-M.; Admon, A.; Bell, S. P.; Tjian, R.: Nucleolar transcription factor hUBF contains a DNA-binding motif with homology to HMG proteins. Nature 344: 830-836, 1990.
[0012156]2744.Jones, K. A.; Black, D. M.; Griffiths, B. L.; Solomon, E.: Localization of the human RNA polymerase I transcription factor gene (UBTF) to the S17S183 locus on chromosome 17q21 and construction of a long-range restriction map of the region. Genomics 30: 602-604, 1995.
[0012157]2745.Matera, A. G.; Wu, W.; Imai, H.; O'Keefe, C. L.; Chan, E. K. L. : Molecular cloning of the RNA polymerase I transcription factor hUBF/NOR-90 (UBTF) gene and localization to 17q21.3 by fluorescence in situ hybridization and radiation hybrid mapping. Genomics 41: 135-138, 1997.
[0012158]2746.O'Mahony, D. J.; Rothblum, L. I.: Identification of two forms of the RNA polymerase I transcription factor UBF. Proc. Nat. Acad. Sci. 88: 3180-3184, 1991.
[0012159]2747.Konishi, H.; Tsutsui, H.; Murakami, T.; Yumikura-Futatsugi, S.; Yamanaka, K.; Tanaka, M.; Iwakura, Y.; Suzuki, N.; Takeda, K.; Akira, S.; Nakanishi, K.; Mizutani, H.: IL-18 contributes to the spontaneous development of atopic dermatitis-like inflammatory skin lesion independently of IgE/stat6 under specific pathogen-free conditions. Proc. Nat. Acad. Sci. 99: 11340-11345, 2002.
[0012160]2748.Lazner, F.; Gowen, M.; Pavasovic, D.; Kola, I.: Osteopetrosis and osteoporosis: two sides of the same coin. Hum. Molec. Genet. 8: 1839-1846, 1999.
[0012161]2749.Norman, C. H., Jr.; Dubowy, J.: Pycnodysostosis with splenomegaly and anemia. NY State J. Med. 71: 2419-2421, 1971.
[0012162]2750.Rantakokko, J.; Aro, H. T.; Savontaus, M.; Vuorio, E.: Mouse cathepsin K: cDNA cloning and predominant expression of the gene in osteoclasts, and in some hypertrophying chondrocytes during mouse development. FEBS Lett. 393: 307-313, 1996.
[0012163]2751.Rood, J. A.; Van Horn, S.; Drake, F. H.; Gowen, M.; Debouck, C. : Genomic organization and chromosome localization of the human cathepsin K gene (CTSK). Genomics 41: 169-176, 1997.
[0012164]2752.Saftig, P.; Hunziker, E.; Wehmeyer, O.; Jones, S.; Boyde, A.; Rommerskirch, W.; Moritz, J. D.; Schu, P.; von Figura, K.: Impaired osteoclastic bone resorption leads to osteopetrosis in cathepsin-K-deficient mice. Proc. Nat. Acad. Sci. 95: 13453-13458, 1998.
[0012165]2753.Shi, G.-P.; Chapman, H. A.; Bhairi, S. M.; DeLeeuw, C.; Reddy, V. Y.; Weiss, S. J.: Molecular cloning of human cathepsin O, a novel endoproteinase and homologue of rabbit OC2. FEBS Lett. 357: 129-134, 1995.
[0012166]2754.Evers, R.; Kool, M.; van Deemter, L.; Janssen, H.; Calafat, J.; Oomen, L. C. J. M.; Paulusma, C. C.; Oude Elferink, R. P. J.; Baas, F.; Schinkel, A. H.; Borst, P.: Drug export activity of the human canalicular multispecific organic anion transporter in polarized kidney MDCK cells expressing cMOAT (MRP2) cDNA. J. Clin. Invest. 101: 1310-1319, 1998.
[0012167]2755.Gopalan, G.; Gilbert, D. J.; Copeland, N. G.; Jenkins, N. A.; Donovan, P. J.: Chromosome localization of two new mammalian kinases related to yeast and fly chromosome segregation-regulators. Mammalian Genome 9: 86-96, 1998.
[0012168]2756.Kajihara, S.; Hisatomi, A.; Mizuta, T.; Hara, T.; Ozaki, I.; Wada, I.; Yamamoto, K.: A splice mutation in the human canalicular multispecific organic anion transporter gene causes Dubin-Johnson syndrome. Biochem. Biophys. Res. Commun. 253: 454-457, 1998.
[0012169]2757.Paulusma, C. C.; Bosma, P. J.; Zaman, G. J. R.; Bakker, C. T. M.; Otter, M.; Scheffer, G. L.; Scheper, R. J.; Borst, P.; Oude Elferink, R. P. J.: Congenital jaundice in rats with a mutation in a multidrug resistance-associated protein gene. Science 271: 1126-1128, 1996.
[0012170]2758.Taniguchi, K.; Wada, M.; Kohno, K.; Nakamura, T.; Kawabe, T.; Kawakami, M.; Kagotani, K.; Okumura, K.; Akiyama, S.; Kuwano, M.: A human canalicular multispecific organic anion transporter (cMOAT) gene is overexpressed in cisplatin-resistant human cancer cell lines with decreased drug accumulation. Cancer Res. 56: 4124-4129, 1996.
[0012171]2759.Toh, S.; Wada, M.; Uchiumi, T.; Inokuchi, A.; Makino, Y.; Horie, Y.; Adachi, Y.; Sakisaka, S.; Kuwano, M.: Genomic structure of the canalicular multispecific organic anion-transporter gene (MRP2/cMOAT) and mutations in the ATP-binding-cassette region in Dubin-Johnson syndrome. Am. J. Hum. Genet. 64: 739-746, 1999.
[0012172]2760.Zimniak, P.: Dubin-Johnson and Rotor syndromes: molecular basis and pathogenesis. Semin. Liver Dis.. 13: 248-260, 1993.
[0012173]2761.Nolan, K. F.; Greaves, D. R.; Waldmann, H.: The human interleukin 18 gene IL18 maps to 11q22.2-q22.3, closely linked to the DRD2 gene locus and distinct from mapped IDDM loci. Genomics 51: 161-163, 1998.
[0012174]2762.Okamoto, I.; Kohno, K.; Tanimoto, T.; Iwaki, K.; Ishihara, T.; Akamatsu, S.; Ikegami, H.; Kurimoto, M.: IL-18 prevents the development of chronic graft-versus-host disease in mice. J. Immun. 164: 6067-6074, 2000.
[0012175]2763.Okamura, H.; Tsutsui, H.; Komatsu, T.; Yutsudo, M.; Hakura, A.; Tanimoto, T.; Torigoe, K.; Okura, T.; Nukada, Y.; Hattori, K.; Akita, K.; Namba, M.; Tanabe, F.; Konishi, K.; Fukuda, S.; Kurimoto, M.: Cloning of a new cytokine that induces IFN-gamma production by T cells. Nature 378: 88-91, 1995.
[0012176]2764.Reddy, P.; Teshima, T.; Kukuruga, M.; Ordemann, R.; Liu, C.; Lowler, K.; Ferrara, J. L. M.: Interleukin-18 regulates acute graft-versus-host disease by enhancing Fas-mediated donor T cell apoptosis. J. Exp. Med. 194: 1433-1440, 2001.
[0012177]2765.Rothe, H.; Jenkins, N. A.; Copeland, N. G.; Kolb, H.: Active stage of autoimmune diabetes is associated with the expression of a novel cytokine, IGIF, which is located near Idd2. J. Clin. Invest. 99: 469-474, 1997.
[0012178]2766.Sarvetnick, N.: IFN-gamma, IGIF, and IDDM. (Editorial) J. Clin. Invest. 99: 371-372, 1997.
[0012179]2767.Shida, K.; Shiratori, I.; Matsumoto, M.; Fukumori, Y.; Matsuhisa, A.; Kikkawa, S.; Tsuji, S.; Okamura, H.; Toyoshima, K.; Seya, T.: An alternative form of IL-18 in human blood plasma: complex formation with IgM defined by monoclonal antibodies. J. Immun. 166: 6671-6679, 2001.
[0012180]2768.Zhao, J.; Dynlacht, B.; Imai, T.; Hori, T.; Harlow, E.: Expression of NPAT, a novel substrate of cyclin E-CDK2, promotes S-phase entry. Genes Dev. 12: 456-461, 1998.
[0012181]2769.Margolis, R. L.; Stine, O. C.; McInnis, M. G.; Ranen, N. G.; Rubinsztein, D. C.; Leggo, J.; Brando, L. V. J.; Kidwai, A. S.; Loev, S. J.; Breschel, T. S.; Callahan, C.; Simpson, S. G.; and 12 others: cDNA cloning of a human homologue of the Caenorhabditis elegans cell fate-determining gene mab-21: expression, chromosomal localization and analysis of a highly polymorphic (CAG)n trinucleotide repeat. Hum. Molec. Genet. 5: 607-616, 1996.
[0012182]2770.Margolis, R. L.; Stine, O. C.; Ward, C. M.; Franz, M. L.; Rosenblatt, A.; Callahan, C.; Sherr, M.; Ross, C. A.; Potter, N. T.: Unstable expansion of the CAG trinucleotide repeat in MAB21L1: report of a second pedigree and effect on protein expression. J. Med. Genet. 36: 62-64, 1999.
[0012183]2771.Mariani, M.; Baldessari, D.; Francisconi, S.; Viggiano, L.; Rocchi, M.; Zappavigna, V.; Malgaretti, N.; Consalez, G. G.: Two murine and human homologs of mab-21, a cell fate determination gene involved in Caenorhabditis elegans neural development. Hum. Molec. Genet. 8: 2397-2406, 1999.
[0012184]2772.Potter, N. T.: Meiotic instability associated with the CAGR1 trinucleotide repeat at 13q13. J. Med. Genet. 34: 411-413, 1997.
[0012185]2773.Altshuler, D.; Daly, M.; Kruglyak, L.: Guilt by association. Nature Genet. 26: 135-137, 2000.
[0012186]2774.Cox, N. J.: Challenges in identifying genetic variation affecting susceptibility to type 2 diabetes: examples from studies of the calpain-10 gene. Hum. Molec. Genet. 10: 2301-2305, 2001.
[0012187]2775.Horikawa, Y.; Oda, N.; Cox, N. J.; Li, X.; Orho-Melander, M.; Hara, M.; Hinokio, Y.; Lindner, T. H.; Mashima, H.; Schwarz, P. E. H.; del Bosque-Plata, L.; Horikawa, Y.; and 14 others: Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus. Nature Genet. 26: 163-175, 2000.
[0012188]2776.Futreal, P. A.; Cochran, C.; Rosenthal, J.; Miki, Y.; Swenson, J.; Hobbs, M.; Bennett, L. M.; Haugen-Strano, A.; Marks, J.; Barrett, J. C.; Tavtigian, S. V.; Shattuck-Eidens, D.; Kamb, A.; Skolnick, M.; Wiseman, R. W.: Isolation of a diverged homeobox gene, MOX1, from the BRCA1 region on 17q21 by solution hybrid capture. Hum. Molec. Genet. 3: 1359-1364, 1994.
[0012189]2777.Jones, K. A.; Black, D. M.; Brown, M. A.; Griffiths, B. L.; Nicolai, H. M.; Chambers, J. A.; Bonjardim, M.; Xu, C.-F.; Boyd, M.; McFarlane, R.; Korn, B.; Poustka, A.; North, M. A.; Schalkwyk, L.; Lehrach, H.; Solomon, E.: The detailed characterisation of a 400 kb cosmid walk in the BRCA1 region: identification and localisation of 10 genes including a dual-specificity phosphatase. Hum. Molec. Genet. 3: 1927-1934, 1994.
[0012190]2778.Horton, Y. M.; Sullivan, M.; Houslay, M. D.: Molecular cloning of a novel splice variant of human type IVA (PDE-IVA) cyclic AMP phosphodiesterase and localization of the gene to the p13.2-q12 region of human chromosome 19. Biochem. J. 308: 683-691, 1995.
[0012191]2779.Huston, E.; Pooley, L.; Julien, P.; Scotland, G.; McPhee, I.; Sullivan, M.; Bolger, G.; Houslay, M. D.: The human cyclic AMP-specific phosphodiesterase PDE-46 (HSPDE4A4B) expressed in transfected COS7 cells occurs as both particulate and cytosolic species that exhibit distinct kinetics of inhibition by the antidepressant rolipram. J. Biol. Chem. 271: 31334-31344, 1996.
[0012192]2780.Livi, G. P.; Kmetz, P.; McHale, M. M.; Cieslinski, L. B.; Sathe, G. M.; Taylor, D. P.; Davis, R. L.; Torphy, T. J.; Balcarek, J. M. : Cloning and expression of cDNA for a human low-K(m), rolipram-sensitive cyclic AMP phosphodiesterase. Molec. Cell. Biol. 10: 2678-2686, 1990.
[0012193]2781.Obernolte, R.; Bhakta, S.; Alvarez, R.; Bach, C.; Zuppan, P.; Mulkins, M.; Jarnagin, K.; Shelton, E. R.: The cDNA of a human lymphocyte cyclic-AMP phosphodiesterase (PDE IV) reveals a multigene family. Gene 129: 239-247, 1993.
[0012194]2782.Sullivan, M.; Egerton, M.; Shakur, Y.; Marquardsen, A.; Houslay, M. D.: Molecular cloning and expression, in both COS-1 cells and S. cerevisiae, of a human cytosolic type-IVA, cyclic AMP specific phosphodiesterase (hPDE-IVA-h6.1). Cell. Signal. 6: 793-812, 1994.
[0012195]2783.Sullivan, M.; Rena, G.; Begg, F.; Gordon, L.; Olsen, A. S.; Houslay, M. D.: Identification and characterization of the human homologue of the short PDE4A cAMP-specific phosphodiesterase RD1 (PDE4A1) by analysis of the human HSPDE4A gene locus located at chromosome 19p13.2. Biochem. J. 333: 693-703, 1998.
[0012196]2784.Wilson, M.; Sullivan, M.; Brown, N.; Houslay, M. D.: Purification, characterization and analysis of rolipram inhibition of a human-type IVA cyclic AMP-specific phosphodiesterase expressed in yeast. Biochem. J. 304: 407-415, 1994.
[0012197]2785.Huston, E.; Lumb, S.; Russell, A.; Catterall, C.; Ross, A. H.; Steele, M. R.; Bolger, G. B.; Perry, M. J.; Owens, R. J.; Houslay, M. D.: Molecular cloning and transient expression in COS7 cells of a novel human PDE4B cAMP-specific phosphodiesterase, HSPDE4B3. Biochem. J. 328: 549-558, 1997.
[0012198]2786.Szpirer, C.; Szpirer, J.; Riviere, M.; Swinnen, J.; Vicini, E.; Conti, M.: Chromosomal localization of the human and rat genes (PDE4D and PDE4B) encoding the cAMP-specific phosphodiesterases 3 and 4. Cytogenet. Cell Genet. 69: 11-14, 1995.
[0012199]2787.Xu, R. X.; Hassell, A. M.; Vanderwall, D.; Lambert, M. H.; Holmes, W. D.; Luther, M. A.; Rocque, W. J.; Milburn, M. V.; Zhao, Y.; Ke, H.; Nolte, R. T.: Atomic structure of PDE4: insights into phosphodiesterase mechanism and specificity. Science 288: 1822-1825, 2000.
[0012200]2788.Bolger, G. B.; Erdogan, S.; Jones, R. E.; Loughney, K.; Scotland, G.; Hoffmann, R.; Wilkinson, I.; Farrell, C.; Houslay, M. D.: Characterization of five different proteins produced by alternatively spliced mRNAs from the human cAMP-specific phosphodiesterase PDE4D gene. Biochem. J. 328: 539-548, 1997.
[0012201]2789.Dudai, Y.; Jan, Y.-N.; Byers, D.; Quinn, W. G.; Benzer, S.: dunce, a mutant of Drosophila deficient in learning. Proc. Nat. Acad. Sci. 73: 1684-1688, 1976.
[0012202]2790.Hansen, G.; Jin, S.-L. C.; Umetsu, D. T.; Conti, M.: Absence of muscarinic cholinergic airway responses in mice deficient in the cyclic nucleotide phosphodiesterase PDE4D. Proc. Nat. Acad. Sci. 97: 6751-6756, 2000.
[0012203]2791.Jin, S.-L. C.; Richard, F. J.; Kuo, W.-P.; D'Ercole, A. J.; Conti, M.: Impaired growth and fertility of cAMP-specific phosphodiesterase PDE4D-deficient mice. Proc. Nat. Acad. Sci. 96: 11998-12003, 1999.
[0012204]2792.Partanen, J.; Armstrong, E.; Makela, T. P.; Korhonen, J.; Sandberg, M.; Renkonen, R.; Knuutila, S.; Huebner, K.; Alitalo, K.: A novel endothelial cell surface receptor tyrosine kinase with extracellular epidermal growth factor homology domains. Molec. Cell. Biol. 12: 1698-1707, 1992.
[0012205]2793.Ramsden, J. D.; Cocks, H. C.; Shams, M.; Nijjar, S.; Watkinson, J. C.; Sheppard, M. C.; Ahmed, A.; Eggo, M. C.: Tie-2 is expressed on thyroid follicular cells, is increased in goiter, and is regulated by thyrotropin through cyclic adenosine 3-prime,5-prime-monophosphate. J. Clin. Endocr. Metab. 86: 2709-2716, 2001.
[0012206]2794.Zhao, J.; Kennedy, B. K.; Lawrence, B. D.; Barbie, D. A.; Matera, A. G.; Fletcher, J. A.; Harlow, E.: NPAT links cyclin E-Cdk2 to the regulation of replication-dependent histone gene transcription. Genes Dev. 14: 2283-2297, 2000.
[0012207]2795.Kalaydjieva, L.; Gresham, D.; Gooding, R.; Heather, L.; Baas, F.; de Jonge, R.; Blechschmidt, K.; Angelicheva, D.; Chandler, D.; Worsley, P.; Rosenthal, A.; King, R. H. M.; Thomas, P. K.: N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom. Am. J. Hum. Genet. 67: 47-58, 2000.
[0012208]2796.Kalaydjieva, L.; Hallmayer, J.; Chandler, D.; Savov, A.; Nikolova, A.; Angelicheva, D.; King, R. H. H.; Ishpekova, B.; Honeyman, K.; Calafell, F.; Shmarov, A.; Petrova, J.; Turnev, I.; Hristova, A.; Moskov, M.; Stancheva, S.; Petkova, I.; Bittles, A. H.; Georgieva, V.; Middleton, L.; Thomas, P. K.: Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24. Nature Genet. 14: 214-217, 1996.
[0012209]2797.Tsujikawa, M.; Kurahashi, H.; Tanaka, T.; Okada, M.; Yamamoto, S.; Maeda, N.; Watanabe, H.; Inoue, Y.; Kiridoshi, A.; Matsumoto, K.; Ohashi, Y.; Kinoshita, S.; Shimomura, Y.; Nakamura, Y.; Tano, Y.: Homozygosity mapping of a gene responsible for gelatinous drop-like corneal dystrophy to chromosome 1p. Am. J. Hum. Genet. 63: 1073-1077, 1998.
[0012210]2798.Yamamoto, S.; Okada, M.; Tsujikawa, M.; Shimomura, Y.; Nishida, K.; Inoue, Y.; Watanabe, H.; Maeda, N.; Kurahashi, H.; Kinoshita, S.; Nakamura, Y.; Tano, Y.: A kerato-epithelin (beta-ig-h3) mutation in lattice corneal dystrophy type IIIA. (Letter) Am. J. Hum. Genet. 62: 719-722, 1998.
[0012211]2799.FitzGerald, M. G.; MacDonald, D. J.; Krainer, M.; Hoover, I.; O'Neil, E.; Unsal, H.; Silva-Arrieto, S.; Finkelstein, D. M.; Beer-Romero, P.; Englert, C.; Sgroi, D. C.; Smith, B. L.; Younger, J. W.; Garber, J. E.; Duda, R. B.; Mayzel, K. A.; Isselbacher, K. J.; Friend, S. H.; Haber, D. A.: Germ-line BRCA1 mutations in Jewish and non-Jewish women with early-onset breast cancer. New Eng. J. Med. 334: 143-149, 1996.
[0012212]2800.Franceschi, S.; Parazzini, F.; Negri, E.; Booth, M.; La Vecchia, C.; Beral, V.; Tzonov, A.; Trichopoulos, D.: Pooled analysis of 3 European case-control studies of epithelial ovarian cancer. III. Oral contraceptive use. Int. J. Cancer 49: 61-65, 1991.
[0012213]2801.Friedman, E.; Bar-Sade, R. B.; Kruglikova, A.; Risel, S.; Levy-Lahad, E.; Halle, D.; Bar-On, E.; Gershoni-Baruch, R.; Dagan, E.; Kepten, I.; Peretz, T.; Lerer, I.; Wienberg, N.; Shushan, A.; Abeliovich, D.: Double heterozygotes for the Ashkenazi founder mutations in BRCA1 and BRCA2 genes. (Letter) Am. J. Hum. Genet. 63: 1224-1227, 1998.
[0012214]2802.Friedman, L. S.; Gayther, S. A.; Kurosaki, T.; Gordon, D.; Noble, B.; Casey, G.; Ponder, B. A. J.; Anton-Culver, H.: Mutation analysis of BRCA1 and BRCA2 in a male breast cancer population. Am. J. Hum. Genet. 60: 313-319, 1997.
[0012215]2803.Friedman, L. S.; Ostermeyer, E. A.; Szabo, C. I.; Dowd, P.; Lynch, E. D.; Rowell, S. E.; King, M.-C.: Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families. Nature Genet. 8: 399-404, 1994.
[0012216]2804.Friedman, L. S.; Szabo, C. I.; Ostermeyer, E. A.; Dowd, P.; Butler, L.; Park, T.; Lee, M. K.; Goode, E. L.; Rowell, S. E.; King, M.-C. : Novel inherited mutations and variable expressivity of BRCA1 alleles, including the founder mutation 185delAG in Ashkenazi Jewish families. Am. J. Hum. Genet. 57: 1284-1297, 1995.
[0012217]2805.Futreal, P. A.; Liu, Q.; Shattuck-Eidens, D.; Cochran, C.; Harshman, K.; Tavtigian, S.; Bennett, L. M.; Haugen-Strano, A.; Swensen, J.; Miki, Y.; Eddington, K.; McClure, M.; and 15 others: BRCA1 mutation in primary breast and ovarian carcinomas. Science 266: 120-122, 1994.
[0012218]2806.Gayther, S. A.; Harrington, P.; Russell, P.; Kharkevich, G.; Garkavtseva, R. F.; Ponder, B. A. J.: Frequently occurring germ-line mutations of the BRCA1 gene in ovarian cancer families from Russia. (Letter) Am. J. Hum. Genet. 60: 1239-1242, 1997.
[0012219]2807.Gayther, S. A.; Harrington, P.; Russell, P.; Kharkevich, G.; Garkavtseva, R. F.; Ponder, B. A. J.; UKCCCR Familial Ovarian Cancer Study Group : Rapid detection of regionally clustered germline BRCA1 mutations by multiplex heteroduplex analysis. Am. J. Hum. Genet. 58: 451-456, 1996.
[0012220]2808.Gayther, S. A.; Warren, W.; Mazoyer, S.; Russell, P. A.; Harrington, P. A.; Chiano, M.; Seal, S.; Hamoudi, R.; van Rensburg, E. J.; Dunning, A. M.; Love, R.; Evans, G.; Easton, D.; Clayton, D.; Stratton, M. R.; Ponder, B. A. J.: Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype-phenotype correlation. Nature Genet. 11: 428-433, 1995.
[0012221]2809.Goldgar, D. E.; Fields, P.; Lewis, C. M.; Cannon-Albright, L. A.; Linker, G.; Tran, T.; Skolnick, M.: A large kindred with 17q-linked susceptibility to breast and ovarian cancer: relationship between genotype and phenotype. (Abstract) Am. J. Hum. Genet. 51 (suppl.): A27, 1992.
[0012222]2810.Goldgar, D. E.; Reilly, P. R.: A common BRCA1 mutation in the Ashkenazim. Nature Genet. 11: 113-114, 1995.
[0012223]2811.Gorski, B.; Byrski, T.; Huzarski, T.; Jakubowska, A.; Menkiszak, J.; Gronwald, J.; Pluzanska, A.; Bebenek, M.; Fischer-Maliszewska, L.; Grzybowska, E.; Narod, S. A.; Lubinski, J.: Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. Am. J. Hum. Genet. 66: 1963-1968, 2000.
[0012224]2812.Gowen, L. C.; Avrutskaya, A. V.; Latour, A. M.; Koller, B. H.; Leadon, S. A.: BRCA1 required for transcription-coupled repair of oxidative DNA damage. Science 281: 1009-1012, 1998.
[0012225]2813.Gowen, L. C.; Johnson, B. L.; Latour, A. M.; Sulik, K. K.; Koller, B. H.: Brca1 deficiency results in early embryonic lethality characterized by neuroepithelial abnormalities. Nature Genet. 12: 191-194, 1996.
[0012226]2814.Hacia, J. G.; Brody, L. C.; Chee, M. S.; Fodor, S. P. A.; Collins, F. S.: Detection of heterozygous mutations in BRCA1 using high density oligonucleotide arrays and two-colour fluorescence analysis. Nature Genet. 14: 441-447, 1996.
[0012227]2815.Hakem, R.; de la Pompa, J. L.; Elia, A.; Potter, J.; Mak, T. W. : Partial rescue of Brca1(5-6) early embryonic lethality by p53 or p21 null mutation. Nature Genet. 16: 298-302, 1997.
[0012228]2816.Hakem, R.; de la Pompa, J. L.; Sirard, C.; Mo, R.; Woo, M.; Hakem, A.; Wakeham, A.; Potter, J.; Reitmair, A.; Billia, F.; Firpo, E.; Hui, C. C.; Roberts, J.; Rossant, J.; Mak, T. W.: The tumor suppressor gene Brca1 is required for embryonic cellular proliferation in the mouse. Cell 85: 1009-1023, 1996.
[0012229]2817.Hall, J. M.; Friedman, L.; Guenther, C.; Lee, M. K.; Weber, J. L.; Black, D. M.; King, M.-C.: Closing in on a breast cancer gene on chromosome 17q. Am. J. Hum. Genet. 50: 1235-1242, 1992.
[0012230]2818.Berkvens, T. M.; van Ormondt, H.; Gerritsen, E. J. A.; Meera Khan, P.; van der Eb, A. J.: Identical 3250-bp deletion between two AluI repeats in the ADA genes of unrelated ADA-SCID patients. Genomics 7: 486-490, 1990.
[0012231]2819.Peng, Z. G.; Calvert, I.; Clark, J.; Helman, L.; Kahn, R.; Kung, H. F.: Molecular cloning, sequence analysis and mRNA expression of human ADP-ribosylation factor. Biofactors 2: 45-49, 1989.
[0012232]2820.Sanford, J. P.; Eddy, R. L.; Doyle, D.; Shows, T. B.: Assignment of human asialoglycoprotein receptor gene (ASGR1) to chromosome 17p11-13. Genomics 11: 779-781, 1991.
[0012233]2821.Wulczyn, F. G.; Naumann, M.; Scheidereit, C.: Candidate proto-oncogene bcl-3 encodes a subunit-specific inhibitor of transcription factor NF-kappa-B. Nature 358: 597-599, 1992.
[0012234]2822.Falk, C. T.: New family data supporting the MN/GC linkage. (Abstract) Cytogenet. Cell Genet. 37: 466, 1984.
[0012235]2823.Hogan, K.: To fire the train: a second malignant-hyperthermia gene. (Editorial) Am. J. Hum. Genet. 1303-1308, 1997.
[0012236]2824.Monnier, N.; Procaccio, V.; Stieglitz, P.; Lunardi, J.: Malignant-hyperthermia susceptibility is associated with a mutation of the alpha-1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle. Am. J. Hum. Genet. 60: 1316-1325, 1997.
[0012237]2825.Sanford, J. P.; Elliott, R. W.; Doyle, D.: Asialoglycoprotein receptor genes are linked on chromosome 11 in the mouse. DNA 7: 721-728, 1988.
[0012238]2826.Spiess, M.; Schwartz, A. L.; Lodish, H. F.: Sequence of human asialoglycoprotein receptor cDNA: an internal signal sequence for membrane insertion. J. Biol. Chem. 260: 1979-1982, 1985.
[0012239]2827.Spiess, M.; Lodish, H. F.: Sequence of a second human asialoglycoprotein receptor: conservation of two receptor genes during evolution. Proc. Nat. Acad. Sci. 82: 6465-6469, 1985.
[0012240]2828.Arfin, S. M.; Cirullo, R. E.; Arredondo-Vega, F. X.; Smith, M. : Assignment of the structural gene for asparagine synthetase to human chromosome 7. Somat. Cell Genet. 9: 517-531, 1983.
[0012241]2829.Greco, A.; Ittmann, M.; Basilico, C.: Molecular cloning of a gene that is necessary for G(1) progression in mammalian cells. Proc. Nat. Acad. Sci. 84: 1565-1569, 1987.
[0012242]2830.Heng, H. H. Q.; Shi, X.-M.; Scherer, S. W.; Andrulis, I. L.; Tsui, L.-C.: Refined localization of the asparagine synthetase gene (ASNS) to chromosome 7, region q21.3, and characterization of the somatic cell hybrid line 4AF/106/KO15. Cytogenet. Cell Genet. 66: 135-138, 1994.
[0012243]2831.Lambert, M. A.; Cairney, A. E. L.; Ray, P. N.; Weksberg, R.; Andrulis, I. L.: Genomic characterization of the human asparagine synthetase gene. (Abstract) Am. J. Hum. Genet. 39: A207 only, 1986.
[0012244]2832.Zhang, Y. P.; Lambert, M. A.; Cairney, A. E. L.; Wills, D.; Ray, P. N.; Andrulis, I. L.: Molecular structure of the human asparagine synthetase gene. Genomics 4: 259-265, 1989.
[0012245]2833.Cirullo, R. E.; Arredondo-Vega, F. X.; Smith, M.; Wasmuth, J. J. : Isolation and characterization of interspecific heat-resistant hybrids between a temperature-sensitive Chinese hamster cell asparaginyl-tRNA synthetase mutant and normal human leukocytes: assignment of human asnS gene to chromosome 18. Somat. Cell Genet. 9: 215-233, 1983.
[0012246]2834.Shows, T. B.: Personal Communication. Buffalo, N. Y. 1/11/1983.
[0012247]2835.Akasaka, T.; Miura, I.; Takahashi, N.; Akasaka, H.; Yonetani, N.; Ohno, H.; Fukuhara, S.; Okuma, M.: A recurring translocation, t(3;6)(q27;p21), in non-Hodgkin's lymphoma results in replacement of the 5-prime regulatory region of BCL6 with a novel H4 histone gene. Cancer Res. 57: 7-12, 1997.
[0012248]2836.Baron, B. W.; Nucifora, G.; McCabe, N.; Espinosa, R., III; Le Beau, M. M.; McKeithan, T. W.: Identification of the gene associated with the recurring chromosomal translocations t(3;14)(q27;q32) and t(3;22)(q27;q11) in B-cell lymphomas. Proc. Nat. Acad. Sci. 90: 5262-5266, 1993.
[0012249]2837.Capello, D.; Carbone, A.; Pastore, C.; Gloghini, A.; Saglio, G.; Gaidano, G.: Point mutations of the BCL-6 gene in Burkitt's syndrome. Brit. J. Haemat. 99: 168-170, 1997.
[0012250]2838.Cattoretti, G.; Chang, C.-C.; Cechova, K.; Zhang, J.; Ye, B. H.; Falini, B.; Louie, D. C.; Offit, K.; Chaganti, R. S. K.; Dalla-Favera, R.: BCL-6 protein is expressed in germinal-center B cells. Blood 86: 45-53, 1995.
[0012251]2839.Cesarman, E.; Chadburn, A.; Liu, Y.-F.; Migliazza, A.; Dalla-Favera, R.; Knowles, D. M.: BCL-6 gene mutations in posttransplantation lymphoproliferative disorders predict response to therapy and clinical outcome. Blood 92: 2294-2302, 1998.
[0012252]2840.Chaganti, S. R.; Chen, W.; Parsa, N.; Offit, K.; Louie, D. C.; Dalla-Favera, R.; Chaganti, R. S. K.: Involvement of BCL6 in chromosomal aberrations affecting band 3q27 in B-cell non-Hodgkin lymphoma. Genes Chromosomes Cancer 23: 323-327, 1998.
[0012253]2841.Chaganti, S. R.; Rao, P. H.; Chen, W.; Dyomin, V.; Jhanwar, S. C.; Parsa, N. Z.; Dalla-Favera, R.; Chaganti, R. S. K.: Deregulation of BCL6 in non-Hodgkin lymphoma by insertion of IGH sequences in complex translocations involving band 3q27. Genes Chromosomes Cancer 23: 328-336, 1998.
[0012254]2842.Chang, C.-C.; Ye, B. H.; Chaganti, R. S. K.; Dalla-Favera, R.: BCL-6, a POZ/zincfinger protein, is a sequence-specific transcriptional repressor. Proc. Nat. Acad. Sci. 93: 6947-6952, 1996.
[0012255]2843.Dhordain, P.; Albagli, O.; Honore, N.; Guidez, F.; Lantoine, D.; Schmid, M.; De The, H.; Zelent, A.; Koken, M. H. M.: Colocalization and heteromerization between the two human oncogene POZ/zinc finger proteins, LAZ3 (BCL6) and PLZF. Oncogene 19: 6240-6250, 2000.
[0012256]2844.Gaidano, G.; Capello, D.; Gloghini, A.; Fassone, L.; Vivenza, D.; Ariatti, C.; Migliazza, A.; Saglio, G.; Carbone, A.: Frequent mutation of bcl-6 proto-oncogene in high grade, but not low grade, MALT lymphomas of the gastrointestinal tract. Haematologica 84: 582-588, 1999.
[0012257]2845.Hamblin, T. J.; Davis, Z.; Gardiner, A.; Oscier, D. G.; Stevenson, F. K.: Unmutated Ig V(H) genes are associated with a more aggressive form of chronic lymphocytic leukemia. Blood 94: 1848-1854, 1999.
[0012258]2846.Hosokawa, Y.; Maeda, Y.; Ichinohasama, R.; Miura, I.; Taniwaki, M.; Seto, M.: The Ikaros gene, a central regulator of lymphoid differentiation, fuses to the BCL6 gene as a result of t(3;7)(q27;p12) translocation in a patient with diffuse large B-cell lymphoma. Blood 95: 2719-2721, 2000.
[0012259]2847.Ichii, H.; Sakamoto, A.; Hatano, M.; Okada, S.; Toyama, H.; Taki, S.; Arima, M.; Kuroda, Y.; Tokuhisa, T.: Role of Bcl-6 in the generation and maintenance of memory CD8+ T cells. Nature Immun. 3: 558-563, 2002.
[0012260]2848.Ichinohasama, R.; Miura, I.; Funato, T.; Sato, I.; Suzuki, C.; Saito, Y.; Decoteau, J. F.; Myers, J. B.; Kadin, M. E.; Sawai, T.; Ooya, K.: A recurrent nonrandom translocation (3;7)(q27;p12) associated with BCL-6 gene rearrangement in B-cell diffuse large cell lymphoma. Cancer Genet. Cytogenet. 104: 19-27, 1998.
[0012261]2849.Kerckaert, J.-P.; Deweindt, C.; Tilly, H.; Quief, S.; Lecocq, G.; Bastard, C.: LAZ3, a novel zinc-finger encoding gene, is disrupted by recurring chromosome 3q27 translocations in human lymphomas. Nature Genet. 5: 66-70, 1993.
[0012262]2850.Liao, X.; Gilbert, D. J.; Dent, A.; Staudt, L. M.; Jenkins, N. A.; Copeland, N. G.: Mapping of the mouse Bcl6 gene to chromosome 16. Mammalian Genome 7: 621-622, 1996.
[0012263]2851.Migliazza, A.; Martinotti, S.; Chen, W.; Fusco, C.; Ye, B. H.; Knowles, D. M.; Offit, K.; Changanti, R. S. K.; Dalla-Favera, R.: Frequent somatic hypermutation of the 5-prime noncoding region of the BCL6 gene in B-cell lymphoma. Proc. Nat. Acad. Sci. 92: 12520-12524, 1995.
[0012264]2852.Miki, T.; Kawamata, N.; Hirosawa, S.; Aoki, N.: Gene involved in the 3q27 translocation associated with B-cell lymphoma, BCL5, encodes a Kruppel-like zinc-finger protein. Blood 83: 26-32, 1994.
[0012265]2853.Sahota, S. S.; Davis, Z.; Hamblin, T. J.; Stevenson, F. K.: Somatic mutation of bcl-6 genes can occur in the absence of V-H mutations in chronic lymphocytic leukemia. Blood 95: 3534-3540, 2000.
[0012266]2854.Shaffer, A. L.; Yu, X.; He, Y.; Boldrick, J.; Chan, E. P.; Staudt, L. M.: BCL-6 represses genes that function in lymphocyte differentiation, inflammation, and cell cycle control. Immunity 13: 199-212, 2000.
[0012267]2855.Shen, H. M.; Peters, A.; Baron, B.; Zhu, X.; Storb, U.: Mutation of BCL-6 gene in normal B cells by the process of somatic hypermutation of Ig genes. Science 280: 1750-1752, 1998.
[0012268]2856.Ueda, C.; Akasaka, T.; Kurata, M.; Maesako, Y.; Nishikori, M.; Ichinohasama, R.; Imada, K.; Uchiyama, T.; Ohno, H.: The gene for interleukin-21 receptor is the partner of BCL6 in t(13;16)(q27;p11), which is recurrently observed in diffuse large B-cell lymphoma. Oncogene 21: 368-376, 2002.
[0012269]2857.Ye, B. H.; Cattoretti, G.; Shen, Q.; Zhang, J.; Hawe, N.; de Waard, R.; Leung, C.; Nouri-Shirazi, M.; Orazi, A.; Chaganti, R. S. K.; Rothman, P.; Stall, A. M.; Pandolfi, P.-P.; Dalla-Favera, R.: The BCL-6 proto-oncogene controls germinal-centre formation and Th2-type inflammation. Nature Genet. 16: 161-170, 1997.
[0012270]2858.Ye, B. H.; Lista, F.; Lo Coco, F.; Knowles, D. M.; Offit, K.; Chaganti, R. S. K.; Dalla-Favera, R.: Alterations of a zinc finger-encoding gene, BCL-6, in diffuse large-cell lymphoma. Science 262: 747-750, 1993.
[0012271]2859.Ye, B. H.; Rao, P. H.; Chaganti, R. S. K.; Dalla-Favera, R.: Cloning of bcl-6, the locus involved in chromosome translocations affecting band 3q27 in B-cell lymphoma. Cancer Res. 53: 2732-2735, 1993.
[0012272]2860.Rimokh, R.; Rouault, J. P.; Wahbi, K.; Gadoux, M.; Lafage, M.; Archimbaud, E.; Charrin, C.; Gentilhomme, O.; Germain, D.; Samarut, J.; Magaud, J. P.: A chromosome 12 coding region is juxtaposed to the MYC protooncogene locus in a t(8;12)(q24;q22) translocation in a case of B-cell chronic lymphocytic leukemia. Genes Chromosomes Cancer 3: 24-36, 1991.
[0012273]2861.Gejman, P. V.; Weinstein, L. S.; Martinez, M.; Spiegel, A. M.; Cao, Q.; Hsieh, W.-T.; Hoehe, M. R.; Gershon, E. S.: Genetic mapping of the Gs-alpha subunit gene (GNAS1) to the distal long arm of chromosome 20 using a polymorphism detected by denaturing gradient gel electrophoresis. Genomics 9: 782-783, 1991.
[0012274]2862.Fragoso, M. C. B. V.; Latronico, A. C.; Carvalho, F. M.; Zerbini, M. C. N.; Marcondes, J. A. M.; Araujo, L. M. B.; Lando, V. S.; Frazzatto, E. T.; Mendonca, B. B.; Villares, S. M. F.: Activating mutation of the stimulatory G protein (gsp) as a putative cause of ovarian and testicular human stromal Leydig cell tumors. J. Clin. Endocr. Metab. 83: 2074-2078, 1998.
[0012275]2863.Gopal Rao, V. V. N.; Schnittger, S.; Hansmann, I.: G protein Gs-alpha (GNAS1), the probable candidate gene for Albright hereditary osteodystrophy, is assigned to human chromosome 20q12-q13.2. Genomics 10: 257-261, 1991.
[0012276]2864.Gorelov, V. N.; Dumon, K.; Barteneva, N. S.; Palm, D.; Roher, H.-D.; Goretzki, P. E.: Overexpression of Gs-alpha subunit in thyroid tumors bearing a mutated Gs-alpha gene. J. Cancer Res. Clin. Oncol. 121: 219-224, 1995.
[0012277]2865.Happle, R.: The McCune-Albright syndrome: a lethal gene surviving by mosaicism. Clin. Genet. 29: 321-324, 1986.
[0012278]2866.Harris, B. A.; Robishaw, J. D.; Mumby, S. M.; Gilman, A. G.: Molecular cloning of complementary DNA for the alpha subunit of the G protein that stimulates adenylate cyclase. Science 229: 1274-1277, 1985.
[0012279]2867.Hayward, B.; Kamiya, M.; Takada, S.; Moran, V.; Strain, L.; Hayashizaki, Y.; Bonthron, D. T.: XL alpha s is a paternally derived protein product of the human GNAS1 gene. (Abstract) Europ. J. Hum. Genet. 6 (suppl. 1): 36 only, 1998.
[0012280]2868.Hayward, B. E.; Bonthron, D. T.: An imprinted antisense transcript at the human GNAS1 locus. Hum. Molec. Genet. 9: 835-841, 2000.
[0012281]2869.Hayward, B. E.; Kamiya, M.; Strain, L.; Moran, V.; Campbell, R.; Hayashizaki, Y.; Bonthron, D. T.: The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins. Proc. Nat. Acad. Sci. 95: 10038-10043, 1998.
[0012282]2870.Hayward, B. E.; Moran, V.; Strain, L.; Bonthron, D. T.: Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins. Proc. Nat. Acad. Sci. 95: 15475-15480, 1998.
[0012283]2871.Hurowitz, E. H.; Melnyk, J. M.; Chen, Y.-J.; Kouros-Mehr, H.; Simon, M. I.; Shizuya, H.: Genomic characterization of the human heterotrimeric G protein alpha, beta, and gamma subunit genes. DNA Res. 7: 111-120, 2000.
[0012284]2872.Iiri, T.; Farfel, Z.; Bourne, H. R.: Conditional activation defect of a human Gs-alpha mutant. Proc. Nat. Acad. Sci. 94: 5656-5661, 1997.
[0012285]2873.Iiri, T.; Herzmark, P.; Nakamoto, J. M.; Van Dop, C.; Bourne, H. R.: Rapid GDP release from Gs-alpha in patients with gain and loss of endocrine function. Nature 371: 164-168, 1994.
[0012286]2874.Ishikawa, Y.; Tajima, T.; Nakae, J.; Nagashima, T.; Satoh, K.; Okuhara, K.; Fujieda, K.: Two mutations of the Gs-alpha gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia. J. Hum. Genet. 46: 426-430, 2001.
[0012287]2875.Jia, H.; Hingorani, A. D.; Sharma, P.; Hopper, R.; Dickerson, C.; Trutwein, D.; Lloyd, D. D.; Brown, M. J.: Association of the G(s)-alpha gene with essential hypertension and response to betablockade. Hypertension 34: 8-14, 1999.
[0012288]2876.Kehlenbach, R. H.; Matthey, J.; Huttner, W. B.: XL alpha S is a new type of G protein. Nature 372: 804-809, 1994.
[0012289]2877.Kikyo, N.; Williamson, C. M.; John, R. M.; Barton, S. C.; Beechey, C. V.; Ball, S. T.; Cattanach, B. M.; Surani, M. A.; Peters, J.: Genetic and functional analysis of neuronatin in mice with maternal or paternal duplication of distal chr. 2. Dev. Biol. 190: 66-77, 1997.
[0012290]2878.Kinard, R. E.; Walton, J. E.; Buckwalter, J. A.: Pseudohypoparathyroidism. Arch. Intern. Med. 139: 204-207, 1979.
[0012291]2879.Kozasa, T.; Itoh, H.; Tsukamoto, T.; Kaziro, Y.: Isolation and characterization of the human Gs-alpha gene. Proc. Nat. Acad. Sci. 85: 2081-2085, 1988.
[0012292]2880.Juppner, H.; Schipani, E.; Bastepe, M.; Cole, D. E. C.; Lawson, M. L.; Mannstadt, M.; Hendy, G. N.; Plotkin, H.; Koshiyama, H.; Koh, T.; Crawford, J. D.; Olsen, B. R.; Vikkula, M.: The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3. Proc. Nat. Acad. Sci. 95: 11798-11803, 1998.
[0012293]2881.Landis, C. A.; Masters, S. B.; Spada, A.; Pace, A. M.; Bourne, H. R.; Vallar, L.: GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours. Nature 340: 692-696, 1989.
[0012294]2882.Levine, M. A.; Deily, J. R.: Identification of multiple mutations in the gene encoding the alpha subunit of Gs in patients with pseudohypoparathyroidism type IA. (Abstract) J. Bone Miner. Res. 5: S142 only, 1990.
[0012295]2883.Levine, M. A.; Modi, W. S.; O'Brien, S. J.: Mapping of the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase (GNAS1) to 20q13.2-q13.3 in human by in situ hybridization. Genomics 11: 478-479, 1991.
[0012296]2884.Levine, M. A.; Vechio, J. D.: Personal Communication. Baltimore, Md. 8/1/1990.
[0012297]2885.Lin, C. K.; Hakakha, M. J.; Nakamoto, J. M.; Englund, A. T.; Brickman, A. S.; Scott, M. L.; Van Dop, C.: Prevalence of three mutations in the Gs-alpha gene among 24 families with pseudohypoparathyroidism type Ia. Biochem. Biophys. Res. Commun. 189: 343-349, 1992.
[0012298]2886.Linglart, A.; Carel, J. C.; Garabedian, M.; Le, T.; Mallet, E.; Kottler, M. L.: GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance. J. Clin. Endocr. Metab. 87: 189-197, 2002.
[0012299]2887.Malchoff, C. D.; Reardon, G.; MacGillivray, D. C.; Yamase, H.; Rogol, A. D.; Malchoff, D. M.: An unusual presentation of McCune-Albright syndrome confirmed by an activating mutation of the Gs alpha-subunit from a bone lesion. J. Clin. Endocr. Metab. 78: 803-806, 1994.
[0012300]2888.Mantovani, G.; Romoli, R.; Weber, G.; Brunelli, V.; De Menis, E.; Beccio, S.; Beck-Peccoz, P.; Spada, A.: Mutational analysis of GNAS1 in patients with pseudohypoparathyroidism: identification of two novel mutations. J. Clin. Endocr. Metab. 85: 4243-4248, 2000.
[0012301]2889.Falk, C. T.; Martin, M. D.; Walker, M. E.; Chen, T.; Rubinstein, P.; Allen, F. H., Jr.: Family data suggesting a linkage between MN and Gc. (Abstract) Cytogenet. Cell Genet. 25: 152, 1979.
[0012302]2890.Furthmayr, H.; Metaxas, M. N.; Metaxas-Buhler, M.: M(g) and M(c): mutations within the amino-terminal region of glycophorin A. Proc. Nat. Acad. Sci. 78: 631-635, 1981.
[0012303]2891.Gedde-Dahl, T., Jr.; Olaisen, B.: MN:Ss--GC more likely than Ss:MN--GC? (Abstract) Cytogenet. Cell Genet. 32: 277-278, 1981.
[0012304]2892.German, J.; Chaganti, R. S. K.: Mapping human autosomes: assignment of the MN locus to a specific segment in the long arm of chromosome no. 2. Science 182: 1261-1262, 1973.
[0012305]2893.German, J.; Metaxas, M. N.; Metaxas-Buhler, M.; Louie, E.; Chaganti, R. S. K.: Further evaluation of a child with the M(k) phenotype and a translocation affecting the long arms of chromosomes 2 and 4. (Abstract) Cytogenet. Cell Genet. 25: 160, 1979.
[0012306]2894.German, J.; Walker, M. E.; Steifel, F. H.; Allen, F. H., Jr.: Autoradiographic studies of human chromosomes. II. Data concerning the position of the MN locus. Vox Sang. 16: 130-145, 1969.
[0012307]2895.German, J.; Walker, M. E.; Stiefel, F. H.; Allen, F. H., Jr.: MN blood-group locus: data concerning the possible chromosomal location. Science 162: 1014-1015, 1968.
[0012308]2896.Grant, S. G.; Bigbee, W. L.: Bone marrow somatic mutation after genotoxic cancer therapy. (Letter) Lancet 343: 1507-1508, 1994.
[0012309]2897.Heiberg, A.; Berg, K.: Linkage data on the MNSs blood group-red cell acid phosphatase relationship. Hum. Hered. 25: 93-94, 1975.
[0012310]2898.Huang, C.-H.; Chen, Y.; Blumenfeld, O. O.: A novel St(a) glycophorin produced via gene conversion of pseudoexon III from glycophorin E to glycophorin A gene. Hum. Mutat. 15: 533-540, 2000.
[0012311]2899.Huang, C.-H.; Guizzo, M. L.; Kikuchi, M.; Blumenfeld, O. O.: Molecular genetic analysis of a hybrid gene encoding St(a) glycophorin of the human erythrocyte membrane. Blood 74: 836-843, 1989.
[0012312]2900.Huang, C.-H.; Puglia, K. V.; Bigbee, W. L.; Guizzo, M. L.; Hoffman, M.; Blumenfeld, O. O.: A family study of multiple mutations of alpha and delta glycophorins (glycophorins A and B). Hum. Genet. 81: 26-30, 1988.
[0012313]2901.Huang, C.-H.; Reid, M.; Daniels, G.; Blumenfeld, O. O.: Alteration of splice site selection by an exon mutation in the human glycophorin A gene. J. Biol. Chem. 268: 25902-25908, 1993.
[0012314]2902.Huang, C.-H.; Spruell, P.; Moulds, J. J.; Blumenfeld, O. O.: Molecular basis for the human erythrocyte glycophorin specifying the Miltenberger class I (MiI) phenotype. Blood 80: 257-263, 1992.
[0012315]2903.Kudo, S.; Chagnovich, D.; Rearden, A.; Mattei, M. G.; Fukuda, M.: Molecular analysis of a hybrid gene encoding human glycophorin variant Miltenberger V-like molecule. J. Biol. Chem. 265: 13825-13829, 1990.
[0012316]2904.Langlois, R. G.; Bigbee, W. L.; Jensen, R. H.: Measurements of the frequency of human erythrocytes with gene expression loss phenotypes at the glycophorin A locus. Hum. Genet. 74: 353-362, 1986.
[0012317]2905.Langlois, R. G.; Bigbee, W. L.; Kyoizumi, S.; Nakamura, N.; Bean, M. A.; Akiyama, M.; Jensen, R. H.: Evidence for increased somatic cell mutations at the glycophorin A locus in atomic bomb survivors. Science 236: 445-448, 1987.
[0012318]2906.Mattei, M. G.; London, J.; Rahuel, C.; d'Auriol, L.; Colin, Y.; Le Van Kim, C.; Mattei, J. F.; Galibert, F.; Cartron, J. P.: Chromosome localization by in situ hybridization of the gene for human erythrocyte glycophorin to region 4q28-q31. (Abstract) Cytogenet. Cell Genet. 46: 658, 1987.
[0012319]2907.Mawby, W. J.; Anstee, D. J.; Tanner, M. J. A.: Immunochemical evidence for hybrid sialoglycoproteins of human erythrocytes. Nature 291: 161-162, 1981.
[0012320]2908.Okubo, Y.; Daniels, G. L.; Parsons, S. F.; Anstee, D. J.; Yamaguchi, H.; Tomita, T.; Seno, T.: A Japanese family with two sisters apparently homozygous for M(k). Vox Sang. 54: 107-111, 1988.
[0012321]2909.Onda, M.; Fukuda, M.: Detailed physical mapping of the genes encoding glycophorins A, B, and E, as revealed by P1 plasmids containing human genomic DNA. Gene 159: 225-230, 1995.
[0012322]2910.Pasvol, G.; Wainscoat, J. S.; Weatherall, D. J.: Erythrocytes deficient in glycophorin resist invasion by the malarial parasite Plasmodium falciparum. Nature 297: 64-66, 1982.
[0012323]2911.Prohaska, R.; Koerner, T. A. W., Jr.; Armitage, I. M.; Furthmayr, H.: Chemical and carbon-13 nuclear magnetic resonance studies of the blood group M and N active sialoglycopeptides from human glycophorin A. J. Biol. Chem. 256: 5781-5791, 1986.
[0012324]2912.Rahuel, C.; London, J.; d'Auriol, L.; Mattei, M.-G.; Tournamille, C.; Skrzynia, C.; Lebouc, Y.; Galibert, F.; Cartron, J.-P.: Characterization of cDNA clones for human glycophorin A: use for gene localization and for analysis of normal of glycophorin-A-deficient (Finnish type) genomic DNA. Europ. J. Biochem. 172: 147-153, 1988.
[0012325]2913.Rahuel, C.; London, J.; Vignal, A.; Cherif-Zahar, B.; Colin, Y.; Siebert, P.; Fukuda, M.; Cartron, J.-P.: Alteration of the genes for glycophorin A and B in glycophorin-A-deficient individuals. Europ. J. Biochem. 177: 605-614, 1988.
[0012326]2914.Rothman, N.; Haas, R.; Hayes, R. B.; Li, G.-L.; Wiemels, J.; Campleman, S.; Quintana, P. J. E.; Xi, L.-J.; Dosemeci, M.; Titenko-Holland, N.; Meyer, K. B.; Lu, W.; Zhang, L. P.; Bechtold, W.; Wang, Y.-Z.; Kolachana, P.; Yin, S.-N.; Blot, W.; Smith, M. T.: Benzene induces gene-duplicating but not gene-inactivating mutations at the glycophorin A locus in exposed humans. Proc. Nat. Acad. Sci. 92: 4069-4073, 1995.
[0012327]2915.Siebert, P. D.; Fukuda, M.: Isolation and characterization of human glycophorin A cDNA clones by a synthetic oligonucleotide approach: nucleotide sequence and mRNA structure. Proc. Nat. Acad. Sci. 83: 1665-1669, 1986.
[0012328]2916.Spence, M. A.; Field, L. L.; Marazita, M. L.; Joseph, J.; Sparkes, M.; Crist, M.; Crandall, B. F.; Anderson, C. E.; Bateman, J. B.; Rotter, J. I.; Kidd, K. K.; Hodge, S. E.; Sparkes, R. S.: Estimating the recombination frequency for the MN and the Ss loci. Hum. Hered. 34: 343-347, 1984.
[0012329]2917.Springer, G. F.; Tegtmeyer, H.: Further evidence that carbohydrates are the immunodeterminant structures of blood group M and N specificities. Immun. Commun. 10: 157-171, 1981.
[0012330]2918.Egan, M. F.; Goldberg, T. E.; Kolachana, B. S.; Callicott, J. H.; Mazzanti, C. M.; Straub, R. E.; Goldman, D.; Weinberger, D. R.: Effect of COMT val(108/158)met genotype on frontal lobe function and risk for schizophrenia. Proc. Nat. Acad. Sci. 98: 6917-6922, 2001.
[0012331]2919.Floderus, Y.; Iselius, L.; Lindsten, J.; Wetterberg, L.: Evidence for a major locus as well as a multifactorial component in the regulation of human red blood cell catechol-O-methyl-transferase activity. Hum. Hered. 32: 76-79, 1982.
[0012332]2920.Floderus, Y.; Wetterberg, L.: The inheritance of human erythrocyte catechol-Omethyltransferase activity. Clin. Genet. 19: 392-395, 1981.
[0012333]2921.Gogos, J. A.; Morgan, M.; Luine, V.; Santha, M.; Ogawa, S.; Pfaff, D.; Karayiorgou, M.: Catechol-0-methyltransferase-deficient mice exhibit sexually dimorphic changes in catecholamine levels and behavior. Proc. Nat. Acad. Sci. 95: 9991-9996, 1998.
[0012334]2922.Graf, W. D.; Unis, A. S.; Yates, C. M.; Sulzbacher, S.; Dinulos, M. B.; Jack, R. M.; Dugaw, K. A.; Paddock, M. N.; Parson, W. W.: Catecholamines in patients with 22q11.2 deletion syndrome and the low-activity COMT polymorphism. Neurology 57: 410-416, 2001.
[0012335]2923.Grossman, M. H.; Emanuel, B. S.; Budarf, M. L.: Chromosomal mapping of the human catechol-O-methyltransferase gene to 22q11.1-q11.2. Genomics 12: 822-825, 1992.
[0012336]2924.Grossman, M. H.; Littrell, J.; Weinstein, R.; Punnett, H. H.; Emanuel, B. S.; Budarf, M.: The gene for human catechol-O-methyltransferase (COMT) maps to 22pter-22q11.1. (Abstract) Cytogenet. Cell Genet. 58: 2048 only, 1991.
[0012337]2925.Gustavson, K. H.; Floderus, Y.; Jagell, S.; Wetterberg, L.; Ross, S. B.: Catechol-Omethyltransferase activity in erythrocytes in Down's syndrome: family studies. Clin. Genet. 22: 22-24, 1982.
[0012338]2926.Gustavson, K. H.; Wetterberg, L.; Backstrom, M.; Ross, S. B.: Catechol-Omethyltransferase activity in erythrocytes in Down's syndrome. Clin. Genet. 4: 279-280, 1973.
[0012339]2927.Hoda, F.; Nicholl, D.; Bennett, P.; Arranz, M.; Aitchison, K. J.; Al-Chalabi, A.; Kunugi, H.; Vallada, H.; Leigh, P. N.; Chaudhuri, K. R.; Collier, D. A.: No association between Parkinson's disease and low-activity alleles of catechol O-methyltransferase. Biochem. Biophys. Res. Commun. 228: 780-784, 1996.
[0012340]2928.Karayiorgou, M.; Altemus, M.; Galke, B. L.; Goldman, D. Murphy, D. L.; Ott, J.; Gogos, J. A.: Genotype determining low catechol-O-methyltransferase activity as a risk factor for obsessive-compulsive disorder. Proc. Nat. Acad. Sci. 94: 4572-4575, 1997.
[0012341]2929.Lachman, H. M.; Morrow, B.; Shprintzen, R.; Veit, S.; Parsia, S. S.; Faedda, G.; Goldberg, R.; Kucherlapati, R.; Papolos, D. F. : Association of codon 108/158 catechol-Omethyltransferase gene polymorphism with the psychiatric manifestations of velo-cardio-facial syndrome. Am. J. Med. Genet. 67: 468-472, 1996.
[0012342]2930.Levitt, M.; Baron, M.: Human erythrocyte catechol-O-transferase: variation in thermal lability. (Abstract) Sixth Int. Cong. Hum. Genet., Jerusalem 21 only, 1981.
[0012343]2931.Lundstrom, K.; Salminen, M.; Jalanko, A.; Savolainen, R.; Ulmanen, I.: Cloning and characterization of human placental catechol-O-methyltransferase cDNA. DNA Cell Biol. 10: 181-189, 1991.
[0012344]2932.Scanlon, P. D.; Raymond, F. A.; Weinshilboum, R. M.: Catechol-O-methyltransferase: thermolabile enzyme in erythrocytes of subjects homozygous for allele for low activity. Science 203: 63-65, 1979.
[0012345]2933.Siervogel, R. M.; Weinshilboum, R.; Wilson, A. F.; Elston, R. C.: Major gene model for the inheritance of catechol-O-methyltransferase activity in five large families. Am. J. Med. Genet. 19: 315-323, 1984.
[0012346]2934.Spielman, R. S.; Weinshilboum, R. M.: Genetics of red cell COMT activity: analysis of thermal stability and family data. Am. J. Med. Genet. 10: 279-290, 1981.
[0012347]2935.Syvanen, A.-C.; Tilgmann, C.; Rinne, J.; Ulmanen, I.: Genetic polymorphism of catechol-O-methyltransferase (COMT): correlation of genotype with individual variation of S-COMT activity and comparison of the allele frequencies in the normal population and parkinsonian patients in Finland. Pharmacogenetics 7: 65-71, 1997.
[0012348]2936.Weinshilboum, R.; Dunnette, J.: Thermal stability and the biochemical genetics of erythrocyte catechol-O-methyltransferase and plasma dopamine-beta-hydroxylase. Clin. Genet. 19: 426-437, 1981.
[0012349]2937.Weinshilboum, R. M.; Raymond, F. A.: Inheritance of low erythrocyte catechol-Omethyltransferase activity in man. Am. J. Hum. Genet. 29: 125-135, 1977.
[0012350]2938.Rouault, J.-P.; Rimokh, R.; Tessa, C.; Paranhos, G.; Ffrench, M.; Duret, L.; Garoccio, M.; Germain, D.; Samarut, J.; Magaud, J.-P.: BTG1, a member of a new family of antiproliferative genes. EMBO J. 11: 1663-1670, 1992.
[0012351]2939.Hall, J. M.; Lee, M. K.; Newman, B.; Morrow, J. E.; Anderson, L. A.; Huey, B.; King, M.-C.: Linkage of early-onset familial breast cancer to chromosome 17q21. Science 250: 1684-1689, 1990.
[0012352]2940.Lucker, G. P. H.; van de Kerkhof, P. C. M.; Steijlen, P. M.: The hereditary palmoplantar keratoses: an updated review and classification. Brit. J. Derm. 131: 1-14, 1994.
[0012353]2941.DiCroce, P. A.; Krontiris, T. G.: The BCL2 major breakpoint region is a sequence- and cell-cycle-specific binding site of the Ku antigen. Proc. Nat. Acad. Sci. 92: 10137-10141, 1995.
[0012354]2942.Seidman, C. E.: Personal Communication. Boston, Mass. 3/4/1992.
[0012355]2943.Bachman, E. S.; Dhillon, H.; Zhang, C.-Y.; Cinti, S.; Bianco, A. C.; Kobilka, B. K.; Lowell, B. B.: Beta-AR signaling required for diet-induced thermogenesis and obesity resistance. Science 297: 843-845, 2002.
[0012356]2944.Benovic, J. L.; Stone, W. C.; Huebner, K.; Croce, C.; Caron, M. G.; Lefkowitz, R. J.: cDNA cloning and chromosomal localization of the human beta-adrenergic receptor kinase. FEBS Lett. 283: 122-126, 1991.
[0012357]2945.Harding, V. B.; Jones, L. R.; Lefkowitz, R. J.; Koch, W. J.; Rockman, H. A.: Cardiac beta-ARK1 inhibition prolongs survival and augments beta blocker therapy in a mouse model of severe heart failure. Proc. Nat. Acad. Sci. 98: 5809-5814, 2001.
[0012358]2946.Penn, R. B.; Benovic, J. L.: Structure of the human gene encoding the beta-adrenergic receptor kinase. J. Biol. Chem. 269: 14924-14930, 1994.
[0012359]2947.Rockman, H. A.; Chien, K. R.; Choi, D.-J.; Iaccarino, G.; Hunter, J. J.; Ross, J., Jr.; Lefkowitz, R. J.; Koch, W. J.: Expression of a beta-adrenergic receptor kinase 1 inhibitor prevents the development of myocardial failure in gene-targeted mice. Proc. Nat. Acad. Sci. 95: 7000-7005, 1998.
[0012360]2948.Spurney, R. F.; Flannery, P. J.; Garner, S. C.; Athirakul, K.; Liu, S.; Guilak, F.; Quarles, L. D.: Anabolic effects of a G protein-coupled receptor kinase inhibitor expressed in osteoblasts. J. Clin. Invest. 109: 1361-1371, 2002.
[0012361]2949.Hamann, U.; Haner, M.; Stosiek, U.; Bastert, G.; Scott, R. J. : Low frequency of BRCA1 germline mutations in 45 German breast/ovarian cancer families. J. Med. Genet. 34: 884-888, 1997.
[0012362]2950.Harkin, D. P.; Bean, J. M.; Miklos, D.; Song, Y.-H.; Truong, V. B.; Englert, C.; Christians, F. C.; Ellisen, L. W.; Maheswaran, S.; Oliner, J. D.; Haber, D. A.: Induction of GADD45 and JNK/SAPK-dependent apoptosis following inducible expression of BRCA1. Cell 97: 575-586, 1999.
[0012363]2951.Hartman, A.-R.; Ford, J. M.: BRCA1 induces DNA damage recognition factors and enhances nucleotide excision repair. Nature Genet. 32: 180-184, 2002.
[0012364]2952.Hedenfalk, I.; Duggan, D.; Chen, Y.; Radmacher, M.; Bittner, M.; Simon, R.; Meltzer, P.; Gusterson, B.; Esteller, M.; Kallioniemi, O.-P.; Wilfond, B.; Borg, A.; Trent, J.: Gene-expression profiles in hereditary breast cancer. New Eng. J. Med. 344: 539-548, 2001.
[0012365]2953.Hogervorst, F. B. L.; Cornelis, R. S.; Bout, M.; van Vliet, M.; Oosterwijk, J. C.; Olmer, R.; Bakker, B.; Klijn, J. G. M.; Vasen, H. F. A.; Meijers-Heijboer, H.; Menko, F. H.; Cornelisse, C. J.; den Dunnen, J. T.; Devilee, P.; van Ommen, G.-J. B.: Rapid detection of BRCA1 mutations by the protein truncation test. Nature Genet. 10: 208-212, 1995.
[0012366]2954.Holt, J. T.; Thompson, M. E.; Szabo, C.; Robinson-Benion, C.; Arteaga, C. L.; King, M.-C.; Jensen, R. A.: Growth retardation and tumour inhibition by BRCA1. Nature Genet. 12: 298-302, 1996.
[0012367]2955.Huttley, G. A.; Easteal, S.; Southey, M. C.; Tesoriero, A.; Giles, G. G.; McCredie, M. R. E.; Hopper, J. L.; Venter, D. J.; Australian Breast Cancer Family Study: Adaptive evolution of the tumour suppressor BRCA1 in humans and chimpanzees. Nature Genet. 25: 410-413, 2000.
[0012368]2956.Isaacs, S. D.; Kiemeney, L. A. L. M.; Baffoe-Bonnie, A.; Beaty, T. H.; Walsh, P. C.: Risk of cancer in relatives of prostate cancer probands. J. Nat. Cancer Inst. 87: 991-996, 1995.
[0012369]2957.Ishioka, C.; Suzuki, T.; Fitzgerald, M.; Krainer, M.; Shimodaira, H.; Shimada, A.; Nomizu, T.; Isselbacher, K. J.; Haber, D.; Kanamaru, R.: Detection of heterozygous truncating mutations in the BRCA1 and APC genes by using a rapid screening assay in yeast. Proc. Nat. Acad. Sci. 94: 2449-2453, 1997.
[0012370]2958.James, V.; Kearsley, J.; Irving, T.; Amemiya, Y.; Cookson, D. : Using hair to screen for breast cancer. Nature 398: 33-34, 1999.
[0012371]2959.Janezic, S. A.; Ziogas, A.; Krumroy, L. M.; Krasner, M.; Plummer, S. J.; Cohen, P.; Gildea, M.; Barker, D.; Haile, R.; Casey, G.; Anton-Culver, H.: Germline BRCA1 alterations in a population-based series of ovarian cancer cases. Hum. Molec. Genet. 8: 889-897, 1999.
[0012372]2960.Jensen, R. A.; Thompson, M. E.; Jetton, T. L.; Szabo, C. I.; van der Meer, R.; Helou, B.; Tronick, S. R.; Page, D. L.; King, M.-C.; Holt, J. T.: BRCA1 is secreted and exhibits properties of a granin. Nature Genet. 12: 303-308, 1996.
[0012373]2961.Jin, Y.; Xu, X. L.; Yang, M.-C. W.; Wei, F.; Ayi, T.-C.; Bowcock, A. M.; Baer, R.: Cell cycle-dependent colocalization of BARD1 and BRCA1 proteins in discrete nuclear domains. Proc. Nat. Acad. Sci. 94: 12075-12080, 1997.
[0012374]2962.Johannsson, O.; Ostermeyer, E. A.; Hakansson, S.; Friedman, L. S.; Johansson, U.; Sellberg, G.; Brondum-Nielsen, K.; Sele, V.; Olsson, H.; King, M.-C.; Borg, A.: Founding BRCA1 mutations in hereditary breast and ovarian cancer in Southern Sweden. Am. J. Hum. Genet. 58: 441-450, 1996.
[0012375]2963.Kauff, N. D.; Satagopan, J. M.; Robson, M. E.; Scheuer, L.; Hensley, M.; Hudis, C. A.; Ellis, N. A.; Boyd, J.; Borgen, P. I.; Barakat, R. R.; Norton, L.; Offit, K.: Risk-reducing salpingooophorectomy in women with a BRCA1 or BRCA2 mutation. New Eng. J. Med. 346: 1609-1615, 2002.
[0012376]2964.Kelsell, D. P.; Black, D. M.; Bishop, D. T.; Spurr, N. K.: Genetic analysis of the BRCA1 region in a large breast/ovarian family: refinement of the minimal region containing BRCA1. Hum. Molec. Genet. 2: 1823-1828, 1993.
[0012377]2965.Khavari, P. A.; Peterson, C. L.; Tamkun, J. W.; Mendel, D. B.; Crabtree, G. R.: BRG1 contains a conserved domain of the SWI2/SNF2 family necessary for normal mitotic growth and transcription. Nature 366: 170-174, 1993.
[0012378]2966.Krainer, M.; Silva-Arrieta, S.; Fitzgerald, M. G.; Shimada, A.; Ishioka, C.; Kanamaru, R.; MacDonald, D. J.; Unsal, H.; Finkelstein, D. M.; Bowcock, A.; Isselbacher, K. J.; Haber, D. A.: Differential contributions of BRCA1 and BRCA2 to early-onset breast cancer. New Eng. J. Med. 336: 1416-1421, 1997.
[0012379]2967.Langston, A. A.; Malone, K. E.; Thompson, J. D.; Daling, J. R.; Ostrander, E. A.: BRCA1 mutations in a population-based sample of young women with breast cancer. New Eng. J. Med. 334: 137-142, 1996.
[0012380]2968.Langston, A. A.; Stanford, J. L.; Wicklund, K. G.; Thompson, J. D.; Blazej, R. G.; Ostrander, E. A.: Germ-line BRCA1 mutations in selected men with prostate cancer. (Letter) Am. J. Hum. Genet. 58: 881-885, 1996.
[0012381]2969.Lee, C. G.; Hurwitz, J.: Human RNA helicase A is homologous to the maleless protein of Drosophila. J. Biol. Chem. 268: 16822-16830, 1993.
[0012382]2970.Lee, J.-S.; Collins, K. M.; Brown, A. L.; Lee, C.-H.; Chung, J. H.: hCds1-mediated phosphorylation of BRCA1 regulates the DNA damage response. Nature 404: 201-204, 2000.
[0012383]2971.Li, S.; Ting, N. S. Y.; Zheng, L.; Chen, P.-L.; Ziv, Y.; Shiloh, Y.; Lee, E. Y.-H. P.; Lee, W.-H.: Functional link of BRCA1 and ataxia telangiectasia gene product in DNA damage response. Nature 406: 210-215, 2000.
[0012384]2972.Liede, A.; Malik, I. A.; Aziz, Z.; de los Rios, P.; Kwan, E.; Narod, S. A.: Contribution of BRCA1 and BRCA2 mutations to breast and ovarian cancer in Pakistan. Am. J. Hum. Genet. 71: 595-606, 2002.
[0012385]2973.Liede, A.; Rehal, P.; Vesprini, D.; Jack, E.; Abrahamson, J.; Narod, S. A.: A breast cancer patient of Scottish descent with germ-line mutations in BRCA1 and BRCA2. (Letter) Am. J. Hum. Genet. 62: 1543-1544, 1998.
[0012386]2974.Liu, H.-X.; Cartegni, L.; Zhang, M. Q.; Krainer, A. R.: A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes. Nature Genet. 27: 55-58, 2001.
[0012387]2975.Lorick, K. L.; Jensen, J. P.; Fang, S.; Ong, A. M.; Hatakeyama, S.; Weissman, A. M.: RING fingers mediate ubiquitin-conjugating enzyme (E2)-dependent ubiquitination. Proc. Nat. Acad. Sci. 96: 11364-11369, 1999.
[0012388]2976.Ludwig, T.; Chapman, D. L.; Papaioannou, V. E.; Efstratiadis, A.: Targeted mutations of breast cancer susceptibility gene homologs in mice: lethal phenotypes of Brca1, Brca2, Brca1/Brca2, Brca1/p53, and Brca2/p53 nullizygous embryos. Genes Dev. 11: 1226-1241, 1997.
[0012389]2977.Lynch, H. T.; Watson, P.: Genetic counselling and hereditary breast/ovarian cancer. (Letter) Lancet 339: 1181 only, 1992.
[0012390]2978.Liu, G.; Maunoury, C.; Kamoun, P.; Aral, B.: Assignment of the human gene encoding the delta-1-pyrroline-5-carboxylate synthetase (P5CS) to 10q24.3 by in situ hybridization. Genomics 37: 145-146, 1996.
[0012391]2979.Rabier, D.; Nuttin, C.; Poggi, F.; Padovani, J. P.; Abdo, K.; Bardet, J.; Parvy, P.; Kamoun, P.; Saudubray, J. M.: Familial joint hyperlaxity, skin hyperelasticity, cataract and mental retardation with hyperammonemia and low citrulline, ornithine and proline. A new disorder of collagen metabolism?In: Abstracts of Free Communications, 30th Annual Symposium Leuven, Sept. 8-11, 1992. Pp. 61. SSIEM: The Society for the Study of Inborn Errors of Metabolism, Leuven. 1992.
[0012392]2980.Hess, S. D.; Daggett, L. P.; Crona, J.; Deal, C.; Lu, C.-C.; Urrutia, A.; Chavez-Noriega, L.; Ellis, S. B.; Johnson, E. C.; Velicelebi, G.: Cloning and functional characterization of human heteromeric N-methyl-D-aspartate receptors. J. Pharm. Exp. Ther. 278: 808-816, 1996.
[0012393]2981.Setou, M.; Nakagawa, T.; Seog, D.-H.; Hirokawa, N.: Kinesin superfamily motor protein KIF17 and mLin-10 in NMDA receptor-containing vesicle transport. Science 288: 1796-1802, 2000.
[0012394]2982.Sprengel, R.; Suchanek, B.; Amico, C.; Brusa, R.; Burnashev, N.; Rozov, A.; Hvalby, O.; Jensen, V.; Paulsen, O.; Andersen, P.; Kim, J. J.; Thompson, R. F.; Sun, W.; Webster, L. C.; Grant, S. G. N.; Eilers, J.; Konnerth, A.; Li, J.; McNamara, J. O.; Seeburg, P. H. : Importance of the intracellular domain of NR2 subunits for NMDA receptor function in vivo. Cell 92: 279-289, 1998.
[0012395]2983.Ishii, T.; Moriyoshi, K.; Sugihara, H.; Sakurada, K.; Kadotani, H.; Yokoi, M.; Akazawa, C.; Shigemoto, R.; Mizuno, N.; Masu, M.; Nakanishi, S.: Molecular characterization of the family of the N-methyl-D-aspartate receptor subunits. J. Biol. Chem. 268: 2836-2843, 1993.
[0012396]2984.Kalsi, G.; Whiting, P.; Le Bourdelles, B.; Callen, D.; Barnard, E. A.; Gurling, H.: Localization of the human NMDAR2D receptor subunit gene (GRIN2D) to 19q13.1-qter, the NMDAR2A subunit gene to 16p13.2 (GRIN2A), and the NMDAR2C subunit gene (GRIN2C) to 17q24-q25 using somatic cell hybrid and radiation hybrid mapping panels. Genomics 47: 423-425, 1998.
[0012397]2985.Monyer, H.; Sprengel, R.; Schoepfer, R.; Herb, A.; Higuchi, M.; Lomeli, H.; Burnashev, N.; Sakmann, B.; Seeburg, P. H.: Heteromeric NMDA receptors: molecular and functional distinction of subtypes. Science 256: 1217-1221, 1992.
[0012398]2986.Sakimura, K.; Kutsuwada, T.; Ito, I.; Manabe, T.; Takayama, C.; Kushiya, E.; Yagi, T.; Aizawa, S.; Inoue, Y.; Sugiyama, H.; Mishina, M.: Reduced hippocampal LTP and spatial learning in mice lacking NMDA receptor epsilon 1 subunit. Nature 373: 151-155, 1995.
[0012399]2987.Wakui, K.; Nishida, T.; Masuda, J.; Itoh, T.; Katsumata, D.; Ohno, T.; Fukushima, Y.: De novo interstitial deletion of 4q[46,XX,del(4)(q27q28.2)] with intact blood group-MN locus, confining its locus to 4q28.2-4q31.1. Jpn. J. Hum. Genet. 36: 149-153, 1991.
[0012400]2988.Wilson, A. F.; Elston, R. C.; Siervogel, R. M.; Weinshilboum, R.; Ward, L. J.: Linkage relationships between a major gene for catechol-O-methyltransferase activity and 25 polymorphic marker systems. Am. J. Med. Genet. 19: 525-532, 1984.
[0012401]2989.Mattera, R.; Graziano, M. P.; Yatani, A.; Zhou, Z.; Graf, R.; Codina, J.; Birnbaumer, L.; Gilman, A. G.; Brown, A. M.: Splice variants of the alpha subunit of the G protein G(8) activate both adenylyl cyclase and calcium channels. Science 243: 804-807, 1989.
[0012402]2990.Mehlmann, L. M.; Jones, T. L. Z.; Jaffe, L. A.: Meiotic arrest in the mouse follicle maintained by a GS protein in the oocyte. Science 297: 1343-1345, 2002.
[0012403]2991.Nerlich, A.; Peschel, O.; Lohrs, U.; Parsche, F.; Betz, P.: Juvenile gigantism plus polyostotic fibrous dysplasia in the Tegernsee giant. (Letter) Lancet 338: 886-887, 1991.
[0012404]2992.Patten, J. L.; Johns, D. R.; Valle, D.; Eil, C.; Gruppuso, P. A.; Steele, G.; Smallwood, P. M.; Levine, M. A.: Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy. New Eng. J. Med. 322: 1412-1419, 1990.
[0012405]2993.Persani, L.; Borgato, S.; Lania, A.; Filopanti, M.; Mantovani, G.; Conti, M.; Spada, A.: Relevant cAMP-specific phosphodiesterase isoforms in human pituitary: effect of Gs-alpha mutations. J. Clin. Endocr. Metab. 86: 3795-3800, 2001.
[0012406]2994.Peters, J.; Beechey, C. V.; Ball, S. T.; Evans, E. P.: Mapping studies of the distal imprinting region of mouse chromosome 2. Genet. Res. 63: 169-174, 1994.
[0012407]2995.Premawardhana, L. D. K. E.; Vora, J. P.; Mills, R.; Scanlon, M. F.: Acromegaly and its treatment in the McCune-Albright syndrome. Clin. Endocr. 36: 605-608, 1992.
[0012408]2996.Riminucci, M.; Fisher, L. W.; Majolagbe, A.; Corsi, A.; Lala, R.; De Sanctis, C.; Robey, P. G.; Bianco, P.: A novel GNAS1 mutation, R201G, in McCune-Albright syndrome. J. Bone Miner. Res. 14: 1987-1989, 1999.
[0012409]2997.Schwindinger, W. F.; Francomano, C. A.; Levine, M. A.: Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G-protein of adenylyl cyclase in McCune-Albright syndrome. Proc. Nat. Acad. Sci. 89: 5152-5156, 1992.
[0012410]2998.Schwindinger, W. F.; Francomano, C. A.; Levine, M. A.; McKusick, V. A.: DNA light on the Tegernsee giant. (Letter) Lancet 338: 1454-1455, 1991.
[0012411]2999.Shapira, H.; Mouallem, M.; Shapiro, M. S.; Weisman, Y.; Farfel, Z.: Pseudohypoparathyroidism type Ia: two new heterozygous frameshift mutations in exons 5 and 10 of the Gs alpha gene. Human Genet. 97: 73-75, 1995.
[0012412]3000.Shenker, A.; Chanson, P.; Weinstein, L. S.; Chi, P.; Spiegel, A. M.; Lomri, A.; Marie, P. J.: Osteoblastic cells derived from isolated lesions of fibrous dysplasia contain activating somatic mutations of the G(S)-alpha gene. Hum. Molec. Genet. 4: 1675-1676, 1995.
[0012413]3001.Shenker, A.; Weinstein, L. S.; Moran, A.; Pescovitz, O. H.; Charest, N. J.; Boney, C. M.; Van Wyk, J. J.; Merino, M. J.; Feuillan, P. P.; Spiegel, A. M.: Severe endocrine and nonendocrine manifestations of the McCune-Albright syndrome associated with activating mutations of stimulatory G protein Gs. J. Pediat. 123: 509-518, 1993.
[0012414]3002.Shore, E. M.; Ahn, J.; Jan de Beur, S.; Li, M.; Xu, M.; Gardiner, R. J. M.; Zasloff, M. A.; Whyte, M. P.; Levine, M. A.; Kaplan, F. S.: Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia. New Eng. J. Med. 346: 99-106, 2002.
[0012415]3003.Shore, E. M.; Kaplan, F. S.; Levine, M. A.: GNAS1 mutations and progressive osseous heteroplasia. (Letter) New Eng. J. Med. 346: 1670-1671, 2002.
[0012416]3004.Sparkes, R. S.; Cohn, V. H.; Mohandas, T.; Zollman, S.; Cire-Eversole, P.; Amatruda, T. T.; Reed, R. R.; Lochrie, M. A.; Simon, M. I.: Mapping of genes encoding the subunits of guanine nucleotide-binding protein (G-proteins) in humans. (Abstract) Cytogenet. Cell Genet. 46: 696 only, 1987.
[0012417]3005.Tinschert, S.; Gerl, H.; Gewies, A.; Jung, H.-P.; Nurnberg, P. : McCune-Albright syndrome: clinical and molecular evidence of mosaicism in an unusual giant patient. Am. J. Med. Genet. 83: 100-108, 1999.
[0012418]3006.Vallar, L.; Spada, A.; Giannattasio, G.: Altered Gs and adenylate cyclase activity in human GH-secreting pituitary adenomas. Nature 330: 566-568, 1987.
[0012419]3007.Warner, D. R.; Gejman, P. V.; Collins, R. M.; Weinstein, L. S. : A novel mutation adjacent to the switch III domain of Gs-alpha in a patient with pseudohypoparathyroidism. Molec. Endocr. 11: 1718-1727, 1997.
[0012420]3008.Warner, D. R.; Weinstein, L. S.: A mutation in the heterotrimeric stimulatory guanine nucleotide binding protein alpha-subunit with impaired receptor-mediated activation because of elevated GTPase activity. Proc. Nat. Acad. Sci. 96: 4268-4272, 1999.
[0012421]3009.Warner, D. R.; Weng, G.; Yu, S.; Matalon, R.; Weinstein, L. S. : A novel mutation in the switch 3 region of Gs-alpha in a patient with Albright hereditary osteodystrophy impairs GDP binding and receptor activation. J. Biol. Chem. 273: 23976-23983, 1998.
[0012422]3010.Weinstein, L. S.; Gejman, P. V.; de Mazancourt, P.; American, N.; Spiegel, A. M.: A heterozygous 4-bp deletion mutation in the Gs-alpha gene (GNAS1) in a patient with Albright hereditary osteodystrophy. Genomics 13: 1319-1321, 1992.
[0012423]3011.Weinstein, L. S.; Gejman, P. V.; Friedman, E.; Kadowaki, T.; Collins, R. M.; Gershon, E. S.; Spiegel, A. M.: Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis. Proc. Nat. Acad. Sci. 87: 8287-8290, 1990.
[0012424]3012.Weinstein, L. S.; Shenker, A.; Gejman, P. V.; Merino, M. J.; Friedman, E.; Spiegel, A. M.: Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. New Eng. J. Med. 325: 1688-1695, 1991.
[0012425]3013.Weinstein, L. S.; Yu, S.: The role of genomic imprinting of GS-alpha in the pathogenesis of Albright hereditary osteodystrophy. Trends Endocr. Metab. 10: 81-85, 1999.
[0012426]3014.Walker, M. E.; Rubinstein, P.; Allen, F. H., Jr.: Biochemical genetics of MN. Vox Sang. 32: 111-120, 1977.
[0012427]3015.Weitkamp, L. R.; Adams, M. S.; Rowley, P. T.: Linkage between the MN and Hb beta loci. Hum. Hered. 22: 566-572, 1972.
[0012428]3016.Weitkamp, L. R.; Lovrien, E. W.; Olaisen, B.; Fenger, K.; Gedde-Dahl, T., Jr.; Sorensen, S. A.; Conneally, P. M.; Bias, W. B.; Ott, J.: Linkage relations of the loci for the MN blood group and red cell phosphate. Birth Defects Orig. Art. Ser. XI(3): 276-280, 1975. Note: Alternate: Cytogenet. Cell Genet. 14: 446-450, 1975.....
[0012429]3017.Hansen, R. L.; Marx, J. J.; Ptacek, L. J.; Roberts, R. C.: Immunological studies on an aberrant form of ataxia-telangiectasia. Am. J. Dis. Child. 131: 518-521, 1977.
[0012430]3018.Brown, K. D.; Barlow, C.; Wynshaw-Boris, A.: Multiple ATM-dependent pathways: an explanation for pleiotropy. (Editorial) Am. J. Hum. Genet. 64: 46-50, 1999.
[0012431]3019.Brown, K. D.; Ziv, Y.; Sadanandan, S. N.; Chessa, L.; Collins, F. S.; Shiloh, Y.; Tagle, D. A.: The ataxia-telangiectasia gene product, a constitutively expressed nuclear protein that is not upregulated following genome damage. Proc. Nat. Acad. Sci. 94: 1840-1845, 1997.
[0012432]3020.Brzoska, P. M.; Chen, H.; Zhu, Y.; Levin, N. A.; Disatnik, M.-H.; Mochly-Rosen, D.; Murnane, J. P.; Christman, M. F.: The product of the ataxia-telangiectasia group D complementing gene, ATDC, interacts with a protein kinase C substrate and inhibitor. Proc. Nat. Acad. Sci. 92: 7824-7828, 1995.
[0012433]3021.Byrd, P. J.; McConville, C. M.; Cooper, P.; Parkhill, J.; Stankovic, T.; McGuire, G. M.; Thick, J. A.; Taylor, A. M. R.: Mutations revealed by sequencing the 5-prime half of the gene for ataxia telangiectasia. Hum. Molec. Genet. 5: 145-149, 1996.
[0012434]3022.Byrne, E.; Hallpike, J. F.; Manson, J. F.; Sutherland, G. R.; Thong, Y. H.: Ataxiawithout-telangiectasia: progressive multisystem degeneration with IgE deficiency and chromosome instability. J. Neurol. Sci. 66: 307-317, 1984.
[0012435]3023.Canman, C. E.; Lim, D.-S.; Cimprich, K. A.; Taya, Y.; Tamai, K.; Sakaguchi, K.; Appella, E.; Kastan, M. B.; Siliciano, J. D.: Activation of the ATM kinase by ionizing radiation and phosphorylation of p53. Science 281: 1677-1679, 1998.
[0012436]3024.Carbonari, M.; Cherchi, M.; Paganelli, R.; Giannini, G.; Galli, E.; Gaetano, C.; Papetti, C.; Fiorilli, M.: Relative increase of T cells expressing the gamma/delta rather than the alpha/beta receptor in ataxia-telangiectasia. New Eng. J. Med. 322: 73-76, 1990.
[0012437]3025.Castellvi-Bel, S.; Sheikhavandi, S.; Telatar, M.; Tai, L.-Q.; Hwang, M.; Wang, Z.; Yang, Z.; Cheng, R.; Gatti, R. A.: New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy. Hum. Mutat. 14: 156-162, 1999.
[0012438]3026.Chen, P.; Imray, F. P.; Kidson, C.: Gene dosage and complementation analysis of ataxia telangiectasia lymphoblastoid cell lines assayed by induced chromosome aberrations. Mutat. Res. 129: 165-172, 1984.
[0012439]3027.Chong, M. J.; Murray, M. R.; Gosink, E. C.; Russell, H. R. C.; Srinivasan, A.; Kapsetaki, M.; Korsmeyer, S. J.; McKinnon, P. J.: Atm and Bax cooperate in ionizing radiation-induced apoptosis in the central nervous system. Proc. Nat. Acad. Sci. 97: 889-894, 2000.
[0012440]3028.Chou, P. Y.; Fasman, G. D.: Prediction of the secondary structure of proteins from their amino acid sequence. Adv. Enzymol. Relat. Areas Molec. Biol. 47: 45-148, 1978.
[0012441]3029.Cohen, M. M.; Sagi, M.; Ben-Zur, Z.; Schaap, T.; Voss, R.; Kohn, G.; Ben-Bassat, H.: Ataxia telangiectasia: chromosomal stability in continuous lymphoblastoid cell lines. Cytogenet. Cell Genet. 23: 44-52, 1979.
[0012442]3030.Cohen, M. M.; Shaham, M.; Dagan, J.; Shmueli, E.; Kohn, G.: Cytogenetic investigations in families with ataxia-telangiectasia. Cytogenet. Cell Genet. 15: 338-356, 1975.
[0012443]3031.Concannon, P.; Gatti, R. A.: Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia. Hum. Mutat. 10: 100-107, 1997.
[0012444]3032.Cooper, D. N.; Youssoufian, H.: The CpG dinucleotide and human genetic disease. Hum. Genet. 78: 151-155, 1988. 1. Al Saadi, A.; Palutke, M.; Krishna Kumar, G.: Evolution of chromosomal abnormalities in sequential cytogenetic studies of ataxia telangiectasia. Hum. Genet. 55: 23-29, 1980.
[0012445]3033.Cornforth, M. N.; Bedford, J. S.: On the nature of a defect in cells from individuals with ataxia-telangiectasia. Science 227: 1589-1591, 1985.
[0012446]3034.Cortez, D.; Wang, Y.; Qin, J.; Elledge, S. J.: Requirement of ATM-dependent phosphorylation of Brca1 in the DNA damage response to double-strand breaks. Science 286: 1162-1166, 1999.
[0012447]3035.Cox, R.; Hosking, G. P.; Wilson, J.: Ataxia telangiectasia: evaluation of radiosensitivity in cultured skin fibroblasts as a diagnostic test. Arch. Dis. Child. 53: 386-390, 1978.
[0012448]3036.Curry, C. J. R.; Tsai, J.; Hutchinson, H. T.; Jaspers, N. G. J.; Wara, D.; Gatti, R. A.: ATFresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome. Am. J. Hum. Genet. 45: 270-275, 1989.
[0012449]3037.DeLeon, G. A.; Grover, W. D.; Huff, D. S.: Neuropathologic changes in ataxiatelangiectasia. Neurology 26: 947-951, 1976.
[0012450]3038.Easton, D. F.: Cancer risks in A-T heterozygotes. Int. J. Rad. Biol. 66: S177-S182, 1994.
[0012451]3039.Ejima, Y.; Oshimura, M.; Sasaki, M. S.: Establishment of a novel immortalized cell line from ataxia-telangiectasia fibroblasts and its use for the chromosomal assignment of radiosensitivity gene. Int. J. Radiat. Biol. 58: 989-997, 1990.
[0012452]3040.Ejima, Y.; Sasaki, M. S.: Mutations of the ATM gene detected in Japanese ataxiatelangiectasia patients: possible preponderance of the two founder mutations 4612del165 and 7883del5. Hum. Genet. 102: 403-408, 1998.
[0012453]3041.Elson, A.; Wang, Y.; Daugherty, C. J.; Morton, C. C.; Zhou, F.; Campos-Torres, J.; Leder, P.: Pleiotropic defects in ataxia-telangiectasia protein-deficient mice. Proc. Nat. Acad. Sci. 93: 13084-13089, 1996.
[0012454]3042.Falck, J.; Mailand, N.; Syljuasen, R. G.; Bartek, J.; Lukas, J. : The ATM-Chk2-Cdc25A checkpoint pathway guards against radioresistant DNA synthesis. Nature 410: 842-847, 2001.
[0012455]3043.Falck, J.; Petrini, J. H. J.; Williams, B. R.; Lukas, J.; Bartek, J.: The DNA damagedependent intra-S phase checkpoint is regulated by parallel pathways. Nature Genet. 30: 290-294, 2002.
[0012456]3044.Feigin, R. D.; Vietti, T. J.; Wyatt, R. G.; Kaufman, D. G.; Smith, C. H.: Ataxia telangiectasia with granulocytopenia. J. Pediat. 77: 431-438, 1970.
[0012457]3045.Fiorilli, M.; Antonelli, A.; Russo, G.; Crescenzi, M.; Carbonari, M.; Petrinelli, P.: Variant of ataxia-telangiectasia with low-level radiosensitivity. Hum. Genet. 70: 274-277, 1985.
[0012458]3046.Fiorilli, M.; Businco, L.; Pandolfi, F.; Paganelli, R.; Russo, G.; Aiuti, F.: Heterogeneity of immunological abnormalities in ataxia-telangiectasia. J. Clin. Immun. 3: 135-141, 1983.
[0012459]3047.Kanters, J. K.; Larsen, L. A.; Orholm, M.; Agner, E.; Anderson, P. S.; Vuust, J.; Christiansen, M.: Novel donor splice site mutation in the KVLQT1 gene is associated with the long QT syndrome. J. Cardiovasc. Electrophysiol. 9: 620-624, 1998.
[0012460]3048.Itoh, T.; Kikuchi, K.; Odagawa, Y.; Takata, S.; Yano, K.; Okada, S.; Haneda, N.; Ogawa, S.; Nakano, O.; Kawahara, Y.; Kasai, H.; Nakayama, T.; Fukutomi, T.; Sakurada, H.; Shimizu, A.; Yazaki, Y.; Nagai, R.; Nakamura, Y.; Tanaka, T.: Correlation of genetic etiology with response to beta-adrenergic blockade among symptomatic patients with familial long-QT syndrome. J. Hum. Genet. 46: 38-40, 2001.
[0012461]3049.Keating, M.: Response to Benhorin et al. (1993). Science 260: 1962 only, 1993.
[0012462]3050.Keating, M.; Atkinson, D.; Dunn, C.; Timothy, K.; Vincent, G. M.; Leppert, M.: Linkage of a cardiac arrhythmia, the long QT syndrome, and the Harvey RAS-1 gene. Science 252: 704-706, 1991.
[0012463]3051.Keating, M.; Atkinson, D.; Dunn, C.; Timothy, K.; Vincent, G. M.; Leppert, M.: Long QT syndrome is closely linked to the Harvey RAS-1 gene on chromosome 11. (Abstract) Clin. Res. 39: 317A only, 1991.
[0012464]3052.Keating, M.; Dunn, C.; Atkinson, D.; Timothy, K.; Vincent, G. M.; Leppert, M.: Consistent linkage of the long-QT syndrome to the Harvey Ras-1 locus on chromosome 11. Am. J. Hum. Genet. 49: 1335-1339, 1991.
[0012465]3053.Kerem, B.; Benhorin, J.; Kalman, Y. M.; Medina, A.; Dyer, T. D.; Blangero, J.; MacCluer, J. W.: Evidence for genetic heterogeneity in the long QT syndrome. (Abstract) Am. J. Hum. Genet. 51 (suppl.): A192 only, 1992.
[0012466]3054.Klein, H. O.; Levi, A.; Kaplinsky, E.; Di Segni, E.; David, D. : Congenital long-QT syndrome: deleterious effect of long-term high-rate ventricular pacing and definitive treatment by cardiac transplantation. Am. Heart J. 132: 1079-1081, 1996.
[0012467]3055.Ko, Y.-L.; Chen, S.-A.; Tang, T. K.; Lin, J.-L.; Chiang, C.-E.; Chen, J.-J.; Teng, M.-S.; Chang, M.-S.; Lien, W.-P.; Wu, C.-W.: No evidence for linkage of long QT syndrome and chromosome 11p15.5 markers in a Chinese family: evidence for genetic heterogeneity. Hum. Genet. 94: 364-366, 1994.
[0012468]3056.Kukolich, M. K.; Telsey, A.; Ott, J.; Motulsky, A. G.: Sudden infant death syndrome: normal QT intervals on ECGs of relatives. Pediatrics 60: 51-54, 1977.
[0012469]3057.Larsen, L. A.; Fosdal, I.; Andersen, P. S.; Kanters, J. K.; Vuust, J.; Wettrell, G.; Christiansen, M.: Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene. Europ. J. Hum. Genet. 7: 724-728, 1999.
[0012470]3058.Lee, M. P.; et al.; et al.: Loss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith-Wiedemann syndrome and is independent of insulin-like growth factor II imprinting. Proc. Nat. Acad. Sci. 96: 5203-5208, 1999.
[0012471]3059.Lee, M. P.; Hu, R.-J.; Johnson, L. A.; Feinberg, A. P.: Human KVLQT1 gene shows tissue-specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangements. Nature Genet. 15: 181-185, 1997.
[0012472]3060.Li, H.; Chen, Q.; Moss, A. J.; Robinson, J.; Goytia, V.; Perry, J. C.; Vincent, G. M.; Priori, S. G.; Lehmann, M. H.; Denfield, S. W.; Duff, D.; Kaine, S.; Shimizu, W.; Schwartz, P. J.; Wang, Q.; Towbin, J. A.: New mutations in the KVLQT1 potassium channel that cause long QT syndrome. Circulation 97: 1264-1269, 1998.
[0012473]3061.Locati, E. H.; Zareba, W.; Moss, A. J.; Schwartz, P. J.; Vincent, G. M.; Lehmann, M. H.; Towbin, J. A.; Priori, S. G.; Napolitano, C.; Robinson, J. L.; Andrews, M.; Timothy, K.; Hall, W. J.: Age- and sex-related differences in clinical manifestations in patients with congenital long-QT syndrome. Circulation 97: 2237-2244, 1998.
[0012474]3062.Mannens, M.; Wilde, A.: KVLQT1, the rhythm of imprinting. Nature Genet. 15: 113-115, 1997.
[0012475]3063.Martini, B.: Personal Communication. Thiene, Italy 11/9/1998.
[0012476]3064.Melki, J.; Kaplan, J.; Lucet, V.; Halley, L.; Clemenceau, S.; Kaplan, C.; Baule, M. S.; Frezal, J.: Long QT (Romano-Ward) syndrome: further definition of the linkage to the HLA loci. (Abstract) Cytogenet. Cell Genet. 46: 661 only, 1987.
[0012477]3065.Milne, J. R.; Ward, D. E.; Spurrell, R. A. J.; Camm, A. J.: The long QT syndrome: effects of drugs and left stellate ganglion block. Am. Heart J. 104: 194-198, 1982.
[0012478]3066.Mitsutake, A.; Takeshita, A.; Kuroiwa, A.; Nakamura, M.: Usefulness of the Valsalva maneuver in management of the long QT syndrome. Circulation 63: 1029-1035, 1981.
[0012479]3067.Moss, A. J.; McDonald, J.: Unilateral cervico-thoracic sympathetic ganglionectomy for the treatment of long Q-T interval syndrome. New Eng. J. Med. 285: 903-904, 1971.
[0012480]3068.Moss, A. J.; Schwartz, P. J.: Sudden death and the idiopathic long Q-T syndrome. (Editorial) Am. J. Med. 66: 6-7, 1979.
[0012481]3069.Moss, A. J.; Schwartz, P. J.; Crampton, R. S.; Tzivoni, D.; Locati, E. H.; MacCluer, J.; Hall, W. J.; Weitkamp, L.; Vincent, G. M.; Garson, A., Jr.; Robinson, J. L.; Benhorin, J.; Choi, S.: The long QT syndrome: prospective longitudinal study of 328 families. Circulation 84: 1136-1144, 1991.
[0012482]3070.Murray, A.; Donger, C.; Fenske, C.; Spillman, I.; Richard, P.; Dong, Y. B.; Neyroud, N.; Chevalier, P.; Denjoy, I.; Carter, N.; Syrris, P.; Afzal, A. P.; Patton, M. A.; Guicheney, P.; Jeffery, S.: Splicing mutations in KCNQ1: a mutation hot spot at codon 344 that produces in frame transcripts. Circulation 100: 1077-1084, 1999.
[0012483]3071.Neyroud, N.; Denjoy, I.; Donger, C.; Gary, F.; Villain, E.; Leenhardt, A.; Benali, K.; Schwartz, K.; Coumel, P.; Guicheney, P.: Heterozygous mutation in the pore of potassium channel gene KvLQT1 causes an apparently normal phenotype in long QT syndrome. Europ. J. Hum. Genet. 6: 129-133, 1998.
[0012484]3072.Neyroud, N.; Richard, P.; Vignier, N.; Donger, C.; Denjoy, I.; Demay, L.; Shkolnikova, M.; Pesce, R.; Chevalier, P.; Hainque, B.; Coumel, P.; Schwartz, K.; Guicheney, P.: Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome. Circ. Res. 84: 290-297, 1999.
[0012485]3073.Sato, T.; Saito, H.; Swensen, J.; Olifant, A.; Wood, C.; Danner, D.; Sakamoto, T.; Takita, K.; Kasumi, F.; Miki, Y.; Skolnick, M.; Nakamura, Y.: The human prohibitin gene located on chromosome 17q21 is mutated in sporadic breast cancer. Cancer Res. 52: 1643-1646, 1992.
[0012486]3074.Heald, R.; McLoughlin, M.; McKeon, F.: Human wee1 maintains mitotic timing by protecting the nucleus from cytoplasmically activated cdc2 kinase. Cell 74: 463-474, 1993.
[0012487]3075.Igarashi, M.; Nagata, A.; Jinno, S.; Suto, K.; Okayama, H.: Wee1(+)-like gene in human cells. Nature 353: 80-83, 1991.
[0012488]3076.Spranger, S.; Tariverdian, G.: Symptomatic heterozygosity in the Ellis-van-Creveld syndrome? Clin. Genet. 47: 217-220, 1995.
[0012489]3077.Jupe, E. R.; Badgett, A. A.; Neas, B. R.; Craft, M. A.; Mitchell, D. S.; Resta, R.; Mulvihill, J. J.; Aston, C. E.; Thompson, L. F. : Single nucleotide polymorphism in prohibitin 3-prime untranslated region and breast-cancer susceptibility. Lancet 357: 1588-1589, 2001.
[0012490]3078.Jupe, E. R.; Liu, X. T.; Kiehlbauch, J. L.; et al.: Prohibitin in breast cancer cell lines: loss of antiproliferative activity is linked to 3-prime untranslated region mutations. Cell Growth Diff. 7: 871-878, 1996.
[0012491]3079.Sato, T.; Sakamoto, T.; Takita, K.-I.; Saito, H.; Okui, K.; Nakamura, Y.: The human prohibitin (PHB) gene family and its somatic mutations in human tumors. Genomics 17: 762-764, 1993.
[0012492]3080.White, J. J.; Ledbetter, D. H.; Eddy, R. L., Jr.; Shows, T. B.; Stewart, D. A.; Nuell, M. J.; Friedman, V.; Wood, C. M.; Owens, G. A.; McClung, J. K.; Danner, D. B.; Morton, C. C.: Assignment of the human prohibition (sic) gene (PHB) to chromosome 17 and identification of a DNA polymorphism. Genomics 11: 228-230, 1991.
[0012493]3081.Annunen, P.; Helaakoski, T.; Myllyharju, J.; Veijola, J.; Pihlajaniemi, T.; Kivirikko, K. I.: Cloning of the human prolyl 4-hydroxylase alpha subunit isoform alpha(II) and characterization of the type II enzyme tetramer: the alpha(I) and alpha(II) subunits do not form a mixed alpha(I)alpha(II)beta2 tetramer. J. Biol. Chem. 272: 17342-17348, 1997.
[0012494]3082.Friedman, L.; Higgin, J. J.; Moulder, G.; Barstead, R.; Raines, R. T.; Kimble, J.: Prolyl 4-hydroxylase is required for viability and morphogenesis in Caenorhabditis elegans. Proc. Nat. Acad. Sci. 97: 4736-4741, 2000.
[0012495]3083.Helaakoski, T.; Annunen, P.; Vuori, K.; MacNeil, I. A.; Pihlajaniemi, T.; Kivirikko, K. I.: Cloning, baculovirus expression, and characterization of a second mouse prolyl 4-hydroxylase alphasubunit isoform: formation of an alpha(2)beta(2) tetramer with the protein disulfide-isomerase/beta subunit. Proc. Nat. Acad. Sci. 92: 4427-4431, 1995.
[0012496]3084.Helaakoski, T.; Vuori, K.; Myllyla, R.; Kivirikko, K. I.; Pihlajaniemi, T.: Molecular cloning of the alpha-subunit of human prolyl 4-hydroxylase: the complete cDNA-derived amino acid sequence and evidence for alternative splicing of RNA transcripts. Proc. Nat. Acad. Sci. 86: 4392-4396, 1989.
[0012497]3085.Pajunen, L.; Jones, T. A.; Helaakoski, T.; Pihlajaniemi, T.; Solomon, E.; Sheer, D.; Kivirikko, K. I.: Assignment of the gene coding for the alpha-subunit of prolyl 4-hydroxylase to human chromosome region 10q21.3-23.1. Am. J. Hum. Genet. 45: 829-834, 1989.
[0012498]3086.Helaakoski, T.; Veijola, J.; Vuori, K.; Rehn, M.; Chow, L. T.; Taillon-Miller, P.; Kivirikko, K. I.; Pihlajaniemi, T.: Structure and expression of the human gene for the alpha subunit of prolyl 4-hydroxylase: the two alternatively spliced types of mRNA correspond to two homologous exons the sequences of which are expressed in a variety of tissues. J. Biol. Chem. 269: 27847-27854, 1994.
[0012499]3087.Zelinski, T.; Coghlan, G.; Myal, Y.; Shiu, R. P. C.; Philipps, S.; White, L.; Lewis, M.: Genetic linkage between the Kell blood group system and prolactin-inducible protein loci: provisional assignment of KEL to chromosome 7. Ann. Hum. Genet. 55: 137-140, 1991.
[0012500]3088.Abney, M.; Ober, C.; McPeek, M. S.: Quantitative-trait homozygosity and association mapping and empirical genomewide significance in large, complex pedigrees: fasting serum-insulin level in the Hutterites. Am. J. Hum. Genet. 70: 920-934, 2002.
[0012501]3089.Barbetti, F.; Raben, N.; Kadowaki, T.; Cama, A.; Accili, D.; Gabbay, K. H.; Merenich, J. A.; Taylor, S. I.; Roth, J.: Two unrelated patients with familial hyperproinsulinemia due to a mutation substituting histidine for arginine at position 65 in the proinsulin molecule: identification of the mutation by direct sequencing of genomic deoxyribonucleic acid amplified by polymerase chain reaction. J. Clin. Endocr. Metab. 71: 164-169, 1990.
[0012502]3090.Bell, G. I.; Pictet, R. L.; Rutter, W. J.; Cordell, B.; Tischer, E.; Goodman, H. M.: Sequence of the human insulin gene. Nature 284: 26-32, 1980.
[0012503]3091.Bell, G. I.; Swain, W. F.; Pictet, R.; Cordell, B.; Goodman, H. M.; Rutter, W. J.: Nucleotide sequence of cDNA clone encoding human preproinsulin. Nature 282: 525-527, 1979.
[0012504]3092.Carroll, R. J.; Hammer, R. E.; Chan, S. J.; Swift, H. H.; Rubenstein, A. H.; Steiner, D. F.: A mutant human proinsulin is secreted from islets of Langerhans in increased amounts via an unregulated pathway. Proc. Nat. Acad. Sci. 85: 8943-8947, 1988.
[0012505]3093.Chaganti, R. S. K.; Jhanwar, S. C.; Antonarakis, S. E.; Hayward, W. S.: Germ-line chromosomal localization of genes in chromosome 11p linkage; parathyroid hormone, beta-globin, c-Haras-1, and insulin. Somat. Cell Molec. Genet. 11: 197-202, 1985.
[0012506]3094.Chan, S. J.; Seino, S.; Gruppuso, P. A.; Schwartz, R.; Steiner, D. F.: A mutation in the B chain coding region is associated with impaired proinsulin conversion in a family with hyperproinsulinemia. Proc. Nat. Acad. Sci. 84: 2194-2197, 1987.
[0012507]3095.Collinet, M.; Berthelon, M.; Benit, P.; Laborde, K.; Desbuquois, B.; Munnich, A.; Robert, J. J.: Familial hyperproinsulinaemia due to a mutation substituting histidine for arginine at position 65 in proinsulin: identification of the mutation by restriction enzyme mapping. Europ. J. Pediat. 157: 456-460, 1998.
[0012508]3096.Dandona, P.; Aljada, A.; Mohanty, P.; Ghanim, H.; Hamouda, W.; Assian, E.; Ahmad, S.: Insulin inhibits intranuclear nuclear factor kappa-B and stimulates I-kappa-B in mononuclear cells in obese subjects: evidence for an anti-inflammatory effect? J. Clin. Endocr. Metab. 86: 3257-3265, 2001.
[0012509]3097.Bhalla, U. S.; Ram, P. T.; Iyengar, R.: MAP kinase phosphatase as a locus of flexibility in a mitogen-activated protein kinase signaling network. Science 297: 1018-1023, 2002.
[0012510]3098.Boulton, T. G.; Nye, S. H.; Robbins, D. J.; Ip, N. Y.; Radziejewska, E.; Morgenbesser, S. D.; DePinho, R. A.; Panayotatos, N.; Cobb, M. H.; Yancopoulos, G. D.: ERKs: a family of proteinserine/ threonine kinases that are activated and tyrosine phosphorylated in response to insulin and NGF. Cell 65: 663-675, 1991.
[0012511]3099.Cobb, M. H.; Boulton, T. G.; Robbins, D. J.: Extracellular signal-regulated kinases: ERKs in progress. Cell Regul. 2: 965-978, 1991.
[0012512]3100.Di Cristo, G.; Berardi, N.; Cancedda, L.; Pizzorusso, T.; Putignano, E.; Ratto, G. M.; Maffei, L.: Requirement of ERK activation for visual cortical plasticity. Science 292: 2337-2340, 2001.
[0012513]3101.Forcet, C.; Stein, E.; Pays, L.; Corset, V.; Llambi, F.; Tessier-Lavigne, M.; Mehlen, P.: Netrin-1-mediated axon outgrowth requires deleted in colorectal cancer-dependent MAPK activation. Nature 417: 443-447, 2002.
[0012514]3102.Khokhlatchev, A. V.; Canagarajah, B.; Wilsbacher, J.; Robinson, M.; Atkinson, M.; Goldsmith, E.; Cobb, M. H.: Phosphorylation of the MAP kinase ERK2 promotes its homodimerization and nuclear translocation. Cell 93: 605-615, 1998.
[0012515]3103.Li, L.; Wysk, M.; Gonzalez, F. A.; Davis, R. J.: Genomic loci of human mitogenactivated protein kinases. Oncogene 9: 647-649, 1994.
[0012516]3104.Owaki, H.; Makar, R.; Boulton, T. G.; Cobb, M. H.; Geppert, T. D.: Extracellular signalregulated kinases in T cells: characterization of human ERK1 and ERK2 cDNAs. Biochem. Biophys. Res. Commun. 182: 1416-1422, 1992.
[0012517]3105.Saba-El-Leil, M. K.; Malo, D.; Meloche, S.: Chromosomal localization of the mouse genes encoding the ERK1 and ERK2 isoforms of MAP kinases. Mammalian Genome 8: 141-142, 1997.
[0012518]3106.Stefanovsky, V. Y.; Pelletier, G.; Hannan, R.; Gagnon-Kugler, T.; Rothblum, L. I.; Moss, T.: An immediate response of ribosomal transcription to growth factor stimulation in mammals is mediated by ERK phosphorylation of UBF. Molec. Cell 8: 1063-1073, 2001.
[0012519]3107.Thomas, G.: MAP kinase by any other name smells just as sweet. Cell 68: 3-6, 1992.
[0012520]3108.Garcia, J. I.; Zalba, G.; Detera-Wadleigh, S. D.; de Miguel, C. : Isolation of a cDNA encoding the rat MAP-kinase homolog of human p63mapk. Mammalian Genome 7: 810-814, 1996.
[0012521]3109.Gonzalez, F. A.; Raden, D. L.; Rigby, M. R.; Davis, R. J.: Heterogeneous expression of four MAP kinase isoforms in human tissues. FEBS Lett. 304: 170-178, 1992.
[0012522]3110.Zhu, A. X.; Zhao, Y.; Moller, D. E.; Flier, J. S.: Cloning and characterization of p97(MAPK), a novel human homolog of rat ERK-3. Molec. Cell. Biol. 14: 8202-8211, 1994.
[0012523]3111.Linnenbach, A. J.; Huebner, K.; Reddy, E. P.; Herlyn, M.; Parmiter, A. H.; Nowell, P. C.; Koprowski, H.: Structural alteration in the MYB protooncogene and deletion within the gene encoding alpha-type protein kinase C in human melanoma cell lines. Proc. Nat. Acad. Sci. 85: 74-78, 1988.
[0012524]3112.Bayes, M.; Valverde, D.; Balcells, S.; Grinberg, D.; Vilageliu, L.; Benitez, J.; Ayuso, C.; Beneyto, M.; Baiget, M.; Gonzalez-Duarte, R.: Evidence against involvement of recoverin in autosomal recessive retinitis pigmentosa in 42 Spanish families. Hum. Genet. 96: 89-94, 1995.
[0012525]3113.Dizhoor, A. M.; Ray, S.; Kumar, S.; Niemi, G.; Spencer, M.; Brolley, D.; Walsh, K. A.; Philipov, P. P.; Hurley, J. B.; Stryer, L.: Recoverin: a calcium sensitive activator of retinal rod guanylate cyclase. Science 251: 915-918, 1991.
[0012526]3114.Kanazawa, Y.; Hayashi, M.; Ikeuchi, M.; Kasuga, M.; Oka, Y.; Sato, H.; Hiramatsu, K.; Kosaka, K.: Familial proinsulinemia: a rare disorder of insulin biosynthesis.In: Baba, S.; Kaneko, T.; Yanaihara, N.: Proc. Symp. on proinsulin, insulin, and C-peptide. Tokushima, Japan, 1978. Amsterdam: Excerpta Medica (pub.) 1979. Pp. 262-269.
[0012527]3115.Kayo, T.; Koizumi, A.: Mapping of murine diabetogenic gene Mody on chromosome 7 at D7Mit258 and its involvement in pancreatic islet and beta cell development during the perinatal period. J. Clin. Invest. 101: 2112-2118, 1998.
[0012528]3116.Kwok, S. C. M.; Chan, S. J.; Rubenstein, A. H.; Poucher, R.; Steiner, D. F.: Loss of a restriction endonuclease cleavage site in the gene of a structurally abnormal human insulin. Biochem. Biophys. Res. Commun. 98: 844-849, 1981.
[0012529]3117.Kwok, S. C. M.; Steiner, D. F.; Rubenstein, A. H.; Tager, H. S. : Identification of a point mutation in the human insulin gene giving rise to a structurally abnormal insulin (insulin Chicago). Diabetes 32: 872-875, 1983.
[0012530]3118.Lebo, R. V.; Chakravarti, A.; Buetow, K. H.; Cheung, M.-C.; Cann, H.; Cordell, B.; Goodman, H.: Recombination within and between the human insulin and beta-globin gene loci. Proc. Nat. Acad. Sci. 80: 4808-4812, 1983.
[0012531]3119.Lebo, R. V.; Kan, Y. W.; Cheung, M. C.; Carrano, A. V.; Yu, L.-C.; Chang, J. C.; Cordell, B.; Goodman, H. M.: Assigning the polymorphic human insulin gene to the short arm of chromosome 11 by chromosome sorting. Hum. Genet. 60: 10-15, 1982.
[0012532]3120.Lebo, R. V.; Kan, Y. W.; Cheung, M. C.; Cordell, B.; Goodman, H. M.; Law, M. L.; Jones, C.; Kao, F. T.: Assignment of the human insulin gene to chromosome 11 band p11 and linkage analysis with the beta-globin locus. (Abstract) Am. J. Hum. Genet. 33: 150A, 1981.
[0012533]3121.Le Stunff, C.; Fallin, D.; Schork, N. J.; Bougneres, P.: The insulin gene VNTR is associated with fasting insulin levels and development of juvenile obesity. Nature Genet. 26: 444-446, 2000. Note: Erratum: Nature Genet. 28: 97 only, 2001.
[0012534]3122.Lichter, P.; Tang, C. C.; Call, K.; Hermanson, G.; Evans, G. A.; Housman, D.; Ward, D. C.: High-resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones. Science 247: 64-69, 1990.
[0012535]3123.Premkumar, L. S.; Ahern, G. P.: Induction of vanilloid receptor channel activity by protein kinase C. Nature 408: 985-990, 2000.
[0012536]3124.Huppi, K.; Siwarski, D.; Goodnight, J.; Mischak, H.: Assignment of the protein kinase C delta-polypeptide gene (PRKCD) to human chromosome 3 and mouse chromosome 14. Genomics 19: 161-162, 1994.
[0012537]3125.Mecklenbrauker, I.; Saijo, K.; Zheng, N. Y.; Leitges, M.; Tarakhovsky, A.: Protein kinase C-delta controls self-antigen-induced B-cell tolerance. Nature 416: 860-865, 2002.
[0012538]3126.Mischak, H.; Bodenteich, A.; Kolch, W.; Goodnight, J.; Hofer, F.; Mushinski, J. F.: Mouse protein kinase C-delta, the major isoform expressed in mouse hemopoietic cells: sequence of the cDNA, expression patterns and characterization of the protein. Biochemistry 30: 7925-7931, 1991.
[0012539]3127.Miyamoto, A.; Nakayama, K.; Imaki, H.; Hirose, S.; Jiang, Y.; Abe, M.; Tsukiyama, T.; Nagahama, H.; Ohno, S.; Hatakeyama, S.; Nakayama, K. I.: Increased proliferation of B cells and autoimmunity in mice lacking protein kinase C-delta. Nature 416: 865-869, 2002.
[0012540]3128.Gong, J.; Xu, J.; Bezanilla, M.; van Huizen, R.; Derin, R.; Li, M.: Differential stimulation of PKC phosphorylation of potassium channels by ZIP1 and ZIP2. Science 285: 1565-1569, 1999.
[0012541]3129.Spritz, R. A.; Strunk, K.; Surowy, C. S.; Mohrenweiser, H. W.: Human U1-70K ribonucleoprotein antigen gene: organization, nucleotide sequence, and mapping to locus 19q13.3. Genomics 8: 371-379, 1990.
[0012542]3130.Ford, M. D.; Lavin, M. F.: Ataxia telangiectasia: an anomaly in DNA replication after irradiation. Nucleic Acids Res. 9: 1395-1404, 1981.
[0012543]3131.Frais, M. A.: Gastric adenocarcinoma due to ataxia-telangiectasia (Louis-Bar syndrome). J. Med. Genet. 16: 160-161, 1979.
[0012544]3132.Garnier, J.; Osguthorpe, D. J.; Robson, B.: Analysis of the accuracy and implications of simple methods for predicting the secondary structure of globular proteins. J. Molec. Biol. 120: 97-120, 1978.
[0012545]3133.Epstein, A. C. R.; Gleadle, J. M.; McNeill, L. A.; Hewitson, K. S.; O'Rourke, J.; Mole, D. R.; Mukherji, M.; Metzen, E.; Wilson, M. I.; Dhanda, A.; Tian, Y.-M.; Masson, N.; Hamilton, D. L.; Jaakkola, P.; Barstead, R.; Hodgkin, J.; Maxwell, P. H.; Pugh, C. W.; Schofield, C. J.; Ratcliffe, P. J.: C. elegans EGL-9 and mammalian homologs define a family of dioxygenases that regulate HIF by prolyl hydroxylation. Cell 107: 43-54, 2001.
[0012546]3134.Foroud, T.; Wei, S.; Ziv, Y.; Sobel, E.; Lange, E.; Chao, A.; Goradia, T.; Huo, Y.; Tolun, A.; Chessa, L.; Charmley, P.; Sanal, O.; Salman, N.; Julier, C.; Concannon, P.; McConville, C.; Taylor, A. M. R.; Shiloh, Y.; Lange, K.; Gatti, R. A.: Localization of an ataxia-telangiectasia locus to a 3-cM interval on chromosome 11q23: linkage analysis of 111 families by an international consortium. Am. J. Hum. Genet. 49: 1263-1279, 1991.
[0012547]3135.Gatei, M.; Young, D.; Cerosaletti, K. M.; Desai-Mehta, A.; Spring, K.; Kozlov, S.; Lavin, M. F.; Gatti, R. A.; Concannon, P.; Khanna, K.: ATM-dependent phosphorylation of nibrin in response to radiation exposure. Nature Genet. 25: 115-119, 2000.
[0012548]3136.Gatti, R. A.: Personal Communication. Los Angeles, Calif. 6/1990.
[0012549]3137.Gatti, R. A.: Personal Communication. Los Angeles, Calif. 6/13/1989.
[0012550]3138.Gatti, R. A.; Aurias, A.; Griscelli, C.; Sparkes, R. S.: Translocations involving chromosomes 2p and 22q in ataxia-telangiectasia. Dis. Markers 3: 169-195, 1985.
[0012551]3139.Gatti, R. A.; Bick, M.; Tam, C. F.; Medici, M. A.; Oxelius, V.-A.; Holland, M.; Goldstein, A. L.; Boder, E.: Ataxia-telangiectasia: a multiparameter analysis of eight families. Clin. Immun. Immunopath. 23: 501-516, 1982.
[0012552]3140.Gatti, R. A.; Boder, E.; Vinters, H. V.; Sparkes, R. S.; Norman, A.; Lange, K.: Ataxiatelangiectasia: an interdisciplinary approach to pathogenesis. Medicine 70: 99-117, 1991.
[0012553]3141.Gatti, R. A.; Peterson, K. L.; Novak, J.; Chen, X.; Yang-Chen, L.; Liang, T.; Lange, E.; Lange, K.: Prenatal genotyping of ataxia-telangiectasia. (Letter) Lancet 342: 376, 1993.
[0012554]3142.Gatti, R. A.; Swift, M.: Ataxia-telangiectasia: Genetics, Neuropathology, and Immunology of a Degenerative Disease of Childhood. New York: Alan R. Liss (pub.) 1985.
[0012555]3143.Gatti, R. A.; Berkel, I.; Boder, E.; Braedt, G.; Charmley, P.; Concannon, P.; Ersoy, R.; Foroud, T.; Jaspers, N. G. J.; Lange, K.; Lathrop, G. M.; Leppert, M.; Nakamura, Y.; O'Connell, P.; Paterson, M.; Salser, W.; Sanal, O.; Silver, J.; Sparkes, R. S.; Susi, E.; Weeks, D. E.; Wei, S.; White, R.; Yoder, F.: Localization of an ataxia-telangiectasia gene to chromosome 11q22-23. Nature 336: 577-580, 1988.
[0012556]3144.Gilad, S.; Bar-Shira, A.; Harnik, R.; Shkedy, D.; Ziv, Y.; Khosravi, R.; Brown, K.; Vanagaite, L.; Xu, G.; Frydman, M.; Lavin, M. F.; Hill, D.; Tagle, D. A.; Shiloh, Y.: Ataxiatelangiectasia: founder effect among North African Jews. Hum. Molec. Genet. 5: 2033-2037, 1996.
[0012557]3145.Gilad, S.; Chessa, L.; Khosravi, R.; Russell, P.; Galanty, Y.; Piane, M.; Gatti, R. A.; Jorgensen, T. J.; Shiloh, Y.; Bar-Shira, A.: Genotype-phenotype relationships in ataxia-telangiectasia and variants. Am. J. Hum. Genet. 62: 551-561, 1998.
[0012558]3146.Gilad, S.; Khosravi, R.; Shkedy, D.; Uziel, T.; Ziv, Y.; Savitsky, K.; Rotman, G.; Smith, S.; Chessa, L.; Jorgensen, T. J.; Harnik, R.; Frydman, M.; Sanal, O.; Portnoi, S.; Goldwicz, Z.; Jaspers, N. G. J.; Gatti, R. A.; Lenoir, G.; Lavin, M. F.; Tatsumi, K.; Wegner, R. D.; Shiloh, Y.; Bar-Shira, A.: Predominance of null mutations in ataxia-telangiectasia. Hum. Molec. Genet. 5: 433-439, 1996.
[0012559]3147.Ginter, D. N.; Tallapragada, R.: Ataxia-telangiectasia. Birth Defects Orig. Art. Ser. XI(2): 408-409, 1975.
[0012560]3148.Greenwell, P. W.; Kronmal, S. L.; Porter, S. E.; Gassbenhuber, J.; Obermaier, B.; Petes, T. D.: TEL1, a gene involved in controlling telomere length in S. cerevisiae, is homologous to the human ataxia telangiectasia gene. Cell 82: 823-829, 1995.
[0012561]3149.Haerer, A. F.; Jackson, J. F.; Evers, C. G.: Ataxia-telangiectasia with gastric adenocarcinoma. J.A.M.A. 210: 1884-1887, 1969.
[0012562]3150.Hagberg, A.; Hansson, O.; Liden, S.; Nilsson, K.: Familial ataxic diplegia with deficient cellular immunity: a new clinical entity. Acta Paediat. Scand. 59: 545-550, 1970.
[0012563]3151.Hande, M. P.; Balajee, A. S.; Tchirkov, A.; Wynshaw-Boris, A.; Lansdorp, P. M.: Extrachromosomal telomeric DNA in cells from Atm-/- mice and patients with ataxia-telangiectasia. Hum. Molec. Genet. 10: 519-528, 2001.
[0012564]3152.Crawford, R. J.; Hudson, P.; Shine, J.; Niall, H. D.; Eddy, R. L.; Shows, T. B.: Two human relaxin genes are on chromosome 9. EMBO J. 3: 2341-2345, 1984.
[0012565]3153.Hsu, S. Y.; Nakabayashi, K.; Nishi, S.; Kumagai, J.; Kudo, M.; Sherwood, O. D.; Hsueh, A. J. W.: Activation of orphan receptors by the hormone relaxin. Science 295: 671-674, 2002.
[0012566]3154.Hudson, P.; Haley, J.; Cronk, M.; Shine, J.; Niall, H.: Molecular cloning and characterization of cDNA sequences coding for rat relaxin. Nature 291: 127-131, 1981.
[0012567]3155.Hudson, P.; Haley, J.; John, M.; Cronk, M.; Crawford, R.; Haralambidis, J.; Tregear, G.; Shine, J.; Niall, H.: Structure of a genomic clone encoding biologically active human relaxin. Nature 301: 628-831, 1983.
[0012568]3156.Hudson, P.; John, M.; Crawford, R.; Haralambidis, J.; Scanlon, D.; Gorman, J.; Tregear, G.; Shine, J.; Niall, H.: Relaxin gene expression in human ovaries and the predicted structure of a human preprorelaxin by analysis of cDNA clones. EMBO J. 3: 2333-2339, 1984.
[0012569]3157.Naggert, J. K.; Mu, J.-L.: The mouse very low density lipoprotein receptor (Vldlr) gene maps to chromosome 19. Mammalian Genome 5: 453-455, 1994.
[0012570]3158.Schwabe, C.; Bullesbach, E. E.: Relaxin: structures, functions, promises, and nonevolution. FASEB J. 8: 1152-1160, 1994.
[0012571]3159.Zhao, L.; Roche, P. J.; Gunnerson, J. M.; Hammond, V. E.; Tregear, G. W.; Wintour, E. M.; Beck, F.: Mice without a functional relaxin gene are unable to deliver milk to their pups. Endocrinology 140: 445-453, 1999.
[0012572]3160.Meloni, A. M.; Dobbs, R. M.; Pontes, J. E.; Sandberg, A. A.: Translocation (X;1) in papillary renal cell carcinoma: a new cytogenetic subtype. Cancer Genet. Cytogenet. 65: 1-6, 1993.
[0012573]3161.Zbar, B.; Tory, K.; Merino, M.; Schmidt, L.; Glenn, G.; Choyke, P.; Walther, M. M.; Lerman, M.; Linehan, W. M.: Hereditary papillary renal cell carcinoma. J. Urol. 151: 561-566, 1994.
[0012574]3162.Adachi, H.; Tawaragi, Y.; Inuzuka, C.; Kubota, I.; Tsujimoto, M.; Nishihara, T.; Nakazato, H.: Primary structure of human microsomal dipeptidase deduced from molecular cloning. J. Biol. Chem. 265: 3992-3995, 1990.
[0012575]3163.Austruy, E.; Jeanpierre, C.; Antignac, C.; Whitmore, S. A.; Van Cong, N.; Bernheim, A.; Callen, D. F.; Junien, C.: Physical and genetic mapping of the dipeptidase gene DPEP1 to 16q24.3. Genomics 15: 684-687, 1993.
[0012576]3164.Campbell, B. J.; Forrester, L. J.; Zahler, W. L.; Burks, M.: Beta-lactamase activity of purified and partially characterized human renal dipeptidase. J. Biol. Chem. 259: 14586-14590, 1984.
[0012577]3165.Kozak, E. M.; Tate, S. S.: Glutathione-degrading enzymes of microvillus membranes. J. Biol. Chem. 257: 6322-6327, 1982.
[0012578]3166.Nakagawa, H.; Inazawa, J.; Inoue, K.; Misawa, S.; Kashima, K.; Adachi, H.; Nakazato, H.; Abe, T.: Assignment of the human renal dipeptidase gene (DPEP1) to band q24 of chromosome 16. (Abstract) Cytogenet. Cell Genet. 58: 2002 only, 1991.
[0012579]3167.Bruce, L. J.; Cope, D. L.; Jones, G. K.; Schofield, A. E.; Burley, M.; Povey, S.; Unwin, R. J.; Wrong, O.; Tanner, M. J. A.: Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (band 3, AE1) gene. J. Clin. Invest. 100: 1693-1707, 1997.
[0012580]3168.Kunz, J.; Hudler, M.; Fritz, B.; Gillessen-Kaesbach, G.; Passarge, E.: Identification of a frameshift mutation in the gene TWIST in a family affected with Robinow-Sorauf syndrome. J. Med. Genet. 36: 650-652, 1999.
[0012581]3169.Adachi, T.; Ohta, H.; Yamada, H.; Futenma, A.; Kato, K.; Hirano, K.: Quantitative analysis of extracellular-superoxide dismutase in serum and urine by ELISA with monoclonal antibody. Clin. Chim. Acta 212: 89-102, 1992.
[0012582]3170.Folz, R. J.; Crapo, J. D.: Extracellular superoxide dismutase (SOD3): tissue-specific expression, genomic characterization, and computer-assisted sequence analysis of the human EC SOD gene. Genomics 22: 162-171, 1994.
[0012583]3171.Hendrickson, D. J.; Fisher, J. H.; Jones, C.; Ho, Y.-S.: Regional localization of human extracellular superoxide dismutase gene to 4pter-q21. Genomics 8: 736-738, 1990.
[0012584]3172.Hjalmarsson, K.; Marklund, S. L.; Engstrom, A.; Edlund, T.: Isolation and sequence of complementary DNA encoding human extracellular superoxide dismutase. Proc. Nat. Acad. Sci. 84: 6340-6344, 1987.
[0012585]3173.Marklund, S. L.: Extracellular superoxide dismutase in human tissues and human cell lines. J. Clin. Invest. 74: 1398-1403, 1984.
[0012586]3174.Sandstrom, J.; Nilsson, P.; Karlsson, K.; Marklund, S. L.: 10-fold increase in human plasma extracellular superoxide dismutase content caused by a mutation in heparin-binding domain. J. Biol. Chem. 269: 19163-19166, 1994.
[0012587]3175.Yamada, H.; Yamada, Y.; Adachi, T.; Goto, H.; Ogasawara, N.; Futenma, A.; Kitano, M.; Hirano, K.; Kato, K.: Molecular analysis of extracellular-superoxide dismutase gene associated with high level in serum. Jpn. J. Hum. Genet. 40: 177-184, 1995.
[0012588]3176.McNew, J. A.; Parlati, F.; Fukuda, R.; Johnston, R. J.; Paz, K.; Paumet, F.; Sollner, T. H.; Rothman, J. E.: Compartmental specificity of cellular membrane fusion encoded in SNARE proteins. Nature 407: 153-159, 2000.
[0012589]3177.Weber, T.; Zemelman, B. V.; McNew, J. A.; Westermann, B.; Gmachi, M.; Parlati, F.; Sollner, T. H.; Rothman, J. E.: SNAREpins: minimal machinery for membrane fusion. Cell 92: 759-772, 1998.
[0012590]3178.Bodmer, W. F.: Monoclonal antibodies: their role in human genetics. (Abstract) Sixth Int. Cong. Hum. Genet., Jerusalem 112 only, 1981.
[0012591]3179.Bongiovanni, A. M.: The adrenogenital syndrome with deficiency of 3-betahydroxysteroid dehydrogenase. J. Clin. Invest. 41: 2086-2092, 1962.
[0012592]3180.Chang, Y. T.; Kappy, M. S.; Iwamoto, K.; Wang, J.; Yang, X.; Pang, S.: Mutations in the type II 3-beta-hydroxysteroid dehydrogenase gene in a patient with classic salt-wasting 3-betahydroxysteroid dehydrogenase deficiency congenital adrenal hyperplasia. Pediat. Res. 34: 698-700, 1993.
[0012593]3181.Cravioto, M. D.; Ulloa-Aguirre, A.; Bermudez, J. A.; Herrera, J.; Lisker, R.; Mendez, J. P.; Perez-Palacios, G.: A new inherited variant of the 3-beta-hydroxysteroid dehydrogenase-isomerase deficiency syndrome: evidence for the existence of two isoenzymes. J. Clin. Endocr. Metab. 63: 360-367, 1986.
[0012594]3182.Hamilton, W.; Brush, M. G.: Four clinical variants of congenital adrenal hyperplasia. Arch. Dis. Child. 39: 66-72, 1964.
[0012595]3183.Mendonca, B. B.; Bloise, W.; Arnhold, I. J. P.; Batista, M. C.; Toledo, S. P. A.; Drummond, M. C. F.; Nicolau, W.; Mattar, E.: Male pseudohermaphroditism due to nonsalt-losing 3-beta-hydroxysteroid dehydrogenase deficiency: gender role change and absence of gynecomastia at puberty. J. Steroid Biochem. 28: 669-675, 1987.
[0012596]3184.Morrison, N.; Nickson, D. A.; McBride, M.; Mueller, U. W.; Boyd, E.; Sutcliffe, R. G.: Regional chromosomal assignment of the human 3 beta-hydroxysteroid dehydrogenase/delta 5-4 isomerase (HSDB3) to 1p13.1. (Abstract) Cytogenet. Cell Genet. 58: 1860 only, 1991.
[0012597]3185.Morrison, N.; Nickson, D. A.; McBride, M. W.; Mueller, U. W.; Boyd, E.; Sutcliffe, R. G.: Regional chromosomal assignment of human 3-beta-hydroxy-5-ene steroid dehydrogenase to 1p13.1 by non-isotopic in situ hybridisation. Hum. Genet. 87: 223-225, 1991.
[0012598]3186.Nishi, Y.; Tezuka, T.: Mild adrenal 3-beta-hydroxysteroid dehydrogenase deficiency in children with accelerated growth, premature pubarche and/or hirsutism. Europ. J. Pediat. 151: 19-23, 1992.
[0012599]3187.Rheaume, E.; Leblanc, J. F.; Lachance, Y.; Labrie, F.; Simard, J.: Detection of frequent BglII polymorphism by polymerase chain reaction and TaqI restriction fragment length polymorphism for 3-beta-hydroxysteroid dehydrogenase/delta-5-delta-4 isomerase at the human HSDB3 locus (1p11-p13). Hum. Genet. 87: 753-754, 1991.
[0012600]3188.Rheaume, E.; Simard, J.; Morel, Y.; Mebarki, F.; Zachmann, M.; Forest, M. G.; New, M. I.; Labrie, F.: Congenital adrenal hyperplasia due to point mutations in the type II 3-betahydroxysteroid dehydrogenase gene. Nature Genet. 1: 239-245, 1992.
[0012601]3189.Simard, J.; Durocher, F.; Mebarki, F.; Turgeon, C.; Sanchez, R.; Labrie, Y.; Couet, J.; Trudel, C.; Rheaume, E.; Morel, Y.; Luu-The, V.; Labrie, F.: Molecular biology and genetics of the 3-beta-hydroxysteroid dehydrogenase/delta-5-delta-4 isomerase gene family. J. Endocrin. 150: S189-S207, 1996.
[0012602]3190.Stalvey, J. R. D.; Meisler, M. H.; Payne, A. H.: Evidence that the same structural gene encodes testicular and adrenal 3-beta-hydroxysteroid dehydrogenase-isomerase. Biochem. Genet. 25: 181-190, 1987.
[0012603]3191.Zachmann, M.; Forest, M. G.; De Peretti, E.: 3 beta-hydroxysteroid dehydrogenase deficiency: follow-up study in a girl with pubertal bone age. Hormone Res. 11: 292-302, 1979.
[0012604]3192.Aguiar-Oliveira, M. H.; Gill, M. S.; de A. Barretto, E. S.; Alcantara, M. R. S.; Miraki-Moud, F.; Menezes, C. A.; Souza, A. H. O.; Martinelli, C. E.; Pereira, F. A.; Salvatori, R.; Levine, M. A.; Shalet, S. M.; Camacho-Hubner, C.; Clayton, P. E.: Effect of severe growth hormone (GH) deficiency due to a mutation in the GH-releasing hormone receptor on insulin-like growth factors (IGFs), IGFbinding proteins, and ternary complex formation throughout life. J. Clin. Endocr. Metab. 84: 4118-4126, 1999.
[0012605]3193.DeAlmeida, V. I.; Mayo, K. E.: Identification and binding domains of the growth hormone-releasing hormone receptor by analysis of mutant and chimeric receptor proteins. Molec. Endocr. 12: 750-765, 1998.
[0012606]3194.Gaylinn, B. D.; Harrison, J. K.; Zysk, J. R.; Lyons, C. E.; Lynch, K. R.; Thorner, M. O.: Molecular cloning and expression of a human anterior pituitary receptor for growth hormone-releasing hormone. Molec. Endocr. 7: 77-84, 1993.
[0012607]3195.Gaylinn, B. D.; von Kap-Herr, C.; Golden, W. L.; Thorner, M. O. : Assignment of the human growth hormone-releasing hormone receptor gene (GHRHR) to 7p14 by in situ hybridization. Genomics 19: 193-195, 1994.
[0012608]3196.Godfrey, P.; Rahal, J. O.; Beamer, W. G.; Copeland, N. G.; Jenkins, N. A.; Mayo, K. E.: GHRH receptor of little mice contains a missense mutation in the extracellular domain that disrupts receptor function. Nature Genet. 4: 227-232, 1993.
[0012609]3197.Gondo, R. G.; Aguiar-Oliveira, M. H.; Hayashida, C. Y.; Toledo, S. P. A.; Abelin, N.; Levine, M. A.; Bowers, C. Y.; Souza, A. H. O.; Pereira, R. M. C.; Santos, N. L.; Salvatori, R.: Growth hormone-releasing peptide-2 stimulates GH secretion in GH-deficient patients with mutated GH-releasing hormone receptor. J. Clin. Endocr. Metab. 86: 3279-3283, 2001.
[0012610]3198.Lin, S.-C.; Lin, C. R.; Gukovsky, I.; Lusis, A. J.; Sawchenko, P. E.; Rosenfeld, M. G.: Molecular basis of the little mouse phenotype and implications for cell type-specific growth. Nature 364: 208-213, 1993.
[0012611]3199.Maheshwari, H. G.; Silverman, B. L.; Dupuis, J.; Baumann, G.: Phenotype and genetic analysis of a syndrome caused by an inactivating mutation in the growth hormone-releasing hormone receptor: dwarfism of Sindh. J. Clin. Endocr. Metab. 83: 4065-4074, 1998.
[0012612]3200.Netchine, I.; Talon, P.; Dastot, F.; Vitaux, F.; Goossens, M.; Amselem, S.: Extensive phenotypic analysis of a family with growth hormone (GH) deficiency caused by a mutation in the GHreleasing hormone receptor gene. J. Clin. Endocr. Metab. 83: 432-436, 1998.
[0012613]3201.Petersenn, S.; Rasch, A. C.; Heyens, M.; Schulte, H. M.: Structure and regulation of the human growth hormone-releasing hormone receptor gene. Molec. Endocr. 12: 233-247, 1998.
[0012614]3202.Roelfsema, F.; Biermasz, N. R.; Veldman, R. G.; Veldhuis, J. D.; Frolich, M.; Stovkis-Brantsma, W. H.; Wit, J.-M.: Growth hormone (GH) secretion in patients with an inactivating defect of the GH-releasing hormone (GHRH) receptor is pulsatile: evidence for a role for non-GHRH inputs into the generation of GH pulses. J. Clin. Endocr. Metab. 86: 2459-2464, 2001.
[0012615]3203.Salvatori, R.; Fan, X.; Mullis, P. E.; Haile, A.; Levine, M. A. : Decreased expression of the GHRH receptor gene due to a mutation in a Pit-1 binding site. Molec. Endocr. 16: 450-458, 2002.
[0012616]3204.Salvatori, R.; Fan, X.; Phillips, J. A., III; Espigares-Martin, R.; de Lara, I. M.; Freeman, K. L.; Plotnick, L.; Al-Ashwal, A.; Levine, M. A.: Three new mutations in the gene for the growth hormone (GH)-releasing hormone receptor in familial isolated GH deficiency type IB. J. Clin. Endocr. Metab. 86: 273-279, 2001.
[0012617]3205.Salvatori, R.; Hayashida, C. Y.; Aguiar-Oliveira, M. H.; Phillips, J. A., III; Souza, A. H. O.; Gondo, R. G.; Toledo, S. P. A.; Conceicao, M. M.; Prince, M.; Maheshwari, H. G.; Baumann, G.; Levine, M. A. : Familial dwarfism due to a novel mutation of the growth hormone-releasing hormone receptor gene. J. Clin. Endocr. Metab. 84: 917-923, 1999.
[0012618]3206.Vamvakopoulos, N. C.; Kunz, J.; Olberding, U.; Scherer, S. W.; Sioutopoulou, T. O.; Schneider, V.; Durkin, A. S.; Nierman, W. C. : Mapping the human growth hormone-releasing hormone receptor (GHRHR) gene to the short arm of chromosome 7 (7p13-p21) near the epidermal growth factor receptor (EGFR) gene. Genomics 20: 338-340, 1994.
[0012619]3207.Wajnrajch, M. P.; Gertner, J. M.; Harbison, M. D.; Chua, S. C., Jr.; Leibel, R. L.: Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse. Nature Genet. 12: 88-90, 1996.
[0012620]3208.Baier, L.; The Pima Diabetes Genes Group: Suggestive linkage of genetic markers on chromosome 4q12 to NIDDM and insulin action in Pima Indians: new evidence to extend associations reported in other populations. (Abstract) Diabetes 45 (suppl. 2): 30A only, 1996.
[0012621]3209.Baier, L. J.; Dobberfuhl, A. M.; Pratley, R. E.; Hanson, R. L.; Bogardus, C.: Variations in the vitamin D-binding protein (Gc locus) are associated with oral glucose tolerance in nondiabetic Pima Indians. J. Clin. Endocr. Metab. 83: 2993-2996, 1998.
[0012622]3210.Bearn, A. G.; Bowman, B. H.; Kitchin, F. D.: Genetic and biochemical consideration of the serum group-specific component. Cold Spring Harbor Symp. Quant. Biol. 29: 435-442, 1964.
[0012623]3211.Bowman, B. H.; Brune, J. L.; McCombs, J. L.; Moore, C. M.; Lum, J. B.; Wieder, K.; Barnett, D. R.; Yang, F.: Human group-specific component: a member of the albumin and alphafetoprotein gene family. (Abstract) Am. J. Hum. Genet. 37: A145 only, 1985.
[0012624]3212.Braun, A.; Bichlmaier, R.; Cleve, H.: Molecular analysis of the gene for the human vitamin-D-binding protein (group-specific component): allelic differences of the common genetic GC types. Hum. Genet. 89: 401-406, 1992.
[0012625]3213.Borsani, G.; Bassi, M. T.; Sperandeo, M. P.; De Grandi, A.; Buoninconti, A.; Riboni, M.; Manzoni, M.; Incerti, B.; Pepe, A.; Andria, G.; Ballabio, A.; Sebastio, G.: SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance. Nature Genet. 21: 297-301, 1999.
[0012626]3214.Itoh, H.; Tomita, M.; Uchino, H.; Kobayashi, T.; Kataoka, H.; Sekiya, R.; Nawa, Y.: cDNA cloning of rat pS2 peptide and expression of trefoil peptides in acetic acid-induced colitis. Biochem. J. 318: 939-944, 1996.
[0012627]3215.Seib, T.; Blin, N.; Hilgert, K.; Seifert, M.; Theisinger, B.; Engel, M.; Dooley, S.; Zang, K.-D.; Welter, C.: The three human trefoil genes TFF1, TFF2, and TFF3 are located within a region of 55 kb on chromosome 21q22.3. Genomics 40: 200-202, 1997.
[0012628]3216.Aagenaes, O.: Hereditary spastic paraplegia. Acta Psychiat. Neurol. Scand. 34: 489-494, 1959.
[0012629]3217.Bayley, W. D.: Hereditary spastic paraplegia. J. Nerv. Ment. Dis. 24: 697-701, 1897.
[0012630]3218.Behan, W. M. H.; Maia, M.: Strumpell's familial spastic paraplegia: genetics and neuropathology. J. Neurol. Neurosurg. Psychiat. 37: 8-20, 1974.
[0012631]3219.Boustany, R.-M. N.; Fleischnick, E.; Alper, C. A.; Marazita, M. L.; Spence, M. A.; Martin, J. B.; Kolodny, E. H.: The autosomal dominant form of 'pure' familial spastic paraplegia: clinical findings and linkage analysis of a large pedigree. Neurology 37: 910-915, 1987.
[0012632]3220.Burdick, A. B.; Owens, L. A.; Peterson, C. R.: Slowly progressive autosomal dominant spastic paraplegia with late onset, variable expression and reduced penetrance: a basis for diagnosis and counseling. Clin. Genet. 19: 1-7, 1981.
[0012633]3221.Cooley, W. C.; Melkonian, G.; Moses, C.; Moeschler, J. B.: Autosomal dominant familial spastic paraplegia: description of a large New England family and a study of management. Dev. Med. Child Neurol. 32: 1087-1104, 1990.
[0012634]3222.Cooley, W. C.; Rawnsley, E.; Melkonian, G.; Moses, C.; McCann, D.; Virgin, B.; Coughlan, J.; Moeschler, J. B.: Autosomal dominant familial spastic paraplegia: report of a large New England family. Clin. Genet. 38: 57-68, 1990.
[0012635]3223.Dube, M.-P.; Mlodzienski, M. A.; Kibar, Z.; Farlow, M. R.; Ebers, G.; Harper, P.; Kolodny, E. H.; Rouleau, G. A.; Figlewicz, D. A.: Hereditary spastic paraplegia: LOD-score considerations for confirmation of linkage in a heterogeneous trait. Am. J. Hum. Genet. 60: 625-629, 1997.
[0012636]3224.Durr, A.; Brice, A.; Serdaru, M.; Rancurel, G.; Derouesne, C.; Lyon-Caen, O.; Agid, Y.; Fontaine, B.: The phenotype of 'pure' autosomal dominant spastic paraplegia. Neurology 44: 1274-1277, 1994.
[0012637]3225.Fink, J. K.: Advances in hereditary spastic paraplegia. Curr. Opin. Neurol. 10: 313-318, 1997.
[0012638]3226.Fink, J. K.; Heiman-Patterson, T.; Bird, T.; Cambi, F.; Dube, M.-P.; Figlewicz, D. A.; Haines, J. L.; Hentati, A.; Pericak-Vance, M. A.; Raskind, W.; Rouleau, G. A.; Siddique, T.: Hereditary spastic paraplegia: advances in genetic research. Neurology 46: 1507-1514, 1996.
[0012639]3227.Garland, H. G.; Astley, C. E.: Hereditary spastic paraplegia with amyotrophy and pes cavus. J. Neurol. Neurosurg. Psychiat. 13: 130-133, 1950.
[0012640]3228.Gispert, S.; Santos, N.; Damen, R.; Voit, T.; Schulz, J.; Klockgether, T.; Orozco, G.; Kreuz, F.; Weissenbach, J.; Auburger, G.: Autosomal dominant familial spastic paraplegia: reduction of the FSP1 candidate region on chromosome 14q to 7 cM and locus heterogeneity. Am. J. Hum. Genet. 56: 183-187, 1995.
[0012641]3229.Harding, A. E.: Hereditary 'pure' spastic paraplegia: a clinical and genetic study of 22 families. J. Neurol. Neurosurg. Psychiat. 44: 871-883, 1981.
[0012642]3230.Hariga, J.; Matthys, E.: De la paraplegie spasmodique de Strumpell-Lorrain a l'amyotrophie de Charcot-Marie-Tooth: (etude d'une famille). J. Genet. Hum. 10: 326-337, 1961.
[0012643]3231.Hazan, J.; Lamy, C.; Melki, J.; Munnich, A.; de Recondo, J.; Weissenbach, J.: Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q. Nature Genet. 5: 163-167, 1993.
[0012644]3232.Hohmann, H.: Die Diplegia spastica infantilis hereditaria und ihre Beziehungen zur familiaeren spastischen Spinalparalyse. Nervenarzt 28: 323-325, 1957.
[0012645]3233.Huang, S.; Zhuyu; Li, H.; Labu; Baizhu; Lo, W. H. Y.; Fischer, C.; Vogel, F.: Another pedigree with pure autosomal dominant spastic paraplegia (AD-FSP) from Tibet mapping to 14q11.2-q24.3. Hum. Genet. 100: 620-623, 1997.
[0012646]3234.McKusick, V. A.: Personal Communication. Baltimore, Md. 1965.
[0012647]3235.McLeod, J. G.; Morgan, J. A.; Reye, C.: Electrophysiological studies in familial spastic paraplegia. J. Neurol. Neurosurg. Psychiat. 40: 611-615, 1977.
[0012648]3236.Muglia, M.; Magariello, A.; Nicoletti, G.; Patitucci, A.; Gabriele, A. L.; Conforti, F. L.; Mazzei, R.; Caracciolo, M.; Ardito, B.; Lastilla, M.; Tedeschi, G.; Quattrone, A.: Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia. Ann. Neurol. 51: 794-795, 2002.
[0012649]3237.Opjordsmoen, S.; Nyberg-Hansen, R.: Hereditary spastic paraplegia with neurogenic bladder disturbances and syndactyly. Acta Neurol. Scand. 61: 35-41, 1980.
[0012650]3238.Polo, J. M.; Calleja, J.; Combarros, O.; Berciano, J.: Hereditary 'pure' spastic paraplegia: a study of nine families. J. Neurol. Neurosurg. Psychiat. 56: 175-181, 1993.
[0012651]3239.Rainier, S.; Hedera, P.; Alvarado, D.; Zhao, X.; Kleopa, K. A.; Heiman-Patterson, T.; Fink, J. K.: Hereditary spastic paraplegia linked to chromosome 14q11-q21: reduction of the SPG3 locus interval from 5.3 to 2.7 cM. J. Med. Genet. 39: , 2001. Note: Electronic Article.
[0012652]3240.Brose, N.; Petrenko, A. G.; Sudhof, T. C.; Jahn, R.: Synaptotagmin: a calcium sensor on the synaptic vesicle surface. Science 256: 1021-1025, 1992.
[0012653]3241.Fernandez-Chacon, R.; Konigstorfer, A.; Gerber, S. H.; Garcia, J.; Matos, M. F.; Stevens, C. F.; Brose, N.; Rizo, J.; Rosenmund, C.; Sudhof, T. C.: Synaptotagmin I functions as a calcium regulator of release probability. Nature 410: 41-49, 2001.
[0012654]3242.Geppert, M.; Archer, B. T., III; Sudhof, T. C.: Synaptotagmin II: a novel differentially distributed form of synaptotagmin. J. Biol. Chem. 266: 13548-13552, 1991.
[0012655]3243.Hilbush, B. S.; Morgan, J. I.: A third synaptotagmin gene, Syt3, in the mouse. Proc. Nat. Acad. Sci. 91: 8195-8199, 1994.
[0012656]3244.Jones, J. M.; Popma, S. J.; Mizuta, M.; Seino, S.; Meisler, M. H.: Synaptotagmin genes on mouse chromosomes 1, 7, and 10 and human chromosome 19. Mammalian Genome 6: 212-213, 1995.
[0012657]3245.Kwon, O.-J.; Adamson, M. C.; Chin, H.; Kozak, C. A.: Genetic mapping of five mouse genes encoding synaptotagmins. Mammalian Genome 6: 880-881, 1995.
[0012658]3246.Mackler, J. M.; Drummond, J. A.; Loewen, C. A.; Robinson, I. M.; Reist, N. E.: The C2B Ca(2+)-binding motif of synaptotagmin is required for synaptic transmission in vivo. Nature 418: 340-344, 2002.
[0012659]3247.Perin, M. S.; Fried, V. A.; Mignery, G. A.; Jahn, R.; Sudhof, T. C.: Phospholipid binding by a synaptic vesicle protein homologous to the regulatory region of protein kinase C. Nature 345: 260-263, 1990.
[0012660]3248.Perin, M. S.; Johnston, P. A.; Ozcelik, T.; Jahn, R.; Francke, U.; Sudhof, T. C.: Structural and functional conservation of synaptotagmin (p65) in Drosophila and humans. J. Biol. Chem. 266: 615-622, 1991.
[0012661]3249.Robinson, I. M.; Ranjan, R.; Schwarz, T. L.: Synaptotagmins I and IV promote transmitter release independently of Ca(2+) binding in the C2A domain. Nature 418: 336-340, 2002.
[0012662]3250.Shin, O.-H.; Rizo, J.; Sudhof, T. C.: Synaptotagmin function in dense core vesicle exocytosis studied in cracked PC12 cells. Nature Neurosci. 5: 649-656, 2002.
[0012663]3251.Wang, C.-T.; Grishanin, R.; Earles, C. A.; Chang, P. Y.; Martin, T. F. J.; Chapman, E. R.; Jackson, M. B.: Synaptotagmin modulation of fusion pore kinetics in regulated exocytosis of densecore vesicles. Science 294: 1111-1115, 2001.
[0012664]3252.Magoulas, C.; Fried, M.: The Surf-6 gene of the mouse surfeit locus encodes a novel nucleolar protein. DNA Cell Biol. 15: 305-316, 1996.
[0012665]3253.Boehm, T.; Baer, R.; Lavenir, I.; Forster, A.; Waters, J. J.; Nacheva, E.; Rabbitts, T. H.: The mechanism of chromosomal translocation t(11;14) involving the T-cell receptor C-delta locus on human chromosome 14q11 and a transcribed region of chromosome 11p15. EMBO J. 7: 385-394, 1988.
[0012666]3254.Begley, C. G.; Aplan, P. D.; Davey, M. P.; Nakahara, K.; Tchorz, K.; Kurtzberg, J.; Hershfield, M. S.; Haynes, B. F.; Cohen, D. I.; Waldmann, T. A.; Kirsch, I. R.: Chromosomal translocation in a human leukemic stem-cell line disrupts the T-cell antigen receptor delta-chain diversity region and results in a previously unreported fusion transcript. Proc. Nat. Acad. Sci. 86: 2031-2035, 1989.
[0012667]3255.Aruffo, A.; Seed, B.: Molecular cloning of two CD7 (T-cell leukemia antigen) cDNAs by a COS cell expression system. EMBO J. 6: 3313-3316, 1987.
[0012668]3256.Baker, E.; Sandrin, M. S.; Garson, O. M.; Sutherland, G. R.; McKenzie, I. F. C.; Webber, L. M.: Localization of the cell surface antigen CD7 by chromosomal in situ hybridization. Immunogenetics 31: 412-413, 1990.
[0012669]3257.Bonilla, F. A.; Kokron, C. M.; Swinton, P.; Geha, R. S.: Targeted gene disruption of murine CD7. Int. Immun. 9: 1875-1883, 1997.
[0012670]3258.Jung, L. K. L.; Fu, S. M.; Hara, T.; Kapoor, N.; Good, R. A.: Defective expression of T cell-associated glycoprotein in severe combined immunodeficiency. J. Clin. Invest. 77: 940-946, 1986.
[0012671]3259.Osada, S.; Utsumi, K. R.; Ueda, R.; Akao, Y.; Tsuge, I.; Nishida, K.; Okada, J.; Matsuoka, H.; Takahashi, T.: Assignment of a gene coding for a human T-cell antigen with a molecular weight of 40,000 daltons to chromosome 17. Cytogenet. Cell Genet. 47: 8-10, 1988.
[0012672]3260.Schanberg, L. E.; Fleenor, D. E.; Kurtzberg, J.; Haynes, B. F.; Kaufman, R. E.: Isolation and characterization of the genomic human CD7 gene: structural similarity with the murine Thy-1 gene. Proc. Nat. Acad. Sci. 88: 603-607, 1991.
[0012673]3261.Yoshikawa, K.; Seto, M.; Ueda, R.; Obata, Y.; Notake, K.; Yokochi, T.; Takahashi, T.: Molecular cloning of the gene coding for the human T cell differentiation antigen CD7. Immunogenetics 33: 352-360, 1991.
[0012674]3262.Simon, S.; Awdeh, Z.; Campbell, R. D.; Ronco, P., II; Brink, S. J.; Eisenbarth, G. S.; Yunis, E. J.; Alper, C. A.: A restriction fragment of the C2 gene is a unique marker for C2 deficiency and the uncommon C2 allele C2*B (a marker for type 1 diabetes). J. Clin. Invest. 88: 2142-2145, 1991.
[0012675]3263.Thong, Y. H.; Simpson, D. A.; Muller-Eberhard, H. J.: Homozygous deficiency of the second component of complement presenting with recurrent bacterial meningitis. Arch. Dis. Child. 55: 471-473, 1980.
[0012676]3264.Tokunaga, K.; Araki, C.; Juji, T.; Omoto, K.: Polymorphism of properdin factor B in Japanese: description of a rare variant and data of association with HLA and C2. Hum. Genet. 60: 42-45, 1982.
[0012677]3265.Tokunaga, K.; Araki, C.; Juji, T.; Omoto, K.: Genetic polymorphism of the complement C2 in Japanese. Hum. Genet. 58: 213-216, 1981.
[0012678]3266.Wahl, R.; Meo, T.; Shreffler, D.; Miller, W.; Atkinson, J. P.; Schultz, J.; Osterland, C. K.: C2 deficiency and a lupus erythematosus-like illness: family re-evaluation. (Letter) Ann. Intern. Med. 90: 717-718, 1979.
[0012679]3267.Wetsel, R. A.; Kulics, J.; Lokki, M.-L.; Kiepiela, P.; Akama, H.; Johnson, C. A. C.; Densen, P.; Colten, H. R.: Type II human complement C2 deficiency: allele-specific amino acid substitutions (ser189-to-phe; gly444-to-arg) cause impaired C2 secretion. J. Biol. Chem. 271: 5824-5831, 1996.
[0012680]3268.WHO-IUIS Nomenclature Sub-Committee: Nomenclature for human complement component C2*2. Europ. J. Immunogenet. 20: 299-300, 1993.
[0012681]3269.Wolski, K. P.; Schmid, F. R.; Mittal, K. K.: Genetic linkage between the HL-A system and a deficit of the second component (C2) of complement in four generations of a family. Tissue Antigens 7: 35-38, 1976.
[0012682]3270.Kikuchi, M.; Tayama, T.; Hayakawa, H.; Takahashi, I.; Hoshino, H.; Ohsaka, A.: Familial thrombocytosis. Brit. J. Haemat. 89: 900-902, 1995.
[0012683]3271.Wiestner, A.; Schlemper, R. J.; van der Maas, A. P. C.; Skoda, R. C.: An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia. Nature Genet. 18: 49-52, 1998.
[0012684]3272.European Working Group on CF Genetics: Gradient of distribution in Europe of the major CF mutation and of its associated haplotype. Hum. Genet. 85: 436-445, 1990.
[0012685]3273.Fanen, P.; Ghanem, N.; Vidaud, M.; Besmond, C.; Martin, J.; Costes, B.; Plassa, F.; Goossens, M.: Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions. Genomics 13: 770-776, 1992.
[0012686]3274.Ruivenkamp, C. A. L.; van Wezel, T.; Zanon, C.; Stassen, A. P. M.; Vlcek, C.; Csikos, T.; Klous, A. M.; Tripodis, N.; Perrakis, A.; Boerrigter, L.; Groot, P. C.; Lindeman, J.; Mooi, W. J.; Meijjer, G. A.; Scholten, G.; Dauwerse, H.; Paces, V.; van Zandwijk, N.; van Ommen, G. J. B.; Demant, P.: Ptprj is a candidate for the mouse colon-cancer susceptibility locus Scc1 and is frequently deleted in human cancers. Nature Genet. 31: 295-300, 2002.
[0012687]3275.Watanabe, T.; Mukouyama, Y.; Rhodes, M.; Thomas, M.; Kume, T.; Oishi, M.: Chromosomal location of murine protein tyrosine phosphatase (Ptprj and Ptpre) genes. Genomics 29: 793-795, 1995.
[0012688]3276.Elson, A.; Kozak, C. A.; Morton, C. C.; Weremowicz, S.; Leder, P.: The protein tyrosine phosphatase epsilon gene maps to mouse chromosome 7 and human chromosome 10q26. Genomics 31: 373-375, 1996.
[0012689]3277.Krueger, N. X.; Streuli, M.; Saito, H.: Structural diversity and evolution of human receptor-like protein tyrosine phosphatases. EMBO J. 9: 3241-3252, 1990.
[0012690]3278.Melhado, I. G.; Anderson, L. L.; Duncan, A. M. V.; Jirik, F. R. : The gene encoding protein-tyrosine phosphatase RPTP-epsilon (PTPRE) is assigned to human chromosome 10q26. Cytogenet. Cell Genet. 73: 168-170, 1996.
[0012691]3279.Banerjee, P.; Kleyn, P. W.; Knowles, J. A.; Lewis, C. A.; Ross, B. M.; Parano, E.; Kovats, S. G.; Lee, J. J.; Penchaszadeh, G. K.; Ott, J.; Jacobson, S. G.; Gilliam, T. C.: TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa. Nature Genet. 18: 177-179, 1998.
[0012692]3280.Hagstrom, S. A.; North, M. A.; Nishina, P. M.; Berson, E. L.; Dryja, T. P.: Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa. Nature Genet. 18: 174-176, 1998.
[0012693]3281.Knowles, J. A.; Shugart, Y.; Banerjee, P.; Gilliam, T. C.; Lewis, C. A.; Jacobson, S. G.; Ott, J.: Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p. Hum. Molec. Genet. 3: 1401-1403, 1994.
[0012694]3282.Iivanainen, A.; Sainio, K.; Sariola, H.; Tryggvason, K.: Primary structure and expression of a novel human laminin alpha-4 chain. FEBS Lett. 365: 183-188, 1995.
[0012695]3283.Richards, A. J.; Al-Imara, L.; Carter, N. P.; Lloyd, J. C.; Leversha, M. A.; Pope, F. M.: Localization of the gene (LAMA4) to chromosome 6q21 and isolation of a partial cDNA encoding a variant laminin A chain. Genomics 22: 237-239, 1994.
[0012696]3284.Richards, A. J.; Al-Imara, L.; Carter, N. P.; Lloyd, J. C.; Pope, F. M.: A laminin A variant gene (LAMA3) is present on chromosome 6q21 (Abstract) J. Med. Genet. 31: 164, 1994.
[0012697]3285.Dorow, D. S.; Devereux, L.; Dietzsch, E.; De Kretser, T.: Identification of a new family of human epithelial protein kinases containing two leucine/isoleucine-zipper domains. Europ. J. Biochem. 213: 701-710, 1993.
[0012698]3286.Hanks, S. K.: Eukaryotic protein kinases. Curr. Opin. Struct. Biol. 1: 369-383, 1991.
[0012699]3287.Cairns, P.; Polascik, T. J.; Eby, Y.; Tokino, K.; Califano, J.; Merlo, A.; Mao, L.; Herath, J.; Jenkins, R.; Westra, W.; Rutter, J. L.; Buckler, A.; Gabrielson, E.; Tockman, M.; Cho, K. R.; Hedrick, L.; Bova, G. S.; Isaacs, W.; Koch, W.; Schwab, D.; Sidransky, D.: Frequency of homozygous deletion at p16/CDKN2 in primary human tumours. Nature Genet. 11: 210-212, 1995.
[0012700]3288.Ciotti, P.; Strigini, P.; Bianchi-Scarra, G.: Familial melanoma and pancreatic cancer.(Letter) New Eng. J. Med. 334: 469-470, 1996.
[0012701]3289.Ciotti, P.; Struewing, J. P.; Mantelli, M.; Chompret, A.; Avril, M.-F.; Santi, P. L.; Tucker, M. A.; Bianchi-Scarra, G.; Bressac-de Paillerets, B.; Goldstein, A. M.: A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families. Am. J. Hum. Genet. 67: 311-319, 2000.
[0012702]3290.Cowan, J. M.; Halaban, R.; Francke, U.: Cytogenetic analysis of melanocytes from premalignant nevi and melanomas. J. Nat. Cancer Inst. 80: 1159-1164, 1988.
[0012703]3291.Della Torre, G.; Pasini, B.; Frigerio, S.; Donghi, R.; Rovini, D.; Delia, D.; Peters, G.; Huot, T. J. G.; Bianchi-Scarra, G.; Lantieri, F.; Rodolfo, M.; Parmiani, G.; Pierotti, M. A.: CDKN2A and CDK4 mutation analysis in Italian melanoma-prone families: functional characterization of a novel CDKN2A germ line mutation. Brit. J. Cancer 85: 836-844, 2001.
[0012704]3292.Dracopoli, N. C.; Fountain, J. W.: CDKN2 mutations in melanoma. Cancer Surv. 26: 115-132, 1996.
[0012705]3293.Fargnoli, M. C.; Chimenti, S.; Keller, G.; Soyer, H. P.; Dal Pozzo, V.; Hofler, H.; Peris, K.: CDKN2a/p16(INK4a) mutations and lack of p19(ARF) involvement in familial melanoma kindreds. J. Invest. Derm. 111: 1202-1206, 1998.
[0012706]3294.FitzGerald, M. G.; Harkin, D. P.; Silva-Arrieta, S.; MacDonald, D. J.; Lucchina, L. C.; Unsal, H.; O'Neil, E.; Koh, J.; Finkelstein, D. M.; Isselbacher, K. J.; Sober, A. J.; Haber, D. A.: Prevalence of germ-line mutations in p16, p19ARF, and CDK4 in familial melanoma: analysis of a clinicbased population. Proc. Nat. Acad. Sci. 93: 8541-8545, 1996.
[0012707]3295.Flores, J. F.; Pollock, P. M.; Walker, G. J.; Glendening, J. M.; Lin, A. H.; Palmer, J. M.; Walters, M. K.; Hayward, N. K.; Fountain, J. W.: Analysis of the CDKN2A, CDKN2B and CDK4 genes in 48 Australian melanoma kindreds. Oncogene 15: 2999-3005, 1997.
[0012708]3296.Goldstein, A. M.; Fraser, M. C.; Struewing J. P.; Hussussian, C. J.; Ranade, K.; Zametkin, D. P.; Fontaine, L. S.; Organic, S. M.; Dracopoli, N. C.; Clark, W. H., Jr.; Tucker, M. A.: Increased risk of pancreatic cancer in melanoma-prone kindreds with p16 (INK4) mutations. New Eng. J. Med. 333: 970-974, 1995.
[0012709]3297.Goldstein, A. M.; Liu, L.; Shennan, M. G.; Hogg, D.; Tucker, M. A.; Struewing, J. P.: A common founder for the V126D CDKN2A mutation in seven North American melanoma-prone families. Brit. J. Cancer 85: 527-530, 2001.
[0012710]3298.Gruis, N. A.; van der Velden, P. A.; Sandkuijl, L. A.; Prins, D. E.; Weaver-Feldhaus, J.; Kamb, A.; Bergman, W.; Frants, R. R.: Homozygotes for CDKN2 (p16) germline mutation in Dutch familial melanoma kindreds. Nature Genet. 10: 351-353, 1995.
[0012711]3299.Harland, M.; Meloni, R.; Gruis, N.; Pinney, E.; Brookes, S.; Spurr, N. K.; Frischauf, A.-M.; Bataille, V.; Peters, G.; Cuzick, J.; Selby, P.; Bishop, D. T.; Bishop, J. N.: Germline mutations of the CDKN2 gene in UK melanoma families. Hum. Molec. Genet. 6: 2061-2067, 1997.
[0012712]3300.Harland, M.; Mistry, S.; Bishop, D. T.; Bishop, J. A. N.: A deep intronic mutation in CDKN2A is associated with disease in a subset of melanoma pedigrees. Hum. Molec. Genet. 10: 2679-2686, 2001.
[0012713]3301.Hashemi, J.; Bendahl, P.-O.; Sandberg, T.; Platz, A.; Linder, S.; Stierner, U.; Olsson, H.; Ingvar, C.; Hansson, J.; Borg, A.: Haplotype analysis and age estimation of the 113insR CDKN2A founder mutation in Swedish melanoma families. Genes Chromosomes Cancer 31: 107-116, 2001.
[0012714]3302.Hayward, N. K.: The current situation with regard to human melanoma and genetic inferences. Curr. Opin. Oncol. 8: 136-142, 1996.
[0012715]3303.Hebert, J.; Cayuela, J. M.; Berkeley, J.; Sigaux, F.: Candidate tumor-suppressor genes MTS1 (p16INK4A) and MTS2 (p15INK4B) display frequent homozygous deletions in primary cells from T- but not from B-cell lineage acute lymphoblastic leukemias. Blood 84: 4038-4044, 1994.
[0012716]3304.Holland, E. A.; Beaton, S. C.; Becker, T. M.; Grulet, O. M.; Peters, B. A.; Rizos, H.; Kefford, R. F.; Mann, G. J.: Analysis of the p16 gene, CDKN2, in 17 Australian melanoma kindreds. Oncogene 11: 2289-2294, 1995.
[0012717]3305.Hussussian, C. J.; Struewing, J. P.; Goldstein, A. M.; Higgins, P. A. T.; Ally, D. S.; Sheahan, M. D.; Clark, W. H., Jr.; Tucker, M. A.; Dracopoli, N. C.: Germline p16 mutations in familial melanoma. Nature Genet. 8: 15-21, 1994.
[0012718]3306.Igaki, H.; Sasaki, H.; Kishi, T.; Sakamoto, H.; Tachimori, Y.; Kato, H.; Watanabe, H.; Sugimura, T.; Terada, M.: Highly frequent homozygous deletion of the p16 gene in esophageal cancer cell lines. Biochem. Biophys. Res. Commun. 203: 1090-1095, 1994.
[0012719]3307.Balczon, R.; Bao, L.; Zimmer, W. E.: PCM-1, a 228-kD centrosome autoantigen with a distinct cell cycle distribution. J. Cell Biol. 124: 783-793, 1994.
[0012720]3308.Tapia, C.; Featherstone, T.; Gomez, C.; Taillon-Miller, P.; Allende, C. C.; Allende, J. E.: Cloning and chromosomal localization of the gene coding for human protein kinase CK1. FEBS Lett. 349: 307-312, 1994.
[0012721]3309.Cardon, L. R.; Smith, S. D.; Fulker, D. W.; Kimberling, W. J.; Pennington, B. F.; DeFries, J. C.: Quantitative trait locus for reading disability on chromosome 6. Science 266: 276-279, 1994. Note: Erratum: Science 268: 1553 only, 1995.
[0012722]3310.Field, L. L.; Kaplan, B. J.: Absence of linkage of phonological coding dyslexia to chromosome 6p23-p21.3 in a large family data set. Am. J. Hum. Genet. 63: 1448-1456, 1998.
[0012723]3311.Fisher, S. E.; Francks, C.; Marlow, A. J.; MacPhie, I. L.; Newbury, D. F.; Cardon, L. R.; Ishikawa-Brush, Y.; Richardson, A. J.; Talcott, J. B.; Gayan, J.; Olson, R. K.; Pennington, B. F.; Smith, S. D.; DeFries, J. C.; Stein, J. F.; Monaco, A. P.: Independent genome-wide scans identify a chromosome 18 quantitative-trait locus influencing dyslexia. Nature Genet. 30: 86-91, 2002.
[0012724]3312.Fisher, S. E.; Marlow, A. J.; Lamb, J.; Maestrini, E.; Williams, D. F.; Richardson, A. J.; Weeks, D. E.; Stein, J. F.; Monaco, A. P. : A quantitative-trait locus on chromosome 6p influences different aspects of developmental dyslexia. Am. J. Hum. Genet. 64: 146-156, 1999.
[0012725]3313.Gayan, J.; Smith, S. D.; Cherny, S. S.; Cardon, L. R.; Fulker, D. W.; Brower, A. M.; Olson, R. K.; Pennington, B. F.; DeFries, J. C.: Quantitative-trait locus for specific language and reading deficits on chromosome 6p. Am. J. Hum. Genet. 64: 157-164, 1999.
[0012726]3314.Kaplan, D. E.; Gayan, J.; Ahn, J.; Won, T.-W.; Pauls, D.; Olson, R. K.; DeFries, J. C.; Wood, F.; Pennington, B. F.; Page, G. P.; Smith, S. D.; Gruen, J. R.: Evidence for linkage and association with reading disability, on 6p21.3-22. Am. J. Hum. Genet. 70: 1287-1298, 2002.
[0012727]3315.Smith, S. D.; Kimberling, W. J.; Pennington, B. F.: Screening for multiple genes influencing dyslexia. Reading Writing 3: 285-298, 1991.
[0012728]3316.Fazioli, F.; Minichiello, L.; Matoska, V.; Castagnino, P.; Miki, T.; Wong, W. T.; Di Fiore, P. P.: Eps8, a substrate for the epidermal growth factor receptor kinase, enhances EGF-dependent mitogenic signals. EMBO J. 12: 3799-3808, 1993.
[0012729]3317.Corvi, R.; Berger, N.; Balczon, R.; Romeo, G.: RET/PCM-1: a novel fusion gene in papillary thyroid carcinoma. Oncogene 19: 4236-4242, 2000.
[0012730]3318.Ohata, H.; Fujiwara, Y.; Koyama, K.; Nakamura, Y.: Mapping of the human autoantigen pericentriolar material 1 (PCM1) gene to chromosome 8p21.3-p22. Genomics 24: 404-406, 1994.
[0012731]3319.Aoki, M.; Lin, C. L.; Rothstein, J. D.; Geller, B. A.; Hosler, B. A.; Munsat, T. L.; Horvitz, H. R.; Brown, R. H.: Mutations in the glutamate transporter EAAT2 gene do not cause abnormal EAAT2 transcripts in amyotrophic lateral sclerosis. Ann. Neurol. 43: 645-653, 1998.
[0012732]3320.Flowers, J. M.; Powell, J. F.; Leigh, P. N.; Andersen, P.; Shaw, C. E.: Intron 7 retention and exon 9 skipping EAAT2 mRNA variants are not associated with amyotrophic lateral sclerosis. Ann. Neurol. 49: 643-649, 2001.
[0012733]3321.Herault, J.; Martineau, J.; Petit, E.; Perrot, A.; Sauvage, D.; Barthelemy, C.; Mallet, J.; Muh, J. P.; Lelord, G.: Genetic markers in autism: association study on short arm of chromosome 11. J. Autism Dev. Dis. 24: 233-236, 1994.
[0012734]3322.Honig, L. S.; Chambliss, D. D.; Bigio, E. H.; Carroll, S. L.; Elliott, J. L.: Glutamate transporter EAAT2 splice variants occur not only in ALS, but also in AD and controls. Neurology 55: 1082-1088, 2000.
[0012735]3323.Kanai, Y.; Smith, C. P.; Hediger, M. A.: The elusive transporters with a high affinity for glutamate. Trends Neurosci. 16: 365-730, 1993.
[0012736]3324.Kirschner, M. A.; Copeland, N. G.; Gilbert, D. J.; Jenkins, N. A.; Amara, S. G.: Mouse excitatory amino acid transporter EAAT2: isolation, characterization, and proximity to neuroexcitability loci on mouse chromosome 2. Genomics 24: 218-224, 1994.
[0012737]3325.Krishnan, S. N.; Desai, T.; Wyman, R. J.; Haddad, G. G.: Cloning of a glutamate transporter from human brain. Soc. Neurosci. Abstr. 19: 219 only, 1993.
[0012738]3326.Li, X.; Francke, U.: Assignment of the gene SLC1A2 coding for the human glutamate transporter EAAT2 to human chromosome 11 bands p13-p12. Cytogenet. Cell Genet. 71: 212-213, 1995.
[0012739]3327.Lin, C.-L. G.; Bristol, L. A.; Jin, L.; Dykes-Hoberg, M.; Crawford, T.; Clawson, L.; Rothstein, J. D.: Aberrant RNA processing in a neurodegenerative disease: the cause for absent EAAT2, a glutamate transporter, in amyotrophic lateral sclerosis. Neuron 20: 589-602, 1998.
[0012740]3328.Meyer, T.; Munch, C.; Volkel, H.; Booms, P.; Ludolph, A. C.: The EAAT2 (GLT-1) gene in motor neuron disease: absence of mutations in amyotrophic lateral sclerosis and a point mutation in patients with hereditary spastic paraplegia. J. Neurol. Neurosurg. Psychiat. 65: 594-596, 1998.
[0012741]3329.Takai, S.; Kawakami, H.; Nakayama, T.; Yamada, K.; Nakamura, S. : Localization of the gene encoding the human L-glutamate transporter (GLT-1) to 11p11.2-p13 by fluorescence in situ hybridization. Hum. Genet. 97: 387-389, 1996.
[0012742]3330.Tanaka, K.; Watase, K.; Manabe, T.; Yamada, K.; Watanabe, M.; Takahashi, K.; Iwama, H.; Nishikawa, T.; Ichihara, N.; Kikuchi, T.; Okuyama, S.; Kawashima, N.; Hori, S.; Takimoto, M.; Wada, K.: Epilepsy and exacerbation of brain injury in mice lacking the glutamate transporter GLT-1. Science 276: 1699-1702, 1997.
[0012743]3331.Trotti, D.; Aoki, M.; Pasinelli, P.; Berger, U. V.; Danbolt, N. C.; Brown, R. H., Jr.; Hediger, M. A.: Amyotrophic lateral sclerosis-linked glutamate transporter mutant has impaired glutamate clearance capacity. J. Biol. Chem. 276: 576-582, 2001.
[0012744]3332.Andresen, B. S.; Christensen, E.; Corydon, T. J.; Bross, P.; Pilgaard, B.; Wanders, R. J. A.; Ruiter, J. P. N.; Simonsen, H.; Winter, V.; Knudsen, I.; Schroeder, L. D.; Gregersen, N.; Skovby, F.: Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism. Am. J. Hum. Genet. 67: 1095-1103, 2000.
[0012745]3333.Arden, K. C.; Viars, C. S.; Fu, K.; Rozen, R.: Localization of short/branched chain acyl-CoA dehydrogenase (ACADSB) to human chromosome 10. Genomics 25: 743-745, 1995.
[0012746]3334.Gibson, K. M.; Burlingame, T. G.; Hogema, B.; Jakobs, C.; Schutgens, R. B. H.; Millington, D.; Roe, C. R.; Roe, D. S.; Sweetman, L.; Steiner, R. D.; Linck, L.; Pohowalla, P.; Sacks, M.; Kiss, D.; Rinaldo, P.; Vockley, J.: 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism. Pediat. Res. 47: 830-833, 2000.
[0012747]3335.Rozen, R.; Vockley, J.; Zhou, L.; Milos, R.; Willard, J.; Fu, K.; Vicanek, C.; Low-Nang, L.; Torban, E.; Fournier, B.: Isolation and expression of a cDNA encoding the precursor for a novel member (ACADSB) of the acyl-CoA dehydrogenase gene family. Genomics 24: 280-287, 1994.
[0012748]3336.Takai, S.; Tanaka, M.; Sugimura, H.; Yamada, K.; Naito, Y.; Kino, I.; Matsuda, M.: Mapping of the human C3G gene coding a guanine nucleotide releasing protein for Ras family to 9q34.3 by fluorescence in situ hybridization. Hum. Genet. 94: 549-550, 1994.
[0012749]3337.Tanaka, S.; Morishita, T.; Hashimoto, Y.; Hattori, S.; Nakamura, S.; Shibuya, M.; Matsuoka, K.; Takenawa, T.; Kurata, T.; Nagashima, K.; Matsuda, M.: C3G, a guanine nucleotidereleasing protein expressed ubiquitously, binds to the Src homology 3 domains of CRK and GRB2/ASH proteins. Proc. Nat. Acad. Sci. 91: 3443-3447, 1994.
[0012750]3338.McCusker, D.; Jones, T.; Sheer, D.; Trowsdale, J.: Genetic relationships of the genes encoding the human proteasome beta subunits and the proteasome PA28 complex. Genomics 45: 362-367, 1997.
[0012751]3339.Kumar, S.; Tomooka, Y.; Noda, M.: Identification of a set of genes with developmentally down-regulated expression in the mouse brain. Biochem. Biophys. Res. Commun. 185: 1155-1161, 1992.
[0012752]3340.Carmi, R.; Rokhlina, T.; Kwitek-Black, A. E.; Elbedour, K.; Nishimura, D.; Stone, E. M.; Sheffield, V. C.: Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15. Hum. Molec. Genet. 4: 9-13, 1995.
[0012753]3341.Dallapiccola, B.: Familial translocation t(2p-; 17p+). Ann. Genet. 14: 153-155, 1971.
[0012754]3342.Katsanis, N.; Eichers, E. R.; Ansley, S. J.; Lewis, R. A.; Kayserili, H.; Hoskins, B. E.; Scambler, P. J.; Beales, P. L.; Lupski, J. R. : BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. Am. J. Hum. Genet. 71: 22-29, 2002.
[0012755]3343.Losson, R.; Lacroute, F.: Interference of nonsense mutations with eukaryotic messenger RNA stability. Proc. Nat. Acad. Sci. 76: 5134-5137, 1979.
[0012756]3344.Mykytyn, K. Braun, T.; Carmi, R.; Haider, N. B.; Searsby, C. C.; Shastri, M.; Beck, G.; Wright, A. F.; Iannaccone, A.; Elbedour, K.; Riise, R.; Baldi, A.; Raas-Rothschild, A.; Gorman, S. W.; Duhl, D. M.; Jacobson, S. G.; Casavant, T.; Stone, E. M.; Sheffield, V. C. : Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. Nature Genet. 28: 188-191, 2001.
[0012757]3345.Braybrooke, J. P.; Spink, K. G.; Thacker, J.; Hickson, I. D.: The RAD51 family member, RAD51L3, is a DNA-stimulated ATPase that forms a complex with XRCC2. J. Biol. Chem. 275: 29100-29106, 2000.
[0012758]3346.Johnson, R. D.; Liu, N.; Jasin, M.: Mammalian XRCC2 promotes the repair of DNA double-strand breaks by homologous recombination. Nature 401: 397-399, 1999.
[0012759]3347.Jones, N. J.; Cox, R.; Thacker, J.: Isolation and cross-sensitivity of x-ray-sensitive mutants of V79-4 hamster cells. Mutat. Res. 183: 279-286, 1987.
[0012760]3348.Jones, N. J.; Zhao, Y.; Siciliano, M. J.; Thompson, L. H.: Assignment of the XRCC2 human DNA repair gene to chromosome 7q36 by complementation analysis. Genomics 26: 619-622, 1995.
[0012761]3349.Kurumizaka, H.; Ikawa, S.; Nakada, M.; Enomoto, R.; Kagawa, W.; Kinebuchi, T.; Yamazoe, M.; Yokoyama, S.; Shibata, T.: Homologous pairing and ring and filament structure formation activities of the human Xrcc2-Rad51D complex. J. Biol. Chem. 277: 14315-14320, 2002.
[0012762]3350.Liu, N.; Schild, D.; Thelen, M. P.; Thompson, L. H.: Involvement of Rad51C in two distinct protein complexes of Rad51 paralogs in human cells. Nucleic Acids Res. 30: 1009-1015, 2002.
[0012763]3351.Masson, J.-Y.; Tarsounas, M. C.; Stasiak, A. Z.; Stasiak, A.; Shah, R.; McIlwraith, M. J.; Benson, F. E.; West, S. C.: Identification and purification of two distinct complexes containing the five RAD51 paralogs. Genes Dev. 15: 3296-3307, 2001.
[0012764]3352.Tambini, C. E.; George, A. M.; Rommens, J. M.; Tsui, L.-C.; Scherer, S. W.; Thacker, J.: The XRCC2 DNA repair gene: identification of a positional candidate. Genomics 41: 84-92, 1997.
[0012765]3353.Thacker, J.; Tambini, C. E.; Simpson, P. J.; Tsui, L.-C.; Scherer, S. W.: Localization to chromosome 7q36.1 of the human XRCC2 gene, determining sensitivity to DNA-damaging agents. Hum. Molec. Genet. 4: 113-120, 1995.
[0012766]3354.Pollock, P. M.; Spurr, N.; Bishop, T.; Newton-Bishop, J.; Gruis, N.; van der Velden, P. A.; Goldstein, A. M.; Tucker, M. A.; Foulkes, W. D.; Barnhill, R.; Haber, D.; Fountain, J.; Hayward, N. K.: Haplotype analysis of two recurrent CDKN2A mutations in 10 melanoma families: evidence for common founders and independent mutations. Hum. Mutat. 11: 424-431, 1998.
[0012767]3355.Orimo, A.; Inoue, S.; Minowa, O.; Tominaga, N.; Tomioka, Y.; Sato, M.; Kuno, J.; Hiroi, H.; Shimizu, Y.; Suzuki, M.; Noda, T.; Muramatsu, M.: Underdeveloped uterus and reduced estrogen responsiveness in mice with disruption of the estrogen-responsive finger protein gene, which is a direct target of estrogen receptor alpha. Proc. Nat. Acad. Sci. 96: 12027-12032, 1999.
[0012768]3356.Urano, T.; Saito, T.; Tsukui, T.; Fujita, M.; Hosoi, T.; Muramatsu, M.; Ouchi, Y.; Inoue, S.: Efp targets 14-3-3-sigma for proteolysis and promotes breast tumour growth. Nature 417: 871-875, 2002.
[0012769]3357.Grun, F.; Hirose, Y.; Kawauchi, S.; Ogura, T.; Umesono, K.: Aldehyde dehydrogenase 6, a cytosolic retinaldehyde dehydrogenase prominently expressed in sensory neuroepithelia during development. J. Biol. Chem. 275: 41210-41218, 2000.
[0012770]3358.Hsu, L. C.; Chang, W.-C.; Hiraoka, L.; Hsieh, C.-L.: Molecular cloning, genomic organization, and chromosomal localization of an additional human aldehyde dehydrogenase gene, ALDH6. Genomics 24: 333-341, 1994.
[0012771]3359.Kapfhamer, D.; Miller, D. E.; Lambert, S.; Bennett, V.; Glover, T. W.; Burmeister, M.: Chromosomal localization of the ankyrin-G gene (ANK3/Ank3) to human 10q21 and mouse 10. Genomics 27: 189-191, 1995.
[0012772]3360.Bennett, M.; Reed, R.: Correspondence between a mammalian spliceosome component and an essential yeast splicing factor. Science 262: 105-108, 1993.
[0012773]3361.Dresser, D. W.; Hacker, A.; Lovell-Badge, R.; Guerrier, D.: The genes for a spliceosome protein (SAP62) and the anti-Mullerian hormone (AMH) are contiguous. Hum. Molec. Genet. 4: 1613-1618, 1995.
[0012774]3362.Burks, D. J.; Font de Mora, J.; Schubert, M.; Withers, D. J.; Myers, M. G.; Towery, H. H.; Altamuro, S. L.; Flint, C. L.; White, M. F. : IRS-2 pathways integrate female reproduction and energy homeostasis. Nature 407: 377-382, 2000.
[0012775]3363.Fritsche, A.; Madaus, A.; Renn, W.; Tschritter, O.; Teigeler, A.; Weisser, M.; Maerker, E.; Machicao, F.; Haring, H.; Stumvoll, M.: The prevalent Gly1057Asp polymorphism in the insulin receptor substrate-2 gene is not associated with impaired insulin secretion. J. Clin. Endocr. Metab. 86: 4822-4825, 2001.
[0012776]3364.Kubota, N.; Tobe, K.; Terauchi, Y.; Eto, K.; Yamauchi, T.; Suzuki, R.; Tsubamoto, Y.; Komeda, K.; Nakano, R.; Miki, H.; Satoh, S.; Sekihara, H.; Sciacchitano, S.; Lesniak, M.; Aizawa, S.; Nagai, R.; Kimura, S.; Akanuma, Y.; Taylor, S. I.; Kadowaki, T.: Disruption of insulin receptor substrate 2 causes type 2 diabetes because of liver insulin resistance and lack of compensatory beta-cell hyperplasia. Diabetes 49: :-1880-1889, 2000.
[0012777]3365.Sun, X. J.; Wang, L.-M.; Zhang, Y.; Yenush, L.; Myers, M. G., Jr.; Glasheen, E.; Lane, W. S.; Pierce, J. H.; White, M. F.: Role of IRS-2 in insulin and cytokine signalling. Nature 377: 173-177, 1995.
[0012778]3366.Withers, D. J.; Burks, D. J.; Towery, H. H.; Altamuro, S. L.; Flint, C. L.; White, M. F.: Irs-2 coordinates Igf-1 receptor-mediated beta-cell development and peripheral insulin signalling. Nature Genet. 23: 32-40, 1999.
[0012779]3367.Withers, D. J.; Gutierrez, J. S.; Towery, H.; Burks, D. J.; Ren, J.-M.; Previs, S.; Zhang, Y.; Bernal, D.; Pons, S.; Shulman, G. I.; Bonner-Weir, S.; White, M. F.: Disruption of IRS-2 causes type 2 diabetes in mice. Nature 391: 900-902, 1998.
[0012780]3368.Eberle, F.; Dubreuil, P.; Mattei, M.-G.; Devilard, E.; Lopez, M. : The human PRR2 gene, related to the human poliovirus receptor gene (PVR), is the true homolog of the murine Mph gene. Gene 159: 267-272, 1995.
[0012781]3369.Morrison, M. E.; Racaniello, V. R.: Molecular cloning and expression of a murine homolog of the human poliovirus receptor gene. J. Virol. 66: 2807-2813, 1992.
[0012782]3370.Hanks, S. K.; Quinn, A. M.; Hunter, T.: The protein kinase family: conserved features and deduced phylogeny of the catalytic domains. Science 241: 42-52, 1988.
[0012783]3371.Machado, R. D.; Pauciulo, M. W.; Thomson, J. R.; Lane, K. B.; Morgan, N. V.; Wheeler, L.; Phillips, J. A., III; Newman, J.; Williams, D.; Galie, N.; Manes, A.; McNeil, K.; and 11 others: BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension. Am. J. Hum. Genet. 68: 92-102, 2001.
[0012784]3372.Wong, W. T.; Carlomagno, F.; Druck, T.; Barletta, C.; Croce, C. M.; Huebner, K.; Kraus, M. H.; Di Fiore, P. P.: Evolutionary conservation of the EPS8 gene and its mapping to human chromosome 12q23-q24. Oncogene 9: 3057-3061, 1994.
[0012785]3373.Kobayashi, M.; Takamatsu, K.; Fujishiro, M.; Saitoh, S.; Noguchi, T.: Molecular cloning of a novel calcium-binding protein structurally related to hippocalcin from human brain and chromosomal mapping of its gene. Biochim. Biophys. Acta 1222: 515-518, 1994.
[0012786]3374.Avraham, K. B.; Levanon, D.; Negreanu, V.; Bernstein, Y.; Groner, Y.; Copeland, N. G.; Jenkins, N. A.: Mapping of the mouse homolog of the human runt domain gene, AML2, to the distal region of mouse chromosome 4. Genomics 25: 603-605, 1995.
[0012787]3375.Bae, S.-C.; Takahashi, E.; Zhang, Y. W.; Ogawa, E.; Shigesada, K.; Namba, Y.; Satake, M.; Ito, Y.: Cloning, mapping and expression of PEBP2-alpha-C, a third gene encoding the mammalian Runt domain. Gene 159: 245-248, 1995.
[0012788]3376.Inoue, K,; Ozaki, S.; Shiga, T.; Ito, K.; Masuda, T.; Okado, N.; Iseda, T.; Kawaguchi, S.; Ogawa, M.; Bae, S.-C.; Yamashita, N.; Itohara, S.; Kudo, N.; Ito, Y.: Runx3 controls the axonal projection of proprioceptive dorsal root ganglion neurons. Nature Neurosci. 23Sept, 2002. Note: Advance Electronic Publication.
[0012789]3377.Li, Q.-L.; Ito, K.; Sakakura, C.; Fukamachi, H.; Inoue, K.; Chi, X.-Z.; Lee, K.-Y.; Nomura, S.; Lee, C.-W.; Han, S.-B.; Kim, H.-M.; Kim, W.-J.; and 15 others: Causal relationship between the loss of RUNX3 expression and gastric cancer. Cell 109: 113-124, 2002.
[0012790]3378.Wijmenga, C.; Speck, N. A.; Dracopoli, N. C.; Hofker, M. H.; Liu, P.; Collins, F. S.: Identification of a new murine runt domain-containing gene, Cbfa3, and localization of the human homolog, CBFA3, to chromosome 1p35-pter. Genomics 26: 611-614, 1995.
[0012791]3379.Cody, J. D.; Hale, D. E.; Brkanac, Z.; Kaye, C. I.; Leach, R. J. : Growth hormone insufficiency associated with haploinsufficiency at 18q23. Am. J. Med. Genet. 71: 420-425, 1997.
[0012792]3380.Habert-Ortoli, E.; Amiranoff, B.; Loquet, I.; Laburthe, M.; Mayaux, J.-F.: Molecular cloning of a functional human galanin receptor. Proc. Nat. Acad. Sci. 91: 9780-9783, 1994.
[0012793]3381.Hecht, G.; Marrero, J. A.; Danilkovich, A.; Matkowskyj, K. A.; Savkovic, S. D.; Koutsouris, A.; Benya, R. V.: Pathogenic Escherichia coli increase Cl- secretion from intestinal epithelia by upregulating galanin-1 receptor expression. J. Clin. Invest. 104: 253-262, 1999.
[0012794]3382.Scoggin, C. H.; Fisher, J. H.; Shoemaker, S. A.; Morse, H.; Leigh, T.; Riccardi, V. M.: The E7-associated cell-surface antigen: a marker for the 11p13 chromosomal deletion associated with aniridia-Wilms tumor. Am. J. Hum. Genet. 37: 883-889, 1985.
[0012795]3383.Avramopoulos, D.; Cox, T.; Blaschak, J. E.; Chakravarti, A.; Antonarakis, S. E.: Linkage mapping of the AML1 gene on human chromosome 21 using a DNA polymorphism in the 3-prime untranslated region. Genomics 14: 506-507, 1992.
[0012796]3384.Bernardin, F.; Yang, Y.; Cleaves, R.; Zahurak, M.; Cheng, L.; Civin, C. I.; Friedman, A. D.: TEL-AML1, expressed from t(12;21) in human acute lymphocytic leukemia, induces acute leukemia in mice. Cancer Res. 62: 3904-3908, 2002.
[0012797]3385.Cleary, M. L.: A new angle on a pervasive oncogene. Nature Genet. 23: 134-135, 1999.
[0012798]3386.Cuenco, G. M.; Nucifora, G.; Ren, R.: Human AML1/MDS1/EVI1 fusion protein induces an acute myelogenous leukemia (AML) in mice: a model for human AML. Proc. Nat. Acad. Sci. 97: 1760-1765, 2000.
[0012799]3387.Gamou, T.; Kitamura, E.; Hosoda, F.; Shimizu, K.; Shinohara, K.; Hayashi, Y.; Nagase, T.; Yokoyama, Y.; Ohki, M.: The partner gene of AML1 in t(16;21) myeloid malignancies is a novel member of the MTG8(ETO) family. Blood 91: 4028-4037, 1998.
[0012800]3388.Johansson, B.; Mertens, F.; Mitelman, F.: Geographic heterogeneity of neoplasiaassociated chromosome aberrations. Genes Chromosomes Cancer 3: 1-7, 1991.
[0012801]3389.Levanon, D.; Negreanu, V.; Bernstein, Y.; Bar-Am, I.; Avivi, L.; Groner, Y.: AML1, AML2, and AML3, the human members of the runt domain gene-family: cDNA structure, expression, and chromosomal localization. Genomics 23: 425-432, 1994.
[0012802]3390.Look, A. T.: Oncogenic transcription factors in the human acute leukemias. Science 278: 1059-1064, 1997.
[0012803]3391.McNeil, S.; Zeng, C.; Harrington, K. S.; Hiebert, S.; Lian, J. B.; Stein, J. L.; van Wijnen, A. J.; Stein, G. S.: The t(8;21) chromosomal translocation in acute myelogenous leukemia modifies intranuclear targeting of the AML1/CBF-alpha2 transcription factor. Proc. Nat. Acad. Sci. 96: 14882-14887, 1999.
[0012804]3392.Burt, R. W.; Berenson, M. M.; Lee, R. G.; Tolman, K. G.; Freston, J. W.; Gardner, E. J.: Upper gastrointestinal polyps in Gardner's syndrome. Gastroenterology 86: 295-301, 1984.
[0012805]3393.Butson, A. R. C.: Familial multiple polyposis coli with multiple associated tumors. Dis. Colon Rectum 26: 578-582, 1983.
[0012806]3394.Cachon-Gonzalez, M. B.; Delhanty, J. D. A.; Burn, J.; Tsioupra, K.; Davis, M. B.; Attwood, J.; Chapman, P.: Linkage analysis in adenomatous polyposis coli: the use of four closely linked DNA probes in 20 UK families. J. Med. Genet. 28: 681-685, 1991.
[0012807]3395.Calin, G.; Wijnen, J.; van der Klift, H.; Ionita, A.; Mulder, A.; Breukel, C.; Smits, R.; Dauwerse, H.; Hansson, K.; Calin, S.; Stefanescu, D.; Oproiu, A.; Fodde, R.: Marfan-like habitus and familial adenomatous polyposis in two unrelated males: a significant association? Europ. J. Hum. Genet. 7: 609-614, 1999.
[0012808]3396.Cama, A.; Esposito, D. L.; Palmirotta, R.; Curia, M. C.; Ranieri, A.; Ficari, F.; Valanzano, R.; Modesti, A.; Battista, P.; Tonelli, F.; Mariani-Costantini, R.: A novel mutation at the splice junction of exon 9 of the APC gene in familial adenomatous polyposis. Hum. Mutat. 3: 305-308, 1994.
[0012809]3397.Camiel, M. R.; Mule, J. E.; Alexander, L. L.; Benninghoff, D. L.: Association of thyroid carcinoma with Gardner's syndrome in siblings. New Eng. J. Med. 278: 1056-1058, 1968.
[0012810]3398.Cao, X.; Eu, K. W.; Seow-Choen, F.; Zao, Y.; Cheah, P. Y.: APC mutation and phenotypic spectrum of Singapore familial adenomatous polyposis patients. Europ. J. Hum. Genet. 8: 42-48, 2000.
[0012811]3399.Cao, X.; Eu, K. W.; Seow-Choen, F.; Zhao, Y.; Cheah, P. Y.: Topoisomerase-I- and Alu-mediated genomic deletions of the APC gene in familial adenomatous polyposis. Hum. Genet. 108: 436-442, 2001.
[0012812]3400.Capps, W. F., Jr.; Lewis, M. I.; Gazzaniga, D. A.: Carcinoma of the colon, ampulla of Vater and urinary bladder associated with familial multiple polyposis: a case report. Dis. Colon Rectum 11: 298-304, 1968.
[0012813]3401.Carl, W.; Herrera, L.: Dental and bone abnormalities in patients with familial polyposis coli. Sem. Surg. Oncol 3: 77-83, 1987.
[0012814]3402.Caspari, R.; Friedl, W.; Mandl, M.; Moslein, G.; Kadmon, M.; Knapp, M.; Jacobasch, K.-H.; Ecker, K.-W.; Kreissler-Haag, D.; Timmermanns, G.; Propping, P.: Familial adenomatous polyposis: mutation at codon 1309 and early onset of colon cancer. Lancet 343: 629-632, 1994.
[0012815]3403.Caspari, R.; Olschwang, S.; Friedl, W.; Mandl, M.; Boisson, C.; Boker, T.; Augustin, A.; Kadmon, M.; Moslein, G.; Thomas, G.; Propping, P.: Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444. Hum. Molec. Genet. 4: 337-340, 1995.
[0012816]3404.Chang, C. H.; Platt, E. D.; Thomas, K. E.; Watne, A. L.: Bone abnormalities in Gardner's syndrome. Am. J. Roentgen. 103: 645-652, 1968.
[0012817]3405.Chapman, P. D.; Church, W.; Burn, J.; Gunn, A.: Congenital hypertrophy of retinal pigment epithelium: a sign of familial adenomatous polyposis. Brit. Med. J. 298: 353-354, 1989.
[0012818]3406.Chau, I.; Cunningham, D.: Cyclooxygenase inhibition in cancer - a blind alley or a new therapeutic reality? (Editorial) New Eng. J. Med. 346: 1085-1087, 2002.
[0012819]3407.Chen, S.; Kazim, D.; Kraveka, J.; Pollack, R. E.: Skin fibroblasts from individuals hemizygous for the familial adenopolyposis susceptibility gene show delayed crisis in vitro. Proc. Nat. Acad. Sci. 86: 2008-2012, 1989.
[0012820]3408.Clark, S. K.; Neale, K. F.; Landgrebe, J. C.; Phillips, R. K. S.: Desmoid tumours complicating familial adenomatous polyposis. Brit. J. Surg. 86: 1185-1189, 1999.
[0012821]3409.Cottrell, S.; Bicknell, D.; Kaklamanis, L.; Bodmer, W. F.: Molecular analysis of APC mutations in familial adenomatous polyposis and sporadic colon carcinomas. Lancet 340: 626-630, 1992.
[0012822]3410.Couture, J.; Mitri, A.; Lagace, R.; Smits, R.; Berk, T.; Bouchard, H.-L.; Fodde, R.; Alman, B.; Bapat, B.: A germline mutation at the extreme 3-prime end of the APC gene results in a severe desmoid phenotype and is associated with overexpression of beta-catenin in the desmoid tumor. Clin. Genet. 57: 205-212, 2000.
[0012823]3411.Crabtree, M. D.; Tomlinson, I. P. M.; Talbot, I. C.; Phillips, R. K. S.: Variability in the severity of colonic disease in familial adenomatous polyposis results from differences in tumour initiation rather than progression and depends relatively little on patient age. Gut 49: 540-543, 2001.
[0012824]3412.Cross, I.; Delhanty, J.; Chapman, P.; Bowles, L. V.; Griffin, D.; Wolstenholme, J.; Bradburn, M.; Brown, J.; Wood, C.; Gunn, A.; Burn, J.: An intrachromosomal insertion causing 5q22 deletion and familial adenomatous polyposis coli in two generations. J. Med. Genet. 29: 175-179, 1992.
[0012825]3413.Curia, M. C.; Esposito, D. L.; Aceto, G.; Palmirotta, R.; Crognale, S.; Valanzano, R.; Ficari, F.; Tonelli, F.; Battista, P.; Mariani-Costantini, R.; Cama, A.: Transcript dosage effect in familial adenomatous polyposis: model offered by two kindreds with exon 9 APC gene mutations. Hum. Mutat. 11: 197-201, 1998.
[0012826]3414.Danes, B. S.: The Gardner syndrome: increased tetraploidy in cultured skin fibroblast. J. Med. Genet. 13: 52-56, 1976.
[0012827]3415.Danes, B. S.: The Gardner syndrome. Cancer 36: 2327-2333, 1975.
[0012828]3416.Danes, B. S.; Gardner, E. J.: The Gardner syndrome: a cell culture study of kindred 109. J. Med. Genet. 15: 346-551, 1978.
[0012829]3417.Davies, D. R.; Armstrong, J. G.; Thakker, N.; Horner, K.; Guy, S. P.; Clancy, T.; Sloan, P.; Blair, V.; Dodd, C.; Warnes, T. W.; Harris, R.; Evans, D. G. R.: Severe Gardner syndrome in families with mutations restricted to a specific region of the APC gene. Am. J. Hum. Genet. 57: 1151-1158, 1995.
[0012830]3418.Denzler, T. B.; Harned, R. K.; Pergam, C. J.: Gastric polyps in familial polyposis coli. Radiology 130: 63-66, 1979.
[0012831]3419.Deuter, R.; Muller, O.: Detection of APC mutations in stool DNA of patients with colorectal cancer by HD-PCR. Hum. Mutat. 11: 84-89, 1998.
[0012832]3420.De Vries, E. M. G.; Ricke, D. O.; De Vries, T. N.; Hartmann, A.; Blaszyk, H.; Liao, D.; Soussi, T.; Kovach, J. S.; Sommer, S. S.: Database of mutations in the p53 and APC tumor suppressor genes designed to facilitate molecular epidemiological analyses. Hum. Mutat. 7: 202-213, 1996.
[0012833]3421.Dhaliwal, M. K.; Hughes, J. I.; Jackson, G. L.; Pathak, S.: Multiple polyposis coli associated with Gardner's syndrome and chromosomal mosaicism: a family analysis. Am. J. Gastroenterol. 85: 880-883, 1990.
[0012834]3422.Diaz-Llopis, M.; Menezo, J. L.: Congenital hypertrophy of the retinal pigment epithelium in familial adenomatous polyposis. Arch. Ophthal. 106: 412-413, 1988.
[0012835]3423.Bielinska, B.; Blaydes, S. M.; Buiting, K.; Yang, T.; Krajewska-Walasek, M.; Horsthemke, B.; Brannan, C. I.: De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch. Nature Genet. 25: 74-78, 2000. Note: Erratum: Nature Genet. 25: 241 only, 2000.
[0012836]3424.Lorenzo, F.; del Giudice, E. M.; Alloisio, N.; Morle, L.; Forissier, A.; Perrotta, S.; Sciarratta, G.; Iolascon, A.; Delaunay, J.: Severe poikilocytosis associated with a de novo alpha-28 arg-tocys mutation in spectrin. Brit. J. Haemat. 83: 152-157, 1993.
[0012837]3425.Marchesi, S. L.: Personal Communication. New Haven, Conn. 3/1990.
[0012838]3426.Marchesi, S. L.; Agre, P. A.; Speicher, D. W.; Tse, W. T.; Forget, B. G.: Mutant spectrin alpha-II domain in recessively inherited spherocytosis. (Abstract) Blood 74: 182A, 1989.
[0012839]3427.Marchesi, S. L.; Knowles, W. J.; Morrow, J. S.; Bologna, M.; Marchesi, V. T.: Abnormal spectrin in hereditary elliptocytosis. Blood 67: 141-151, 1986.
[0012840]3428.Marchesi, S. L.; Letsinger, J. T.; Speicher, D. W.; Marchesi, V. T.; Agre, P.; Hyun, B.; Gulati, G.: Mutant forms of spectrin alpha-subunits in hereditary elliptocytosis. J. Clin. Invest. 80: 191-198, 1987.
[0012841]3429.Middleton-Price, H.; Gendler, S.; Malcolm, S.: Close linkage of PUM and SPTA within chromosome band 1q21. Ann. Hum. Genet. 52: 273-278, 1988.
[0012842]3430.Moon, R. T.; Lazarides, E.: Beta-spectrin limits alpha-spectrin assembly on membranes following synthesis in a chicken erythroid cell lysate. Nature 305: 62-65, 1983.
[0012843]3431.Morle, L.; Alloisio, N.; Ducluzeau, M. T.; Pothier, B.; Bilbech, R.; Kastally, R.; Delaunay, J.: Spectrin Tunis (alpha-I/78): a new alpha-I variant that causes asymptomatic hereditary elliptocytosis in the heterozygous state. Blood 71: 508-511, 1988.
[0012844]3432.Morle, L.; Morle, F.; Roux, A. F.; Godet, J.; Forget, B. G.; Denoroy, L.; Garbarz, M.; Dhermy, D.; Kastally, R.; Delaunay, J.: Spectrin Tunis (Sp-alpha-I/78), an elliptocytogenic variant, is due to the CGG-to-TGG codon change (arg-to-trp) at position 35 of the alpha-I domain. Blood 74: 828-832, 1989.
[0012845]3433.Morle, L.; Roux, A.-F.; Alloisio, N.; Pothier, B.; Starck, J.; Denoroy, J.; Morle, F.; Rudigoz, R.-C.; Forget, B. G.; Delaunay, J.; Godet, J.: Two elliptocytogenic alpha-I/74 variants of the spectrin alpha-I domain: spectrin Culoz and spectrin Lyon, mutated at position 40 (GGT-to-GTT; gly-toval) and at position 43 (CTT-to-TTT; leu-to-phe), respectively. (Abstract) Blood 74: 60A, 1989.
[0012846]3434.Morle, L.; Roux, A.-F.; Alloisio, N.; Pothier, B.; Starck, J.; Denoroy, L.; Morle, F.; Rudigoz, R.-C.; Forget, B. G.; Delaunay, J.; Godet, J.: Two elliptocytogenic alpha(I/74) variants of the spectrin alpha-I domain: spectrin Culoz (GGT-to-GTT; alpha-I 40 gly-to-val) and spectrin Lyon (CTT-to-TTT; alpha-I 43 leu-to-phe). J. Clin. Invest. 86: 548-554, 1990.
[0012847]3435.Motulsky, A. G.; Singer, K.; Crosby, W. H.; Smith, V.: The life span of the elliptocyte: hereditary elliptocytosis and its relationship to other familial hemolytic diseases. Blood 9: 57-72, 1954.
[0012848]3436.Pakstis, A. J.; Miki, T.; Kidd, J. R.; Kidd, K. K.: D1S75 is polymorphic in Caucasians as well as Japanese and maps between AT3 and SPTA1 on chromosome 1q. (Abstract) Cytogenet. Cell Genet. 51: 1057, 1989.
[0012849]3437.Palek, J.; Coetzer, T.: Clinical expression of alpha-spectrin mutants in hereditary elliptocytosis. Blood Cells 13: 237-250, 1987.
[0012850]3438.Parquet, N.; Devaux, I.; Boulanger, L.; Galand, C.; Boivin, P.; Lecomte, M.-C.; Dhermy, D.; Garbarz, M.: Identification of three novel spectrin alphaI/74 mutations in hereditary elliptocytosis: further support for a triple-stranded folding unit model of the spectrin heterodimer contact site. Blood 84: 303-308, 1994.
[0012851]3439.Perrotta, P.; del Giudice, E. M.; Alloisio, N.; Sciarratta, G.; Pinto, L.; Delaunay, J.; Cutillo, S.; Iolascon, A.: Mild elliptocytosis associated with the alpha-34 arg-to-trp mutation in spectrin Genova (alpha-I/74). Blood 83: 3346-3349, 1994.
[0012852]3440.Raeymaekers, P.; Van Broeckhoven, C.; Backhovens, H.; Wehnert, A.; Muylle, L.; De Jonghe, P.; Gheuens, J.; Vandenberghe, A.: The Duffy blood group is linked to the alpha-spectrin locus in a large pedigree with autosomal dominant inheritance of Charcot-Marie-Tooth disease type 1. Hum. Genet. 78: 76-78, 1988.
[0012853]3441.Randon, J.; Boulanger, L.; Marechal, J.; Garbarz, M.; Vallier, A.; Ribeiro, L.; Tamagnini, G.; Dhermy, D.; Delaunay, J.: A variant of spectrin low-expression allele alpha-LELY carrying a hereditary elliptocytosis mutation in codon 28. Brit. J. Haemat. 88: 534-540, 1994.
[0012854]3442.Ravindranath, Y.; Johnson, R. M.: Altered spectrin association and membrane fragility without abnormal spectrin heat sensitivity in a case of congenital hemolytic anemia. Am. J. Hemat. 20: 53-65, 1985.
[0012855]3443.Roux, A.-F.; Morle, F.; Guetarni, D.; Colonna, P.; Sahr, K.; Forget, B. G.; Delaunay, J.; Godet, J.: Molecular basis of Sp alpha(I/65) hereditary elliptocytosis in North Africa: insertion of a TTG triplet between codons 147 and 149 in the alpha-spectrin gene from five unrelated families. Blood 73: 2196-2201, 1989.
[0012856]3444.Sahr, K. E.; Laurila, P.; Kotula, L.; Scarpa, A. L.; Coupal, E.; Leto, T. L.; Linnenbach, A. J.; Winkelmann, J. C.; Speicher, D. W.; Marchesi, V. T.; Curtis, P. J.; Forget, B. G.: The complete cDNA and polypeptide sequences of human erythroid alpha-spectrin. J. Biol. Chem. 265: 4434-4443, 1990.
[0012857]3445.Sahr, K. E.; Tobe, T.; Scarpa, A.; Laughinghouse, K.; Marchesi, S. L.; Agre, P.; Linnenbach, A. J.; Marchesi, V. T.; Forget, B. G. : Sequence and exon-intron organization of the DNA encoding the alpha-I domain of human spectrin: application to the study of mutations causing hereditary elliptocytosis. J. Clin. Invest. 84: 1243-1252, 1989.
[0012858]3446.Speicher, D. W.; Weglarz, L.; DeSilva, T. M.: Properties of human red cell spectrin heterodimer (side-to-side) assembly and identification of an essential nucleation site. J. Biol. Chem. 267: 14775-14782, 1992.
[0012859]3447.Eagle, L. R.; Yin, X.; Brothman, A. R.; Williams, B. J.; Atkin, N. B.; Prochownik, E. V.: Mutation of the MXI1 gene in prostate cancer. Nature Genet. 9: 249-255, 1995.
[0012860]3448.Edwards, A.; Hammond, H. A.; Jin, L.; Caskey, C. T.; Chakraborty, R.: Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groups. Genomics 12: 241-253, 1992.
[0012861]3449.Ichikawa, T.; Ichikawa, Y.; Dong, J.; Hawkins, A. L.; Griffin, C. A.; Isaacs, W. B.; Oshimura, M.; Barrett, J. C.; Isaacs, J. T. : Localization of metastasis suppressor gene(s) for prostatic cancer to the short arm of human chromosome 11. Cancer Res. 52: 3486-3490, 1992.
[0012862]3450.Ichikawa, T.; Ichikawa, Y.; Isaacs, J. T.: Genetic factors and suppression of metastatic ability of prostatic cancer. Cancer Res. 51: 3788-3792, 1991.
[0012863]3451.Irvine, R. A.; Yu, M. C.; Ross, R. K.; Coetzee, G. A.: The CAG and GGC microsatellites of the androgen receptor gene are in linkage disequilibrium in men with prostate cancer. Cancer. Res. 55: 1937-1940, 1995.
[0012864]3452.Peters, M. A.; Ostrander, E. A.: Prostate cancer: more than two to tango. Nature Genet. 27: 134-135, 2001.
[0012865]3453.Bansal, A.; Murray, D. K.; Wu, J. T.; Stephenson, R. A.; Middleton, R. G.; Meikle, A. W.: Heritability of prostate-specific antigen and relationship with zonal prostate volumes in aging twins. J. Clin. Endocr. Metab. 85: 1272-1276, 2000.
[0012866]3454.Cleutjens, K. B. J. M.; van der Korput, H. A. G. M.; van Eekelen, C. C. E. M.; van Rooij, H. C. J.; Faber, P. W.; Trapman, J.: An androgen response element in a far upstream enhancer region is essential for high, androgen-regulated activity of the prostate-specific antigen promoter. Molec. Endocr. 11: 148-161, 1997.
[0012867]3455.Nelson, R. J.; Demas, G. E.; Huang, P. L.; Fishman, M. C.; Dawson, V. L.; Dawson, T. M.; Snyder, S. H.: Behavioural abnormalities in male mice lacking neuronal nitric oxide synthase. Nature 378: 383-386, 1995.
[0012868]3456.Henry, J. G.; Mitnick, M.; Dann, P. R.; Stewart, A. F.: Parathyroid hormone-related protein-(1-36) is biologically active when administered subcutaneously to humans. J. Clin. Endocr. Metab. 82: 900-906, 1997.
[0012869]3457.Magnaghi, P.; Agazzi, A.; Semino, O.; Ferrari, M.; Barbui, T.; D'Angelo, A.; Taramelli, R.: A recombination event in the closely linked plasminogen and apolipoprotein(a) gene loci. Clin. Genet. 47: 285-289, 1995.
[0012870]3458.Schwarz, H. P.; Fischer, M.; Hopmeier, P.; Batard, M. A.; Griffin, J. H.: Plasma protein S deficiency in familial thrombotic disease. Blood 64: 1297-1300, 1984.
[0012871]3459.Kan, S.; Elanko, N.; Johnson, D.; Cornejo-Roldan, L.; Cook, J.; Reich, E. W.; Tomkins, S.; Verloes, A.; Twigg, S. R. F.; Rannan-Eliya, S.; McDonald-McGinn, D. M.; Zackai, E. H.; Wall, S. A.; Muenke, M.; Wilkie, A. O. M.: Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. Am. J. Hum. Genet. 70: 472-486, 2002.
[0012872]3460.Zhuchenko, O.; Bailey, J.; Bonnen, P.; Ashizawa, T.; Stockton, D. W.; Amos, C.; Dobyns, W. B.; Subramony, S. H.; Zoghbi, H. Y.; Lee, C. C.: Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha(1A)-voltage-dependent calcium channel. Nature Genet. 15: 62-69, 1997.
[0012873]3461.Imbert, G.; Saudou, F.; Yvert, G.; Devys, D.; Trottier, Y.; Garnier, J.-M.; Weber, C.; Mandel, J.-L.; Cancel, G.; Abbas, N.; Durr, A.; Didierjean, O.; Stevanin, G.; Agid, Y.; Brice, A.: Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nature Genet. 14: 285-291, 1996.
[0012874]3462.Holick, M. F.; Ray, S.; Chen, T. C.; Tian, X.; Persons, K. S.: A parathyroid hormone antagonist stimulates epidermal proliferation and hair growth in mice. Proc. Nat. Acad. Sci. 91: 8014-8016, 1994.
[0012875]3463.Lanske, B.; Amling, M.; Neff, L.; Guiducci, J.; Baron, R.; Kronenberg, H. M.: Ablation of the PTHrP gene or the PTH/PTHrP receptor gene leads to distinct abnormalities in bone development. J. Clin. Invest. 104: 399-407, 1999.
[0012876]3464.Mangin, M.; Ikeda, K.; Dreyer, B. E.; Broadus, A. E.: Isolation and characterization of the human parathyroid hormone-like peptide gene. Proc. Nat. Acad. Sci. 86: 2408-2412, 1989.
[0012877]3465.Mangin, M.; Webb, A. C.; Dreyer, B. E.; Posillico, J. T.; Ikeda, K.; Weir, E. C.; Stewart, A. F.; Bander, N. H.; Milstone, L.; Barton, D. E.; Francke, U.; Broadus, A. E.: Identification of a cDNA encoding a parathyroid hormone-like peptide from a human tumor associated with humoral hypercalcemia of malignancy. Proc. Nat. Acad. Sci. 85: 597-601, 1988.
[0012878]3466.Moseley, J. M.; Kubota, M.; Diefenbach-Jagger, H.; Wettenhall, R. E. H.; Kemp, B. E.; Suva, L. J.; Rodda, C. P.; Ebeling, P. R.; Hudson, P. J.; Zajac, J. D.; Martin, T. J.: Parathyroid hormonerelated protein purified from a human lung cancer cell line. Proc. Nat. Acad. Sci. 84: 5048-5052, 1987.
[0012879]3467.Philbrick, W. M.; Dreyer, B. E.; Nakchbandi, I. A.; Karaplis, A. C.: Parathyroid hormone-related protein is required for tooth eruption. Proc. Nat. Acad. Sci. 95: 11846-11851, 1998.
[0012880]3468.Strewler, G. J.: The physiology of parathyroid hormone-related protein. New Eng. J. Med. 342: 177-185, 2000.
[0012881]3469.Suva, L. J.; Winslow, G. A.; Wettenhall, R. E. H.; Hammonds, R. G.; Moseley, J. M.; Diefenbach-Jagger, H.; Rodda, C. P.; Kemp, B. E.; Rodriguez, H.; Chen, E. Y.; Hudson, P. J.; Martin, T. J.; Wood, W. I.: A parathyroid hormone-related protein implicated in malignant hypercalcemia: cloning and expression. Science 237: 893-896, 1987.
[0012882]3470.Vortkamp, A.; Lee, K.; Lanske, B.; Segre, G. V.; Kronenberg, H. M.; Tabin, C. J.: Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein. Science 273: 613-622, 1996.
[0012883]3471.Wysolmerski, J. J.; Cormier, S.; Philbrick, W. M.; Dann, P.; Zhang, J.-P.; Roume, J.; Delezoide, A.-L.; Silve, C.: Absence of functional type 1 parathyroid hormone (PTH)/PTH-related protein receptors in humans is associated with abnormal breast development and tooth impaction. J. Clin. Endocr. Metab. 86: 1788-1794, 2001.
[0012884]3472.Wysolmerski, J. J.; Philbrick, W. M.; Dunbar, M. E.; Lanske, B.; Kronenberg, H.; Broadus, A. E.: Rescue of the parathyroid hormone-related protein knockout mouse demonstrates that parathyroid hormone-related protein is essential for mammary gland development. Development 125: 1285-1294, 1998.
[0012885]3473.Yasuda, T.; Banville, D.; Hendy, G. N.; Goltzman, D.: Characterization of the human parathyroid hormone-like peptide gene: functional and evolutionary aspects. J. Biol. Chem. 264: 7720-7725, 1989.
[0012886]3474.Mavrogiannis, L. A.; Antonopoulou, I.; Baxova, A.; Kutilek, S.; Kim, C. A.; Sugayama, S. M.; Salamanca, A.; Wall, S. A.; Morriss-Kay, G. M.; Wilkie, A. O. M.: Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects. Nature Genet. 27: 17-18, 2001.
[0012887]3475.Qu, S.; Niswender, K. D.; Ji, Q.; van der Meer, R.; Keeney, D.; Magnuson, M. A.; Wisdom, R.: Polydactyly and ectopic ZPA formation in Alx-4 mutant mice. Development 124: 3999-4008, 1997.
[0012888]3476.Wu, Y.-Q.; Badano, J. L.; McCaskill, C.; Vogel, H.; Potocki, L.; Shaffer, L. G.: Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous genedeletion syndrome. Am. J. Hum. Genet. 67: 1327-1332, 2000.
[0012889]3477.Wuyts, W.; Cleiren, E.; Homfray, T.; Rasore-Quartino, A.; Vanhoenacker, F.; Van Hul, W.: The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500). J. Med. Genet. 37: 916-920, 2000.
[0012890]3478.Fischer, M. B.; Roeckl, C.; Parizek, P.; Schwarz, H. P.; Aguzzi, A.: Binding of diseaseassociated prion protein to plasminogen. Nature 408: 479-483, 2000.
[0012891]3479.Cerone, R.; Holme, E.; Schiaffino, M. C.; Caruso, U.; Maritano, L.; Romano, C.: Tyrosinemia type III: diagnosis and ten-year follow-up. Acta Paediat. 86: 1013-1015, 1997.
[0012892]3480.Lemyre, E.; Russo, P.; Melancon, S. B.; Gagne, R.; Potier, M.; Lambert, M.: Clinical spectrum of infantile free sialic acid storage disease. Am. J. Med. Genet. 82: 385-391, 1999.
[0012893]3481.Mancini, G. M. S.; Beerens, C. E. M. T.; Aula, P. P.; Verheijen, F. W.: Sialic acid storage diseases: a multiple lysosomal transport defect for acidic monosaccharides. J. Clin. Invest. 87: 1329-1335, 1991.
[0012894]3482.Schleutker, J.; Laine, A.-P.; Haataja, L.; Renlund, M.; Weissenbach, J.; Aula, P.; Peltonen, L.: Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-q15. Genomics 27: 286-292, 1995.
[0012895]3483.Schleutker, J.; Leppanen, P.; Mansson, J.-E.; Erikson, A.; Weissenbach, J.; Peltonen, L.; Aula, P.: Lysosomal free sialic acid storage disorders with different phenotypic presentations--infantile-form sialic acid storage disease and Salla disease--represent allelic disorders on 6q14-15. Am. J. Hum. Genet. 57: 893-901, 1995.
[0012896]3484.Tondeur, M.; Libert, J.; Vamos, E.; Van Hoof, F.; Thomas, G. H.; Strecker, G.: Infantile form of sialic acid storage disorder: clinical, ultrastructural, and biochemical studies in two siblings. Europ. J. Pediat. 139: 142-147, 1982.
[0012897]3485.Verheijen, F. W.; Verbeek, E.; Aula, N.; Beerens, C. E. M. T.; Havelaar, A. C.; Joosse, M.; Peltonen, L.; Aula, P.; Galjaard, H.; van der Spek, P. J.; Mancini, G. M. S.: A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases. Nature Genet. 23: 462-465, 1999.
[0012898]3486.Krasnewich, D. M.; Tietze, F.; Krause, W.; Pretzlaff, R.; Wenger, D. A.; Diwadkar, V.; Gahl, W. A.: Clinical and biochemical studies in an American child with sialuria. Biochem. Med. Metab. Biol. 49: 90-96, 1993.
[0012899]3487.Leroy, J. G.; Seppala, R.; Huizing, M.; Dacremont, G.; De Simpel, H.; Van Coster, R. N.; Orvisky, E.; Krasnewich, D. M.; Gahl, W. A. : Dominant inheritance of sialuria, an inborn error of feedback inhibition. Am. J. Hum. Genet. 68: 1419-1427, 2001.
[0012900]3488.Seppala, R.; Lehto, V.-P.; Gahl, W. A.: Mutations in the human UDP-Nacetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme. Am. J. Hum. Genet. 64: 1563-1569, 1999.
[0012901]3489.Cho, Y.-Y.; Kang, M.-J.; Sone, H.; Suzuki, T.; Abe, M.; Igarashi, M.; Tokunaga, T.; Ogawa, S.; Takei, Y. A.; Miyazawa, T.; Sasano, H.; Fujino, T.; Yamamoto, T. T.: Abnormal uterus with polycysts, accumulation of uterine prostaglandins, and reduced fertility in mice heterozygous for acyl-CoA synthetase 4 deficiency. Biochem. Biophys. Res. Commun. 284: 993-997, 2001.
[0012902]3490.Kay, M. A.; High, K.: Gene therapy for the hemophilias. (Commentary) Proc. Nat. Acad. Sci. 96: 9973-9975, 1999. 100. Kazazian, H. H., Jr.; Wong, C.; Youssoufian, H.; Scott, A. F.; Phillips, D. G.; Antonarakis, S. E.: Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man. Nature 332: 164-166, 1988. 101. Kemball-Cook, G.; Tuddenham, E. G. D.: The factor VIII mutation database on the World Wide Web: the haemophilia A mutation, search, test and resource site. HAMSTeRS update (version 3.0). Nucleic Acids Res. 25: 128-132, 1997. 102. Kenwrick, S.; Gitschier, J.: A contiguous, 3-Mb physical map of Xq28 extending from the colorblindness locus to DXS15. Am. J. Hum. Genet. 45: 873-882, 1989. 103. Kenwrick, S.; Levinson, B.; Taylor, S.; Shapiro, A.; Gitschier, J.: Isolation and sequence of two genes associated with a CpG island 5-prime of the factor VIII gene. Hum. Molec. Genet. 1: 179-186, 1992. 104. Kitchens, C. S.: Occult hemophilia. Johns Hopkins Med. J. 146: 255-259, 1980. 105. Klein, H. G.; Aledort, L. M.; Bouma, B. N.; Hoyer, L. W.; Zimmerman, T. S.; De Mets, D. L.: A co-operative study for the detection of the carrier state of classic hemophilia. New Eng. J. Med. 296: 959-962, 1977. 106. Kogan, S.; Gitschier, J.: Mutations and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis. Proc. Nat. Acad. Sci. 87: 2092-2096, 1990. 107. Kogan, S. C.; Doherty, M.; Gitschier, J.: An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences: application to hemophilia A. New Eng. J. Med. 317: 985-990, 1987. 108. Krepelova, A.; Varlova, Z.; Zavadil, J.; Brdicka, R.: Factor VIII gene deletions in haemophilia A patients in Czechoslovakia. Brit. J. Haemat. 86: 271-276, 1992. 109. Lacroix-Desmazes, S.; Bayry, J.; Misra, N.; Horn, M. P.; Villard, S.; Pashov, A.; Stieltjes, N.; d'Oiron, R.; Saint-Remy, J.-M.; Hoebeke, J.; Kazatchkine, M. D.; Kaveri, S. V.: The prevalence of proteolytic antibodies against factor VIII in hemophilia A. New Eng. J. Med. 346: 662-667, 2002. 110. Lakich, D.; Kazazian, H. H., Jr.; Antonarakis, S. E.; Gitschier, J.: Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nature Genet. 5: 236-241, 1993. 111. Lavergne, J. M.; Bahnak, B. R.; Vidaud, M.; Laurian, Y.; Meyer, D.: A directed search for mutations in hemophilia A using restriction enzyme analysis and denaturing gradient gel electrophoresis: a study of seven exons in the factor VIII gene of 170 cases. Nouv. Rev. Fr. Hematol. 34: 85-91, 1992. 112. Lawn, R. M.: The molecular genetics of hemophilia: blood clotting factors VIII and IX. Cell 42: 405-406, 1985. 113. Leuer, M.; Oldenburg, J.; Lavergne, J.-M.; Ludwig, M.; Fregin, A.; Eigel, A.; Ljung, R.; Goodeve, A.; Peake, I.; Olek, K.: Somatic mosaicism in hemophilia A: a fairly common event. Am. J. Hum. Genet. 69: 75-87, 2001. 114. Levin, J.: Personal Communication. Baltimore, Md. 12/1979. 115. Levinson, B.; Janco, R.; Phillips, J., III; Gitschier, J.: A novel missense mutation in the factor VIII gene identified by analysis of amplified hemophilia DNA sequences. Nucleic Acids Res. 15: 9797-9805, 1987. 116. Levinson, B.; Kenwrick, S.; Lakich, D.; Hammonds, G.; Gitschier, J.: A transcribed gene in an intron of the human factor VIII gene. Genomics 7: 1-11, 1990. 117. Levinson, B.; Lehesjoki, A.-E.; de la Chapelle, A.; Gitschier, J.: Molecular analysis of hemophilia A mutations in the Finnish population. Am. J. Hum. Genet. 46: 53-62, 1990. 118. Lewis, J. H.; Bontempo, F. A.; Spero, J. A.; Ragni, M. V.; Starzl, T. E.: Liver transplantation in a hemophiliac. New Eng. J. Med. 312: 1189-1190, 1985. 119. Lillicrap, D. P.; Taylor, S. A. M.; Grover, H.; Teitel, J.; Giles, A. R.; Holden, J. J. A.; White, B. N.: Genetic analysis in hemophilia A: identification of a large F.VIII gene deletion in a patient with high titre antibodies to human and porcine F.VIII. (Abstract) Blood 68: 337a only, 1986. 120. Lin, S.-W.; Lin, S.-R.; Shen, M.-C.: Characterization of genetic defects of hemophilia A in patients of Chinese origin. Genomics 18: 496-504, 1993. 121. Mannucci, P. M.; Tuddenham, E. G. D.: The hemophilias--from royal genes to gene therapy. New Eng. J. Med. 344: 1773-1779, 2001. 122. Marchesi, S. L.; Shulman, N. R.; Gralnick, H. R.: Studies on the purification and characterization of human factor VIII. J. Clin. Invest. 51: 2151-2161, 1972. 123. McGinniss, M. J.; Kazazian, H. H., Jr.; Hoyer, L. W.; Bi, L.; Inaba, H.; Antonarakis, S. E.: Spectrum of mutations in CRM-positive and CRM-reduced hemophilia A. Genomics 15: 392-398, 1993. 124. McKusick, V. A.: The royal hemophilia. Sci. Am. 213(2): 88-95, 1965. 125. McKusick, V. A.: On the X Chromosome of Man. Washington, D. C.: Am. Inst. Biol. Sci. (pub.) 1964. 126. McKusick, V. A.: Hemophilia in early New England: a follow-up of four kindreds in which hemophilia occurred in pre-Revolutionary period. J. Hist. Med. 17: 342-365, 1962. 127. McKusick, V. A.: The earliest record of hemophilia in America? Blood 19: 243-244, 1962. 128. Mibashan, R. S.; Peake, I. R.; Rodeck, C. H.; Thumpston, J. K.; Furlong, R. A.; Gorer, R.; Bains, L.; Bloom, A. L.: Dual diagnosis of prenatal haemophilia A by measurement of fetal factor VIIIC and VIIIC antigen (VIIICAg). Lancet II: 994-997, 1980. 129. Migeon, B. R.; Axelman, J.; Jan de Beur, S.; Valle, D.; Mitchell, G. A.; Rosenbaum, K. N.: Selection against lethal alleles in females heterozygous for incontinentia pigmenti. Am. J. Hum. Genet. 44: 100-106, 1989. 130. Migeon, B. R.; McGinniss, M. J.; Antonarakis, S. E.; Axelman, J.; Stasiowski, B. A.; Youssoufian, H.; Kearns, W. G.; Chung, A.; Pearson, P. L.; Kazazian, H. H., Jr.; Muneer, R. S.: Severe hemophilia A in a female by cryptic translocation: order and orientation of factor VIII within Xq28. Genomics 16: 20-25, 1993. 131. Mikami, S.: Gene analysis in haemophilia A--restriction fragment length polymorphism and molecular defects in the factor VIII gene. Acta Haemat. Jpn. 51: 1680-1688, 1988. 132. Millar, D. S.; Steinbrecher, R. A.; Wieland, K.; Grundy, C. B.; Martinowitz, U.; Krawczak, M.; Zoll, B.; Whitmore, D.; Stephenson, J.; Mibashan, R. S.; Kakkar, V. V.; Cooper, D. N.: The molecular genetic analysis of haemophilia A; characterization of six partial deletions in the factor VIII gene. Hum. Genet. 86: 219-227, 1990. 133. Millar, D. S.; Steinbrecher, R. A.; Wieland, K.; Grundy, C. B.; Martinowitz, U.; Krawczak, M.; Zoll, B.; Whitmore, D.; Stephenson, J.; Mibashan, R. S.; Kakkar, V. V.; Cooper, D. N.: The molecular genetic analysis of haemophilia A: characterization of six partial deletions in the factor VIII gene. Hum. Genet. 86: 219-227, 1990. 134. Millar, D. S.; Zoll, B.; Martinowitz, U.; Kakkar, V. V.; Cooper, D. N.: The molecular genetics of haemophilia A: screening for point mutations in the factor VIII gene using the restriction enzyme TaqI. Hum. Genet. 87: 607-612, 1991. 135. Mori, P. G.; Pasino, M.; Vadala, C. R.; Bisogni, M. C.; Tonini, G. P.; Scarabicchi, S.: Haemophilia 'A' in a 46,X,i(Xq) female. Brit. J. Haemat. 43: 143-147, 1979. 136. Muneer, R. S.; Coffman, M. A.; Thompson, L. M.; Sexauer, C. L.; Rennert, O. M.: Classic hemophilia in a female with X/17 complex translocation and partial deletion of the long arm X chromosome (Xq11-13). Am. J. Hum. Genet. 39: A126, 1986. 137. Murru, S.; Casula, L.; Pecorara, M.; Mori, P.; Cao, A.; Pirastu, M.: Illegitimate recombination produced a duplication within the FVIII gene in a patient with mild hemophilia A. Genomics 7: 115-118, 1990. 138. Myers, R. M.; Fischer, S. G.; Lerman, L. S.; Maniatis, T.: Nearly all single base substitutions in DNA fragments joined to a GC-clamp can be detected by denaturing gradient gel electrophoresis. Nucleic Acids Res. 13: 3131-3145, 1985. 139. Myers, R. M.; Fischer, S. G.; Maniatis, T.; Lerman, L. S.: Modification of the melting properties of duplex DNA by attachment of a GC-rich DNA sequence as determined by denaturing gradient gel electrophoresis. Nucleic Acids Res. 13: 3111-3129, 1985. 140. Nafa, K.; Bundis, M.; Deburgrave, N.; Bardin, J.-M.; Sultan, Y.; Kaplan, J.-C.; Delpech, M.: A novel mutation (Arg-to-Leu in exon 18) in factor VIII gene responsible for moderate hemophilia A. Hum. Mutat. 1: 77-78, 1992. 141. Nafa, K.; Meriane, F.; Reghis, A.; Benabadji, M.; Demenais, F.; Guilloud-Bataille, M.; Sultan, Y.; Kaplan, J. C.; Delpech, M.: Investigation of factor VIIIC gene restriction fragment length polymorphisms and search for deletions in hemophiliac subjects in Algeria. Hum. Genet. 84: 401-405, 1990. 142. Naylor, J.; Brinke, A.; Hassock, S.; Green, P. M.; Giannelli, F.: Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions. Hum. Molec. Genet. 2: 1773-1778, 1993. 143. Naylor, J. A.; Green, P. M.; Montandon, A. J.; Rizza, C. R.; Giannelli, F.: Detection of three novel mutations in two haemophilia A patients by rapid screening of whole essential region of factor VIII gene. Lancet 337: 635-639, 1991. 144. Naylor, J. A.; Green, P. M.; Rizza, C. R.; Giannelli, F.: Factor VIII gene explains all cases of haemophilia A. Lancet 340: 1066-1067, 1992. 145. Naylor, J. A.; Green, P. M.; Rizza, C. R.; Giannelli, F.: Analysis of factor VIII mRNA reveals defects in everyone of 28 haemophilia A patients. Hum. Molec. Genet. 2: 11-17, 1993. 146. Nilsson, I. M.; Berntorp, E.; Zettervall, O.: Induction of immune tolerance in patients with hemophilia and antibodies to factor VIII by combined treatment with intravenous IgG, cyclophosphamide, and factor VIII. New Eng. J. Med. 318: 947-950, 1988. 147. Nilsson, I. M.; Blomback, M.; Ramgren, O.: Investigations on hemophilia A and B carriers. Bibl. Haemat. 26: 26-29, 1966. 148. Nilsson, I. M.; Blomback, M.; Ramgren, O.; Von Francken, I.: Haemophilia in Sweden. II. Carriers of haemophilia A and B. Acta Med. Scand. 171: 223-235, 1962. 149. Nilsson, I. M.; Blomback, M.; Von Francken, I.: On an inherited autosomal hemorrhagic diathesis with antihemophilic globulin (AHG) deficiency and prolonged bleeding time. Acta Med. Scand. 159: 35-57, 1957. 150. Nilsson, I. M.; Lamme, S.: On acquired hemophilia A: a survey of 11 cases. Acta Med. Scand. 208: 5-12, 1980. 151. Nisen, P. D.; Waber, P. G.: Nonrandom X chromosome DNA methylation patterns in hemophiliac females. J. Clin. Invest. 83: 1400-1403, 1989. 152. Norman, J. C.; Covelli, V. H.; Sise, H. S.: Transplantation of the spleen. (Editorial) Ann. Intern. Med. 78: 700-704, 1968. 153. O'Brien, D. P.; Pattinson, J. K.; Tuddenham, E. G. D.: Purification and characterization of factor VIII 372-cys: a hypofunctional cofactor from a patient with moderately severe hemophilia A. Blood 75: 1664-1672, 1990. 154. Oberle, I.; Camerino, G.; Heilig, R.; Grunebaum, L.; Cazenave, J.-P.; Crapanzano, C.; Mannucci, P. M.; Mandel, J.-L.: Genetic screening for hemophilia A (classic hemophilia) with a polymorphic DNA probe. New Eng. J. Med. 312: 682-686, 1985. 155. Oberle, I.; Drayna, D.; Camerino, G.; White, R.; Mandel, J.-L. : The telomeric region of the human X chromosome long arm: presence of a highly polymorphic DNA marker and analysis of recombination frequency. Proc. Nat. Acad. Sci. 82: 2824-2828, 1985. 156. Oldenburg, J.; Rost, S.; El-Maarri, O.; Leuer, M.; Olek, K.; Muller, C. R.; Schwaab, R.: De novo factor VIII gene intron 22 inversion in a female carrier presents as a somatic mosaicism. Blood 96: 2905-2906, 2000. 157. Pasi, K. J.: Gene therapy for haemophilia. Brit. J. Haemat. 115: 744-757, 2001. 158. Patterson, M.; Gitschier, J.; Bloomfield, J.; Bell, M.; Dorkins, H.; Froster-Iskenius, U.; Sommer, S.; Sobell, J.; Schaid, D.; Thibodeau, S.; Davies, K. E.: An intronic region within the human factor VIII gene is duplicated within Xq28 and is homologous to the polymorphic locus DXS115 (767). Am. J. Hum. Genet. 44: 679-685, 1989. 159. Patterson, M.; Schwartz, C.; Bell, M.; Sauer, S.; Hofker, M.; Trask, B.; van den Engh, G.; Davies, K. E.: Physical mapping studies on the human X chromosome in the region Xq27-Xqter. Genomics 1: 297-306, 1987. 160. Pattinson, J. K.; Millar, D. S.; McVey, J. H.; Grundy, C. B.; Wieland, K.; Mibashan, R. S.; Martinowitz, U.; Tan-Un, K.; Vidaud, M.; Goossens, M.; Sampietro, M.; Mannucci, P. M.; and 17 others : The molecular genetic analysis of hemophilia A: a directed search strategy for the detection of point mutations in the human factor VIII gene. Blood 76: 2242-2248, 1990. 161. Paynton, C.; Sarkar, G.; Sommer, S. S.: Identification of mutations in two families with sporadic hemophilia A. Hum. Genet. 87: 397-400, 1991. 162. Peake, I. R.; Lillicrap, D. P.; Liddell, M. B.; Matthews, R. J.; Bloom, A. L.: Linked and intragenic probes for haemophilia A. Lancet II: 1003-1004, 1985. 163. Pecorara, M.; Casarino, L.; Mori, P. G.; Morfini, M.; Mancuso, G.; Scrivano, A. M.; Boeri, E.; Molinari, A. C.; De Biasi, R.; Ciavarella, N.; Bencivelli, F.; Repa, T.; Barbujani, G.; Loi, A.; Perseu, L.; Cao, A.; Pirastu, M.: Hemophilia A: carrier detection and prenatal diagnosis by DNA analysis. Blood 70: 531-535, 1987. 164. Pieneman, W. C.; Reitsma, P. H.; Briet, E.: Double strand conformation polymorphism (DSCP) detects two point mutations at codon 280 (AAC-ATC) and at codon 431 (TACAAC) of the blood coagulation factor VIII gene. Thromb. Haemost. 69: 473-475, 1993. 165. Pignone, A.; Matucci-Cerinic, M.; Morfini, M.; Lombardi, A.; Rossi Ferrini, P. L.; Cagnoni, M.: Suppression of autoantibodies to factor VIII and correction of factor VIII deficiency with a combined steroidcyclophosphamide-porcine factor VIII treatment in a patient with rheumatoid arthritis. J. Intern. Med. 231: 617-619, 1992. 166. Pola, V.; Svojitka, J.: Klassische Haemophilie bei Frauen. Folia Haemat. 75: 43-51, 1957. 167. Poustka, A.; Dietrich, A.; Langenstein, G.; Toniolo, D.; Warren, S. T.; Lehrach, H.: Physical map of human Xq27-qter: localizing the region of the fragile X mutation. Proc. Nat. Acad. Sci. 88: 8302-8306, 1991. 168. Pratt, K. P.; Shen, B. W.; Takeshima, K.; Davie, E. W.; Fujikawa, K.; Stoddard, B. L.: Structure of the C2 domain of human factor VIII at 1.5 angstrom resolution. Nature 402: 439-442, 1999. 169. Rapaport, S. I.; Patch, M. J.; Moore, F. J.: Anti-hemophilic globulin levels in carriers of hemophilia A. J. Clin. Invest. 39: 1619-1625, 1960. 170. Ratnoff, O. D.: Antihemophilic factor (factor VIII). Ann. Intern. Med. 88: 403-409, 1978. 171. Ratnoff, O. D.; Bennett, B.: The genetics of hereditary disorders of blood coagulation. Science 179: 1291-1298, 1973. 172. Ratnoff, O. D.; Lewis, J. H.: Heckathorn's disease: variable functional deficiency of antihemophilic factor (factor VIII). Blood 46: 161-173, 1975. 173. Reiner, A. P.; Stray, S. M.; Thompson, A. R.: Three missense mutations in Arg codons of the factor VIII gene of mild to moderately severe hemophilia A patients. Thromb. Res. 66: 93-99, 1992. 174. Reiner, A. P.; Thompson, A. R.: Screening for nonsense mutations in patients with severe hemophilia A can provide rapid, direct carrier detection. Hum. Genet. 89: 88-94, 1992. 175. Richardson, D. W.; Robinson, A. G.: Desmopressin. Ann. Intern. Med. 103: 228-239, 1985. 176. Roberts, D. F.: The genetic basis of variation in factor VIII levels among haemophiliacs. J. Med. Genet. 8: 136-139, 1971. 177. Robertson, J. H.; Trueman, R. G.: Combined hemophilia and Christmas disease. Blood 24: 281-288, 1964. 178. Rosendaal, F. R.; Briet, E.; Stibbe, J.; van Herpen, G.; Gevers Leuven, J. A.; Hofman, A.; Vandenbroucke, J. P.: Haemophilia protects against ischaemic heart disease: a study of risk factors. Brit. J. Haemat. 75: 525-530, 1990. 179. Rosendaal, F. R.; Brocker-Vriends, A. H. J. T.; van Houwelingen, J. C.; Smit, C.; Varekamp, I.; van Dijck, H.; Suurmeijer, T. P. B. M.; Vandenbroucke, J. P.; Briet, E.: Sex ratio of the mutation frequencies in haemophilia A: estimation and meta-analysis. Hum. Genet. 86: 139-146, 1990. 180. Rossiter, J. P.; Young, M.; Kimberland, M. L.; Hutter, P.; Ketterling, R. P.; Gitschier, J.; Horst, J.; Morris, M. A.; Schaid, D. J.; de Moerloose, P.; Sommer, S. S.; Kazazian, H. H., Jr.; Antonarakis, S. E.: Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells. Hum. Molec. Genet. 3: 1035-1039, 1994. 181. Roth, D. A.; Tawa, N. E., Jr.; O'Brien, J. M.; Treco, D. A.; Selden, R. F.: Nonviral transfer of the gene encoding coagulation factor VIII in patients with severe hemophilia A. New Eng. J. Med. 344: 1735-1742, 2001. 182. Saiki, R. K.; Scharf, S.; Faloona, F.; Mullis, K. B.; Horn, G. T.; Erlich, H. A.; Arnheim, N.: Enzymatic amplification of betaglobin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science 230: 1350-1354, 1985. 183. Samama, M.; Perrotez, C.; Houissa, R.; Hafsia, A.; Seger, J. : Hemophilic A feminine avec deletion d'une partie du bras long d'un chromosome X. Path. Biol. (Paris) 25 (suppl.): 10-17, 1977. 184. Schiffman, S.; Rapaport, S. I.: Increased factor VIII levels in suspected carriers of hemophilia A: taking contraceptives by mouth. New Eng. J. Med. 275: 599, 1966. 185. Schwaab, R.; Brackmann, H.-H.; Meyer, C.; Seehafer, J.; Kirchgesser, M.; Haack, A.; Olek, K.; Tuddenham, E. G. D.; Oldenburg, J.: Haemophilia A: mutation type determines risk of inhibitor formation. Thromb. Haemat. 74: 1402-1406, 1995. 186. Schwaab, R.; Oldenburg, J.; Tuddenham, E. G. D.; Brackmann, H. H.; Olek, K.: Mutations in haemophilia A. Brit. J. Haemat. 83: 450-458, 1993. 187. Schwartz, R. S.; Abildgaard, C. F.; Aledort, L. M.; Arkin, S.; Bloom, A. L.; Brackmann, H. H.; Brettler, D. B.; Fukui, H.; Hilgartner, M. W.; Inwood, M. J.; Kasper, C. K.; Kernoff, P. B. A.; Levine, P. H.; Lusher, J. M.; Mannucci, P. M.; Scharrer, I.; MacKenzie, M. A.; Pancham, N.; Kuo, H. S.; Allred, R. U.; the Recombinant Factor VIII Study Group: Human recombinant DNA-derived antihemophilic factor (factor VIII) in the treatment of hemophilia A. New Eng. J. Med. 323: 1800-1805, 1990. 188. Seligsohn, U.; Zivelin, A.; Perez, C.; Modan, M. A.: Detection of hemophilia A carriers by replicate factor VIII activity and factor VIII antigenicity determinations. Brit. J. Haemat. 42: 433-439, 1979. 189. Shima, M.; Ware, J.; Yoshioka, A.; Fukui, H.; Fulcher, C. A. : An arginine to cysteine amino acid substitution at a critical thrombin cleavage site in a dysfunctional factor VIII molecule. Blood 74: 1612-1617, 1989. 190. Sie, P.; Caranobe, C.; Benalioua, M.; Boneu, B.: Homozygous hemophilia A in a female. (Letter) Thromb. Haemost. 54: 728 only, 1985. 191. Smith, C. A. B.: Personal Communication. London 1968. 192. Soucie, J. M.; Evatt, B.; Jackson, D.; Hemophilia Surveillance System Project Investigators: Occurrence of hemophilia in the United States. Am. J. Hemat. 59: 288-294, 1998. 193. Stevens, R. F.: The history of haemophilia in the royal families of Europe. Brit. J. Haemat. 105: 25-32, 1999. 194. Stites, D. P.; Hershgold, E. J.; Perlman, J. D.; Fudenberg, H. H.: Factor VIII detection by hemagglutination inhibition: hemophilia A and von Willebrand's disease. Science 171: 196-197, 1971. 195. Stoneking, M.; Melton, T.; Nott, J.; Barritt, S.; Roby, R.; Holland, M.; Weedn, V.; Gill, P.; Kimpton, C.; Aliston-Greiner, R.; Sullivan, K.: Establishing the identity of Anna Anderson Manahan. (Letter) Nature Genet. 9: 9-10, 1995. 196. Tantravahi, U.; Murty, V. V. V. S.; Jhanwar, S. C.; Toole, J. J.; Woozney, J. M.; Chaganti, R. S. K.; Latt, S. A.: Physical mapping of the factor VIII gene proximal to two polymorphic DNA probes in human chromosome band Xq28: implications for factor VIII gene segregation analysis. Cytogenet. Cell Genet. 42: 75-79, 1986. 197. Toole, J. J.; Knopf, J. L.; Wozney, J. M.; Sultzman, L. A.; Buecker, J. L.; Pittman, D. D.; Kaufman, R. J.; Brown, E.; Shoemaker, C.; Orr, E. C.; Amphlett, G. W.; Foster, W. B.; Coe, M. L.; Knutson, G. J.; Fass, D. N.; Hewick, R. M.: Molecular cloning of a cDNA encoding human antihaemophilic factor. Nature 312: 342-347, 1984. 198. Traystman, M. D.; Higuchi, M.; Kasper, C. K.; Antonarakis, S. E.; Kazazian, H. H., Jr.: Use of denaturing gradient gel electrophoresis to detect point mutations in the factor VIII gene. Genomics 6: 293-301, 1990. 199. Tuddenham, E. G. D.; Lazarchick, J.; Hoyer, L. W.: Synthesis and release of factor VIII by cultured human endothelial cells. Brit. J. Haemat. 47: 617-626, 1981. 200. VandenDriessche, T.; Vanslembrouck, V.; Goovaerts, I.; Zwinnen, H.; Vanderhaeghen, M.-L.; Collen, D.; Chuah, M. K. L.: Long-term expression of human coagulation factor VIII and correction of hemophilia A after in vivo retroviral gene transfer in factor VIII-deficient mice. Proc. Nat. Acad. Sci. 96: 10379-10384, 1999. 201. Vidaud, D.; Vidaud, M.; Plassa, F.; Gazengel, C.; Noel, B.; Goossens, M.: Father-to-son transmission of hemophilia A due to uniparental disomy. (Abstract) Am. J. Hum. Genet. 45 (suppl.): A226 only, 1989. 202. Vogel, F.: A probable sex difference in some mutation rates. Am. J. Hum. Genet. 29: 312-319, 1977. 203. Wacey, A. I.; Kemball-Cook, G.; Kazazian, H. H.; Antonarakis, S. E.; Schwaab, R.; Lindley, P.; Tuddenham, E. G. D.: The haemophilia A mutation search test and resource site, home page of the factor VIII mutation database: HAMSTeRS. Nucleic Acids Res. 24: 100-102, 1996. 204. Wehnert, M.; Herrmann, F. H.; Wulff, K.: Partial deletions of factor VIII gene as molecular diagnostic markers in hemophilia A. Dis. Markers 7: 113-117, 1989. 205. Windsor, S.; Lyng, A.; Taylor, S. A. M.; Ewenstein, B. M.; Neufeld, E. J.; Lillicrap, D.: Severe haemophilia A in a female resulting from two de novo factor VIII mutations. Brit. J. Haemat. 90: 906-909, 1995. 206. Winter, R. M.; Tuddenham, E. G. D.; Goldman, E.; Matthews, K. B.: A maximum likelihood estimate of the sex ratio of mutation rates in haemophilia A. Hum. Genet. 64: 156-159, 1983. 207. Wood, W. I.; Capon, D. J.; Simonsen, C. C.; Eaton, D. L.; Gitschier, J.; Keyt, B.; Seeburg, P. H.; Smith, D. H.; Hollingshead, P.; Wion, K. L.; Delwart, E.; Tuddenham, E. G. D.; Vehar, G. A.; Lawn, R. M. : Expression of active human factor VIII from recombinant DNA clones. Nature 312: 330-337, 1984. 208. Woodliff, H. J.; Jackson, J. M.: Combined haemophilia and Christmas disease: a genetic study of a patient and his relatives. Med. J. Aust. 53: 658-661, 1966. 209. Woods-Samuels, P.; Wong, C.; Mathias, S. L.; Scott, A. F.; Kazazian, H. H., Jr.; Antonarakis, S. E.: Characterization of a nondeleterious L1 insertion in an intron of the human factor VIII gene and further evidence of open reading frames in functional L1 elements. Genomics 4: 290-296, 1989. 210. Woolf, L. I.: Gene expression in heterozygotes. Nature 194: 609-610, 1962. 211. Young, M.; Inaba, H.; Hoyer, L. W.; Higuchi, M.; Kazazian, H. H., Jr.; Antonarakis, S. E.: Partial correction of a severe molecular defect in hemophilia A, because of errors during expression of the factor VIII gene. Am. J. Hum. Genet. 60: 565-573, 1997. 212. Youssoufian, H.; Antonarakis, S. E.; Aronis, S.; Tsiftis, G.; Phillips, D. G.; Kazazian, H. H., Jr.: Characterization of five partial deletions of the factor VIII gene. Proc. Nat. Acad. Sci. 84: 3772-3776, 1987. 213. Youssoufian, H.; Antonarakis, S. E.; Bell, W.; Griffin, A. M.; Kazazian, H. H., Jr.: Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides. Am. J. Hum. Genet. 42: 718-725, 1988. 214. Youssoufian, H.; Antonarakis, S. E.; Kasper, C. K.; Phillips, D. G.; Kazazian, H. H., Jr.: The spectrum and origin of mutations in hemophilia A. (Abstract) Am. J. Hum. Genet. 41: A249 only, 1987. 215. Youssoufian, H.; Kasper, C. K.; Phillips, D. G.; Kazazian, H. H., Jr.; Antonarakis, S. E.: Restriction endonuclease mapping of six novel deletions of the factor VIII gene in hemophilia A. Hum. Genet. 80: 143-148, 1988. 216. Youssoufian, H.; Kazazian, H. H., Jr.; Phillips, D. G.; Aronis, S.; Tsiftis, G.; Brown, V. A.; Antonarakis, S. E.: Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots. Nature 324: 380-382, 1986. 217. Youssoufian, H.; Wong, C.; Aronis, S.; Platokoukis, H.; Kazazian, H. H., Jr.; Antonarakis, S. E.: Moderately severe hemophilia A resulting from glu-to-gly substitution in exon 7 of the factor VIII gene. Am. J. Hum. Genet. 42: 867-871, 1988. 218. Zacharski, L. R.; Bowie, E. J. W.; Titus, J. L.; Owen, C. A., Jr.: Synthesis of antihemophilic factor (factor VIII) by leukocytes: preliminary report. Mayo Clin. Proc. 43: 617-619, 1968. 219. Zimmerman, T. S.; Ratnoff, O. D.; Littell, A. S.: Detection of carriers of classic hemophilia using an immunologic assay for antihemophilic factor (factor VIII). J. Clin. Invest. 50: 255-258, 1971. 220. Zimmerman, T. S.; Ratnoff, O. D.; Powell, A. E.: Immunologic differentiation of classic hemophilia (factor VIII deficiency) and von Willebrand's disease, with observations on combined deficiencies of antihemophilic factor and proaccelerin (factor V) and on an acquired circulating anticoagulant against antihemophilic factor. J. Clin. Invest. 50: 244-245, 1971.
[0012903]3491.Endo, F.; Katoh, H.; Matsuda, I.: Putative genetic deficiency of 4-hydroxyphenylpyruvic acid dioxygenase in mice: a murine model for hereditary tyrosinaemia type III. J. Inherit. Metab. Dis. 13: 780-782, 1990.
[0012904]3492.Endo, F.; Katoh, H.; Yamamoto, S.; Matsuda, I.: A murine model for type III tyrosinemia: lack of immunologically detectable 4-hydroxyphenylpyruvic acid dioxygenase enzyme protein in a novel mouse strain with hypertyrosinemia. Am. J. Hum. Genet. 48: 704-709, 1991.
[0012905]3493.Endo, F.; Kitano, A.; Uehara, I.; Nagata, N.; Matsuda, I.; Shinka, T.; Kuhara, T.; Matsumoto, I.: 4-Hydroxyphenylpyruvic acid oxidase deficiency with normal fumarylacetoacetase: a new variant form of hereditary hypertyrosinemia. Pediat. Res. 17: 92-96, 1983.
[0012906]3494.Giardini, O.; Cantani, A.; Kennaway, N. G.; D'Eufemia, P.: Chronic tyrosinemia associated with 4-hydroxyphenylpyruvate dioxygenase deficiency with acute intermittent ataxia and without visceral and bone involvement. Pediat. Res. 17: 25-29, 1983.
[0012907]3495.Ruetschi, U.; Cerone, R.; Perez-Cerda, C.; Schiaffino, M. C.; Standing, S.; Ugarte, M.; Holme, E.: Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III. Hum. Genet. 106: 654-662, 2000.
[0012908]3496.Ruetschi, U.; Dellsen, A.; Sahlin, P.; Stenman, G.; Rymo, L.; Lindstedt, S.: Human 4-hydroxyphenylpyruvate dioxygenase: primary structure and chromosomal localization of the gene. Europ. J. Biochem. 213: 1081-1089, 1993.
[0012909]3497.Ruetschi, U.; Rymo, L.; Lindstedt, S.: Human 4-hydroxyphenylpyruvate dioxygenase gene (HPD). Genomics 44: 292-299, 1997.
[0012910]3498.Stenman, G.; Roijer, E.; Ruetschi, U.; Dellsen, A.; Rymo, L.; Lindstedt, S.: Regional assignment of the human 4-hydroxyphenylpyruvate dioxygenase gene (HPD) to 12q24-qter by fluorescence in situ hybridization. Cytogenet. Cell Genet. 71: 374-376, 1995.
[0012911]3499.Manga, P.; Kromberg, J. G. R.; Box, N. F.; Sturm, R. A.; Jenkins, T.; Ramsay, M.: Rufous oculocutaneous albinism in southern African blacks is caused by mutations in the TYRP1 gene. Am. J. Hum. Genet. 61: 1095-1101, 1997.
[0012912]3500.Cleaver, J. E.: Personal Communication. San Francisco, Calif. 1/15/1993.
[0012913]3501.Murrell, J. R.; Spillantini, M. G.; Zolo, P.; Guazzelli, M.; Smith, M. J.; Hasegawa, M.; Redi, F.; Crowther, R. A.; Pietrini, P.; Ghetti, B.; Goedert, M.: Tau gene mutation G389R causes a tauopathy with abundant Pick body-like inclusions and axonal deposits. J. Neuropath. Exp. Neurol. 58: 1207-1226, 1999.
[0012914]3502.Nagase, T.; Ishikawa, K.; Kikuno, R.; Hirosawa, M.; Nomura, N.; Ohara, O.: Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. DNA Res. 6: 337-345, 1999.
[0012915]3503.Neumann, M.; Schulz-Schaeffer, W.; Crowther, R. A.; Smith, M. J.; Spillantini, M. G.; Goedert, M.; Kretzschmar, H. A.: Pick's disease associated with the novel tau gene mutation K369I. Ann. Neurol. 50: 503-513, 2001.
[0012916]3504.Neve, R. L.; Harris, P.; Kosik, K. S.; Kurnit, D. M.; Donlon, T. A.: Identification of cDNA clones for the human microtubule-associated protein tau and chromosomal localization of the genes for tau and microtubule-associated protein 2. Molec. Brain Res. 1: 271-280, 1986.
[0012917]3505.Pickering-Brown, S.; Baker, M.; Yen, S.-H.; Liu, W.-K.; Hasegawa, M.; Cairns, N.; Lantos, P. L.; Rossor, M.; Iwatsubo, T.; Davies, Y.; Allsop, D.; Furlong, R.; Owen, F.; Hardy, J.; Mann, D.; Hutton, M. : Pick's disease is associated with mutations in the tau gene. Ann. Neurol. 48: 859-867, 2000.
[0012918]3506.Poorkaj, P.: Personal Communication. Seattle, Wash. 11/10/1998.
[0012919]3507.Poorkaj, P.; Bird, T. D.; Wijsman, E.; Nemens, E.; Garruto, R. M.; Anderson, L.; Andreadis, A.; Wiederholt, W. C.; Raskind, M.; Schellenberg, G. D.: Tau is a candidate gene for chromosome 17 frontotemporal dementia. Ann. Neurol. 43: 815-825, 1998.
[0012920]3508.Poorkaj, P.; Kas, A.; D'Souza, I.; Zhou, Y.; Pham, Q.; Stone, M.; Olson, M. V.; Schellenberg, G. D.: A genomic sequence analysis of the mouse and human microtubule-associated protein tau. Mammalian Genome 12: 700-712, 2001.
[0012921]3509.Rapoport, M.; Dawson, H. N.; Binder, L. I.; Vitek, M. P.; Ferreira, A.: Tau is essential to beta-amyloid-induced neurotoxicity. Proc. Nat. Acad. Sci. 99: 6364-6369, 2002.
[0012922]3510.Rizzu, P.; Van Swieten, J. C.; Joosse, M.; Hasegawa, M.; Stevens, M.; Tibben, A.; Niermeijer, M. F.; Hillebrand, M.; Ravid, R.; Oostra, B. A.; Goedert, M.; van Duijn, C. M.; Heutink, P.: High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands. Am. J. Hum. Genet. 64: 414-421, 1999.
[0012923]3511.Spillantini, M. G.; Murrell, J. R.; Goedert, M.; Farlow, M. R.; Klug, A.; Ghetti, B.: Mutation in the tau gene in familial multiple system tauopathy with presenile dementia. Proc. Nat. Acad. Sci. 95: 7737-7741, 1998.
[0012924]3512.Spillantini, M. G.; Yoshida, H.; Rizzini, C.; Lantos, P. L.; Khan, N.; Rossor, M. N.; Goedert, M.; Brown, J.: A novel tau mutation (N296N) in familial dementia with swollen achromatic neurons and corticobasal inclusion bodies. Ann. Neurol. 48: 939-943, 2000.
[0012925]3513.Stambolic, V.; Ruel, L.; Woodgett, J. R.: Lithium inhibits glycogen synthase kinase-3 activity and mimics Wingless signalling in intact cells. Curr. Biol. 6: 1664-1668, 1996. Note: Erratum: Curr. Biol. 7: 196 only, 1997.
[0012926]3514.Stamer, K.; Vogel, R.; Thies, E.; Mandelkow, E.; Mandelkow, E.-M. : Tau blocks traffic of organelles, neurofilaments, and APP vesicles in neurons and enhances oxidative stress. J. Cell Biol. 156: 1051-1063, 2002.
[0012927]3515.Varani, L.; Hasegawa, M.; Spillantini, M. G.; Smith, M. J.; Murrell, J. R.; Ghetti, B.; Klug, A.; Goedert, M.; Varani, G.: Structure of tau exon 10 splicing regulatory element RNA and destabilization by mutations of frontotemporal dementia and parkinsonism linked to chromosome 17. Proc. Nat. Acad. Sci. 96: 8229-8234, 1999.
[0012928]3516.Verpillat, P.; Camuzat, A.; Hannequin, D.; Thomas-Anterion, C.; Puel, M.; Belliard, S.; Dubois, B.; Didic, M.; Michel, B.-F.; Lacomblez, L.; Moreaud, O.; Sellal, F.; Golfier, V.; Campion, D.; Clerget-Darpoux, F.; Brice, A.: Association between the extended tau haplotype and frontotemporal dementia. Arch. Neurol. 59: 935-939, 2002.
[0012929]3517.Wilhelmsen, K. C.; Lynch, T.; Pavlou, E.; Higgins, M.; Hygaard, T. G.: Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22. Am. J. Hum. Genet. 55: 1159-1165, 1994.
[0012930]3518.Yasuda, M.; Yokoyama, K.; Nakayasu, T.; Nishimura, Y.; Matsui, M.; Yokoyama, T.; Miyoshi, K.; Tanaka, C.: A Japanese patient with frontotemporal dementia and parkinsonism by a tau P301S mutation. Neurology 55: 1224-1227, 2000.
[0012931]3519.Zhukareva, V.; Mann, D.; Pickering-Brown, S.; Uryu, K.; Shuck, T.; Shah, K.; Grossman, M.; Miller, B. L.; Hulette, C. M.; Feinstein, S. C.; Trojanowski, J. Q.; Lee, V. M.-Y.: Sporadic Pick's disease: a tauopathy characterized by a spectrum of pathological tau isoforms in gray and white matter. Ann. Neurol. 51: 730-739, 2002.
[0012932]3520.Amack, J. D.; Mahadevan, M. S.: The myotonic dystrophy expanded CUG repeat tract is necessary but not sufficient to disrupt C2C12 myoblast differentiation. Hum. Molec. Genet. 10: 1879-1887, 2001.
[0012933]3521.Chen, S. L.; Dowhan, D. H.; Hosking, B. M.; Muscat, G. E. O.: The steroid receptor coactivator, GRIP-1, is necessary for MEF-2C-dependent gene expression and skeletal muscle differentiation. Genes Dev. 14: 1209-1228, 2000.
[0012934]3522.Hasty, P.; Bradley, A.; Morris, J. H.; Edmondson, D. G.; Venuti, J. M.; Olson, E. N.; Klein, W. H.: Muscle deficiency and neonatal death in mice with a targeted mutation in the myogenin gene. Nature 364: 501-506, 1993.
[0012935]3523.Nabeshima, Y.; Hanaoka, K.; Hayasaka, M.; Esumi, E.; Li, S.; Nonaka, I.; Nabeshima, Y.-I.: Myogenin gene disruption results in perinatal lethality because of severe muscle defect. Nature 364: 532-535, 1993.
[0012936]3524.Braun, T.; Bober, E.; Winter, B.; Rosenthal, N.; Arnold, H. H. : Myf-6, a new member of the human gene family of myogenic determination factors: evidence for a gene cluster on chromosome 12. EMBO J. 9: 821-831, 1990.
[0012937]3525.Olson, E.; Edmondson, D.; Wright, W. E.; Lin, V. K.; Guenet, J.-L.; Simon-Chazottes, D.; Thompson, L. H.; Stallings, R. L.; Schroeder, W. T.; Duvic, M.; Brock, D.; Helin, D.; Siciliano, M. J.: Myogenin is in an evolutionarily conserved linkage group on human chromosome 1q31-q41 and unlinked to other mapped muscle regulatory factor genes. Genomics 8: 427-434, 1990.
[0012938]3526.Cupelli, L.; Renault, B.; Leblanc-Straceski, J.; Banks, A.; Ward, D.; Kucherlapati, R. S.; Krauter, K.: Assignment of the human myogenic factors 5 and 6 (MYF5, MYF6) gene cluster to 12q21 by in situ hybridization and physical mapping of the locus between D12S350 and D12S106. Cytogenet. Cell Genet. 72: 250-251, 1996.
[0012939]3527.Kerst, B.; Mennerich, D.; Schuelke, M.; Stoltenburg-Didinger, G.; von Moers, A.; Gossrau, R.; van Landeghem, F. K. H.; Speer, A.; Braun, T.; Hubner, C.: Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy. Neuromusc. Disord. 10: 572-577, 2000.
[0012940]3528.Miner, J. H.; Wold, B.: Herculin: a fourth member of the MyoD family of myogenic regulatory genes. Proc. Nat. Acad. Sci. 87: 1089-1093, 1990.
[0012941]3529.Rhodes, S. J.; Konieczny, S. F.: Identification of MRF4: a new member of the muscle regulatory factor gene family. Genes Dev. 3: 2050-2061, 1989.
[0012942]3530.Yun, K.; Wold, B.: Skeletal muscle determination and differentiation: story of a core regulatory network and its context. Curr. Opin. Cell Biol. 8: 877-889, 1996.
[0012943]3531.Akaboshi, E.: Cloning of the human myoglobin gene. Gene 33: 241-249, 1985.
[0012944]3532.Boulton, F. E.; Huntsman, R. G.; Lehmann, H.; Lorkin, P. A.; Romero-Herrera, A. E.: Myoglobin variants. (Abstract) Biochem. J. 118: 39P only, 1970.
[0012945]3533.Boulton, F. E.; Huntsman, R. G.; Lorkin, P. A.; Lehmann, H.: Abnormal human myoglobin: 53(D4) glutamic acid lysine. Nature 223: 832-833, 1969.
[0012946]3534.Boulton, F. E.; Huntsman, R. G.; Yawson, G. I.; Romero-Herrera, A. E.; Lorkin, P. A.: The second variant of human myoglobin: 138(H16) arginine to glutamine. Brit. J. Haemat. 20A: 69-74, 1971.
[0012947]3535.Boyer, S. H.: Similar incidence and non-randomness among human myoglobin and hemoglobin mutants in general populations: implications for the study of myoglobin in muscle disease.In: Pathogenesis of Human Muscular Dystrophies. Proc. Vth Int. Cong. of Muscular Dystrophy Assoc., Durango, Colo., June 21-25, 1976. Amsterdam: Excerpta Medica (pub.) 1977.
[0012948]3536.Boyer, S. H.; Fainer, D. C.; Naughton, M. A.: Myoglobin inherited structural variation in man. Science 140: 1228-1231, 1963.
[0012949]3537.Dozier, C.; Walbaum, S.; Leprince, D.; Stehelin, D.: EcoRI RFLP linked to the human myb gene. Nucleic Acids Res. 14: 1928 only, 1986.
[0012950]3538.Garry, D. J.; Ordway, G. A.; Lorenz, J. N.; Radford, N. B.; Chin, E. R.; Grange, R. W.; Bassel-Duby, R.; Williams, R. S.: Mice without myoglobin. Nature 395: 905-908, 1998.
[0012951]3539.Godecke, A.; Flogel, U.; Zanger, K.; Ding, Z.; Hirchenhain, J.; Decking, U. K. M.; Schrader, J.: Disruption of myoglobin in mice induces multiple compensatory mechanisms. Proc. Nat. Acad. Sci. 96: 10495-10500, 1999.
[0012952]3540.Jeffreys, A.; Wilson, V.; Thein, S.: Hypervariable 'minisatellite' regions in human DNA. Science 314: 67-73, 1985.
[0012953]3541.Jeffreys, A. J.; Wilson, V.; Blanchetot, A.; Weller, P.; Geurts van Kessel, A.; Spurr, N.; Solomon, E.; Goodfellow, P.: The human myoglobin gene: a third dispersed globin locus in the human genome. Nucleic Acids Res. 12: 3235-3243, 1984.
[0012954]3542.McKeithan, T. W.; Rowley, J. D.; Shows, T. B.; Diaz, M. O.: Cloning of the chromosome translocation breakpoint junction of the t(14;19) in chronic lymphocytic leukemia. Proc. Nat. Acad. Sci. 84: 9257-9260, 1987.
[0012955]3543.de Groot, N. G.; Otting, N.; Doxiadis, G. G. M.; Balla-Jhagjhoorsingh, S. S.; Heeney, J. L.; van Rood, J. J.; Gagneux, P.; Bontrop, R. E. : Evidence for an ancient selective sweep in the MHC class I gene repertoire of chimpanzees. Proc. Nat. Acad. Sci. 99: 11748-11753, 2002.
[0012956]3544.Del Pozzo, G.; Guardiola, J.: Mummy DNA fragment identified. (Letter) Nature 339: 431-432, 1989.
[0012957]3545.Dorf, M. E.; Balner, H.; DeGroot, M. L.; Benacerraf, B.: Histocompatibility-linked immune-response genes in the Rhesus monkey. Transplant. Proc. 6: 119-124, 1974.
[0012958]3546.Edwards, J. H.; Allen, F. H.; Glenn, K. P.; Lamm, L. U.; Robson, E. B.: The linkage relationships of HL-A.In: Histocompatibility Testing. Baltimore: Williams and Wilkins (pub.) 1973.
[0012959]3547.Engelfriet, C. P.; Britten, A.: The cytotoxic test for leucocyte antibodies. A simple and reliable technique. Vox Sang. 10: 660-674, 1965.
[0012960]3548.Erlich, H.; Lee, J. S.; Petersen, J. W.; Bugawan, T.; DeMars, R.: Molecular analysis of HLA class I and class II antigen loss mutants reveals a homozygous deletion of the DR, DQ, and part of the DP region: implications for class II gene order. Hum. Immun. 16: 205-219, 1986.
[0012961]3549.Erlich, H. A.; Stetler, D.; Sheng-Dong, R.; Ness, D.; Grumet, C.: Segregation and mapping analysis of polymorphic HLA class I restriction fragments: detection of a novel fragment. Science 222: 72-74, 1983.
[0012962]3550.Fellous, M.; Dausset, J.: Probable haploid expression of HL-A antigens on human spermatozoan. Nature 225: 191-193, 1970.
[0012963]3551.Figueroa, F.; Gunther, E.; Klein, J.: MHC polymorphism pre-dating speciation. (Letter) Nature 335: 265-267, 1988.
[0012964]3552.Francke, U.; Pellegrino, M. A.: Assignment of the major histocompatibility complex to a region of the short arm of human chromosome 6. Proc. Nat. Acad. Sci. 74: 5776 only, 1977.
[0012965]3553.Francke, U.; Pellegrino, M. A.: Assignment of the major histocompatibility complex to a region of the short arm of human chromosome 6. Proc. Nat. Acad. Sci. 74: 1147-1151, 1977.
[0012966]3554.Gill, T. J., III; Cramer, D. V.; Kunz, H. W.: The major histocompatibility complex--comparison in the mouse, man, and the rat: a review. Am. J. Path. 90: 735-777, 1978.
[0012967]3555.Gladstone, P.; Fueresz, L.; Pious, D.: Gene dosage and gene expression in the HLA region: evidence from deletion variants. Proc. Nat. Acad. Sci. 79: 1235-1239, 1982.
[0012968]3556.Gluecksohn-Waelsch, S.; Erickson, R. P.: The T-locus of the mouse: implications for mechanisms of development. Curr. Top. Dev. Biol. 5: 281-316, 1970.
[0012969]3557.Goodfellow, P. N.; Jones, E.; Van Heyningen, V.; Solomon, E.; Kennett, R.; Bobrow, M.; Bodmer, W. F.: Linkage relationships of the HL-A system and beta-2-microglobulin. Birth Defects Orig. Art. Ser. 11(3): 162-167, 1975. Note: Alternate: Cytogenet. Cell Genet. 14: 332-337, 1975.
[0012970]3558.Gruen, J. R.; Nalabolu, S. R.; Chu, T. W.; Bowlus, C.; Fan, W. F.; Goei, V. L.; Wei, H.; Sivakamasundari, R.; Liu, Y.-C.; Xu, H. X.; Parimoo, S.; Nallur, G.; Ajioka, R.; Shukla, H.; Bray-Ward, P.; Pan, J.; Weissman, S. M.: A transcription map of the major histocompatibility complex (MHC) class I region. Genomics 36: 70-85, 1996.
[0012971]3559.Hedrick, S. M.: Dawn of the hunt for nonclassical MHC function. Cell 70: 177-180, 1992.
[0012972]3560.Helenius, A.; Morein, B.; Fries, E.; Simons, K.; Robinson, P.; Schirrmacher, V.; Terhorst, C.; Strominger, J. L.: Human (HLA-A and HLA-B) and murine (H-2K and H-2D) histocompatibility antigens are cell surface receptors for Semliki Forest virus. Proc. Nat. Acad. Sci. 75: 3846-3850, 1978.
[0012973]3561.Hirai, M.; Takahashi, E.; Ishida, T.; Hori, T.: Chromosomal localization of the major histocompatibility complex (MHC) in the rhesus monkey and chimpanzee by fluorescence in situ hybridization. Cytogenet. Cell Genet. 57: 204-205, 1991.
[0012974]3562.Hood, L.; Steinmetz, M.; Goodenow, R.: Genes of the major histocompatibility complex. Cell 28: 685-687, 1982.
[0012975]3563.Jordan, B. R.; Bregegere, F.; Kourilsky, P.: Human HLA gene segment isolated by hybridization with mouse H-2 cDNA probes. Nature 290: 521-523, 1981.
[0012976]3564.Kissmeyer-Nielsen, F.; Jorgensen, F.; Lamm, L. U.: The HL-A system in clinical medicine. Johns Hopkins Med. J. 131: 385-400, 1972.
[0012977]3565.Kissmeyer-Nielsen, F.; Svejgaard, A.; Ahrons, S.; Nielsen, L. S.: Crossing-over within the HL-A system. Nature 224: 75-76, 1969.
[0012978]3566.Kissmeyer-Nielsen, F.; Svejgaard, A.; Hauge, M.: Genetics of the human HL-A transplantation system. Nature 219: 1116-1119, 1968.
[0012979]3567.Kissmeyer-Nielsen, F.; Thorsby, E.: Human transplantation antigens. Transplant. Rev. 4: 1-176, 1970.
[0012980]3568.Klein, J.: The major histocompatibility complex of the mouse. Science 203: 516-521, 1979.
[0012981]3569.Klein, J.; Figueroa, F.: Evolution of the major histocompatibility complex. CRC Crit. Rev. Immun. 6: 295-386, 1986.
[0012982]3570.Kompf, J.; Bissbort, S.; Gohler, F.; Schunter, F.; Wernet, P. : Mapping of the linkage group GLO-Bf-HLA-B, C, A-PGM. I. Recombination frequencies. Hum. Genet. 44: 313-319, 1978.
[0012983]3571.Lamm, L. U.; Friedrich, U.; Petersen, G. B.; Jorgensen, J.; Nielsen, J.; Therkelsen, A. J.; Kissmeyer-Nielsen, F.: Assignment of the major histocompatibility complex to chromosome no. 6 in a family with a pericentric inversion. Hum. Hered. 24: 273-284, 1974.
[0012984]3572.Lamm, L. U.; Kissmeyer-Nielsen, F.; Svejgaard, A.; Petersen, G. B.; Thorsby, E.; Mayr, W.; Hogman, C.: On the orientation of the HL-A region and the PGM(3) locus in the chromosome. Tissue Antigens 2: 205-214, 1972.
[0012985]3573.Lamm, L. U.; Svejgaard, A.; Kissmeyer-Nielsen, F.: Further evidence for PGM(3): HLA is another linkage in man. Nature N.B. 231: 109-110, 1971.
[0012986]3574.Lamm, L. U.; Thorsen, I.-L.; Petersen, G. B.; Jorgensen, J.; Henningsen, K.; Bech, B.; Kissmeyer-Nielsen, F.: Data on the HL-A linkage group. Ann. Hum. Genet. 38: 383-390, 1975.
[0012987]3575.Lawlor, D. A.; Dickel, C. D.; Hauswirth, W. W.; Parham, P.: Ancient HLA genes from 7,500-year-old archaeological remains. Nature 349: 785-788, 1991.
[0012988]3576.Lawlor, D. A.; Ward, F. E.; Ennis, P. D.; Jackson, A. P.; Parham, P.: HLA-A and B polymorphisms predate the divergence of humans and chimpanzees. (Letter) Nature 335: 268-271, 1988.
[0012989]3577.Lawrance, S. K.; Smith, C. L.; Srivastava, R.; Cantor, C. R.; Weissman, S. M.: Megabase-scale mapping of the HLA gene complex by pulsed field gel electrophoresis. Science 235: 1387-1390, 1987.
[0012990]3578.Levine, F.; Erlich, H.; Mach, B.; Leach, R.; White, R.; Pious, D.: Deletion mapping of HLA and chromosome 6p genes. Proc. Nat. Acad. Sci. 82: 3741-3745, 1985.
[0012991]3579.Slate, D. L.; Ruddle, F. H.: Genetics of the interferon system. Pharm. Therap. 4: 221-230, 1979.
[0012992]3580.Stock, A. D.; Hsu, T. C.: Evolutionary conservatism in arrangement of genetic material. A comparative analysis of chromosome banding between the Rhesus macaque (2n=42, 84 arms) and the African green monkey (2n=60, 120 arms). Chromosoma 43: 211-224, 1973.
[0012993]3581.Streuli, M.; Nagata, S.; Weissmann, C.: At least three human type alpha interferons: structure of alpha-2. Science 209: 1343-1347, 1980.
[0012994]3582.Szabo, S. J.; Sullivan, B. M.; Stemmann, C.; Satoskar, A. R.; Sleckman, B. P.; Glimcher, L. H.: Distinct effects of T-bet in T(H)1 lineage commitment and IFN-gamma production in CD4 and CD8 T cells. Science 295: 338-342, 2002.
[0012995]3583.Takayanagi, H.; Ogasawara, K.; Hida, S.; Chiba, T.; Murata, S.; Sato, K.; Takaoka, A.; Yokochi, T.; Oda, H.; Tanaka, K.; Nakamura, K.; Taniguchi, T.: T-cell-mediated regulation of osteoclastogenesis by signalling cross-talk between RANKL and IFN-gamma. Nature 408: 600-605, 2000.
[0012996]3584.Tan, Y. H.; Creagan, R. P.; Ruddle, F. H.: Assignment of the genes of the human interferon system to chromosomes 2 and 5. Cytogenet. Cell Genet. 13: 155-157, 1974.
[0012997]3585.Tan, Y. H.; Ke, Y. H.; Armstrong, J. A.; Ho, M.: The regulation of cellular interferon production: enhancement by antimetabolites. Proc. Nat. Acad. Sci. 67: 464-471, 1970.
[0012998]3586.Trent, J. M.; Olson, S.; Lawn, R. M.: Chromosomal localization of human leukocyte, fibroblast, and immune interferon genes by means of in situ hybridization. Proc. Nat. Acad. Sci. 79: 7809-7813, 1982.
[0012999]3587.Tzoneva, M.; Ganev, V.; Galabov, A.; Georgieva, K.: Selective immunodeficiency with defect in interferon-gamma induction in two sibs with recurrent infections. Clin. Genet. 33: 454-456, 1988.
[0013000]3588.White, A. C., Jr.; Robinson, P.; Okhuysen, P. C.; Lewis, D. E.; Shahab, I.; Lahoti, S.; DuPont, H. L.; Chappell, C. L.: Interferon-gamma expression in jejunal biopsies in experimental human cryptosporidiosis correlates with prior sensitization and control of oocyst excretion. J. Infect. Dis. 181: 701-709, 2000.
[0013001]3589.Yip, Y. K.; Barrowclough, B. S.; Urban, C.; Vilcek, J.: Purification of two subspecies of human gamma (immune) interferon. Proc. Nat. Acad. Sci. 79: 1820-1824, 1982.
[0013002]3590.Zimonjic, D. B.; Rezanka, L. J.; Evans, C. H.; Polymeropoulos, M. H.; Trent, J. M.; Popescu, N. C.: Mapping of the immune interferon gamma gene (IFNG) to chromosome band 12q14 by fluorescence in situ hybridization. Cytogenet. Cell Genet. 71: 247-248, 1995.
[0013003]3591.Zohlnhofer, D.; Richter, T.; Neumann, F.-J.; Nuhrenberg, T.; Wessely, R.; Brandl, R.; Murr, A.; Klein, C. A.; Baeuerle, P. A.: Transcriptome analysis reveals a role of interferon-gamma in human neointoma formation. Molec. Cell 7: 1059-1069, 2001.
[0013004]3592.Zoon, K. C.; Smith, M. E.; Bridgen, P. J.; Anfinsen, C. B.; Hunkapiller, M. W.; Hood, L. E.: Amino terminal sequence of the major component of human lymphoblastoid interferon. Science 207: 527-528, 1980.
[0013005]3593.Schindler, C.; Fu, X.-Y.; Improta, T.; Aebersold, R.; Darnell, J. E., Jr.: Proteins of transcription factor ISGF-3: one gene encodes the 91- and 84-kDa ISGF-3 proteins that are activated by interferon alpha. Proc. Nat. Acad. Sci. 89: 7836-7839, 1992.
[0013006]3594.Eason, D. D.; Shepherd, A. T.; Blanck, G.: Interferon regulatory factor 1 tryptophan 11 to arginine point mutation abolishes DNA binding. Biochim. Biophys. Acta 1446: 140-144, 1999.
[0013007]3595.Savtchenko, E. S.; Tomic, M.; Ivker, R.; Blumenberg, M.: Three parallel linkage groups of human acidic keratin genes. Genomics 7: 394-407, 1990.
[0013008]3596.Rosenberg, M.; Fuchs, E.; Le Beau, M. M.; Eddy, R. L.; Shows, T. B.: Three epidermal and one simple epithelial type II keratin genes map to human chromosome 12. Cytogenet. Cell Genet. 57: 33-38, 1991.
[0013009]3597.Wang, N.; Perkins, K. L.: Involvement of band 3p14 in t(3;8) hereditary renal carcinoma. Cancer Genet. Cytogenet. 11: 479-481, 1984.
[0013010]3598.Schoenmakers, E. F. P. M.; Huysmans, C.; Van de Ven, W. J. M.: Allelic knockout of novel splice variants of human recombination repair gene RAD51B in t(12;14) uterine leiomyomas. Cancer Res. 59: 19-23, 1999.
[0013011]3599.Funk, C. D.; Funk, L. B.; FitzGerald, G. A.; Samuelsson, B.: Characterization of human 12-lipoxygenase genes. Proc. Nat. Acad. Sci. 89: 3962-3966, 1992.
[0013012]3600.Carlsson, B.; Lindell, K.; Gabrielsson, B.; Karlsson, C.; Bjarnason, R.; Westphal, O.; Karlsson, U.; Sjostrom, L.; Carlsson, L. M. S.: Obese (ob) gene defects are rare in human obesity. Obesity Res. 5: 30-35, 1997.
[0013013]3601.Yoshida, M. C.; Sasaki, M.; Mise, K.; Semba, K.; Nishizawa, M.; Yamamoto, T.; Toyoshima, K.: Regional mapping of the human proto-oncogene c-yes-1 to chromosome 18 at band q21.3. Jpn. J. Cancer Res. 76: 559-562, 1985.
[0013014]3602.Chehab, F. F.; Lim, M. E.; Lu, R.: Correction of the sterility defect in homozygous obese female mice by treatment with the human recombinant leptin. Nature Genet. 12: 318-320, 1996.
[0013015]3603.Chen, G.; Koyama, K.; Yuan, X.; Lee, Y.; Zhou, Y.-T.; O'Doherty, R.; Newgard, C. B.; Unger, R. H.: Disappearance of body fat in normal rats induced by adenovirus-mediated leptin gene therapy. Proc. Nat. Acad. Sci. 93: 14795-14799, 1996.
[0013016]3604.Cooke, N. E.; Szpirer, C.; Levan, G.: The related genes encoding growth hormone and prolactin have been dispersed to chromosomes 10 and 17 in the rat. Endocrinology 119: 2451-2454, 1986.
[0013017]3605.Dayhoff, M. O.: Atlas of Protein Sequence and Structure. Hormones, active peptides and toxins. Washington: Biomedical Research Foundation (pub.) 5: 1972. Pp. D202 only.
[0013018]3606.de Boer, H.; van der Veen, E. A.: Why retest young adults with childhood-onset growth hormone deficiency? (Editorial) J. Clin. Endocr. Metab. 82: 2032-2036, 1997.
[0013019]3607.Stoffel, M.; Froguel, P.; Takeda, J.; Zouali, H.; Vionnet, N.; Nishi, S.; Weber, I. T.; Harrison, R. W.; Pilkis, S. J.; Lesage, S.; Vaxillaire, M.; Velho, G.; Sun, F.; Iris, F.; Passa, P.; Cohen, D.; Bell, G. I.: Human glucokinase gene: isolation, characterization, and identification of two missense mutations linked to early-onset non-insulin-dependent (type 2) diabetes mellitus. Proc. Nat. Acad. Sci. 89: 7698-7702, 1992.
[0013020]3608.Cuneo, R. C.; Judd, S.; Wallace, J. D.; Perry-Keene, D.; Burger, H.; Lim-Tio, S.; Strauss, B.; Stockigt, J.; Topliss, D.; Alford, F.; Hew, L.; Bode, H.; Conway, A.; Handelsman, D.; Dunn, S.; Boyages, S.; Cheung, N. W.; Hurley, D.: The Australian multicenter trial of growth hormone (GH) treatment in GH-deficient adults. J. Clin. Endocr. Metab. 83: 107-116, 1998.
[0013021]3609.Duquesnoy, P.; Amselem, S.; Gourmelen, M.; LeBouc, Y.; Goossens, M.: A frameshift mutation causing isolated growth hormone deficiency type 1A. (Abstract) Am. J. Hum. Genet. 47: A110, 1990.
[0013022]3610.Fiddes, J. C.; Seeburg, P. H.; DeNoto, F. M.; Hallewell, R. A.; Baxter, J. D.; Goodman, H. M.: Structure of genes for human growth hormone and chorionic somatomammotropin. Proc. Nat. Acad. Sci. 76: 4294-4298, 1979.
[0013023]3611.George, D. L.; Phillips, J. A., III; Francke, U.; Seeburg, P. H.: The genes for growth hormone and chorionic somatomammotropin are on the long arm of human chromosome 17 in region q21-to-qter. Hum. Genet. 57: 138-141, 1981.
[0013024]3612.Gibney, J.; Wallace, J. D.; Spinks, T.; Schnorr, L.; Ranicar, A.; Cuneo, R. C.; Lockhart, S.; Burnand, K. G.; Salomon, F.; Sonksen, P. H.; Russell-Jones, D.: The effects of 10 years of recombinant human growth hormone (GH) in adult GH-deficient patients. J. Clin. Endocr. Metab. 84: 2596-2602, 1999.
[0013025]3613.Goossens, M.; Brauner, R.; Czernichow, P.; Duquesnoy, P.; Rappaport, R.: Isolated growth hormone (GH) deficiency type 1A associated with a double deletion in the human GH gene cluster. J. Clin. Endocr. Metab. 62: 712-716, 1986.
[0013026]3614.Grumbach, M. M.: Personal Communication. San Francisco, Calif. 1981.
[0013027]3615.Guyda, H. J.: Four decades of growth hormone therapy for short children: what have we achieved? J. Clin. Endocr. Metab. 84: 4307-4316, 1999.
[0013028]3616.Harper, M. E.; Barrera-Saldana, H. A.; Saunders, G. F.: Chromosomal localization of the human placental lactogen-growth hormone gene cluster to 17q22-24. Am. J. Hum. Genet. 34: 227-234, 1982.
[0013029]3617.Hasegawa, Y.; Fujii, K.; Yamada, M.; Igarashi, Y.; Tachibana, K.; Tanaka, T.; Onigata, K.; Nishi, Y.; Kato, S.; Hasegawa, T.: Identification of novel human GH-1 gene polymorphisms that are associated with growth hormone secretion and height. J. Clin. Endocr. Metab. 85: 1290-1295, 2000.
[0013030]3618.Hayashi, Y.; Yamamoto, M.; Ohmori, S.; Kamijo, T.; Ogawa, M.; Seo, H.: Inhibition of growth hormone (GH) secretion by a mutant GH-I gene product in neuroendocrine cells containing secretory granules: an implication for isolated GH deficiency inherited in an autosomal dominant manner. J. Clin. Endocr. Metab. 84: 2134-2139, 1999.
[0013031]3619.He, Y. A.; Chen, S. S.; Wang, Y. X.; Lin, X. Y.; Wang, D. F.: A Chinese familial growth hormone deficiency with a deletion of 7.1 kb of DNA. J. Med. Genet. 27: 151-154, 1990.
[0013032]3620.Hindmarsh, P. C.; Dennison, E.; Pincus, S. M.; Cooper, C.; Fall, C. H. D.; Matthews, D. R.; Pringle, P. J.; Brook, C. G. D.: A sexually dimorphic pattern of growth hormone secretion in the elderly. J. Clin. Endocr. Metab. 84: 2679-2685, 1999.
[0013033]3621.Munier, F. L.; Korvatska, E.; Djemai, A.; Le Paslier, D.; Zografos, L.; Pescia, G.; Schorderet, D. F.: Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nature Genet. 15: 247-251, 1997.
[0013034]3622.Irvine, A. D.; Corden, L. D.; Swensson, O.; Swensson, B.; Moore, J. E.; Frazer, D. G.; Smith, F. J. D.; Knowlton, R. G.; Christophers, E.; Rochels, R.; Uitto, J.; McLean, W. H. I.: Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. Nature Genet. 16: 184-187, 1997.
[0013035]3623.Bateman, J. F.; Lamande, S. R.; Dahl, H.-H. M.; Chan, D.; Mascara, T.; Cole, W. G.: A frameshift mutation results in a truncated nonfunctional carboxyl-terminal pro-alpha-1(I) propeptide of type I collagen in osteogenesis imperfecta. J. Biol. Chem. 264: 10960-10964, 1989.
[0013036]3624.Bateman, J. F.; Mascara, T.; Chan, D.; Cole, W. G.: A structural mutation of the collagen alpha-1(I)CB7 peptide in lethal perinatal osteogenesis imperfecta. J. Biol. Chem. 262: 4445-4451, 1987.
[0013037]3625.Boedtker, H.; Fuller, F.; Tate, V.: The structure of collagen genes. Int. Rev. Connect. Tissue Res. 10: 1-63, 1983.
[0013038]3626.Bonadio, J.; Patterson, E.; Smiley, E.: DNA sequence analysis of perinatal lethal OI mutations.(Abstract) Collagen Rel. Res. 8: 506A, 1988.
[0013039]3627.Bonaventure, J.; Cohen-Solal, L.; Lasselin, C.; Maroteaux, P. : A dominant mutation in the COL1A1 gene that substitutes glycine for valine causes recurrent lethal osteogenesis imperfecta. Hum. Genet. 89: 640-646, 1992.
[0013040]3628.Brookes, A. J.; Sykes, B.; Solomon, E.: Single base pair alterations as the predominant category of mutation in type I osteogenesis imperfecta.(Letter) J. Med. Genet. 26: 410, 1989.
[0013041]3629.Byers, P. H.: Personal Communication. Seattle, Wash. 9/23/1993.
[0013042]3630.Byers, P. H.: Personal Communication. Seattle, Wash. 1990.
[0013043]3631.Byers, P. H.; Starman, B. J.; Cohn, D. H.; Horwitz, A. L.: A novel mutation causes a perinatal lethal form of osteogenesis imperfecta: an insertion in one alpha-1(I) collagen allele (COL1A1). J. Biol. Chem. 263: 7855-7861, 1988.
[0013044]3632.Byers, P. H.; Duvic, M.; Atkinson, M.; Robinow, M.; Smith, L. T.; Krane, S. M.; Greally, M. T.; Ludman, M.; Matalon, R.; Pauker, S.; Quanbeck, D.; Schwarze, U.: Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen. Am. J. Med. Genet. 72: 94-105, 1997.
[0013045]3633.Byrne, D. E. S.; Church, R. L.: Assignment of the genes for mouse type I procollagen to chromosome 16 using mouse fibroblast-Chinese hamster somatic cell hybrids. Somat. Cell Genet. 9: 313-331, 1983.
[0013046]3634.Chu, M.-L.; de Wet, W.; Bernard, M.; Ramirez, F.: Fine structural analysis of the human pro-alpha-1(I) collagen gene: promoter structure, AluI repeats, and polymorphic transcripts. J. Biol. Chem. 260: 2315-2320, 1985.
[0013047]3635.Church, R. L.; SundarRaj, N.; Rohrbach, D. H.: Gene mapping of human ocular connective tissue proteins: assignment of the structural gene for corneal type I procollagen to human chromosome 7 in human corneal stroma-mouse fibroblast somatic cell hybrids. Invest. Ophthal. 21: 73-79, 1981.
[0013048]3636.Cohn, D. H.; Apone, S.; Eyre, D. R.; Starman, B. J.; Andreassen, P.; Charbonneau, H.; Nicholls, A. C.; Pope, F. M.; Byers, P. H.: Substitution of cysteine for glycine within the carboxyl-terminal telopeptide of the alpha-1 chain of type I collagen produces mild osteogenesis imperfecta. J. Biol. Chem. 263: 14605-14607, 1988.
[0013049]3637.Cohn, D. H.; Zhang, X.; Byers, P. H.: Homology-mediated recombination between type I collagen gene exons results in an internal tandem duplication and lethal osteogenesis imperfecta. Hum. Mutat. 2: 21-27, 1993.
[0013050]3638.Cole, W. G.; Campbell, P. E.; Rogers, J. G.; Bateman, J. F.: The clinical features of osteogenesis imperfecta resulting from a non-functional carboxy terminal pro-alpha-1(I) propeptide of type I procollagen and a severe deficiency of normal type I collagen in tissues. J. Med. Genet. 27: 545-551, 1990.
[0013051]3639.Cole, W. G.; Chow, C. W.; Bateman, J. F.; Sillence, D. O.: The phenotypic features of osteogenesis imperfecta resulting from a mutation of the carboxyl-terminal pro-alpha-1(I) propeptide that impairs the assembly of type I procollagen and formation of the extracellular matrix. J. Med. Genet. 33: 965-967, 1996.
[0013052]3640.Cole, W. G.; Chow, C. W.; Rogers, J. G.; Bateman, J. F.: The clinical features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by arginine in the pro alpha-1(I) chain of type I procollagen. J. Med. Genet. 27: 228-235, 1990.
[0013053]3641.Cole, W. G.; Evans, R.; Sillence, D. O.: The clinical features of Ehlers-Danlos syndrome type VII due to a deletion of 24 amino acids from the pro-alpha-1(I) chain of type I procollagen. J. Med. Genet. 24: 698-701, 1987.
[0013054]3642.Cole, W. G.; Patterson, E.; Bonadio, J.; Campbell, P. E.; Fortune, D. W.: The clinicopathological features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by valine in the pro alpha-1(I) chain of type I procollagen. J. Med. Genet. 29: 112-118, 1992.
[0013055]3643.Constantinou, C. D.; Pack, M.; Young, S. B.; Prockop, D. J.: Phenotypic heterogeneity in osteogenesis imperfecta: the mildly affected mother of a proband with a lethal variant had the same mutation substituting cysteine for alpha-1-glycine 904 in a type I procollagen gene (COL1A1). Am. J. Hum. Genet. 47: 670-679, 1990.
[0013056]3644.D'Alessio, M.; Ramirez, F.; Blumberg, B. D.; Wirtz, M. K.; Rao, V. H.; Godfrey, M. D.; Hollister, D. W.: Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneity. Am. J. Hum. Genet. 49: 400-406, 1991.
[0013057]3645.Stoffel, M.; Patel, P.; Lo, Y.-M. D.; Hattersley, A. T.; Lucassen, A. M.; Page, R.; Bell, J. I.; Bell, G. I.; Turner, R. C.; Wainscoat, J. S.: Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes. Nature Genet. 2: 153-156, 1992.
[0013058]3646.Stone, L. M.; Kahn, S. E.; Fujimoto, W. Y.; Deeb, S. S.; Porte, D. Jr.: A variation at position -30 of the beta-cell glucokinase gene promoter is associated with reduced beta-cell function in middle-aged Japanese-American men. Diabetes 45: 422-428, 1996.
[0013059]3647.Sun, F.; Knebelmann, B.; Pueyo, M. E.; Zouali, H.; Lesage, S.; Vaxillaire, M.; Passa, P.; Cohen, D.; Velho, G.; Antignac, C.; Froguel, P.: Deletion of the donor splice site of intron 4 in the glucokinase gene causes maturity-onset diabetes of the young. J. Clin. Invest. 92: 1174-1180, 1993.
[0013060]3648.Thornton, P. S.; Satin-Smith, M. S.; Herold, K.; Glaser, B.; Chiu, K. C.; Nestorowicz, A.; Permutt, M. A.; Baker, L.; Stanley, C. A. : Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant. J. Pediat. 132: 9-14, 1998.
[0013061]3649.Velho, G.; Blanche, H.; Vaxillaire, M.; Bellane-Chantelot, C.; Pardini, V. C.; Timsit, J.; Passa, P.; Deschamps, I.; Robert, J.-J.; Weber, I. T.; Marotta, D.; Pilkis, S. J.; Lipkind, G. M.; Bell, G. I.; Froguel, P.: Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families. Diabetologia 40: 217-224, 1997.
[0013062]3650.Velho, G.; Froguel, P.; Clement, K.; Pueyo, M. E.; Rakotoambinina, B.; Zouali, H.; Passa, P.; Cohen, D.; Robert, J.-J.: Primary pancreatic beta-cell secretory defect caused by mutations in glucokinase gene in kindreds of maturity onset diabetes of the young. Lancet 340: 444-448, 1992.
[0013063]3651.Velho, G.; Petersen, K. F.; Perseghin, G.; Hwang, J.-H.; Rothman, D. L.; Pueyo, M. E.; Cline, G. W.; Froguel, P.; Shulman, G. I.: Impaired hepatic glycogen synthesis in glucokinase-deficient (MODY-2) subjects. J. Clin. Invest. 98: 1755-1761, 1996.
[0013064]3652.Hendershot, L. M.; Valentine, V. A.; Lee, A. S.; Morris, S. W.; Shapiro, D. N.: Localization of the gene encoding human BiP/GRP78, the endoplasmic reticulum cognate of the HSP70 family, to chromosome 9q34. Genomics 20: 281-284, 1994.
[0013065]3653.Law, M. L.; Seeliger, M. B.; Lee, A. S.; Kao, F. T.: Genetic mapping of the structural gene coding for a glucose-regulated protein (GRP78) of 78k-dalton to the long arm of human chromosome 9. (Abstract) Cytogenet. Cell Genet. 37: 518-519, 1984.
[0013066]3654.Lee, A. S.; Delegeane, A.; Scharff, D.: Highly conserved glucose-regulated protein in hamster and chicken cells: preliminary characterization of its cDNA clone. Proc. Nat. Acad. Sci. 78: 4922-4925, 1981.
[0013067]3655.Lee, A. S.; Delegeane, A. M.; Baker, V.; Chow, P. C.: Transcriptional regulation of two genes specifically induced by glucose starvation in hamster mutant fibroblast cell line. J. Biol. Chem. 258: 597-603, 1983.
[0013068]3656.Muresan, Z.; Arvan, P.: Enhanced binding to the molecular chaperone BiP slows thyroglobulin export from the endoplasmic reticulum. Molec. Endocr. 12: 458-467, 1998.
[0013069]3657.Anagnou, N. P.; Seuanez, H.; Modi, W.; O'Brien, S. J.; Papmatheakis, J.; Moschonas, N.: Chromosomal mapping of the human glutamate dehydrogenase (GLUD) genes to chromosomes 10q21.1-21.2 and Xq26-28. (Abstract) Am. J. Hum. Genet. 45 (suppl.): A170 only, 1989.
[0013070]3658.Barbeau, A.; Charbonneau, M.; Cloutier, T.: Leucocyte glutamate dehydrogenase in various hereditary ataxias. Canad. J. Neurol. Sci. 7: 421-424, 1980.
[0013071]3659.Colon, A. D.; Plaitakis, A.; Perakis, A.; Berl, S.; Clarke, D. D.: Purification and characterization of a soluble and a particulate glutamate dehydrogenase from rat brain. J. Neurochem. 46: 1811-1819, 1986.
[0013072]3660.Deloukas, P.; Dauwerse, J. G.; Moschonas, N. K.; van Ommen, G. J. B.; van Loon, A. P. G. M.: Three human glutamate dehydrogenase genes (GLUD1, GLUDP2, and GLUDP3) are located on chromosome 10q, but are not closely physically linked. Genomics 17: 676-681, 1993.
[0013073]3661.Duvoisin, R. C.; Chokroverty, S.; Lepore, F.; Nicklas, W. J.: Glutamate dehydrogenase deficiency in patients with olivopontocerebellar atrophy. Neurology 33: 1322-1326, 1983.
[0013074]3662.Hanauer, A.; Mandel, J. L.; Mattei, M. G.: X-linked and autosomal sequences corresponding to glutamate dehydrogenase (GLUD) and to an anonymous cDNA. (Abstract) Cytogenet. Cell Genet. 40: 647-648, 1985.
[0013075]3663.Dalgleish, R.: The human type I collagen mutation database. Nucleic Acids Res. 25: 181-187, 1997.
[0013076]3664.Dolphin, C.; Shephard, E. A.; Povey, S.; Palmer, C. N. A.; Ziegler, D. M.; Ayesh, R.; Smith, R. L.; Phillips, I. R.: Cloning, primary sequence, and chromosomal mapping of a human flavincontaining monooxygenase (FMO1). J. Biol. Chem. 266: 12379-12385, 1991.
[0013077]3665.Shephard, E. A.; Dolphin, C.; Povey, S.; Smith, R.; Phillips, I. : The genes encoding the flavin-containing monooxygenases FMO1 and FMO2 are located on human chromosome 1q. (Abstract) Cytogenet. Cell Genet. 58: 1863 only, 1991.
[0013078]3666.Shephard, E. A.; Dolphin, C. T.; Fox, M. F.; Povey, S.; Smith, R.; Phillips, I. R.: Localization of genes encoding three distinct flavin-containing monooxygenases to human chromosome 1q. Genomics 16: 85-89, 1993.
[0013079]3667.Ziegler, D. M.: Flavin-containing monooxygenases: enzymes adapted for multisubstrate specificity. Trends Pharm. Sci. 11: 321-324, 1990.
[0013080]3668.McCombie, R. R.; Dolphin, C. T.; Povey, S.; Phillips, I. R.; Shephard, E. A.: Localization of human flavin-containing monooxygenase genes FMO2 and FMO5 to chromosome 1q. Genomics 34: 426-429, 1996.
[0013081]3669.Barnes, D. E.; Johnston, L. H.; Kodama, K.; Tomkinson, A. E.; Lasko, D. D.; Lindahl, T.: Human DNA ligase I cDNA: cloning and functional expression in Saccharomyces cerevisiae. Proc. Nat. Acad. Sci. 87: 6679-6683, 1990.
[0013082]3670.Barnes, D. E.; Kodama, K.-I.; Tynan, K.; Trask, B. J.; Christensen, M.; de Jong, P. J.; Spurr, N. K.; Lindahl, T.; Mohrenweiser, H. W. : Assignment of the gene-encoding DNA ligase I to human chromosome 19q13.2-13.3. Genomics 12: 164-166, 1992.
[0013083]3671.Barnes, D. E.; Tomkinson, A. E.; Lehmann, A. R.; Webster, A. D. B.; Lindahl, T.: Mutations in the DNA ligase I gene of an individual with immunodeficiencies and cellular hypersensitivity to DNA-damaging agents. Cell 69: 495-503, 1992.
[0013084]3672.Bentley, D. J.; Selfridge, J.; Millar, J. K.; Samuel, K.; Hole, N.; Ansell, J. D.; Melton, D. W.: DNA ligase I is required for fetal liver erythropoiesis but is not essential for mammalian cell viability. Nature Genet. 13: 489-491, 1996.
[0013085]3673.Gariboldi, M.; Montecucco, A.; Columbano, A.; Ledda-Columbano, G. M.; Savini, E.; Manenti, G.; Pierotti, M. A.; Dragani, T. A.: Genetic mapping and expression analysis of the murine DNA ligase gene. Molec. Carcinog. 14: 71-74, 1995.
[0013086]3674.Lindahl, T.; Barnes, D. E.: Mammalian DNA ligases. Annu. Rev. Biochem. 61: 251-281, 1992.
[0013087]3675.Noguiez, P.; Barnes, D. E.; Mohrenweiser, H. W.; Lindahl, T.: Structure of the human DNA ligase I gene. Nucleic Acids Res. 20: 3845-3850, 1992.
[0013088]3676.Souttou, B.; Juhl, H.; Hackenbruck, J.; Rockseisen, M.; Klomp, H. J.; Raulais, D.; Vigny, M.; Wellstein, A.: Relationship between serum concentrations of the growth factor pleiotrophin and pleiotrophin-positive tumors. J. Nat. Cancer Inst. 90: 1468-1473, 1998.
[0013089]3677.Weber, D.; Klomp, H.-J.; Czubayko, F.; Wellstein, A.; Juhl, H. : Pleiotrophin can be rate-limiting for pancreatic cancer cell growth. Cancer Res. 60: 5284-5288, 2000.
[0013090]3678.Zhang, N.; Yeh, H.-J.; Zhong, R.; Li, Y.-S.; Deuel, T. F.: A dominant-negative pleiotrophin mutant introduced by homologous recombination leads to germ-cell apoptosis in male mice. Proc. Nat. Acad. Sci. 96: 6734-6738, 1999.
[0013091]3679.Eddy, R. L.; Kretschmer, P. J.; Fairhurst, J. L.; Shows, T. B.; Bohlen, P.; O'Hara, B.; Kovesdi, I.: A human gene family of neurite outgrowth-promoting proteins: heparin-binding neurite outgrowth promoting factor maps to 11p11-11p13. (Abstract) Cytogenet. Cell Genet. 58: 1958 only, 1991.
[0013092]3680.Kaname, T.; Kuwano, A.; Murano, I.; Uehara, K.; Muramatsu, T.; Kajii, T.: Midkine gene (MDK), a gene for prenatal differentiation and neuroregulation, maps to band 11p11.2 by fluorescence in situ hybridization. Genomics 17: 514-515, 1993.
[0013093]3681.Simon-Chazottes, D.; Matsubara, S.; Miyauchi, T.; Muramatsu, T.; Guenet, J.-L.: Chromosomal localization of two cell surface-associated molecules of potential importance in development: midkine (Mdk) and basigin (Bsg). Mammalian Genome 2: 269-271, 1992.
[0013094]3682.Airaksinen, E. M.; Iivanainen, M.; Karli, P.; Sainio, K.; Haltia, M.: Hereditary recurrent brachial plexus neuropathy with dysmorphic features. Acta Neurol. Scand. 71: 309-316, 1985.
[0013095]3683.Chance, P. F.; Lensch, M. W.; Lipe, H.; Brown, R. H., Sr.; Brown, R. H., Jr.; Bird, T. D.: Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct genetic disorders. Neurology 44: 2253-2257, 1994.
[0013096]3684.Dreschfeld, J.: On some rarer forms of muscular atrophies. Brain 79: 226-232, 1886.
[0013097]3685.Gardner, J. H.; Maloney, W.: Hereditary brachial and cranial neuritis genetically linked with ocular hypotelorism and syndactyly. (Abstract) Neurology 18: 278, 1968.
[0013098]3686.Geiger, L. R.; Mancall, E. L.; Penn, A. S.; Tucker, S. H.: Familial neuralgic amyotrophy: report of three families with review of the literature. Brain 97: 87-102, 1974.
[0013099]3687.Gouider, R.; LeGuern, E.; Emile, J.; Tardieu, S.; Cabon, F.; Samid, M.; Weissenbach, J.; Agid, Y.; Bouche, P.; Brice, A.: Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct clinical, electrophysiologic, and genetic entities. Neurology 44: 2250-2252, 1994.
[0013100]3688.Guillozet, N.; Mercer, R. D.: Hereditary recurrent brachial neuropathy. Am. J. Dis. Child. 125: 884-887, 1973.
[0013101]3689.Jacob, J. C.; Andermann, F.; Robb, J. P.: Heredofamilial neuritis with brachial predilection. Neurology 11: 1025-1033, 1961.
[0013102]3690.Jeannet, P.-Y.; Watts, G. D. J.; Bird, T. D.; Chance, P. F.: Craniofacial and cutaneous findings expand the phenotype of hereditary neuralgic amyotrophy. Neurology 57: 1963-1968, 2001.
[0013103]3691.Matthews, W. B.; Esiri, M.: The migrant sensory neuritis of Wartenberg. J. Neurol. Neurosurg. Psychiat. 46: 1-4, 1983.
[0013104]3692.Meuleman, J.; Kuhlenbaumer, G.; Audenaert, D.; Hunermund, G.; Hor, H.; Young, P.; Stogbauer, F.; Ringelstein, E. B.; Van Broeckhoven, C.; De Jonghe, P.; Timmerman, V.: Mutation analysis of 4 candidate genes for hereditary neuralgic amyotrophy (HNA). Hum. Genet. 108: 390-393, 2001.
[0013105]3693.Meuleman, J.; Timmerman, V.; Van Broeckhoven, C.; De Jonghe, P. : Hereditary neuralgic amyotrophy. Neurogenetics 3: 115-118, 2001.
[0013106]3694.Orstavik, K.; Ro, H.; Orstavik, K. H.: Recurrent brachial plexus neuropathy in a family with subtle dysmorphic features--a case of hereditary neuralgic amyotrophy. Clin. Genet. 51: 421-425, 1997.
[0013107]3695.Pellegrino, J. E.; George, R. A. V.; Biegel, J.; Farlow, M. R.; Gardner, K.; Caress, J.; Brown, M. J.; Rebbeck, T. R.; Bird, T. D.; Chance, P. F.: Hereditary neuralgic amyotrophy: evidence for genetic homogeneity and mapping to chromosome 17q25. Hum. Genet. 101: 277-283, 1997.
[0013108]3696.Pellegrino, J. E.; Rebbeck, T. R.; Brown, M. J.; Bird, T. D.; Chance, P. F.: Mapping of hereditary neuralgic amyotrophy (familial brachial plexus neuropathy) to distal chromosome 17q. Neurology 46: 1128-1132, 1996.
[0013109]3697.Phillips, L. H., II: Familial long thoracic nerve palsy: a manifestation of brachial plexus neuropathy. Neurology 36: 1251-1253, 1986.
[0013110]3698.Smith, B. H.; Ramakrishna, T.; Schlagenhauff, R. R.: Familial brachial neuropathy: two case reports with discussion. Neurology 21: 941-945, 1971.
[0013111]3699.Stogbauer, F.; Young, P.; Timmerman, V.; Spoelders, P.; Bernd Ringelstein, E.; Van Broeckhoven, C.; Kurlemann, G.: Refinement of the hereditary neuralgic amyotrophy (HNA) locus to chromosome 17q24-q25. Hum. Genet. 99: 685-687, 1997.
[0013112]3700.Taylor, R. A.: Heredofamilial mononeuritis multiplex with brachial predilection. Brain 83: 113-137, 1960.
[0013113]3701.Thomas, P. K.; Ormerod, I. E. C.: Hereditary neuralgic amyotrophy associated with a relapsing multifocal sensory neuropathy. J. Neurol. Neurosurg. Psychiat. 56: 107-109, 1993.
[0013114]3702.Tsairis, P.; Dyck, P. J.; Mulder, D. W.: Natural history of brachial plexus neuropathy. Arch. Neurol. 27: 109-117, 1972.
[0013115]3703.Watts, G. D. J.; O'Briant, K. C.; Chance, P. F.: Evidence of a founder effect and refinement of the hereditary neuralgic amyotrophy (HNA) locus on 17q25 in American families. Hum. Genet. 110: 166-172, 2002.
[0013116]3704.Windebank, A. J.: Inherited recurrent focal neuropathies.In: Dyck, P. J.; Thomas, P. K.; Griffin, J. W.; Low, P. A.; Poduslo, J. F. (eds.): Peripheral Neuropathy. Volume 2. Philadelphia: W. B. Saunders Company (3rd ed.): 1993. Pp. 1137-1148.
[0013117]3705.Windebank, A. J.; Schenone, A.; Dewald, G. W.: Hereditary neuropathy with liability to pressure palsies and inherited brachial plexus neuropathy: two genetically distinct disorders. Mayo Clin. Proc. 70: 743-746, 1995.
[0013118]3706.Cool, D. R.; Normant, E.; Shen, F.; Chen, H.-C.; Pannell, L.; Zhang, Y.; Loh, Y. P.: Carboxypeptidase E is a regulated secretory pathway sorting receptor: genetic obliteration leads to endocrine disorders in Cpe(fat) mice. Cell 88: 73-83, 1997.
[0013119]3707.Beg, A. A.; Sha, W. C.; Bronson, R. T.; Ghosh, S.; Baltimore, D. : Embryonic lethality and liver degeneration in mice lacking the RelA component of NF-kappa B. Nature 376: 167-170, 1995.
[0013120]3708.Chen, L.; Fischle, W.; Verdin, E.; Greene, W. C.: Duration of nuclear NF-kappa-B action regulated by reversible acetylation. Science 293: 1653-1657, 2001.
[0013121]3709.Deloukas, P.; Dauwerse, J. G.; van Ommen, G. J. B.; van Loon, A. P. G. M.: The human NFKB3 gene encoding the p65 subunit of transcription factor NF-kappa-B is located on chromosome 11q12. Genomics 19: 592-594, 1994.
[0013122]3710.Deloukas, P.; van Loon, A. P. G. M.: Genomic organization of the gene encoding the p65 subunit of NF-kappa-B: multiple variants of the p65 protein may be generated by alternative splicing. Hum. Molec. Genet. 2: 1895-1900, 1993.
[0013123]3711.Neurath, M. F.; Pettersson, S.; Myer zum Buschenfelde, K.-H.; Strober, W.: Local administration of antisense phosphorothioate oligonucleotides to the p65 subunit of NF-kappa-B abrogates established experimental colitis in mice. Nature Med. 2: 998-1004, 1996.
[0013124]3712.Zhong, H.; Voll, R. E.; Ghosh, S.: Phosphorylation of NF-kappa B by PKA stimulates transcriptional activity by promoting a novel bivalent interaction with the coactivator CBP/p300. Molec. Cell 1: 661-671, 1998.
[0013125]3713.Biamonti, G.; Buvoli, M.; Bassi, M. T.; Morandi, C.; Cobianchi, F.; Riva, S.: Isolation of an active gene encoding human hnRNP protein A1: evidence for alternative splicing. J. Molec. Biol. 207: 491-503, 1989.
[0013126]3714.Buvoli, M.; Biamonti, G.; Tsoulfas, P.; Bassi, M. T.; Ghetti, A.; Riva, S.; Morandi, C.: cDNA cloning of human hnRNP protein A1 reveals the existence of multiple mRNA isoforms. Nucleic Acids Res. 16: 3751-3770, 1988.
[0013127]3715.Michael, W. M.; Choi, M.; Dreyfuss, G.: A nuclear export signal in hnRNP A1: a signalmediated, temperature-dependent nuclear protein export pathway. Cell 83: 415-422, 1995.
[0013128]3716.Saccone, S.; Biamonti, G.; Maugeri, S.; Bassi, M. T.; Bunone, G.; Riva, S.; Della Valle, G.: Assignment of the human heterogeneous nuclear ribonucleoprotein A1 gene (HNRPA1) to chromosome 12q13.1 by cDNA competitive in situ hybridization. Genomics 12: 171-174, 1992.
[0013129]3717.Pollard, A. J.; Sparey, C.; Robson, S. C.; Krainer, A. R.; Europe-Finner, G. N.: Spatiotemporal expression of the trans-acting splicing factors SF2/ASF and heterogeneous ribonuclear proteins A1/A1B in the myometrium of the pregnant human uterus: a molecular mechanism for regulating regional protein isoform expression in vivo. J. Clin. Endocr. Metab. 85: 1928-1936, 2000.
[0013130]3718.Turc-Carel, C.; Pietrzak, E.; Kakati, S.; Kinniburgh, A. J.; Sandberg, A. A.: INT1 maps to 12q12-12q13. (Abstract) Cytogenet. Cell Genet. 46: 706 only, 1987.
[0013131]3719.van't Veer, L. J.; Geurts van Kessel, A. H. M.; van Heerikhuizen, H.; van Ooyen, A.; Nusse, R.: Molecular cloning and chromosomal assignment of the human homolog of int-1, a mouse gene implicated in mammary tumorigenesis. Molec. Cell. Biol. 4: 2532-2534, 1984.
[0013132]3720.van Ooyen, A.; Kwee, V.; Nusse, R.: The nucleotide sequence of the human int-1 mammary oncogene; evolutionary conservation of coding and non-coding sequences. EMBO J. 4: 2905-2909, 1985.
[0013133]3721.Wolda, S. L.; Moon, R. T.: Cloning and developmental expression in Xenopus laevis of seven additional members of the Wnt family. Oncogene 7: 1941-1947, 1992.
[0013134]3722.Armstrong, B. C.; Krystal, G. W.: Isolation and characterization of complementary DNA for N-cym, a gene encoded by the DNA strand opposite to N-myc. Cell Growth Differ. 3: 385-390, 1992.
[0013135]3723.Brodeur, G. M.; Seeger, R. C.: Gene amplification in human neuroblastomas: basic mechanisms and clinical implications. Cancer Genet. Cytogenet. 19: 101-111, 1986.
[0013136]3724.Brodeur, G. M.; Seeger, R. C.; Schwab, M.; Varmus, H. E.; Bishop, J. M.: Amplification of N-myc in untreated human neuroblastomas correlates with advanced disease stage. Science 224: 1121-1124, 1984.
[0013137]3725.Campbell, G. R.; Zimmerman, K.; Blank, R. D.; Alt, F. W.; D'Eustachio, P.: Chromosomal location of N-myc and L-myc genes in the mouse. Oncogene Res. 4: 47-54, 1989.
[0013138]3726.Corvi, R.; Amler, L. C.; Savelyeva, L.; Gehring, M.; Schwab, M. : MYCN is retained in single copy at chromosome 2 band p23-24 during amplification in human neuroblastoma cells. Proc. Nat. Acad. Sci. 91: 5523-5527, 1994.
[0013139]3727.Emanuel, B. S.; Balaban, G.; Boyd, J. P.; Grossman, A.; Negishi, M.; Parmiter, A.; Glick, M. C.: N-myc amplification in multiple homogeneously staining regions in two human neuroblastomas. Proc. Nat. Acad. Sci. 82: 3736-3740, 1985.
[0013140]3728.Garson, J. A.; van den Berghe, J. A.; Kemshead, J. T.: Novel non-isotopic in situ hybridization technique detects small (1 kb) unique sequences in routinely G-banded human chromosomes: fine mapping of N-myc and beta-NGF genes. Nucleic Acids Res. 15: 4761-4770, 1987.
[0013141]3729.Guo, C.; White, P. S.; Weiss, M. J.; Hogarty, M. D.; Thompson, P. M.; Stram, D. O.; Gerbing, R.; Matthay, K. K.; Seeger, R. C.; Brodeur, G. M.; Maris, J. M.: Allelic deletion at 11q23 is common in MYCN single copy neuroblastomas. Oncogene 18: 4948-4957, 1999.
[0013142]3730.Kanda, N.; Schreck, R.; Alt, F.; Bruns, G.; Baltimore, D.; Latt, S.: Isolation of amplified DNA sequences from IMR-32 human neuroblastoma cells: facilitation by fluorescence-activated flow sorting of metaphase chromosomes. Proc. Nat. Acad. Sci. 80: 4069-4073, 1983.
[0013143]3731.Kohl, N. E.; Gee, C. E.; Alt, F. W.: Activated expression of the N-myc gene in human neuroblastomas and related tumors. Science 226: 1335-1337, 1984.
[0013144]3732.Kohl, N. E.; Kanda, N.; Schreck, R. R.; Bruns, G.; Latt, S. A.; Gilbert, F.; Alt, F. W.: Transposition and amplification of oncogene-related sequences in human neuroblastomas. Cell 35: 359-367, 1983.
[0013145]3733.Kohl, N. E.; Legouy, E.; DePinho, R. A.; Nisen, P. D.; Smith, R. K.; Gee, C. E.; Alt, F. W.: Human N-myc is closely related in organization and nucleotide sequence to c-myc. Nature 319: 73-77, 1986.
[0013146]3734.Lee, W.-H.; Murphree, A. L.; Benedict, W. F.: Expression and amplification of the Nmyc gene in primary retinoblastoma. Nature 309: 458-460, 1984.
[0013147]3735.Michitsch, R. W.; Melera, P. W.: Nucleotide sequence of the 3-prime exon of the human N-myc gene. Nucleic Acids Res. 13: 2545-2558, 1985.
[0013148]3736.Ramsay, G.; Stanton, L.; Schwab, M.; Bishop, J. M.: Human proto-oncogene N-myc encodes nuclear proteins that bind DNA. Molec. Cell. Biol. 6: 4450-4457, 1986.
[0013149]3737.Reiter, J. L.; Brodeur, G. M.: High-resolution mapping of a 130-kb core region of the MYCN amplicon in neuroblastomas. Genomics 32: 97-103, 1996.
[0013150]3738.Schwab, M.: Amplification of N-myc in human neuroblastomas. Trends Genet. 1: 271-275, 1985.
[0013151]3739.Schwab, M.; Alitalo, K.; Klempnauer, K.-H.; Varmus, H. E.; Bishop, J. M.; Gilbert, F.; Brodeur, G.; Goldstein, M.; Trent, J.: Amplified DNA with limited homology to myc cellular oncogene is shared by human neuroblastoma cell lines and a neuroblastoma tumour. Nature 305: 245-248, 1983.
[0013152]3740.Schwab, M.; Ellison, J.; Busch, M.; Rosenau, W.; Varmus, H. E.; Bishop, J. M.: Enhanced expression of the human gene N-myc consequent to amplification of DNA may contribute to malignant progression of neuroblastoma. Proc. Nat. Acad. Sci. 81: 4940-4944, 1984.
[0013153]3741.Schwab, M.; Varmus, H. E.; Bishop, J. M.; Grzeschik, K.-H.; Naylor, S. L.; Sakaguchi, A. Y.; Brodeur, G.; Trent, J.: Chromosome localization in normal human cells and neuroblastomas of a gene related to c-myc. Nature 308: 288-291, 1984.
[0013154]3742.Seeger, R. C.; Brodeur, G. M.; Sather, H.; Dalton, A.; Siegel, S. E.; Wong, K. Y.; Hammond, D.: Association of multiple copies of the N-myc oncogene with rapid progression of neuroblastomas. New Eng. J. Med. 313: 1111-1116, 1985.
[0013155]3743.Shiloh, Y.; Shipley, J.; Brodeur, G. M.; Bruns, G.; Korf, B.; Donlon, T.; Schreck, R. R.; Seeger, R.; Sakai, K.; Latt, S. A.: Differential amplification, assembly, and relocation of multiple DNA sequences in human neuroblastomas and neuroblastoma cell lines. Proc. Nat. Acad. Sci. 82: 3761-3765, 1985.
[0013156]3744.Grant, S. F. A.; Reid, D. M.; Blake, G.; Herd, R.; Fogelman, I.; Ralston, S. H.: Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I-alpha 1 gene. Nature Genet. 14: 203-205, 1996.
[0013157]3745.Pocock, N. A.; Eisman, J. A.; Hopper, J. L.; Yeates, M. G.; Sambrook, P. N.; Eberl, S.: Genetic determinants of bone mass in adults: a twin study. J. Clin. Invest. 80: 706-710, 1987.
[0013158]3746.Lusis, A. J.; Heinzmann, C.; Sparkes, R. S.; Scott, J.; Knott, T. J.; Geller, R.; Sparkes, M. C.; Mohandas, T.: Regional mapping of human chromosome 19: organization of genes for plasma lipid transport (APOC1, -C2, and -E and LDLR) and the genes C3, PEPD, and GPI. Proc. Nat. Acad. Sci. 83: 3929-3933, 1986.
[0013159]3747.Martiniuk, F.; Ellenbogen, A.; Hirschhorn, K.; Hirschhorn, R. : Further regional localization of the genes for human acid alpha glucosidase (GAA), peptidase D (PEPD), and alpha mannosidase B (MANB) by somatic cell hybridization. Hum. Genet. 69: 109-111, 1985.
[0013160]3748.Siciliano, M. J.; Stallings, R. L.; Adair, G. M.; Humphrey, R. M.; Siciliano, J.: Provisional assignment of TPI, GPI, and PEPD to Chinese hamster autosomes 8 and 9: a cytogenetic basis for functional haploidy of an autosomal linkage group in CHO cells. Cytogenet. Cell Genet. 35: 15-20, 1983.
[0013161]3749.Taketo, M.; Matsui, M.; Rochelle, J. M.; Yodoi, J.; Seldin, M. F.: Mouse thioredoxin gene maps on chromosome 4, whereas its pseudogene maps on chromosome 1. Genomics 21: 251-253, 1994.
[0013162]3750.Tonissen, K. F.; Wells, J. R. E.: Isolation and characterization of human thioredoxinencoding genes. Gene 102: 221-228, 1991.
[0013163]3751.Wollman, E. E.; d'Auriol, L.; Rimsky, L.; Shaw, A.; Jacquot, J.-P.; Wingfield, P.; Graber, P.; Dessarps, F.; Robin, P.; Galibert, F.; Bertoglio, J.; Fradelizi, D.: Cloning and expression of a cDNA for human thioredoxin. J. Biol. Chem. 263: 15506-15512, 1988.
[0013164]3752.Caen, J. P.; Castaldi, P. A.; Leclerc, J. C.; Inceman, S.; Larrieu, M. J.; Probst, M.; Bernard, J.: Congenital bleeding disorders with long bleeding time and normal platelet count. I. Glanzmann's thrombasthenia (report of fifteen patients). Am. J. Med. 41: 4-26, 1966.
[0013165]3753.Ruggeri, Z. M.; Bader, R.; de Marco, L.: Glanzmann thrombasthenia: deficient binding of von Willebrand factor to thrombin-stimulated platelets. Proc. Nat. Acad. Sci. 79: 6038-6041, 1982.
[0013166]3754.Bahou, W. F.; Nierman, W. C.; Durkin, A. S.; Potter, C. L.; Demetrick, D. J.: Chromosomal assignment of the human thrombin receptor gene: localization to region q13 of chromosome 5. Blood 82: 1532-1537, 1993.
[0013167]3755.Coughlin, S. R.; Vu, T.-K. H.; Hung, D. T.; Wheaton, V. I.: Characterization of a functional thrombin receptor: issues and opportunities. J. Clin. Invest. 89: 351-355, 1992.
[0013168]3756.Griffin, C. T.; Srinivasan, Y.; Zheng, Y.-W.; Huang, W.; Coughlin, S. R.: A role for thrombin receptor signaling in endothelial cells during embryonic development. Science 293: 1666-1670, 2001.
[0013169]3757.Poirier, C.; O'Brien, E. P.; Bueno Brunialti, A. L.; Chambard, J.-C.; Swank, R. T.; Guenet, J.-L.: The gene encoding the thrombin receptor (Cf2r) maps to mouse chromosome 13. Mammalian Genome 7: 322, 1996.
[0013170]3758.Schmidt, V. A.; Nierman, W. C.; Feldblyum, T. V.; Maglott, D. R.; Bahou, W. F.: The human thrombin receptor and proteinase activated receptor-2 genes are tightly linked on chromosome 5q13. Brit. J. Haemat. 97: 523-529, 1997.
[0013171]3759.Schmidt, V. A.; Vitale, E.; Bahou, W. F.: Genomic cloning and characterization of the human thrombin receptor gene: structural similarity to the proteinase activated receptor-2 gene. J. Biol. Chem. 271: 9307-9312, 1996.
[0013172]3760.Vu, T.-K. H.; Hung, D. T.; Wheaton, V. I.; Coughlin, S. R.: Molecular cloning of a functional thrombin receptor reveals a novel proteolytic mechanism of receptor activation. Cell 64: 1057-1068, 1991.
[0013173]3761.Dean, G.: The Porphyrias. A Story of Inheritance and Environment. Philadelphia: J. B. Lippincott (pub.) (2nd ed.): 1972.
[0013174]3762.Hukshorn, C. J.; Saris, W. H. M.; Westerterp-Plantenga, M. S.; Farid, A. R.; Smith, F. J.; Campfield, L. A.: Weekly subcutaneous pegylated recombinant native human leptin (PEG-OB) administration in obese men. J. Clin. Endocr. Metab. 85: 4003-4009, 2000.
[0013175]3763.Vafiadis, P.; Ounissi-Benkalha, H.; Palumbo, M.; Grabs, R.; Rousseau, M.; Goodyer, C. G.; Polychronakos, C.: Class III alleles of the variable number of tandem repeat insulin polymorphism associated with silencing of thymic insulin predispose to type 1 diabetes. J. Clin. Endocr. Metab. 86: 3705-3710, 2001.
[0013176]3764.Bennett, M. K.; Calakos, N.; Scheller, R. H.: Syntaxin: a synaptic protein implicated in docking of synaptic vesicles at presynaptic active zones. Science 257: 255-259, 1992.
[0013177]3765.Bennett, M. K.; Garcia-Arraras, J. E.; Elferink, L. A.; Peterson, K.; Fleming, A. M.; Hazuka, C. D.; Scheller, R. H.: The syntaxin family of vesicular transport receptors. Cell 74: 863-873, 1993.
[0013178]3766.Fernandez, I.; Ubach, J.; Dulubova, I.; Zhang, X.; Sudof, T. C.; Rizo, J.: Threedimensional structure of an evolutionarily conserved N-terminal domain of syntaxin 1A. Cell 94: 841-849, 1998.
[0013179]3767.Fisher, R. J.; Pevsner, J.; Burgoyne, R. D.: Control of fusion pore dynamics during exocytosis by Munc18. Science 291: 875-878, 2001.
[0013180]3768.Martin-Martin, B.; Nabokina, S. M.; Lazo, P. A.; Mollinedo, F. : Co-expression of several human syntaxin genes in neutrophils and differentiating HL-60 cells: various isoforms and detection of syntaxin 1. J. Leuko. Biol. 65: 397-406, 1999.
[0013181]3769.Nakayama, T.; Fujiwara, T.; Miyazawa, A.; Asakawa, S.; Shimizu, N.; Shimizu, Y.; Mikoshiba, K.; Akagawa, K.: Mapping of the human HPC-1/syntaxin 1A gene (STX1A) to chromosome 7 band q11.2. Genomics 42: 173-176, 1997.
[0013182]3770.Naren, A. P.; Di, A.; Cormet-Boyaka, E.; Boyaka, P. N.; McGhee, J. R.; Zhou, W.; Akagawa, K.; Fujiwara, T.; Thome, U.; Engelhardt, J. F.; Nelson, D. J.; Kirk, K. L.: Syntaxin 1A is expressed in airway epithelial cells, where it modulates CFTR C1- currents. J. Clin. Invest. 105: 377-386, 2000.
[0013183]3771.Richmond, J. E.; Weimer, R. M.; Jorgensen, E. M.: An open form of syntaxin bypasses the requirement for UNC-13 in vesicle priming. Nature 412: 338-341, 2001.
[0013184]3772.Zhang, R.; Maksymowych, A. B.; Simpson, L. L.: Cloning and sequence analysis of a cDNA encoding human syntaxin 1A, a polypeptide essential for exocytosis. Gene 159: 293-294, 1995.
[0013185]3773.Shepley, M. P.; Sherry, B.; Weiner, H. L.: Monoclonal antibody identification of a 100-kDa membrane protein in HeLa cells and human spinal cord involved in poliovirus attachment. Proc. Nat. Acad. Sci. 85: 7743-7747, 1988.
[0013186]3774.Siddique, T.; Bartlett, R. J.; McKinney, R.; Hung, W.-Y.; Bruns, G.; Wilfert, C.; Roses, A. D.: The poliovirus sensitivity (PVS) is on chromosome 19q13-qter. (Abstract) Cytogenet. Cell Genet. 40: 745 only, 1985.
[0013187]3775.Siddique, T.; McKinney, R.; Hung, W.-Y.; Bartlett, R. J.; Bruns, G.; Mohandas, T. K.; Ropers, H.-H.; Wilfert, C.; Roses, A. D.: The poliovirus sensitivity (PVS) gene is on chromosome 19q12-q13.2. Genomics 3: 156-160, 1988.
[0013188]3776.Solecki, D. J.; Gromeier, M.; Mueller, S.; Bernhardt, G.; Wimmer, E.: Expression of the human poliovirus receptor/CD155 gene is activated by Sonic hedgehog. J. Biol. Chem. 277: 25697-25702, 2002.
[0013189]3777.Morris, C. M.; Bodger, M. P.: Localization of the human poly(A)-binding protein gene (PAB1) to chromosomal regions 3q22-q25, 12q13-q14, and 13q12-q13 by in situ hybridization. Genomics 15: 209-211, 1993.
[0013190]3778.Alkhatib, H. M.; Chen, D.; Cherney, B.; Bhatia, K.; Notario, V.; Giri, C.; Stein, G.; Slattery, E.; Roeder, R. G.; Smulson, M. E.: Cloning and expression of cDNA for human poly(ADPribose) polymerase. Proc. Nat. Acad. Sci. 84: 1224-1228, 1987.
[0013191]3779.Auer, B.; Nagl, U.; Herzog, H.; Schneider, R.; Schweiger, M.: Human nuclear NAD+ ADP-ribosyltransferase(polymerizing): organization of the gene. DNA 8: 575-580, 1989.
[0013192]3780.Baumgartner, M.; Schneider, R.; Auer, B.; Herzog, H.; Schweiger, M.; Hirsch-Kauffmann, M.: Fluorescence in situ mapping of the human nuclear NAD+ ADP-ribosyltransferase gene (ADPRT) and two secondary sites to human chromosomal bands 1q42, 13q34, and 14q24. Cytogenet. Cell Genet. 61: 172-174, 1992.
[0013193]3781.Bhatia, K. G.; Cherney, B. W.; Huppi, K.; Magrath, I. T.; Cossman, J.; Sausville, E.; Barriga, F.; Johnson, B.; Gause, B.; Bonney, G.; Neequayi, J.; DeBernardi, M.; Smulson, M.: A deletion linked to a poly(ADP-ribose) polymerase gene on chromosome 3q33-qter occurs frequently in the normal black population as well as in multiple tumor DNA. Cancer Res. 50: 5406-5413, 1990.
[0013194]3782.Cherney, B. W.; McBride, O. W.; Chen, D.; Alkhatib, H.; Bhatia, K.; Hensley, P.; Smulson, M. E.: cDNA sequence, protein structure, and chromosomal location of the human gene for poly(ADP-ribose) polymerase. Proc. Nat. Acad. Sci. 84: 8370-8374, 1987.
[0013195]3783.d'Adda di Fagagna, F.; Hande, M. P.; Tong, W.-M.; Lansdorp, P. M.; Wang, Z.-Q.; Jackson, S. P.: Functions of poly(ADP-ribose) polymerase in controlling telomere length and chromosomal stability. Nature Genet. 23: 76-80, 1999.
[0013196]3784.Doll, J. A.; Suarez, B. K.; Donis-Keller, H.: Association between prostate cancer in black Americans and an allele of the PADPRP pseudogene locus on chromosome 13. (Letter) Am. J. Hum. Genet. 58: 425-428, 1996.
[0013197]3785.Flick, K.; Schneider, R.; Auer, B.; Hirsch-Kauffmann, M.; Schweiger, M.: No abnormalities in the NAD(+) ADP-ribosyltransferase (polymerizing) gene of transformed cells from a Fanconi's anemia patient. (Letter) Hum. Genet. 89: 690-691, 1992.
[0013198]3786.Grube, K.; Burkle, A.: Poly(ADP-ribose) polymerase activity in mononuclear leukocytes of 13 mammalian species correlates with species-specific life span. Proc. Nat. Acad. Sci. 89: 11759-11763, 1992.
[0013199]3787.Herzog, H.; Zabel, B.; Schneider, R.; Auer, B.; Hirsch-Kauffmann, M.; Schweiger, M.: Human NAD(+):protein ADP ribosyltransferase (ADPRT): synthesis of active enzyme in E. coli, sequence of its cDNA from Hela cells and chromosomal localization. Biol. Chem. Hoppe-Seyler 369: 836-837, 1988.
[0013200]3788.Herzog, H.; Zabel, B. U.; Schneider, R.; Auer, B.; Hirsch-Kauffmann, M.; Schweiger, M.: Human nuclear NAD(+) ADP-ribosyltransferase: localization of the gene on chromosome 1q41-q42 and expression of an active human enzyme in Escherichia coli. Proc. Nat. Acad. Sci. 86: 3514-3518, 1989.
[0013201]3789.Keijzer, W.; Stefanini, M.; Bootsma, D.; Verkerk, A.; Geurts van Kessel, A. H. M.; Jongkind, J. F.; Westerveld, A.: Localization of a gene involved in complementation of the defect in xeroderma pigmentosum group A cells on human chromosome 1. Exp. Cell Res. 169: 490-501, 1987.
[0013202]3790.Kurosaki, T.; Ushiro, H.; Mitsuuchi, Y.; Suzuki, S.; Matsuda, M.; Matsuda, Y.; Katunuma, N.; Kangawa, K.; Matsuo, H.; Hirose, T.; Inayama, S.; Shizuta, Y.: Primary structure of human poly(ADP-ribose) synthetase as deduced from cDNA sequence. J. Biol. Chem. 262: 15990-15997, 1987.
[0013203]3791.Loetscher, P.; Alvarez-Gonzalez, R.; Althaus, F. R.: Poly(ADP-ribose) may signal changing metabolic conditions to the chromatin of mammalian cells. Proc. Nat. Acad. Sci. 84: 1286-1289, 1987.
[0013204]3792.Lyn, D.; Cherney, B. W.; Lalande, M.; Berenson, J. R.; Lichtenstein, A.; Lupold, S.; Bhatia, K. G.; Smulson, M.: A duplicated region is responsible for the poly(ADP-ribose) polymerase polymorphism, on chromosome 13, associated with a predisposition to cancer. Am. J. Hum. Genet. 52: 124-134, 1993.
[0013205]3793.McBride, O. W.; Cherney, B.; Takourdin, C.; Smulson, M. E.: Human poly(ADPribose) polymerase sequences are located on chromosomes 1, 13, and 14. (Abstract) Cytogenet. Cell Genet. 46: 659-660, 1987.
[0013206]3794.Pieper, A. A.; Brat, D. J.; Krug, D. K.; Watkins, C. C.; Gupta, A.; Blackshaw, S.; Verma, A.; Wang, Z.-Q.; Snyder, S. H.: Poly(ADP-ribose) polymerase-deficient mice are protected from streptozotocin-induced diabetes. Proc. Nat. Acad. Sci. 96: 3059-3064, 1999.
[0013207]3795.Schweiger, M.; Auer, B.; Burtscher, H. J.; Hirsch-Kauffmann, M.; Klocker, H.; Schneider, R.: DNA repair in human cells: biochemistry of the hereditary diseases Fanconi's anaemia and Cockayne syndrome. Europ. J. Biochem. 165: 235-242, 1987.
[0013208]3796.Simbulan-Rosenthal, C. M.; Haddad, B. R.; Rosenthal, D. S.; Weaver, Z.; Coleman, A.; Luo, R.; Young, H. M.; Wang, Z.-Q.; Ried, T.; Smulson, M. E.: Chromosomal aberrations in PARP -/-mice: genome stabilization in immortalized cells by reintroduction of poly(ADP-ribose) polymerase cDNA. Proc. Nat. Acad. Sci. 96: 13191-13196, 1999.
[0013209]3797.Smithies, O.; Gregg, R. G.; Boggs, S. S.; Koralewski, M. A.; Kucherlapati, R. S. :Nature (London) 317: 230-234, 1985.
[0013210]3798.Vinik, A.; Bell, G.: Mutant insulin syndromes. Hormone Metab. Res. 20: 1-10, 1988.
[0013211]3799.Vinik, A. I.; Seino, S.; Funakoshi, A.; Schwartz, J.; Matsumoto, M.; Schteingart, D. E.; Fu, Z.-Z.; Tsai, S.-T.: Familial hyperinsulinemia associated with secretion of an abnormal insulin, and coexistence of insulin resistance in the propositus. J. Clin. Endocr. Metab. 62: 645-652, 1986.
[0013212]3800.Wang, J.; Takeuchi, T.; Tanaka, S.; Kubo, S.-K.; Kayo, T.; Lu, D.; Takata, K.; Koizumi, A.; Izumi, T.: A mutation in the insulin 2 gene induces diabetes with severe pancreatic beta-cell dysfunction in the Mody mouse. J. Clin. Invest. 103: 27-37, 1999.
[0013213]3801.Warren-Perry, M. G.; Manley, S. E.; Ostrega, D.; Polonsky, K.; Mussett, S.; Brown, P.; Turner, R. C.: A novel point mutation in the insulin gene giving rise to hyperproinsulinemia. J. Clin. Endocr. Metab. 82: 1629-1631, 1997.
[0013214]3802.White, R.; Leppert, M.; Bishop, D. T.; Barker, D.; Berkowitz, J.; Brown, C.; Callahan, P.; Holm, T.; Jerominski, L.: Construction of linkage maps with DNA markers for human chromosomes. Nature 313: 101-105, 1985.
[0013215]3803.Williams, L. G.; Jowett, N. I.; Vella, M. A.; Humphries, S.; Galton, D. J.: Allelic variation adjacent to the human insulin and apolipoprotein C-II genes in different ethnic groups. Hum. Genet. 71: 227-230, 1985.
[0013216]3804.Yano, H.; Kitano, N.; Morimoto, M.; Polonsky, K. S.; Imura, H.; Seino, Y.: A novel point mutation in the human insulin gene giving rise to hyperproinsulinemia (proinsulin Kyoto). J. Clin. Invest. 89: 1902-1907, 1992.
[0013217]3805.Yoshioka, M.; Kayo, T.; Ikeda, T.; Koizumi, A.: A novel locus, Mody4, distal to D7Mit189 on chromosome 7 determines early-onset NIDDM in nonobese C57BL/6 (Akita) mutant mice. Diabetes 46: 887-894, 1997.
[0013218]3806.Hasan, S.; Hassa, P. O.; Imhof, R.; Hottiger, M. O.: Transcription coactivator p300 binds PCNA and may have a role in DNA repair synthesis. Nature 410: 387-391, 2001.
[0013219]3807.Hoege, C.; Pfander, B.; Moldovan, G.-L.; Pyrowolakis, G.; Jentsch, S.: RAD6-dependent DNA repair is linked to modification of PCNA by ubiquitin and SUMO. Nature 419: 135-141, 2002.
[0013220]3808.Fonatsch, C.; Duchrow, M.; Rieder, H.; Schluter, C.; Gerdes, J. : Assignment of the human Ki-67 gene (MKI67) to 10q25-qter. Genomics 11: 476-477, 1991.
[0013221]3809.Schluter, C.; Duchrow, M.; Wohlenberg, C.; Becker, M. H. G; Key, G.; Flad, H.-D.; Gerdes, J.: The cell proliferation-associated antigen of antibody Ki-67: a very large, ubiquitous nuclear protein with numerous repeated elements, representing a new kind of cell cycle-maintaining proteins. J. Cell. Biol. 123: 513-522, 1993.
[0013222]3810.Schonk, D. M.; Kuijpers, H. J. H.; vanDrunen, E.; vanDalen, C. H.; Geurts van Kessel, A. H. M.; Verheijen, R.; Ramaekers, F. C. S. : Assignment of the gene(s) involved in the expression of the proliferation-related Ki-67 antigen to human chromosome 10. Hum. Genet. 83: 297-299, 1989.
[0013223]3811.Traut, W.; Scholzen, T.; Winking, H.; Kubbutat, M. H. G.; Gerdes, J.: Assignment of the murine Ki-67 gene (Mki67) to chromosome band 7F3-F5 by in situ hybridization. Cytogenet. Cell Genet. 83: 12-13, 1998.
[0013224]3812.Cooke, N. E.; Baxter, J. D.: Structural analysis of the prolactin gene suggests a separate origin for its 5-prime end. Nature 297: 603-606, 1982.
[0013225]3813.Cooke, N. E.; Coit, D.; Shine, J.; Baxter, J. D.; Martial, J. A. : Human prolactin: cDNA structural analysis and evolutionary comparisons. J. Biol. Chem. 256: 4007-4016, 1981.
[0013226]3814.D'Alessandro, E.; Santiemma, V.; Lo Re, M. L.; Ligas, C.; Del Porto, G.: 6p23 deletion mosaicism in a woman with recurrent abortions and idiopathic hypoprolactinemia. Am. J. Med. Genet. 44: 220-222, 1992.
[0013227]3815.DiMattia, G. E.: Personal Communication. London, Ontario, Canada 3/23/1998.
[0013228]3816.DiMattia, G. E.; Gellersen, B.; Duckworth, M. L.; Friesen, H. G. : Human prolactin gene expression: the use of an alternative noncoding exon in decidua and the IM-9-P3 lymphoblast cell line. J. Biol. Chem. 265: 16412-16421, 1990.
[0013229]3817.Evans, A. M.; Petersen, J. W.; Sekhon, G. S.; DeMars, R. I.: Use of human lymphoblastoid deletion mutants to map the prolactin gene on human chromosome 6p. (Abstract) Am. J. Hum. Genet. 43: A143 only, 1988.
[0013230]3818.Farid, N. R.; Noel, E. P.; Sampson, L.; Russell, N. A.: Prolactin-secreting adenomata are possibly associated with HLA-B8. Tissue Antigens 15: 333-335, 1980.
[0013231]3819.Gellersen, B.; Kempf, R.; Telgmann, R.; DiMattia, G. E.: Nonpituitary human prolactin gene transcription is independent of Pit-1 and differentially controlled in lymphocytes and in endometrial stroma. Molec. Endocr. 8: 356-373, 1994.
[0013232]3820.Rouleau, G. A.; Bazanowski, A.; Gusella, J. F.; Haines, J. L. : A genetic map of chromosome 1: comparison of different data sets and linkage programs. Genomics 7: 313-318, 1990.
[0013233]3821.Erdile, L. F.; Heyer, W.-D.; Kolodner, R.; Kelly, T. J.: Characterization of a cDNA encoding the 70-kDa single-stranded DNA-binding subunit of human replication protein A and the role of the protein in DNA replication. J. Biol. Chem. 266: 12090-12098, 1991.
[0013234]3822.Gomes, X. V.; Wold, M. S.: Functional domains of the 70-kilodalton subunit of human replication protein A. Biochemistry 35: 10558-10568, 1996.
[0013235]3823.Shen, L. X.; Basilion, J. P.; Stanton, V. P., Jr.: Single-nucleotide polymorphisms can cause different structural folds of mRNA. Proc. Nat. Acad. Sci. 96: 7871-7876, 1999.
[0013236]3824.Umbricht, C. B.; Erdile, L. F.; Jabs, E. W.; Kelly, T. J.: Cloning, overexpression, and genomic mapping of the 14-kDa subunit of human replication protein A. J. Biol. Chem. 268: 6131-6138, 1993.
[0013237]3825.Umbricht, C. B.; Griffin, C. A.; Hawkins, A. L.; Grzeschik, K. H.; O'Connell, P.; Leach, R.; Green, E. D.; Kelly, T. J.: High-resolution genomic mapping of the three human replication protein A genes (RPA1, RPA2, and RPA3). Genomics 20: 249-257, 1994.
[0013238]3826.Fukata, M.; Watanabe, T.; Noritake, J.; Nakagawa, M.; Yamaga, M.; Kuroda, S.; Matsuura, Y.; Iwamatsu, A.; Perez, F.; Kaibuchi, K.: Rac1 and Cdc42 capture microtubules through IQGAP1 and CLIP-170. Cell 109: 873-885, 2002.
[0013239]3827.Meyaard, L.; van der Vuurst de Vries, A.-R.; de Ruiter, T.; Lanier, L. L.; Phillips, J. H.; Clevers, H.: The epithelial cellular adhesion molecule (Ep-CAM) is a ligand for the leukocyte-associated immunoglobulin-like receptor (LAIR). J. Exp. Med. 194: 107-112, 2001.
[0013240]3828.Hitchins, M. P.; Monk, D.; Bell, G. M.; Ali, Z.; Preece, M. A.; Stanier, P.; Moore, G. E.: Maternal repression of the human GRB10 gene in the developing central nervous system; evaluation of the role for GRB10 in Silver-Russell syndrome. Europ. J. Hum. Genet. 9: 82-90, 2001.
[0013241]3829.McCann, J. A.; Zheng, H.; Islam, A.; Goodyer, C. G.; Polychronakos, C.: Evidence against GRB10 as the gene responsible for Silver-Russell syndrome. Biochem. Biophys. Res. Commun. 286: 943-948, 2001.
[0013242]3830.Miyoshi, N.; Kuroiwa, Y.; Kohda, T.; Shitara, H.; Yonekawa, H.; Kawabe, T.; Hasegawa, H.; Barton, S. C.; Surani, M. A.; Kaneko-Ishino, T.; Ishino, F.: Identification of the Meg1/Grb10 imprinted gene on mouse proximal chromosome 11, a candidate for the Silver-Russell syndrome gene. Proc. Nat. Acad. Sci. 95: 1102-1107, 1998.
[0013243]3831.Yoshihashi, H.; Maeyama, K.; Kosaki, R.; Ogata, T.; Tsukahara, M.; Goto, Y.; Hata, J.; Matsuo, N.; Smith, R. J.; Kosaki, K.: Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome. Am. J. Hum. Genet. 67: 476-482, 2000.
[0013244]3832.Grob, P. M.; Ross, A. H.; Koprowski, H.; Bothwell, M.: Characterization of the human melanoma nerve growth factor receptor. J. Biol. Chem. 260: 8044-8049, 1985.
[0013245]3833.Stanton, L. W.; Schwab, M.; Bishop, J. M.: Nucleotide sequence of the human N-myc gene. Proc. Nat. Acad. Sci. 83: 1772-1776, 1986.
[0013246]3834.Brown, M. A.; Nicolai, H.; Xu, C.-F.; Griffiths, B. L.; Jones, K. A.; Solomon, E.; Hosking, L.; Trowsdale, J.; Black, D. M.; McFarlane, R.: Regulation of BRCA1. (Letter) Nature 372: 733 only, 1994.
[0013247]3835.Brown, M. A.; Xu, C.-F.; Nicolai, H.; Griffiths, B.; Chambers, J. A.; Black, D.; Solomon, E.: The 5-prime end of the BRCA1 gene lies within a duplicated region of human chromosome 17q21. Oncogene 12: 2507-2513, 1996.
[0013248]3836.Campbell, I. G.; Nicolai, H. M.; Foulkes, W. D.; Senger, G.; Stamp, G. W.; Allan, G.; Boyer, C.; Jones, K.; Bast, R. C., Jr.; Solomon, E.; Trowsdale, J.; Black, D. M.: A novel gene encoding a B-box protein within the BRCA1 region at 17q21.1. Hum. Molec. Genet. 3: 589-594, 1994.
[0013249]3837.Kawashima, K.; Shikama, H.; Imoto, K.; Izawa, M.; Naruke, T.; Okabayashi, K.; Nishimura, S.: Close correlation between restriction fragment length polymorphism of the L-MYC gene and metastasis of human lung cancer to the lymph nodes and other organs. Proc. Nat. Acad. Sci. 85: 2353-2356, 1988.
[0013250]3838.Kaye, F.; Battey, J.; Nau, M.; Brooks, B.; Seifter, E.; De Greve, J.; Birrer, M.; Sausville, E.; Minna, J.: Structure and expression of the human L-myc gene reveal a complex pattern of alternative mRNA processing. Molec. Cell. Biol. 8: 186-195, 1988.
[0013251]3839.McBride, O. W.; Kirsch, I.; Hollis, G.; Nau, M.; Battey, J.; Minna, J.: Human L-myc (MYCL) proto-oncogene is on chromosome 1p32.(Abstract) Cytogenet. Cell Genet. 40: 694 only, 1985.
[0013252]3840.Nau, M. M.; Brooks, B. J.; Battey, J.; Sausville, E.; Gazdar, A. F.; Kirsch, I. R.; McBride, O. W.; Bertness, V.; Hollis, G. F.; Minna, J. D.: L-myc, a new myc-related gene amplified and expressed in human small cell lung cancer. Nature 318: 69-73, 1985.
[0013253]3841.Rouleau, G. A.; Bazanowski, A.; Gusella, J. F.; Haines, J. L.: A genetic map of chromosome 1: comparison of different data sets and linkage programs. Genomics 7: 313-318, 1990.
[0013254]3842.Speleman, F.; Van Camp, G.; Van Roy, N.: Reassignment of MYCL1 to human chromosome 1p34.3 by fluorescence in situ hybridization. Cytogenet. Cell Genet. 72: 189-190, 1996.
[0013255]3843.Van Roy, N.; Cheng, N. C.; Laureys, G.; Opdenakker, G.; Versteeg, R.; Speleman, F.: Molecular cytogenetic analysis of 1;17 translocations in neuroblastoma. Europ. J. Cancer 31A: 530-535, 1995.
[0013256]3844.Bottaro, D. P.; Rubin, J. S.; Faletto, D. L.; Chan, A. M.-L.; Kmiecik, T. E.; Vande Woude, G. F.; Aaronson, S. A.: Identification of the hepatocyte growth factor receptor as the c-met protooncogene product. Science 251: 802-804, 1991.
[0013257]3845.Cooper, C. S.: The met oncogene: from detection by transfection to transmembrane receptor for hepatocyte growth factor. Oncogene 7: 3-7, 1992.
[0013258]3846.Cooper, C. S.; Park, M.; Blair, D. G.; Tainsky, M. A.; Huebner, K.; Croce, C. M.; Vande Woude, G. F.: Molecular cloning of a new transforming gene from a chemically transformed human cell line. Nature 311: 29-33, 1984.
[0013259]3847.Dean, M.; Kozak, C.; Robbins, J.; Callahan, R.; O'Brien, S.; Vande Woude, G. F.: Chromosomal localization of the met proto-oncogene in the mouse and cat genome. Genomics 1: 167-173, 1987.
[0013260]3848.Dean, M.; Park, M.; Le Beau, M. M.; Robins, T. S.; Diaz, M. O.; Rowley, J. D.; Blair, D. G.; Vande Woude, G. F.: The human met oncogene is related to the tyrosine kinase oncogenes. Nature 318: 385-388, 1985.
[0013261]3849.Giordano, S.; Bardelli, A.; Zhen, Z.; Menard, S.; Ponzetto, C.; Comoglio, P. M.: A point mutation in the MET oncogene abrogates metastasis without affecting transformation. Proc. Nat. Acad. Sci. 94: 13868-13872, 1997.
[0013262]3850.Giordano, S.; Corso, S.; Conrotto, P.; Artigiani, S.; Gilestro, G.; Barberis, D.; Tamagnone, L.; Comoglio, P. M.: The Semaphorin 4D receptor controls invasive growth by coupling with Met. Nature Cell Biol. 4: 720-724, 2002.
[0013263]3851.Jeffers, M.; Fiscella, M.; Webb, C. P.; Anver, M.; Koochekpour, S.; Vande Woude, G. F.: The mutationally activated Met receptor mediates motility and metastasis. Proc. Nat. Acad. Sci. 95: 14417-14422, 1998.
[0013264]3852.Jeffers, M.; Schmidt, L.; Nakaigawa, N.; Webb, C. P.; Weirich, G.; Kishida, T.; Zbar, B.; Vande Woude, G. F.: Activating mutations for the Met tyrosine receptor in human cancer. Proc. Nat. Acad. Sci. 94: 11445-11450, 1997.
[0013265]3853.Kovacs, G.: Molecular cytogenetics of renal cell tumors. Adv. Cancer Res. 62 89-124, 1993.
[0013266]3854.Maina, F.; Casagranda, F.; Audero, E.; Simeone, A.; Comoglio, P. M.; Klein, R.; Ponzetto, C.: Uncoupling of Grb2 from the Met receptor in vivo reveals complex roles in muscle development. Cell 87: 531-542, 1996.
[0013267]3855.Maina, F.; Pante, G.; Helmbacher, F.; Andres, R.; Porthin, A.; Davies, A. M.; Ponzetto, C.; Klein, R.: Coupling Met to specific pathways results in distinct developmental outcomes. Molec. Cell 7: 1293-1306, 2001.
[0013268]3856.Park, M.; Dean, M.; Kaul, K.; Braun, M. J.; Gonda, M. A.; Vande Woude, G.: Sequence of MET protooncogene cDNA has features characteristic of the tyrosine kinase family of growth-factor receptors. Proc. Nat. Acad. Sci. 84: 6379-6383, 1987.
[0013269]3857.Schmidt, L.; Duh, F.-M.; Chen, F.; Kishida, T.; Glenn, G.; Choyke, P.; Scherer, S. W.; Zhuang, Z.; Lubensky, I.; Dean, M.; Allikmets, R.; Chidambaram, A.; and 23 others: Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinoma. Nature Genet. 16: 68-73, 1997.
[0013270]3858.Park, W. S.; Dong, S. M.; Kim, S. Y.; Na, E. Y.; Shin, M. S.; Pi, J. H.; Kim, B. J.; Bae, J. H.; Hong, Y. K.; Lee, K. S.; Lee, S. H.; Yoo, N. J.; Jang, J. J.; Pack, S.; Zhuang, Z.; Schmidt, L.; Zbar, B.; Lee, J. Y.: Somatic mutations in the kinase domain of the Met/hepatocyte growth factor receptor gene in childhood hepatocellular carcinomas. Cancer Res. 59: 307-310, 1999.
[0013271]3859.Zbar, B.; Glenn, G.; Lubensky, I.; Choyke, P.; Walther, M. M.; Magnusson, G.; Bergerheim, U. S. R.; Pettersson, S.; Amin, M.; Hurley, K.; Linehan, W. M.: Hereditary papillary renal cell carcinoma: clinical studies in 10 families. J. Urol. 153: 907-912, 1995.
[0013272]3860.Zhuang, Z.; Park, W.-S.; Pack, S.; Schmidt, L.; Vortmeyer, A. O.; Pak, E.; Pham, T.; Weil, R. J.; Candidus, S.; Lubensky, I. A.; Linehan, W. M.; Zbar, B.; Weirich, G.: Trisomy 7-harbouring non-random duplication of the mutant MET allele in hereditary papillary renal carcinomas. Nature Genet. 20: 66-69, 1998.
[0013273]3861.Akiyama, T.; Sudo, C.; Ogawara, H.; Toyoshima, K.; Yamamoto, T. : The product of the human c-erbB-2 gene: a 185-kilodalton glycoprotein with tyrosine kinase activity. Science 232: 1644-1646, 1986.
[0013274]3862.Ameyaw, M.-M.; Tayeb, M.; Thornton, N.; Folayan, G.; Tariq, M.; Mobarek, A.; Evans, D. A. P.; Ofori-Adjei, D.; McLeod, H. L.: Ethnic variation in the HER-2 codon 655 genetic polymorphism previously associated with breast cancer. J. Hum. Genet. 47: 172-175, 2002.
[0013275]3863.Chan, J. Y. C.; Lerman, M. I.; Prabhakar, B. S.; Isozaki, O.; Santisteban, P.; Kuppers, R. C.; Oates, E. L.; Notkins, A. L.; Kohn, L. D.: Cloning and characterization of a cDNA that encodes a 70-kDa novel human thyroid autoantigen. J. Biol. Chem. 264: 3651-3654, 1989.
[0013276]3864.Goedecke, W.; Eijpe, M.; Offenberg, H. H.; van Aalderen, M.; Heyting, C.: Mre11 and Ku70 interact in somatic cells, but are differentially expressed in early meiosis. Nature Genet. 23: 194-198, 1999.
[0013277]3865.Koike, M.; Matsuda, Y.; Mimori, T.; Harada, Y.-N.; Shiomi, N.; Shiomi, T.: Chromosomal localization of the mouse and rat DNA double-strand break repair genes Ku p70 and Ku p80/XRCC5 and their mRNA expression in various mouse tissues. Genomics 38: 38-44, 1996.
[0013278]3866.Takata, M.; Sasaki, M. S.; Sonoda, E.; Morrison, C.; Hashimoto, M.; Utsumi, H.; Yamaguchi-Iwai, Y.; Shinohara, A.; Takeda, S.: Homologous recombination and non-homologous endjoining pathways of DNA double-strand break repair have overlapping roles in the maintenance of chromosomal integrity in vertebrate cells. EMBO J. 17: 5497-5508, 1998.
[0013279]3867.Tuteja, N.; Tuteja, R.; Ochem, A.; Taneja, P.; Huang, N. W.; Simoncsits, A.; Susic, S.; Rahman, K.; Marusic, L.; Chen, J.; Zhang, J.; Wang, S.; Pongor, S.; Falaschi, A.: Human DNA helicase II: a novel DNA unwinding enzyme identified as the Ku autoantigen. EMBO J. 13: 4991-5001, 1994.
[0013280]3868.Walker, J. R.; Corpina, R. A.; Goldberg, J.: Structure of the Ku heterodimer bound to DNA and its implications for double-strand break repair. Nature 412: 607-614, 2001.
[0013281]3869.Balestrazzi, P.; Baeteman, M. A.; Mattei, M. G.; Mattei, J. F. : Franceschetti syndrome in a child with a de novo balanced translocation (5;13)(q11;p11) and significant decrease of hexosaminidase B. Hum. Genet. 64: 305-308, 1983.
[0013282]3870.Dixon, M. J.: Treacher Collins syndrome. Hum. Molec. Genet. 1996: 1391-1396, 1996.
[0013283]3871.Dixon, M. J.; Dixon, J.; Houseal, T.; Bhatt, M.; Ward, D. C.; Klinger, K.; Landes, G. M.: Narrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32-33.1. Am. J. Hum. Genet. 52: 907-914, 1993.
[0013284]3872.Dixon, M. J.; Dixon, J.; Raskova, D.; Le Beau, M. M.; Williamson, R.; Klinger, K.; Landes, G. M.: Genetic and physical mapping of the Treacher Collins syndrome locus: refinement of the localization to chromosome 5q32-33.2. Hum. Molec. Genet. 1: 249-253, 1992.
[0013285]3873.Edery, P.; Manach, Y.; Le Merrer, M.; Till, M.; Vignal, A.; Lyonnet, S.; Munnich, A.: Apparent genetic homogeneity of the Treacher Collins-Franceschetti syndrome. Am. J. Med. Genet. 52: 174-177, 1994.
[0013286]3874.Arakawa, T.; Narisawa, K.; Tanno, K.; Ohara, K.; Higashi, O.; Honda, Y.; Tamura, T.; Wada, Y.; Mizuno, T.; Hayashi, T.; Hirooka, Y.; Ohno, T.; Ikeda, M.: Megaloblastic anemia and mental retardation associated with hyperfolic-acidemia: probably due to N-5-methyltetrahydrofolate transferase deficiency. Tohoku J. Exp. Med. 93: 1-22, 1967.
[0013287]3875.Chen, L. H.; Liu, M.-L.; Hwang, H.-Y.; Chen, L.-S.; Korenberg, J.; Shane, B.: Human methionine synthase: cDNA cloning, gene localization, and expression. J. Biol. Chem. 272: 3628, and 3634, 1997.
[0013288]3876.Christensen, B.; Arbour, L.; Tran, P.; Leclerc, D.; Sabbaghian, N.; Platt, R.; Gilfix, B. M.; Rosenblatt, D. S.; Gravel, R. A.; Forbes, P.; Rozen, R.: Genetic polymorphisms in methylenetetrahydrofolate reductase and methionine synthase, folate levels in red blood cells, and risk of neural tube defects. Am. J. Med. Genet. 84: 151-157, 1999.
[0013289]3877.Gulati, S.; Baker, P.; Li, Y. N.; Fowler, B.; Kruger, W.; Brody, L. C.; Banerjee, R.: Defects in human methionine synthase in cblG patients. Hum. Molec. Genet. 5: 1859-1865, 1996.
[0013290]3878.Kvittingen, E. A.; Spangen, S.; Lindemans, J.; Fowler, B.: Methionine synthase deficiency without megaloblastic anaemia. Europ. J. Pediat. 156: 925-930, 1997.
[0013291]3879.Leclerc, D.; Campeau, E.; Goyette, P.; Adjalla, C. E.; Christensen, B.; Ross, M.; Eydoux, P.; Rosenblatt, D. S.; Rozen, R.; Gravel, R. A.: Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders. Hum. Molec. Genet. 5: 1867-1874, 1996.
[0013292]3880.Li, Y. N.; Gulati, S.; Baker, P. J.; Brody, L. C.; Banerjee, R.; Kruger, W. D.: Cloning, mapping and RNA analysis of the human methionine synthase gene. Hum. Molec. Genet. 5: 1851-1858, 1996.
[0013293]3881.Mellman, I. S.; Lin, P.-F.; Ruddle, F. H.; Rosenberg, L. E.: Genetic control of cobalamin binding in normal and mutant cells: assignment of the gene for 5-methyltetrahydrofolate: L-homocysteine S-methyltransferase to human chromosome 1. Proc. Nat. Acad. Sci. 76: 405-409, 1979.
[0013294]3882.Mudd, S. H.: Cobalamin-responsive genetic disorders.In: Shimazono, N.; Arakawa, T. (eds.): Nutritional deficiency secondary to inborn errors of metabolism its relationship to physical and mental development. Ichikawa: Jap. Panel Maln. U.S.-Japan Coop. Med. Sci. Program 1977.
[0013295]3883.Paz, M. F.; Avila, S.; Fraga, M. F.; Pollan, M.; Capella, G.; Peinado, M. A.; Sanchez-Cespedes, M.; Herman, J. G.; Esteller, M. : Germ-line variants in methyl-group metabolism genes and susceptibility to DNA methylation in normal tissues and human primary tumors. Cancer Res. 62: 4519-4524, 2002.
[0013296]3884.Van Someren, H.; Westerveld, A.; Hagemeijer, A.; Mees, J. R.; Meera Khan, P.; Zaalberg, O. B.: Human antigen and enzyme markers in man-Chinese hamster somatic cell hybrids: evidence for synteny between the HL-A, PGM-3, ME-1, and IPO-B loci. Proc. Nat. Acad. Sci. 71: 962-965, 1974.
[0013297]3885.Jakoi, E. R.; Brown, A. L.; Ho, Y.-S.; Snyderman, R.: Molecular cloning of the cDNA for ligatin. J. Cell Sci. 93: 227-232, 1989.
[0013298]3886.Malnar-Dragojevic, D.; Trachtulec, Z.; Vincek, V.: Assignment of the mouse ligatin gene (Lgtn) to chromosome 1F by fluorescence in situ hybridization. Genomics 40: 192-193, 1997.
[0013299]3887.Dombroski, B. A.; Mathias, S. L.; Nanthakumar, E.; Scott, A. F.; Kazazian, H. H., Jr.: Isolation of an active human transposable element. Science 254: 1805-1808, 1991.
[0013300]3888.Longy, M.; Coulon, V.; Duboue, B.; David, A.; Larregue, M.; Eng, C.; Amati, P.; Kraimps, J.-L.; Bottani, A.; Lacombe, D.; Bonneau, D.: Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype. J. Med. Genet. 35: 886-889, 1998.
[0013301]3889.Marsh, D. J.; Dahia, P. L. M.; Zheng, Z.; Liaw, D.; Parsons, R.; Gorlin, R. J.; Eng, C.: Germline mutations in PTEN are present in Bannayan-Zonana syndrome. (Letter) Nature Genet. 16: 333-334, 1997.
[0013302]3890.Marsh, D. J.; Kum, J. B.; Lunetta, K. L.; Bennett, M. J.; Gorlin, R. J.; Ahmed, S. F.; Bodurtha, J.; Crowe, C.; Curtis, M. A.; Dasouki, M.; Dunn, T.; Feit, H.; and 20 others: PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum. Molec. Genet. 8: 1461-1472, 1999.
[0013303]3891.Kurt-Jones, E. A.; Popova, L.; Kwinn, L.; Haynes, L. M.; Jones, L. P.; Tripp, R. A.; Walsh, E. E.; Freeman, M. W.; Golenbock, D. T.; Anderson, L. J.; Finberg, R. W.: Pattern recognition receptors TLR4 and CD14 mediate response to respiratory syncytial virus. Nature Immun. 1: 398-401, 2000.
[0013304]3892.Daikh, D. I.; Douglass, J. O.; Adelman, J. P.: Structure and expression of the human motilin gene. DNA 8: 615-621, 1989.
[0013305]3893.Fan, Y.-S.; Eddy, R. L.; Byers, M. G.; Haley, L. L.; Henry, W. M.; Yano, H.; Seino, Y.; Fujita, J.; Yamada, Y.; Inagaki, N.; Takeda, J.; Imura, H.; Bell, G. I.; Shows, T. B.: Localization of the human motilin gene (MLN) to chromosome 6p21.2. (Abstract) Cytogenet. Cell Genet. 51: 977 only, 1989.
[0013306]3894.Feighner, S. D.; Tan, C. P.; McKee, K. K.; Palyha, O. C.; Hreniuk, D. L.; Pong, S.-S.; Austin, C. P.; Figueroa, D.; MacNeil, D.; Cascieri, M. A.; Nargund, R.; Bakshi, R.; Abramovitz, M.; Stocco, R.; Kargman, S.; O'Neill, G.; Van Der Ploeg, L. H. T.; Evans, J.; Patchett, A. A.; Smith, R. G.; Howard, A. D.: Receptor for motilin identified in the human gastrointestinal system. Science 284: 2184-2188, 1999.
[0013307]3895.Gasparini, P.; Grifa, A.; Savasta, S.; Merlo, I.; Bisceglia, L.; Totaro, A.; Zelante, L.: The motilin gene: subregional localisation, tissue expression, DNA polymorphisms and exclusion as a candidate gene for the HLA-associated immotile cilia syndrome. Hum. Genet. 94: 671-674, 1994.
[0013308]3896.Isnard, P.; Depetris, D.; Mattei, M.-G.; Ferrier, P.; Djabali, M.: cDNA cloning, expression and chromosomal localization of the murine AF-4 gene involved in human leukemia. Mammalian Genome 9: 1065-1068, 1998.
[0013309]3897.Lovett, B. D.; Lo Nigro, L.; Rappaport, E. F.; Blair, I. A.; Osheroff, N.; Zheng, N.; Megonigal, M. D.; Williams, W. R.; Nowell, P. C.; Felix, C. A.: Near-precise interchromosomal recombination and functional DNA topoisomerase II cleavage sites at MLL and AF-4 genomic breakpoints in treatment-related acute lymphoblastic leukemia with t(4;11) translocation. Proc. Nat. Acad. Sci. 98: 9802-9807, 2001.
[0013310]3898.Uckun, F. M.; Herman-Hatten, K.; Crotty, M.-L.; Sensel, M. G.; Sather, H. N.; Tuel-Ahlgren, L.; Sarquis, M. B.; Bostrom, B.; Nachman, J. B.; Steinherz, P. G.; Gaynon, P. S.; Heerema, N.: Clinical significance of MLL-AF4 fusion transcript expression in the absence of a cytogenetically detectable t(4;11)(q21;q23) chromosomal translocation. Blood 92: 810-821, 1998.
[0013311]3899.Prasad, R.; Gu, Y.; Alder, H.; Nakamura, T.; Canaani, O.; Saito, H.; Huebner, K.; Gale, R. P.; Nowell, P. C.; Kuriyama, K.; Miyazaki, Y.; Croce, C. M.; Canaani, E.: Cloning of the ALL-1 fusion partner, the AF-6 gene, involved in acute myeloid leukemias with the t(6;11) chromosome translocation. Cancer Res. 53: 5624-5628, 1993.
[0013312]3900.Saha, V.; Lillington, D. M.; Shelling, A. N.; Chaplin, T.; Yaspo, M.-L.; Ganesan, T. S.; Young, B. D.: AF6 gene on chromosome band 6q27 maps distal to the minimal region of deletion in epithelial ovarian cancer. Genes Chromosomes Cancer 14: 220-222, 1995.
[0013313]3901.Gerling, I. C.; Karlsen, A. E.; Chapman, H. D.; Andersen, H. U.; Boel, E.; Cunningham, J. M.; Nerup, J.; Leiter, E. H.: The inducible nitric oxide synthase gene, Nos2, maps to mouse chromosome 11. Mammalian Genome 5: 318-320, 1994.
[0013314]3902.Van Cong, N.; Moullec, J.: Linkage probable entre les groupes de phosphatase acide des globules rouges et le systeme Lewis. Ann. Genet. 14: 121-125, 1971.
[0013315]3903.Carmeliet, P.; Moons, L.; Lijnen, R.; Janssens, S.; Lupu, F.; Collen, D.; Gerard, R. D.: Inhibitory role of plasminogen activator inhibitor-1 in arterial wound healing and neointima formation: a gene targeting and gene transfer study in mice. Circulation 96: 3180-3191, 1997.
[0013316]3904.Crandall, D. L.; Busler, D. E.; McHendry-Rinde, B.; Groeling, T. M.; Kral, J. G.: Autocrine regulation of human preadipocyte migration by plasminogen activator inhibitor-1. J. Clin. Endrocr. Metab. 85: 2609-2614, 2000.
[0013317]3905.Dawson, S. J.; Wiman, B.; Hamsten, A.; Green, F.; Humphries, S.; Henney, A. M.: The two allele sequences of a common polymorphism in the promoter of the plasminogen activator inhibitor-1 (PAI-1) gene respond differently to interleukin-1 in HepG2 cells. J. Biol. Chem. 268: 10739-10745, 1993.
[0013318]3906.Engesser, L.; Brommer, E. J. P.; Kluft, C.; Briet, E.: Elevated plasminogen activator inhibitor (PAI), a cause of thrombophilia? A study in 203 patients with familial or sporadic venous thrombophilia. Thromb. Haemost. 62: 673-680, 1989.
[0013319]3907.Erickson, L. A.; Fici, G. J.; Lund, J. E.; Boyle, T. P.; Polites, H. G.; Marotti, K. R.: Development of venous occlusions in mice transgenic for the plasminogen activator inhibitor-1 gene. Nature 346: 74-76, 1990.
[0013320]3908.Eriksson, P.; Kallin, B.; van t'Hooft, F. M.; Bavhenolm. P.; Hamsten, A.: Allelicspecific increase in basal transcription of the plasminogen-activator inhibitor 1 gene is associated with myocardial infarction. Proc. Nat. Acad. Sci. 92: 1851-1855, 1995.
[0013321]3909.Fay, W. P.; Parker, A. C.; Condrey, L. R.; Shapiro, A. D.: Human plasminogen activator inhibitor-1 (PAI-1) deficiency: characterization of a large kindred with a null mutation in the PAI-1 gene. Blood 90: 204-208, 1997.
[0013322]3910.Fay, W. P.; Shapiro, A. D.; Shih, J. L.; Schleef, R. R.; Ginsburg, D.: Complete deficiency of plasminogen-activator inhibitor type I due to a frameshift mutation. New Eng. J. Med. 327: 1729-1733, 1992.
[0013323]3911.Ginsburg, D.; Zeheb, R.; Yang, A. Y.; Rafferty, U. M.; Andreasen, P. A.; Nielsen, L.; Dano, K.; Lebo, R. V.; Gelehrter, T. D.: cDNA cloning of human plasminogen activator-inhibitor from endothelial cells. J. Clin. Invest. 78: 1673-1680, 1986.
[0013324]3912.Glueck, C. J.; Glueck, H. I.; Mieczkowski, L.; Tracy, T.; Speirs, J.; Stroop, D.: Familial high plasminogen activator inhibitor with hypofibrinolysis, a new pathophysiologic cause of osteonecrosis? Thromb. Haemost. 69: 460-465, 1993.
[0013325]3913.Halleux, C. M.; Declerck, P. J.; Tran, S. L.; Detry, R.; Brichard, S. M.: Hormonal control of plasminogen activator inhibitor-1 gene expression and production in human adipose tissue: stimulation by glucocorticoids and inhibition by catecholamines. J. Clin. Endocr. Metab. 84: 4097-4105, 1999.
[0013326]3914.Hermans, P. W. M.; Hibberd, M. L.; Booy, R.; Daramola, O.; Hazelzet, J. A.; de Groot, R.; Levin, M.; Meningococcal Research Group: 4G/5G promoter polymorphism in the plasminogenactivator-inhibitor-1 gene and outcome of meningococcal disease. Lancet 354: 556-560, 1999.
[0013327]3915.Klinger, K. W.; Winqvist, R.; Andreasen, P. A.; Stuart, N.; Stanislovitis, P.; Schwartz, R.; Doherty, R.; Alitalo, K.; Blasi, F.; Dano, K.: Regional mapping of the plasminogen activator inhibitor type 1 gene to 7q21.3-q22 and assignment to the CF linkage group. (Abstract) Cytogenet. Cell Genet. 46: 640 only, 1987.
[0013328]3916.Klinger, K. W.; Winqvist, R.; Andreasen, P. A.; Stuart, N.; Stanislovitis, P.; Watkins, P.; Schwartz, R.; Doherty, R.; Alitalo, K.; Blasi, F.; Dano, K.: Assignment of the human plasminogen activator inhibitor type 1 (PAI-1) gene to 7q21.3-q22 and genetic linkage to markers on chromosome 7. (Abstract) Am. J. Hum. Genet. 41: A172 only, 1987.
[0013329]3917.Klinger, K. W.; Winqvist, R.; Riccio, A.; Andreasen, P. A.; Sartorio, R.; Nielsen, L. S.; Stuart, N.; Stanislovitis, P.; Watkins, P.; Douglas, R.; Grzeschik, K.-H.; Alitalo, K.; Blasi, F.; Dano, K.: Plasminogen activator inhibitor type 1 gene is located at region q21.3-q22 of chromosome 7 and genetically linked with cystic fibrosis. Proc. Nat. Acad. Sci. 84: 8548-8552, 1987.
[0013330]3918.Kohler, H. P.; Grant, P. J.: Plasminogen-activator inhibitor type 1 and coronary artery disease. New Eng. J. Med. 342: 1792-1801, 2000.
[0013331]3919.Loskutoff, D. J.; Linders, M.; Keijer, J.; Veerman, H.; van Heerikhuizen, H.; Pannekoek, H.: Structure of the human plasminogen activator inhibitor 1 gene: nonrandom distribution of introns. Biochemistry 26: 3763-3768, 1987.
[0013332]3920.Margaglione, M.; Cappucci, G.; Colaizzo, D.; Giuliani, N.; Vecchione, G.; Grandone, E.; Pennelli, O.; Di Minno, G.: The PAI-1 gene locus 4G/5G polymorphism is associated with a family history of coronary artery disease. Arterioscler. Thromb. Vasc. Biol. 18: 152-156, 1998.
[0013333]3921.Nilsson, I. M.; Ljungner, H.; Tengborn, L.: Two different mechanisms in patients with venous thrombosis and defective fibrinolysis: low concentration of plasminogen activator or increased concentration of plasminogen activator inhibitor. Brit. Med. J. 290: 1453-1456, 1985.
[0013334]3922.Wakita, Y.; Narahara, K.; Takahashi, Y.; Kikkawa, K.; Kimura, S.; Oda, M.; Kimoto, H.: Duplication of 2p25: confirmation of the assignment of soluble acid phosphatase (ACP1) locus to 2p25. Hum. Genet. 71: 259-260, 1985.
[0013335]3923.Weitkamp, L. R.; Janzen, M. K.; Guttormsen, S. A.; Gershowitz, H.: Inherited pericentric inversion of chromosome number two: a linkage study. Ann. Hum. Genet. 33: 53-59, 1969.
[0013336]3924.Weitkamp, L. R.; Lovrien, E. W.; Olaisen, B.; Fenger, K.; Gedde-Dahl, T., Jr.; Sorensen, S. A.; Conneally, P. M.; Bias, W. B.; Ott, J.: Linkage relations of the loci for the MN blood group and red cell phosphate. Birth Defects Orig. Art. Ser. 11(3): 276-280, 1975. Note: Alternate: Cytogenet. Cell Genet. 14: 446-450, 1975...
[0013337]3925.Wo, Y.-Y. P.; McCormack, A. L.; Shabanowitz, J.; Hunt, D. F.; Davis, J. P.; Mitchell, G. L.; Van Etten, R. L.: Sequencing, cloning, and expression of human red cell-type acid phosphatase, a cytoplasmic phosphotyrosyl protein phosphatase. J. Biol. Chem. 267: 10856-10865, 1992.
[0013338]3926.Yoshihara, C. M.; Mohrenweiser, H. W.: Characterization of ACP1(TIC-1), an electrophoretic variant of erythrocyte acid phosphatase restricted to the Ticuna Indians of Central Amazonas. Am. J. Hum. Genet. 32: 898-907, 1980.
[0013339]3927.Allen, B. S.; Ketcham, C. M.; Roberts, R. M.; Nick, H. S.; Ostrer, H.: Localization of the human type 5, tartrate-resistant acid phosphatase gene by in situ hybridization. Genomics 4: 597-600, 1989.
[0013340]3928.Bune, A. J.; Hayman, A. R.; Evans, M. J.; Cox, T. M.: Mice lacking tartrate-resistant acid phosphatase (Acp 5) have disordered macrophage inflammatory responses and reduced clearance of the pathogen, Staphylococcus aureus. Immunology 102: 103-113, 2001.
[0013341]3929.Grimes, R.; Reddy, S. V.; Leach, R. J.; Scarcez, T.; Roodman, G. D.; Sakaguchi, A. Y.; Lalley, P. A.; Windle, J. J.: Assignment of the mouse tartrate-resistant acid phosphatase gene (Acp5) to chromosome 9. Genomics 15: 421-422, 1993.
[0013342]3930.Hayman, A. R.; Jones, S. J.; Boyde, A.; Foster, D.; Colledge, W. H.; Carlton, M. B.; Evans, M. J.; Cox, T. M.: Mice lacking tartrate-resistant acid phosphatase (Acp 5) have disrupted endochondral ossification and mild osteopetrosis. Development 122: 3151-3162, 1996.
[0013343]3931.Ketcham, C. M.; Roberts, R. M.; Simmen, R. C.; Nick, H. S.: Molecular cloning of the type 5, iron-containing, tartrate-resistant acid phosphatase from human placenta. J. Biol. Chem. 264: 557-563, 1988.
[0013344]3932.Leach, R. J.; Reus, B. E.; Hundley, J. E.; Johnson-Pais, T. L.; Windle, J. J.: Confirmation of the assignment of the human tartrate-resistant acid phosphatase gene (ACP5) to chromosome 19. Genomics 19: 180-181, 1994.
[0013345]3933.Lord, D. K.; Cross, N. C. P.; Bevilacqua, M. A.; Rider, S. H.; Gorman, P. A.; Groves, A. V.; Moss, D. W.; Sheer, D.; Cox, T. M.: Type 5 acid phosphatase: sequence, expression and chromosomal localization of a differentiation-associated protein of the human macrophage. Europ. J. Biochem. 189: 287-293, 1990.
[0013346]3934.Griffiths, L. R.: Authors response to 'Chromosome 17 and the inducible nitric oxide synthase gene in human essential hypertension' by Rutherford et al., Human Genetics, published on-line September 2001. (Letter) Hum. Genet. 110: 100-103, 2002.
[0013347]3935.Jenkins, N. A.; Rothe, H.; Gilbert, D. J.; Copeland, N. G.; Kolb, H.: Mapping of the gene for inducible nitric oxide (NO) synthase of mouse macrophages to chromosome 11, close to Evi-2, nu, and Idd-4. Genomics 19: 402-404, 1994.
[0013348]3936.Johannesen, J.; Pie, A.; Pociot, F.; Kristiansen, O. P.; Karlsen, A. E.; Nerup, J. The Danish Study Group of Diabetes in Childhood; The Danish Insulin-Dependent Diabetes Mellitus Epidemiology and Genetics Group: Linkage of the human inducible nitric oxide synthase gene to type 1 diabetes. J. Clin. Endocr. Metab. 86: 2792-2796, 2001.
[0013349]3937.Lowenstein, C. J.; Glatt, C. S.; Bredt, D. S.; Snyder, S. H.: Cloned and expressed macrophage nitric oxide synthase contrasts with the brain enzyme. Proc. Nat. Acad. Sci. 89: 6711-6715, 1992.
[0013350]3938.Marsden, P. A.; Heng, H. H. Q.; Duff, C. L.; Shi, X.-M.; Tsui, L.-C.; Hall, A. V.: Localization of the human gene for inducible nitric oxide synthase (NOS2) to chromosome 17q11.2-q12. Genomics 19: 183-185, 1994.
[0013351]3939.Mehrabian, M.; Xia, Y.-R.; Wen, P.-Z.; Warden, C. H.; Herschman, H. R.; Lusis, A. J.: Localization of murine macrophage inducible nitric oxide synthase to mouse chromosome 11. Genomics 22: 646-647, 1994.
[0013352]3940.Morris, B. J.: Critique of 'Chromosome 17 and the inducible nitric oxide synthase gene in human essential hypertension' by Rutherford et al., Human Genetics, published online September 2001. (Letter) Hum. Genet. 110: 98-99, 2002.
[0013353]3941.Nathan, C.; Shiloh, M. U.: Reactive oxygen and nitrogen intermediates in the relationship between mammalian hosts and microbial pathogens. Proc. Nat. Acad. Sci. 97: 8841-8848, 2000.
[0013354]3942.Nicholson, S.; Bonecini-Almeida Mda, G; Lapa e Silva, J. R.; Nathan, C.; Xie, Q. W.; Mumford, R.; Weidner, J. R.; Calaycay, J.; Geng, J.; Boechat, N.; et al.; et al.: Inducible nitric oxide synthase in pulmonary alveolar macrophages from patients with tuberculosis. J. Exp. Med. 183: 2293-2302, 1996.
[0013355]3943.Nozaki, Y.; Hasegawa, Y.; Ichiyama, S.; Nakashima, I.; Shimokata, K.: Mechanism of nitric oxide-dependent killing of Mycobacterium bovis BCG in human alveolar macrophages. Infect. Immun. 65: 3644-3647, 1997.
[0013356]3944.Vouldoukis, I.; Riveros-Moreno, V.; Dugas, B.; Ouaaz, F.; Becherel, P.; Debre, P.; Moncada, S.; Mossalayi, M. D.: The killing of Leishmania major by human macrophages is mediated by nitric oxide induced after ligation of the Fc-epsilon-RII/CD23 surface antigen. Proc. Nat. Acad. Sci. 92: 7804-7808, 1995.
[0013357]3945.Xu, W.; Charles, I. G.; Liu, L.; Moncada, S.; Emson, P.: Molecular cloning and structural organization of the human inducible nitric oxide synthase gene (NOS2). Biochem. Biophys. Res. Commun. 219: 784-788, 1996.
[0013358]3946.Xu, W.; Charles, I. G.; Moncada, S.; Gorman, P.; Sheer, D.; Liu, L.; Emson, P.: Mapping of the genes encoding human inducible and endothelial nitric oxide synthase (NOS2 and NOS3) to the pericentric region of chromosome 17 and to chromosome 7, respectively. Genomics 21: 419-422, 1994.
[0013359]3947.Bredt, D. S.; Hwang, P. M.; Glatt, C. E.; Lowenstein, C.; Reed, R. R.; Snyder, S. H.: Cloned and expressed nitric oxide synthase structurally resembles cytochrome P-450 reductase. Nature 351: 714-718, 1991.
[0013360]3948.Brenman, J. E.; Chao, D. S.; Xia, H.; Aldape, K.; Bredt, D. S. : Nitric oxide synthase complexed with dystrophin and absent from skeletal muscle sarcolemma in Duchenne muscular dystrophy. Cell 82: 743-752, 1995.
[0013361]3949.Burnett, A. L.; Lowenstein, C. J.; Bredt, D. S.; Chang, T. S. K.; Snyder, S. H.: Nitric oxide: a physiologic mediator of penile erection. Science 257: 401-403, 1992.
[0013362]3950.Day, B. J.; Patel, M.; Calavetta, L.; Chang, L.-Y.; Stamler, J. S.: A mechanism of paraquat toxicity involving nitric oxide synthase. Proc. Nat. Acad. Sci. 96: 12760-12765, 1999.
[0013363]3951.Deans, Z.; Dawson, S. J.; Xie, J.; Young, A. P.; Wallace, D.; Latchman, D. S.: Differential regulation of the two neuronal nitric-oxide synthase gene promoters by the Oct-2 transcription factor. J. Biol. Chem. 271: 32153-32158, 1996.
[0013364]3952.Gu, Z.; Kaul, M.; Yan, B.; Kridel, S. J.; Cui, J.; Strongin, A.; Smith, J. W.; Liddington, R. C.; Lipton, S. A.: S-nitrosylation of matrix metalloproteinases: signaling pathway to neuronal cell death. Science 2 97: 1186-1190, 2002.
[0013365]3953.Kharazia, V. N.; Schmidt, H. H. H. W.; Weinberg, R. J.: Type I nitric oxide synthase fully accounts for NADPH-diaphorase in rat striatum, but not cortex. Neuroscience 62: 983-987, 1994.
[0013366]3954.Kishimoto, J.; Spurr, N.; Liao, M.; Lizhi, L.; Emson, P.; Xu, W. : Localization of brain nitric oxide synthase (NOS) to human chromosome 12. Genomics 14: 802-804, 1992.
[0013367]3955.Kuo, R. C.; Baxter, G. T.; Thompson, S. H.; Stricker, S. A.; Patton, C.; Bonaventura, J.; Epel, D.: NO is necessary and sufficient for egg activation at fertilization. Nature 406: 633-636, 2000.
[0013368]3956.Lee, C. G. L.; Gregg, A. R.; O'Brien, W. E.: Localization of the neuronal form of nitric oxide synthase to mouse chromosome 5. Mammalian Genome 6: 56-57, 1995.
[0013369]3957.Magee, T.; Fuentes, A. M.; Garban, H.; Rajavashisth, T.; Marquez, D.; Rodriguez, J. A.; Rajfer, J.; Gonzalez-Cadavid, N. F.: Cloning of a novel neuronal nitric oxide synthase expressed in penis and lower urinary tract. Biochem. Biophys. Res. Commun. 226: 145-151, 1996.
[0013370]3958.Servidei, S.; Riepe, R.; Langston, C.; Tani, L. Y.; Bricker, J. T.; Crisp Lindgren, N.; Travers, H.; Armstrong, D.; DiMauro, S.: Severe cardiopathy in branching enzyme deficiency. J. Pediat. 111: 51-56, 1987.
[0013371]3959.Shin, Y. S.; Steiguber, H.; Klemm, P.; Endres, W.; Schwab, O.; Wolff, G.: Branching enzyme in erythrocytes: detection of type IV glycogenosis homozygotes and heterozygotes. J. Inherit. Metab. Dis. 11 (suppl. 2): 252-254, 1988.
[0013372]3960.Sidbury, J. B., Jr.; Mason, J.; Burns, W. B., Jr.; Ruebner, B. H.: Type IV glycogenosis: report of a case proven by characterization of glycogen and studied at necropsy. Bull. Johns Hopkins Hosp. 111: 157-181, 1962.
[0013373]3961.Tang, T. T.; Segura, A. D.; Chen, Y.-T.; Ricci, L. M.; Franciosi, R. A.; Splaingard, M. L.; Lubinsky, M. S.: Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis. Acta Neuropath. 87: 531-536, 1994.
[0013374]3962.Thon, V. J.; Khalil, M.; Cannon, J. F.: Isolation of human glycogen branching enzyme cDNAs by screening complementation in yeast. J. Biol. Chem. 268: 7509-7513, 1993.
[0013375]3963.Zellweger, H.; Mueller, S.; Ionasescu, V.; Schochet, S. S.; McCormick, W. F.: Glycogenosis. IV. A new cause of infantile hypotonia. J. Pediat. 80: 842-844, 1972.
[0013376]3964.Abarbanel, J. M.; Potashnik, R.; Frisher, S.; Moses, S. W.; Osimani, A.; Herishanu, Y.: Myophosphorylase deficiency: the course of an unusual congenital myopathy. Neurology 37: 316-318, 1987.
[0013377]3965.Bartram, C.; Edwards, R. H. T.; Clague, J.; Beynon, R. J.: McArdle's disease: a nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all cases. Hum. Molec. Genet. 2: 1291-1293, 1993.
[0013378]3966.Bogusky, R. T.; Taylor, R. G.; Anderson, L. J.; Angelos, K. L.; Lieberman, J. S.; Walsh, D. A.: McArdle's disease heterozygotes: metabolic adaptation assessed using (31)P-nuclear magnetic resonance. J. Clin. Invest. 77: 1881-1887, 1986.
[0013379]3967.Braakhekke, J. P.; de Bruin, M. I.; Stegeman, D. F.; Wevers, R. A.; Binkhorst, R. A.; Joosten, E. M. G.: The second wind phenomenon in McArdle's disease. Brain 109: 1087-1101, 1986.
[0013380]3968.Bruno, C.; Lofberg, M.; Tamburino, L.; Jankala, H.; Hadjigeorgiou, G. M.; Andreu, A. L.; Shanske, S.; Somer, H.; DiMauro, S.: Molecular characterization of McArdle's disease in two large Finnish families. J. Neurol. Sci. 165: 121-125, 1999.
[0013381]3969.Burke, J.; Hwang, P.; Anderson, L.; Lebo, R.; Gorin, F.; Fletterick, R.: Intron/exon structure of the human gene for the muscle isozyme of glycogen phosphorylase. Protein 2: 177-187, 1987.
[0013382]3970.Cerri, C. G.; Willner, J. H.: Phosphorylation of McArdle phosphorylase induces activity. Proc. Nat. Acad. Sci. 78: 2688-2692, 1981.
[0013383]3971.Chui, L. A.; Munsat, T. L.: Dominant inheritance of McArdle syndrome. Arch. Neurol. 33: 636-641, 1976.
[0013384]3972.Cochran, P.; Huges, R. R.; Buxton, P. H.; Yorke, R. A.: Myophosphorylase deficiency (McArdle's disease) in two interrelated families. J. Neurol. Neurosurg. Psychiat. 36: 217-224, 1973.
[0013385]3973.Daegelen, D.; Gautron, S.; Mennecier, F.; Dreyfus, J.-C.; Kahn, A.: Molecular heterogeneity of McArdle disease. J. Inherit. Metab. Dis. 9: 287-290, 1986.
[0013386]3974.Daegelen-Proux, D.; Kahn, A.; Marie, J.; Dreyfus, J.-C.: Research on molecular mechanisms of McArdle's disease (muscle glycogen phosphorylase deficiency): use of new protein mapping and immunological techniques. Ann. Hum. Genet. 45: 113-120, 1981.
[0013387]3975.Dawson, D. M.; Spong, F. L.; Harrington, J. F.: McArdle's disease: lack of muscle phosphorylase. Ann. Intern. Med. 69: 229-236, 1968.
[0013388]3976.DiMauro, S.; Hartlage, P. L.: Fatal infantile form of muscle phosphorylase deficiency. Neurology 28: 1124-1129, 1978.
[0013389]3977.Di Sant'Agnese, P. A.; Anderson, D. H.; Metcalf, K. M.: Glycogen storage disease of the muscles. J. Pediat. 61: 438-442, 1962.
[0013390]3978.Engel, W. K.; Eyerman, E. L.; Williams, H. E.: Late-onset type of skeletal-muscle phosphorylase deficiency: a new familial variety with completely and partially affected subjects. New Eng. J. Med. 268: 135-137, 1963.
[0013391]3979.Fernandez, R.; Navarro, C.; Andreu, A. L.; et al.: A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease. Arch. Neurol. 57: 217-219, 2000.
[0013392]3980.Gautron, S.; Daegelen, D.; Mennecier, F.; Dubocq, D.; Kahn, A.; Dreyfus, J.-C.: Molecular mechanisms of McArdle's disease (muscle glycogen phosphorylase deficiency). J. Clin. Invest. 79: 275-281, 1987.
[0013393]3981.Grunfeld, J.-P.; Ganeval, D.; Chanard, J.; Fardeau, M.; Dreyfus, J.-C.: Acute renal failure in McArdle's disease: report of two cases. New Eng. J. Med. 286: 1237-1241, 1972.
[0013394]3982.Haller, R. G.; Dempsey, W. B.; Feit, H.; Cook, J. D.; Knochel, J. P.: Low muscle levels of pyridoxine in McArdle's syndrome. Am. J. Med. 74: 217-220, 1983.
[0013395]3983.Iwasaki, H.; Stewart, P. W.; Dilley, W. G.; Holt, M. S.; Steinbrueck, T. D.; Wells, S. A., Jr.; Donis-Keller, H.: A minisatellite and a microsatellite polymorphism within 1.5 kb at the human muscle glycogen phosphorylase (PYGM) locus can be amplified by PCR and have combined informativeness of PIC 0.95. Genomics 13: 7-15, 1992.
[0013396]3984.Iyengar, S.; Kalinsky, H.; Weiss, S.; Korostishevsky, M.; Sadeh, M.; Zhao, Y.; Kidd, K. K.; Bonne-Tamir, B.: Homozygosity by descent for a rare mutation in the myophosphorylase gene is associated with variable phenotypes in a Druze family with McArdle disease. J. Med. Genet. 34: 391-394, 1997.
[0013397]3985.Devlin, R.; Henderson, H.; Monsalve, V.; Brunzell, J.; Deeb, S.; Hayden, M. R.: The molecular biology of hypertriglyceridemia: characterization of mutations in patients with lipoprotein lipase deficiency.(Abstract) Am. J. Hum. Genet. 45 (suppl.): A4, 1989.
[0013398]3986.Pomponio, R. J.; Yamaguchi, A.; Arashima, S.; Hymes, J.; Wolf, B.: Mutation in a putative glycosylation site (N489T) of biotinidase in the only known Japanese child with biotinidase deficiency. Molec. Genet. Metab. 64: 152-154, 1998.
[0013399]3987.Chynn, E. W.; Walton, D. S.; Hahn, L. B.; Dryja, T. P.: Norrie disease: diagnosis of a simplex case by DNA analysis. Arch. Ophthal. 114: 1136-1138, 1996.
[0013400]3988.Thomas, S. A.; Palmiter, R. D.: Impaired maternal behavior in mice lacking norepinephrine and epinephrine. Cell 91: 583-592, 1997.
[0013401]3989.Thomas, S. A.; Palmiter, R. D.: Thermoregulatory and metabolic phenotypes of mice lacking noradrenaline and adrenaline. Nature 387: 94-97, 1997.
[0013402]3990.Weinshilboum, R. M.: Catecholamine biochemical genetics in human populations.In: Breakefield, X. O.: Neurogenetics: Genetic Approaches to the Nervous System. New York: Elsevier/North Holland (pub.) 1979. Pp. 257-282.
[0013403]3991.Weinshilboum, R. M.; Schrott, H. G.; Raymond, F. A.; Weidman, W. H.; Elveback, L. R.: Inheritance of very low serum dopamine-beta-hydroxylase activity. Am. J. Hum. Genet. 27: 573-585, 1975.
[0013404]3992.Wilson, A. F.; Elston, R. C.; Siervogel, R. M.; Tran, L. D.: Linkage of a gene regulating dopamine-beta-hydroxylase activity and the ABO blood group locus. Am. J. Hum. Genet. 42: 160-166, 1988.
[0013405]3993.Wilson, A. F.; Elston, R. C.; Siervogel, R. M.; Tran, L. D.: Linkage of a gene regulating dopamine-beta-hydroxylase activity and the ABO blood group locus. (Abstract) Am. J. Hum. Genet. 41: A191 only, 1987.
[0013406]3994.Zabetian, C. P.; Anderson, G. M.; Buxbaum, S. G.; Elston, R. C.; Ichinose, H.; Nagatsu, T.; Kim, K.-S.; Kim, C.-H.; Malison, R. T.; Gelernter, J.; Cubells, J. F.: A quantitative-trait analysis of human plasma-dopamine beta-hydroxylase activity: evidence for a major functional polymorphism at the DBH locus. Am. J. Hum. Genet. 68: 515-522, 2001.
[0013407]3995.Schulz, P. E.; Weiner, S. P.; Belmont, J. W.; Fishman, M. A.: Basal ganglia calcifications in a case of biotinidase deficiency. Neurology 38: 1326-1328, 1988.
[0013408]3996.Suormala, T.; Wick, H.; Bonjour, J.-P.; Baumgartner, E. R.: Intestinal absorption and renal excretion of biotin in patients with biotinidase deficiency. Europ. J. Pediat. 144: 21-26, 1985.
[0013409]3997.Suormala, T. M.; Baumgartner, E. R.; Wick, H.; Scheibenreiter, S.; Schweitzer, S.: Comparison of patients with complete and partial biotinidase deficiency: biochemical studies. J. Inherit. Metab. Dis. 13: 76-92, 1990.
[0013410]3998.Swango, K. L.; Demirkol, M.; Huner, G.; Pronicka, E.; Sykut-Cegielska, J.; Schulze, A.; Wolf, B.: Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene. Hum. Genet. 102: 571-575, 1998.
[0013411]3999.Taitz, L. S.; Green, A.; Strachan, I.; Bartlett, K.; Bennet, M. : Biotinidase deficiency and the eye and ear. (Letter) Lancet II: 918 only, 1983.
[0013412]4000.Thoene, J.; Wolf, B.: Biotinidase deficiency in juvenile multiple carboxylase deficiency. (Letter) Lancet II: 398 only, 1983.
[0013413]4001.Thoene, J. G.; Lemons, R. M.; Borysko, K. Z.; Baker, H.: Juvenile multiple carboxylase deficiency: evidence of impaired biotin absorption. (Abstract) Pediat. Res. 16: 179A only, 1982.
[0013414]4002.Thuy, L. P.; Zielinska, B.; Zammarchi, E.; Pavari, E.; Vierucci, A.; Sweetman, F.; Sweetman, L.; Nyhan, W. L.: Multiple carboxylase deficiency due to deficiency of biotinidase. J. Neurogenet. 3: 357-363, 1986.
[0013415]4003.Tokatli, A.; Coskun, T.; Ozalp, I.; Gunay, M.: The major presenting symptom in a biotinidase-deficient patient: laryngeal stridor. J. Inherit. Metab. Dis. 15: 281-282, 1992.
[0013416]4004.Wallace, S. J.: Biotinidase deficiency: presymptomatic treatment. Arch. Dis. Child. 60: 574-575, 1985.
[0013417]4005.Wastell, H. J.; Bartlett, K.; Dale, G.; Shein, A.: Biotinidase deficiency: a survey of 10 cases. Arch. Dis. Child. 63: 1244-1249, 1988.
[0013418]4006.Weissbecker, K. A.; Nance, W. E.; Eaves, L. J.; Piussan, C.; Wolf, B.: Statistical approaches for the detection of heterozygotes for biotinidase deficiency. Am. J. Med. Genet. 39: 385-390, 1991.
[0013419]4007.Wolf, B.; Grier, R. E.; Heard, G. S.: Hearing loss in biotinidase deficiency. (Letter) Lancet II: 1365-1366, 1983.
[0013420]4008.Wolf, B.; Grier, R. E.; Parker, W. D., Jr.; Goodman, S. I.; Allen, R. J.: Deficient biotinidase activity in late-onset multiple carboxylase deficiency. (Letter) New Eng. J. Med. 308: 161, 1983.
[0013421]4009.Wolf, B.; Grier, R. E.; Secor McVoy, J. R.; Heard, G. S.: Biotinidase deficiency: a novel vitamin recycling defect. J. Inherit. Metab. Dis. 8 (suppl. 1): 53-58, 1985.
[0013422]4010.Wolf, B.; Heard, G. S.; Jefferson, L. G.; Proud, V. K.; Nance, W. E.; Weissbecker, K. A.: Clinical findings in four children with biotinidase deficiency detected through a statewide neonatal screening program. New Eng. J. Med. 313: 16-19, 1985.
[0013423]4011.Wolf, B.; Heard, G. S.; Weissbecker, K. A.; Secor McVoy, J. R.; Grier, R. E.; Leshner, R. T.: Biotinidase deficiency: initial clinical features and rapid diagnosis. Ann. Neurol. 18: 614-617, 1985.
[0013424]4012.Wolf, B.; Norrgard, K.; Pomponio, R. J.; Mock, D. M.; McVoy, J. R. S.; Fleischhauer, K. Shapiro, S.; Blitzer, M. G.; Hymes, J.: Profound biotinidase deficiency in two asymptomatic adults. Am. J. Med. Genet. 73: 5-9, 1997.
[0013425]4013.Aoki, Y.; Li, X.; Sakamoto, O.; Hiratsuka, M.; Akaishi, H.; Xu, L.; Briones, P.; Suormala, T.; Baumgartner, E. R.; Suzuki, Y.; Narisawa, K.: Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency. Hum. Genet. 104: 143-148, 1999.
[0013426]4014.Bartlett, K.; Ghneim, H. K.; Stirk, H.-J.; Wastell, H.: Enzyme studies in biotinresponsive disorders. J. Inherit. Metab. Dis. 8 (suppl. 1): 46-52, 1985.
[0013427]4015.Burri, B. J.; Sweetman, L.; Nyhan, W. L.: Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency. J. Clin. Invest. 68: 1491-1495, 1981.
[0013428]4016.Burri, B. J.; Sweetman, L.; Nyhan, W. L.: Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency. Am. J. Hum. Genet. 37: 326-337, 1985.
[0013429]4017.Dupuis, L.; Leon-Del-Rio, A.; Leclerc, D.; Campeau, E.; Sweetman, L.; Saudubray, J. M.; Herman, G.; Gibson, K. M.; Gravel, R. A.: Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency. Hum. Molec. Genet. 5: 1011-1016, 1996.
[0013430]4018.Feldman, G. L.; Hsia, Y. E.; Wolf, B.: Biochemical characterization of biotin-responsive multiple carboxylase deficiency: heterogeneity within the bio genetic complementation group. Am. J. Hum. Genet. 33: 692-701, 1981.
[0013431]4019.Leon-Del-Rio, A.; Leclerc, D.; Akerman, B.; Wakamatsu, N.; Gravel, R. A.: Isolation of a cDNA encoding human holocarboxylase synthetase by functional complementation of a biotin auxotroph of Escherichia coli. Proc. Nat. Acad. Sci. 92: 4626-4630, 1995.
[0013432]4020.Mock, D. M.; deLorimer, A. A.; Liebman, W. M.; Sweetman, L.; Baker, H.: Biotin deficiency: an unusual complication of parenteral alimentation. New Eng. J. Med. 304: 820-822, 1981.
[0013433]4021.Morrone, A.; Malvagia, S.; Donati, M. A.; Funghini, S.; Ciani, F.; Pela, I.; Boneh, A.; Peters, H.; Pasquini, E.; Zammarchi, E.: Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency. Am. J. Med. Genet. 111: 10-18, 2002.
[0013434]4022.Munnich, A.; Saudubray, J. M.; Carre, G.; Coude, F. X.; Ogier, H.; Charpentier, C.; Frezal, J.: Defective biotin absorption in multiple carboxylase deficiency. (Letter) Lancet II: 263, 1981.
[0013435]4023.Narisawa, K.; Arai, N.; Igarashi, Y.; Satoh, T.; Tada, K.: Clinical and biochemical findings on a child with multiple biotin-responsive carboxylase deficiencies. J. Inherit. Metab. Dis. 5: 67-68, 1982.
[0013436]4024.Packman, S.; Caswell, N.; Gonzalez-Rios, M. C.; Kadlecek, T.; Cann, H.; Rassin, D.; McKay, C.: Acetyl CoA carboxylase in cultured fibroblasts: differential biotin dependence in the two types of biotin-responsive multiple carboxylase deficiency. Am. J. Hum. Genet. 36: 80-92, 1984.
[0013437]4025.Monros, E.; Molto, M. D.; Martinez, F.; Canizares, J.; Blanca, J.; Vilchez, J. J.; Prieto, F.; de Frutos, R.; Palau, F.: Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat. Am. J. Hum. Genet. 61: 101-110, 1997.
[0013438]4026.Montermini, L.; Andermann, E.; Labuda, M.; Richter, A.; Pandolfo, M.; Cavalcanti, F.; Pianese, L.; Iodice, L.; Farina, G.; Monticelli, A.; Turano, M.; Filla, A.; De Michele, G.; Cocozza, S.: The Friedreich ataxia GAA triplet repeat: premutation and normal alleles. Hum. Molec. Genet. 6: 1261-1266, 1997.
[0013439]4027.Ohshima, K.; Montermini, L.; Wells, R. D.; Pandolfo, M.: Inhibitory effects of expanded GAA-TTC triplet repeats from intron I of the Friedreich ataxia gene on transcription and replication in vivo. J. Biol. Chem. 273: 14588-14595, 1998.
[0013440]4028.Pianese, L.; Cavalcanti, F.; De Michele, G.; Filla, A.; Campanella, G.; Calabrese, O.; Castaldo, I.; Monticelli, A.; Cocozza, S.: The effect of parental gender on the GAA dynamic mutation in the FRDA gene. (Letter) Am. J. Hum. Genet. 60: 460-463, 1997.
[0013441]4029.Puccio, H.; Koenig, M.: Recent advances in the molecular pathogenesis of Friedreich ataxia. Hum. Molec. Genet. 9: 887-892, 2000.
[0013442]4030.Rodius, F.; Duclos, F.; Wrogemann, K.; Le Paslier, D.; Ougen, P.; Billault, A.; Belal, S.; Musenger, C.; Brice, A.; Durr, A.; Mignard, C.; Sirugo, G.; Weissenbach, J.; Cohen, D.; Hentati, F.; Ben Hamida, M.; Mandel, J.-L.; Koenig, M.: Recombinations in individuals homozygous by descent localize the Friedreich ataxia locus in a cloned 450-kb interval. Am. J. Hum. Genet. 54: 1050-1059, 1994.
[0013443]4031.Roca, B.; Calabuig, C.; Sastre, J.; Arenas, M.: Hereditary xanthinuria and Ehlers-Danlos syndrome. J. Inherit. Metab. Dis. 15: 881-882, 1992.
[0013444]4032.Rosenfeld, E. L.; Popova, I. A.; Chibisov, I. V.: Some cases of type III glycogen storage disease. Clin. Chim. Acta 67: 123-130, 1976.
[0013445]4033.Santer, R.; Kinner, M.; Steuerwald, U.; Kjaergaard, S.; Skovby, F.; Simonsen, H.; Shaiu, W.-L.; Chen, Y.-T.; Schneppenheim, R.; Schaub, J.: Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands. Europ. J. Hum. Genet. 9: 388-391, 2001.
[0013446]4034.Shaiu, W.-L.; Kishnani, P. S.; Shen, J.; Liu, H.-M.; Chen, Y.-T. : Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease. Molec. Genet. Metab. 69: 16-23, 2000.
[0013447]4035.Shen, J,; Bao, Y.; Chen, Y.-T.: A nonsense mutation due to a single base insertion in the 3-prime-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa. Hum. Mutat. 9: 37-40, 1997.
[0013448]4036.Shen, J.; Bao, Y.; Liu, H.-M.; Lee, P.; Leonard, J. V.; Chen, Y.-T.: Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle. J. Clin. Invest. 98: 352-357, 1996.
[0013449]4037.Shen, J.; Liu, H.-M.; Bao, Y.; Chen, Y.-T.: Polymorphic markers of the glycogen debranching enzyme gene allowing linkage analysis in families with glycogen storage disease type III. J. Med. Genet. 34: 34-38, 1997.
[0013450]4038.Slonim, A. E.; Weisberg, C.; Benke, P.; Evans, O. B.; Burr, I. M.: Reversal of debrancher deficiency myopathy by the use of high-protein nutrition. Ann. Neurol. 11: 420-422, 1982.
[0013451]4039.van Creveld, S.: Over een bijzondere stoornis in de koolhydraatstof-Wisseling in den kinderleeftijd. Nederl. Maandschr. Geneesk 8: 349-359, 1928.
[0013452]4040.von Gierke, E.: Hepato-nephromegalia glykogenica (Glykogenspeicherkrankheit der Leber und Nieren.). Beitr. Path. Anat. 82: 497-513, 1929.
[0013453]4041.Waaler, P. E.; Garatun-Tjeldsto, O.; Moe, P. J.: Genetic studies in glycogen storage disease type III. Acta Paediat. Scand. 59: 529-535, 1970.
[0013454]4042.Yang, B.-Z.; Ding, J.-H.; Bao, Y.; Eason, J. F. M.; Chen, Y.-T. : Molecular basis of the enzymatic variability in type III glycogen storage disease (GSD-III). (Abstract) Am. J. Hum. Genet. 51 (suppl.): A28, 1992.
[0013455]4043.Yang, B. Z.; Ding, J. H.; Enghild, J. J.; Bao, Y.; Chen, Y. T. : Molecular cloning and nucleotide sequence of cDNA encoding human muscle glycogen debranching enzyme. J. Biol. Chem. 267: 9294-9299, 1992.
[0013456]4044.Yang-Feng, T. L.; Zheng, K.; Yu, J.; Yang, B.-Z.; Chen, Y.-T.; Kao, F.-T.: Assignment of the human glycogen debrancher gene to chromosome 1p21. Genomics 13: 931-934, 1992.
[0013457]4045.Alegria, A.; Martins, E.; Dias, M.; Cunha, A.; Cardoso, M. L.; Maire, I.: Glycogen storage disease type IV presenting as hydrops fetalis. J. Inherit. Metab. Dis. 22: 330-332, 1999.
[0013458]4046.Bannayan, G. A.; Dean, W. J.; Howell, R. R.: Type IV glycogen-storage disease: lightmicroscopic and enzymatic study. Am. J. Clin. Path. 66: 702-709, 1976.
[0013459]4047.Bao, Y.; Kishnani, P.; Wu, J.-Y.; Chen, Y.-T.: Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. J. Clin. Invest. 97: 941-948, 1996.
[0013460]4048.Brown, B. I.; Brown, D. H.: Branching enzyme activity of cultured amniocytes and chorionic villi: prenatal testing for type IV glycogen storage disease. Am. J. Hum. Genet. 44: 378-381, 1989.
[0013461]4049.Bruno, C.; DiRocco, M.; Lamba, L. D.; Bado, M.; Marino, C.; Tsujino, S.; Shanske, S.; Stella, G.; Minetti, C.; van Diggelen, O. P.; DiMauro, S.: A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy. Neuromusc. Disord. 9: 403-407, 1999.
[0013462]4050.Cox, P. M.; Brueton, L. A.; Murphy, K. W.; Worthington, V. C.; Bjelogrlic, P.; Lazda, E. J.; Sabire, N. J.; Sewry, C. A.: Early-onset fetal hydrops and muscle degeneration in siblings due to a novel variant of type IV glycogenosis. Am. J. Med. Genet. 86: 187-193, 1999.
[0013463]4051.Ferguson, I. T.; Mahon, M.; Cumming, W. J. K.: An adult case of Andersen's disease--type IV glycogenosis: a clinical, histochemical, ultrastructural and biochemical study. J. Neurol. Sci. 60: 337-351, 1983.
[0013464]4052.Greene, G. M.; Weldon, D. C.; Ferrans, V. J.; Cheatham, J. P.; McComb, R. D.; Brown, B. I.; Gumbiner, C. H.; Vanderhoff, J. A.; Itkin, P. G.; McManus, B. M.: Juvenile polysaccharidosis with cardioskeletal myopathy. Arch. Path. Lab. Med. 111: 977-982, 1987.
[0013465]4053.Guerra, A. S.; van Diggelen, O. P.; Carneiro, F.; Tsou, R. M.; Simoes, S.; Santos, N. T.: A juvenile variant of glycogenosis IV (Andersen disease). Europ. J. Pediat. 145: 179-181, 1986.
[0013466]4054.Howell, R. R.: Continuing lessons from glycogen storage diseases. (Editorial) New Eng. J. Med. 324: 55-56, 1991.
[0013467]4055.Howell, R. R.; Kaback, M. M.; Brown, B. I.: Type IV glycogen storage disease: branching enzyme deficiency in skin fibroblasts and possible heterozygote detection. J. Pediat. 78: 638-642, 1971.
[0013468]4056.Levin, B.; Burgess, E. A.; Mortimer, P. E.: Glycogen storage disease type IV, amylopectinosis. Arch. Dis. Child. 43: 548-555, 1968.
[0013469]4057.McMaster, K. R.; Powers, J. M.; Hennigar, G. R., Jr.; Wohltmann, H. J.; Farr, G. H., Jr.: Nervous system involvement in type IV glycogenosis. Arch. Path. Lab. Med. 103: 105-111, 1979.
[0013470]4058.Reusche, E.; Aksu, F.; Goebel, H. H.; Shin, Y. S.; Yokota, T.; Reichmann, H.: A mild juvenile variant of type IV glycogenosis. Brain Dev. 14: 36-43, 1992.
[0013471]4059.Schochet, S. S., Jr.; McCormick, W. F.; Zellweger, H.: Type IV glycogenosis (amylopectinosis): light and electron microscopic observations. Arch. Path. 90: 354-363, 1970.
[0013472]4060.Schroder, J. M.; May, R.; Shin, Y. S.; Sigmund, M.; Nase-Huppmeier, S.: Juvenile hereditary polyglucosan body disease with complete branching enzyme deficiency (type IV glycogenosis). Acta Neuropath. 85: 419-430, 1993.
[0013473]4061.Selby, R.; Starzl, T. E.; Yunis, E.; Brown, B. I.; Kendall, R. S.; Tzakis, A.: Liver transplantation for type IV glycogen storage disease. New Eng. J. Med. 324: 39-42, 1991.
[0013474]4062.Lorenzi, M. V.; Horii, Y.; Yamanaka, R.; Sakaguchi, K.; Miki, T. : FRAG1, a gene that potently activates fibroblast growth factor receptor by C-terminal fusion through chromosomal rearrangement. Proc. Nat. Acad. Sci. 93: 8956-8961, 1996.
[0013475]4063.Macdonald, D.; Aguiar, R. C.; Mason, P. J.; Goldman, J. M.; Cross, N. C.: A new myeloproliferative disorder associated with chromosomal translocations involving 8p11: a review. Leukemia 9: 1628-1630, 1995.
[0013476]4064.Muenke, M.; Schell, U.; Hehr, A.; Robin, N. H.; Losken, H. W.; Schinzel, A.; Pulleyn, L. J.; Rutland, P.; Reardon, W.; Malcolm, S.; Winter, R. M.: A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. Nature Genet. 8: 269-274, 1994.
[0013477]4065.Popovici, C.; Adelaide, J.; Ollendorff, V.; Chaffanet, M.; Guasch, G.; Jacrot, M.; Leroux, D.; Birnbaum, D.; Pebusque, M.-J.: Fibroblast growth factor receptor 1 is fused to FIM in stemcell myeloproliferative disorder with t(8;13)(p12;q12). Proc. Nat. Acad. Sci. 95: 5712-5717, 1998.
[0013478]4066.Popovici, C.; Zhang, B.; Gregoire, M.-J.; Jonveaux, P.; Lafage-Pochitaloff, M.; Birnbaum, D.; Pebusque, M.-J.: The t(6;8)(q27;p11) translocation in a stem cell myeloproliferative disorder fuses a novel gene, FOP, to fibroblast growth factor receptor 1. Blood 93: 1381-1389, 1999.
[0013479]4067.Robin, N. H.; Feldman, G. J.; Mitchell, H. F.; Lorenz, P.; Wilroy, R. S.; Zackai, E. H.; Allanson, J. E.; Reich, E. W.; Pfeiffer, R. A.; Clarke, L. A.; Warman, M. L.; Mulliken, J. B.; Brueton, L. A.; Winter, R. M.; Price, R. A.; Gasser, D. L.; Muenke, M.: Linkage of Pfeiffer syndrome to chromosome 8 centromere and evidence for genetic heterogeneity. Hum. Molec. Genet. 3: 2153-2158, 1994.
[0013480]4068.Ruta, M.; Burgess, W.; Givol, D.; Epstein, J.; Neiger, N.; Kaplow, J.; Crumley, G.; Dionne, C.; Jaye, M.; Schlessinger, J.: Receptor for acidic fibroblast growth factor is related to the tyrosine kinase encoded by the FMS-like gene (FLG). Proc. Nat. Acad. Sci. 86: 8722-8726, 1989.
[0013481]4069.Ruta, M.; Howk, R.; Ricca, G.; Drohan, W.; Zabelshansky, M.; Laureys, G.; Barton, D. E.; Francke, U.; Schlessinger, J.; Givol, D.: A novel protein tyrosine kinase gene whose expression is modulated during endothelial cell differentiation. Oncogene 3: 9-15, 1988.
[0013482]4070.Sohal, J.; Chase, A.; Mould, S.; Corcoran, M.; Oscier, D.; Iqbal, S.; Parker, S.; Welborn, J.; Harris, R. I.; Martinelli, G.; Montefusco, V.; Sinclair, P.; Wilkins, B. S.; van den Berg, H.; Vanstraelen, D.; Goldman, J. M.; Cross, N. C. P.: Identification of four new translocations involving FGFR1 in myeloid disorders. Genes Chromosomes Cancer 32: 155-163, 2001.
[0013483]4071.Thomas, W.; Rubenstein, M.; Goto, M.; Drayna, D.: A genetic analysis of the Werner syndrome region on human chromosome 8p. Genomics 16: 685-690, 1993.
[0013484]4072.Twigg, S. R. F.; Burns, H. D.; Oldridge, M.; Heath, J. K.; Wilkie, A. O. M.: Conserved use of a non-canonical 5-prime splice site (/GA) in alternative splicing by fibroblast growth factor receptors 1, 2 and 3. Hum. Molec. Genet. 7: 685-691, 1998.
[0013485]4073.Wang, L.-Y.; Edenson, S. P.; Yu, Y.-L.; Senderowicz, L.; Turck, C. W.: A natural kinase-deficient variant of fibroblast growth factor receptor 1. Biochemistry 35: 10134-10142, 1996.
[0013486]4074.Welm, B. E.; Freeman, K. W.; Chen, M.; Contreras, A.; Spencer, D. M.; Rosen, J. M.: Inducible dimerization of FGFR1: development of a mouse model to analyze progressive transformation of the mammary gland. J. Cell Biol. 157: 703-714, 2002.
[0013487]4075.Wilkie, A. O. M.; Morriss-Kay, G. M.: Genetics of craniofacial development and malformation. Nature Rev. Genet. 2: 458-468, 2001.
[0013488]4076.Wilkie, A. O. M.; Patey, S. J.; Kan, S.; van den Ouweland, A. M. W.; Hamel, B. C. J.: FGFs, their receptors, and human limb malformations: clinical and molecular correlations. Am. J. Med. Genet. 112: 266-278, 2002.
[0013489]4077.Wood, S.; Schertzer, M.; Yaremko, M. L.: Sequence identity locates CEBPD and FGFR1 to mapped human loci within proximal 8p. Cytogenet. Cell Genet. 70: 188-191, 1995.
[0013490]4078.Xiao, S.; Nalabolu, S. R.; Aster, J. C.; Ma, J.; Abruzzo, L.; Jaffe, E. S.; Stone, R.; Weissman, S. M.; Hudson, T. J.; Fletcher, J. A.: FGFR1 is fused with a novel zinc-finger gene, ZNF198, in the t(8;13) leukaemia/lymphoma syndrome. Nature Genet. 18: 84-87, 1998.
[0013491]4079.Zhou, Y.-X.; Xu, X.; Chen, L.; Li, C.; Brodie, S. G.; Deng, C.-X. : A Pro250Arg substitution in mouse Fgfr1 causes increased expression of Cbfa1 and premature fusion of calvarial sutures. Hum. Molec. Genet. 9: 2001-2008, 2000.
[0013492]4080.Wang, D.; Kranz-Eble, P.; De Vivo, D. C.: Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome. Hum. Mutat. 16: 224-231, 2000.
[0013493]4081.Xiang, K.; Cox, N. J.; Karam, J. H.; Bell, G. I.: Bgl II RFLP at the human erythrocyte/HepG2-type glucose transporter (GLUT) locus on chromosome 1. Nucleic Acids Res. 15: 9101 only, 1987.
[0013494]4082.Andersson, S. M.; Pispa, J. P.: Purification and properties of human liver tyrosine aminotransferase. Clin. Chim. Acta 125: 117-123, 1982.
[0013495]4083.Barton, D. E.; Yang-Feng, T. L.; Francke, U.: The human tyrosine aminotransferase gene mapped to the long arm of chromosome 16 (region 16q22-q24) by somatic cell hybrid analysis and in situ hybridization. Hum. Genet. 72: 221-224, 1986.
[0013496]4084.Chen, S.-H.; Giblett, E. R.: Genetic variation of soluble glutamic-oxaloacetic transaminase in man. Am. J. Hum. Genet. 23: 419-424, 1971.
[0013497]4085.Craig, I. W.; Tolley, E.; Bobrow, M.; van Heyningen, V.: Assignment of a gene necessary for the expression of mitochondrial glutamic-oxaloacetic transaminase in human-mouse hybrid cells. Cytogenet. Cell Genet. 22: 190-194, 1978.
[0013498]4086.Davidson, R. G.; Cortner, J. A.; Rattazzi, M. C.; Ruddle, F. H.; Lubs, H. A.: Genetic polymorphisms of human mitochondrial glutamic oxaloacetic transaminase. Science 169: 391-392, 1970.
[0013499]4087.DeLorenzo, R. J.; Ruddle, F. H.: Glutamate transaminase (GOT) genetics in mus musculus: linkage, polymorphism, and phenotypes of the GOT-2 and GOT-1 loci. Biochem. Genet. 4: 259-273, 1970.
[0013500]4088.Francke, U.; Weitkamp, L. R.: Report of the committee on the genetic constitution of chromosome 6. Cytogenet. Cell Genet. 25: 32-38, 1979.
[0013501]4089.Jeremiah, S. J.; Povey, S.; Burley, M. W.; Kielty, C.; Lee, M.; Spowart, G.; Corney, G.; Cook, P. J. L.: Mapping studies on human mitochondrial glutamate oxaloacetate transaminase. Ann. Hum. Genet. 46: 145-152, 1982.
[0013502]4090.Pol, S.; Bousquet-Lemercier, B.; Pave-Preux, M.; Bulle, F.; Passage, E.; Hanoune, J.; Mattei, M. G.; Barouki, R.: Chromosomal localization of human aspartate aminotransferase genes by in situ hybridization. Hum. Genet. 83: 159-164, 1989.
[0013503]4091.Pol, S.; Bousquet-Lemercier, B.; Pave-Preux, M.; Pawlak, A.; Nalpas, B.; Berthelot, P.; Hanoune, J.; Barouki, R.: Nucleotide sequence and tissue distribution of the human mitochondrial aspartate aminotransferase mRNA. Biochem. Biophys. Res. Commun. 157: 1309-1315, 1988.
[0013504]4092.Tolley, E.; van Heyningen, V.; Brown, R.; Bobrow, M.; Craig, I. W.: Assignment to chromosome 16 of a gene necessary for the expression of human mitochondrial glutamate oxaloacetate transaminase (aspartate aminotransferase) (E.C. 2.6.1.1). Biochem. Genet. 18: 947-954, 1980.
[0013505]4093.Toyomasu, T.; Sakakibara, S.; Kagamiyama, H.; Matsumoto, H.: Genetic polymorphism of mitochondrial glutamate-oxaloacetate transaminase in Japanese. Hum. Genet. 66: 90-91, 1984.
[0013506]4094.Akagi, M.; Inui, K.; Nakajima, S.; Shima, M.; Nishigaki, T.; Muramatsu, T.; Kokubu, C.; Tsukamoto, H.; Sakai, N.; Okada, S.: Mutation analysis of two Japanese patients with Fanconi-Bickel syndrome. J. Hum. Genet. 45: 60-62, 2000.
[0013507]4095.Aperia, A.; Bergqvist, G.; Linne, T.; Zetterstrom, R.: Familial Fanconi syndrome with malabsorption and galactose intolerance, normal kinase and transferase activity: a report on two siblings. Acta Paediat. Scand. 70: 527-533, 1981.
[0013508]4096.Baroni, M. G.; Alcolado, J. C.; Pozzilli, P.; Cavallo, M. G.; Li, S. R.; Galton, D. J.: Polymorphisms at the GLUT2 (beta-cell/liver) glucose transporter gene and non-insulin-dependent diabetes mellitus (NIDDM): analysis in affected pedigree members. Clin. Genet. 41: 229-234, 1992.
[0013509]4097.Berry, G. T.; Baker, L.; Kaplan, F. S.; Witzleben, C. L.: Diabetes-like renal glomerular disease in Fanconi-Bickel syndrome. Pediat. Nephrol. 9: 287-291, 1995.
[0013510]4098.Burwinkel, B.; Sanjad, S. A.; Al-Sabban, E.; Al-Abbad, A.; Kilimann, M. W.: A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity. Hum. Genet. 105: 240-243, 1999.
[0013511]4099.Efrat, S.: Making sense of glucose sensing. Nature Genet. 17: 249-250, 1997.
[0013512]4100.Fanconi, G.; Bickel, H.: Die chronische Aminoazidurie (Aminoaeurendiabetes oder nephrotisch-glukosurischer Zwergwuchs) bei der Glykogenose und der Cystinkrankheit. Helv. Paediat. Acta 4: 359-396, 1949.
[0013513]4101.Fukumoto, H.; Seino, S.; Imura, H.; Seino, Y.; Eddy, R. L.; Fukushima, Y.; Byers, M. G.; Shows, T. B.; Bell, G. I.: Sequence, tissue distribution, and chromosomal localization of mRNA encoding a human glucose transporter-like protein. Proc. Nat. Acad. Sci. 85: 5434-5438, 1988.
[0013514]4102.Garcia, J. C.; Strube, M.; Leingang, K.; Keller, K.; Mueckler, M.: Amino acid substitutions at tryptophan 388 and tryptophan 412 of the HepG2 (Glut1) glucose transporter inhibit transport activity and targeting to the plasma membrane in Xenopus oocytes. J. Biol. Chem. 267: 7770-7776, 1992.
[0013515]4103.Gitzelmann, R.: Glukagonprobleme bei den Glykogenspeicherkrankheiten. Helv. Paediat. Acta 12: 425-479, 1957.
[0013516]4104.Guillam, M.-T.; Hummler, E.; Schaerer, E.; Wu, J.-Y.; Birnbaum, M. J.; Beermann, F.; Schmidt, A.; Deriaz, N.; Thorens, B.: Early diabetes and abnormal postnatal pancreatic islet development in mice lacking Glut-2. Nature Genet. 17: 327-330, 1997.
[0013517]4105.Holman, G. D.: Side-specific photolabelling of the hexose transporter. Biochem. Soc. Trans. 17: 438-440, 1989.
[0013518]4106.Ishihara, H.; Asano, T.; Katagiri, H.; Lin, J.-L.; Tsukuda, K.; Shibasaki, Y.; Yazaki, Y.; Oka, Y.: The glucose transport activity of GLUT1 is markedly decreased by substitution of a single amino acid with a different charge at residue 415. Biochem. Biophys. Res. Commun. 176: 922-930, 1991.
[0013519]4107.Katagiri, H.; Asano, T.; Shibasaki, Y.; Lin, J.-L.; Tsukuda, K.; Ishihara, H.; Akanuma, Y.; Takaku, F.; Oka, Y.: Substitution of leucine for tryptophan 412 does not abolish cytochalasin B labelling but markedly decreases the intrinsic activity of GLUT1 glucose transporter. J. Biol. Chem. 266: 7769-7773, 1991.
[0013520]4108.Lee, P. J.; Van't Hoff, W. G.; Leonard, J. V.: Catch-up growth in Fanconi-Bickel syndrome with uncooked cornstarch. J. Inherit. Metab. Dis. 18: 153-156, 1995.
[0013521]4109.Maiden, M. C. J.; Davis, E. O.; Baldwin, S. A.; Moore, D. C. M.; Henderson, P. J. F.: Mammalian and bacterial sugar transport proteins are homologous. Nature 325: 641-643, 1987.
[0013522]4110.Rimoin, D. L.; Phillips, J. A., III: Genetic disorders of the pituitary gland.In: Rimoin, D. L.; Connor, J. M.; Pyeritz, R. E. (eds.) : Principles and Practice of Medical Genetics. Vol. I. New York: Churchill Livingstone (3rd ed.): 1997. Pp. 1331-1364.
[0013523]4111.Rosenfeld, R. G: Editorial: is growth hormone deficiency a viable diagnosis? J. Clin. Endocr. Metab. 82: 349-351, 1997.
[0013524]4112.Ruddle, F. H.: Personal Communication. New Haven, Conn. 2/7/1982.
[0013525]4113.Saitoh, H.; Fukushima, T.; Kamoda, T.; Tanae, A.; Kamijo, T.; Yamamoto, M.; Ogawa, M.; Hayashi, Y.; Ohmori, S.; Seo, H.: A Japanese family with autosomal dominant growth hormone deficiency. Europ. J. Pediat. 158: 624-627, 1999.
[0013526]4114.Sirand-Pugnet, P.; Durosay, P.; Brody, E.; Marie, J.: An intronic (A/U)GGG repeat enhances the splicing of an alternative intron of the chicken beta-tropomyosin pre-mRNA. Nucleic Acids Res. 23: 3501-3507, 1995.
[0013527]4115.Smith, L. E. H.; Kopchick, J. J.; Chen, W.; Knapp, J.; Kinose, F.; Daley, D.; Foley, E.; Smith, R. G.; Schaeffer, J. M.: Essential role of growth hormone in ischemia-induced retinal neovascularization. Science 276: 1706-1709, 1997.
[0013528]4116.Sundstrom, M.; Lundqvist, T.; Rodin, J.; Giebel, L. B.; Milligan, D.; Norstedt, G.: Crystal structure of an antagonist mutant of human growth hormone, G120R, in complex with its receptor at 2.9 angstrom resolution. J. Biol. Chem. 271: 32197-32203, 1996.
[0013529]4117.Takahashi, I.; Takahashi, T.; Komatsu, M.; Sato, T.; Takada, G. : An exonic mutation of the GH-1 gene causing familial isolated growth hormone deficiency type II. Clin. Genet. 61: 222-225, 2002.
[0013530]4118.Takahashi, Y.; Kaji, H.; Okimura, Y.; Goji, K.; Abe, H.; Chihara, K.: Short stature caused by a mutant growth hormone. New Eng. J. Med. 334: 432-436, 1996. Note: Erratum: New Eng. J. Med. 334: 1207 only, 1996.
[0013531]4119.Takahashi, Y.; Shirono, H.; Arisaka, O.; Takahashi, K.; Yagi, T.; Koga, J.; Kaji, H.; Okimura, Y.; Abe, H.; Tanaka, T.; Chihara, K.: Biologically inactive growth hormone caused by an amino acid substitution. J. Clin. Invest. 100: 1159-1165, 1997.
[0013532]4120.Tillmann, V.; Buckler, J. M. H.; Kibirige, M. S.; Price, D. A.; Shalet, S. M.; Wales, J. K. H.; Addison, M. G.; Gill, M. S.; Whatmore, A. J.; Clayton, P. E.: Biochemical tests in the diagnosis of childhood growth hormone deficiency. J. Clin. Endocr. Metab. 82: 531-535, 1997.
[0013533]4121.Tobiume, H.; Kanzaki, S.; Hida, S.; Ono, T.; Moriwake, T.; Yamauchi, S.; Tanaka, H.; Seino, Y.: Serum bone alkaline phosphatase isoenzyme levels in normal children and children with growth hormone (GH) deficiency: a potential marker for bone formation and response to GH therapy. J. Clin. Endocr. Metab. 82: 2056-2061, 1997.
[0013534]4122.Valenta, L. J.; Sigel, M. B.; Lesniak, M. A.; Elias, A. N.; Lewis, U. J.; Friesen, H. G.; Kershnar, A. K.: Pituitary dwarfism in a patient with circulating abnormal growth hormone polymers. New Eng. J. Med. 312: 214-217, 1985.
[0013535]4123.Vnencak-Jones, C. L.; Phillips, J. A., III; Chen, E. Y.; Seeburg, P. H.: Molecular basis of human growth hormone gene deletions. Proc. Nat. Acad. Sci. 85: 5615-5619, 1988.
[0013536]4124.Tsuji, S.; Kobayashi, H.; Uchida, Y.; Ihara, Y.; Miyatake, T.: Molecular cloning of human growth inhibitory factor cDNA and its down-regulation in Alzheimer's disease. EMBO J. 11: 4843-4850, 1992.
[0013537]4125.Uchida, Y.; Takio, K.; Titani, K.; Ihara, Y.; Tomonaga, M.: The growth inhibitory factor that is deficient in the Alzheimer's disease brain is a 68 amino acid metallothionein-like protein. Neuron 7: 337-347, 1991.
[0013538]4126.Hoshino, S.; Miyazawa, H.; Enomoto, T.; Hanaoka, F.; Kikuchi, Y.; Kikuchi, A.; Ui, M.: A human homologue of the yeast GST1 gene codes for a GTP-binding protein and is expressed in a proliferation-dependent manner in mammalian cells. EMBO J. 8: 3807-3814, 1989.
[0013539]4127.Kikuchi, Y.; Shimatake, H.; Kikucki, A.: A yeast gene required for the G1-to-S transition encodes a protein containing an A-kinase target site and GTPase domain. EMBO J. 7: 1175-1182, 1988.
[0013540]4128.Ozawa, K.; Murakami, Y.; Eki, T.; Yokoyama, K.; Soeda, E.; Hoshino, S.; Ui, M.; Hanaoka, F.: Mapping of the human GSPT1 gene, a human homolog of the yeast GST1 gene, to chromosomal band 16p13.1. Somat. Cell Molec. Genet. 18: 189-194, 1992.
[0013541]4129.Harris, H.; Hopkinson, D. A.; Robson, E. B.: The incidence of rare alleles determining electrophoretic variants: data on 43 enzyme loci in man. Ann. Hum. Genet. 37: 237-253, 1974.
[0013542]4130.Brady, W. A.; Kokoris, M. S.; Fitzgibbon, M.; Black, M. E.: Cloning, characterization, and modeling of mouse and human guanylate kinases. J. Biol. Chem. 271: 16734-16740, 1996.
[0013543]4131.Dallapiccola, B.; Lungarotti, M. S.; Falorni, A.; Magnani, M.; Dacha, M.: Evidence for the assignment of GUK1 gene locus to 1q32-q43 segment from gene dosage effect. Ann. Genet. 23: 83-85, 1980.
[0013544]4132.Molchanova, T. P.; Postnikov, Y. V.; Gu, L.-H.; Huisman, T. H. J.: Hb A(2)-Grovetown or alpha (2) delta (2) 75 (E19) leu-to-val. (Letter) Hemoglobin 17: 289-291, 1993.
[0013545]4133.Neeb, H.; Beiboer, J. L.; Jonxis, J. H.; Kaars-Sijpesteijn, J. A.; Muller, C. J.: Homozygous Lepore haemoglobin disease appearing as thalassaemia major in two Papuan siblings. Trop. Geogr. Med. 13: 207-215, 1961.
[0013546]4134.Kajiwara, K.; Berson, E. L.; Dryja, T. P.: Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science 264: 1604-1608, 1994.
[0013547]4135.Kajiwara, K.; Hahn, L. B.; Mukai, S.; Travis, G. H.; Berson, E. L.; Dryja, T. P.: Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Nature 354: 480-483, 1991.
[0013548]4136.Kajiwara, K.; Sandberg, M. A.; Berson, E. L.; Dryja, T. P.: A null mutation in the human RDS/peripherin gene in a family with autosomal dominant retinitis punctata albescens. (Abstract) Am. J. Hum. Genet. 51 (suppl.): A6 only, 1992.
[0013549]4137.Kajiwara, K.; Sandberg, M. A.; Berson, E. L.; Dryja, T. P.: A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens. Nature Genet. 3: 208-212, 1993.
[0013550]4138.Kedzierski, W.; Nusinowitz, S.; Birch, D.; Clarke, G.; McInnes, R. R.; Bok, D.; Travis, G. H.: Deficiency of rds/peripherin causes photoreceptor death in mouse models of digenic and dominant retinitis pigmentosa. Proc. Nat. Acad. Sci. 98: 7718-7723, 2001.
[0013551]4139.Keen, T. J.; Inglehearn, C. F.: Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration. Hum. Mutat. 8: 297-303, 1996.
[0013552]4140.Kikawa, E.; Nakazawa, M.; Chida, Y.; Shiono, T.; Tamai, M.: A novel mutation (asn244-to-lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's-eye maculopathy detected by nonradioisotopic SSCP. Genomics 20: 137-139, 1994.
[0013553]4141.Kim, R. Y.; Dollfus, H.; Keen, T. J.; Fitzke, F. W.; Arden, G. B.; Bhattacharya, S. S.; Bird, A. C.: Autosomal dominant pattern dystrophy of the retina associated with a 4-base pair insertion at codon 140 in the peripherin/RDS gene. Arch. Ophthal. 113: 451-455, 1995.
[0013554]4142.Kohl, S.; Christ-Adler, M.; Apfelstedt-Sylla, E.; Kellner, U.; Eckstein, A.; Zrenner, E.; Wissinger, B.: RDS/peripherin gene mutations are frequent causes of central retinal dystrophies. J. Med. Genet. 34: 620-626, 1997.
[0013555]4143.Ma, J.; Norton, J. C.; Allen, A. C.; Burns, J. B.; Hasel, K. W.; Burns, J. L.; Sutcliffe, J. G.; Travis, G. H.: Retinal degeneration slow (rds) in mouse results from simple insertion of a t haplotypespecific element into protein-coding exon II. Genomics 28: 212-219, 1995.
[0013556]4144.Nichols, B. E.; Drack, A. V.; Vandenburgh, K.; Kimura, A. E.; Sheffield, V. C.; Stone, E. M.: A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea. Hum. Molec. Genet. 2: 601-603, 1993.
[0013557]4145.Nichols, B. E.; Sheffield, V. C.; Vandenburgh, K.; Drack, A. V.; Kimura, A. E.; Stone, E. M.: Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. Nature Genet. 3: 202-207, 1993.
[0013558]4146.Payne, A. M.; Downes, S. M.; Bessant, D. A. R.; Bird, A. C.; Bhattacharya, S. S.: Founder effect, seen in the British population, of the 172 peripherin/RDS mutation--and further refinement of genetic positioning of the peripherin/RDS gene. (Letter) Am. J. Hum. Genet. 192-195, 1998.
[0013559]4147.Pendleton, J. W.; Violette, S. M.; Hunihan, L. W.; Greene, L. A.; Ruddle, F. H.: The peripherin gene maps to mouse chromosome 15. Genomics 9: 369-372, 1991.
[0013560]4148.Reig, C.; Serra, A.; Gean, E.; Vidal, M.; Arumi, J.; De la Calzada, M. D.; Antich, J.; Carballo, M.: A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy. Ophthal. Genet. 16: 35-44, 1995.
[0013561]4149.Sarra, G.-M.; Stephens, C.; de Alwis, M.; Bainbridge, J. W. B.; Smith, A. J.; Thrasher, A. J.; Ali, R. R.: Gene replacement therapy in the retinal degeneration slow (rds) mouse: the effect on retinal degeneration following partial transduction of the retina. Hum. Molec. Genet. 10: 2353-2361, 2001.
[0013562]4150.Travis, G. H.; Brennan, M. B.; Danielson, P. E.; Kozak, C. A.; Sutcliffe, J. G.: Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds). Nature 338: 70-73, 1989.
[0013563]4151.Travis, G. H.; Christerson, L.; Danielson, P. E.; Klisak, I.; Sparkes, R. S.; Hahn, L. B.; Dryja, T. P.; Sutcliffe, J. G.: The human retinal degeneration slow (RDS) gene: chromosome assignment and structure of the mRNA. Genomics 10: 733-739, 1991.
[0013564]4152.Travis, G. H.; Hepler, J. E.: A medley of retinal dystrophies. Nature Genet. 3: 191-192, 1993.
[0013565]4153.Cramer, P.; Bushnell, D. A.; Fu, J.; Gnatt, A. L.; Maier-Davis, B.; Thompson, N. E.; Burgess, R. R.; Edwards, A. M.; David, P. R.; Kornberg, R. D.: Architecture of RNA polymerase II and implications for the transcription mechanism. Science 288: 640-648, 2000.
[0013566]4154.Yudkovsky, N.; Ranish, J. A.; Hahn, S.: A transcription reinitiation intermediate that is stabilized by activator. Nature 408: 225-229, 2000.
[0013567]4155.Dammann, R.; Pfeifer, G. P.: Cloning and characterization of the human RNA polymerase I subunit hRPA40. Biochim. Biophys. Acta 1396: 153-157, 1998.
[0013568]4156.Fanciulli, M.; Bruno, T.; Di Padova, M.; De Angelis, R.; Lovari, S.; Floridi, A.; Passananti, C.: The interacting RNA polymerase II subunits, hRPB11 and hRPB3, are coordinately expressed in adult human tissues and down-regulated by doxorubicin. FEBS Lett. 427: 236-240, 1998.
[0013569]4157.Pati, U. K.; Weissman, S. M.: The amino acid sequence of the human RNA polymerase II 33-kDa subunit hRPB 33 is highly conserved among eukaryotes. J. Biol. Chem. 265: 8400-8403, 1990.
[0013570]4158.Nelissen, R. L. H.; Sillekens, P. T. G.; Beijer, R. P.; Geurts van Kessel, A. H. M.; van Venrooij, W. J.: Structure, chromosomal localization and evolutionary conservation of the gene encoding human U1 snRNP-specific A protein. Gene 102: 189-196, 1991.
[0013571]4159.Henrion, A. A.; Martinez, A.; Mattei, M.-G.; Kahn, A.; Raymondjean, M.: Structure, sequence, and chromosomal location of the gene for USF2 transcription factors in mouse. Genomics 25: 36-43, 1995.
[0013572]4160.Jakimiuk, A. J.; Weitsman, S. R.; Magoffin, D. A.: 5-alpha-reductase activity in women with polycystic ovary syndrome. J. Clin. Endocr. Metab. 84: 2414-2418, 1999.
[0013573]4161.Reddi, A. H.: BMP-1: resurrection as procollagen C-proteinase. Science 271: 5-6, 1996.
[0013574]4162.Takahara, K.; Lee, S.; Wood, S.; Greenspan, D. S.: Structural organization and genetic localization of the human bone morphogenetic protein 1/mammalian tolloid gene. Genomics 29: 9-15, 1995.
[0013575]4163.Takahara, K.; Lyons, G. E.; Greenspan, D. S.: Bone morphogenetic protein-1 and a mammalian tolloid homologue (mTld) are encoded by alternatively spliced transcripts which are differentially expressed in some tissues. J. Biol. Chem. 269: 32572-32578, 1994.
[0013576]4164.Scott, I. C.; Blitz, I. L.; Pappano, W. N.; Imamura, Y.; Clark, T. G.; Steiglitz, B. M.; Thomas, C. L.; Maas, S. A.; Takahara, K.; Cho, K. W. Y.; Greenspan, D. S.: Mammalian BMP-1/Tolloidrelated metalloproteinases, including novel family member mammalian Tolloid-like 2, have differential enzymatic activities and distributions of expression relevant to patterning and skeletogenesis. Dev. Biol. 213: 283-300, 1999.
[0013577]4165.Yoshiura, K.; Tamura, T.; Hong, H.-S.; Ohta, T.; Soejima, H.; Kishino, T.; Jinno, Y.; Niikawa, N.: Mapping of the bone morphogenetic protein 1 gene (BMP1) to 8p21: removal of BMP1 from candidacy for the bone disorder in Langer-Giedion syndrome. Cytogenet. Cell Genet. 64: 208-209, 1993.
[0013578]4166.Hahn, G. V.; Cohen, R. B.; Wozney, J. M.; Levitz, C. L.; Shore, E. M.; Zasloff, M. A.; Kaplan, F. S.: A bone morphogenetic protein subfamily: chromosomal localization of human genes for BMP5, BMP6, and BMP7. Genomics 14: 759-762, 1992.
[0013579]4167.Lyons, K.; Graycar, J. L.; Lee, A.; Hashmi, S.; Lindquist, P. B.; Chen, E. Y.; Hogan, B. L. M.; Derynck, R.: Vgr-1, a mammalian gene related to Xenopus Vg-1, is a member of the transforming growth factor beta gene superfamily. Proc. Nat. Acad. Sci. 86: 4554-4558, 1989.
[0013580]4168.Rickard, D. J.; Hofbauer, L. C.; Bonde, S. K.; Gori, F.; Spelsberg, T. C.; Riggs, B. L.: Bone morphogenetic protein-6 production in human osteoblastic cell lines: selective regulation by estrogen. J. Clin. Invest. 101: 413-422, 1998.
[0013581]4169.Modi, W. S.; Dean, M.; Pollock, D. D.; Seuanez, H. N.; Christakos, S.: Chromosomal localization of the calbindin gene. (Abstract) Cytogenet. Cell Genet. 58: 1930 only, 1991.
[0013582]4170.Parmentier, M.; De Vijlder, J. J. M.; Muir, E.; Szpirer, C.; Islam, M. Q.; Geurts van Kessel, A.; Lawson, D. E. M.; Vassart, G.: The human calbindin 27 kDa gene: structural organization of the 5-prime and 3-prime regions, chromosomal assignment and restriction fragment length polymorphism. Genomics 4: 309-319, 1989.
[0013583]4171.Parmentier, M.; Lawson, D. E. M.; Vassart, G.: Human 27-kDa calbindin complementary DNA sequence: evolutionary and functional implications. Europ. J. Biochem. 170: 207-215, 1987.
[0013584]4172.Parmentier, M.; Passage, E.; Vassart, G.; Mattei, M.-G.: The human calbindin D28k (CALB1) and calretinin (CALB2) genes are located at 8q21.3-q22.1 and 16q22-q23, respectively, suggesting a common duplication with the carbonic anhydrase isozyme loci. Cytogenet. Cell Genet. 57: 41-43, 1991.
[0013585]4173.Parmentier, M.; Vassart, G.: HindIII RFLP on chromosome 8 detected with a calbindin 27 kDa cDNA probe, HBSC21. Nucleic Acids Res. 16: 9373 only, 1988.
[0013586]4174.Seto-Ohshima, A.; Emson, P. C.; Lawson, E.; Mountjoy, C. Q.; Carrasco, L. H.: Loss of matrix calcium-binding protein-containing neurons in Huntington's disease. Lancet I: 1252-1254, 1988.
[0013587]4175.Parmentier, M.; Szpirer, J.; Levan, G.; Vassart, G.: The human genes for calbindin 27 and 29 kDa proteins are located on chromosomes 8 and 16, respectively. Cytogenet. Cell Genet. 52: 85-87, 1989.
[0013588]4176.Schiffmann, S. N.; Cheron, G.; Lohof, A.; d'Alcantara, P.; Meyer, M.; Parmentier, M.; Schurmans, S.: Impaired motor coordination and Purkinje cell excitability in mice lacking calretinin. Proc. Nat. Acad. Sci. 96: 5257-5262, 1999.
[0013589]4177.Davies, A. A.; Moss, S. E.; Crompton, M. R.; Jones, T. A.; Spurr, N. K.; Sheer, D.; Kozak, C.; Crumpton, M. J.: The gene coding for the p68 calcium-binding protein is localized to bands q32-q34 of human chromosome 5, and to mouse chromosome 11. Hum. Genet. 82: 234-238, 1989.
[0013590]4178.Smith, P. D.; Davies, A.; Crumpton, M. J.; Moss, S. E.: Structure of the human annexin VI gene. Proc. Nat. Acad. Sci. 91: 2713-2717, 1994.
[0013591]4179.Sudhof, T. C.; Slaughter, C. A.; Leznicki, I.; Barjon, P.; Reynolds, G. A.: Human 67-kDa calelectrin contains a duplication of four repeats found in 35-kDa lipocortins. Proc. Nat. Acad. Sci. 85: 664-668, 1988.
[0013592]4180.Blow, J. J.; Laskey, R. A.: A role for the nuclear envelope in controlling DNA replication within the cell cycle. Nature 332: 546-548, 1988.
[0013593]4181.Burkhart, R.; Schulte, D.; Hu, D.; Musahl, C.; Gohring, F.; Knippers, R.: Interactions of human nuclear proteins P1Mcm3 and P1Cdc46. Europ. J. Biochem. 228: 431-438, 1995.
[0013594]4182.Chong, J. P.; Mahbubani, H. M.; Khoo, C. Y.; Blow, J. J.: Purification of an MCMcontaining complex as a component of the DNA replication licensing system. Nature 375: 418-421, 1995.
[0013595]4183.Hu, B.; Burkhart, R.; Schulte, D.; Musahl, C.; Knippers, R.: The P1 family: a new class of nuclear mammalian proteins related to the yeast Mcm replication proteins. Nucleic Acids Res. 21: 5289-5293, 1993.
[0013596]4184.Kubota, Y.; Mimura, S.; Nishimoto, S.; Takisawa, H.; Nojima, H. : Identification of the yeast MCM3-related protein as a component of Xenopus DNA replication licensing factor. Cell 81: 601-609, 1995.
[0013597]4185.Labib, K.; Tercero, J. A.; Diffley, J. F. X.: DNA replication fork progression requires uninterrupted MCM2-7 function. Science 288: 1643-1647, 2000.
[0013598]4186.Madine, M. A.; Khoo, C. Y.; Mills, A. D.; Laskey, R. A.: MCM3 complex required for cell cycle regulation of DNA replication in vertebrate cells. Nature 375: 421-424, 1995.
[0013599]4187.Mincheva, A.; Todorov, I.; Werner, D.; Fink, T. M.; Lichter, P. : The human gene for nuclear protein BM28 (CDCL1), a new member of the early S-phase family of proteins, maps to chromosome band 3q21. Cytogenet. Cell Genet. 65: 276-277, 1994.
[0013600]4188.Tsuruga, H.; Yabuta, N.; Hashizume, K.; Ikeda, M.; Endo, Y.; Nojima, H.: Expression, nuclear localization and interactions of human MCM/P1 proteins. Biochem. Biophys. Res. Commun. 236: 118-125, 1997.
[0013601]4189.Adams, M. D.; Dubnick, M.; Kerlavage, A. R.; Moreno, R.; Kelley, J. M.; Utterback, T. R.; Nagle, J. W.; Fields, C.; Venter, J. C.: Sequence identification of 2,375 human brain genes. Nature 355: 632-634, 1992.
[0013602]4190.Tugendreich, S.; Boguski, M. S.; Seldin, M. S.; Hieter, P.: Linking yeast genetics to mammalian genomes: identification and mapping of the human homolog of CDC27 via the expressed sequence tag (EST) data base. Proc. Nat. Acad. Sci. 90: 10031-10035, 1993.
[0013603]4191.Demetrick, D. J.; Beach, D. H.: Chromosome mapping of human CDC25A and CDC25B phosphatases. Genomics 18: 144-147, 1993.
[0013604]4192.Plon, S. E.; Leppig, K. A.; Do, H.-N.; Groudine, M.: Cloning of the human homolog of the CDC34 cell cycle gene by complementation in yeast. Proc. Nat. Acad. Sci. 90: 10484-10488, 1993.
[0013605]4193.Lane, S. A.; Baker, E.; Sutherland, G. R.; Tonks, I.; Hayward, N.; Ellem, K.: The human cell cycle gene CDC25B is located at 20p13. Genomics 15: 693-694, 1993.
[0013606]4194.Lincoln, A. J.; Wickramasinghe, D.; Stein, P.; Schultz, R. M.; Palko, M. E.; De Miguel, M. P.; Tessarollo, L.; Donovan, P. J.: Cdc25b phosphatase is required for resumption of meiosis during oocyte maturation. Nature Genet. 30: 446-449, 2002.
[0013607]4195.Bentley, K. L.; Ferguson-Smith, A. C.; Miki, T.; Kidd, K. K.; Ruddle, F. H.: Physical linkage of Hox 2.1 and nerve growth factor receptor. (Abstract) Cytogenet. Cell Genet. 51: 961 only, 1989.
[0013608]4196.Bibel, M.; Barde, Y.-A.: Neurotrophins: key regulators of cell fate and cell shape in the vertebrate nervous system. Genes Dev. 14: 2919-2937, 2000.
[0013609]4197.Bothwell, M.: p75(NTR): a receptor after all. Science 272: 506-507, 1996.
[0013610]4198.Carter, B. D.; Kaltschmidt, C.; Kaltschmidt, B.; Offenhauser, N.; Bohm-Matthaei, R.; Baeuerle, P. A.; Barde, Y.-A.: Selective activation of NF-kappa-B by nerve growth factor through the neurotrophin receptor p75. Science 272: 542-545, 1996.
[0013611]4199.Carter, B. D.; Lewin, G. R.: Neurotrophins live or let die: does p75(NTR) decide? Neuron 18: 187-190, 1997.
[0013612]4200.Chao, M. V.; Bothwell, M. A.; Ross, A. H.; Koprowski, H.; Lanahan, A. A.; Buck, C. R.; Sehgal, A.: Gene transfer and molecular cloning of the human NGF receptor. Science 232: 518-521, 1986.
[0013613]4201.Dobrowsky, R. T.; Werner, M. H.; Castellino, A. M.; Chao, M. V.; Hannun, Y. A.: Activation of the sphingomyelin cycle through the low-affinity neurotrophin receptor. Science 265: 1596-1599, 1994.
[0013614]4202.Colonna, M.; Bresnahan, M.; Bahram, S.; Strominger, J. L.; Spies, T.: Allelic variants of the human putative peptide transporter involved in antigen processing. Proc. Nat. Acad. Sci. 89: 3932-3936, 1992.
[0013615]4203.Huh, G. S.; Boulanger, L. M.; Du, H.; Riquelme, P. A.; Brotz, T. M.; Shatz, C. J.: Functional requirement for class I MHC in CNS development and plasticity. Science 290: 2155-2159, 2000.
[0013616]4204.Karttunen, J. T.; Lehner, P. J.; Gupta, S. S.; Hewitt, E. W.; Cresswell, P.: Distinct functions and cooperative interaction of the subunits of the transporter associated with antigen processing (TAP). Proc. Nat. Acad. Sci. 98: 7431-7436, 2001.
[0013617]4205.Cullen, M.; Erlich, H.; Klitz, W.; Carrington, M.: Molecular mapping of a recombination hotspot located in the second intron of the human TAP2 locus. Am. J. Hum. Genet. 56: 1350-1358, 1995.
[0013618]4206.de la Salle, H.; Donato, L.; Zimmer, J; Plebani, A.; Hanau, D.; Bonneville, M.; Tongio, M.-M.: HLA class I deficiencies.In: Ochs, H. D.; Smith, C. I. E.; Puck, J. M. (eds.): Primary Immunodeficiency Diseases: A Molecular and Genetic Approach. New York: Oxford University Press 1999. Pp. 181-188.
[0013619]4207.de la Salle, H.; Hanau, D.; Fricker, D.; Urlacher, A.; Kelly, A.; Salamero, J.; Powis, S. H.; Donato, L.; Bausinger, H.; Laforet, M.; Jeras, M.; Spehner, D.; Bieber, T.; Falkenrodt, A.; Cazenave, J.-P.; Trowsdale, J.; Tongio, M.-M.: Homozygous human TAP peptide transporter mutation in HLA class I deficiency. Science 265: 237-241, 1994.
[0013620]4208.Jeffreys, A. J.; Ritchie, A.; Neumann, R.: High resolution analysis of haplotype diversity and meiotic crossover in the human TAP2 recombination hotspot. Hum. Molec. Genet. 9: 725-733, 2000.
[0013621]4209.Powis, S. H.; Mockridge, I.; Kelly, A.; Kerr, L.-A.; Glynne, R.; Gileadi, U.; Beck, S.; Trowsdale, J.: Polymorphism in a second ABC transporter gene located within the class II region of the human major histocompatibility complex. Proc. Nat. Acad. Sci. 89: 1463-1467, 1992.
[0013622]4210.Jackson, R. S.; Creemers, J. W. M.; Ohagi, S.; Raffin-Sanson, M.-L.; Sanders, L.; Montague, C. T.; Hutton, J. C.; O'Rahilly, S.: Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene. Nature Genet. 16: 303-306, 1997.
[0013623]4211.Naggert, J. K.; Fricker, L. D.; Varlamov, O.; Nishina, P. M.; Rouille, Y.; Steiner, D. F.; Carroll, R. J.; Paigen, B. J.; Leiter, E. H.: Hyperproinsulinaemia in obese fat/fat mice associated with a carboxypeptidase E mutation which reduces enzyme activity. Nature Genet. 10: 135-142, 1995.
[0013624]4212.O'Rahilly, S.; Gray, H.; Humphreys, P. J.; Krook, A.; Polonsky, K. S.; White, A.; Gibson, S.; Taylor, K.; Carr, C.: Brief report: impaired processing of prohormones associated with abnormalities of glucose homeostasis and adrenal function. New Eng. J. Med. 333: 1386-1390, 1995.
[0013625]4213.Ohagi, S.; Sakaguchi, H.; Sanke, T.; Tatsuta, H.; Hanabusa, T.; Nanjo, K.: Human prohormone convertase 3 gene: exon-intron organization and molecular scanning for mutations in Japanese subjects with NIDDM. Diabetes 45: 897-901, 1996.
[0013626]4214.Furuta, M.; Carroll, R.; Martin, S.; Swift, H.; Ravazzola, M.; Orci, L.; Steiner, D.: Incomplete processing of proinsulin to insulin accompanied by elevation of Des-31,32 proinsulin intermediates in islets of mice lacking active PC2. J. Biol. Chem. 273: 3431-3437, 1998.
[0013627]4215.Furuta, M.; Yano, H.; Zhou, A.; Rouille, Y.; Holst, J.; Caroll, R.; Ravazzola, M.; Orci, L.; Furuta, H.; Steiner, D.: Defective prohormone processing and altered pancreatic islet morphology in mice lacking active SPC2. Proc. Nat. Acad. Sci. 94: 6646-6651, 1997.
[0013628]4216.Furuta, M.; Zhou, A.; Webb, G.; Carroll, R.; Ravazzola, M.; Orci, L.; Steiner, D. F.: Severe defect in proglucagon processing in islet A-cells of prohormone convertase 2 null mice. J. Biol. Chem. 276: 27197-27202, 2001.
[0013629]4217.Gabreels, B. A. T. F.; Swaab, D. F.; de Kleijn, D. P. V.; Seidah, N. G.; Van de Loo, J.-W.; Van de Ven, W. J. M.; Martens, G. J. M. and van Leeuwen, F. W.: Attenuation of the polypeptide 7B2, prohormone convertase PC2, and vasopressin in the hypothalamus of some Prader-Willi patients: indications for a processing defect. J. Clin. Endocr. Metab. 83: 591-599, 1998.
[0013630]4218.Maglott, D. R.; Feldblyum, T. V.; Durkin, A. S.; Nierman, W. C. : Radiation hybrid mapping of SNAP, PCSK2, and THBD (human chromosome 20p). Mammalian Genome 7: 400-401, 1996.
[0013631]4219.Ohagi, S.; LaMendola, J.; LeBeau, M. M.; Espinosa, R., III; Takeda, J.; Smeekens, S. P.; Chan, S. J.; Steiner, D. F.: Identification and analysis of the gene encoding human PC2, a prohormone convertase expressed in neuroendocrine tissues. Proc. Nat. Acad. Sci. 89: 4977-4981, 1992.
[0013632]4220.Taylor, N. A.; Shennan, K. I. J.; Cutler, D. F.; Docherty, K.: Mutations within the propeptide, the primary cleavage site or the catalytic site, or deletion of C-terminal sequences, prevents secretion of proPC2 from transfected COS-7 cells. Biochem. J. 321: 367-373, 1997.
[0013633]4221.Abeliovich, D.; Gelman-Kohan, Z.; Silverstein, S.; Lerer, I.; Chemke, J.; Merlin, S.; Zlotogora, J.: Familial cafe au lait spots: a variant of neurofibromatosis type 1. J. Med. Genet. 32: 985-986, 1995.
[0013634]4222.Abernathy, C. R.; Rasmussen, S. A.; Stalker, H. J.; Zori, R.; Driscoll, D. J.; Williams, C. A.; Kousseff, B. G.; Wallace, M. R.: NF1 mutation analysis using a combined heteroduplex/SSCP approach. Hum. Mutat. 9: 548-554, 1997.
[0013635]4223.Ablon, J.: Parents' responses to their child's diagnosis of neurofibromatosis 1. Am. J. Med. Genet. 93: 136-142, 2000.
[0013636]4224.Adornato, B. T.; Berg, B.: Diencephalic syndrome and von Recklinghausen's disease. Ann. Neurol. 2: 159-160, 1977.
[0013637]4225.Ainsworth, P. J.; Rodenhiser, D. I.; Costa, M. T.: Identification and characterization of sporadic and inherited mutations in exon 31 of the neurofibromatosis (NF1) gene. Hum. Genet. 91: 151-156, 1993.
[0013638]4226.Allan, T. N. K.; Davies, E. R.: Neurofibromatosis of the renal artery. Brit. J. Radiol. 43: 906-908, 1970.
[0013639]4227.Ars, E.; Kruyer, H.; Gaona, A.; Casquero, P.; Rosell, J.; Volpini, V.; Serra, E.; Lazaro, C.; Estivill, X.: A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene. Am. J. Hum. Genet. 62: 834-841, 1998.
[0013640]4228.Ars, E.; Serra, E.; Garcia, J.; Kruyer, H.; Gaona, A.; Lazaro, C.; Estivill, X.: Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. Hum. Molec. Genet. 9: 237-247, 2000.
[0013641]4229.Bahuau, M.; Pelet, A.; Vidaud, D.; Lamireau, T.; Le Bail, B.; Munnich, A.; Vidaud, M.; Lyonnet, S.; Lacombe, D.: GDNF as a candidate modifier in a type 1 neurofibromatosis (NF1) enteric phenotype. (Letter) J. Med. Genet. 38: 638-643, 2001.
[0013642]4230.Balcer, L. J.; Liu, G. T.; Heller, G.; Bilaniuk, L.; Volpe, N. J.; Galetta, S. L.; Molloy, P. T.; Phillips, P. C.; Janss, A. J.; Vaughn, S.; Maguire, M. G.: Visual loss in children with neurofibromatosis type I and optic pathway gliomas: relation to tumor location by magnetic resonance imaging. Am. J. Ophthal. 131: 442-445, 2001.
[0013643]4231.Dutta, S.; Akey, I. V.; Dingwall, C.; Hartman, K. L.; Laue, T.; Nolte, R. T.; Head, J. F.; Akey, C. W.: The crystal structure of nucleoplasmin-core: implications for histone binding and nucleosome assembly. Molec. Cell 8: 841-853, 2001.
[0013644]4232.Wilson, J. G.: Personal Communication. Boston, Mass. 10/25/1982.
[0013645]4233.Wilson, J. G.; Andriopoulos, N. A.; Fearon, D. T.: CR1 and the cell membrane proteins that bind C3 and C4: a basic and clinical review. Immun. Res. 6: 192-209, 1987.
[0013646]4234.Wilson, J. G.; Jack, R. M.; Wong, W. W.; Schur, P. H.; Fearon, D. T.: Autoantibody to the C3b/C4b receptor and absence of this receptor from erythrocytes of a patient with systemic lupus erythematosus. J. Clin. Invest. 76: 182-190, 1985.
[0013647]4235.Wilson, J. G.; Murphy, E. E.; Wong, W. W.; Klickstein, L. B.; Weis, J. H.; Fearon, D. T.: Identification of a restriction fragment length polymorphism by a CR1 cDNA that correlates with the number of CR1 on erythrocytes. J. Exp. Med. 164: 50-59, 1986.
[0013648]4236.Wilson, J. G.; Wong, W. W.; Schur, P. H.; Fearon, D. T.: Mode of inheritance of decreased C3b receptors on erythrocytes of patients with systemic lupus erythematosus. New Eng. J. Med. 307: 981-986, 1982.
[0013649]4237.Wong, W. W.; Cahill, J. M.; Rosen, M. D.; Kennedy, C. A.; Bonaccio, E. T.; Morris, M. J.; Wilson, J. G.; Klickstein, L. B.; Fearon, D. T.: Structure of the human CR1 gene: molecular basis of the structural and quantitative polymorphisms and identification of a new CR1-like allele. J. Exp. Med. 169: 847-863, 1989.
[0013650]4238.Wong, W. W.; Klickstein, L. B.; Smith, J. A.; Weis, J. H.; Fearon, D. T.: Identification of a partial cDNA clone for the human receptor for complement fragments C3b/C4b. Proc. Nat. Acad. Sci. 82: 7711-7715, 1985.
[0013651]4239.Alper, C. A.; Abramson, N.; Johnston, R. B., Jr.; Jandl, J. H.; Rosen, F. S.: Increased susceptibility to infection associated with abnormalities of complement-mediated functions and of the third component of complement (C3). New Eng. J. Med. 282: 349-354, 1970.
[0013652]4240.Alper, C. A.; Abramson, N.; Johnston, R. B., Jr.; Jandl, J. H.; Rosen, F. S.: Studies in vivo and in vitro on an abnormality in the metabolism of C3 in a patient with increased susceptibility to infection. J. Clin. Invest. 49: 1975-1985, 1970.
[0013653]4241.Alper, C. A.; Colten, H. R.; Gear, J. S. S.; Rabson, A. R.; Rosen, F. S.: Homozygous human C3 deficiency: the role of C3 in antibody production, C1s-induced vasopermeability, and cobra venom-induced passive hemolysis. J. Clin. Invest. 57: 222-229, 1976.
[0013654]4242.Alper, C. A.; Colten, H. R.; Rosen, S. F.; Rabson, A. R.; MacNab, G. M.; Gear, J. S. S.: Homozygous deficiency of C3 in a patient with repeated infections. Lancet II: 1179-1181, 1972.
[0013655]4243.Alper, C. A.; Propp, R. P.: Genetic polymorphism of the third component of human complement (C-prime-3). J. Clin. Invest. 47: 2181-2192, 1968.
[0013656]4244.Alper, C. A.; Propp, R. P.; Klemperer, M. R.; Rosen, F. S.: Inherited deficiency of the third component of human complement (C-prime-3). J. Clin. Invest. 48: 553-557, 1969.
[0013657]4245.Alper, C. A.; Rosen, F. S.: Studies of a hypomorphic variant of human C3. J. Clin. Invest. 50: 324-326, 1971.
[0013658]4246.Arvilommi, H.; Berg, K.; Eriksson, A. W.: C3 types and their inheritance in Finnish Lapps, Maris (Cheremisses) and Greenland Eskimos. Humangenetik 18: 253-259, 1973.
[0013659]4247.Azen, E. A.; Smithies, O.: Genetic polymorphism of C-prime-3 (beta-1C-globulin) in human serum. Science 162: 905-907, 1968.
[0013660]4248.Ball, S.; Buckton, K. E.; Corney, G.; Fey, G.; Monteiro, M.; Noades, J. E.; Pym, B.; Robson, E. B.; Tippett, P.: Mapping studies with peptidase D (PEPD). (Abstract) Cytogenet. Cell Genet. 37: 411 only, 1984.
[0013661]4249.Ballow, M.; Shira, J. E.; Harden, L.; Yang, S. Y.; Day, N. K. : Complete absence of the third component of complement in man. J. Clin. Invest. 56: 703-710, 1975.
[0013662]4250.Bauer, J.: Constitutional principles in clinical medicine. Harvey Lect. 28: 37-55, 1932.
[0013663]4251.Berg, K.; Heiberg, A.: Linkage between familial hypercholesterolemia with xanthomatosis and the C3 polymorphism confirmed. Cytogenet. Cell Genet. 22: 621-623, 1978.
[0013664]4252.Berg, K.; Heiberg, A.: Linkage studies on familial hypercholesterolemia with xanthomatosis: normal lipoprotein markers and the C3 polymorphism. Cytogenet. Cell Genet. 16: 266-270, 1976.
[0013665]4253.Berger, M.; Balow, J. E.; Wilson, C. B.; Frank, M. M.: Circulating immune complexes and glomerulonephritis in a patient with congenital absence of the third component of complement. New Eng. J. Med. 308: 1009-1012, 1983.
[0013666]4254.Borzy, M. S.; Gewurz, A.; Wolff, L.; Houghton, D.; Lovrien, E. : Inherited C3 deficiency with recurrent infections and glomerulonephritis. Am. J. Dis. Child. 142: 79-83, 1988.
[0013667]4255.Botto, M.; Fong, K. Y.; So, A. K.; Barlow, R.; Routier, R.; Morley, B. J.; Walport, M. J.: Homozygous hereditary C3 deficiency due to a partial gene deletion. Proc. Nat. Acad. Sci. 89: 1957-1961, 1992.
[0013668]4256.Arbiser, J. L.; Morton, C. C.; Bruns, G. A. P.; Majzoub, J. A. : Human corticotropin releasing hormone gene is located on the long arm of chromosome 8. Cytogenet. Cell Genet. 47: 113-116, 1988.
[0013669]4257.Behan, D. P.; Heinrichs, S. C.; Troncoso, J. C.; Liu, X.-J.; Kawas, C. H.; Ling, N.; De Souza, E. B.: Displacement of corticotropin releasing factor from its binding protein as a possible treatment for Alzheimer's disease. Nature 378: 284-287, 1995.
[0013670]4258.Cheng, Y.-H.; Nicholson, R. C.; King, B.; Chan, E.-C.; Fitter, J. T.; Smith, R.: Corticotropin-releasing hormone gene expression in primary placental cells is modulated by cyclic adenosine 3-prime,5-prime-monophosphate. J. Clin. Endocr. Metab. 85: 1239-1244, 2000.
[0013671]4259.Habib, K. E.; Weld, K. P.; Rice, K. C.; Pushkas, J.; Champoux, M.; Listwak, S.; Webster, E. L.; Atkinson, A. J.; Schulkin, J.; Contoreggi, C.; Chrousos, G. P.; McCann, S. M.; Suomi, S. J.; Higley, J. D.; Gold, P. W.: Oral administration of a corticotropin-releasing hormone receptor antagonist significantly attenuates behavioral, neuroendocrine, and autonomic responses to stress in primates. Proc. Nat. Acad. Sci. 97: 6079-6084, 2000.
[0013672]4260.Inder, W. J.; Prickett, T. C. R.; Ellis, M. J.; Hull, L.; Reid, R.; Benny, P. S.; Livesey, J. H.; Donald, R. A.: The utility of plasma CRH as a predictor of preterm delivery. J. Clin. Endocr. Metab. 86: 5706-5710, 2001.
[0013673]4261.Kellogg, J.; Luty, J. A.; Thompson, R.; Luo, X. Y.; Magenis, R. E.; Litt, M.: Corticotropin releasing hormone (CRH) maps to human chromosome 8 and identifies a TaqI RFLP. Cytogenet. Cell Genet. 51: 1022, 1989.
[0013674]4262.Knapp, L. T.; Keegan, C. E.; Seasholtz, A. F.; Camper, S. A.: Corticotropin-releasing hormone (Crh) maps to mouse chromosome 3. Mammalian Genome 4: 615-617, 1993.
[0013675]4263.Kyllo, J. H.; Collins, M. M.; Vetter, K. L.; Cuttler, L.; Rosenfield, R. L.; Donohoue, P. A.: Linkage of congenital isolated adrenocorticotropic hormone deficiency to the corticotropin releasing hormone locus using simple sequence repeat polymorphisms. Am. J. Med. Genet. 62: 262-267, 1996.
[0013676]4264.Majzoub, J. A.: Personal Communication. Boston, Mass. 3/3/1995.
[0013677]4265.Mandel, H.; Berant, M.; Gotfried, E.; Hochberg, Z.: Autosomal recessive hypothalamic corticotropin deficiency: a new entity and its metabolic consequences. (Abstract) Am. J. Hum. Genet. 47 (suppl.): A66, 1990.
[0013678]4266.McLean, M.; Bisits, A.; Davies, J.; Woods, R.; Lowry, P.; Smith, R.: A placental clock controlling the length of human pregnancy. Nature Med. 1: 460-463, 1995.
[0013679]4267.Muglia, L.; Jacobson, L.; Dikkes, P.; Majzoub, J. A.: Corticotropin-releasing hormone deficiency reveals major fetal but not adult glucocorticoid need. Nature 373: 427-432, 1995.
[0013680]4268.Robinson, B. G.; Emanuel, R. L.; Frim, D. M.; Majzoub, J. A.: Glucocorticoid stimulates expression of corticotropin-releasing hormone gene in human placenta. Proc. Nat. Acad. Sci. 85: 5244-5248, 1988.
[0013681]4269.Scatena, C. D.; Adler, S.: Trans-acting factors dictate the species-specific placental expression of corticotropin-releasing factor genes in choriocarcinoma cell lines. Endocrinology 137: 3000-3008, 1996.
[0013682]4270.Scatena, C. D.; Adler, S.: Characterization of a human-specific regulator of placental corticotropin-releasing hormone. Molec. Endocr. 12: 1228-1240, 1998.
[0013683]4271.Shibahara, S.; Morimoto, Y.; Furutani, Y.; Notake, M.; Takahashi, H.; Shimizu, S.; Horikawa, S.; Numa, S.: Isolation and sequence analysis of the human corticotropin-releasing factor precursor gene. EMBO J. 2: 775-779, 1983.
[0013684]4272.Stratakis, C. A.; Chrousos, G. P.: Neuroendocrinology and pathophysiology of the stress system. Ann. N.Y. Acad. Sci. 771: 1-18, 1995.
[0013685]4273.Stratakis, C. A.; Sarlis, N. J.; Berrettini, W. H.; Badner, J. A.; Chrousos, G. P.; Gershon, E. S.; Detera-Wadleigh, S. D.: Lack of linkage between the corticotropin-releasing hormone (CRH) gene and bipolar affective disorder. Molec. Psychiat. 2: 483-485, 1997.
[0013686]4274.Xu, B.; Sano, T.; Yamada, S.; Li, C. C.; Hirokawa, M.: Expression of corticotropinreleasing hormone messenger ribonucleic acid in human pituitary corticotroph adenomas associated with proliferative potential. J. Clin. Endocr. Metab. 85: 1220-1225, 2000.
[0013687]4275.Zouboulis, C. C.; Seltmann, H.; Hiroi, N.; Chen, W.; Young, M.; Oeff, M.; Scherbaum, W. A.; Orfanos, C. E.; McCann, S. M.; Bornstein, S. R.: Corticotropin-releasing hormone: an autocrine hormone that promotes lipogenesis in human sebocytes. Proc. Nat. Acad. Sci. 99: 7148-7153, 2002.
[0013688]4276.Chen, R.; Lewis, K. A.; Perrin, M. H.; Vale, W. W.: Expression cloning of a human corticotropin-releasing-factor receptor. Proc. Nat. Acad. Sci. 90: 8967-8971, 1993.
[0013689]4277.Dieterich, K. D.; Gundelfinger, E. D.; Ludecke, D. K.; Lehnert, H.: Mutation and expression analysis of corticotropin-releasing factor 1 receptor in adrenocorticotropin-secreting pituitary adenomas. J. Clin. Endocr. Metab. 83: 3327-3331, 1998.
[0013690]4278.Grammatopoulos, D.; Dai, Y.; Chen, J.; Karteris, E.; Papadopoulou, N.; Easton, A. J.; Hillhouse, E. W.: Human corticotropin-releasing hormone receptor: differences in subtype expression between pregnant and nonpregnant myometria. J. Clin. Endocr. Metab. 83: 2539-2544, 1998.
[0013691]4279.Leproult, R.; Colecchia, E. F.; L'Hermite-Baleriaux, M.; Van Cauter, E.: Transition from dim to bright light in the morning induces an immediate elevation of cortisol levels. J. Clin. Endocr. Metab. 86: 151-157, 2001.
[0013692]4280.Liaw, C. W.; Grigoriadis, D. E.; Lovenberg, T. W.; De Souza, E. B.; Maki, R. A.: Localization of ligand-binding domains of human corticotropin-releasing factor receptor: a chimeric receptor approach. Molec. Endocr. 11: 980-985, 1997.
[0013693]4281.Ion, A.; Crosby, A. H.; Kremer, H.; Kenmochi, N.; Van Reen, M.; Fenske, C.; Van Der Burgt, I.; Brunner, H. G.; Montgomery, K.: Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2, DCN, EPS8, and RPL6. J. Med. Genet. 37: 884-886, 2000.
[0013694]4282.Comer, K. A.; Falany, J. L.; Falany, C. N.: Cloning and expression of human liver dehydroepiandrosterone sulphotransferase. Biochem. J. 289: 233-240, 1993.
[0013695]4283.Durocher, F.; Morissette, J.; Dufort, I.; Simard, J.; Luu-The, V.: Genetic linkage mapping of the dehydroepiandrosterone sulfotransferase (STD) gene on the chromosome 19q13.3 region. Genomics 29: 781-783, 1995.
[0013696]4284.Kong, A.-N. T.; Yang, L.; Ma, M.; Tao, D.; Bjornsson, T. D.: Molecular cloning of the alcohol/hydroxysteroid form (hSTa) of sulfotransferase from human liver. Biochem. Biophys. Res. Commun. 187: 448-454, 1992.
[0013697]4285.Otterness, D.; Mohrenweiser, H. W.; Brandriff, B. F.; Weinshilboum, R. M.: Dehydroepiandrosterone sulfotransferase gene (STD): localization to human chromosome 19q13.3. Cytogenet. Cell Genet. 70: 45-47, 1995.
[0013698]4286.Otterness, D. M.; Her, C.; Aksoy, S.; Kimura, S.; Wieben, E. D.; Weinshilboum, R. M.: Human dehydroepiandrosterone sulfotransferase gene: molecular cloning and structural characterization. DNA Cell Biol. 14: 331-341, 1995.
[0013699]4287.Otterness, D. M.; Wieben, E. D.; Wood, T. C.; Watson, W. G.; Madden, B. J.; McCormick, D. J.; Weinshilboum, R. M.: Human liver dehydroepiandrosterone sulfotransferase: molecular cloning and expression of cDNA. Molec. Pharm. 41: 865-872, 1992.
[0013700]4288.Schulte-Korne, G.; Grimm, T.; Nothen, M. M.; Muller-Myhsok, B.; Cichon, S.; Vogt, I. R.; Propping, P.; Remschmidt, H.: Evidence for linkage of spelling disability to chromosome 15. (Letter) Am. J. Hum. Genet. 63: 279-282, 1998.
[0013701]4289.Yoon, J.-W.; Yoon, C.-S.; Lim, H.-W.; Huang, Q. Q.; Kang, Y.; Pyun, K. H.; Hirasawa, K.; Sherwin, R. S.; Jun, H.-S.: Control of autoimmune diabetes in NOD mice by GAD expression or suppression in beta cells. Science 284: 1183-1187, 1999.
[0013702]4290.Elgadi, K. M.; Meguid, R. A.; Qian, M.; Souba, W. W.; Abcouwer, S. F.: Cloning and analysis of unique human glutaminase isoforms generated by tissue-specific alternative splicing. Physiol. Genomics 31: 51-62, 1999.
[0013703]4291.Mock, B.; Kozak, C.; Seldin, M. F.; Ruff, N.; D'Hoostelaere, L.; Szpirer, C.; Levan, G.; Seuanez, H.; O'Brien, S.; Banner, C.: A glutaminase (Gls) gene maps to mouse chromosome 1, rat chromosome 9 and human chromosome 2. Genomics 5: 291-297, 1989. Note: Erratum: Genomics 5: 957 only, 1989.
[0013704]4292.Modi, W. S.; Pollock, D. D.; Mock, B. A.; Banner, C.; Renauld, J.-C.; Van Snick, J.: Regional localization of the human glutaminase (GLS) and interleukin-9 (IL9) genes by in situ hybridization. Cytogenet. Cell Genet. 57: 114-116, 1991.
[0013705]4293.Nagase, T.; Ishikawa, K.; Suyama, M.; Kikuno, R.; Hirosawa, M.; Miyajima, N.; Tanaka, A.; Kotani, H.; Nomura, N.; Oharo, O.: Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. DNA Res. 5: 355-364, 1998.
[0013706]4294.Prusiner, S. B.: Disorders of glutamate metabolism and neurological dysfunction. Ann. Rev. Med. 32: 512-542, 1981.
[0013707]4295.Sahai, S.: Glutaminase in human platelets. Clin. Chim. Acta 127: 197-203, 1983.
[0013708]4296.Sahai, S.; Vogel, F.: Genetic control of platelet glutaminase: a twin study. Hum. Genet. 63: 292-293, 1983.
[0013709]4297.Clancy, K. P.; Berger, R.; Cox, M.; Bleskan, J.; Walton, K. A.; Hart, I.; Patterson, D.: Localization of the L-glutamine synthetase gene to chromosome 1q23. Genomics 38: 418-420, 1996.
[0013710]4298.Gibbs, C. S.; Campbell, K. E.; Wilson, R. H.: Sequence of a human glutamine synthetase cDNA. Nucleic Acids Res. 15: 6293 only, 1987.
[0013711]4299.Gunnersen, D.; Haley, B.: Detection of glutamine synthetase in the cerebrospinal fluid of Alzheimer diseased patients: a potential diagnostic biochemical marker. Proc. Nat. Acad. Sci. 89: 11949-11953, 1992.
[0013712]4300.Helou, K.; Das, A. T.; Lamers, W. H.; Hoovers, J. M. N.; Szpirer, C.; Szpirer, J.; Klinga-Levan, K.; Levan, G.: FISH mapping of three ammonia metabolism genes (Glul, Cps1, Glud1) in rat, and the chromosomal localization of GLUL in human and Cps1 in mouse. Mammalian Genome 8: 362-364, 1997.
[0013713]4301.Pesole, G.; Bozzetti, M. P.; Lanave, C.; Preparata, G.; Saccone, C.: Glutamine synthetase gene evolution: a good molecular clock. Proc. Nat. Acad. Sci. 88: 522-526, 1991.
[0013714]4302.Wang, Y.; Kudoh, J.; Kubota, R.; Asakawa, S.; Minoshima, S.; Shimizu, N.: Chromosomal mapping of a family of human glutamine synthetase genes: functional gene (GLUL) on 1q25, pseudogene (GLULP) on 9p13, and three related genes (GLULL1, GLULL2, GLULL3) on 5q33, 11p15, and 11q24. Genomics 37: 195-199, 1996.
[0013715]4303.Oki, T.; Yamazaki, K.; Kuromitsu, J.; Okada, M.; Tanaka, I.: cDNA cloning and mapping of a novel subtype of glutamine:fructose-6-phosphate amidotransferase (GFAT2) in human and mouse. Genomics 57: 227-234, 1999.
[0013716]4304.Cerini, C.; Kerjan, P.; Astier, M.; Gratecos, D.; Mirande, M.; Semeriva, M.: A component of the multisynthetase complex is a multifunctional aminoacyl-tRNA synthetase. EMBO J. 10: 4267-4277, 1991.
[0013717]4305.Fett, R.; Knippers, R.: The primary structure of human glutaminyl-tRNA synthetase: a highly conserved core, amino acid repeat regions, and homologies with translation elongation factors. J. Biol. Chem. 266: 1448-1455, 1991.
[0013718]4306.Kaiser, E.; Hu, B.; Becher, S.; Eberhard, D.; Schray, B.; Baack, M.; Hameister, H.; Knippers, R.: The human EPRS locus (formerly the QARS locus): a gene encoding a class I and a class II aminoacyl-tRNA synthetase. Genomics 19: 280-290, 1994.
[0013719]4307.Kunze, N.; Bittler, E.; Fett, R.; Schray, B.; Hameister, H.; Wiedorn, K. H.; Knippers, R.: The human QARS locus: assignment of the human gene for glutaminyl-tRNA synthetase to chromosome 1q32-42. Hum. Genet. 85: 527-530, 1990.
[0013720]4308.Hoglund, P.; Haila, S.; Socha, J.; Tomaszewski, L.; Saarialho-Kere, U.; Karjalainen-Lindsberg, M.-L.; Airola, K.; Holmberg, C.; de la Chapelle, A.; Kere, J.: Mutations of the down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea. Nature Genet. 14: 316-319, 1996.
[0013721]4309.Horisberger, M. A.; Wathelet, M.; Szpirer, J.; Szpirer, C.; Islam, Q.; Levan, G.; Huez, G.; Content, J.: cDNA cloning and assignment to chromosome 21 of IFI-78K gene, the human equivalent of murine Mx gene. Somat. Cell Molec. Genet. 14: 123-131, 1988.
[0013722]4310.Huber, P.; Aebi, M.; Grob, R.; Pravtcheva, D.; Ruddle, F.; Haller, O.: Chromosomal localization of two human Mx genes. (Abstract) Experientia 44: A84 only, 1988.
[0013723]4311.Li, Y.; Youssoufian, H.: MxA overexpression reveals a common genetic link in four Fanconi anemia complementation groups. J. Clin. Invest. 100: 2873-2880, 1997.
[0013724]4312.Hoglund, P.; Sormaala, M.; Haila, S.; Socha, J.; Rajaram, U.; Scheurlen, W.; Sinaasappel, M.; de Jonge, H.; Holmberg, C.; Yoshikawa, H.; Kere, J.: Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea. Hum. Mutat. 18: 233-242, 2001.
[0013725]4313.Schweinfest, C. W.; Henderson, K. W.; Suster, S.; Kondoh, N.; Papas, T. S.: Identification of a colon mucosa gene that is down-regulated in colon adenomas and adenocarcinomas. Proc. Nat. Acad. Sci. 90: 4166-4170, 1993.
[0013726]4314.Taguchi, T.; Testa, J. R.; Papas, T. S.; Schweinfest, C.: Localization of a candidate colon tumor-suppressor gene (DRA) to 7q22-q31.1 by fluorescence in situ hybridization. Genomics 20: 146-147, 1994.
[0013727]4315.Yoshikawa, H.; Watanabe, T.; Abe, T.; Sato, M.; Oda, Y.: Japanese siblings with congenital chloride diarrhea. Pediat. Int. 42: 313-315, 2000.
[0013728]4316.McAlpine, P. J.; Kaita, H.; Lewis, M.: Is the DIA-1 locus linked to the P blood group locus? Cytogenet. Cell Genet. 22: 629-632, 1978.
[0013729]4317.Winqvist, R.; Lundstrom, K.; Salminen, M.; Laatikainen, M.; Ulmanen, I.: Mapping of human catechol-O-methyltransferase gene to 22q11.2 and detection of a frequent RFLP with BglI. (Abstract) Cytogenet. Cell Genet. 58: 2051 only, 1991.
[0013730]4318.Bu, L.; Jin, Y.; Shi, Y.; Chu, R.; Ban, A.; Eiberg, H.; Andres, L.; Jiang, H.; Zheng, G.; Qian, M.; Cui, B.; Xia, Y.; Liu, J.; Hu, L.; Zhao, G.; Hayden, M. R.; Kong, X.: Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract. Nature Genet. 31: 276-278, 2002.
[0013731]4319.Eiberg, H.; Marner, E.; Rosenberg, T.; Mohr, J.: Marner's cataract (CAM) assigned to chromosome 16: linkage to haptoglobin. Clin. Genet. 34: 272-275, 1988.
[0013732]4320.Marner, E.: A family with eight generations of hereditary cataract. Acta Ophthal. 27: 537-551, 1949.
[0013733]4321.Furukawa, Y.; Nakatsuru, S.; Nagafuchi, A.; Tsukita, S.; Muto, T.; Nakamura, Y.; Horii, A.: Structure, expression and chromosome assignment of the human catenin (cadherin-associated protein) alpha 1 gene (CTNNA1). Cytogenet. Cell Genet. 65: 74-78, 1994.
[0013734]4322.Hirano, S.; Kimoto, N.; Shimoyama, Y.; Hirohashi, S.; Takeichi, M.: Identification of a neural alpha-catenin as a key regulator of cadherin function and multicellular organization. Cell 70: 293-301, 1992.
[0013735]4323.McPherson, J. D.; Morton, R. A.; Ewing, C. M.; Wasmuth, J. J.; Overhauser, J.; Nagafuchi, A.; Tsukita, S.; Isaacs, W. B.: Assignment of the human alpha-catenin gene (CTNNA1) to chromosome 5q21-q22. Genomics 19: 188-190, 1994.
[0013736]4324.Nagafuchi, A.; Takeichi, M.; Tsukita, S.: The 102 kd cadherin-associated protein: similarity to vinculin and posttranscriptional regulation of expression. Cell 65: 849-857, 1991.
[0013737]4325.Nollet, F.; van Hengel, J.; Berx, G.; Molemans, F.; van Roy, F. : Isolation and characterization of a human pseudogene (CTNNAP1) for alpha-E-catenin (CTNNA1): assignment of the pseudogene to 5q22 and the alpha-E-catenin gene to 5q31. Genomics 26: 410-413, 1995.
[0013738]4326.Oda, T.; Kanai, Y.; Shimoyama, Y.; Nagafuchi, A.; Tsukita, S.; Hirohashi, S.: Cloning of the human alpha-catenin cDNA and its aberrant mRNA in a human cancer cell line. Biochem. Biophys. Res. Commun. 193: 897-904, 1993.
[0013739]4327.Pokutta, S.; Weis, W. I.: Structure of the dimerization and beta-catenin-binding region of alpha-catenin. Molec. Cell 5: 533-543, 2000.
[0013740]4328.Shimoyama, Y.; Nagafuchi, A.; Fujita, S.; Gotoh, M.; Takeichi, M.; Tsukita, S.; Hirohashi, S.: Cadherin dysfunction in a human cancer cell line: possible involvement of loss of alphacatenin expression in reduced cell-cell adhesiveness. Cancer Res. 52: 5770-5774, 1992.
[0013741]4329.Vasioukhin, V.; Bauer, C.; Degenstein, L.; Wise, B.; Fuchs, E. : Hyperproliferation and defects in epithelial polarity upon conditional ablation of alpha-catenin in skin. Cell 104: 605-617, 2001.
[0013742]4330.Bailey, A.; Norris, A. L.; Leek, J. P.; Clissold, P. M.; Carr, I. M.; Ogilvie, D. J.; Morrison, J. F. J.; Meredith, D. M.; Markham, A. F.: Yeast artificial chromosome cloning of the betacatenin locus on human chromosome 3p21-22. Chromosome Res. 3: 201-203, 1995.
[0013743]4331.Blaker, H.; Hofmann, W. J.; Rieker, R. J.; Penzel, R.; Graf, M.; Otto, H. F.: Beta-catenin accumulation and mutation of the CTNNB1 gene in hepatoblastoma. Genes Chromosomes Cancer 25: 399-402, 1999.
[0013744]4332.Chan, T. A.; Wang, Z.; Dang, L. H.; Vogelstein, B.; Kinzler, K. W.: Targeted inactivation of CTNNB1 reveals unexpected effects of beta-catenin mutation. Proc. Nat. Acad. Sci. 99: 8265-8270, 2002.
[0013745]4333.Chenn, A.; Walsh, C. A.: Regulation of cerebral cortical size by control of cell cycle exit in neural precursors. Science 297: 365-369, 2002.
[0013746]4334.Eastman, Q.; Grosschedl, R.: Regulation of LEF-1/TCF transcription factors by Wnt and other signals. Curr. Opin. Cell Biol. 11: 233-240, 1999.
[0013747]4335.Gat, U.; DasGupta, R.; Degenstein, L.; Fuchs, E.: De novo hair follicle morphogenesis and hair tumors in mice expressing a truncated beta-catenin in skin. Cell 95: 605-614, 1998.
[0013748]4336.Groden, J.; Thliveris, A.; Samowitz, W.; Carlson, M.; Gelbert, L.; Albertsen, H.; Joslyn, G.; Stevens, J.; Spirio, L.; Robertson, M.; Sargeant, L.; Krapcho, K.; Wolff, E.; Burt, R.; Hughes, J. P.; Warrington, J.; McPherson, J.; Wasmuth, J.; Le Paslier, D.; Abderrahim, H.; Cohen, D.; Leppert, M.; White, R.: Identification and characterization of the familial adenomatous polyposis coli gene. Cell 66: 589-600, 1991.
[0013749]4337.Walport, M. J.: Complement (first of two parts). New Eng. J. Med. 344: 1058-1066, 2001.
[0013750]4338.White, R. T.; Damm, D.; Hancock, N.; Rosen, B. S.; Lowell, B. B.; Usher, P.; Flier, J. S.; Spiegelman, B. M.: Human adipsin is identical to complement factor D and is expressed at high levels in adipose tissue. J. Biol. Chem. 267: 9210-9213, 1992.
[0013751]4339.Diaz-Guillen, M. A.; Rodriguez de Cordoba, S.; Heine-Suner, D. : A radiation hybrid map of complement factor H and factor H-related genes. Immunogenetics 49: 549-552, 1999.
[0013752]4340.Atkinson, J. P.: Personal Communication. St. Louis, Mo. 3/7/1983.
[0013753]4341.Curry, R. A.; Dierich, M. P.; Pellegrino, M. A.; Hoch, H. A.: Evidence for linkage between HLA antigens and receptors for complement components C3b and C3d in human-mouse hybrids. Immunogenetics 3: 465-471, 1976.
[0013754]4342.Dykman, T. R.; Cole, J. L.; Iida, K.; Atkinson, J. P.: Polymorphism of human erythrocyte C3b/C4b receptor. Proc. Nat. Acad. Sci. 80: 1698-1702, 1983.
[0013755]4343.Dykman, T. R.; Cole, J. L.; Iida, K.; Atkinson, J. P.: Structural heterogeneity of the C3b/C4b receptor (CR1) on human peripheral blood cells. J. Exp. Med. 157: 2160-2165, 1983.
[0013756]4344.Dykman, T. R.; Hatch, J. A.; Atkinson, J. P.: Polymorphism of the human C3b/C4b receptor: identification of a third allele and analysis of receptor phenotypes in families and patients with systemic lupus erythematosus. J. Exp. Med. 159: 691-703, 1984.
[0013757]4345.Gerdes, J.; Hansmann, M.-L.; Stein, H.; Naiem, M.; Mason, D. Y. : Ultrastructural localization of human complement C3b receptors in the human kidney as determined by immunoperoxidase staining with the monoclonal antibody C3RTo5. Virchows Arch. B 40: 1-7, 1982.
[0013758]4346.Hing, S.; Day, A. J.; Linton, S. J.; Ripoche, J.; Sim, R. B.; Reid, K. B.; Solomon, E.: Assignment of complement components C4 binding protein (C4BP) and factor H (FH) to human chromosome 1q, using cDNA probes. Ann. Hum. Genet. 52: 117-122, 1988.
[0013759]4347.Holers, V. M.; Chaplin, D. D.; Leykam, J. F.; Gruner, B. A.; Kumar, V.; Atkinson, J. P.: Human complement C3b/C4b receptor (CR1) mRNA polymorphism that correlates with the CR1 allelic molecular weight polymorphism. Proc. Nat. Acad. Sci. 84: 2459-2463, 1987.
[0013760]4348.Iida, K.; Momaghi, R.; Nussenzweig, V.: Complement receptor (CR1) deficiency in erythrocytes from patients with systemic lupus erythematosus. J. Exp. Med. 155: 1427-1438, 1982.
[0013761]4349.Jozsi, M.; Prechl, J.; Bajtay, Z.; Erdei, A.: Complement receptor type 1 (CD35) mediates inhibitory signals in human B lymphocytes. J. Immun. 168: 2782-2788, 2002.
[0013762]4350.Miyakawa, Y.; Yamada, A.; Kosaka, K.; Tsuda, F.; Kosugi, E.; Mayumi, M.: Defective immune-adherence (C3b) receptor on erythrocytes from patients with systemic lupus erythematosus. Lancet II: 493-497, 1981.
[0013763]4351.Moldenhauer, F.; David, J.; Fielder, A. H. L.; Lachmann, P. J.; Walport, M. J.: Inherited deficiency of erythrocyte complement receptor type 1 does not cause susceptibility to systemic lupus erythematosus. Arthritis Rheum. 30: 961-966, 1987.
[0013764]4352.Nelson, R. A.: The immune-adherence phenomenon: an immunologically specific reaction between microorganisms and erythrocytes leading to enhanced phagocytosis. Science 118: 733-737, 1953.
[0013765]4353.Nowak, J. S.: Genetic variability of complement receptor on human erythrocytes. J. Genet. 66: 133-138, 1987.
[0013766]4354.Ohi, H.; Ikezawa, T.; Watanabe, S.; Seki, M.; Mizutani, Y.; Nawa, N.; Hatano, M.: Two cases of mesangiocapillary glomerulonephritis with CR1 deficiency. (Letter) Nephron 43: 307 only, 1986.
[0013767]4355.Smith, B. O.; Mallin, R. L.; Krych-Goldberg, M.; Wang, X.; Hauhart, R. E.; Bromek, K.; Uhrin, D.; Atkinson, J. P.; Barlow, P. N.: Structure of the C3b binding site of CR1 (CD35), the immune adherence receptor. Cell 108: 769-780, 2002.
[0013768]4356.Asakura, H.; Zwain, I. H.; Yen, S. S. C.: Expression of genes encoding corticotropinreleasing factor (CRF), type 1 CRF receptor, and CRF-binding protein and localization of the gene products in the human ovary. J. Clin. Endocr. Metab. 82: 2720-2725, 1997.
[0013769]4357.Lynch, E. D.; Lee, M. K.; Morrow, J. E.; Welcsh, P. L.; Leon, P. E.; King, M.-C.: Nonsyndromic deafness DFNA1 associated with mutation of the human homolog of the Drosophila gene diaphanous. Science 278: 1315-1318, 1997.
[0013770]4358.Rowley, P. T.: Familial hearing loss associated with branchial fistulas. Pediatrics 44: 978-985, 1969.
[0013771]4359.Ganz, T.; Lehrer, R. I.: Defensins. Pharm. Ther. 66: 191-205, 1995.
[0013772]4360.Liu, L.; Zhao, C.; Heng, H. H. Q.; Ganz, T.: The human beta-defensin-1 and alphadefensins are encoded by adjacent genes: two peptide families with differing disulfide topology share a common ancestry. Genomics 43:
[0013773]316-320,1997.
[0013774]4361.Beischlag, T. V.; Marchese, A.; Meador-Woodruff, J. H.; Damask, S. P.; O'Dowd, B. F.; Tyndale, R. F.; Van Tol, H. H. M.; Seeman, P.; Niznik, H. B.: The human dopamine D5 receptor gene: cloning and characterization of the 5-prime flanking and promoter region. Biochemistry 34: 5960-5970, 1995.
[0013775]4362.Eubanks, J. H.; Altherr, M.; Wagner-McPherson, C.; McPherson, J. D.; Wasmuth, J. J.; Evans, G. A.: Localization of the D5 dopamine receptor gene to human chromosome 4p15.1-p15.3, centromeric to the Huntington's disease locus. Genomics 12: 510-516, 1992.
[0013776]4363.Grandy, D. K.; Allen, L. J.; Zhang, Y.; Magenis, R. E.; Civelli, O.: Chromosomal localization of three human D5 dopamine receptor genes. Genomics 13: 968-973, 1992.
[0013777]4364.Grandy, D. K.; Zhang, Y.; Bouvier, C.; Zhou, Q.-Y.; Johnson, R. A.; Allen, L.; Buck, K.; Bunzow, J. R.; Salon, J.; Civelli, O.: Multiple human D5 dopamine receptor genes: a functional receptor and two pseudogenes. Proc. Nat. Acad. Sci. 88: 9175-9179, 1991.
[0013778]4365.Grosson, C. L. S.; MacDonald, M. E.; Duyao, M. P.; Ambrose, C. M.; Roffler-Tarlov, S.; Gusella, J. F.: Synteny conservation of the Huntington's disease gene and surrounding loci on mouse chromosome 5. Mammalian Genome 5: 424-428, 1994.
[0013779]4366.Liu, F.; Wan, Q.; Pristupa, Z. B.; Yu, X.-M.; Wang, Y. T.; Niznik, H. B.: Direct proteinprotein coupling enables cross-talk between dopamine D5 and gamma-aminobutyric acid A receptors. Nature 403: 274-280, 2000.
[0013780]4367.Misbahuddin, A.; Placzek, M. R.; Chaudhuri, K. R.; Wood, N. W.; Bhatia, K. P.; Warner, T. T.: A polymorphism in the dopamine receptor DRD5 is associated with blepharospasm. Neurology 58: 124-126, 2002.
[0013781]4368.Placzek, M. R.; Misbahuddin, A.; Chaudhuri, K. R.; Wood, N. W.; Bhatia, K. P.; Warner, T. T.: Cervical dystonia is associated with a polymorphism in the dopamine (D5) receptor gene. J. Neurol. Neurosurg. Psychiat. 71: 262-264, 2001.
[0013782]4369.Polymeropoulos, M. H.; Xiao, H.; Merril, C. R.: The human D5 dopamine receptor (DRD5) maps on chromosome 4. Genomics 11: 777-778, 1991.
[0013783]4370.Sherrington, R.; Mankoo, B.; Attwood, J.; Kalsi, G.; Curtis, D.; Buetow, K.; Povey, S.; Gurling, H.: Cloning of the human dopamine D5 receptor gene and identification of a highly polymorphic microsatellite for the DRD5 locus that shows tight linkage to the chromosome 4p reference marker RAF1P1. Genomics 18: 423-425, 1993.
[0013784]4371.Tiberi, M.; Jarvie, K. R.; Silvia, C.; Falardeau, P.; Gingrich, J. A.; Godinot, N.; Bertrand, L.; Yang-Feng, T. L.; Fremeau, R. T., Jr.; Caron, M. G.: Cloning, molecular characterization, and chromosomal assignment of a gene encoding a second D-1 dopamine receptor subtype: differential expression pattern in rat brain compared with the D-1A receptor. Proc. Nat. Acad. Sci. 88: 7491-7495, 1991.
[0013785]4372.Weinshank, R. L.; Adham, N.; Macchi, M.; Olsen, M. A.; Branchek, T. A.; Hartig, P. R.: Molecular cloning and characterization of a high affinity dopamine receptor (D-1-beta) and its pseudogene. J. Biol. Chem. 266: 22427-22435, 1991.
[0013786]4373.Byerley, W.; Hoff, M.; Holik, J.; Caron, M. G.; Giros, B.: VNTR polymorphism for the human dopamine transporter gene (DAT1). Hum. Molec. Genet. 2: 335, 1993.
[0013787]4374.Cook, E. H., Jr.; Stein, M. A.; Krasowski, M. D.; Cox, N. J.; Olkon, D. M.; Kieffer, J. E.; Leventhal, B. L.: Association of attention-deficit disorder and the dopamine transporter gene. Am. J. Hum. Genet. 56: 993-998, 1995.
[0013788]4375.Doucette-Stamm, L.; Blakely, D. J.; Tian, J.; Mockus, S.; Mao, J.: Population genetic study of the human dopamine transporter gene (DAT1). Genet. Epidemiol. 12: 303-308, 1995.
[0013789]4376.Gainetdinov, R. R.; Wetsel, W. C.; Jones, S. R.; Levin, E. D.; Jaber, M.; Caron, M. G.: Role of serotonin in the paradoxical calming effect of psychostimulants on hyperactivity. Science 283: 397-401, 1999.
[0013790]4377.Gelernter, J.; Vandenbergh, D.; Kruger, S. D.; Pauls, D. L.; Kurlan, R.; Pakstis, A. J.; Kidd, K. K.; Uhl, G.: The dopamine transporter protein gene (SLC6A3): primary linkage mapping and linkage studies in Tourette syndrome. Genomics 30: 459-463, 1995.
[0013791]4378.Gill, M.; Daly, G.; Heron, S.; Hawi, Z.; Fitgerald, M.: Confirmation of association between attention deficit hyperactivity disorder and a dopamine transporter polymorphism. Molec. Psychiat. 2: 311-313, 1997.
[0013792]4379.Giros, B.; El Mestikawy, S.; Godinot, N.; Zheng, K.; Han, H.; Yang-Feng, T.; Caron, M. G.: Cloning, pharmacological characterization, and chromosome assignment of the human dopamine transporter. Molec. Pharm. 42: 383-390, 1992.
[0013793]4380.Giros, B.; Jaber, M.; Jones, S. R.; Wightman, R. M.; Caron, M. G.: Hyperlocomotion and indifference to cocaine and amphetamine in mice lacking the dopamine receptor. Nature 370: 606-612, 1996.
[0013794]4381.Goldman, D.: Dopamine transporter, alcoholism and other diseases. Nature Med. 1: 624-625, 1995.
[0013795]4382.Korn, W. T.; Schatzki, S. C.; DiSciullo, A. J.; Scully, R. E. : Papillary cystadenoma of the broad ligament in von Hippel-Lindau disease. Am. J. Obstet. Gynec. 163: 596-598, 1990.
[0013796]4383.Isnard, R.; Kalotka, H.; Durr, A.; Cossee, M.; Schmitt, M.; Pousset, F.; Thomas, D.; Brice, A.; Koenig, M.; Komajda, M.: Correlation between left ventricular hypertrophy and GAA trinucleotide repeat length in Friedreich's ataxia. Circulation 95: 2247-2249, 1997.
[0013797]4384.Koutnikova, H.; Campuzano, V.; Foury, F.; Dolle, P.; Cazzalini, O.; Koenig, M.: Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin. Nature Genet. 16: 345-351, 1997.
[0013798]4385.Litt, M.; Luty, J. A.: A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene. Am. J. Hum. Genet. 44: 397-401, 1989.
[0013799]4386.Baker, E.; Chen, L. Z.; Smith, C. A.; Callen, D. F.; Goodwin, R.; Sutherland, G. R.: Chromosomal location of the human tumor necrosis factor receptor genes. Cytogenet. Cell Genet. 57: 117-118, 1991.
[0013800]4387.Brockhaus, M.; Schoenfeld, H.-J.; Schlaeger, E.-J.; Hunziker, W.; Lesslauer, W.; Loetscher, H.: Identification of two types of tumor necrosis factor receptors on human cell lines by monoclonal antibodies. Proc. Nat. Acad. Sci. 87: 3127-3131, 1990.
[0013801]4388.Castellino, A. M.; Parker, G. J.; Boronenkov, I. V.; Anderson, R. A.; Chao, M. V.: A novel interaction between the juxtamembrane region of the p55 tumor necrosis factor receptor and phosphatidylinositol-4-phosphate 5-kinase. J. Biol. Chem. 272: 5861-5870, 1997.
[0013802]4389.Chan, F. K.-M.; Chun, H. J.; Zheng, L.; Siegel, R. M.; Bui, K. L.; Lenardo, M. J.: A domain in TNF receptors that mediates ligand-independent receptor assembly and signaling. Science 288: 2351-2354, 2000.
[0013803]4390.Aksentijevich, I.; Galon, J.; Soares, M.; Mansfield, E.; Hull, K.; Oh, H.-H.; Goldbach-Mansky, R.; Dean, J.; Athreya, B.; Reginato, A. J.; Henrickson, M.; Pons-Estel, B.; O'Shea, J. J.; Kastner, D. L.: The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers. Am. J. Hum. Genet. 69: 301-314, 2001. Note: Erratum: Am. J. Hum. Genet. 69: 1160 only, 2001.
[0013804]4391.Derre, J.; Kemper, O.; Cherif, D.; Nophar, Y.; Berger, R.; Wallach, D.: The gene for the type 1 tumor necrosis factor receptor (TNF-R1) is localized on band 12p13. Hum. Genet. 87: 231-233, 1991.
[0013805]4392.Dode, C.; Papo, T.; Fieschi, C. Pecheux, C.; Dion, E.; Picard, F.; Godeau, P.; Bienvenu, J.; Piette, J.-C.; Delpech, M.; Grateau, G.: A novel missense mutation (C30S) in the gene encoding tumour necrosis factor receptor 1 linked to autosomal-dominant recurrent fever with localized myositis in a French family. Arthritis Rheum. 43: 1535-1542, 2000.
[0013806]4393.Engelmann, H.; Novick, D.; Wallach, D.: Two tumor necrosis factor-binding proteins purified from human urine: evidence for immunological cross-reactivity with cell surface tumor necrosis factor receptors. J. Biol. Chem. 265: 1531-1536, 1990.
[0013807]4394.Fuchs, P.; Strehl, S.; Dworzak, M.; Himmler, A.; Ambros, P. F. : Structure of the human TNF receptor 1 (p60) gene (TNFR1) and localization to chromosome 12p13. Genomics 13: 219-224, 1992.
[0013808]4395.Atuk, N. O.; McDonald, T.; Wood, T.; Carpenter, J. T.; Walzak, M. P.; Donaldson, M.; Gillenwater, J. Y.; Turner, S. M.; Westfall, V.: Familial pheochromocytoma, hypercalcemia, and von Hippel-Lindau disease: a ten-year study of a large family. Medicine 58: 209-218, 1979.
[0013809]4396.Bender, B. U.; Altehofer, C.; Januszewicz, A.; Gartner, R.; Schmidt, H.; Hoffmann, M. M.; Heidemann, P. H.; Neumann, H. P. H.: Functioning thoracic paraganglioma: association with Von Hippel-Lindau syndrome. J. Clin. Endocr. Metab. 82: 3356-3360, 1997.
[0013810]4397.Bender, B. U.; Eng, C.; Olschewski, M.; Berger, D. P.; Laubenberger, J.; Altehofer, C.; Kirste, G.; Orszagh, M.; van Velthoven, V.; Miosczka, H.; Schmidt, D.; Neumann, H. P. H.: VHL c.505 T-C mutation confers a high age related penetrance but no increased overall mortality. J. Med. Genet. 38: 508-514, 2001.
[0013811]4398.Bender, B. U.; Gutsche, M.; Glasker, S.; Muller, B.; Kirste, G.; Eng, C.; Neumann, H. P. H.: Differential genetic alterations in von Hippel-Lindau syndrome-associated and sporadic pheochromocytomas. J. Clin. Endocr. Metab. 85: 4568-4574, 2000.
[0013812]4399.Bonnet, P.; Dechaume, J.; Blanc, E.: L'anevrisme cirsoide de la retine l'anevrisme racemeux, ses relations avec l'anevrisme cirsoide de la face et l'anevrisme cirsoid du cerveau. Bull. Soc. Ophtal. Franc. 51: 521-524, 1938.
[0013813]4400.Bradley, J. F.; Collins, D. L.; Schimke, R. N.; Parrott, H. N.; Rothberg, P. G.: Two distinct phenotypes caused by two different missense mutations in the same codon of the VHL gene. Am. J. Med. Genet. 87: 163-167, 1999.
[0013814]4401.Brauch, H.; Kishida, T.; Glavac, D.; Chen, F.; Pausch, F.; Hofler, H.; Latif, F.; Lerman, M. I.; Zbar, B.; Neumann, H. P. H.: Von Hippel-Lindau (VHL) disease with pheochromocytoma in the Black Forest region of Germany: evidence for a founder effect. Hum. Genet. 95: 551-556, 1995.
[0013815]4402.Brown, D. G.; Hilal, S. K.; Tenner, M. S.: Wyburn-Mason syndrome. Arch. Neurol. 28: 67-68, 1973.
[0013816]4403.Cahill, G. F.; Melicow, M. M.; Guerry, D.: The renal lesions in von Hippel-Lindau's disease. Trans. Am. Assoc. Genitourinary Surg. 35: 271-281, 1942.
[0013817]4404.Cameron, S. J.; Doig, A.: Cerebellar tumors presented with clinical features of phaeochromocytoma. Lancet I: 492-494, 1970.
[0013818]4405.Chapman, R. C.; Diaz-Perez, R.: Pheochromocytoma associated with cerebellar hemangioblastoma. J.A.M.A. 182: 1014-1017, 1962.
[0013819]4406.Chen, F.; Slife, L.; Kishida, T.; Mulvihill, J.; Tisherman, S. E.; Zbar, B.: Genotypephenotype correlation in von Hippel-Lindau disease: identification of a mutation associated with VHL type 2A. J. Med. Genet. 33: 716-717, 1996.
[0013820]4407.Christoferson, L. A.; Gustafson, M. B.; Petersen, A. G.: Von Hippel-Lindau's disease. J.A.M.A. 178: 280-282, 1961.
[0013821]4408.Chen, F.; Kishida, T.; Yao, M.; Hustad, T.; Glavac, D.; Dean, M.; Gnarra, J. R.; Orcutt, M. L.; Duh, F. M.; Glenn, G.; Green, J.; Hsia, Y. E.; Lamiell, J.; Li, H.; Wei, M. H.; Schmidt, L.; Tory, K.; Kuzman, I.; Stackhouse, T.; Latif, F.; Linehan, W. M.; Lerman, M.; Zbar, B.: Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. Hum. Mutat. 5: 66-75, 1995.
[0013822]4409.Collins, E. T.: Intra-ocular growths (two cases, brother and sister, with peculiar vascular new growth, probably primarily retinal, affecting both eyes). Trans. Ophthal. Soc. U.K. 14: 141-149, 1894.
[0013823]4410.Crossey, P. A.; Foster, K.; Richards, F. M.; Phipps, M. E.; Latif, F.; Tory, K.; Jones, M. H.; Bentley, E.; Kumar, R.; Lerman, M. I.; Zbar, B.; Affara, N. A.; Ferguson-Smith, M. A.; Maher, E. R.: Molecular genetic investigations of the mechanism of tumourigenesis in von Hippel-Lindau disease: analysis of allele loss in VHL tumours. Hum. Genet. 93: 53-58, 1994.
[0013824]4411.Crossey, P. A.; Richards, F. M.; Foster, K.; Green, J. S.; Prowse, A.; Latif, F.; Lerman, M. I.; Zbar, B.; Affara, N. A.; Ferguson-Smith, M. A.; Maher, E. R.: Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype. Hum. Molec. Genet. 3: 1303-1308, 1994.
[0013825]4412.Cushing, H.; Bailey, P.: Hemangiomas of cerebellum and retina (Lindau's disease), with the report of a case. Arch. Ophthal. 57: 447-463, 1928.
[0013826]4413.Davies, D. R.; Norman, A. M.; Whitehouse, R. W.; Evans, D. G. R.: Non-expression of von Hippel-Lindau phenotype in an obligate gene carrier. Clin. Genet. 45: 104-106, 1994.
[0013827]4414.Decker, H.-J. H.; Neumann, H. P. H.; Walter, T. A.; Sandberg, A. A.: 3p involvement in a renal cell carcinoma in von Hippel-Lindau syndrome: region of tumor breakpoint clustering on 3p? Cancer Genet. Cytogenet. 33: 59-65, 1988.
[0013828]4415.Duan, D. R.; Humphrey, J. S.; Chen, D. Y. T.; Weng, Y.; Sukegawa, J.; Lee, S.; Gnarra, J. R.; Linehan, W. M.; Klausner, R. D.: Characterization of the VHL tumor suppressor gene product: localization, complex formation, and the effect of natural inactivating mutations. Proc. Nat. Acad. Sci. 92: 6459-6463, 1995.
[0013829]4416.Duan, D. R.; Pause, A.; Burgess, W. H.; Aso, T.; Chen, D. Y. T.; Garrett, K. P.; Conaway, R. C.; Conaway, J. W.; Linehan, W. M.; Klausner, R. D.: Inhibition of transcription elongation by the VHL tumor suppressor protein. Science 269: 1402-1406, 1995.
[0013830]4417.Hurvitz, J. R.; Suwairi, W. M.; Van Hul, W.; El-Shanti, H.; Superti-Furga, A.; Roudier, J.; Holderbaum, D.; Pauli, R. M.; Herd, J. K.; Van Hul, E.; Rezai-Delui, H.; Legius, E.; Le Merrer, M.; Al-Alami, J.; Bahabri, S. A.; Warman, M. L.: Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia. Nature Genet. 23: 94-98, 1999.
[0013831]4418.Spranger, J.; Albert, C.; Schilling, F.; Bartsocas, C.; Stoss, H.: Progressive pseudorheumatoid arthritis of childhood (PPAC): a hereditary disorder simulating rheumatoid arthritis. Europ. J. Pediat. 140: 34-40, 1983.
[0013832]4419.Bahabri, S. A.; Suwairi, W. M.; Laxer, R. M.; Polinkovsky, A.; Dalaan, A. A.; Warman, M. L.: The camptodactyly-arthropathy-coxa vara-pericarditis syndrome: clinical features and genetic mapping to human chromosome 1. Arthritis Rheum. 41: 730-735, 1998.
[0013833]4420.Marcelino, J.; Carpten, J. D.; Suwairi, W. M.; Gutierrez, O. M.; Schwartz, S.; Robbins, C.; Sood, R.; Makalowska, I.; Baxevanis, A.; Johnstone, B.; Laxer, R. M.; Zemel, L.; and 13 others: CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome. Nature Genet. 23: 319-322, 1999.
[0013834]4421.Drolet, D. W.; Scully, K. M.; Simmons, D. M.; Wegner, M.; Chu, K.; Swanson, L. W.; Rosenfeld, M. G.: TEF, a transcription factor expressed specifically in the anterior pituitary during embryogenesis, defines a new class of leucine zipper proteins. Genes Dev. 5: 1739-1753, 1991.
[0013835]4422.Andrechek, E. R.; Hardy, W. R.; Girgis-Gabardo, A. A.; Perry, R. L. S.; Butler, R.; Graham, F. L.; Kahn, R. C.; Rudnicki, M. A.; Muller, W. J.: ErbB2 is required for muscle spindle and myoblast cell survival. Molec. Cell. Biol. 22: 4714-4722, 2002.
[0013836]4423.Bargmann, C. I.; Hung, M.-C.; Weinberg, R. A.: The NEU oncogene encodes an epidermal growth factor receptor-related protein. Nature 319: 226-230, 1986.
[0013837]4424.Chan, R.; Hardy, W. R.; Laing, M. A.; Hardy, S. E.; Muller, W. J.: The catalytic activity of the ErbB-2 receptor tyrosine kinase is essential for embryonic development. Molec. Cell. Biol. 22: 1073-1078, 2002.
[0013838]4425.Coussens, L.; Yang-Feng, T. L.; Liao, Y.-C.; Chen, E.; Gray, A.; McGrath, J.; Seeburg, P. H.; Libermann, T. A.; Schlessinger, J.; Francke, U.; Levinson, A.; Ullrich, A.: Tyrosine kinase receptor with extensive homology to EGF receptor shares chromosomal location with NEU oncogene. Science 230: 1132-1139, 1985.
[0013839]4426.Crone, S. A.; Zhao, Y.-Y.; Fan, L.; Gu, Y.; Minamisawa, S.; Liu, Y.; Peterson, K. L.; Chen, J.; Kahn, R.; Condorelli, G.; Ross, J., Jr.; Chien, K. R.; Lee, K.-F.: ErbB2 is essential in the prevention of dilated cardiomyopathy. Nature Med. 8: 459-465, 2002.
[0013840]4427.Dankort, D.; Maslikowski, B.; Warner, N.; Kanno, N.; Kim, H.; Wang, Z.; Moran, M. F.; Oshima, R. G.; Cardiff, R. D.; Muller, W. J.: Grb2 and Shc adapter proteins play distinct roles in Neu (ErbB-2) induced mammary tumorigenesis: implications for human breast cancer. Molec. Cell. Biol. 21: 1540-1551, 2001.
[0013841]4428.De Boer, J. G.: A new mutator phenotype in breast cancer? (Commentary) Proc. Nat. Acad. Sci. 99: 3368-3369, 2002.
[0013842]4429.De Placido, S.; Carlomagno, C.; De Laurentiis, M.; Bianco, A. R.: C-erbB2 expression predicts tamoxifen efficacy in breast cancer patients. Breast Cancer Res. Treat. 52: 55-64, 1998.
[0013843]4430.Di Fiore, P. P.; Pierce, J. H.; Kraus, M. H.; Segatto, O.; King, C. R.; Aaronson, S. A.: erbB-2 is a potent oncogene when overexpressed in NIH/3T3 cells. Science 237: 178-182, 1987.
[0013844]4431.Doherty, J. K.; Bond, C.; Jardim, A.; Adelman, J. P.; Clinton, G. M.: The HER-2/neu receptor tyrosine kinase gene encodes a secreted autoinhibitor. Proc. Nat. Acad. Sci. 96: 10869-10874, 1999.
[0013845]4432.Ehsani, A.; Low, J.; Wallace, R. B.; Wu, A. M.: Characterization of a new allele of the human ERBB2 gene by allele-specific competition hybridization. Genomics 15: 426-429, 1993.
[0013846]4433.Francke, U.: Personal Communication. New Haven, Connecticut 4/1988.
[0013847]4434.Fukushige, S.-I.; Matsubara, K.-I.; Yoshida, M.; Sasaki, M.; Suzuki, T.; Semba, K.; Toyoshima, K.; Yamamoto, T.: Localization of a novel v-erbB-related gene, c-erbB-2, on human chromosome 17 and its amplification in a gastric cancer cell line. Molec. Cell. Biol. 6: 955-958, 1986.
[0013848]4435.Kaneko, Y.; Homma, C.; Maseki, N.; Sakurai, M.; Toyoshima, K.; Yamamoto, T.: Human c-erbB-2 remains on chromosome 17 in band q21 in the 15;17 translocation associated with acute promyelocytic leukemia. Jpn. J. Cancer Res. 78: 16-19, 1987.
[0013849]4436.Lin, W.; Sanchez, H. B.; Deerinck, T.; Morris, J. K.; Ellisman, M.; Lee, K. F.: Aberrant development of motor axons and neuromuscular synapses in erbB2-deficient mice. Proc. Nat. Acad. Sci. 97: 1299-1304, 2000.
[0013850]4437.Liu, S.; Liu, W.; Jakubczak, J. L.; Erexson, G. L.; Tindall, K. R.; Chan, R.; Muller, W. J.; Adhya, S.; Garges, S.; Merlino, G.: Genetic instability favoring transversions associated with ErbB2-induced mammary tumorigenesis. Proc. Nat. Acad. Sci. 99: 3770-3775, 2002.
[0013851]4438.Mehta, R. R.; McDermott, J. H.; Hieken, T. J.; Marler, K. C.; Patel, M. K.; Wild, L. D.; Das Gupta, T. K.: Plasma c-erbB2 levels in breast cancer patients: prognostic significance in predicting response to chemotherapy. J. Clin. Oncol. 16: 2409-2416, 1998.
[0013852]4439.Morris, J. K.; Lin, W.; Hauser, C.; Marchuk, Y.; Getman, D.; Lee, K.-F.: Rescue of the cardiac defect in ErbB2 mutant mice reveals essential roles of ErbB2 in peripheral nervous system development. Neuron 23: 273-283, 1999.
[0013853]4440.Muleris, M.; Almeida, A.; Malfoy, B.; Dutrillaux, B.: Assignment of v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (ERBB2) to human chromosome band 17q21.1 by in situ hybridization. Cytogenet. Cell Genet. 76: 34-35, 1997.
[0013854]4441.Ozcelik, C.; Erdmann, B.; Pilz, B.; Wettschureck, N.; Britsch, S.; Hubner, N.; Chien, K. R.; Birchmeier, C.; Garratt, A. N.: Conditional mutation of the ErbB2 (HER2) receptor in cardiomyocytes leads to dilated cardiomyopathy. Proc. Nat. Acad. Sci. 99: 8880-8885, 2002.
[0013855]4442.Papewalis, J.; Nikitin, A. Y.; Rajewsky, M. F.: G to A polymorphism at amino acid codon 655 of the human erbB-2/HER2 gene. Nucleic Acids Res. 19: 5452 only, 1991.
[0013856]4443.Pegram, M. D.; Finn, R. S.; Arzoo, K.; Beryt, M.; Pietras, R. J.; Slamon, D. J.: The effect of HER-2/neu overexpression on chemotherapeutic drug sensitivity in human breast and ovarian cancer cells. Oncogene 15: 537-547, 1997.
[0013857]4444.Pietras, R. J.; Pegram, M. D.; Finn, R. S.; Maneval, D. A.; Slamon, D. J.: Remission of human breast cancer xenografts on therapy with humanized monoclonal antibody to HER-2 receptor and DNA-reactive drugs. Oncogene 17: 2235-2249, 1998.
[0013858]4445.Popescu, N. C.; King, C. R.; Kraus, M. H.: Localization of the human erbB-2 gene on normal and rearranged chromosomes 17 to bands q12-21.32. Genomics 4: 362-366, 1989.
[0013859]4446.Qiu, Y.; Ravi, L.; Kung, H.-J.: Requirement of ErbB2 for signalling by interleukin-6 in prostate carcinoma cells. Nature 393: 83-85, 1998.
[0013860]4447.Semba, K.; Kamata, N.; Toyoshima, K.; Yamamoto, T.: A v-erbB-related protooncogene, c-erbB-2, is distinct from the c-erbB-1/epidermal growth factor-receptor gene and is amplified in a human salivary gland adenocarcinoma. Proc. Nat. Acad. Sci. 82: 6497-6501, 1985.
[0013861]4448.Slamon, D. J.; Godolphin, W.; Jones, L. A.; Holt, J. A.; Wong, S. G.; Keith, D. E.; Levin, W. J.; Stuart, S. G.; Udove, J.; Ullrich, A.; Press, M. F.: Studies of the HER-2/neu proto-oncogene in human breast and ovarian cancer. Science 244: 707-712, 1989.
[0013862]4449.Slamon, D. J.; Leyland-Jones, B.; Shak, S.; Fuchs, H.; Paton, V.; Bajamonde, A.; Fleming, T.; Eiermann, W.; Wolter, J.; Pegram, M.; Baselga, J.; Norton, L.: Use of chemotherapy plus a monoclonal antibody against HER2 for metastatic breast cancer that overexpresses HER2. New Eng. J. Med. 344: 783-792, 2001.
[0013863]4450.Beutler, E.; Kuhl, W.; Gelbart, T.: 6-Phosphogluconolactonase deficiency, a hereditary erythrocyte enzyme deficiency: possible interaction with glucose-6-phosphate dehydrogenase deficiency. Proc. Nat. Acad. Sci. 82: 3876-3878, 1985.
[0013864]4451.Benkmann, H.-G.; Paik, Y. K.; Chen, L. Z.; Goedde, H. W.: Polymorphism of 6-PGD in South Korea: a new genetic variant 6-PGD Korea. Hum. Genet. 74: 204-205, 1986.
[0013865]4452.Blake, N. M.; Kirk, R. L.: New genetic variant of 6-phosphogluconate dehydrogenase in Australian aborigines. Nature 221: 278 only, 1969.
[0013866]4453.Bowman, J. E.; Carson, P. E.; Frischer, H.; De Garay, A. L.: Genetics of starch-gel electrophoretic variants of human 6-phosphogluconic dehydrogenase: population and family studies in the United States and in Mexico. Nature 210: 811-812, 1966.
[0013867]4454.Brewer, G. J.; Dern, R. J.: A new inherited enzymatic deficiency of human erythrocytes: 6-phosphogluconate dehydrogenase deficiency. Am. J. Hum. Genet. 16: 472-476, 1964.
[0013868]4455.Burgerhout, W.; Van Someren, H.; Bootsma, D.: Cytological mapping of the genes assigned to the human A1 chromosome by use of radiation-induced chromosome breakage in a human-Chinese hamster hybrid cell line. Humangenetik 20: 159-162, 1973.
[0013869]4456.Davidson, R. G.: Electrophoretic variants of human 6-phosphogluconate dehydrogenase: population and family studies and description of a new variant. Ann. Hum. Genet. 30: 355-362, 1967.
[0013870]4457.Dern, R. J.; Brewer, G. J.; Tashian, R. E.; Shows, T. B.: Hereditary variation of erythrocytic 6-phosphogluconate dehydrogenase. J. Lab. Clin. Med. 67: 255-264, 1966.
[0013871]4458.Douglas, G. R.; McAlpine, P. J.; Hamerton, J. L.: Regional localization of loci for human PGM-1 and 6PGD on human chromosome 1 by use of hybrids of Chinese hamster-human somatic cells. Proc. Nat. Acad. Sci. 70: 2737-2740, 1973.
[0013872]4459.Fildes, R. A.; Parr, C. W.: Human red-cell phosphogluconate dehydrogenases. Nature 200: 890-891, 1963.
[0013873]4460.Nelson, M. S.: Biochemical and genetic characterization of the Lowell variant: a new phenotype of 6-phosphogluconate dehydrogenase. Hum. Genet. 62: 333-336, 1982.
[0013874]4461.Nevo, S.: A new rare PGD variant, PGD Mediterranean. Hum. Genet. 81: 199 only, 1989.
[0013875]4462.Parr, C. W.: Erythrocyte phosphogluconate dehydrogenase polymorphism. Nature 210: 487-489, 1966.
[0013876]4463.Parr, C. W.; Fitch, L. I.: Inherited quantitative variations of human phosphogluconate dehydrogenase. Ann. Hum. Genet. 30: 339-353, 1967.
[0013877]4464.Ritter, H.; Toriverdiau, G.; Wendt, G. G.; Zilch, I.: Genetic and linkage analysis on 6-PGD. Humangenetik 14: 73-75, 1971.
[0013878]4465.Tariverdian, G.; Ropers, H.-H.; Op't Hof, J.; Ritter, H.: Zur Genetik der 6-Phosphogluconatdehydrogenase (EC: 1.1.1.44): Eine neue Variante F (Freiburg). Humangenetik 10: 355-357, 1970.
[0013879]4466.Weitkamp, L. R.: Genetic linkage relationships of the ADA and 6-PGD loci in 'Humangenetik.' (Letter) Humangenetik 15: 359-360, 1972.
[0013880]4467.Weitkamp, L. R.; Guttormsen, S. A.; Greendyke, R. M.: Genetic linkage between a locus for 6-PGD and the Rh locus: evaluation of possible heterogeneity in the recombination fraction between sexes and among families. Am. J. Hum. Genet. 23: 462-470, 1971.
[0013881]4468.Weitkamp, L. R.; Guttormsen, S. A.; Shreffler, D. C.; Sing, C. F.; Napier, J. A.: Genetic linkage relations of the loci for 6-phosphogluconate dehydrogenase and adenosine deaminase in man. Am. J. Hum. Genet. 22: 216-220, 1970.
[0013882]4469.Westerveld, A.; Meera Khan, P.: Evidence for linkage between human loci for 6-phosphogluconate dehydrogenase and phosphoglucomutase(1) in man-Chinese hamster somatic cell hybrids. Nature 236: 30-32, 1972.
[0013883]4470.Charles, D. J.; Pretsch, W.: Linear dose-response relationship of erythrocyte enzymeactivity mutations in offspring of ehylnitrosourea-treated mice. Mutat. Res. 176: 81-91, 1987.
[0013884]4471.Chen, S.-H.; Anderson, J.; Giblett, E. R.; Lewis, M.: Phosphoglyceric acid mutase: rare genetic variants and tissue distribution. Am. J. Hum. Genet. 26: 73-77, 1974.
[0013885]4472.DiMauro, S.; Miranda, A. F.; Sakoda, S.; Schon, E. A.; Servidei, S.; Shanske, S.; Zeviani, M.: Metabolic myopathies. Am. J. Med. Genet. 25: 635-651, 1986.
[0013886]4473.Fundele, R.; Bucher, T.; Gropp, A.; Winking, H.: Enzyme patterns in trisomy 19 of the mouse. Dev. Genet. 2: 291-303, 1981.
[0013887]4474.Gerald, P. S.; Grzeschik, K. H.: Report of the committee on the genetic constitution of chromosomes 10, 11 and 12. Cytogenet. Cell Genet. 37: 103-126, 1984.
[0013888]4475.Pretsch, W.; Favor, J.: A precise localization of a mouse gene encoding increased phosphoglycerate mutase activity (Pgam1e1) on chromosome 19. Mammalian Genome 7: 619 only, 1996.
[0013889]4476.Sakoda, S.; Shanske, S.; DiMauro, S.; Schon, E. A.: Isolation of a cDNA encoding the B isozyme of human phosphoglycerate mutase (PGAM) and characterization of the PGAM gene family. J. Biol. Chem. 263: 16899-16905, 1988.
[0013890]4477.Blanche, H.; Szabo, P.; Cohen, D.; Dausset, J.; Cann, H. M.: A subclone of the autosomal phosphoglycerate kinase pseudogene (HGM8 gene symbol PGK1P2), localized to 6p23-q12, detects moderately polymorphic RFLP. Nucleic Acids Res. 15: 3941 only, 1987.
[0013891]4478.Thomas, K. R.; Capecchi, M. R. :Cell 51: 503-512, 1987.
[0013892]4479.Berdichevskii, F. B.; Chumakov, I. M.; Kiselev, L. L.: Determination of the nucleotide sequence of the son3 fragment of the human genome: identification of a new protein with an unusual structure and homology with DNA-binding proteins. Molec. Biol. (Mosk.) 22: 794-801, 1988.
[0013893]4480.Khan, I. M.; Fisher, R. A.; Johnson, K. J.; Bailey, M. E. S.; Siciliano, M. J.; Kessling, A. M.; Farrer, M.; Carritt, B.; Kamalati, T.; Buluwela, L.: The SON gene encodes a conserved DNA binding protein mapping to human chromosome 21. Ann. Hum. Genet. 58: 25-34, 1994.
[0013894]4481.Carr, I. M.: Personal Communication. Leeds, England 3/1/1999.
[0013895]4482.Carr, I. M.; Markham, A. F.: Molecular genetic analysis of the human sorbitol dehydrogenase gene. Mammalian Genome 6: 645-652, 1995.
[0013896]4483.Carr, I. M.; Markham, A. F.; Coletta, P. L.: Identification and characterisation of a sequence related to human sorbitol dehydrogenase. Europ. J. Biochem. 245: 760-767, 1997.
[0013897]4484.Carr, I. M.; Whitehouse, A.; Coletta, P. L.; Markham, A. F.: Structural and evolutionary characterization of the human sorbitol dehydrogenase gene duplication. Mammalian Genome 9: 1042-1048, 1998.
[0013898]4485.Donald, L. J.; Wang, H. S.; Hamerton, J. L.: Assignment of the sorbitol dehydrogenase locus to human chromosome 15pter-q21. Biochem. Genet. 18: 425-431, 1980.
[0013899]4486.Iwata, T.; Popescu, N. C.; Zimonjic, D. B.; Karlsson, C.; Hoog, J.-O.; Vaca, G.; Rodriguez, I. R.; Carper, D.: Structural organization of the human sorbitol dehydrogenase gene (SORD). Genomics 26: 55-62, 1995.
[0013900]4487.Lee, F. K.; Cheung, M. C.; Chung, S.: The human sorbitol dehydrogenase gene: cDNA cloning, sequence determination, and mapping by fluorescence in situ hybridization. Genomics 21: 354-358, 1994.
[0013901]4488.Op't Hof, J.: Isoenzymes and population genetics of sorbitol dehydrogenase (EC: 1.1.1.14) in swine (Sus scrofa). Humangenetik 7: 258-259, 1969.
[0013902]4489.Shin, Y. S.; Rieth, M.; Endres, W.: Sorbitol dehydrogenase deficiency in a family with congenital cataracts. J. Inherit. Metab. Dis. 7 (suppl. 2): 151-152, 1984.
[0013903]4490.Vaca, G.; Ibarra, B.; Bracamontes, M.; Garcia-Cruz, D.; Sanchez-Corona, J.; Medina, C.; Wunsch, C.; Gonzalez-Quiroga, G.; Cantu, J. M.: Red blood cell sorbitol dehydrogenase deficiency in a family with cataracts. Hum. Genet. 61: 338-341, 1982.
[0013904]4491.Bowtell, D.; Fu, P.; Simon, M. A.; Senior, P.: Identification of murine homologues of the Drosophila Son of sevenless gene: potential activators of ras. Proc. Nat. Acad. Sci. 89: 6511-6515, 1992.
[0013905]4492.Chardin, P.; Camonis, J. H.; Gale, N. W.; Van Aelst, L.; Schlessinger, J.; Wigler, M. H.; Bar-Sagi, D.: Human Sos1: a guanine nucleotide exchange factor for Ras that binds to GRB2. Science 260: 1338-1343, 1993.
[0013906]4493.Scita, G.; Nordstrom, J.; Carbone, R.; Tenca, P.; Giardina, G.; Gutkind, S.; Bjarnegard, M.; Betsholtz, C.; Di Fiore, P. P.: EPS8 and E3B1 transduce signals from Ras to Rac. Nature 401: 290-293, 1999.
[0013907]4494.Soisson, S. M.; Nimnual, A. S.; Uy, M.; Bar-Sagi, D.; Kuriyan, J.: Crystal structure of the Dbl and pleckstrin homology domains from the human Son of sevenless protein. Cell 95: 259-268, 1998.
[0013908]4495.Webb, G. C.; Jenkins, N. A.; Largaespada, D. A.; Copeland, N. G.; Fernandez, C. S.; Bowtell, D. D. L.: Mammalian homologues of the Drosophila Son of sevenless gene map to murine chromosomes 17 and 12 and to human chromosomes 2 and 14, respectively. Genomics 18: 14-19, 1993.
[0013909]4496.Sarraf, P.; Mueller, E.; Smith, W. M.; Wright, H. M.; Kum, J. B.; Aaltonen, L. A.; de la Chapelle, A.; Spiegelman, B. M.; Eng, C. : Loss-of-function mutations in PPAR-gamma associated with human colon cancer. Molec. Cell 3: 799-804, 1999.
[0013910]4497.Scheidler, S.; Fredericks, W. J.; Rauscher, F. J., III; Barr, F. G.; Vogt, P. K.: The hybrid PAX3-FKHR fusion protein of alveolar rhabdomyosarcoma transforms fibroblasts in culture. Proc. Nat. Acad. Sci. 93: 9805-9809, 1996.
[0013911]4498.Sublett, J. E.; Jeon, I-S.; Shapiro, D. N.: The alveolar rhabdomyosarcoma PAX3/FKHR fusion protein is a transcriptional activator. Oncogene 11: 545-552, 1995.
[0013912]4499.Whang-Peng, J.; Knutsen, T.; Theil, K.; Horowitz, M. E.; Triche, T.: Cytogenetic studies in subgroups of rhabdomyosarcoma. Genes Chromosomes Cancer 5: 299-310, 1992.
[0013913]4500.Richard, I.; Broux, O.; Chiannilkulchai, N.; Fougerousse, F.; Allamand, V.; Bourg, N.; Brenguier, L.; Devaud, C.; Pasturaud, P.; Roudaut, C.; Lorenzo, F.; Sebastiani-Kabatchis, C.; Schultz, R. A.; Polymeropoulos, M. H.; Gyapay, G.; Auffray, C.; Beckmann, J. S.: Regional localization of human chromosome 15 loci. Genomics 23: 619-627, 1994.
[0013914]4501.Zuniga, A.; Haramis, A.-P. G.; McMahon, A. P.; Zeller, R.: Signal relay by BMP antagonism controls the SHH/FGF4 feedback loop in vertebrate limb buds. Nature 401: 598-602, 1999.
[0013915]4502.Bao, L.; Gerard, N. P.; Eddy, R. L., Jr.; Shows, T. B.; Gerard, C.: Mapping of genes for the human C5a receptor (C5AR), human FMLP receptor (FPR), and two FMLP receptor homologue orphan receptors (FPRH1, FPRH2) to chromosome 19. Genomics 13: 437-440, 1992.
[0013916]4503.Ozcelik, T.; Murphy, P. M.; Francke, U.: Chromosomal assignment of genes for a formyl peptide receptor (FPR1), a structural homologue of the formyl peptide receptor (FPRL1) and a low affinity interleukin 8 receptor (IL8RA) in human. (Abstract) Cytogenet. Cell Genet. 58: 2023-2024, 1991.
[0013917]4504.Walther, A.; Riehemann, K.; Gerke, V.: A novel ligand of the formyl peptide receptor: annexin I regulates neutrophil extravasation by interacting with the FPR. Molec. Cell 5: 831-840, 2000.
[0013918]4505.Klein, C.; Paul, J. I.; Sauve, K.; Schmidt, M. M.; Arcangeli, L.; Ransom, J.; Trueheart, J.; Manfredi, J. P., Broach, J. R.; Murphy, A. J.: Identification of surrogate agonists for the human FPRL-1 receptor by autocrine selection in yeast. Nature Biotech. 16: 1334-1337, 1998.
[0013919]4506.Le, Y.; Yazawa, H.; Gong, W.; Yu, Z.; Ferrans, V. J.; Murphy, P. M.; Wang, J. M.: Cutting edge: the neurotoxic prion peptide fragment PrP(106-126) is a chemotactic agonist for the G protein-coupled receptor formyl peptide receptor-like 1. J. Immun. 166: 1448-1451, 2001.
[0013920]4507.Murphy, P. M.; Ozcelik, T.; Kenney, R. T.; Tiffany, H. L.; McDermott, D.; Francke, U.: A structural homologue of the N-formyl peptide receptor: characterization and chromosome mapping of a peptide chemoattractant receptor family. J. Biol. Chem. 267: 7637-7643, 1992.
[0013921]4508.Margaritte, P.; Bonaiti-Pellie, C.; King, M.-C.; Clerget-Darpoux, F.: Linkage of familial breast cancer to chromosome 17q21 may not be restricted to early-onset disease. Am. J. Hum. Genet. 50: 1231-1234, 1992.
[0013922]4509.Mefford, H. C.; Baumbach, L.; Panguluri, R. C. K.; Whitfield-Broome, C.; Szabo, C.; Smith, S.; King, M.-C.; Dunston, G.; Stoppa-Lyonnet, D.; Arena, F.: Evidence for a BRCA1 founder mutation in families of West African ancestry. (Letter) Am. J. Hum. Genet. 65: 575-578, 1999.
[0013923]4510.Meijers-Heijboer, E. J.; Verhoog, L. C.; Brekelmans, C. T. M.; Seynaeve, C.; Tilanus-Linthorst, M. M. A.; Wagner, A.; Dukel, L.; Devilee, P.; van den Ouweland, A. M. W.; van Geel, A. N.; Klijn, J. G. M.: Presymptomatic DNA testing and prophylactic surgery in families with a BRCA1 or BRCA2 mutation. Lancet 355: 2015-2020, 2000.
[0013924]4511.Meijers-Heijboer, H.; van Geel, B.; van Putten, W. L. J.; Henzen-Logmans, S. C.; Seynaeve, C.; Menke-Pluymers, M. B. E.; Bartels, C. C. M.; Verhoog, L. C.; van den Ouweland, A. M. W.; Niermeijer, M. F.; Brekelmans, C. T. M.; Klijn, J. G. M.: Breast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation. New Eng. J. Med. 345: 159-164, 2001.
[0013925]4512.Merajver, S. D.; Pham, T. M.; Caduff, R. F.; Chen, M.; Poy, E. L.; Cooney, K. A.; Weber, B. L.; Collins, F. S.; Johnston, C.; Frank, T. S.: Somatic mutations in the BRCA1 gene in sporadic ovarian tumours. Nature Genet. 9: 439-443, 1995.
[0013926]4513.Miki, Y.; Swensen, J.; Shattuck-Eidens, D.; Futreal, P. A.; Harshman, K.; Tavtigian, S.; Liu, Q.; Cochran, C.; Bennett, L. M.; Ding, W.; Bell, R.; Rosenthal, J.; and 33 others: A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266: 66-71, 1994. 100. Moynahan, M. E.; Chiu, J. W.; Koller, B. H.; Jasin, M.: Brca1 controls homology-directed DNA repair. Molec. Cell 4: 511-518, 1999. 101. Narod, S.; Feunteun, J.; Lynch, H.; Watson, P.; Conway, T.; Lynch, J.; Lenoir, G.: A breast-ovarian cancer locus on chromosome 17. (Abstract) Am. J. Hum. Genet. 49 (suppl.): 352, 1991. 102. Narod, S.; Ford, D.; Devilee, P.; Barkardottir, R. B.; Eyfjord, J.; Lenoir, G.; Serova, O.; Easton, D.; Goldgar, D.; Breast Cancer Linkage Consortium: Genetic heterogeneity of breast-ovarian cancer revisited. (Letter) Am. J. Hum. Genet. 57: 957-958, 1995. 103. Narod, S.; Tonin, P.; Lynch, H.; Watson, P.; Feunteun, J.; Lenoir, G.: Histology of BRCA1-associated ovarian tumours. (Letter) Lancet 343: 236 only, 1994. 104. Narod, S. A.; Feunteun, J.; Lynch, H. T.; Watson, P.; Conway, T.; Lynch, J.; Lenoir, G. M.: Familial breast-ovarian cancer locus on chromosome 17q12-q23. Lancet 338: 82-83, 1991. 105. Narod, S. A.; Ford, D.; Devilee, P.; Barkardottir, R. B.; Lynch, H. T.; Smith, S. A.; Ponder, B. A. J.; Weber, B. L.; Garber, J. E.; Birch, J. M.; Cornelis, R. S.; Kelsell, D. P.; and 17 others: An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families. Am. J. Hum. Genet. 56: 254-264, 1995. 106. Narod, S. A.; Risch, H.; Moslehi, R.; Dorum, A.; Neuhausen, S.; Olsson, H.; Provencher, D.; Radice, P.; Evans, G.; Bishop, S.; Brunet, J.-S.; Ponder, B. A. J.; Hereditary Ovarian Cancer Clinical Study Group: Oral contraceptives and the risk of hereditary ovarian cancer. New Eng. J. Med. 339: 424-428, 1998. 107. Nastiuk, K. L.; Mansukhani, M.; Terry, M. B.; Kularatne, P.; Rubin, M. A.; Melamed, J.; Gammon, M. D.; Ittmann, M.; Krolewski, J. J.: Common mutations in BRCA1 and BRCA2 do not contribute to early prostate cancer in Jewish men. Prostate 40: 172-177, 1999. 108. Neuhausen, S. L.; Mazoyer, S.; Friedman, L.; Stratton, M.; Offit, K.; Caligo, A.; Tomlinson, G.; Cannon-Albright, L.; Bishop, T.; Kelsell, D.; Solomon, E.; Weber, B.; Couch, F.; Struewing, J.; Tonin, P.; Durocher, F.; Narod, S.; Skolnick, M. H.; Lenoir, G.; Serova, O.; Ponder, B.; Stoppa-Lyonnet, D.; Easton, D.; King, M.-C.; Goldgar, D. E.: Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study. Am. J. Hum. Genet. 58: 271-280, 1996. 109. O'Connell, P.; Albertsen, H.; Matsunami, N.; Taylor, T.; Hundley, J. E.; Johnson-Pais, T. L.; Reus, B.; Lawrence, E.; Ballard, L.; White, R.; Leach, R. J.: A radiation hybrid map of the BRCA1 region. Am. J. Hum. Genet. 54: 526-534, 1994. 110. Pace, P.; Johnson, M.; Tan, W. M.; Mosedale, G.; Sng, C.; Hoatlin, M.; de Winter, J.; Joenje, H.; Gergely, F.; Patel, K. J.: FANCE: the link between Fanconi anaemia complex assembly and activity. EMBO J. 21: 3414-3423, 2002. 111. Paull, T. T.; Cortez, D.; Bowers, B.; Elledge, S. J.; Gellert, M.: Direct DNA binding by Brca1. Proc. Nat. Acad. Sci. 98: 6086-6091, 2001. 112. Petrij-Bosch, A.; Peelen, T.; van Vliet, M.; van Eijk, R.; Olmer, R.; Drusedau, M.; Hogervorst, F. B. L.; Hageman, S.; Arts, P. J. W.; Ligtenberg, M. J. L.; Meijers-Heijboer, H.; Klijn, J. G. M.; Vasen, H. F. A.; Cornelisse, C. J.; van't Veer, L. J.; Bakker, E.; van Ommen, G.-J. B.; Devilee, P.: BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Nature Genet. 17: 341-345, 1997. 113. Phelan, C. M.; Rebbeck, T. R.; Weber, B. L.; Devilee, P.; Ruttledge, M. H.; Lynch, H. T.; Lenoir, G. M.; Stratton, M. R.; Easton, D. F.; Ponder, B. A. J.; Cannon-Albright, L.; Larsson, C.; Goldgar, D. E.; Narod, S. A.: Ovarian cancer risk in BRCA1 carriers is modified by the HRAS1 variable number of tandem repeat (VNTR) locus. Nature Genet. 12: 309-311, 1996. 114. Piver, M. S.; Baker, T. R.; Jishi, M. F.; Sandecki, A. M.; Tsukada, Y.; Natarajan, N.; Mettlin, C. J.; Blake, C. A.: Familial ovarian cancer: a report of 658 families from the Gilda Radner Familial Ovarian Cancer Registry 1981-1991. Cancer 71: 582-588, 1993. 115. Puget, N.; Gad, S.; Perrin-Vidoz, L.; Sinilnikova, O. M.; Stoppa-Lyonnet, D.; Lenoir, G. M.; Mazoyer, S.: Distinct BRCA1 rearrangements involving the BRCA1 pseudogene suggest the existence of a recombination hot spot. Am. J. Hum. Genet. 70: 858-865, 2002. 116. Puget, N.; Sinilnikova, O. M.; Stoppa-Lyonnet, D.; Audoynaud, C.; Pages, S.; Lynch, H. T.; Goldgar, D.; Lenoir, G. M.; Mazoyer, S.: An Alu-mediated 6-kb duplication in the BRCA1 gene: a new founder mutation? Am. J. Hum. Genet. 64: 300-302, 1999. 117. Puget, N.; Stoppa-Lyonnet, D.; Sinilnikova, O. M.; Pages, S.; Lynch, H. T.; Lenoir, G. M.; Mazoyer, S.: Screening for germline rearrangements and regulatory mutations in BRCA1 led to the identification of four new deletions. Cancer Res. 59: 455-461, 1999. 118. Ramus, S. J.; Friedman, L. S.; Gayther, S. A.; Ponder, B. A. J.; Bobrow, L. G.; van der Looji, M.; Papp, J.; Olah, E.: A breast/ovarian cancer patient with germline mutations in both BRCA1 and BRCA2. (Letter) Nature Genet. 15: 14-15, 1997. 119. Rebbeck, T. R.; Couch, F. J.; Kant, J.; Calzone, K.; DeShano, M.; Peng, Y.; Chen, K.; Garber, J. E.; Weber, B. L.: Genetic heterogeneity in hereditary breast cancer: role of BRCA1 and BRCA2. Am. J. Hum. Genet. 59: 547-553, 1996. 120. Rebbeck, T. R.; Lynch, H. T.; Neuhausen, S. L.; Narod, S. A.; van't Veer, L.; Garber, J. E.; Evans, G.; Isaacs, C.; Daly, M. B.; Matloff, E.; Olopade, O. I.; Weber, B. L. Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. New Eng. J. Med. 346: 1616-1622, 2002. 121. Risch, H. A.; McLaughlin, J. R.; Cole, D. E. C.; Rosen, B.; Bradley, L.; Kwan, E.; Jack, E.; Vesprini, D. J.; Kuperstein, G.; Abrahamson, J. L. A.; Fan, I.; Wong, B.; Narod, S. A.: Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. Am. J. Hum. Genet. 68: 700-710, 2001. 122. Roa, B. B.; Boyd, A. A.; Volcik, K.; Richards, C. S.: Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nature Genet. 14: 185-187, 1996. 123. Ruffner, H.; Jiang, W.; Craig, A. G.; Hunter, T.; Verma, I. M. : BRCA1 is phosphorylated at serine 1497 in vivo at a cyclin-dependent kinase 2 phosphorylation site. Molec. Cell. Biol. 19: 4843-4854, 1999. 124. Sarantaus, L.; Huusko, P.; Eerola, H.; Launonen, V.; Vehmanen, P.; Rapakko, K.; Gillanders, E.; Syrjakoski, K.; Kainu, T.; Vahteristo, P.; Krahe, R.; Paakkonen, K.; and 14 others: Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland. Europ. J. Hum. Genet. 8: 757-763, 2000. 125. Sarantaus, L.; Vahteristo, P.; Bloom, E.; Tamminen, A.; Unkila-Kallio, L.; Butzow, R.; Nevanlinna, H. BRCA1 and BRCA2 mutations among 233 unselected Finnish ovarian carcinoma patients. Europ. J. Hum. Genet. 9: 424-430, 2001. 126. Schorge, J. O.; Muto, M. G.; Welch, W. R.; Bandera, C. A.; Rubin, S. C.; Bell, D. A.; Berkowitz, R. S.; Mok, S. C.: Molecular evidence for multifocal papillary serous carcinoma of the peritoneum in patients with germline BRCA1 mutations. J. Nat. Cancer Inst. 90: 841-845, 1998. 127. Schrock, E.; Badger, P.; Larson, D.; Erdos, M.; Wynshaw-Boris, A.; Ried, T.; Brody, L.: The murine homolog of the human breast and ovarian cancer susceptibility gene Brca1 maps to mouse chromosome 11D. Hum. Genet. 97: 256-259, 1996. 128. Schuyer, M.; Berns, E. M.: Is TP53 dysfunction required for BRCA1-associated carcinogenesis? Molec. Cell. Endocrin. 155: 143-152, 1999. 129. Scully, R.; Anderson, S. F.; Chao, D. M.; Wei, W.; Ye, L.; Young, R. A.; Livingston, D. M.; Parvin, J. D.: BRCA1 is a component of the RNA polymerase II holoenzyme. Proc. Nat. Acad. Sci. 94: 5605-5610, 1997. 130. Scully, R.; Ganesan, S.; Brown, M.; De Caprio, J. A.; Cannistra, S. A.; Feunteun, J.; Schnitt, S.; Livingston, D. M.: Location of BRCA1 in human breast and ovarian cancer cells. Science 272: 123-125, 1996. 131. Scully, R.; Ganesan, S.; Vlasakova, K.; Chen, J.; Socolovsky, M.; Livingston, D. M.: Genetic analysis of BRCA1 function in a defined tumor cell line. Molec. Cell 4: 1093-1099, 1999. 132. Serova, O.; Montagna, M.; Torchard, D.; Narod, S. A.; Tonin, P.; Sylla, B.; Lynch, H. T.; Feunteun, J.; Lenoir, G. M.: A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families. Am. J. Hum. Genet. 58: 42-51, 1996. 133. Simard, J.; Feunteun, J.; Lenoir, G.; Tonin, P.; Normand, T.; The, V. L.; Vivier, A.; Lasko, D.; Morgan, K.; Rouleau, G. A.; Lynch, H.; Labrie, F.; Narod, S. A.: Genetic mapping of the breast-ovarian cancer syndrome to a small interval on chromosome 17q12-21: exclusion of candidate genes EDH17B2 and RARA. Hum. Molec. Genet. 2: 1193-1199, 1993. 134. Simard, J.; Tonin, P.; Durocher, F.; Morgan, K.; Rommens, J.; Gingras, S.; Samson, C.; Leblanc, J.-F.; Belanger, C.; Dion, F.; Liu, Q.; Skolnick, M.; Goldgar, D.; Shattuck-Eidens, D.; Labrie, F.; Narod, S. A.: Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families. Nature Genet. 8: 392-398, 1994. 135. Skolnick, M. H.; Cannon-Albright, L. A.; Goldgar, D. E.; Ward, J. H.; Marshall, C. J.; Schumann, G. B.; Hogle, H.; McWhorter, W. P.; Wright, E. C.; Tran, T. D.; Bishop, D. T.; Kushner, J. P.; Eyre, H. J.: Inheritance of proliferative breast disease in breast cancer kindreds. Science 250: 1715-1720, 1990. 136. Smith, S. A.; Easton, D. F.; Evans, D. G. R.; Ponder, B. A. J. : Allele losses in the region 17q12-21 in familial breast and ovarian cancer involve the wild-type chromosome. Nature Genet. 2: 128-131, 1992. 137. Smith, T. M.; Lee, M. K.; Szabo, C. I.; Jerome, N.; McEuen, M.; Taylor, M.; Hood, L.; King, M.-C.: Complete genomic sequence and analysis of 117 kb of human DNA containing the gene BRCA1. Genome Res. 6: 1029-1049, 1996. 138. Sobol, H.; Mazoyer, S.; Narod, S. A.; Smith, S. A.; Black, D. M.; Kerbrat, P.; Jamot, B.; Solomon, E.; Ponder, B. A. J.; Guerin, D.: Genetic heterogeneity of early-onset familial breast cancer. Hum. Genet. 89: 381-383, 1992. 139. Steeg, P. S.: Granin expectations in breast cancer? Nature Genet. 12: 223-225, 1996. 140. Stoppa-Lyonnet, D.; Fricker, J. P.; Essioux, L.; Pages, S.; Limacher, J. M.; Sobol, H.; Laurent-Puig, P.; Thomas, G.: Segregation of two BRCA1 mutations in a single family. (Letter) Am. J. Hum. Genet. 59: 479-481, 1996. 141. Stratton, M. R.; Ford, D.; Neuhasen, S.; Seal, S.; Wooster, R.; Friedman, L. S.; King, M.-C.; Egilsson, V.; Devilee, P.; McManus, R.; Daly, P. A.; Smyth, E.; Ponder, B. A. J.; Peto, J.; Cannon-Albright, L.; Easton, D. F.; Goldgar, D. E.: Familial male breast cancer is not linked to the BRCA1 locus on chromosome 17q. Nature Genet. 7: 103-107, 1994. 142. Struewing, J. P.; Abeliovich, D.; Peretz, T.; Avishai, N.; Kaback, M. M.; Collins, F. S.; Brody, L. C.: The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nature Genet. 11: 198-200, 1995. 143. Struewing, J. P.; Brody, L. C.; Erdos, M. R.; Kase, R. G.; Giambarresi, T. R.; Smith, S. A.; Collins, F. S.; Tucker, M.A.: Detection of eight BRCA1 mutations in 10 breast/ovarian cancer families, including 1 family with male breast cancer. Am. J. Hum. Genet. 57: 1-7, 1995. 144. Struewing, J. P.; Hartge, P.; Wacholder, S.; Baker, S. M.; Berlin, M.; McAdams, M.; Timmerman, M. M.; Brody, L. C.; Tucker, M. A.: The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. New Eng. J. Med. 336: 1401-1408, 1997. 145. Szabo, C. I.; King, M.-C.: Population genetics of BRCA1 and BRCA2. (Editorial) Am. J. Hum. Genet. 60: 1013-1020, 1997. 146. Tesoriero, A.; Andersen, C.; Southey, M.; Somers, G.; McKay, M.; Armes, J.; McCredie, M.; Giles, G.; Hopper, J. L.; Venter, D. : De novo BRCA1 mutation in a patient with breast cancer and an inherited BRCA2 mutation. (Letter) Am. J. Hum. Genet. 65: 567-569, 1999. 147. Thompson, M. E.; Jensen, R. A.; Obermiller, P. S.; Page, D. L.; Holt, J. T.: Decreased expression of BRCA1 accelerates growth and is often present during sporadic breast cancer progression. Nature Genet. 9: 444-450, 1995. 148. Tonin, P.; Moslehi, R.; Green, R.; Rosen, B.; Cole, D.; Boyd, N.; Cutler, C.; Margolese, R.; Carter, R.; McGillivray, B.; Ives, E.; Labrie, F.; Gilchrist, D.; Morgan, K.; Simard, J.; Narod, S. A. : Linkage analysis of 26 Canadian breast and breast-ovarian cancer families. Hum. Genet. 95: 545-550, 1995. 149. Tonin, P. N.; Mes-Masson, A.-M.; Futreal, P. A.; Morgan, K.; Mahon, M.; Foulkes, W. D.; Cole, D. E. C.; Provencher, D.; Ghadirian, P.; Narod, S. A.: Founder BRCA1 and BRCA2 mutations in French Canadian breast ovarian cancer families. Am. J. Hum. Genet. 63: 1341-1351, 1998. 150. Vallon-Christersson, J.; Cayanan, C.; Haraldsson, K.; Loman, N.; Bergthorsson, J. T.; Brondum-Nielsen, K.; Gerdes, A.-M.; Moller, P.; Kristoffersson, U.; Olsson, H.; Borg, A.; Monteiro, A. N. A.: Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families. Hum. Molec. Genet. 10: 353-360, 2001. 151. van Orsouw, N. J.; Dhanda, R. K.; Elhaji, Y.; Narod, S. A.; Li, F. P.; Eng, C.; Vijg, J.: A highly accurate, low cost test for BRCA1 mutations. J. Med. Genet. 36: 747-753, 1999. 152. Vazina, A.; Baniel, J.; Yaacobi, Y.; Shtriker, A.; Engelstein, D.; Leibovitz, I.; Zehavi, M.; Sidi, A. A.; Ramon, Y.; Tischler, T.; Livne, P. M.; Friedman, E.: The rate of the founder Jewish mutations in BRCA1 and BRCA2 in prostate cancer patients in Israel. Brit. J. Cancer 83: 463-466, 2000. 153. Vega, A.; Campos, B.; Bressac-de Paillerets, B.; Bond, P.; Janin, N.; Douglas, F.; Domenech, M.; Baena, M.; Pericay, C.; Alonso, M. C.; Carracedo, A.; Baiget, M.; Diez, O.: The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript. Hum. Mutat. 17: 520-521, 2001. 154. Vega, A.; Torres, M.; Martinez, J. I.; Ruiz-Ponte, C.; Barros, F.; Carracedo, A.: Analysis of BRCA1 and BRCA2 in breast and breast/ovarian cancer families shows population substructure in the Iberian peninsula. Ann. Hum. Genet. 66: 29-36, 2002. 155. Wang, Y.; Cortez, D.; Yazdi, P.; Neff, N.; Elledge, S. J.; Qin, J.: BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures. Genes Dev. 14: 927-939, 2000. 156. Welcsh, P. L.; King, M.-C.: BRCA1 and BRCA2 and the genetics of breast and ovarian cancer. Hum. Molec. Genet. 10: 705-713, 2001. 157. Whittemore, A. S.; Harris, R.; Itnyre, J.; Collaborative Ovarian Cancer Group: Characteristics relating to ovarian cancer risk: collaborative analysis of 12 U.S. case-control studies. II. Invasive epithelial ovarian cancers in white women. Am. J. Epidemiol. 136: 1184-1203, 1992. 158. Wilson, C. A.; Ramos, L.; Villasenor, M. R.; Anders, K. H.; Press, M. F.; Clarke, K.; Karlan, B.; Chen, J.-J.; Scully, R.; Livingston, D.; Zuch, R. H.; Kanter, M. H.; Cohen, S.; Calzone, F. J.; Slamon, D. J.: Localization of human BRCA1 and its loss in high-grade, non-inherited breast carcinomas. Nature Genet. 21: 236-240, 1999. 159. Wu, L. C.; Wang, Z. W.; Tsan, J. T.; Spillman, M. A.; Phung, A.; Xu, X. L.; Yang, M.-C. W.; Hwang, L.-Y.; Bowcock, A. M.; Baer, R.: Identification of a RING protein that can interact in vivo with the BRCA1 gene product. Nature Genet. 14: 430-440, 1996. 160. Xu, X.; Qiao, W.; Linke, S. P.; Cao, L.; Li, W.-M.; Furth, P. A.; Harris, C. C.; Deng, C.-X.: Genetic interactions between tumor suppressors Brca1 and p53 in apoptosis, cell cycle and tumorigenesis. Nature Genet. 28: 266-271, 2001. 161. Xu, X.; Weaver, Z.; Linke, S. P.; Li, C.; Gotay, J.; Wang, X.-W.; Harris, C. C.; Ried, T.; Deng, C.-X.: Centrosome amplification and a defective G(2)-M cell cycle checkpoint induce genetic instability in BRCA1 exon 11 isoform-deficient cells. Molec. Cell 3: 389-395, 1999. 162. Yarden, R. I.; Brody, L. C.: BRCA1 interacts with components of the histone deacetylase complex. Proc. Nat. Acad. Sci. 96: 4983-4988, 1999. 163. Yarden, R. I.; Pardo-Reoyo, S.; Sgagias, M.; Cowan, K. H.; Brody, L. C.: BRCA1 regulates the G2/M checkpoint by activating Chk1 kinase upon DNA damage. Nature Genet. 30: 265-269, 2002. 164. Zhang, S.; Grosse, F.: Domain structure of human nuclear DNA helicase II (RNA helicase A). J. Biol. Chem. 272: 11487-11494, 1997. 165. Zheng, L.; Pan, H.; Li, S.; Flesken-Nikitin, A.; Chen, P.-L.; Boyer, T. G.; Lee, W.-H.: Sequence-specific transcriptional corepressor function for BRCA1 through a novel zinc finger protein, ZBRK1. Molec. Cell 6: 757-768, 2000. 166. Zhong, Q.; Chen, C.-F.; Li, S.; Chen, Y.; Wang, C.-C.; Xiao, J.; Chen, P.-L.; Sharp, Z. D.; Lee, W.-H.: Association of BRCA1 with the hRad50-hMre11-p95 complex and the DNA damage response. Science 285: 747-750, 1999.
[0013927]4514.Ponnambalam, S.; Jackson, A. P.; LeBeau, M. M.; Pravtcheva, D.; Ruddle, F. H.; Alibert, C.; Parham, P.: Chromosomal location and some structural features of human clathrin light-chain genes (CLTA and CLTB). Genomics 24: 440-444, 1994.
[0013928]4515.Andersen, T. I.; Wooster, R.; Laake, K.; Collins, N.; Warren, W.; Skrede, M.; Eeles, R.; Tveit, K. M.; Johnston, S. R. D.; Dowsett, M.; Olsen, A. O.; Moller, P.; Stratton, M. R.; Borresen-Dale, A.-L. : Screening for ESR mutations in breast and ovarian cancer patients. Hum. Mutat. 9: 531-536, 1997.
[0013929]4516.Auboeuf, D.; Honig, A.; Berget, S. M.; O'Malley, B. W.: Coordinate regulation of transcription and splicing by steroid receptor coregulators. Science 298: 416-419, 2002.
[0013930]4517.Balleine, R. L.; Hunt, S. M. N.; Clarke, C. L.: Coexpression of alternatively spliced estrogen and progesterone receptor transcripts in human breast cancer. J. Clin. Endocr. Metab. 84: 1370-1377, 1999.
[0013931]4518.Becherini, L.; Gennari, L.; Masi, L.; Mansani, R.; Massart, F.; Morelli, A.; Falchetti, A.; Gonnelli, S.; Fiorelli, G.; Tanini, A.; Brandi, M. L.: Evidence of a linkage disequilibrium between polymorphisms in the human estrogen receptor-alpha gene and their relationship to bone mass variation in postmenopausal Italian women. Hum. Molec. Genet. 9: 2043-2050, 2000.
[0013932]4519.Bord, S.; Horner, A.; Beavan, S.; Compston, J.: Estrogen receptors alpha and beta are differentially expressed in developing human bone. J. Clin. Endocr. Metab. 86: 2309-2314, 2001.
[0013933]4520.Castagnoli, A.; Maestri, I.; Bernardi, F.; Del Senno, L.: PvuII RFLP inside the human estrogen receptor gene. Nucleic Acids Res. 15: 866 only, 1987.
[0013934]4521.Chaidarun, S. S.; Alexander, J. M.: A tumor-specific truncated estrogen receptor splice variant enhances estrogen-stimulated gene expression. Molec. Endocr. 12: 1355-1366, 1998.
[0013935]4522.Chiang, C.-H.; Cheng, K. W.; Igarashi, S.; Nathwani, P. S.; Leung, P. C. K.: Hormonal regulation of estrogen receptor alpha and beta gene expression in human granulosa-luteal cells in vitro. J. Clin. Endocr. Metab. 85: 3828-3839, 2000.
[0013936]4523.Clark, G. M.; McGuire, W. L.: Steroid receptors and other prognostic factors in primary breast cancer. Semin. Oncol. 15 (suppl. 1): 20-25, 1988.
[0013937]4524.Couse, J. F.; Hewitt, S. C.; Bunch, D. O.; Sar, M.; Walker, V. R.; Davis, B. J.; Korach, K. S.: Postnatal sex reversal of the ovaries in mice lacking estrogen receptors alpha and beta. Science 286: 2328-2331, 1999.
[0013938]4525.Davis, V. L.; Chan, C.-C.; Schoen, T. J.; Couse, J. F.; Chader, G. J.; Korach, K. S.: An estrogen receptor repressor induces cataract formation in transgenic mice. Proc. Nat. Acad. Sci. 99: 9427-9432, 2002.
[0013939]4526.Esmaeli, B.; Harvey, J. T.; Hewlett, B.: Immunohistochemical evidence for estrogen receptors in meibomian glands. Ophthalmology 107: 180-184, 2000.
[0013940]4527.Fan, S.; Wang, J.-A.; Yuan, R.; Ma, Y.; Meng, Q.; Erdos, M. R.; Pestell, R. G.; Yuan, F.; Auborn, K. J.; Goldberg, I. D.; Rosen, E. M.: BRCA1 inhibition of estrogen receptor signaling in transfected cells. Science 284: 1354-1356, 1999.
[0013941]4528.Fuqua, S. A. W.; Chamness, G. C.; McGuire, W. L.: Estrogen receptor mutations in breast cancer. J. Cell. Biochem. 51: 135-139, 1993.
[0013942]4529.Gosden, J. R.; Middleton, P. G.; Rout, D.: Localization of the human oestrogen receptor gene to chromosome 6q24-q27 by in situ hybridization. Cytogenet. Cell Genet. 43: 218-220, 1986.
[0013943]4530.Green, S.; Walter, P.; Kumar, V.; Krust, A.; Bornert, J.-M.; Argos, P.; Chambon, P.: Human oestrogen receptor cDNA: sequence, expression and homology to v-erb-A. Nature 320: 134-139, 1986.
[0013944]4531.Greene, G. L.; Gilna, P.; Waterfield, M.; Baker, A.; Hort, Y.; Shine, J.: Sequence and expression of human estrogen receptor complementary DNA. Science 231: 1150-1154, 1986.
[0013945]4532.Heine, P. A.; Taylor, J. A.; Iwamoto, G. A.; Lubahn, D. B.; Cooke, P. S.: Increased adipose tissue in male and female estrogen receptor-alpha knockout mice. Proc. Nat. Acad. Sci. 97: 12729-12734, 2000.
[0013946]4533.Herrington, D. M.; Howard, T. D.; Hawkins, G. A.; Reboussin, D. M.; Xu, J.; Zheng, S. L.; Brosnihan, K. B.; Meyers, D. A.; Bleecker, E. R.: Estrogen-receptor polymorphisms and effects of estrogen replacement on high-density lipoprotein cholesterol in women with coronary disease. New Eng. J. Med. 346: 967-974, 2002.
[0013947]4534.Issa, J.-P. J.; Ottaviano, Y. L.; Celano, P.; Hamilton, S. R.; Davidson, N. E.; Baylin, S. B.: Methylation of the oestrogen receptor CpG island links ageing and neoplasia in human colon. Nature Genet. 7: 536-540, 1994.
[0013948]4535.Jeltsch, J. M.; Roberts, M.; Schatz, C.; Garnier, J. M.; Brown, A. M. C.; Chambon, P.: Structure of the human oestrogen-responsive gene pS2. Nucleic Acids Res. 15: 1401-1414, 1987.
[0013949]4536.Bing, D. H.; Almeda, S.; Isliker, H.; Lahav, J.; Hynes, R. O.: Fibronectin binds to the C1q component of complement. Proc. Nat. Acad. Sci. 79: 4198-4201, 1982.
[0013950]4537.Bittner, M.; Meltzer, P.; Chen, Y.; Jiang, Y.; Seftor, E.; Hendrix, M.; Radmacher, M.; Simon, R.; Yakhini, Z.; Ben-Dor, A.; Sampas, N.; Dougherty, E.; and 16 others: Molecular classification of cutaneous malignant melanoma by gene expression profiling. Nature 406: 536-540, 2000.
[0013951]4538.Clark, E. A.; Golub, T. R.; Lander, E. S.; Hynes, R. O.: Genomic analysis of metastasis reveals an essential role for RhoC. Nature 406: 532-535, 2000.
[0013952]4539.Clemmensen, I.: Fibronectin and its role in connective tissue diseases. (Editorial) Europ. J. Clin. Invest. 11: 145-146, 1981.
[0013953]4540.Croce, C. M.: Personal Communication. Philadelphia, Pa. 1/12/1983.
[0013954]4541.Eun, C. K.; Klinger, H. P.: Human chromosome 11 affects the expression of fibronectin fibers in human-times-mouse cell hybrids. Cytogenet. Cell Genet. 27: 57-65, 1980.
[0013955]4542.Gutman, A.; Kornblihtt, A. R.: Identification of a third region of cell-specific alternative splicing in human fibronectin mRNA. Proc. Nat. Acad. Sci. 84: 7179-7182, 1987.
[0013956]4543.Henry, I.; Jeanpierre, M.; Weil, D.; Grzeschik, K. H.; Ramirez, F.; Junien, C.: The structural gene for fibronectin (FN) maps to 2q323-qter. (Abstract) Cytogenet. Cell Genet. 40: 650 only, 1985.
[0013957]4544.Hirano, H.; Yamada, Y.; Sullivan, M.; de Crombrugghe, B.; Pastan, I.; Yamada, K. M.: Isolation of genomic DNA clones spanning the entire fibronectin gene. Proc. Nat. Acad. Sci. 80: 46-50, 1983.
[0013958]4545.Jhanwar, S. C.; Jensen, J. T.; Kaelbling, M.; Chaganti, R. S. K.; Klinger, H. P.: In situ localization of human fibronectin (FN) genes to chromosome regions 2p14-p16, 2q34-q36, and 11q12.1-q13.5 in germ line cells, but to chromosome 2 sites only in somatic cells. Cytogenet. Cell Genet. 41: 47-53, 1986.
[0013959]4546.Koch, G. A.; Schoen, R. C.; Klebe, R. J.; Shows, T. B.: Assignment of a fibronectin gene to human chromosome 2 using monoclonal antibodies. Exp. Cell Res. 141: 293-302, 1982.
[0013960]4547.Kornblihtt, A. R.; Umezawa, K.; Vibe-Pedersen, K.; Baralle, F. E.: Primary structure of human fibronectin: differential splicing may generate at least 10 polypeptides from a single gene. EMBO J. 4: 1755-1759, 1985.
[0013961]4548.Kornblihtt, A. R.; Vibe-Pedersen, K.; Baralle, F. E.: Isolation and characterization of cDNA clones for human and bovine fibronectins. Proc. Nat. Acad. Sci. 80: 3218-3222, 1983.
[0013962]4549.Kornblihtt, A. R.; Vibe-Pedersen, K.; Baralle, F. E.: Human fibronectin: molecular cloning evidence for two mRNA species differing by an internal segment coding for a structural domain. EMBO J. 3: 221-226, 1984.
[0013963]4550.Kurkinen, M.; Vartio, T.; Vaheri, A.: Polypeptides of human plasma fibronectin are similar but not identical. Biochim. Biophys. Acta 624: 490-498, 1980.
[0013964]4551.Matsuura, H.; Takio, K.; Titani, K.; Greene, T.; Levery, S. B.; Salyan, M. E. K.; Hakomori, S.: The oncofetal structure of human fibronectin defined by monoclonal antibody FDC-6. J. Biol. Chem. 263: 3314-3322, 1988.
[0013965]4552.McDonagh, J.: Fibronectin: a molecular glue. Arch. Path. Lab. Med. 105: 393-396, 1981.
[0013966]4553.Mosesson, M. W.; Amrani, D. L.: The structure and biologic activities of plasma fibronectin. Blood 56: 145-158, 1980.
[0013967]4554.Odermatt, E.; Tamkun, J. W.; Hynes, R. O.: Repeating modular structure of the fibronectin gene: relationship to protein structure and subunit variation. Proc. Nat. Acad. Sci. 82: 6571-6575, 1985.
[0013968]4555.Owerbach, D.; Doyle, D.; Shows, T. B.: Genetics of the large, external, transformationsensitive (LETS) protein: assignment of a gene coding for expression of LETS to human chromosome 8. Proc. Nat. Acad. Sci. 75: 5640-5644, 1978.
[0013969]4556.Prowse, K.; Tricoli, J.; Klebe, R.; Shows, T.: Chromosome 2 assignment of the structural gene for fibronectin (FN) using a cloned probe. (Abstract) Cytogenet. Cell Genet. 40: 724 only, 1985.
[0013970]4557.Prowse, K. R.; Tricoli, J. V.; Klebe, R. J.; Shows, T. B.: Assignment of the human fibronectin structural gene to chromosome 2. Cytogenet. Cell Genet. 41: 42-46, 1986.
[0013971]4558.Rennard, S. I.; Church, R. L.; Rohrbach, D. H.; Shupp, D. E.; Abe, S.; Hewitt, A. T.; Murray, J. C.; Martin, G. R.: Localization of the human fibronectin (FN) gene on chromosome 8 by a specific enzyme immunoassay. Biochem. Genet. 19: 551-566, 1981.
[0013972]4559.Ridley, A.: Molecular switches in metastasis. Nature 406: 466-467, 2000.
[0013973]4560.Li, Q. J.; Ashraf, M. F.; Shen, D.; Green, W. R.; Stark, W. J.; Chan, C.-C; O'Brien, T. P.: The role of apoptosis in the pathogenesis of Fuchs endothelial dystrophy of the cornea. Arch. Ophthal. 119: 1597-1604, 2001.
[0013974]4561.Paigen, K.: Acid hydrolases as models of genetic control. Ann. Rev. Genet. 13: 417-466, 1979.
[0013975]4562.McCurley, R. S.; Recinos, A., III; Olsen, A. S.; Gingrich, J. C.; Szczepaniak, D.; Cameron, H. S.; Krauss, R.; Weston, B. W.: Physical maps of human alpha(1,3)fucosyltransferase genes FUT3-FUT6 on chromosomes 19p13.3 and 11q21. Genomics 26: 142-146, 1995.
[0013976]4563.Weston, B. W.; Nair, R. P.; Larsen, R. D.; Lowe, J. B.: Isolation of a novel human alpha(1,3)fucosyltransferase gene and molecular comparison to the human Lewis blood group alpha(1,3/1,4)fucosyltransferase gene: syntenic, homologous, nonallelic genes encoding enzymes with distinct acceptor substrate specificities. J. Biol. Chem. 267: 4152-4160, 1992.
[0013977]4564.Weston, B. W.; Smith, P. L.; Kelly, R. J.; Lowe, J. B.: Molecular cloning of a fourth member of a human alpha(1,3)fucosyltransferase gene family: multiple homologous sequences that determine expression of the Lewis x, sialyl Lewis x, and difucosyl sialyl Lewis x epitopes. J. Biol. Chem. 267: 24575-24584, 1992.
[0013978]4565.Brinkman-Van der Linden, E. C. M.; Mollicone, R.; Oriol, R.; Larson, G.; Van den Eijnden, D. H.; Van Dijk, W.: A missense mutation in the FUT6 gene results in total absence of alpha-3-fucosylation of human alpha-1-acid glycoprotein. J. Biol. Chem. 271: 14492-14495, 1996.
[0013979]4566.Herbschleb-Voogt, E.; Monteba-van Heuvel, M.; Wijnen, L. M. M.; Westerveld, A.; Pearson, P. L.; Meera Khan, P.: Chromosomal assignment and regional localization of CS, ENO-2, GAPDH, LDH-B, PEPB, and TPI in man-rodent cell hybrids. Cytogenet. Cell Genet. 22: 482-486, 1978.
[0013980]4567.Brook, J. D.; Shaw, D. J.; Meredith, A. L.; Worwood, M.; Cowell, J.; Scott, J.; Knott, T. J.; Litt, M.; Bufton, L.; Harper, P. S.: A somatic cell hybrid panel for chromosome 19: localization of known genes and RFLPs and orientation of the linkage group. (Abstract) Cytogenet. Cell Genet. 40: 590-591, 1985.
[0013981]4568.Smith, J. S.; Tachibana, I.; Pohl, U.; Lee, H. K.; Thanarajasingam, U.; Portier, B. P.; Ueki, K.; Ramaswamy, S.; Billings, S. J.; Mohrenweiser, H. W.; Louis, D. N.; Jenkins, R. B.: A transcript map of the chromosome 19q-arm glioma tumor suppressor region. Genomics 64: 44-50, 2000.
[0013982]4569.Staal, F. J. T.; van der Luijt, R. B.; Baert, M. R. M.; van Drunen, J.; van Bakel, H.; Peters, E.; de Valk, I.; van Amstel, H. K. P.; Taphoorn, M. J. B.; Jansen, G. H.; van Veelen, C. W. M.; Burgering, B.; Staal, G. E. J.: A novel germline mutation of PTEN associated with brain tumours of multiple lineages. Brit. J. Cancer 86: 1586-1591, 2002.
[0013983]4570.Zhou, X.-P.; Smith, W. M.; Gimm, O.; Mueller, E.; Gao, X.; Sarraf, P.; Prior, T. W.; Plass, C.; van Deimling, A.; Black, P. M.; Yates, A. J.; Eng, C.: Over-representation of PPAR-gamma sequence variants in sporadic cases of glioblastoma multiforme: preliminary evidence for common low penetrance modifiers for brain tumour risk in the general population. J. Med. Genet. 37: 410-414, 2000.
[0013984]4571.Bingham, C.; Bulman, M. P.; Ellard, S.; Allen, L. I. S.; Lipkin, G. W.; van't Hoff, W. G.; Woolf, A. S.; Rizzoni, G.; Novelli, G.; Nicholls, A. J.; Hattersley, A. T.: Mutations in the hepatocyte nuclear factor-1-beta gene are associated with familial hypoplastic glomerulocystic kidney disease. Am. J. Hum. Genet. 68: 219-224, 2001.
[0013985]4572.Kaplan, B. S.; Gordon, I.; Pincott, J.; Barratt, T. M.: Familial hypoplastic glomerulocystic kidney disease: a definite entity with dominant inheritance. Am. J. Med. Genet. 34: 569-573, 1989.
[0013986]4573.Rizzoni, G.; Loirat, C.; Levy, M.; Milanesi, C.; Zachello, G.; Mathieu, H.: Familial hypoplastic glomerulocystic kidney: a new entity? Clin. Nephrol. 18: 263-268, 1982.
[0013987]4574.Fong, H. K. W.; Yoshimoto, K. K.; Eversole-Cire, P.; Simon, M. I.: Identification of a GTP-binding protein alpha subunit that lacks an apparent ADP-ribosylation site for pertussis toxin. Proc. Nat. Acad. Sci. 85: 3066-3070, 1988.
[0013988]4575.Matsuoka, M.; Itoh, H.; Kozasa, T.; Kaziro, Y.: Sequence analysis of cDNA and genomic DNA for a putative pertussis toxin-insensitive guanine nucleotide-binding regulatory protein alpha subunit. Proc. Nat. Acad. Sci. 85: 5384-5388, 1988.
[0013989]4576.Wilkie, T. M.; Gilbert, D. J.; Olsen, A. S.; Chen, X.-N.; Amatruda, T. T.; Korenberg, J. R.; Trask, B. J.; de Jong, P.; Reed, R. R.; Simon, M. I.; Jenkins, N. A.; Copeland, N. G.: Evolution of the mammalian G protein alpha subunit multigene family. Nature Genet. 1: 85-91, 1992.
[0013990]4577.Magovcevic, I.; Ang, S.-L.; Seidman, J. G.; Tolman, C. J.; Neer, E. J.; Morton, C. C.: Regional localization of the human G protein alpha(i2) (GNAI2) gene: assignment to 3p21 and a related sequence (GNAI2L) to 12p12-p13. Genomics 12: 125-129, 1992.
[0013991]4578.Colombo, M. P.; Martinotti, A.; Howard, T. A.; Schneider, C.; D'Eustachio, P.; Seldin, M. F.: Localization of growth arrest-specific genes on mouse chromosomes 1, 7, 8, 11, 13, and 16. Mammalian Genome 2: 130-134, 1992.
[0013992]4579.Del Sal, G.; Collavin, L.; Ruaro, M. E.; Edomi, P.; Saccone, S.; Della Valle, G.; Schneider, C.: Structure, function, and chromosome mapping of the growth-suppressing human homologue of the murine gas1 gene. Proc. Nat. Acad. Sci. 91: 1848-1852, 1994.
[0013993]4580.Del Sal, G.; Ruaro, M. E.; Philipson, L.; Schneider, C.: The growth arrest-specific gene, gas1, is involved in growth suppression. Cell 70: 595-607, 1992.
[0013994]4581.Evdokiou, A.; Webb, G. C.; Peters, G. B.; Dobrovic, A.; O'Keefe, D. S.; Forbes, I. J.; Cowled, P. A.: Localization of the human growth arrest-specific gene (GAS1) to chromosome bands 9q21.3-q22, a region frequently deleted in myeloid malignancies. Genomics 18: 731-733, 1993.
[0013995]4582.Schneider, C.; King, R. M.; Philipson, L.: Genes specifically expressed at growth arrest of mammalian cells. Cell 54: 787-793, 1988.
[0013996]4583.Webb, G. C.; Cowled, P. A.; Evdokiou, A.; Ford, J. H.; Forbes, I. J.: Assignment, by in situ hybridization, of the growth arrest-specific gene, Gas-1, to mouse chromosome 13, bands B3-C2. Genomics 14: 548-549, 1992.
[0013997]4584.Lebo, R. V.; Cheung, M.-C.; Bruce, B. D.: Rapid gene mapping by dual laser chromosome sorting and spot blot DNA analysis. (Abstract) Am. J. Hum. Genet. 36: 101S only, 1984.
[0013998]4585.Kudo, J.; Chao, L.-Y.; Narni, F.; Saunders, G. F.: Structure of the human gene encoding the invariant gamma-chain of class II histocompatibility antigens. Nucleic Acids Res. 13: 8827-8841, 1985.
[0013999]4586.O'Sullivan, D. M.; Larhammar, D.; Wilson, M. C.; Peterson, P. A.; Quaranta, V.: Structure of the human Ia-associated invariant (gamma)-chain gene: identification of 5-prime sequences shared with major histocompatibility complex class II genes. Proc. Nat. Acad. Sci. 83: 4484-4488, 1986.
[0014000]4587.Riese, R. J.; Shi, G.-P.; Villadangos, J.; Stetson, D.; Driessen, C.; Lennon-Dumenil, A.-M.; Chu, C.-L.; Naumov, Y.; Behar, S. M.; Ploegh, H.; Locksley, R.; Chapman, H. A.: Regulation of CD1 function and NK1.1+ T cell selection and maturation by cathepsin S. Immunity 15: 909-919, 2001.
[0014001]4588.Topilski, I.; Harmelin, A.; Flavell, R. A.; Levo, Y.; Shachar, I.: Preferential Th1 immune response in invariant chain-deficient mice. J. Immun. 168: 1610-1617, 2002.
[0014002]4589.Abderrahim, H.; Sambucy, J.-L.; Iris, F.; Ougen, P.; Billault, A.; Chumakov, I. M.; Dausset, J.; Cohen, D.; Le Paslier, D.: Cloning the human major histocompatibility complex in YACs. Genomics 23: 520-527, 1994.
[0014003]4590.Adman, R.; Pious, D. A.: Isoantigenic variants: isolation from human diploid cells in culture. Science 168: 370-372, 1970.
[0014004]4591.Arnaiz-Villena, A.; Festenstein, H.: HLA genotyping by using spermatozoa: evidence for haploid gene expression. Lancet II: 707-709, 1976.
[0014005]4592.Auffray, C.; Strominger, J. L.: Molecular genetics of the human major histocompatibility complex. Adv. Hum. Genet. 15: 197-247, 1986.
[0014006]4593.Awdeh, Z. L.; Raum, D.; Yunis, E. J.; Alper, C. A.: Extended HLA/complement allele haplotypes: evidence for T/t-like complex in man. Proc. Nat. Acad. Sci. 80: 259-263, 1983.
[0014007]4594.Bach, F. H.; Amos, D. B.: Hu-1 major histocompatibility locus in man. Science 156: 1506-1508, 1967.
[0014008]4595.Bach, M. L.; Bach, F. H.: The genetics of histocompatibility. Hosp. Practice 5(8): 33-44, 1970.
[0014009]4596.Balner, H.: The major histocompatibility complex of primates: evolutionary aspects and comparative histogenetics. Phil. Trans. Roy. Soc. London B 292: 109-119, 1981.
[0014010]4597.Balner, H.; D'Amaro, J.; Visser, T. P.: Tissue typing of chimpanzees: I. Evidence for two allelic series of leukocyte antigens. Transplant. Proc. 6: 141-149, 1974.
[0014011]4598.Berger, R.; Bernheim, A.; Sasportes, M.; Hauptmann, G.; Hors, J.; Legrand, L.; Fellous, M.: Regional mapping of the HLA on the short arm of chromosome 6. Clin. Genet. 15: 245-251, 1979.
[0014012]4599.Bernard, J.: La decouverte du systeme principal d'histocompatibilite de l'homme. (Editorial) Presse Med. 75: 2369 only, 1967.
[0014013]4600.Bodmer, W. F.: Personal Communication. London, England 9/26/1986.
[0014014]4601.Bodmer, W. F.; Bodmer, J. G.; Adler, S.; Payne, R.; Bialek, J. : Genetics of '4' and 'LA' human leukocyte groups. Ann. N.Y. Acad. Sci. 129: 473-489, 1966.
[0014015]4602.Bodmer, W. F.; Bodmer, J. G.; Tripp, M.: Recombination between the LA and 4 loci of the HL-A system.In: Histocompatibility Testing 1970. Copenhagen: Munksgaard (pub.) 1970. Pp. 187-191.
[0014016]4603.Bodmer, W. F. (ed.): Evolutionary significance of the HL-A system. Nature 237: 139-145, 1972.
[0014017]4604.Bodmer, W. F. (ed.): The HLA System (17 papers). Brit. Med. Bull. 34(3): 213-316, 1978.
[0014018]4605.Borgaonkar, D. S.; Bias, W. B.: HL-A loci and chromosome 6. Birth Defects Orig. Art. Ser. X(3): 67-68, 1974.
[0014019]4606.Borgaonkar, D. S.; Bias, W. B.; Chase, G. A.; Sadasivan, G.; Herr, H. M.; Golomb, H. M.; Bahr, G. F.; Kunkel, L. M.: Identification of C6-G21 translocation chromosome by the Q-M and Giemsa banding techniques in a patient with Down's syndrome, with possible assignment of Gm locus. Clin. Genet. 4: 53-57, 1973.
[0014020]4607.Breuning, M. H.; van den Berg-Loonen, E. M.; Bernini, L. F.; Bijlsma, J. B.; van Loghem, E.; Meera Khan, P.; Nijenhuis, L. E.: Localization of HLA on the short arm of chromosome 6. Hum. Genet. 37: 131-139, 1977.
[0014021]4608.Bull, R. W.; Benson, J. W.; Pearson, G.; Mann, J. D.: HLA substantiation of a trisomic human chromosome 6. Transplant. Proc. 10: 747-748, 1978.
[0014022]4609.Campbell, R. D.; Trowsdale, J.: Map of the human MHC. Immun. Today 14: 349-352, 1993.
[0014023]4610.Cardoso, C. S.; Alves, H.; Mascarenhas, M.; Goncalves, R.; Oliveira, P.; Rodrigues, P.; Cruz, E.; de Sousa, M.; Porto, G.: Co-selection of the H63D mutation and the HLA-A29 allele: a new paradigm of linkage disequilibrium? Immunogenetics 53: 1002-1008, 2002.
[0014024]4611.Carrington, M.; Nelson, G. W.; Martin, M. P.; Kissner, T.; Vlahov, D.; Goedert, J. J.; Kaslow, R.; Buchbinder, S.; Hoots, K.; O'Brien, S. J.: HLA and HIV-1: heterozygote advantage and B*35-Cw*04 disadvantage. Science 283: 1748-1752, 1999.
[0014025]4612.Ceppellini, R.; Van Rood, J. J.: The HL-A system. I. Genetics and molecular biology. Seminars Hemat. 11: 233-252, 1974.
[0014026]4613.Cohen, D.; Paul, P.; Font, M.-P.; Cohen, O.; Sayagh, B.; Marcadet, A.; Busson, M.; Mahouy, G.; Cann, H. M.; Dausset, J.: Analysis of HLA class I genes with restriction endonuclease fragments: implications for polymorphism of the human major histocompatibility complex. Proc. Nat. Acad. Sci. 80: 6289-6292, 1983.
[0014027]4614.Colombani, J.: Changing the name of the major histocompatibility complex. Res. Immun. 143: 411-417, 1992.
[0014028]4615.Dausset, J.: The major histocompatibility complex in man: past, present, and future concepts. Science 213: 1469-1474, 1981.
[0014029]4616.Dausset, J.: Personal Communication. Paris, France 1/12/1983.
[0014030]4617.Dausset, J.: Similarities between the HL-A system and other immunogenetic systems. (Editorial) Vox Sang. 23: 153-164, 1972.
[0014031]4618.Asakawa, J.; Satoh, C.; Takahashi, N.; Fujita, M.; Kaneko, J.; Goriki, K.; Hazama, R.; Kageoka, T.: Electrophoretic variants of blood proteins in Japanese: III. Triosephosphate isomerase. Hum. Genet. 68: 185-188, 1984.
[0014032]4619.Ationu, A.; Humphries, A.; Wild, B.; Carr, T.; Will, A.; Arya, R.; Layton, D. M.: Towards enzyme-replacement treatment in triosephosphate isomerase deficiency. Lancet 353: 1155-1156, 1999.
[0014033]4620.Bellingham, A. J.; Lestas, A. N.: Prenatal diagnosis of triose phosphate isomerase deficiency. (Letter) Lancet 335: 230, 1990.
[0014034]4621.Bellingham, A. J.; Lestas, A. N.; Williams, L. H. P.; Nicolaides, K. H.: Prenatal diagnosis of a red-cell enzymopathy: triose phosphate isomerase deficiency. Lancet II: 419-421, 1989.
[0014035]4622.Boyer, T. G.; Krug, J. R.; Maquat, L. E.: Transcriptional regulatory sequences of the housekeeping gene for human triosephosphate isomerase. J. Biol. Chem. 264: 5177-5187, 1989.
[0014036]4623.Boyer, T. G.; Maquat, L. E.: Minimal sequence and factor requirements for the initiation of transcription from an atypical, TATATAA box-containing housekeeping promoter. J. Biol. Chem. 265: 20524-20532, 1990.
[0014037]4624.Brock, D. J. H.; Singer, J. D.: Red cell triosephosphate isomerase gene. (Letter) Lancet II: 1136, 1970.
[0014038]4625.Matsushime, H.; Jinno, A.; Takagi, N.; Shibuya, M.: A novel mammalian protein kinase gene (mak) is highly expressed in testicular germ cells at and after meiosis. Molec. Cell. Biol. 10: 2261-2268, 1990.
[0014039]4626.Taketo, M.; Jinno, A.; Yamaguchi, S.; Matushime, H.; Shibuya, M.; Seldin, M. F.: Mouse Mak gene for male germ cell-associated kinase maps to chromosome 13. Genomics 19: 397-398, 1994.
[0014040]4627.Jiang, C.; Atkinson, D.; Towbin, J. A.; Splawski, I.; Lehmann, M. H.; Li, H.; Timothy, K.; Taggart, R. T.; Schwartz, P. J.; Vincent, G. M.; Moss, A. J.; Keating, M. T.: Two long QT syndrome loci map to chromosomes 3 and 7 with evidence for further heterogeneity. Nature Genet. 8: 141-147, 1994.
[0014041]4628.Jongbloed, R. J. E.; Wilde, A. A. M.; Geelen, J. L. M. C.; Doevendans, P.; Schaap, C.; Van Langen, I.; van Tintelen, J. P.; Cobben, J. M.; Beaufort-Krol, G. C. M.; Geraedts, J. P. M.; Smeets, H. J. M.: Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. Hum. Mutat. 13: 301-310, 1999.
[0014042]4629.Priori, S. G.; Barhanin, J.; Hauer, R. N. W.; Haverkamp, W.; Jongsma, H. J.; Kleber, A. G.; McKenna, W. J.; Roden, D. M.; Rudy, Y.; Schwartz, K.; Schwartz, P. J.; Towbin, J. A.; Wilde, A. M.: Genetic and molecular basis of cardiac arrhythmias: impact on clinical management. Parts I and II. Circulation 99: 518-528, 1999.
[0014043]4630.Priori, S. G.; Barhanin, J.; Hauer, R. N. W.; Haverkamp, W.; Jongsma, H. J.; Kleber, A. G.; McKenna, W. J.; Roden, D. M.; Rudy, Y.; Schwartz, K.; Schwartz, P. J.; Towbin, J. A.; Wilde, A. M.: Genetic and molecular basis of cardiac arrhythmias: impact on clinical management. Part III. Circulation 99: 674-681, 1999.
[0014044]4631.Priori, S. G.; Napolitano, C.; Schwartz, P. J.: Low penetrance in the long QT syndrome: clinical impact. Circulation 99: 529-533, 1999.
[0014045]4632.Splawski, I.; Shen, J.; Timothy, K. W.; Vincent, G. M.; Lehmann, M. H.; Keating, M. T.: Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1. Genomics 51: 86-97, 1998.
[0014046]4633.Tanaka, T.; Nagai, R.; Tomoike, H.; Takata, S.; Yano, K.; Yabuta, K.; Haneda, N. Nakano, O.; Shibata, A.; Sawayama, T.; Kasai, H.; Yazaki, Y.; Nakamura, Y.: Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome. Circulation 95: 565-567, 1997.
[0014047]4634.Zareba, W.; Moss, A. J.; Schwartz, P. J.; Vincent, G. M.; Robinson, J. L.; Priori, S. G.; Benhorin, J.; Locati, E. H.; Towbin, J. A.; Keating, M. T.; Lehmann, M. H.; Hall, W. J.; International Long-QT Syndrome Registry Research Group: Influence of the genotype on the clinical course of the long-QT syndrome. New Eng. J. Med. 339: 960-965, 1998.
[0014048]4635.Caffey, J. P.; Christensen, W. R.: Personal Communication. Pittsburgh, Pa. and Salt Lake City, Utah 1963.
[0014049]4636.Jacenko, O.; Lu Valle, P. A.; Olsen, B. R.: Spondylometaphyseal dysplasia in mice carrying a dominant negative mutation in a matrix protein specific for cartilage-to-bone transition. Nature 365: 56-61, 1993.
[0014050]4637.Stephens, F. E.: An achondroplastic mutation and the nature of its inheritance. J. Hered. 34: 229-235, 1943.
[0014051]4638.Wallis, G. A.; Rash, B.; Sykes, B.; Bonaventure, J.; Maroteaux, P.; Zabel, B.; Wynne-Davies, R.; Grant, M. E.; Boot-Handford, R. P. : Mutations within the gene encoding the alpha-1(X) chain of type X collagen (COL1A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia. J. Med. Genet. 33: 450-457, 1996.
[0014052]4639.Warman, M. L.; Abbott, M.; Apte, S. S.; Hefferon, T.; McIntosh, I.; Cohn, D. H.; Hecht, J. T.; Olsen, B. R.; Francomano, C. A.: A type X collagen mutation causes Schmid metaphyseal chondrodysplasia. Nature Genet. 5: 79-82, 1993.
[0014053]4640.Boyes, J.; Bird, A.: DNA methylation inhibits transcription indirectly via a methyl-CpG binding protein. Cell 64: 1123-1134, 1991.
[0014054]4641.Cross, S. H.; Meehan, R. R.; Nan, X.; Bird, A.: A component of the transcriptional repressor MeCP1 shares a motif with DNA methyltransferase and HRX proteins. Nature Genet. 16: 256-259, 1997.
[0014055]4642.Hendrich, B.; Abbott, C.; McQueen, H.; Chambers, D.; Cross, S.; Bird, A.: Genomic structure and chromosomal mapping of the murine and human Mbd1, Mbd2, Mbd3, and Mbd4 genes. Mammalian Genome 10: 906-912, 1999.
[0014056]4643.Jobsis, G. J.; Bolhuis, P. A.; Boers, J. M.; Baas, F.; Wolterman, R. A.; Hensels, G. W.; de Visser, M.: Genetic localization of Bethlem myopathy. Neurology 46: 779-782, 1996.
[0014057]4644.Jobsis, G. J.; Keizers, H.; Vreijling, J. P.; de Visser, M.; Speer, M. C.; Wolterman, R. A.; Baas, F.; Bohlhuis, P. A.: Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. Nature Genet. 14: 113-115, 1996.
[0014058]4645.Hempstead, B. L.; Martin-Zanca, D.; Kaplan, D. R.; Parada, L. F.; Chao, M. V.: Highaffinity NGF binding requires coexpression of the trk proto-oncogene and the low-affinity NGF receptor. Nature 350: 678-683, 1991.
[0014059]4646.Huebner, K.; Isobe, M.; Chao, M.; Bothwell, M.; Ross, A. H.; Finan, J.; Hoxie, J. A.; Sehgal, A.; Buck, C. R.; Lanahan, A.; Nowell, P. C.; Koprowski, H.; Croce, C. M.: The nerve growth factor receptor gene is at human chromosome region 17q12-17q22, distal to the chromosome 17 breakpoint in acute leukemias. Proc. Nat. Acad. Sci. 83: 1403-1407, 1986.
[0014060]4647.Ip, N. Y.; Stitt, T. N.; Tapley, P.; Klein, R.; Glass, D. J.; Fandl, J.; Greene, L. A.; Barbacid, M.; Yancopoulos, G. D.: Similarities and differences in the way neurotrophins interact with the Trk receptors in neuronal and nonneuronal cells. Neuron 10: 137-149, 1993.
[0014061]4648.Johnson, D.; Lanahan, A.; Buck, C. R.; Sehgal, A.; Morgan, C.; Mercer, E.; Bothwell, M.; Chao, M.: Expression and structure of the human NGF receptor. Cell 47: 545-554, 1986.
[0014062]4649.Lee, K. F.; Li, E.; Huber, J.; Landis, S. C.; Sharpe, A. H.; Chao, M. V.; Jaenisch, R.: Targeted mutation of the gene encoding the low affinity NGF receptor p75 leads to deficits in the peripheral sensory nervous system. Cell 69: 737-749, 1992.
[0014063]4650.Mischel, P. S.; Smith, S. G.; Vining, E. R.; Valletta, J. S.; Mobley, W. C.; Reichardt, L. F.: The extracellular domain of p75(NTR) is necessary to inhibit neurotrophin-3 signaling through TrkA. J. Biol. Chem. 276: 11294-11301, 2001.
[0014064]4651.Rettig, W. J.; Thomson, T. M.; Spengler, B. A.; Biedler, J. L.; Old, L. J.: Assignment of human nerve growth factor receptor gene to chromosome 17 and regulation of receptor expression in somatic cell hybrids. Somat. Cell Molec. Genet. 12: 441-447, 1986.
[0014065]4652.Tuffereau, C.; Benejean, J.; Blondel, D.; Kieffer, B.; Flamand, A.: Low-affinity nervegrowth factor receptor (p75NTR) can serve as a receptor for rabies virus. EMBO J. 17: 7250-7259, 1998.
[0014066]4653.Welcher, A. A.; Bitler, C. M.; Radeke, M. J.; Shooter, E. M.: Nerve growth factor binding domain of the nerve growth factor receptor. Proc. Nat. Acad. Sci. 88: 159-163, 1991.
[0014067]4654.Chuang, H.; Prescott, E. D.; Kong, H.; Shields, S.; Jordt, S.-E.; Basbaum, A. I.; Chao, M. V.; Julius, D.: Bradykinin and nerve growth factor release the capsaicin receptor from PtdIns(4,5)P2-mediated inhibition. Nature 411: 957-962, 2001.
[0014068]4655.Darby, J. K.; Feder, J.; Selby, M.; Riccardi, V.; Ferrell, R.; Siao, D.; Goslin, K.; Rutter, W.; Shooter, E. M.; Cavalli-Sforza, L. L.: A discordant sibship analysis between beta-NGF and neurofibromatosis. Am. J. Hum. Genet. 37: 52-59, 1985.
[0014069]4656.Mitchell, E. L. D.; Jones, D.; White, G. R. M.; Varley, J. M.; Santibanez Koref, M. F.: Determination of the gene order of the three loci CD2, NGFB, and NRAS at human chromosome band 1p13 and refinement of their localisation at the subband level by fluorescence in situ hybridization. Cytogenet. Cell Genet. 70: 183-185, 1995.
[0014070]4657.Beauchemin, N.; Draber, P.; Dveksler, G.; Gold, P.; Gray-Owen, S.; Grunert, F.; Hammarstrom, S.; Holmes, K. V.; Karlsson, A.; Kuroki, M.; Lin, S.-H.; Lucka, L.; and 13 others: Redefined nomenclature for members of the carcinoembryonic antigen family. Exp. Cell Res. 252: 243-249, 1999.
[0014071]4658.Willcocks, T. C.; Craig, S. P.; Craig, I. W.: Assignment of the coding sequence for carcinoembryonic antigen (CEA) and normal cross-reacting antigen (NCA) to human chromosome 19q13. Ann. Hum. Genet. 53: 141-148, 1989.
[0014072]4659.Qian, F.; Kruse, U.; Lichter, P.; Sippel, A. E.: Chromosomal localization of the four genes (NFIA, B, C, and X) for the human transcription factor nuclear factor I by FISH. Genomics 28: 66-73, 1995.
[0014073]4660.Auphan, N.; DiDonato, J.A.; Rosette, C.; Helmberg, A.; Karin, M. : Immunosuppression by glucocorticoids: inhibition of NF-kappa-B activity through induction of I-kappa-B synthesis. Science 270: 286-290, 1995.
[0014074]4661.Baeuerle, P. A.: I-kappa-B--NF-kappa-B structures: at the interface of inflammation control. Cell 95: 729-731, 1998.
[0014075]4662.Haskill, S.; Beg, A. A.; Tompkins, S. M.; Morris, J. S.; Yurochko, A. D.; Sampson-Johannes, A.; Mondal, K.; Ralph, P.; Baldwin, A. S., Jr.: Characterization of an immediate-early gene induced in adherent monocytes that encodes I-kappa-B-like activity. Cell 65: 1281-1289, 1991.
[0014076]4663.Huxford, T.; Huang, D.-B.; Malek, S.; Ghosh, G.: The crystal structure of the I-kappa-Balpha/ NF-kappa-B complex reveals mechanisms of NF-kappa-B inactivation. Cell 95: 759-770, 1998.
[0014077]4664.Ito, C. Y.; Adey, N.; Bautch, V. L.; Baldwin, A. S., Jr.: Structure and evolution of the human IKBA gene. Genomics 29: 490-495, 1995.
[0014078]4665.Jacobs, M. D.; Harrison, S. C.: Structure of an I-kappa-B-alpha/NF-kappa-B complex. Cell 95: 749-758, 1998.
[0014079]4666.Jung, M.; Zhang, Y.; Lee, S.; Dritschilo, A.: Correction of radiation sensitivity in ataxia telangiectasia cells by a truncated I-kappa-B-alpha. Science 268: 1619-1621, 1995.
[0014080]4667.Le Beau, M. M.; Ito, C.; Cogswell, P.; Espinosa, R., III; Fernald, A. A.; Baldwin, A. S., Jr.: Chromosomal localization of the genes encoding the p50/p105 subunits of NF-kappa-B (NFKB2) and the I-kappa-B/MAD-3 (NFKBI) inhibitor of NF-kappa-B to 4q24 and 14q13, respectively. Genomics 14: 529-531, 1992.
[0014081]4668.Neish, A. S..; Gewirtz, A. T.; Zeng, H.; Young, A. N.; Hobert, M. E.; Karmali, V.; Rao, A. S.; Madara, J. L.: Prokaryotic regulation of epithelial responses by inhibition of I-kappa-B-alpha ubiquitination. Science 289: 1560-1563, 2000.
[0014082]4669.Rupec, R. A.; Poujol, D.; Grosgeorge, J.; Carle, G. F.; Livolsi, A.; Peyron, J.-F.; Schmid, R. M.; Baeuerle, P. A.; Messer, G.: Structural analysis, expression, and chromosomal localization of the mouse ikba gene. Immunogenetics 49: 395-403, 1999.
[0014083]4670.Scheinman, R. I.; Cogswell, P. C.; Lofquist, A. K.; Baldwin, A. S., Jr.: Role of transcriptional activation of I-kappa-B-alpha in mediation of immunosuppression by glucocorticoids. Science 270: 283-286, 1995.
[0014084]4671.Compton, D. A.; Szilak, I.; Cleveland, D. W.: Primary structure of NuMA, an intranuclear protein that defines a novel pathway for segregation of proteins at mitosis. J. Cell Biol. 116: 1395-1408, 1992.
[0014085]4672.Lydersen, B. K.; Pettijohn, D. E.: Human-specific nuclear protein that associates with the polar region of the mitotic apparatus: distribution in a human/hamster hybrid cell. Cell 22: 489-499, 1980.
[0014086]4673.Merdes, A.; Ramyar, K.; Vechio, J. D.; Cleveland, D. W.: A complex of NuMA and cytoplasmic dynein is essential for mitotic spindle assembly. Cell 87: 447-458, 1996.
[0014087]4674.Sparks, C. A.; Bangs, P. L.; McNeil, G. P.; Lawrence, J. B.; Fey, E. G.: Assignment of the nuclear mitotic apparatus protein NuMA gene to human chromosome 11q13. Genomics 17: 222-224, 1993.
[0014088]4675.Wells, R. A.; Catzavelos, C.; Kamel-Reid, S.: Fusion of retinoic acid receptor alpha to NuMA, the nuclear mitotic apparatus protein, by a variant translocation in acute promyelocytic leukaemia. Nature Genet. 17: 109-113, 1997.
[0014089]4676.Wiese, C.; Wilde, A.; Moore, M. S.; Adam, S. A.; Merdes, A.; Zheng, Y.: Role of importin-beta in coupling Ran to downstream targets in microtubule assembly. Science 291: 653-656, 2001.
[0014090]4677.Yang, C. H.; Lambie, E. J.; Snyder, M.: NuMA: an unusually long coiled-coil related protein in the mammalian nucleus. J. Cell Biol. 116: 1303-1317, 1992.
[0014091]4678.Halila, R.; Apostolou, S.; Winqvist, R.; Callen, D.; Prockop, D. J.; Peltonen, L.: Isolation and genomic assignment of a candidate cDNA clone for type III procollagen N-proteinase. (Abstract) Am. J. Hum. Genet. 51 (suppl.): A128 only, 1992.
[0014092]4679.Halila, R.; Peltonen, L.; Prockop, D. J.: Isolation of a candidate cDNA clone for type III procollagen N-proteinase from human placental cDNA library. (Abstract) Am. J. Hum. Genet. 45 (suppl.): A192 only, 1989.
[0014093]4680.Nomura, N.; Nagase, T.; Miyajima, N.; Sazuka, T.; Tanaka, A.; Sato, S.; Seki, N.; Kawarabayasi, Y.; Ishikawa, K.; Tabata, S.: Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1. DNA Res. 1: 223-229, 1994.
[0014094]4681.Freedman, D. A.; Epstein, C. B.; Roth, J. C.; Levine, A. J.: A genetic approach to mapping the p53 binding site in the MDM2 protein. Molec. Med. 3: 248-259, 1997.
[0014095]4682.Fuchs, S. Y.; Adler, V.; Buschmann, T.; Yin, Z.; Wu, X.; Jones, S. N.; Ronai, Z.: JNK targets p53 ubiquitination and degradation in nonstressed cells. Genes Dev. 12: 2658-2663, 1998.
[0014096]4683.Mayo, L. D.; Donner, D. B.: A phosphatidylinositol 3-kinase/Akt pathway promotes translocation of Mdm2 from the cytoplasm to the nucleus. Proc. Nat. Acad. Sci. 98: 11598-11603, 2001.
[0014097]4684.Mitchell, E. L. D.; White, G. R. M.; Santibanez-Koref, M. F.; Varley, J. M.; Heighway, J.: Mapping of gene loci in the q13-q15 region of chromosome 12. Chromosome Res. 3: 261-262, 1995.
[0014098]4685.Momand, J.; Zambetti, G. P.; Olson, D. C.; George, D. L.; Levine, A. J.: The mdm-2 oncogene product forms a complex with the p53 protein and inhibits p53-mediated transactivation. Cell 69: 1237-1245, 1992.
[0014099]4686.Oliner, J. D.; Kinzler, K. W.; Meltzer, P. S.; George, D. L.; Vogelstein, B.: Amplification of a gene encoding a p53-associated protein in human sarcomas. Nature 358: 80-83, 1992.
[0014100]4687.Ries, S.; Biederer, C.; Woods, D.; Shifman, O.; Shirasawa, S.; Sasazuki, T.; McMahon, M.; Oren, M.; McCormick, F.: Opposing effects of Ras on p53: transcriptional activation of mdm2 and induction of p19(ARF). Cell 103: 321-330, 2000.
[0014101]4688.Shenoy, S. K.; McDonald, P. H.; Kohout, T. A.; Lefkowitz, R. J. : Regulation of receptor fate by ubiquitination of activated beta-2-adrenergic receptor and beta-arrestin. Science 294: 1307-1313, 2001.
[0014102]4689.Shieh, S.-Y.; Ikeda, M.; Taya, Y.; Prives, C.: DNA damage-induced phosphorylation of p53 alleviates inhibition by MDM2. Cell 91: 325-334, 1997.
[0014103]4690.Testa, J. R.; Bellacosa, A.: AKT plays a central role in tumorigenesis. Proc. Nat. Acad. Sci. 98: 10983-10985, 2001.
[0014104]4691.Xiao, Z.-X.; Chen, J.; Levine, A. J.; Modjtahedi, N.; Xing, J.; Sellers, W. R.; Livingston, D. M.: Interaction between the retinoblastoma protein and the oncoprotein MDM2. Nature 375: 694-698, 1995.
[0014105]4692.Zhang, Y.; Xiong, Y.: A p53 amino-terminal nuclear export signal inhibited by DNA damage-induced phosphorylation. Science 292: 1910-1915, 2001.
[0014106]4693.Ashkar, S.; Weber, G. F.; Panoutsakopoulou, V.; Sanchirico, M. E.; Jansson, M.; Zawaideh, S.; Rittling, S. R.; Denhardt, D. T.; Glimchar, M. J.; Cantor, H.: Eta-1 (osteopontin): an early component of type-1 (cell-mediated) immunity. Science 287: 860-864, 2000.
[0014107]4694.Baccarini-Contri, M.; Taparelli, F.; Pasquali-Ronchetti, I.: Osteopontin is a constitutive component of normal elastic fibers in human skin and aorta. Matrix Biol. 14: 553-560, 1994.
[0014108]4695.Beck, G. R., Jr.; Zerler, B.; Moran, E.: Phosphate is a specific signal for induction of osteopontin gene expression. Proc. Nat. Acad. Sci. 97: 8352-8357, 2000.
[0014109]4696.Crosby, A. H.; Lyu, M. S.; Lin, K.; McBride, O. W.; Kerr, J. M.; Aplin, H. M.; Fisher, L. W.; Young, M. F.; Kozak, C. A.; Dixon, M. J.: Mapping of the human and mouse bone sialoprotein and osteopontin loci. Mammalian Genome 7: 149-151, 1996.
[0014110]4697.Fisher, L. W.; McBride, O. W.; Termine, J. D.; Young, M. F.: Human bone sialoprotein: deduced protein sequence and chromosomal localization. J. Biol. Chem. 265: 2347-2351, 1990.
[0014111]4698.Graf, K.; Do, Y. S.; Ashizawa, N.; Meehan, W. P.; Giachelli, C. M.; Marboe, C. C.; Fleck, E.; Hsueh, W. A.: Myocardial osteopontin expression is associated with left ventricular hypertrophy. Circulation 96: 3063-3071, 1997.
[0014112]4699.Kiefer, M. C.; Bauer, D. M.; Barr, P. J.: The cDNA and derived amino acid sequence for human osteopontin. Nucleic Acids Res. 17: 3306, 1989.
[0014113]4700.Kim, J.-H.; Skates, S. J.; Uede, T.; Wong, K.; Schorge, J. O.; Feltmate, C. M.; Berkowitz, R. S.; Cramer, D. W.; Mok, S. C.: Osteopontin as a potential diagnostic biomarker for ovarian cancer. J.A.M.A. 287: 1671-1679, 2002.
[0014114]4701.Kohri, K.; Nomura, S.; Kitamura, Y.; Nagata, T.; Yoshioka, K.; Iguchi, M.; Yamate, T.; Umekawa, T.; Suzuki, Y.; Sinohara, H.; Kurita, T.: Structure and expression of the mRNA encoding urinary stone protein (osteopontin). J. Biol. Chem. 268: 15180-15184, 1993.
[0014115]4702.Kohri, K.; Suzuki, Y.; Yoshida, K.; Yamamoto, K.; Amasaki, N.; Yamate, T.; Umekawa, T.; Iguchi, M.; Sinohara, H.; Kurita, T.: Molecular cloning and sequencing of cDNA encoding urinary stone protein, which is identical to osteopontin. Biochem. Biophys. Res. Commun. 184: 859-864, 1992.
[0014116]4703.Liaw, L.; Birk, D. E.; Ballas, C. B.; Whitsitt, J. S.; Davidson, J. M.; Hogan, B. L. M.: Altered wound healing in mice lacking a functional osteopontin gene (spp1). J. Clin. Invest. 101: 1468-1478, 1998.
[0014117]4704.Morimoto, I.; Sasaki, Y.; Ishida, S.; Imai, K.; Tokino, T.: Identification of the osteopontin gene as a direct target of TP53. Genes Chromosomes Cancer 33: 270-278, 2002.
[0014118]4705.Reinholt, F. P.; Hultenby, K.; Oldberg, A.; Heinegard, D.: Osteopontin--a possible anchor of osteoclasts to bone. Proc. Nat. Acad. Sci. 87: 4473-4475, 1990.
[0014119]4706.Singh, K.; Balligand, J.-L.; Fischer, T. A.; Smith, T. W.; Kelly, R. A.: Glucocorticoids increase osteopontin expression in cardiac myocytes and microvascular endothelial cells: role in regulation of inducible nitric oxide synthase. J. Biol. Chem. 270: 28471-28478, 1995.
[0014120]4707.Weber, G. F.; Ashkar, S.; Glimcher, M. J.; Cantor, H.: Receptor-ligand interaction between CD44 and osteopontin (Eta-1). Science 271: 509-512, 1996.
[0014121]4708.Staal, A.; van Wijnen, A. J.; Birkenhager, J. C.; Pols, H. A. P.; Prahl, J.; DeLuca, H.; Gaub, M.-P.; Lian, J. B.; Stein, G. S.; van Leeuwen, J. P. T. M.; Stein, J. L.: Distinct conformations of vitamin D receptor/retinoid X receptor-alpha heterodimers are specified by dinucleotide differences in the vitamin D-responsive elements of the osteocalcin and osteopontin genes. Molec. Endocr. 10: 1444-1456, 1996.
[0014122]4709.Young, M. F.; Kerr, J. M.; Termine, J. D.; Wewer, U. M.; Wang, M. G.; McBride, O. W.; Fisher, L. W.: cDNA cloning, mRNA distribution and heterogeneity, chromosomal location and RFLP analysis of human osteopontin. Genomics 7: 491-502, 1990.
[0014123]4710.Vogelstein, B.; Fearon, E. R.; Hamilton, S. R.; Kern, S. E.; Preisinger, A. C.; Leppert, M.; Nakamura, Y.; White, R.; Smits, A. M. M.; Bos, J. L.: Genetic alterations during colorectal-tumor development. New Eng. J. Med. 319: 525-532, 1988.
[0014124]4711.Zhou, X.-P.; Kuismanen, S.; Nystrom-Lahti, M.; Peltomaki, P.; Eng, C.: Distinct PTEN mutational spectra in hereditary non-polyposis colon cancer syndrome-related endometrial carcinomas compared to sporadic microsatellite unstable tumors. Hum. Molec. Genet. 11: 445-450, 2002.
[0014125]4712.Zhao, C.; Takita, J.; Tanaka, Y.; Setou, M.; Nakagawa, T.; Takeda, S.; Yang, H. W.; Terada, S.; Nakata, T.; Takei, Y.; Saito, M.; Tsuji, S.; Hayashi, Y.; Hirokawa, N.: Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1B-beta. Cell 105: 587-597, 2001.
[0014126]4713.Maggi, M.; Barni, T.; Fantoni, G.; Mancina, R.; Pupilli, C.; Luconi, M.; Crescioli, C.; Serio, M.; Vannelli, G. B.: Expression and biological effects of endothelin-1 in human gonadotropinreleasing hormone-secreting neurons. J. Clin. Endocr. Metab. 85: 1658-1665, 2000.
[0014127]4714.Napolitano, M.; Miceli, F.; Calce, A.; Vacca, A.; Gulino, A.; Apa, R.; Lanzone, A.: Expression and relationship between endothelin-1 messenger ribonucleic acid (mRNA) and inducible/endothelial nitric oxide synthase mRNA isoforms from normal and preeclamptic placentas. J. Clin. Endocr. Metab. 85: 2318-2323, 2000.
[0014128]4715.Okafor, M. C.; Delamere, N. A.: The inhibitory influence of endothelin on active sodium-potassium transport in porcine lens. Invest. Ophthal. Vis. Sci. 42: 1018-1023, 2001.
[0014129]4716.Zeidel, M. L.; Brady, H. R.; Kone, B. C.; Gullans, S. R.; Brenner, B. M.: Endothelin, a peptide inhibitor of Na(+)-K(+)-ATPase in intact renal tubular epithelial cells. Am. J. Physiol. 257: C1101-C1107, 1989.
[0014130]4717.Baynash, A. G.; Hosoda, K.; Giaid, A.; Richardson, J. A.; Emoto, N.; Hammer, R. E.; Yanagisawa, M.: Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons. Cell 79: 1277-1285, 1994.
[0014131]4718.Bidaud, C.; Salomon, R.; Van Camp, G.; Pelet, A.; Attie, T.; Eng, C.; Bonduelle, M.; Amiel, J.; Nihoul-Fekete, C.; Willems, P. J.; Munnich, A.; Lyonnet, S.: Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease. Europ. J. Hum. Genet. 5: 247-251, 1997.
[0014132]4719.Bloch, K.; Eddy, R. L.; Shows, T. B.; Quertermous, T.: cDNA cloning and chromosomal assignment of the gene encoding endothelin 3. J. Biol. Chem. 264: 18156-18161, 1989.
[0014133]4720.Bolk, S.; Angrist, M.; Xie, J.; Yanagisawa, M.; Silvestri, J. M.; Weese-Mayer, D. E.; Chakravarti, A.: Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome. (Letter) Nature Genet. 13: 395-396, 1996.
[0014134]4721.Dupin, E.; Glavieux, C.; Vaigot, P.; Le Douarin, N. M.: Endothelin 3 induces the reversion of melanocytes to glia through a neural crest-derived glial-melanocytic progenitor. Proc. Nat. Acad. Sci. 97: 7882-7887, 2000.
[0014135]4722.Edery, P.; Attie, T.; Amiel, J.; Pelet, A.; Eng, C.; Hofstra, R. M. W.; Martelli, H.; Bidaud, C.; Munnich, A.; Lyonnet, S.: Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nature Genet. 12: 442-444, 1996.
[0014136]4723.Gopal Rao, V. V. N.; Loffler, C.; Hansmann, I.: The gene for the novel vasoactive peptide endothelin 3 (EDN3) is localized to human chromosome 20q13.2-qter. Genomics 10: 840-841, 1991.
[0014137]4724.Marger, R. S.; Marger, D.: Carcinoma of the esophagus and tylosis: a lethal genetic combination. Cancer 72: 17-19, 1993.
[0014138]4725.Risk, J. M.; Field, E. A.; Field, J. K.; Whittaker, J.; Fryer, A.; Ellis, A.; Shaw, J. M.; Friedmann, P. S.; Bishop, D. T.; Bodmer, J.; Leigh, I. M.: Tylosis oesophageal cancer mapped. (Letter) Nature Genet. 8: 319-321, 1994.
[0014139]4726.Shine, I.; Allison, P. R.: Carcinoma of the esophagus with tylosis. Lancet I: 951-953, 1966.
[0014140]4727.Stevens, H. P.; Kelsell, D. P.; Bryant, S. P.; Bishop, D. T.; Spurr, N. K.; Weissenbach, J.; Marger, D.; Marger, R. S.; Leigh, I. M.: Linkage of an American pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24: literature survey and proposed updated classification of the keratodermas. Arch. Derm. 132: 640-651, 1996.
[0014141]4728.Tyldesley, W. R.: Oral leukoplakia associated with tylosis and esophageal carcinoma. J. Oral Path. 3: 62-70, 1974.
[0014142]4729.von Brevern, M.; Hollstein, M. C.; Risk, J. M.; Garde, J.; Bennett, W. P.; Harris, C. C.; Muehlbauer, K.-R.; Field, J. K.: Loss of heterozygosity in sporadic oesophageal tumors in the tylosis oesophageal cancer (TOC) gene region of chromosome 17q. Oncogene 17: 2101-2105, 1998.
[0014143]4730.Yesudian, P.; Premalatha, S.; Thambiah, A. S.: Genetic tylosis with malignancy: a study of a South Indian pedigree. Brit. J. Derm. 102: 597-600, 1980.
[0014144]4731.Lerman, C.; Caporaso, N. E.; Audrain, J.; Main, D.; Bowman, E. D.; Lockshin, B.; Boyd, N. R.; Shields, P. G.: Evidence suggesting the role of specific genetic factors in cigarette smoking. Health Psych. 18: 14-20, 1999.
[0014145]4732.Lossie, A. C.; Vandenbergh, D. J.; Uhl, G. R.; Camper, S. A.: Localization of the dopamine transporter gene, Dat1, on mouse chromosome 4733. Mammalian Genome 5: 117-118, 1994. 13. Sabol, S. Z.; Nelson, M. L.; Fisher, C.; Gunzerath, L.; Brody, C. L.; Hu, S.; Sirota, L. A.; Marcus, S. E.; Greenberg, B. D.; Lucas, F. R., IV; Benjamin, J.; Murphy, D. L.; Hamer, D. H.: A genetic association for cigarette smoking behavior. Health Psych. 18: 7-13, 1999.
[0014146]4734.Tiihonen, J.; Kuikka, J.; Bergstrom, K.; Hakola, P.; Karhu, J.; Ryynanen, O.-P.; Fohr, J.: Altered striatal dopamine re-uptake site densities in habitually violent and non-violent alcoholics. Nature Med. 1: 654-657, 1995.
[0014147]4735.Vandenbergh, D. J.; Persico, A. M.; Hawkins, A. L.; Griffin, C. A.; Li, X.; Jabs, E. W.; Uhl, G. R.: Human dopamine transporter gene (DAT1) maps to chromosome 5p15.3 and displays a VNTR. Genomics 14: 1104-1106, 1992.
[0014148]4736.Vandenbergh, D. J.; Persico, A. M.; Uhl, G. R.: A human dopamine transporter cDNA predicts reduced glycosylation, displays a novel repetitive element and provides racially-dimorphic Taql RFLPs. Molec. Brain Res. 15: 161-166, 1992.
[0014149]4737.Waldman, I. D.; Rowe, D. C.; Abramowitz, A.; Kozel, S. T.; Mohr, J. H.; Sherman, S. L.; Cleveland, H. H.; Sanders, M. L.; Gard, J. M. C.; Stever, C.: Association and linkage of the dopamine transporter gene and attention-deficit hyperactivity disorder in children: heterogeneity owing to diagnostic subtype and severity. Am. J. Hum. Genet. 63: 1767-1776, 1998.
[0014150]4738.Haila, S.; Hoglund, P.; Scherer, S. W.; Lee, J. R.; Kristo, P.; Coyle, B.; Trembath, R.; Holmberg, C.; de la Chapelle, A.; Kere, J. : Genomic structure of the human congenital chloride diarrhea (CLD) gene. Gene 214: 87-93, 1998.
[0014151]4739.Hoglund, P.; Haila, S.; Gustavson, K.-H.; Taipale, M.; Hannula, K.; Popinska, K.; Holmberg, C.; Socha, J.; de la Chapelle, A.; Kere, J.: Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene. Hum. Mutat. 11: 321-327, 1998.
[0014152]4740.Huang, H.; Mahler-Araujo, B. M.; Sankila, A.; Chimelli, L.; Yonekawa, Y.; Kleihues, P.; Ohgaki, H.: APC mutations in sporadic medulloblastomas. Am. J. Path. 156: 433-437, 2000.
[0014153]4741.von Boehmer, H.; Sarukhan, A.: GAD, a single autoantigen for diabetes. Science 284: 1135-1136, 1999.
[0014154]4742.Williamson, E. A.; Ince, P. G.; Harrison, D.; Kendall-Taylor, P.; Harris, P. E.: G-protein mutations in human pituitary adrenocorticotrophic hormone-secreting adenomas. Europ. J. Clin. Invest. 25: 128-131, 1995.
[0014155]4743.Farlie, P. G.; Dringen, R.; Rees, S. M.; Kannourakis, G.; Bernard, O.: bcl-2 transgene expression can protect neurons against developmental and induced cell death. Proc. Nat. Acad. Sci. 92: 4397-4401, 1995.
[0014156]4744.Fesus, L.; Davies, P. J. A.; Piacentini, M.: Apoptosis: molecular mechanisms in programmed cell death. Europ. J. Cell Biol. 56: 170-177, 1991.
[0014157]4745.Frankel, S. R.: Correction: location of bcl-2 oncogene. (Letter) New Eng. J. Med. 328: 141, 1993.
[0014158]4746.Graninger, W. B.; Seto, M.; Boutain, B.; Goldman, P.; Korsmeyer, S. J.: Expression of Bcl-2 and Bcl-2-Ig fusion transcripts in normal and neoplastic cells. J. Clin. Invest. 80: 1512-1515, 1987.
[0014159]4747.Haluska, F. G.; Tsujimoto, Y.; Croce, C. M.: Mechanisms of chromosome translocation in B- and T-cell neoplasia. Trends Genet. 3: 11-15, 1987.
[0014160]4748.Hengartner, M. O.; Horvitz, H. R.: C. elegans cell survival gene ced-9 encodes a functional homolog of the mammalian proto-oncogene bcl-2. Cell 76: 665-676, 1994.
[0014161]4749.Hockenbery, D.; Nunez, G.; Milliman, C.; Schreiber, R. D.; Korsmeyer, S. J.: Bcl-2 is an inner mitochondrial membrane protein that blocks programmed cell death. Nature 348: 334-336, 1990.
[0014162]4750.Jacobson, M. D.; Burne, J. F.; King, M. P.; Miyashita, T.; Reed, J. C.; Raff, M. C.: Bcl-2 blocks apoptosis in cells lacking mitochondrial DNA. Nature 361: 365-369, 1993.
[0014163]4751.Ji, L.; Mochon, E.; Arcinas, M.; Boxer, L. M.: CREB proteins function as positive regulators of the translocated bcl-2 allele in t(14;18) lymphomas. J. Biol. Chem. 271: 22687-22691, 1996.
[0014164]4752.Korsmeyer, S. J.: Bcl-2 initiates a new category of oncogenes: regulators of cell death. Blood 80: 879-886, 1992.
[0014165]4753.Lee, M.-S.; Chang, K.-S.; Cabanillas, F.; Freireich, E. J.; Trujillo, J. M.; Stass, S. A.: Detection of minimal residual cells carrying the t(14;18) by DNA sequence amplification. Science 237: 175-178, 1987.
[0014166]4754.Limana, F.; Urbanek, K.; Chimenti, S.; Quaini, F.; Leri, A.; Kajstura, J.; Nadal-Ginard, B.; Izumo, S.; Anversa, P.: bcl-2 overexpression promotes myocyte proliferation. Proc. Nat. Acad. Sci. 99: 6257-6262, 2002.
[0014167]4755.Liu, Y.; Hernandez, A. M.; Shibata, D.; Cortopassi, G. A.: BCL2 translocation frequency rises with age in humans. Proc. Nat. Acad. Sci. 91: 8910-8914, 1994.
[0014168]4756.Marsden, V. S.; O'Connor, L.; O'Reilly, L. A.; Silke, J.; Metcalf, D.; Ekert, P. G.; Huang, D. C. S.; Cecconi, F.; Kuida, K.; Tomaselli, K. J.; Roy, S.; Nicholson, D. W.; Vaux, D. L.; Bouillet, P.; Adams, J. M.; Strasser, A.: Apoptosis initiated by Bcl-2-regulated caspase activation independently of the cytochrome c/Apaf-1/caspase-9 apoptosome. Nature 419: 634-637, 2002.
[0014169]4757.Martinou, J.-C.; Dubois-Dauphin, M.; Staple, J. K.; Rodriguez, I.; Frankowski, H.; Missotten, M.; Albertini, P.; Talabot, D.; Catsicas, S.; Pietra, C.; Huarte, J.: Overexpression of BCL-2 in transgenic mice protects neurons from naturally occurring cell death and experimental ischemia. Neuron 13: 1017-1030, 1994.
[0014170]4758.McDonnell, T. J.; Deane, N.; Platt, F. M.; Nunez, G.; Jaeger, U.; McKearn, J. P.; Korsmeyer, S. J.: Bcl-2-immunoglobulin transgenic mice demonstrate extended B cell survival and follicular lymphoproliferation. Cell 57: 79-88, 1989.
[0014171]4759.McGill, G. G.; Horstmann, M.; Widlund, H. R.; Du, J.; Motyckova, G.; Nishimura, E. K.; Lin, Y.-L.; Ramaswamy, S.; Avery, W.; Ding, H.-F.; Jordan, S. A.; Jackson, I. J.; Korsmeyer, S. J.; Golub, T. R.; Fisher, D. E.: Bcl2 regulation by the melanocyte master regulator Mitf modulates lineage survival and melanoma cell viability. Cell 109: 707-718, 2002.
[0014172]4760.Migheli, A.; Cavalla, P.; Piva, R.; Giordana, M. T.; Schiffer, D.: Bcl-2 protein expression in aged brain and neurodegenerative diseases. Neuroreport 5: 1906-1908, 1994.
[0014173]4761.Huelsken, J.; Vogel, R.; Erdmann, B.; Cotsarelis, G.; Birchmeier, W.: Beta-catenin controls hair follicle morphogenesis and stem cell differentiation in the skin. Cell 105: 533-545, 2001.
[0014174]4762.Ilyas, M.; Tomlinson, I. P. M.; Rowan, A.; Pignatelli, M.; Bodmer, W. F.: Beta-catenin mutations in cell lines established from human colorectal cancers. Proc. Nat. Acad. Sci. 94: 10330-10334, 1997.
[0014175]4763.Iwao, K.; Nakamori, S.; Kameyama, M.; Imaoka, S.; Kinoshita, M.; Fukui, T.; Ishiguro, S.; Nakamura, Y.; Miyoshi, Y.: Activation of the beta-catenin gene by interstitial deletions involving exon 3 in primary colorectal carcinomas without adenomatous polyposis coli mutations. Cancer Res. 58: 1021-1026, 1998.
[0014176]4764.Kawasaki, Y.; Senda, T.; Ishidata, T.; Koyama, R.; Morishita, T.; Iwayama, Y.; Higuchi, O.; Akiyama, T.: Asef, a link between the tumor suppressor APC and G-protein signaling. Science 289: 1194-1197, 2000.
[0014177]4765.Koch, A.; Denkhaus, D.; Albrecht, S.; Leuschner, I.; von Schweinitz, D.; Pietsch, T.: Childhood hepatoblastomas frequently carry a mutated degradation targeting box of the beta-catenin gene. Cancer Res. 59: 269-273, 1999.
[0014178]4766.Korinek, V.; Barker, N.; Morin, P. J.; van Wichen, D.; de Weger, R.; Kinzler, K. W.; Vogelstein, B.; Clevers, H.: Constitutive transcriptional activation by a beta-catenin-Tcf complex in APC-/- colon carcinoma. Science 275: 1784-1787, 1997.
[0014179]4767.Kraus, C.; Liehr, T.; Hulsken, J.; Behrens, J.; Birchmeier, W.; Grzeschik, K.-H.; Ballhausen, W. G.: Localization of the human beta-catenin gene (CTNNB1) to 3p21: a region implicated in tumor development. Genomics 23: 272-274, 1994.
[0014180]4768.Legoix, P.; Bluteau, O.; Bayer, J.; Perret, C.; Balabaud, C.; Belghiti, J.; Franco, D.; Thomas, G.; Laurent-Puig, P.; Zucman-Rossi, J.: Beta-catenin mutations in hepatocellular carcinoma correlate with a low rate of loss of heterozygosity. Oncogene 18: 4044-4046, 1999.
[0014181]4769.Lin, S.-Y.; Xia, W.; Wang, J. C.; Kwong, K. Y.; Spohn, B.; Wen, Y.; Pestell, R. G.; Hung, M.-C.: Beta-catenin, a novel prognostic marker for breast cancer: its roles in cyclin D1 expression and cancer progression. Proc. Nat. Acad. Sci. 97: 4262-4266, 2000.
[0014182]4770.McCrea, P. D.; Turck, C. W.; Gumbiner, B.: A homolog of the armadillo protein in Drosophila (plakoglobin) associated with E-cadherin. Science 254: 1359-1361, 1991.
[0014183]4771.Morin, P. J.; Sparks, A. B.; Korinek, V.; Barker, N.; Clevers, H.; Vogelstein, B.; Kinzler, K. W.: Activation of beta-catenin-Tcf signaling in colon cancer by mutations in beta-catenin or APC. Science 275: 1787-1790, 1997.
[0014184]4772.Murase, S.; Mosser, E.; Schuman, E. M.: Depolarization drives beta-catenin into neuronal spines promoting changes in synaptic structure and function. Neuron 35: 91-105, 2002.
[0014185]4773.Nollet, F.; Berx, G.; Molemans, F.; van Roy, F.: Genomic organization of the human beta-catenin gene (CTNNB1). Genomics 32: 413-424, 1996.
[0014186]4774.Peifer, M.: Cancer, catenins, and cuticle pattern: a complex connection. Science 262: 1667-1668, 1993.
[0014187]4775.Rodova, M.; Islam, M. R.; Maser, R. L.; Calvet, J. P.: The polycystic kidney disease-1 promoter is a target of the beta-catenin/T-cell factor pathway. J. Biol. Chem. 277: 29577-29583, 2002.
[0014188]4776.Roose, J.; Huls, G.; van Beest, M.; Moerer, P.; van der Horn, K.; Goldschmeding, R.; Logtenberg, T.; Clevers, H.: Synergy between tumor suppressor APC and the beta-catenin-Tcf4 target Tcf1. Science 285: 1923-1926, 1999.
[0014189]4777.Rubinfeld, B.; Robbins, P.; El-Gamil, M.; Albert, I.; Porfiri, E.; Polakis, P.: Stabilization of beta-catenin by genetic defects in melanoma cell lines. Science 275: 1790-1792, 1997.
[0014190]4778.Saadi-Kheddouci, S.; Berrebi, D.; Romagnolo, B.; Cluzeaud, F.; Peuchmaur, M.; Kahn, A.; Vandewalle, A.; Perret, C.: Early development of polycystic kidney disease in transgenic mice expressing an activated mutant of the beta-catenin gene. Oncogene 20: 5972-5981, 2001.
[0014191]4779.Sagae, S.; Kobayashi, K.; Nishioka, Y.; Sugimura, M.; Ishioka, S.; Nagata, M.; Terasawa, K.; Tokino, T.; Kudo, R.: Mutational analysis of beta-catenin gene in Japanese ovarian carcinomas: frequent mutations in endometrioid carcinomas. Jpn. J. Cancer Res. 90: 510-515, 1999.
[0014192]4780.Trent, J. M.; Wiltshire, R.; Su, L.-K.; Nicolaides, N. C.; Vogelstein, B.; Kinzler, K. W.: The gene for the APC-binding protein beta-catenin (CTNNB1) maps to chromosome 3p22, a region frequently altered in human malignancies. Cytogenet. Cell Genet. 71: 343-344, 1995.
[0014193]4781.van Hengel, J.; Nollet, F.; Berx, G.; van Roy, N.; Speleman, F.; van Roy, F.: Assignment of the human beta-catenin gene (CTNNB1) to 3p22-p21.3 by fluorescence in situ hybridization. Cytogenet. Cell Genet. 70: 68-70, 1995.
[0014194]4782.Chan, S. J.; San Segundo, B.; McCormick, M. B.; Steiner, D. F. : Nucleotide and predicted amino acid sequences of cloned human and mouse preprocathepsin B cDNAs. Proc. Nat. Acad. Sci. 83: 7721-7725, 1986.
[0014195]4783.Deussing, J.; Roth, W.; Rommerskirch, W.; Wiederanders, B.; von Figura, K.; Peters, C.: The genes of the lysosomal cysteine proteinases cathepsin B, H, L, and S map to different mouse chromosomes. Mammalian Genome 8: 241-245, 1997.
[0014196]4784.Shigemitsu, K.; Sekido, Y.; Usami, N.; Mori, S.; Sato, M.; Horio, Y.; Hasegawa, Y.; Bader, S. A.; Gazdar, A. F.; Minna, J. D.; Hida, T.; Yoshioka, H.; Imaizumi, M.; Ueda, Y.; Takahashi, M.; Shimokata, K.: Genetic alteration of the beta-catenin gene (CTNNB1) in human lung cancer and malignant mesothelioma and identification of a new 3p21.3 homozygous deletion. Oncogene 20: 4249-4257, 2001.
[0014197]4785.Takahashi, M.; Arita, Y.; Yamagata, K.; Matsukawa, Y.; Okutomi, K.; Horie, M.; Shimomura, I.; Hotta, K.; Kuriyama, H.; Kihara, S.; Nakamura, T.; Yamashita, S.; Funahashi, T,; Matsuzawa, Y.: Genomic structure and mutations in adipose-specific gene, adiponectin. Int. J. Obes. 24: 861-868, 2000.
[0014198]4786.Yang, W.-S.; Lee, W.-J.; Funahashi, T.; Tanaka, S.; Matsuzawa, Y.; Chao, C.-L.; Chen, C.-L.; Tai, T.-Y.; Chuang, L.-M.: Weight reduction increases plasma levels of an adipose-derived antiinflammatory protein, adiponectin. J. Clin. Endocr. Metab. 86: 3815-3819, 2001.
[0014199]4787.Camenisch, T. D.; Koller, B. H.; Earp, H. S.; Matsushima, G. K. : A novel receptor tyrosine kinase, mer, inhibits TNF-alpha production and lipopolysaccharide-induced endotoxic shock. J. Immun. 162: 3498-3503, 1999.
[0014200]4788.D'Cruz, P. M.; Yasumura, D.; Weir, J.; Matthes, M. T.; Abderrahim, H.; LaVail, M. M.; Vollrath, D.: Mutation of the receptor tyrosine kinase gene Mertk in the retinal dystrophic RCS rat. Hum. Molec. Genet. 9: 645-651, 2000.
[0014201]4789.Gal, A.; Li, Y.; Thompson, D. A.; Weir, J.; Orth, U.; Jacobson, S. G.; Apfelstedt-Sylla, E.; Vollrath, D.: Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa. Nature Genet. 26: 270-271, 2000.
[0014202]4790.Graham, D. K.; Dawson, T. L.; Mullaney, D. L.; Snodgrass, H. R.; Earp, H. S.: Cloning and mRNA expression analysis of a novel human protooncogene, c-mer. Cell Growth Differ. 5: 647-657, 1994.
[0014203]4791.Lu, Q.; Gore, M.; Zhang, Q.; Camenisch, T.; Boast, S.; Casagranda, F.; Lai, C.; Skinner, M. K.; Klein, R.; Matsushima, G. K.; Earp, H. S.; Goff, S. P.; Lemke, G.: Tyro-3 family receptors are essential regulators of mammalian spermatogenesis. Nature 398: 723-728, 1999.
[0014204]4792.Scott, R. S.; McMahon, E. J.; Pop, S. M.; Reap, E. A.; Caricchio, R.; Cohen, P. L.; Earp, H. S.; Matsushima, G. K.: Phagocytosis and clearance of apoptotic cells is mediated by MER. Nature 411: 207-211, 2001.
[0014205]4793.Vollrath, D.; Feng, W.; Duncan, J. L.; Yasumura, D.; D'Cruz, P. M.; Chappelow, A.; Matthes, M. T.; Kay, M. A.; LaVail, M. M.: Correction of the retinal dystrophy phenotype of the RCS rat by viral gene transfer of Mertk. Proc. Nat. Acad. Sci. 98: 12584-12589, 2001.
[0014206]4794.Weier, H.-U. G.; Fung, J.; Lersch, R. A.: Assignment of protooncogene MERTK (a.k.a. c-mer) to human chromosome 2q14.1 by in situ hybridization. Cytogenet. Cell Genet. 84: 91-92, 1999.
[0014207]4795.Adler, H. J.; Winnicki, R. S.; Gong, T.-W. L.; Lomax, M. I.: A gene upregulated in the acoustically damaged chick basilar papilla encodes a novel WD40 repeat protein. Genomics 56: 59-69, 1999.
[0014208]4796.Geck, P.; Sonnenschein, C.; Soto, A. M.: The D13S171 marker, misannotated to BRCA2, links the AS3 gene to various cancers. (Letter) Am. J. Hum. Genet. 69: 461-463, 2001.
[0014209]4797.Geck, P.; Szelei, J.; Jimenez, J.; Sonnenschein, C.; Soto, A. M. : Early gene expression during androgen-induced inhibition of proliferation of prostate cancer cells: a new suppressor candidate on chromosome 13, in the BRCA2-Rb1 locus. J. Steroid Biochem. Molec. Biol. 68: 41-50, 1999.
[0014210]4798.Bontekoe, C. J. M.; McIlwain, K. L.; Nieuwenhuizen, I. M.; Yuva-Paylor, L. A.; Nellis, A.; Willemsen, R.; Fang, Z.; Kirkpatrick, L.; Bakker, C. E.; McAninch, R.; Cheng, N. C.; Merriweather, M.; Hoogeveen, A. T.; Nelson, D.; Paylor, R.; Oostra, B. A.: Knockout mouse model for Fxr2: a model for mental retardation. Hum. Molec. Genet. 11: 487-498, 2002.
[0014211]4799.Tamanini, F.; Willemsen, R.; van Unen, L.; Bontekoe, C.; Galjaard, H.; Oostra, B. A.; Hoogeveen, A. T.: Differential expression of FMR1, FXR1 and FXR2 proteins in human brain and testis. Hum. Molec. Genet. 6: 1315-1322, 1997.
[0014212]4800.Zhang, Y.; O'Connor, J. P.; Siomi, M. C.; Srinivasan, S.; Dutra, A.; Nussbaum, R. L.; Dreyfuss, G.: The fragile X mental retardation syndrome protein interacts with novel homologs FXR1 and FXR2. EMBO J. 14: 5358-5366, 1995.
[0014213]4801.Samaridis, J.; Colonna, M.: Cloning of novel immunoglobulin superfamily receptors expressed on human myeloid and lymphoid cells: structural evidence for new stimulatory and inhibitory pathways. Europ. J. Immun. 27: 660-665, 1997.
[0014214]4802.Wagtmann, N.; Rojo, S.; Eichler, E.; Mohrenweiser, H.; Long, E. O.: A new human gene complex encoding the killer cell inhibitory receptors and related monocyte/macrophage receptors. Curr. Biol. 7: 615-618, 1997.
[0014215]4803.Chang, C. C.; Ciubotariu, R.; Manavalan, J. S.; Yuan, J.; Colovai, A. I.; Piazza, F.; Lederman, S.; Colonna, M.; Cortesini, R.; Dalla-Favera, R.; Suciu-Foca, N.: Tolerization of dendritic cells by Ts cells: the crucial role of inhibitory receptors ILT3 and ILT4. Nature Immun. 3: 237-243, 2002.
[0014216]4804.Lee, J. K.; Bhakta, S.; Rosen, S. D.; Hemmerich, S.: Cloning and characterization of a mammalian N-acetylglucosamine-6-sulfotransferase that is highly restricted to intestinal tissue. Biochem. Biophys. Res. Commun. 263: 543-549, 1999.
[0014217]4805.Arm, J. P.; Nwankwo, C.; Austen, K. F.: Molecular identification of a novel family of human Ig superfamily members that possess immunoreceptor tyrosine-based inhibition motifs and homology to the mouse gp49B1 inhibitory receptor. J. Immun. 159: 2342-2349, 1997.
[0014218]4806.Cella, M.; Dohring, C.; Samaridis, J.; Dessing, M.; Brockhaus, M.; Lanzavecchia, A.; Colonna, M.: A novel inhibitory receptor (ILT3) expressed on monocytes, macrophages, and dendritic cells involved in antigen processing. J. Exp. Med. 185: 1743-1751, 1997.
[0014219]4807.Raymond, C. S.; Parker, E. D.; Kettlewell, J. R.; Brown, L. G.; Page, D. C.; Kusz, K.; Jaruzelska, J.; Reinberg, Y.; Fletjer, W. L.; Bardwell, V. J.; Hirsch, B.; Zarkower, D.: A region of human chromosome 9p required for testis development contains two genes related to known sexual regulators. Hum. Molec. Genet. 8: 989-996, 1999.
[0014220]4808.Ancian, P.; Lambeau, G.; Mattei, M.-G.; Lazdunski, M.: The human 180-kDa receptor for secretory phospholipases A2: molecular cloning, identification of a secreted soluble form, expression, and chromosomal localization. J. Biol. Chem. 270: 8963-8970, 1995.
[0014221]4809.Okazaki, I.; Kinoshita, K.; Muramatsu, M.; Yoshikawa, K.; Honjo, T.: The AID enzyme induces class switch recombination in fibroblasts. Nature 416: 340-345, 2002.
[0014222]4810.Petersen-Mahrt, S. K.; Harris, R. S.; Neuberger, M. S.: AID mutates E. coli suggesting a DNA deamination mechanism for antibody diversification. Nature 418: 99-104, 2002.
[0014223]4811.Revy, P.; Muto, T.; Levy, Y.; Geissmann, F.; Plebani, A.; Sanal, O.; Catalan, N.; Forveille, M.; Dufourcq-Lagelouse, R.; Gennery, A.; Tezcan, I.; Ersoy, F.; and 9 others: Activationinduced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the hyper-IgM syndrome (HIGM2). Cell 102: 565-575, 2000.
[0014224]4812.Yoshikawa, K.; Okazaki, I.; Eto, T.; Kinoshita, K.; Muramatsu, M.; Nagaoka, H.; Honjo, T.: AID enzyme-induced hypermutation in an actively transcribed gene in fibroblasts. Science 296: 2033-2036, 2002.
[0014225]4813.Geiszt, M.; Kopp, J. B.; Varnai, P.; Leto, T. L.: Identification of Renox, an NAD(P)H oxidase in kidney. Proc. Nat. Acad. Sci. 97: 8010-8014, 2000.
[0014226]4814.Shiose, A.; Kuroda, J.; Tsuruya, K.; Hirai, M.; Hirakata, H.; Naito, S.; Hattori, M.; Sakaki Y.; Sumimoto, H.: A novel superoxide-producing NAD(P)H oxidase in kidney. J. Biol. Chem. 276: 1417-1423, 2001.
[0014227]4815.Kokame, K.; Kato, H.; Miyata, T.: Homocysteine-respondent genes in vascular endothelial cells identified by differential display analysis: GRP78/BiP and novel genes. J. Biol. Chem. 271: 29659-29665, 1996.
[0014228]4816.Park, H,; Adams, M. A.; Lachat, P.; Bosman, F.; Pang, S. C.; Graham, C. H.: Hypoxia induces the expression of a 43-kDa protein (PROXY-1) in normal and malignant cells. Biochem. Biophys. Res. Commun. 276: 321-328, 2000.
[0014229]4817.Shimono, A.; Okuda, T.; Kondoh, H.: N-myc-dependent repression of Ndr1, a gene identified by direct subtraction of whole mouse embryo cDNAs between wild type and N-myc mutant. Mech. Dev. 83: 39-52, 1999.
[0014230]4818.van Belzen, N.; Dinjens, W. N. M.; Diesveld, M. P. G.; Groen, N. A.; van der Made, A. C. J.; Nozawa, Y.; Vliestra, R.; Trapman, J.; Bosman, F. T.: A novel gene which is up-regulated during colon epithelial cell differentiation and down-regulated in colorectal neoplasms. Lab. Invest. 77: 85-92, 1997.
[0014231]4819.Zhou, D.; Salnikow, K.; Costa, M.: Cap43, a novel gene specifically induced by Ni2+ compounds. Cancer Res. 58: 2182-2189, 1998.
[0014232]4820.Ludwig, J.; Kerscher, S.; Brandt, U.; Pfeiffer, K.; Getlawi, F.; Apps, D. K.; Schagger, H.: Identification and characterization of a novel 9.2-kDa membrane sector-associated protein of vacuolar proton-ATPase from chromaffin granules. J. Biol. Chem. 273: 10939-10947, 1998.
[0014233]4821.Nanji, M.; Coronado, V. A.; Cox, D. W.: ATP6H, a subunit of vacuolar ATPase involved in metal transport: evaluation in canine copper toxicosis. Mammalian Genome 12: 617-621, 2001.
[0014234]4822.Arama, E.; Yanai, A.; Kilfin, G.; Bernstein, A.; Motro, B.: Murine NIMA-related kinases are expressed in patterns suggesting distinct functions in gametogenesis and a role in the nervous system. Oncogene 16: 1813-1823, 1998.
[0014235]4823.Fry, A. M.; Meraldi, P.; Nigg, E. A.: A centrosomal function for the human Nek2 protein kinase, a member of the NIMA family of cell cycle regulators. EMBO J. 17: 470-481, 1998.
[0014236]4824.Schultz, S. J.; Fry, A. M.; Sutterlin, C.; Ried, T.; Nigg, E. A. : Cell cycle-dependent expression of Nek2, a novel human protein kinase related to the NIMA mitotic regulator of Aspergillus nidulans. Cell Growth Diff. 5: 625-635, 1994.
[0014237]4825.Schultz, S. J.; Nigg, E. A.: Identification of 21 novel human protein kinases, including 3 members of a family related to the cell cycle regulator nimA of Aspergillus nidulans. Cell Growth Diff. 4: 821-830, 1993.
[0014238]4826.Tamari, M.; Daigo, Y.; Nakamura, Y.: Isolation and characterization of a novel serine threonine kinase gene on chromosome 3q22-21.3. J. Hum. Genet. 44: 116-120, 1999.
[0014239]4827.Tamari, M.; Daigo, Y.; Ishikawa, S.; Nakamura, Y.: Genomic structure of a novel human gene (XYLB) on chromosome 3p22-p21.3 encoding a xylulokinase-like protein. Cytogenet. Cell Genet. 82: 101-104, 1998.
[0014240]4828.Daigo, Y.; Nishiwaki, T.; Kawasoe, T.; Tamari, M.; Tsuchiya, E.; Nakamura, Y.: Molecular cloning of a candidate tumor suppressor gene, DLC1, from chromosome 3p21.3. Cancer Res. 59: 1966-1972, 1999.
[0014241]4829.Migone, T.-S.; Zhang, J.; Luo, X.; Zhuang, L.; Chen, C.; Hu, B.; Hong, J. S.; Perry, J. W.; Chen, S.-F.; Zhou, J. X. H.; Cho, Y. H.; Ullrich, S.; and 14 others: TL1A is a TNF-like ligand for DR3 and TR6/DcR3 and functions as a T cell costimulator. Immunity 16: 479-492, 2002.
[0014242]4830.Zhai, Y.; Ni, J.; Jiang, G.-W.; Lu, J.; Xing, L.; Lincoln, C.; Carter, K. C.; Janat, F.; Kozak, D.; Xu, S.; Rojas, L.; Aggarwal, B. B.; Ruben, S.; Li, L.-Y.; Gentz, R.; Yu, G.-L.: VEGI, a novel cytokine of the tumor necrosis factor family, is an angiogenesis inhibitor that suppresses the growth of colon carcinomas in vivo. FASEB J. 13: 181-189, 1999.
[0014243]4831.Yue, T.-L.; Ni, J.; Romanic, A. M.; Gu, J.-L.; Keller, P.; Wang, C.; Kumar, S.; Yu, G.; Hart, T. K.; Wang, X.; Xia, Z.; DeWolf, W. E., Jr.; Feuerstein, G. Z.: TL1, a novel tumor necrosis factorlike cytokine, induces apoptosis in endothelial cells: involvement of activation of stress protein kinases (stress-activated protein kinase and p38 mitogen-activated protein kinase) and caspase-3-like protease. J. Biol. Chem. 274: 1479-1486, 1999.
[0014244]4832.Gu, Z.; Flemington, C.; Chittenden, T.; Zambetti, G. P.: Ei24, a p53 response gene involved in growth suppression and apoptosis. Molec. Cell. Biol. 20: 233-241, 2000.
[0014245]4833.Gu, Z.; Gilbert, D. J.; Valentine, V. A.; Jenkins, N. A.; Copeland, N. G.; Zambetti, G. P.: The p53-inducible gene EI24/PIG8 localizes to human chromosome 11q23 and the proximal region of mouse chromosome 9. Cytogenet. Cell Genet. 89: 230-233, 2000.
[0014246]4834.Polyak, K.; Xia, Y.; Zweier, J. L.; Kinzler, K. W.; Vogelstein, B.: A model for p53-induced apoptosis. Nature 389: 300-305, 1997.
[0014247]4835.Forsberg, L.; Leeb, L.; Thoren, S.; Morgenstern, R.; Jakobsson, P.-J.: Human glutathione dependent prostaglandin E synthase: gene structure and regulation. FEBS Lett. 471: 78-82, 2000.
[0014248]4836.Jakobsson, P.-J.; Morgenstern, R.; Mancini, J.; Ford-Hutchinson, A.; Persson, B.: Common structural features of MAPEG: a widespread superfamily of membrane associated proteins with highly divergent functions in eicosanoid and glutathione metabolism. Protein Sci. 8: 689-692, 1999.
[0014249]4837.Jakobsson, P.-J.; Thoren, S.; Morgenstern, R.; Samuelsson, B.: Identification of human prostaglandin E synthase: a microsomal, glutathione-dependent, inducible enzyme, constituting a potential novel drug target. Proc. Nat. Acad. Sci. 96: 7220-7225, 1999.
[0014250]4838.Hernandez, M.-C.; Andres-Barquin, P. J.; Holt, I.; Israel, M. A. : Cloning of human ENC-1 and evaluation of its expression and regulation in nervous system tumors. Exp. Cell Res. 242: 470-477, 1998.
[0014251]4839.Hernandez, M.-C.; Andres-Barquin, P. J.; Israel, M. A.: Assignment of the ectodermalneural cortex 1 gene (Enc1) to mouse chromosome band 13D1 by fluorescence in situ hybridization. Cytogenet. Cell Genet. 89: 158-159, 2000.
[0014252]4840.Hernandez, M.-C.; Andres-Barquin, P. J.; Kuo, W. L.; Israel, M. A.: Assignment of the ectodermal-neural cortex 1 gene (ENC1) to human chromosome band 5q13 by in situ hybridization. Cytogenet. Cell Genet. 87: 89-90, 1999.
[0014253]4841.Kim, T.-A.; Lim, J.; Ota, S.; Raja, S.; Rogers, R.; Rivnay, B.; Avraham, H.; Avraham, S.: NRP/B, a novel nuclear matrix protein, associates with p110(RB) and is involved in neuronal differentiation. J. Cell Biol. 141: 553-566, 1998.
[0014254]4842.Rosenfeld, M. G.; Mermod, J.-J.; Amara, S. G.; Swanson, L. W.; Sawchenko, P. E.; Rivier, J.; Vale, W. W.; Evans, R. M.: Production of a novel neuropeptide encoded by the calcitonin gene via tissue-specific RNA processing. Nature 304: 129-135, 1983.
[0014255]4843.Saller, B.; Feldmann, G.; Haupt, K.; Broecker, M.; Janssen, O. E.; Roggendorf, M.; Mann, K.; Lu, M.: RT-PCR-based detection of circulating calcitonin-producing cells in patients with advanced medullary thyroid cancer. J. Clin. Endocr. Metab. 87: 292-296, 2002.
[0014256]4844.Simpson, N. E.; Goodfellow, P. J.; Riddell, D. C.; Hamerton, J. L.; Holden, J. J. A.; White, B. N.: Assignment of the calcitonin gene to chromosome 11 and probable exclusion of linkage between the gene and the locus for multiple endocrine neoplasia type 2. (Abstract) Am. J. Hum. Genet. 36: 153S, 1984.
[0014257]4845.Struthers, A. D.; Brown, M. J.; Macdonald, D. W. R.; Beacham, J. L.; Stevenson, J. C.; Morris, H. R.; MacIntyre, I.: Human calcitonin gene related peptide: a potent endogenous vasodilator in man. Clin. Sci. 70: 389-393, 1986.
[0014258]4846.Testa, J. R.: Personal Communication. Baltimore, Md. 3/1984.
[0014259]4847.Tiller-Borcich, J. K.; Capili, H.; Gordan, G. S.: Human brain calcitonin gene-related peptide (CGRP) is concentrated in the locus caeruleus. Neuropeptides 11: 55-61, 1988.
[0014260]4848.Tippins, J. R.: CGRP: a novel neuropeptide from the calcitonin gene is the most potent vasodilator known. J. Hypertension 4 (suppl. 5): S102-S105, 1986.
[0014261]4849.Tschopp, F. A.; Henke, H.; Petermann, J. B.; Tobler, P. H.; Janzer, R.; Hokfelt, T.; Lundberg, J. M.; Cuello, C.; Fischer, J. A.: Calcitonin gene-related peptide and its binding sites in the human central nervous system and pituitary. Proc. Nat. Acad. Sci. 82: 248-252, 1985.
[0014262]4850.Christopoulos, G.; Perry, K. J.; Morfis, M.; Tilakaratne, N.; Gao, Y.; Fraser, N. J.; Main, M. J.; Foord, S. M.; Sexton, P. M.: Multiple amylin receptors arise from receptor activity-modifying protein interaction with the calcitonin receptor gene product. Molec. Pharm. 56: 235-242, 1999.
[0014263]4851.Bourgeois, P.; Stoetzel, C.; Bolcato-Bellemin, A. L.; Mattei, M. G.; Perrin-Schmitt, F.: The human H-twist gene is located at 7p21 and encodes a B-HLH protein that is 96% similar to its murine M-twist counterpart. Mammalian Genome 7: 915-917, 1996.
[0014264]4852.Dollfus, H.; Biswas, P.; Kumaramanickavel, G.; Stoetzel, C.; Quillet, R.; Biswas, J.; Lajeunie, E.; Renier, D.; Perrin-Schmitt, F.: Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation. Am. J. Med. Genet. 109: 218-225, 2002.
[0014265]4853.Dollfus, H.; Kumaramanickavel, G.; Biswas, P.; Stoetzel, C.; Quillet, R.; Denton, M.; Maw, M.; Perrin-Schmitt, F.: Identification of a new TWIST mutation (7p21) with variable eyelid manifestations supports locus homogeneity of BPES at 3q22. (Letter) J. Med. Genet. 58: 470-471, 2001.
[0014266]4854.El Ghouzzi, V.; Le Merrer, M.; Perrin-Schmitt, F.; Lajeunie, E.; Benit, P.; Renier, D.; Bourgeois, P.; Bolcato-Bellemin, A.-L.; Munnich, A.; Bonaventure, J.: Mutations of the TWIST gene in the Saethre-Chotzen syndrome. Nature Genet. 15: 42-46, 1997.
[0014267]4855.Howard, T. D.; Paznekas, W. A.; Green, E. D.; Chiang, L. C.; Ma, N.; Ortiz De Luna, R. I.; Delgado, C. G.; Gonzalez-Ramos, M.; Kline, A. D.; Jabs, E. W.: Mutations in TWIST, a basic helixloop-helix transcription factor, in Saethre-Chotzen syndrome. Nature Genet. 15: 36-41, 1997.
[0014268]4856.Maw, M.; Kar, B.; Biswas, J.; Biswas, P.; Nancarrow, D.; Denton, M.; Bridges, R.; Kumaramanickavel, G.; Badrinath, S. S.: Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p. Hum. Molec. Genet. 5: 2049-2054, 1996.
[0014269]4857.Hagen, F. S.; Grant, F. J.; Kuijper, J. L.; Slaughter, C. A.; Moomaw, C. R.; Orth, K.; O'Hara, P. J.; Munford, R. S.: Expression and characterization of recombinant human acyloxyacyl hydrolase, a leukocyte enzyme that deacylates bacterial lipopolysaccharides. Biochemistry 30: 8415-8423, 1991.
[0014270]4858.Whitmore, T. E.; Mathewes, S. L.; O'Hara, P. J.; Durnam, D. M. : Chromosomal localization of the acyloxyacyl hydrolase (AOAH) gene to 7p14-p12 using fluorescence in situ hybridization. Genomics 21: 457-458, 1994.
[0014271]4859.Morinaga, T.; Yasuda, H.; Hashimoto, T.; Higashio, K.; Tamaoki, T.: A human alphafetoprotein enhancer-binding protein, ATBF1, contains four homeodomains and seventeen zinc fingers. Molec. Cell. Biol. 11: 6041-6049, 1991.
[0014272]4860.Yamada, K.; Ma, D.; Miura, Y.; Ido, A.; Tamaoki, T.; Yoshida, M. C.: Assignment of the ATBF1 transcription factor gene (Atbf1) to mouse chromosome band 8E1 by in situ hybridization. Cytogenet. Cell Genet. 75: 30-31, 1996.
[0014273]4861.Yamada, K.; Mirua, Y.; Scheidl, T.; Yoshida, M. C.; Tamaoki, T. : Assignment of the human ATBF1 transcription factor gene to chromosome 16q22.3-q23.1. Genomics 29: 552-553, 1995.
[0014274]4862.Abbott, C. A.; Baker, E.; Sutherland, G. R.; McCaughan, G. W.: Genomic organization, exact localization, and tissue expression of the human CD26 (dipeptidyl peptidase IV) gene. Immunogenetics 40: 331-338, 1994.
[0014275]4863.Callebaut, C.; Krust, B.; Jacotot, E.; Hovanessian, A. G.: T cell activation antigen, CD26, as a cofactor for entry of HIV in CD4+ cells. Science 262: 2045-2050, 1993.
[0014276]4864.Darmoul, D.; Lacasa, M.; Chantret, I.; Swallow, D. M.; Trugnan, G.: Isolation of a cDNA probe for the human intestinal dipeptidylpeptidase IV and assignment of the gene locus DPP4 to chromosome 2. Ann. Hum. Genet. 54: 191-197, 1990.
[0014277]4865.Herbschleb-Voogt, E.; Grzeschik, K.-H.; Pearson, P. L.; Meera Khan, P.: Assignment of adenosine deaminase complexing protein (ADCP) gene(s) to human chromosome 2 in rodent-human somatic cell hybrids. Hum. Genet. 59: 317-323, 1981.
[0014278]4866.Kameoka, J.; Tanaka, T.; Nojima, Y.; Schlossman, S. F.; Morimoto, C.: Direct association of adenosine deaminase with a T cell activation antigen, CD26. Science 261: 466-469, 1993.
[0014279]4867.Koch, G. A.; Shows, T. B.: Genes on human chromosomes 2 and 6 are required for expression of the adenosine deaminase complexing protein (ADCP) in human-mouse somatic cell hybrids. (Abstract) Cytogenet. Cell Genet. 25: 174, 1979.
[0014280]4868.Marguet, D.; Baggio, L.; Kobayashi, T.; Bernard, A.-M.; Pierres, M.; Nielsen, P. F.; Ribel, U.; Watanabe, T.; Drucker, D. J.; Wagtmann, N.: Enhanced insulin secretion and improved glucose tolerance in mice lacking CD26. Proc. Nat. Acad. Sci. 97: 6874-6879, 2000.
[0014281]4869.Mathew, S.; Morrison, M. E.; Murty, V. V. V. S.; Houghton, A. N.; Chaganti, R. S. K.: Assignment of the DPP4 gene encoding adenosine deaminase binding protein (CD26/dipeptidylpeptidase IV) to 2q23. Genomics 22: 211-212, 1994.
[0014282]4870.Misumi, Y.; Hayashi, Y.; Arakawa, F.; Ikehara, Y.: Molecular cloning and sequence analysis of human dipeptidyl peptidase IV, a serine proteinase on the cell surface. Biochim. Biophys. Acta 1131: 333-336, 1992.
[0014283]4871.Morrison, M. E.; Vijayasaradhi, S.; Engelstein, D.; Albino, A. P.; Houghton, A. N.: A marker for neoplastic progression of human melanocytes is a cell surface ectopeptidase. J. Exp. Med. 117: 1135-1143, 1993.
[0014284]4872.Van Cong, N.; Weil, D.; Gross, M.-S.; Foubert, C.; Jami, J.; Frezal, J.: Controle genetique et epigenetique de l'expression de l'adenosine deaminase. Analyse des cellules humaines et hybrides homme-rongeur. Ann. Genet. 24: 141-147, 1981.
[0014285]4873.Bundey, S.: Recent views on genetic factors in retinoblastoma. (Abstract) J. Med. Genet. 17: 386-387, 1980.
[0014286]4874.Bundey, S.; Morten, J. E. N.: An unusual pedigree with retinoblastoma. Does it shed light on the delayed mutation and host resistance theories? Hum. Genet. 59: 434-436, 1981.
[0014287]4875.Cance, W. G.; Brennan, M. F.; Dudas, M. E.; Huang, C.-M.; Cordon-Cardo, C.: Altered expression of the retinoblastoma gene product in human sarcomas. New Eng. J. Med. 323: 1457-1462, 1990.
[0014288]4876.Canning, S.; Dryja, T. P.: Short, direct repeats at the breakpoints of deletions of the retinoblastoma gene. Proc. Nat. Acad. Sci. 86: 5044-5048, 1989.
[0014289]4877.Carlson, E. A.; Desnick, R. J.: Mutational mosaicism and genetic counseling in retinoblastoma. Am. J. Med. Genet. 4: 365-381, 1979.
[0014290]4878.Cavenee, W. K.: The genetic basis of neoplasia: the retinoblastoma paradigm. Trends Genet. 2: 299-300, 1986.
[0014291]4879.Cavenee, W. K.; Dryja, T. P.; Phillips, R. A.; Benedict, W. F.; Godbout, R.; Gallie, B. L.; Murphree, A. L.; Strong, L. C.; White, R. L.: Expression of recessive alleles by chromosomal mechanisms in retinoblastoma. Nature 305: 779-784, 1983.
[0014292]4880.Cavenee, W. K.; Hansen, M. F.; Nordenskjold, M.; Kock, E.; Maumenee, I.; Squire, J. A.; Phillips, R. A.; Gallie, B. L.: Genetic origin of mutations predisposing to retinoblastoma. Science 228: 501-503, 1985.
[0014293]4881.Cavenee, W. K.; Murphree, A. L.; Shull, M. M.; Benedict, W. F.; Sparkes, R. S.; Kock, E.; Nordenskjold, M.: Prediction of familial predisposition to retinoblastoma. New Eng. J. Med. 314: 1201-1207, 1986.
[0014294]4882.Chano, T.; Ikegawa, S.; Kontani, K.; Okabe, H.; Baldini, N.; Saeki, Y.: Identification of RB1CC1, a novel human gene that can induce RB1 in various human cells. Oncogene 21: 1295-1298, 2002.
[0014295]4883.Chauveinc, L.; Mosseri, V.; Quintana, E.; Desjardins, L.; Schlienger, P.; Doz, F.; Dutrillaux, B.: Osteosarcoma following retinoblastoma: age at onset and latency period. Ophthalmic Genet. 22: 77-88, 2001.
[0014296]4884.Chen, P.-L.; Scully, P.; Shew, J.-Y.; Wang, J. Y. J.; Lee, W.-H. : Phosphorylation of the retinoblastoma gene product is modulated during the cell cycle and cellular differentiation. Cell 58: 1193-1198, 1989.
[0014297]4885.Connolly, M. J.; Payne, R. H.; Johnson, G.; Gallie, B. L.; Allderdice, P. W.; Marshall, W. H.; Lawton, R. D.: Familial, EsD-linked, retinoblastoma with reduced penetrance and variable expressivity. Hum. Genet. 65: 122-124, 1983.
[0014298]4886.Cowell, J. K.; Bia, B.: A novel missense mutation in patients from a retinoblastoma pedigree showing only mild expression of the tumor phenotype. Oncogene 16: 3211-3213, 1998.
[0014299]4887.Cowell, J. K.; Rutland, P.; Hungerford, J.; Jay, M.: Deletion of chromosome region 13q14 is transmissible and does not always predispose to retinoblastoma. Hum. Genet. 80: 43-45, 1988.
[0014300]4888.Cowell, J. K.; Rutland, P.; Jay, M.; Hungerford, J.: Deletions of the esterase D locus from a survey of 200 retinoblastoma patients. Hum. Genet. 72: 164-167, 1986.
[0014301]4889.Cowell, J. K.; Smith, T.; Bia, B.: Frequent constitutional C to T mutations in CGAarginine codons in the RB1 gene produce premature stop codons in patients with bilateral (hereditary) retinoblastoma. Europ. J. Hum. Genet. 2: 281-290, 1994.
[0014302]4890.Dahiya, A.; Wong, S.; Gonzalo, S.; Gavin, M.; Dean, D. C.: Linking the Rb and Polycomb pathways. Molec. Cell 8: 557-568, 2001.
[0014303]4891.Davison, E. V.; Gibbons, B.; Aherne, G. E. S.; Roberts, D. F. : Chromosomes in retinoblastoma patients. Clin. Genet. 15: 505-508, 1979.
[0014304]4892.DeCaprio, J. A.; Ludlow, J. W.; Lynch, D.; Furukawa, Y.; Griffin, J.; Piwnica-Worms, H.; Huang, C.-M.; Livingston, D. M.: The product of the retinoblastoma susceptibility gene has properties of a cell cycle regulatory element. Cell 58: 1085-1095, 1989.
[0014305]4893.de Grouchy, J.; Turleau, C.; Cabanis, M. O.; Richardet, J. M. : Retinoblastome et deletion intercalaire du chromosome 13. Arch. Franc. Pediat. 37: 531-535, 1980.
[0014306]4894.Dryja, T.; Cavenee, W.; Epstein, J.; Rapaport, J.; Goorin, A.; Koufos, A.: Chromosome 13 homozygosity in osteogenic sarcoma without retinoblastoma. (Abstract) Am. J. Hum. Genet. 36: 28S, 1984.
[0014307]4895.Dryja, T. P.; Bruns, G. A. P.; Gallie, B.; Petersen, R.; Green, W.; Rapaport, J. M.; Albert, D. M.; Gerald, P. S.: Low incidence of deletion of the esterase D locus in retinoblastoma patients. Hum. Genet. 64: 151-155, 1983.
[0014308]4896.Dryja, T. P.; Cavenee, W.; White, R.; Rapaport, J. M.; Petersen, R.; Albert, D. M.; Bruns, G. A. P.: Homozygosity of chromosome 13 in retinoblastoma. New Eng. J. Med. 310: 550-553, 1984.
[0014309]4897.Dryja, T. P.; Friend, S.; Weinberg, R. A.: Isolation of a cDNA fragment derived from human retina mRNA which detects a locus within 13q14 often deleted in retinoblastomas. (Abstract) Am. J. Hum. Genet. 39: A29, 1986.
[0014310]4898.Dryja, T. P.; Mukai, S.; Petersen, R.; Rapaport, J. M.; Walton, D.; Yandell, D. W.: Parental origin of mutations of the retinoblastoma gene. Nature 339: 556-558, 1989.
[0014311]4899.Dryja, T. P.; Mukai, S.; Rapaport, J. M.; Yandell, D. W.: Parental origin of mutations of the retinoblastoma gene. (Abstract) Am. J. Hum. Genet. 45 (suppl.): A19, 1989.
[0014312]4900.Messer Peters, P. G.; Kamarck, M. E.; Hemler, M. E.; Strominger, J. L.; Ruddle, F. H.: Genetic and biochemical characterization of a human surface determinant on somatic cell hybrids: the 4F2 antigen. Somat. Cell Genet. 8: 825-834, 1982.
[0014313]4901.Markert, C. L.; Silvers, W. K.: The effects of genotype and cell environment on melanoblast differentiation in the house mouse. Genetics 41: 429-450, 1956.
[0014314]4902.Koch, M. C.; Baumbach, K.; George, A. L.; Ricker, K.: Paramyotonia congenita without paralysis on exposure to cold: a novel mutation in the SCN4A gene (val1293ile). Neuroreport 6: 2001-2004, 1995.
[0014315]4903.Bell, L. R.; Maine, E. M.; Schedl, P.; Cline, T. W.: Sex-lethal, a Drosophila sex determination switch gene, exhibits sex-specific RNA splicing and sequence similarity to RNA binding proteins. Cell 55: 1037-1046, 1988.
[0014316]4904.Fletcher, C. F.; Okano, H. J.; Gilbert, D. J.; Yang, Y.; Yang, C.; Copeland, N. G.; Jenkins, N. A.; Darnell, R. B.: Mouse chromosomal locations of nine genes encoding homologs of human paraneoplastic neurologic disorder antigens. Genomics 45: 313-319, 1997.
[0014317]4905.King, P. H.; Levine, T. D.; Fremeau, R. T., Jr.; Keene, J. D.: Mammalian homologs of Drosophila elav localized to a neuronal subset can bind in vitro to the 3-prime UTR of mRNA encoding the Id transcriptional repressor. J. Neurosci. 14: 1943-1952, 1994.
[0014318]4906.Levine, T. D.; Gao, F.; King, P. H.; Andrews, L. G.; Keene, J. D.: He1-N1: an autoimmune RNA-binding protein with specificity for 3-prime uridylate-rich untranslated regions of growth factor mRNAs. Molec. Cell. Biol. 13: 3494-3504, 1993.
[0014319]4907.Muresu, R.; Baldini, A.; Gress, T.; Posner, J. B.; Furneaux, H. M.; Siniscalco, M.: Mapping of the gene coding for a paraneoplastic encephalomyelitis antigen (HuD) to human chromosome site 1p34. Cytogenet. Cell Genet. 65: 177-178, 1994.
[0014320]4908.Robinow, S.; Campos, A. R.; Yao, K.-M.; White, K.: The elav gene product of Drosophila, required in neurons, has three RNP consensus motifs. Science 242: 1570-1572, 1988.
[0014321]4909.Szabo, A.; Dalmau, J.; Manley, G.; Rosenfeld, M.; Wong, E.; Henson, J.; Posner, J. B.; Furneaux, H. M.: HuD, a paraneoplastic encephalomyelitis antigen, contains RNA-binding domains and is homologous to elav and sex-lethal. Cell 67: 325-333, 1991.
[0014322]4910.Arnold, A.; Kim, H. G.; Gaz, R. D.; Eddy, R. L.; Fukushima, Y.; Byers, M. G.; Shows, T. B.; Kronenberg, H. M.: Molecular cloning and chromosomal mapping of DNA rearranged with the parathyroid hormone gene in a parathyroid adenoma. J. Clin. Invest. 83: 2034-2040, 1989.
[0014323]4911.Mehta, A. D.; Rock, R. S.; Rief, M.; Spudich, J. A.; Mooseker, M. S.; Cheney, R. E.: Myosin-V is a processive actin-based motor. Nature 400: 590-593, 1999.
[0014324]4912.Mercer, J. A.; Seperack, P. K.; Strobel, M. C.; Copeland, N. G.; Jenkins, N. A.: Novel myosin heavy chain encoded by murine dilute coat colour locus. Nature 349: 709-713, 1991.
[0014325]4913.Moore, K. J.; Testa, J. R.; Francke, U.; Milatovich, A.; Copeland, N. G.; Jenkins, N. A.: Cloning and regional assignment of the human myosin heavy chain 12 (MYH12) gene to chromosome band 15q21. Cytogenet. Cell Genet. 69: 53-58, 1995.
[0014326]4914.Pastural, E.; Barrat, F. J.; Dufourcq-Lagelouse, R.; Certain, S.; Sanal, O.; Jabado, N.; Seger, R.; Griscelli, C.; Fischer, A.; de Saint Basile, G.: Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene. Nature Genet. 16: 289-292, 1997. Note: Erratum: Nature Genet. 23: 373 only, 1999.
[0014327]4915.Rief, M.; Rock, R. S.; Mehta, A. D.; Mooseker, M. S.; Cheney, R. E.; Spudich, J. A.: Myosin-V stepping kinetics: a molecular model for processivity. Proc. Nat. Acad. Sci. 97: 9482-9486, 2000.
[0014328]4916.Russell, E. S.: A quantitative histological study of the pigment found in the coat-color mutants of the house mouse. IV. The nature of the effects of genic substitution in five major allelic series. Genetics 34: 146-166, 1949.
[0014329]4917.Kitada, T.; Asakawa, S.; Minoshima, S.; Mizuno, Y.; Shimizu, N. : Molecular cloning, gene expression, and identification of a splicing variant of the mouse parkin gene. Mammalian Genome 11: 417-421, 2000.
[0014330]4918.Lucking, C. B.; Abbas, N.; Durr, A.; Bonifati, V.; Bonnet, A.-M.; de Broucker, T.; De Michele, G.; Wood, N. W.; Agid, Y.; Brice, A. : Homozygous deletions in parkin gene in European and North African families with autosomal recessive juvenile parkinsonism. Lancet 352: 1355-1356, 1998.
[0014331]4919.Musahl, C.; Schulte, D.; Burkhart, R.; Knippers, R.: A human homologue of the yeast replication protein Cdc21: interactions with other Mcm proteins. Europ. J. Biochem. 230: 1096-1101, 1995.
[0014332]4920.Anderson, D. M.; Maraskovsky, E.; Billingsley, W. L.; Dougall, W. C.; Tometsko, M. E.; Roux, E. R.; Teepe, M. C.; DuBose, R. F.; Cosman, D.; Galibert, L.: A homologue of the TNF receptor and its ligand enhance T-cell growth and dendritic-cell function. Nature 390: 175-179, 1997.
[0014333]4921.Nykjaer, A.; Fyfe, J. C.; Kozyraki, R.; Leheste, J.-R.; Jacobsen, C.; Nielsen, M. S.; Verroust, P. J.; Aminoff, M.; de la Chapelle, A.; Moestrup, S. K.; Ray, R.; Gliemann, J.; Willnow, T. E.; Christensen, E. I.: Cubilin dysfunction causes abnormal metabolism of the steroid hormone 25(OH) vitamin D3. Proc. Nat. Acad. Sci. 98: 13895-13900, 2001.
[0014334]4922.Udell, C. M.; Lee, S. K.; Davey, S.: HRAD1 and MRAD1 encode mammalian homologues of the fission yeast rad1+ cell cycle checkpoint control gene. Nucleic Acids Res. 26: 3971-3976, 1998.
[0014335]4923.Carvajal, J. J.; Pook, M. A.; dos Santos, M.; Doudney, K.; Hillermann, R.; Minogue, S.; Williamson, R.; Hsuan, J. J.; Chamberlain, S.: The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4-phosphate 5-kinase. Nature Genet. 14: 157-162, 1996.
[0014336]4924.Carvajal, J. J.; Pook, M. A.; Doudney, K.; Hillermann, R.; Wilkes, D.; Al-Mahdawi, S.; Williamson, R.; Chamberlain, S.: Friedreich's ataxia: a defect in signal transduction? Hum. Molec. Genet. 4: 1411-1419, 1995.
[0014337]4925.Pook, M. A.; Carvajal, J. J; Doudney, K.; Hillermann, R.; Chamberlain, S.: Exon-intron structure of a 2.7-kb transcript of the STM7 gene with phosphatidylinositol-4-phosphate 5-kinase activity. Genomics 42: 170-172, 1997.
[0014338]4926.Carfi, A.; Willis, S. H.; Whitbeck, J. C.; Krummenacher, C.; Cohen, G. H.; Eisenberg, R. J.; Wiley, D. C.: Herpes simplex virus glycoprotein D bound to the human receptor HveA. Molec. Cell 8: 169-179, 2001.
[0014339]4927.Hsu, H.; Solovyev, I.; Colombero, A.; Elliott, R.; Kelley, M.; Boyle, W. J.: ATAR, a novel tumor necrosis factor receptor family member, signals through TRAF2 and TRAF5. J. Biol. Chem. 272: 13471-13474, 1997.
[0014340]4928.Marsters, S. A.; Ayres, T. M.; Skubatch, M.; Gray, C. L.; Rothe, M.; Ashkenazi, A.: Herpesvirus entry mediator, a member of the tumor necrosis factor receptor (TNFR) family, interacts with members of the TNFR-associated factor family and activates the transcription factors NF-kappa-B and AP-1. J. Biol. Chem. 272: 14029-14032, 1997.
[0014341]4929.Montgomery, R. I.; Warner, M. S.; Lum, B. J.; Spear, P. G.: Herpes simplex virus-1 entry into cells mediated by a novel member of the TNF/NGF receptor family. Cell 87: 427-436, 1996.
[0014342]4930.Kwon, B. S.; Tan, K. B.; Ni, J.; Oh, K.-O.; Lee, Z. H.; Kim, K. K.; Kim, Y.-J.; Wang, S.; Gentz, R.; Yu, G.-L.; Harrop, J.; Lyn, S. D.; Silverman, C.; Porter, T. G.; Truneh, A.; Young, P. R.: A newly identified member of the tumor necrosis factor receptor superfamily with a wide tissue distribution and involvement in lymphocyte activation. J. Biol. Chem. 272: 14272-14276, 1997.
[0014343]4931.Morel, Y.; Schiano de Colella, J.-M.; Harrop, J.; Deen, K. C.; Holmes, S. D.; Wattam, T. A.; Khandekar, S. S.; Truneh, A.; Sweet, R. W.; Gastaut, J.-A.; Olive, D.; Costello, R. T.: Reciprocal expression of the TNF family receptor herpes virus entry mediator and its ligand LIGHT on activated T cells: LIGHT down-regulates its own receptor. J. Immun. 165: 4397-4404, 2000.
[0014344]4932.Guan, K.-L.; Butch, E.: Isolation and characterization of a novel dual specific phosphatase, HVH2, which selectively dephosphorylates the mitogen-activated protein kinase. J. Biol. Chem. 270: 7197-7203, 1995.
[0014345]4933.Smith, A.; Price, C.; Cullen, M.; Muda, M.; King, A.; Ozanne, B.; Arkinstall, S.; Ashworth, A.: Chromosomal localization of three human dual specificity phosphatase genes (DUSP4, DUSP6, and DUSP7). Genomics 42: 524-527, 1997.
[0014346]4934.Furukawa, T.; Yatsuoka, T.; Youssef, E. M.; Abe, T.; Yokoyama, T.; Fukushige, S.; Soeda, E.; Hoshi, M.; Hayashi, Y.; Sunamura, M.; Kobari, M.; Horii, A.: Genomic analysis of DUSP6, a dual specificity MAP kinase phosphatase, in pancreatic cancer. Cytogenet. Cell Genet. 82: 156-159, 1998.
[0014347]4935.Groom, L. A.; Sneddon, A. A.; Alessi, D. R.; Dowd, S.; Keyse, S. M.: Differential regulation of the MAP, SAP and RK/p38 kinases by Pyst1, a novel cytosolic dual-specificity phosphatase. EMBO J. 15: 3621-3632, 1996.
[0014348]4936.Muda, M.; Boschert, U.; Dickinson, R.; Martinou, J.-C.; Martinou, I.; Camps, M.; Schlegel, W.; Arkinstall, S.: MKP-3, a novel cytosolic protein-tyrosine phosphatase that exemplifies a new class of mitogen-activated protein kinase phosphatase. J. Biol. Chem. 271: 4319-4326, 1996.
[0014349]4937.Smith, A.; Price, C.; Cullen, M.; Muda, M.; King, A.; Ozanne, B.; Arkinstall, S.; Ahsworth, A.: Chromosomal localization of three human dual specificity phosphatase genes (DUSP4, DUSP6, and DUSP7). Genomics 42: 524-527, 1997.
[0014350]4938.Nishihira, J.; Fujinaga, M.; Kuriyama, T.; Suzuki, M.; Sugimoto, H.; Nakagawa, A.; Tanaka, I.; Sakai, M.: Molecular cloning of human D-dopachrome tautomerase cDNA: N-terminal proline is essential for enzyme activation. Biochem. Biophys. Res. Commun. 243: 538-544, 1998.
[0014351]4939.Blouin, J.-L.; Sail, G. D.; Guipponi, M.; Rossier, C.; Pappasavas, M.-P.; Antonarakis, S. E.: Isolation of the human BACH1 transcription regulator gene, which maps to chromosome 21q22.1. Hum. Genet. 102: 282-288, 1998.
[0014352]4940.Strehl, S.; Glatt, K.; Liu, Q. M.; Glatt, H.; Lalande, M.: Characterization of two novel protocadherins (PCDH8 and PCDH9) localized on human chromosome 13 and mouse chromosome 14. Genomics 53: 81-89, 1998.
[0014353]4941.Ohbayashi, N.; Hoshikawa, M.; Kimura, S.; Yamasaki, M.; Fukui, S.; Itoh, N.: Structure and expression of the mRNA encoding a novel fibroblast growth factor, FGF-18. J. Biol. Chem. 273: 18161-18164, 1998.
[0014354]4942.Jackson, A.; Panayiotidis, P.; Foroni, L.: The human homologue of the Drosophila tailless gene (TLX): characterization and mapping to a region of common deletion in human lymphoid leukemia on chromosome 6q21. Genomics 50: 34-43, 1998.
[0014355]4943.Monaghan, A. P.; Bock, D.; Gass, P.; Schwager, A.; Wolfer, D. P.; Lipp, H.-P.; Schutz, G.: Defective limbic system in mice lacking the tailless gene. Nature 390: 515-517, 1997.
[0014356]4944.Yu, R. T.; McKeown, M.; Evans, R. M.; Umesono, K.: Relationship between Drosophila gap gene tailless and a vertebrate nuclear receptor Tlx. Nature 370: 375-379, 1994.
[0014357]4945.Plougastel, B.; Trowsdale, J.: Cloning of NKG2-F, a new member of the NKG2 family of human natural killer cell receptor genes. Europ. J. Immun. 27: 2835-2839, 1997.
[0014358]4946.Sutherland, C. L.; Chalupny, N. J.; Schooley, K.; VandenBos, T.; Kubin, M.; Cosman, D.: UL16-binding proteins, novel MHC class I-related proteins, bind to NKG2D and activate multiple signaling pathways in primary NK cells. J. Immun. 168: 671-679, 2002.
[0014359]4947.Wu, J.; Song, Y.; Bakker, A. B. H.; Bauer, S.; Spies, T.; Lanier, L. L.; Phillips, J. H.: An activating immunoreceptor complex formed by NKG2D and DAP10. Science 285: 730-732, 1999.
[0014360]4948.Chang, C.; Rodriguez, A.; Carretero, M.; Lopez-Botet, M.; Phillips, J. H.; Lanier, L. L.: Molecular characterization of human CD94: a type II membrane glycoprotein related to the C-type lectin superfamily. Europ. J. Immun. 25: 2433-2437, 1995.
[0014361]4949.Lazetic, S.; Chang, C.; Houchins, J. P.; Lanier, L. L.; Phillips, J. H.: Human natural killer cell receptors involved in MHC class I recognition are disulfide-linked heterodimers of CD94 and NKG2 subunits. J. Immun. 157: 4741-4745, 1996.
[0014362]4950.Rodriguez, A.; Carretero, M.; Glienke, J.; Bellon, T.; Ramirez, A.; Lehrach, H.; Francis, F.; Lopez-Botet, M.: Structure of the human CD94 C-type lectin gene. Immunogenetics 47: 305-309, 1998.
[0014363]4951.Volkmer, E.; Karnitz, L. M.: Human homologs of Schizosaccharomyces pombe Rad1, Hus1, and Rad9 form a DNA damage-responsive protein complex. J. Biol. Chem. 274: 567-570, 1999.
[0014364]4952.Brandner, J. M.; Reidenbach, S.; Franke, W. W.: Evidence that 'pinin,' reportedly a differentiation-specific desmosomal protein, is actually a widespread nuclear protein. Differentiation 62: 119-127, 1997.
[0014365]4953.Brandner, J. M.; Reidenbach, S.; Kuhn, C.; Franke, W. W.: Identification and characterization of a novel kind of nuclear protein occurring free in nucleoplasm and in ribonucleoprotein structures of the 'speckle' type. Europ. J. Cell Biol. 75: 295-308, 1998.
[0014366]4954.Degen, W. G. J.; Agterbos, M. A.; Muyrers, J. P. P.; Bloemers, H. P. J.; Swart, G. W. M.: memA/DRS, a putative mediator of multiprotein complexes, is overexpressed in the metastasizing human melanoma cell lines BLM and MV3. Biochim. Biophys. Acta 1444: 384-394, 1999.
[0014367]4955.Ouyang, P.; Sugrue, S. P.: Characterization of pinin, a novel protein associated with the desmosome-intermediate filament complex. J. Cell Biol. 135: 1027-1042, 1996.
[0014368]4956.Puente, X. S.; Lopez-Otin, C.: Cloning and expression analysis of a novel human serine hydrolase with sequence similarity to prokaryotic enzymes involved in the degradation of aromatic compounds. J. Biol. Chem. 270: 12926-12932, 1995.
[0014369]4957.Puente, X. S.; Pendas, A. M.; Lopez-Otin, C.: Structural characterization and chromosomal localization of the gene encoding human biphenyl hydrolase-related protein (BPHL). Genomics 51: 459-462, 1998.
[0014370]4958.Janssen, J. W. G.; Schleithoff, L.; Bartram, C. R.; Schulz, A. S.: An oncogenic fusion product of the phosphatidylinositol 3-kinase p85-beta subunit and HUMORF8, a putative deubiquitinating enzyme. Oncogene 16: 1767-1772, 1998.
[0014371]4959.Chadwick, B. P.; Williamson, J.; Sheer, D.; Frischauf, A.-M.: cDNA cloning and chromosomal mapping of a mouse gene with homology to NTPases. Mammalian Genome 9: 162-164, 1998.
[0014372]4960.Yeung, G.; Mulero, J. J.; McGowan, D. W.; Bajwa, S. S.; Ford, J. E.: CD39L2, a gene encoding a human nucleoside diphosphatase, predominantly expressed in the heart. Biochemistry 39: 12916-12923, 2000.
[0014373]4961.Mulero, J. J.; Yeung, G.; Nelken, S. T.; Bright, J. M.; McGowan, D. W.; Ford, J. E.: Biochemical characterization of CD39L4. Biochemistry 39: 12924-12928, 2000.
[0014374]4962.Mulero, J. J.; Yeung, G.; Nelken, S. T.; Ford, J. E.: CD39-L4 is a secreted human apyrase, specific for the hydrolysis of nucleoside diphosphates. J. Biol. Chem. 274: 20064-20067, 1999.
[0014375]4963.Ghaedi, K.; Honsho, M.; Shimozawa, N.; Suzuki, Y.; Kondo, N.; Fujiki, Y.: PEX3 is the causal gene responsible for peroxisome membrane assembly-defective Zellweger syndrome of complementation group G. Am. J. Hum. Genet. 67: 976-981, 2000.
[0014376]4964.Kammerer, S.; Holzinger, A.; Welsch, U.; Roscher, A. A.: Cloning and characterization of the gene encoding the human peroxisomal assembly protein Pex3p. FEBS Lett. 429: 53-60, 1998.
[0014377]4965.Muntau, A. C.; Holzinger, A.; Mayerhofer, P. U.; Gartner, J.; Roscher, A. A.; Kammerer, S.: The human PEX3 gene encoding a peroxisomal assembly protein: genomic organization, positional mapping, and mutation analysis in candidate phenotypes. Biochem. Biophys. Res. Commun. 268: 704-710, 2000.
[0014378]4966.Muntau, A. C.; Mayerhofer, P. U.; Paton, B. C.; Kammerer, S.; Roscher, A. A.: Defective peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, complementation group G. Am. J. Hum. Genet. 67: 967-975, 2000.
[0014379]4967.Seetharam, B.; Christensen, E. I.; Moestrup, S. K.; Hammond, T. G.; Verroust, P. J.: Identification of rat yolk sac target protein of teratogenic antibodies, gp280, as intrinsic factor-cobalamin receptor. J. Clin. Invest. 99: 2317-2322, 1997.
[0014380]4968.Xu, D.; Kozyraki, R.; Newman, T. C.; Fyfe, J. C.: Genetic evidence of an accessory activity required specifically for cubilin brush-border expression and intrinsic factor-cobalamin absorption. Blood 94: 3604-3606, 1999.
[0014381]4969.Doherty, M. J.; Young, P. R.; Cohen, P. T. W.: Amino acid sequence of a novel protein phosphatase 1 binding protein (R5) which is related to the liver- and muscle-specific glycogen binding subunits of protein phosphatase 1. FEBS Lett. 399: 339-343, 1996.
[0014382]4970.Seroussi, E.; Pan, H.-Q.; Kedra, D.; Roe, B. A.; Dumanski, J. P. : Characterization of the human NIPSNAP1 gene from 22q12: a member of a novel gene family. Gene 212: 13-20, 1998.
[0014383]4971.Holzinger, A.; Kammerer, S.; Roscher, A. A.: Primary structure of human PMP69, a putative peroxisomal ABC-transporter. Biochem. Biophys. Res. Commun. 237: 152-157, 1997.
[0014384]4972.Holzinger, A.; Roscher, A. A.; Landgraf, P.; Lichtner, P.; Kammerer, S.: Genomic organization and chromosomal localization of the human peroxisomal membrane protein-1-like protein (PXMP1-L) gene encoding a peroxisomal ABC transporter. FEBS Lett. 426: 238-242, 1998.
[0014385]4973.Shani, N.; Jimenez-Sanchez, G.; Steel, G.; Dean, M.; Valle, D. : Identification of a fourth half ABC transporter in the human peroxisomal membrane. Hum. Molec. Genet. 6: 1925-1931, 1997.
[0014386]4974.Wang, H.; Frelin, L.; Pevsner, J.: Human syntaxin 7: a Pep12p/Vps6p homologue implicated in vesicle trafficking to lysosomes. Gene 199: 39-48, 1997.
[0014387]4975.Fink, M.; Duprat, F.; Lesage, F.; Reyes, R.; Romey, G.; Heurteaux, C.; Lazdunski, M.: Cloning, functional expression and brain localization of a novel unconventional outward rectifier K+ channel. EMBO J. 15: 6854-6862, 1996.
[0014388]4976.Lesage, F.; Lazdunski, M.: Mapping of human potassium channel genes TREK-1 (KCNK2) and TASK (KCNK3) to chromosomes 1q41 and 2p23. Genomics 51: 478-479, 1998.
[0014389]4977.Duprat, F.; Lesage, F.; Fink, M.; Reyes, R.; Heurteaux, C.; Lazdunski, M.: TASK, a human background K+ channel to sense external pH variations near physiological pH. EMBO J. 16: 5464-5471, 1997.
[0014390]4978.Manjunath, N. A.; Bray-Ward, P.; Goldstein, S. A. N.; Gallagher, P. G.: Assignment of the 2P domain, acid-sensitive potassium channel OAT1 gene KCNK3 to human chromosome bands 2p24.1-p23.3 and murine 5B by in situ hybridization. Cytogenet. Cell Genet. 86: 242-243, 1999.
[0014391]4979.Hacker, B. M.; Tomlinson, J. E.; Wayman, G. A.; Sultana, R.; Chan, G.; Villacres, E.; Disteche, C.; Storm, D. R.: Cloning, chromosomal mapping, and regulatory properties of the human type 9 adenylyl cyclase (ADCY9). Genomics 50: 97-104, 1998.
[0014392]4980.Paterson, J. M.; Smith, S. M.; Harmar, A. J.; Antoni, F. A.: Control of a novel adenylyl cyclase by calcineurin. Biochem. Biophys. Res. Commun. 214: 1000-1008, 1995.
[0014393]4981.Premont, R. T.; Matsuoka, I.; Mattei, M. G.; Pouille, Y.; Defer, N.; Hanoune, J.: Identification and characterization of a widely expressed form of adenylyl cyclase. J. Biol. Chem. 271: 13900-13907, 1996.
[0014394]4982.Toyota, T.; Hattori, E.; Meerabux, J.; Yamada, K.; Saito, K.; Shibuya, H.; Nankai, M.; Yoshikawa, T.: Molecular analysis, mutation screening, and association study of adenylate cyclase type 9 gene (ADCY9) in mood disorders. Am. J. Med. Genet. (Neuropsychiat. Genet.) 114: 84-92, 2002.
[0014395]4983.Chi, N.-W.; Lodish, H. F.: Tankyrase is a Golgi-associated mitogen-activated protein kinase substrate that interacts with IRAP in GLUT4 vesicles. J. Biol. Chem. 275: 38437-38444, 2000.
[0014396]4984.Seimiya, H.; Smith, S.: The telomeric poly(ADP-ribose) polymerase, tankyrase 1, contains multiple binding sites for telomeric repeat binding factor 1 (TRF1) and a novel acceptor, 182-kDa tankyrase-binding protein (TAB182). J. Biol. Chem. 277: 14116-14126, 2002.
[0014397]4985.Smith, S.; Giriat, I.; Schmitt, A.; de Lange, T.: Tankyrase, a poly(ADP-ribose) polymerase at human telomeres. Science 282: 1484-1487, 1998.
[0014398]4986.Zhu, L.; Smith, S.; de Lange, T.; Seldin, M. F.: Chromosomal mapping of the tankyrase gene in human and mouse. Genomics 57: 320-321, 1999.
[0014399]4987.Hidai, H.; Bardales, R.; Goodwin, R.; Quertermous, T.; Quertermous, E. E.: Cloning of capsulin, a basic helix-loop-helix factor expressed in progenitor cells of the pericardium and the coronary arteries. Mech. Dev. 73: 33-43, 1998.
[0014400]4988.Lu, J.; Chang, P.; Richardson, J. A.; Gan, L.; Weiler, H.; Olson, E. N.: The basic helixloop-helix transcription factor capsulin controls spleen organogenesis. Proc. Nat. Acad. Sci. 97: 9525-9530, 2000.
[0014401]4989.Lu, J.; Richardson, J. A.; Olson, E. N.: Capsulin: a novel bHLH transcription factor expressed in epicardial progenitors and mesenchyme of visceral organs. Mech. Dev. 73: 23-32, 1998.
[0014402]4990.Quaggin, S. E.; Vanden Heuvel, G. B.; Igarashi, P.: Pod-1, a mesoderm-specific basichelix-loop-helix protein expressed in mesenchymal and glomerular epithelial cells in the developing kidney. Mech. Dev. 71: 37-48, 1998.
[0014403]4991.Robb, L.; Mifsud, L.; Hartley, L.; Biben, C.; Copeland, N. G.; Gilbert, D. J.; Jenkins, N. A.; Harvey, R. P.: Epicardin: a novel basic helix-loop-helix transcription factor gene expressed in epicardium, branchial arch myoblasts, and mesenchyme of developing lung, gut, kidney, and gonads. Dev. Dyn. 213: 105-113, 1998.
[0014404]4992.Stacey, P.; Rulten, S.; Dapling, A.; Phillips, S. C.: Molecular cloning and expression of human cGMP-binding cGMP-specific phosphodiesterase (PDE5). Biochem. Biophys. Res. Commun. 247: 249-254, 1998.
[0014405]4993.Yanaka, N.; Kotera, J.; Ohtsuka, A.; Akatsuka, H.; Imai, Y.; Michibata, H.; Fujishige, K.; Kawai, E.; Takebayashi, S.-I.; Okumura, K.; Omori, K.: Expression, structure and chromosomal localization of the human cGMP-binding cGMP-specific phosphodiesterase PDE5A gene. Eur. J. Biochem. 255: 391-399, 1998.
[0014406]4994.Athanassiadou, A.; Voutsinas, G.; Psiouri, L.; Leroy, E.; Polymeropoulos, M. H.; Ilias, A.; Maniatis, G. M.; Papapetropoulos, T.: Genetic analysis of families with Parkinson disease that carry the ala53-to-thr mutation in the gene encoding alpha-synuclein. (Letter) Am. J. Hum. Genet. 65: 555-558, 1999.
[0014407]4995.Auluck, P. K.; Chan, H. Y. E.; Trojanowski, J. Q.; Lee, V. M.-Y.; Bonini, N. M.: Chaperone suppression of alpha-synuclein toxicity in a Drosophila model for Parkinson's disease. Science 295: 865-868, 2002.
[0014408]4996.Campion, D.; Martin, C.; Heilig, R.; Charbonnier, F.; Moreau, V.; Flaman, J. M.; Petit, J. L.; Hannequin, D.; Brice, A.; Frebourg, T. : The NACP/synuclein gene: chromosomal assignment and screening for alterations in Alzheimer disease. Genomics 26: 254-257, 1995.
[0014409]4997.Chen, X.; Rohan de Silva, H. A.; Pettenati, M. J.; Rao, P. N.; St. George-Hyslop, P.; Roses, A. D.; Xia, Y.; Horsburgh, K.; Ueda, K.; Saitoh, T.: The human NACP/alpha-synuclein gene: chromosome assignment to 4q21.3-q22 and TaqI RFLP analysis. Genomics 26: 425-427, 1995.
[0014410]4998.Conway, K. A.; Lee, S.-J.; Rochet, J.-C.; Ding, T. T.; Williamson, R. E.; Lansbury, P. T., Jr.: Acceleration of oligomerization, not fibrillization, is a shared property of both alpha-synuclein mutations linked to early-onset Parkinson's disease: implications for pathogenesis and therapy. Proc. Nat. Acad. Sci. 97: 571-576, 2000.
[0014411]4999.Engelender, S.; Kaminsky, Z.; Guo, X.; Sharp, A. H.; Amaravi, R. K.; Kleiderlein, J. J.; Margolis, R. L.; Troncoso, J. C.; Lanahan, A. A.; Worley, P. F.; Dawson, V. L.; Dawson, T. M.; Ross, C. A.: Synphilin-1 associates with alpha-synuclein and promotes the formation of cytosolic inclusions. Nature Genet. 22: 110-114, 1999.
[0014412]5000.Farrer, M.; Wavrant-De Vrieze, F.; Crook, R.; Boles, L.; Perez-Tur, J.; Hardy, J.; Johnson, W. G.; Steele, J.; Maraganore, D.; Gwinn, K.; Lynch, T.: Low frequency of alpha-synuclein mutations in familial Parkinson's disease. Ann. Neurol. 43: 394-397, 1998.
[0014413]5001.Feany, M. B.; Bender, W. W.: A Drosophila model of Parkinson's disease. Nature 404: 394-398, 2000.
[0014414]5002.George, J. M.; Jin, H.; Woods, W. S.; Clayton, D. F.: Characterization of a novel protein regulated during the critical period for song learning in the zebra finch. Neuron 15: 361-372, 1995.
[0014415]5003.Giasson, B. I.; Duda, J. E.; Murray, I. V. J.; Chen, Q.; Souza, J. M.; Hurtig, H. I.; Ischiropoulos, H.; Trojanowski, J. Q.; Lee, V. M.-Y.: Oxidative damage linked to neurodegeneration by selective alpha-synuclein nitration in synucleinopathy lesions. Science 290: 985-989, 2000.
[0014416]5004.Goedert, M.: The awakening of alpha-synuclein. Nature 388: 232-233, 1997.
[0014417]5005.Ho, S.-L.; Kung, M. H. W.: G209A mutation in the alpha-synuclein gene is rare and not associated with sporadic Parkinson's disease. Mov. Disord. 13: 970-971, 1998.
[0014418]5006.Jakes, R.; Spillantini, M. G.; Goedert, M.: Identification of two distinct synucleins from human brain. FEBS Lett. 345: 27-32, 1994.
[0014419]5007.Kruger, R.; Kuhn, W.; Leenders, K. L.; Sprengelmeyer, R.; Muller, T.; Woitalla, D.; Portman, A. T.; Maguire, R. P.; Veenma, L.; Schroder, U.; Schols, L.; Epplen, J. T.; Riess, O.; Przuntek, H.: Familial parkinsonism with synuclein pathology: clinical and PET studies of A30P mutation carriers. Neurology 56: 1355-1362, 2001.
[0014420]5008.Kruger, R.; Kuhn, W.; Muller, T.; Woitalla, D.; Graeber, M.; Kosel, S.; Przuntek, H.; Epplen, J. T.; Schols, L.; Riess, O.: Ala30-to-pro mutation in the gene encoding alpha-synuclein in Parkinson's disease. (Letter) Nature Genet. 18: 106-108, 1998.
[0014421]5009.Mark, J.; Dahlenfors, R.; Ekedahl, C.; Stenman, G.: The mixed salivary gland tumor--a normally benign human neoplasm frequently showing specific chromosomal abnormalities. Cancer Genet. Cytogenet. 2: 231-234, 1980.
[0014422]5010.Mark, J.; Dahlenfors, R.; Ekedahl, C.; Stenman, G.: Chromosomal patterns in a benign human neoplasm, the mixed salivary gland tumour. Hereditas 96: 141-148, 1982.
[0014423]5011.Rapp, U. R.; Goldsborough, M. D.; Mark, G. E.; Bonner, T. I.; Groffen, J.; Reynolds, F. H., Jr.; Stephenson, J. R.: Structure and biological activity of v-raf, a unique oncogene transduced by a retrovirus. Proc. Nat. Acad. Sci. 80: 4218-4222, 1983.
[0014424]5012.Shimizu, K.; Nakatsu, Y.; Sekiguchi, M.; Hokamura, K.; Tanaka, K.; Terada, M.; Sugimura, T.: Molecular cloning of an activated human oncogene, homologous to v-raf, from primary stomach cancer. Proc. Nat. Acad. Sci. 82: 5641-5645, 1985.
[0014425]5013.Tory, K.; Latif, F.; Modi, W.; Schmidt, L.; Wei, M. H.; Li, H.; Cobler, P.; Orcutt, M. L.; Delisio, J.; Geil, L.; Zbar, B.; Lerman, M. I.: A genetic linkage map of 96 loci on the short arm of human chromosome 3. Genomics 13: 275-286, 1992.
[0014426]5014.Amiel, J.; Salomon, R.; Attie, T.; Pelet, A.; Trang, H.; Mokhtari, M.; Gaultier, C.; Munnich, A.; Lyonnet, S.: Mutations of the RET-GDNF signaling pathway in Ondine's curse. (Letter) Am. J. Hum. Genet. 62: 715-717, 1998.
[0014427]5015.Angrist, M.; Bolk, S.; Thiel, B.; Puffenberger, E. G.; Hofstra, R. M.; Buys, C. H. C. M.; Cass, D. T.; Chakravarti, A.: Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease. Hum. Molec. Genet. 4: 821-830, 1995.
[0014428]5016.Antinolo, G.; Marcos, I.; Fernandez, R. M.; Romero, M.; Borrego, S.: A novel germline point mutation, c.2304G(T, in codon 768 of the RET proto-oncogene in a patient with medullary thyroid carcinoma. (Letter) Am. J. Med. Genet. 110: 85-87, 2002.
[0014429]5017.Attie, T.; Pelet, A.; Edery, P.; Eng, C.; Mulligan, L. M.; Amiel, J.; Boutrand, L.; Beldjord, C.; Nihoul-Fekete, C.; Munnich, A.; Ponder, B. A. J.; Lyonnet, S.: Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease. Hum. Molec. Genet. 4: 1381-1386, 1995.
[0014430]5018.Attie-Bitach, T.; Abitbol, M.; Gerard, M.; Delezoide, A.-L.; Auge, J.; Pelet, A.; Amiel, J.; Pachnis, V.; Munnich, A.; Lyonnet, S.; Vekemans, M.: Expression of the RET proto-oncogene in human embryos. Am. J. Med. Genet. 80: 481-486, 1998.
[0014431]5019.Auricchio, A.; Griseri, P.; Carpentieri, M. L.; Betsos, N.; Staiano, A.; Tozzi, A.; Priolo, M.; Thompson, H.; Bocciardi, R.; Romeo, G.; Ballabio, A.; Ceccherini, I.: Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease. (Letter) Am. J. Hum. Genet. 64: 1216-1221, 1999.
[0014432]5020.Batourina, E.; Choi, C.; Paragas, N.; Bello, N.; Hensle, T.; Costantini, F. D.; Schuchardt, A.; Bacallao, R. L.; Mendelsohn, C. L.: Distal ureter morphogenesis depends on epithelial cell remodeling mediated by vitamin A and Ret. Nature Genet. 32: 109-115, 2002. Note: Erratum: Nature Genet. 32: 331 only, 2002.
[0014433]5021.Batourina, E.; et al; et al: Vitamin A controls epithelial/mesenchymal interactions through Ret expression. Nature Genet. 27: 74-78, 2001.
[0014434]5022.Berndt, I.; Reuter, M.; Saller, B.; Frank-Raue, K.; Groth, P.: Grubendorf, M.; Raue, F.; Ritter, M. M.; Hoppner, W.: A new hot spot for mutations in the ret protooncogene causing familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2A. J. Clin. Endocr. Metab. 83: 770-774, 1998.
[0014435]5023.Boccia, L. M.; Green, J. S.; Joyce, C.; Eng, C.; Taylor, S. A. M.; Mulligan, L. M.: Mutation of RET codon 768 is associated with the FMTC phenotype. Clin. Genet. 51: 81-85, 1997.
[0014436]5024.Bolino, A.; Schuffenecker, I.; Luo, Y.; Seri, M.; Silengo, M.; Tocco, T.; Chabrier, G.; Houdent, C.; Murat, A.; Schlumberger, M.; Tourniaire, J.; Lenoir, G. M.; Romeo, G.: RET mutations in exons 13 and 14 of FMTC patients. Oncogene 10: 2415-2419, 1995.
[0014437]5025.Bolk, S.; Angrist, M.; Schwartz, S.; Silvestri, J. M.; Weese-Mayer, D. E.; Chakravarti, A.: Congenital central hypoventilation syndrome: mutation analysis of the receptor tyrosine kinase RET. Am. J. Med. Genet. 63: 603-609, 1996.
[0014438]5026.Bolk Gabriel, S.; Salomon, R.; Pelet, A.; Angrist, M.; Amiel, J.; Fornage, M.; Attie-Bitach, T.; Olson, J. M.; Hofstra, R.; Buys, C.; Steffann, J.; Munnich, A.; Lyonnet, S.; Chakravarti, A.: Segregation at three loci explains familial and population risk in Hirschsprung disease. Nature Genet. 31: 89-93, 2002.
[0014439]5027.Ceccherini, I.; Hofstra, R. M.; Luo, Y.; Stulp, R. P.; Barone, V.; Stelwagen, T.; Bocciardi, R.; Nijveen, H.; Bolino, A.; Seri, M.; Ronchetto, P.; Pasini, B.; Bozzano, M.; Buys, C. H. C. M.; Romeo, G.: DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the Ret protooncogene. Oncogene 9: 3025-3029, 1994.
[0014440]5028.Cohn, D. H.; Byers, P. H.; Steinmann, B.; Gelinas, R. E.: Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro-alpha-1(I) collagen allele. Proc. Nat. Acad. Sci. 83: 6045-6047, 1986.
[0014441]5029.Genovese, C.; Brufsky, A.; Shapiro, J.; Rowe, D.: Detection of mutations in human type I collagen mRNA in osteogenesis imperfecta by indirect RNase protection. J. Biol. Chem. 264: 9632-9637, 1989.
[0014442]5030.Furlong, C. E.; Richter, R. J.; Chapline, C.; Crabb, J. W.: Purification of rabbit and human serum paraoxonase. Biochemistry 30: 10133-10140, 1991.
[0014443]5031.Furlong, C. E.; Richter, R. J.; Seidel, S. L.; Motulsky, A. G. : Role of genetic polymorphism of human plasma paraoxonase/arylesterase in hydrolysis of the insecticide metabolites chlorpyrifos oxon and paraoxon. Am. J. Hum. Genet. 43: 230-238, 1988.
[0014444]5032.Garin, M.-C. B.; James, R. W.; Dussoix, P.; Blanche, H.; Passa, P.; Froguel, P.; Ruiz, J.: Paraoxonase polymorphism met-leu54 is associated with modified serum concentrations of the enzyme: a possible link between the paraoxonase gene and increased risk of cardiovascular disease in diabetes. J. Clin. Invest. 99: 62-66, 1997.
[0014445]5033.Geldmacher-von Mallinckrodt, M.: Polymorphism of human serum paraoxonase. Hum. Genet. 45 (suppl. 1): 65-68, 1978.
[0014446]5034.Geldmacher-von Mallinckrodt, M.; Lindorft, H. H.; Petenyi, M.; Flugel, M.; Fischer, T.; Hiller, T.: Genetisch determinierter Polymorphismus de menschlichen Serum-Paroxonase (E.C.3.1.1.2). Humangenetik 17: 331-335, 1973.
[0014447]5035.Hassett, C.; Richter, R. J.; Humbert, R.; Chapline, C.; Crabb, J. W.; Omiecinski, C. J.; Furlong, C. E.: Characterization of cDNA clones encoding rabbit and human serum paraoxonase: the mature protein retains its signal sequence. Biochemistry 30: 10141-10149, 1991.
[0014448]5036.Humbert, R.; Adler, D. A.; Disteche, C. M.; Hassett, C.; Omiecinski, C. J.; Furlong, C. E.: The molecular basis of the human serum paraoxonase activity polymorphism. Nature Genet. 3: 73-76, 1993.
[0014449]5037.Ito, T.; Yasue, H.; Yoshimura, M.; Nakamura, S.; Nakayama, M.; Shimasaki, Y.; Harada, E.; Mizuno, Y.; Kawano, H.; Ogawa, H.: Paraoxonase gene gln192-to-arg (Q192R) polymorphism is associated with coronary artery spasm. Hum. Genet. 110: 89-94, 2002.
[0014450]5038.Kao, Y.-L.; Donaghue, K.; Chan, A.; Knight, J.; Silink, M.: A variant of paraoxonase (PON1) gene is associated with diabetic retinopathy in IDDM. J. Clin. Endocr. Metab. 83: 2589-2592, 1998.
[0014451]5039.La Du, B. N.: The human serum paraoxonase/arylesterase polymorphism. (Editorial) Am. J. Hum. Genet. 43: 227-229, 1988.
[0014452]5040.Li, W.-F.; Furlong, C. E.; Costa, L. G.: Paraoxonase protects against chlorpyrifos toxicity in mice. Toxic. Lett. 76: 219-226, 1995.
[0014453]5041.Li, W.-F.; Matthews, C.; Disteche, C. M.; Costa, L. G.; Furlong, C. E.: Paraoxonase (Pon1) gene in mice: sequencing, chromosomal localization and developmental expression. Pharmacogenetics 7: 137-144, 1997.
[0014454]5042.Mackness, B.; Mackness, M. I.; Arrol, S.; Turkie, W.; Durrington, P. N.: Effect of the human serum paraoxonase 55 and 192 genetic polymorphisms on the protection by high density lipoprotein against low density lipoprotein oxidative modification. FEBS Lett. 423: 57-60, 1998.
[0014455]5043.Mochizuki, H.; Scherer, S. W.; Xi, T.; Nickle, D. C.; Majer, M.; Huizenga, J. J.; Tsui, L.-C.; Prochazka, M.: Human PON2 gene at 7q21.3: cloning, multiple mRNA forms, and missense polymorphisms in the coding sequence. Gene 213: 149-157, 1998.
[0014456]5044.Mueller, R. F.; Hornung, S.; Furlong, C. E.; Anderson, J.; Giblett, E. R.; Motulsky, A. G.: Plasma paraoxonase polymorphism: a new enzyme assay, population, family, biochemical, and linkage studies. Am. J. Hum. Genet. 35: 393-408, 1983.
[0014457]5045.Navab, M.; Hama-Levy, S.; Van Lenten, B. J.; Fonarow, G. C.; Cardinez, C. J.; Castellani, L. W.; Brennan, M.-L.; Lusis, A. J.; Fogelman, A. M.: Mildly oxidized LDL induces an increased apolipoprotein J/paraoxonase ratio. J. Clin. Invest. 99: 2005-2019, 1997.
[0014458]5046.Neel, J. V.; Tanis, R. J.; Migliazza, E. C.; Spielman, R. S.; Salzano, F. M.; Oliver, W. J.; Morrow, M.; Bachofer, S.: Genetic studies of the Macushi and Wapishana Indians. I. Rare genetic variants and a 'private polymorphism' of esterase A. Hum. Genet. 36: 81-108, 1977.
[0014459]5047.Nielsen, A.; Eiberg, H.; Mohr, J.: Number of loci responsible for the inheritance of high and low activity of paraoxonase. Clin. Genet. 29: 216-221, 1986.
[0014460]5048.Odawara, M.; Tachi, Y.; Yamashita, K.: Paraoxonase polymorphism Gln192-Arg is associated with coronary heart disease in Japanese noninsulin-dependent diabetes mellitus. J. Clin. Endocr. Metab. 82: 2257-2260, 1997.
[0014461]5049.Ortigoza-Ferado, J.; Richter, R. J.; Hornung, S. K.; Motulsky, A. G.; Furlong, C. E.: Paraoxon hydrolysis in human serum mediated by a genetically variable arylesterase and albumin. Am. J. Hum. Genet. 36: 295-305, 1984.
[0014462]5050.Paolisso, G.; Manzella, D.; Tagliamonte, M. R.; Barbieri, M.; Marfella, R.; Zito, G.; Bonafe, M.; Giugliano, D.; Franceschi, C.; Varricchio, M.: The BB-paraoxonase genotype is associated with impaired brachial reactivity after acute hypertriglyceridemia in healthy subjects. J. Clin. Endocr. Metab. 86: 1078-1082, 2001.
[0014463]5051.Playfer, J. R.; Eze, L. C.; Bullen, M. F.; Evans, D. A. P.: Genetic polymorphism and interethnic variability of plasma paroxonase activity. J. Med. Genet. 13: 337-342, 1976.
[0014464]5052.Schmiegelow, K.; Eiberg, H.; Tsui, L.-C.; Buchwald, M.; Phelan, P. D.; Williamson, R.; Warwick, W.; Niebuhr, E.; Mohr, J.; Schwartz, M.; Koch, C.: Linkage between the loci for cystic fibrosis and paraoxonase. Clin. Genet. 29: 374-377, 1986.
[0014465]5053.Serrato, M.; Marian, A. J.: A variant of human paraoxonase/arylesterase (HUMPONA) gene is a risk factor for coronary artery disease. J. Clin. Invest. 96: 3005-3008, 1995.
[0014466]5054.Shih, D. M.; Gu, L.; Xia, Y.-R.; Navab, M.; Li, W.-F.; Hama, S.; Castellani, L. W.; Furlong, C. E.; Costa, L. G.; Fogelman, A. M.; Lusis, A. J.: Mice lacking serum paraoxonase are susceptible to organophosphate toxicity and atherosclerosis. Nature 394: 284-287, 1998.
[0014467]5055.Simpson, N. E.: Serum arylesterase levels of activity in twins and their parents. Am. J. Hum. Genet. 23: 375-382, 1971.
[0014468]5056.Sorenson, R. C.; Primo-Parmo, S. L.; Camper, S.; La Du, B. N. : The genetic mapping and gene structure of mouse paraoxonase/arylesterase. Genomics 30: 431-438, 1995.
[0014469]5057.Tashian, R. E.: Genetic variation and evolution of the carboxylic esterases and carbonic anhydrases of primate erythrocytes. Am. J. Hum. Genet. 17: 257-272, 1965.
[0014470]5058.Tashian, R. E.; Shaw, M. W.: Inheritance of an erythrocyte acetylesterase variant of man. Am. J. Hum. Genet. 14: 295-300, 1962.
[0014471]5059.Tsui, L.-C.; Buchwald, M.; Barker, D.; Braman, J. C.; Knowlton, R.; Schumm, J. W.; Eiberg, H.; Mohr, J.; Kennedy, D.; Plavsic, N.; Zsiga, M.; Markiewicz, D.; Akots, G.; Brown, V.; Helms, C.; Gravius, T.; Parker, C.; Rediker, K.; Donis-Keller, H.: Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker. Science 230: 1054-1057, 1985.
[0014472]5060.Gogolin, K. J.; Wray, L. K.; Slaughter, C. A.; Harris, H.: A monoclonal antibody that reacts with nonallelic enzyme glycoproteins. Science 216: 59-61, 1982.
[0014473]5061.Goldstein, D. J.; Rogers, C. E.; Harris, H.: Expression of alkaline phosphatase loci in mammalian tissues. Proc. Nat. Acad. Sci. 77: 2857-2860, 1980.
[0014474]5062.Gould, B. S.: Studies on the source of serum phosphatase: the nature of the increased serum phosphatase in rats after fat feeding. Arch. Biochem. 4: 175-181, 1944.
[0014475]5063.Griffin, C. A.; Smith, M.; Henthorn, P. S.; Harris, H.; Weiss, M. J.; Raducha, M.; Emanuel, B. S.: Human placental and intestinal alkaline phosphatase genes map to 2q34-q37. Am. J. Hum. Genet. 41: 1025-1034, 1987.
[0014476]5064.Henthorn, P. S.; Raducha, M.; Edwards, Y. H.; Weiss, M. J.; Slaughter, C.; Lafferty, M. A.; Harris, H.: Nucleotide and amino acid sequences of human intestinal alkaline phosphatase: close homology to placental alkaline phosphatase. Proc. Nat. Acad. Sci. 84: 1234-1238, 1987.
[0014477]5065.Henthorn, P. S.; Raducha, M.; Kadesch, T.; Weiss, M. J.; Harris, H.: Sequence and characterization of the human intestinal alkaline phosphatase gene. J. Biol. Chem. 263: 12011-12019, 1988.
[0014478]5066.Langman, M. J. S.; Leuthold, E.; Robson, E. B.; Harris, J.; Luffman, J. E.; Harris, H.: Influence of diet on the 'intestinal' component of serum alkaline phosphatase in people of different ABO blood groups and secretor status. Nature 212: 41-43, 1966.
[0014479]5067.Lehmann, F.-G.: Human alkaline phosphatases: evidence of three isoenzymes (placental, intestinal and liver-bone-kidney-type) by lectin-binding affinity and immunological specificity. Biochim. Biophys. Acta 616: 41-59, 1980.
[0014480]5068.Fedde, K. N.; Whyte, M. P.: Alkaline phosphatase (tissue-nonspecific isoenzyme) is a phosphoethanolamine and pyridoxal-5-prime-phosphate ectophosphatase: normal and hypophosphatasia fibroblast study. Am. J. Hum. Genet. 47: 767-775, 1990.
[0014481]5069.Goseki-Sone, M.; Orimo, H.; Iimura, T.; Miyazaki, H.; Oda, K.; Shibata, H.; Yanagishita, M.; Takagi, Y.; Watanabe, H.; Shimada, T.; Oida, S.: Expression of the mutant (1735TDEL) tissue-nonspecific alkaline phosphatase gene from hypophosphatasia patients. J. Bone Miner. Res. 13: 1827-1834, 1998.
[0014482]5070.Greenberg, C. R.; Evans, J. A.; McKendry-Smith, S.; Redekopp, S.; Haworth, J. C.; Mulivor, R.; Chodirker, B. N.: Infantile hypophosphatasia: localization within chromosome region 1p36.1-34 and prenatal diagnosis using linked DNA markers. Am. J. Hum. Genet. 46: 286-292, 1990.
[0014483]5071.Greenberg, C. R.; Taylor, C. L. D.; Haworth, J. C.; Seargeant, L. E.; Philipps, S.; Triggs-Raine, B.; Chodirker, B. N.: A homoallelic gly317-to-asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian Mennonites. Genomics 17: 215-217, 1993.
[0014484]5072.Henthorn, P. S.; Whyte, M. P.: Missense mutations of the tissue-nonspecific alkaline phosphatase gene in hypophosphatasia. Clin. Chem. 38: 2501-2505, 1992.
[0014485]5073.Hu, J. C. C.; Plaetke, R.; Mornet, E.; Zhang, C.; Sun, X.; Thomas, H. F.; Simmer, J. P.: Case report of a family with dominant hypophosphatasia. Eur. J. Oral Sci. 108: 189-194, 2000.
[0014486]5074.Hua, J.-C.; Berger, J.; Pan, Y.-C. E.; Hulmes, J. D.; Udenfriend, S.: Partial sequencing of human adult, human fetal, and bovine intestinal alkaline phosphatases: comparison with the human placental and liver isozymes. Proc. Nat. Acad. Sci. 83: 2368-2372, 1986.
[0014487]5075.Kishi, F.; Matsuura, S.; Murano, I.; Akita, A.; Kajii, T.: Prenatal diagnosis of infantile hypophosphatasia. Prenatal Diag. 11: 305-309, 1991.
[0014488]5076.Lia-Baldini, A. S.; Muller, F.; Taillandier, A.; Gibrat, J. F.; Mouchard, M.; Robin, B.; Simon-Bouy, B.; Serre, J. L.; Aylsworth, A. S.; Bieth, E.; Delanote, S.; Freisinger, P.; Hu, J. C.-C.; Krohn, H.-P.; Nunes, M. E.; Mornet, E.: A molecular approach to dominance in hypophosphatasia. Hum. Genet. 109: 99-108, 2001.
[0014489]5077.Matsuura, S.; Kishi, F.; Kajii, T.: Characterization of a 5-prime-flanking region of the human liver/bone/kidney alkaline phosphatase gene: two kinds of mRNA from a single gene. Biochem. Biophys. Res. Commun. 168: 993-1000, 1990.
[0014490]5078.Ny, T.; Sawdey, M.; Lawrence, D.; Millan, J. L.; Loskutoff, D. J.: Cloning and sequence of a cDNA coding for the human beta-migrating endothelial-cell-type plasminogen activator inhibitor. Proc. Nat. Acad. Sci. 83: 6776-6780, 1986.
[0014491]5079.Pannekoek, H.; Veerman, H.; Lambers, H.; Diergaarde, P.; Verweij, C. L.; van Zonneveld, A.-J.; van Mourik, J. A.: Endothelial plasminogen activator inhibitor (PAI): a new member of the serpin gene family. EMBO J. 5: 2539-2544, 1986.
[0014492]5080.Pastinen, T.; Perola, M.; Niini, P.; Terwilliger, J.; Salomaa, V.; Vartiainen, E.; Peltonen, L.; Syvanen, A.-C.: Array-based multiplex analysis of candidate genes reveals two independent and additive genetic risk factors for myocardial infarction in the Finnish population. Hum. Molec. Genet. 7: 1453-1462, 1998.
[0014493]5081.Patrassi, G. M.; Sartori, M. T.; Saggiorato, G.; Boeri, G.; Girolami, A.: Familial thrombophila (sic) associated with high levels of plasminogen activator inhibitor. Fibrinolysis 6: 99-103, 1992.
[0014494]5082.Schleef, R. R.; Higgins, D. L.; Pillemer, E.; Levitt, L. J.: Bleeding diathesis due to decreased functional activity of type 1 plasminogen activator inhibitor. J. Clin. Invest. 83: 1747-1752, 1989.
[0014495]5083.Schwartz, C. E.; Stanislovitis, P.; Phelan, M. C.; Klinger, K.; Taylor, H. A.; Stevenson, R. E.: Deletion mapping of plasminogen activator inhibitor, type I (PLANH1) and beta-glucuronidase (GUSB) in 7q21-q22. Cytogenet. Cell Genet. 51: 152-153, 1991.
[0014496]5084.van Zonneveld, A.-J.; Curriden, S. A.; Loskutoff, D. J.: Type 1 plasminogen activator inhibitor gene: functional analysis and glucocorticoid regulation of its promoter. Proc. Nat. Acad. Sci. 85: 5525-5529, 1988.
[0014497]5085.Westendorp, R. G. J.; Hottenga, J.-J.; Slagboom, P. E.: Variation in plasminogenactivator-inhibitor-1 gene and risk of meningococcal septic shock. Lancet 354: 561-563, 1999.
[0014498]5086.Yamada, N.; Arinami, T.; Yamakawa-Kobayashi, K.; Watanabe, H.; Sohda, S.; Hamada, H.; Kubo, T.; Hamaguchi, H.: The 4G/5G polymorphism of the plasminogen activator inhibitor-1 gene is associated with severe preeclampsia. J. Hum. Genet. 45: 138-141, 2000.
[0014499]5087.Yamamoto, K.; Takeshita, K.; Shimokawa, T.; Yi, H.; Isobe, K.; Loskutoff, D. J.; Saito, H.: Plasminogen activator inhibitor-1 is a major stress-regulated gene: implications for stress-induced thrombosis in aged individuals. Proc. Nat. Acad. Sci. 99: 890-895, 2002.
[0014500]5088.Aznar, J.; Estelles, A.; Vila, V.; Reganon, E.; Espana, F.; Villa, P.: Inherited fibrinolytic disorder due to an enhanced plasminogen activator level. Thromb. Haemost. 52: 196-200, 1984.
[0014501]5089.Benham, F. J.; Spurr, N.; Povey, S.; Brinton, B. T.; Solomon, E.; Goodfellow, P. N.; Harris, T. J. R.: Tissue-type plasminogen activator (PLAT) maps to chromosome 8 and there is a common restriction fragment length polymorphism within the gene. (Abstract) Cytogenet. Cell Genet. 40: 581 only, 1985.
[0014502]5090.Booth, N. A.; Bennett, B.; Wijngaards, G.; Grieve, J. H. K.: A new life-long hemorrhagic disorder due to excess plasminogen activator. Blood 61: 267-275, 1983.
[0014503]5091.Bell, L. D.; Smith, J. C.; Derbyshire, R.; Finlay, M.; Johnson, I.; Gilbert, R.; Slocombe, P.; Cook, E.; Richards, H.; Clissold, P.; Meredith, D.; Powell-Jones, C. H.; Dawson, K. M.; Carter, B. L.; McCullagh, K. G.: Chemical synthesis, cloning and expression in mammalian cells of a gene coding for human tissue-type plasminogen activator. Gene 63: 155-163, 1988.
[0014504]5092.Browne, M. J.; Tyrrell, A. W. R.; Chapman, C. G.; Carey, J. E.; Glover, D. M.; Grosveld, F. G.; Dodd, I.; Robinson, J. H.: Isolation of a human tissue-type plasminogen-activator genomic DNA clone and its expression in mouse L cells. Gene 33: 279-284, 1985.
[0014505]5093.Edlund, T.; Ny, T.; Ranby, M.; Heden, L.-O.; Palm, G.; Holmgren, E.; Josephson, S.: Isolation of cDNA sequences coding for a part of human tissue plasminogen activator. Proc. Nat. Acad. Sci. 80: 349-352, 1983.
[0014506]5094.Johansson, L.; Hedner, U.; Nilsson, I. M.: A family with thromboembolic disease associated with deficient fibrinolytic activity in vessel wall. Acta Med. Scand. 203: 477-480, 1978.
[0014507]5095.Jorgensen, M.; Mortensen, J. Z.; Madsen, A. G.; Thorsen, S.; Jacobsen, B.: A family with reduced plasminogen activator activity in blood associated with recurrent venous thrombosis. Scand. J. Haemat. 29: 217-223, 1982.
[0014508]5096.Kucherlapati, R.; Tepper, R.; Granelli-Piperno, A.; Reich, E. W. : Modulation and mapping of a human plasminogen activator by cell fusion. Cell 15: 1331-1340, 1978.
[0014509]5097.Loscalzo, J.; Braunwald, E.: Tissue plasminogen activator. New Eng. J. Med. 319: 925-931, 1988.
[0014510]5098.Ludwig, M.; Wohn, K.-D.; Schleuning, W.-D.; Olek, K.: Allelic dimorphism in the human tissue-type plasminogen activator (TPA) gene as a result of an Alu insertion/deletion event. Hum. Genet. 88: 388-392, 1992.
[0014511]5099.MacDonald, M. E.; van Zonneveld, A.-J.; Pannekoek, H.: Functional analysis of the human tissue-type plasminogen activator protein: the light chain. Gene 42: 59-67, 1986.
[0014512]5100.Ny, T.; Elgh, F.; Lund, B.: The structure of the human tissue-type plasminogen activator gene: correlation of intron and exon structures to functional and structural domains. Proc. Nat. Acad. Sci. 81: 5355-5359, 1984.
[0014513]5101.Pennica, D.; Holmes, W. E.; Kohr, W. J.; Harkins, R. N.; Vehar, G. A.; Ward, C. A.; Bennett, W. F.; Yelverton, E.; Seeburg, P. H.; Heyneker, H. L.; Goeddel, D. V.; Collen, D.: Cloning and expression of human tissue-type plasminogen activator cDNA in E. coli. Nature 301: 214-221, 1983.
[0014514]5102.Petaja, J.; Rasi, V.; Vahtera, E.; Myllyla, G.: Familial clustering of defective release of t-PA. Brit. J. Haemat. 79: 291-295, 1991.
[0014515]5103.Rajput, B.; Degen, S. F.; Reich, E.; Eddy, R. L.; Shows, T. B. : Mapping of tissue plasminogen activator (PLAT) to chromosome 8 and urokinase (PLAU) to chromosome 10 in humans. (Abstract) Cytogenet. Cell Genet. 40: 728-729, 1985.
[0014516]5104.Rajput, B.; Degen, S. F.; Reich, E.; Waller, E. K.; Axelrod, J.; Eddy, R. L.; Shows, T. B.: Chromosomal locations of human tissue plasminogen activator and urokinase genes. Science 230: 672-674, 1985.
[0014517]5105.Distante, S.; Nasioulas, S.; Somers, G. R.; Cameron, D. J. S.; Young, M. A.; Forrest, S. M.; Gardner, R. J. M.: Familial adenomatous polyposis in a 5 year old child: a clinical, pathological, and molecular genetic study. J. Med. Genet. 33: 157-160, 1996.
[0014518]5106.Duhamel, J.; Berthon, G.; Dubarry, J. J.: Etude mathematique de l'heredite de la polypose recto-colique. J. Genet. Hum. 9: 65-77, 1960.
[0014519]5107.Dunlop, M. G.; Wyllie, A. H.; Nakamura, Y.; Steel, C. M.; Evans, H. J.; White, R. L.; Bird, C. C.: Genetic linkage map of six polymorphic DNA markers around the gene for familial adenomatous polyposis on chromosome 5. Am. J. Hum. Genet. 47: 982-987, 1990.
[0014520]5108.Dunlop, M. G.; Wyllie, A. H.; Steel, C. M.; Piris, J.; Evans, H. J.: Linked DNA markers for presymptomatic diagnosis of familial adenomatous polyposis. Lancet 337: 313-316, 1991.
[0014521]5109.Eccles, D. M.; Lunt, P. W.; Wallis, Y.; Griffiths, M.; Sandhu, B.; McKay, S.; Morton, D.; Shea-Simonds, J.; Macdonald, F.: An unusually severe phenotype for familial adenomatous polyposis. Arch. Dis. Child. 77: 431-435, 1997.
[0014522]5110.Endo, A.; Kasukawa, T.: Gardner syndrome and interstitial chromosome deletion. (Letter) Am. J. Med. Genet. 28: 511-512, 1987.
[0014523]5111.Erbe, R. W.; Welch, W. R.: Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 47-1978. New Eng. J. Med. 299: 1237-1245, 1978.
[0014524]5112.Evans, D. G. R.; Guy, S. P.; Thakker, N.; Armstrong, J. G.; Dodd, C.; Davies, D. R.; Babbs, C.; Clancy, T.; Warnes, T.; Sloan, P.; Taylor, T. V.; Harris, R.: Non-penetrance and late appearance of polyps in families with familial adenomatous polyposis. Gut 34: 1389-1393, 1993.
[0014525]5113.Fader, M.; Kline, S. N.; Spatz, S. S.; Zubrow, H. J.: Gardner's syndrome (intestinal polyposis, osteomas, sebaceous cysts) and a new dental discovery. Oral Surg. 15: 153-172, 1962.
[0014526]5114.Fearnhead, N. S.; Britton, M. P.; Bodmer, W. F.: The ABC of APC. Hum. Molec. Genet. 10: 721-733, 2001.
[0014527]5115.Fialkow, P. J.: Clonal origin of human tumors. Ann. Rev. Med. 30: 135-143, 1979.
[0014528]5116.Fineman, R. M.; Morgan, M.; Burt, R. W.; Gardner, E. J.: Failure to demonstrate a chromosome 2 deletion in adenomatous colorectal polyposis patients. Cancer 53: 317-318, 1984.
[0014529]5117.Fodde, R.; Edelmann, W.; Yang, K.; van Leeuwen, C.; Carlson, C.; Renault, B.; Breukel, C.; Alt, E.; Lipkin, M.; Meera Khan, P.; Kucherlapati, R.: A targeted chain-termination mutation in the mouse Apc gene results in multiple intestinal tumors. Proc. Nat. Acad. Sci. 91: 8969-8973, 1994.
[0014530]5118.Fodde, R.; Kuipers, J.; Rosenberg, C.; Smits, R.; Kielman, M.; Gaspar, C.; van Es, J. H.; Breukel, C.; Wiegant, J.; Giles, R. H.; Clevers, H.: Mutations in the APC tumour suppressor gene cause chromosomal instability. Nature Cell Biol. 3: 433-438, 2001.
[0014531]5119.Fodde, R.; van der Luijt, R.; Wijnen, J.; Tops, C.; van der Klift, H.; van Leeuwen-Cornelisse, I.; Griffioen, G.; Vasen, H.; Meera Khan, P.: Eight novel inactivating germ line mutations at the APC gene identified by denaturing gradient gel electrophoresis. Genomics 13: 1162-1168, 1992.
[0014532]5120.Fraumeni, J. F., Jr.; Vogel, C. L.; Easton, J. M.: Sarcomas and multiple polyposis in a kindred. A genetic variety of hereditary polyposis? Arch. Intern. Med. 121: 57-61, 1968.
[0014533]5121.Frayling, I. M.; Beck, N. E.; Ilyas, M.; Dove-Edwin, I.; Goodman, P.; Pack, K.; Bell, J. A.; Williams, C. B.; Hodgson, S. V.; Thomas, H. J. W.; Talbot, I. C.; Bodmer, W. F.; Tomlinson, I. P. M.: The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history. Proc. Nat. Acad. Sci. 95: 10722-10727, 1998.
[0014534]5122.Friedl, W.; Meuschel, S.; Caspari, R.; Lamberti, C.; Krieger, S.; Sengteller, M.; Propping, P.: Attenuated familial adenomatous polyposis due to a mutation in the 3-prime part of the APC gene: a clue for understanding the function of the APC protein. Hum. Genet. 97: 579-584, 1996.
[0014535]5123.Garber, J. E.; Li, F. P.; Kingston, J. E.; Krush, A. J.; Strong, L. C.; Finegold, M. J.; Bertario, L.; Bulow, S.; Filippone, A., Jr.; Gedde-Dahl, T., Jr.; Jarvinen, H. J.: Hepatoblastoma and familial adenomatous polyposis. J. Nat. Cancer Inst. 80: 1626-1628, 1988.
[0014536]5124.Gardner, E. J.: A genetic and clinical study of intestinal polyposis, a predisposing factor for carcinoma of the colon and rectum. Am. J. Hum. Genet. 3: 167-176, 1951.
[0014537]5125.Gardner, E. J.: Discovery of the Gardner syndrome. Birth Defects Orig. Art. Ser. VIII(2): 48-51, 1972.
[0014538]5126.Gardner, E. J.: Follow-up study of a family group exhibiting dominant inheritance for a syndrome including intestinal polyps, osteomas, fibromas and epidermal cysts. Am. J. Hum. Genet. 14: 376-390, 1962.
[0014539]5127.Gardner, E. J.; Plenk, H. P.: Hereditary pattern for multiple osteomas in a family group. Am. J. Hum. Genet. 4: 31-36, 1952.
[0014540]5128.Gardner, E. J.; Rogers, S. W.; Woodward, S.: Numerical and structural chromosome aberrations in cultured lymphocytes and cutaneous fibroblasts of patients with multiple adenomas of the colorectum. Cancer 49: 1413-1419, 1982.
[0014541]5129.Gayther, S. A.; Wells, D.; SenGupta, S. B.; Chapman, P.; Neale, K.; Tsioupra, K.; Delhanty, J. D. A.: Regionally clustered APC mutations are associated with a severe phenotype and occur at a high frequency in new mutation cases of adenomatous polyposis coli. Hum. Mol. Genet. 3: 53-56, 1994.
[0014542]5130.Giardiello, F. M.; Brensinger, J. D.; Petersen, G. M.; Luce, M. C.; Hylind, L. M.; Bacon, J. A.; Booker, S. V.; Parker, R. D.; Hamilton, S. R.: The use and interpretation of commercial APC gene testing for familial adenomatous polyposis. New Eng. J. Med. 336: 823-827, 1997.
[0014543]5131.Giardiello, F. M.; Hamilton, S. R.; Krush, A. J.; Piantadosi, S.; Hylind, L. M.; Celano, P.; Booker, S. V.; Robinson, C. R.; Offerhaus, G. J. A.: Treatment of colonic and rectal adenomas with sulindac in familial adenomatous polyposis. New Eng. J. Med. 328: 1313-1316, 1993.
[0014544]5132.Giardiello, F. M.; Offerhaus, G. J. A.; Krush, A. J.; Booker, S. V.; Tersmette, A. C.; Mulder, J.-W. R.; Kelley, C. N.; Hamilton, S. R.: Risk of hepatoblastoma in familial adenomatous polyposis. J. Pediat. 119: 766-768, 1991.
[0014545]5133.Zuppan, P. J.; Hall, J. M.; Ponglikitmongkol, M.; Spielman, R.; King, M. C.: Polymorphisms at the estrogen receptor (ESR) locus and linkage relationships on chromosome 6q. (Abstract) Cytogenet. Cell Genet. 51: 1116 only, 1989.
[0014546]5134.Apte, S. S.; Mattei, M.-G.; Olsen, B. R.: Cloning of the cDNA encoding human tissue inhibitor of metalloproteinases-3 (TIMP-3) and mapping of the TIMP3 gene to chromosome 22. Genomics 19: 86-90, 1994.
[0014547]5135.Janssens, K.; Gershoni-Baruch, R.; Guanabens, N.; Migone, N.; Ralston, S.; Bonduelle, M.; Lissens, W.; Van Maldergem, L.; Vanhoenacker, F.; Verbruggen, L.; Van Hul, W.: Mutations in the gene encoding the latency-associated peptide of TGF-beta-1 cause Camurati-Engelmann disease. Nature Genet. 26: 273-275, 2000.
[0014548]5136.Lang, F.; Klingel, K.; Wagner, C. A.; Stegen, C.; Warntges, S.; Friedrich, B.; Lanzendorfer, M.; Melzig, J.; Moschen, I.; Steuer, S.; Waldegger, S.; Sauter, M.; and 9 others: Deranged transcriptional regulation of cell-volume-sensitive kinase hSGK in diabetic nephropathy. Proc. Nat. Acad. Sci. 97: 8157-8162, 2000.
[0014549]5137.Li, B.; Khanna, A.; Sharma, V.; Singh, T.; Suthanthiran, M.; August, P.: TGF-beta-1 DNA polymorphisms, protein levels, and blood pressure. Hypertension 33: 271-275, 1999.
[0014550]5138.Marquardt, H.; Lioubin, M. N.; Ikeda, T.: Complete amino acid sequence of human transforming growth factor type beta-2. J. Biol. Chem. 262: 12127-12131, 1987.
[0014551]5139.Reeves, W. B.; Andreoli, T. E.: Transforming growth factor beta contributes to progressive diabetic nephropathy. Proc. Nat. Acad. Sci. 97: 7667-7669, 2000.
[0014552]5140.Roberts, A. B.; Sporn, M. B.; Assoian, R. K.; Smith, J. M.; Roche, N. S.; Wakefield, L. M.; Heine, U. I.; Liotta, L. A.; Falanga, V.; Kehrl, J. H.; Fauci, A. S.: Transforming growth factor type beta: rapid induction of fibrosis and angiogenesis in vivo and stimulation of collagen formation in vitro. Proc. Nat. Acad. Sci. 83: 4167-4171, 1986.
[0014553]5141.Sharma, K.; Jin, Y.; Guo, J.; Ziyadeh, F. N. :Diabetes 45: 522-530, 1996.
[0014554]5142.Shenkar, R.; Coulson, W. F.; Abraham, E.: Hemorrhage and resuscitation induce alterations in cytokine expression and the development of acute lung injury. Am. J. Resp. Cell. Mol. Biol. 10: 290-297, 1994.
[0014555]5143.Sporn, M. B.; Roberts, A. B.; Wakefield, L. M.; Assoian, R. K. : Transforming growth factor-beta: biological function and chemical structure. Science 233: 532-534, 1986.
[0014556]5144.Suthanthiran, M.; Khanna, A.; Cukran, D.; Adhikarla, R.; Sharma, V. K.; Singh, T.; August, P.: Transforming growth factor-beta-1 hyperexpression in African American end-stage renal disease patients. Kidney Int. 53: 639-644, 1998.
[0014557]5145.Suthanthiran, M.; Li, B.; Song, J. O.; Ding, R.; Sharma, V. K.; Schwartz, J. E.; August, P.: Transforming growth factor-beta-1 hyperexpression in African-American hypertensives: a novel mediator of hypertension and/or target organ damage. Proc. Nat. Acad. Sci. 97: 3479-3484, 2000.
[0014558]5146.Waldegger, S.; Klingel, K.; Barth, P.; Sauter, M.; Lanzendorfer, M.; Kandolf, R.; Lang, F.: h-sgk serine-threonine protein kinase gene as transcriptional target of transforming growth factor beta in human intestine. Gastroenterology 116: 1081-1088, 1999.
[0014559]5147.Watanabe, Y.; Kinoshita, A.; Yamada, T.; Ohta, T.; Kishino, T.; Matsumoto, N.; Ishikawa, M.; Niikawa, N.; Yoshiura, K.-I.: A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-beta-1 (TGF-beta-1) and its signaling pathway. J. Hum. Genet. 47: 478-483, 2002.
[0014560]5148.Wyss-Coray, T.; Lin, C.; Yan, F.; Yu, G.; Rohde, M.; McConlogue, L.; Masliah, E.; Mucke, L.: TGF-beta-1 promotes microglial amyloid-beta clearance and reduces plaque burden in transgenic mice. Nature Med. 7: 612-618, 2001.
[0014561]5149.Ziyadeh, F. N.; Hoffman, B. B.; Han, D. C.; Iglesias-de la Cruz, M. C.; Hong, S. W.; Isono, M.; Chen, S.; McGowan, T. A.; Sharma, K. : Long-term prevention of renal insufficiency, excess matrix gene expression, and glomerular mesangial matrix expansion by treatment with monoclonal antitransforming growth factor-beta antibody in db/db diabetic mice. Proc. Nat. Acad. Sci. 97: 8015-8020, 2000.
[0014562]5150.Inman, G. J.; Nicolas, F. J.; Hill, C. S.: Nucleocytoplasmic shuttling of Smads 2, 3, and 4 permits sensing of TGF-beta receptor activity. Molec. Cell 10: 283-294, 2002.
[0014563]5151.Johnson, D. W.; Qumsiyeh, M.; Benkhalifa, M.; Marchuk, D. A.: Assignment of human transforming growth factor-beta type I and type III receptor genes (TGFBR1 and TGFBR3) to 9q33-q34 and 1p32-p33, respectively. Genomics 28: 356-357, 1995.
[0014564]5152.Dallapiccola, B.; Novelli, G.; Giannotti, A.: Deletion 2q31.3-2q33.3: gene dosage effect of ribulose 5-phosphate 3-epimerase. Hum. Genet. 79: 92 only, 1988.
[0014565]5153.Donald, L. J.; Wang, H. S.; Hamerton, J. L.: Assignment of the gene for ribulose-5-phosphate 3-epimerase (RPE) to human chromosome 2. (Abstract) Cytogenet. Cell Genet. 32: 268 only, 1982.
[0014566]5154.Donald, L. J.; Wang, H. S.; Hamerton, J. L.: A ribulose-5-phosphate-3-epimerase (RPE) locus is on human chromosome 2. Cytogenet. Cell Genet. 33: 261-263, 1982.
[0014567]5155.Gross, M.-S.; Weil, D.; Van Cong, N.; Finaz, C.; Foubert, C.; Cochet, C.; Parisi, I.; de Grouchy, J.; Frezal, J.: Localisation du gene de la ribulose-5-phosphate-3-epimerase (RPE) sur le segment 2q32-2qter par hybridation cellulaire interspecifique. Ann. Genet. 25: 87-91, 1982.
[0014568]5156.Miyazaki, K.; Yamanaka, T.; Ogasawara, N.: Interstitial deletion 2q32.1-q34 in a child with half normal activity of ribulose 5-phosphate 3-epimerase (RPE). J. Med. Genet. 25: 850-851, 1988.
[0014569]5157.Helfgott, S. M.; Mosciscki, R. A.; San Martin, J.; Lorenzo, C.; Kieval, R.; McKenna, M.; Nadol, J.; Trentham, D. E.: Correlation between antibodies to type II collagen and treatment outcome in bilateral progressive sensorineural hearing loss. Lancet 337: 387-389, 1991.
[0014570]5158.Lee, B.; Vissing, H.; Ramirez, F.; Rogers, D.; Rimoin, D.: Identification of the molecular defect in a family with spondyloepiphyseal dysplasia. Science 244: 978-980, 1989.
[0014571]5159.Tiller, G. E.; Rimoin, D. L.; Murray, L. W.; Cohn, D. H.: Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia. Proc. Nat. Acad. Sci. 87: 3889-3893, 1990.
[0014572]5160.Yoo, T. J.; Tomoda, K.; Stuart, J. M.; Cremer, M. A.; Townes, A. S.; Kang, A. H.: Type II collagen-induced autoimmune sensorineural hearing loss and vestibular dysfunction in rats. Ann. Otol. Rhinol. Laryng. 92: 267-271, 1983.
[0014573]5161.Begley, C. G.; Visvader, J.; Green, A. R.; Aplan, P. D.; Metcalf, D.; Kirsch, I. R.; Gough, N. M.: Molecular cloning and chromosomal localization of the murine homolog of the human helix-loop-helix gene SCL. Proc. Nat. Acad. Sci. 88: 869-873, 1991.
[0014574]5162.Finger, L. R.; Kagan, J.; Christopher, G.; Kurtzberg, J.; Hershfield, M. S.; Nowell, P. C.; Croce, C. M.: Involvement of the TCL5 gene on human chromosome 1 in T-cell leukemia and melanoma. Proc. Nat. Acad. Sci. 86: 5039-5043, 1989.
[0014575]5163.Gottgens, B.; Barton, L. M.; Chapman, M. A.; Sinclair, A. M.; Knudsen, B.; Grafham, D.; Gilbert, J. G. R.; Rogers, J.; Bentley, D. R.; Green, A. R.: Transcriptional regulation of the stem cell leukemia gene (SCL)--comparative analysis of five vertebrate SCL loci. Genome Res. 12: 749-759, 2002.
[0014576]5164.Gottgens, B.; Gilbert, J. G.; Barton, L. M.; Grafham, D.; Rogers, J.; Bentley, D. R.; Green, A. R.: Long-range comparison of human and mouse SCL loci: localized regions of sensitivity to restriction endonucleases correspond precisely with peaks of conserved noncoding sequences. Genome Res. 11: 87-97, 2001.
[0014577]5165.Kocher, O.; Cheresh, P.; Lee, S. W.: Identification and partial characterization of a novel membrane-associated protein (MAP17) up-regulated in human carcinomas and modulating cell replication and tumor growth. Am. J. Path. 149: 493-500, 1996.
[0014578]5166.Kozak, M.: An analysis of 5-prime-noncoding sequences from 699 vertebrate messenger RNAs. Nucleic Acids Res. 15: 8125-8148, 1987.
[0014579]5167.Kurtzberg, J.; Bigner, S. H.; Hershfield, M. S.: Establishment of the DU.528 human lymphohemopoietic stem cell line. J. Exp. Med. 162: 1561-1578, 1985.
[0014580]5168.Robb, L.; Lyons, I.; Li, R.; Hartley, L.; Kontgen, F.; Harvey, R. P.; Metcalf, D.; Begley, C. G.: Absence of yolk sac hematopoiesis from mice with a targeted disruption of the scl gene. Proc. Nat. Acad. Sci. 92: 7075-7079, 1995.
[0014581]5169.Shivdasani, R. A.; Mayer, E. L.; Orkin, S. H.: Absence of blood formation in mice lacking the T-cell leukaemia oncoprotein tal-1/SCL. Nature 373: 432-434, 1995.
[0014582]5170.Sinclair, A. M.; Bench, A. J.; Bloor, A. J. C.; Li, J.; Gottgens, B.; Stanley, M. L.; Miller, J.; Piltz, S.; Hunter, S.; Nacheva, E. P.; Sanchez, M.-J.; Green, A. R.: Rescue of the lethal scl-/-phenotype by the human SCL locus. Blood 99: 3931-3938, 2002.
[0014583]5171.Williams, M.; Lyu, M. S.; Yang, Y. L.; Lin, E. P.; Dunbrack, R.; Birren, B.; Cunningham, J.; Hunter, K.: Ier5, a novel member of the slow-kinetics immediate-early genes. Genomics 44: 327-334, 1999.
[0014584]5172.Xia, Y.; Brown, L.; Yang, C. Y.-C.; Tsou Tsan, J.; Siciliano, M. J.; Espinosa, R., III; Le Beau, M. M.; Baer, R. J.: TAL2, a helix-loop-helix gene activated by the (7;9)(q34;q32) translocation in human T-cell leukemia. Proc. Nat. Acad. Sci. 88: 11416-11420, 1991.
[0014585]5173.Artandi, S. E.; Chang, S.; Lee, S.-L.; Alson, S.; Gottlieb, G. J.; Chin, L.; DePinho, R. A.: Telomere dysfunction promotes non-reciprocal translocations and epithelial cancers in mice. Nature 406: 641-645, 2000.
[0014586]5174.Carrero-Valenzuela, R. D.; Klein, M. L.; Weleber, R. G.; Murphey, W. H.; Litt, M.: Sorsby fundus dystrophy: a family with the ser181cys mutation of the tissue inhibitor of metalloproteinases 3. Arch. Ophthal. 114: 737-738, 1996.
[0014587]5175.Felbor, U.; Stohr, H.; Amann, T.; Schonherr, U.; Weber, B. H. F. : A novel ser156cys mutation in the tissue inhibitor of metalloproteinase-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features. Hum. Molec. Genet. 4: 2415-2416, 1995.
[0014588]5176.Langton, K. P.; Barker, M. D.; McKie, N.: Localization of the functional domains of human tissue inhibitor of metalloproteinases-3 and the effects of a Sorsby's fundus dystrophy mutation. J. Biol. Chem. 273: 16778-16781, 1998.
[0014589]5177.Langton, K. P.; McKie, N.; Curtis, A.; Goodship, J. A.; Bond, P. M.; Barker, M. D.; Clarke, M.: A novel tissue inhibitor of metalloproteinases-3 mutation reveals a common molecular phenotype in Sorsby's fundus dystrophy. J. Biol. Chem. 275: 27027-27031, 2000.
[0014590]5178.Osman, M.; Tortorella, M.; Londei, M.; Quaratino, S.: Expression of matrix metalloproteinases and tissue inhibitors of metalloproteinases define the migratory characteristics of human monocyte-derived dendritic cells. Immunology 105: 73-82, 2002.
[0014591]5179.Stohr, H.; Roomp, K.; Felbor, U.; Weber, B. H. F.: Genomic organization of the human tissue inhibitor of metalloproteinases-3 (TIMP3). Genome Res. 5: 483-487, 1995.
[0014592]5180.Wijesuriya, S. D.; Evans, K.; Jay, M. R.; Davison, C.; Weber, B. H. F.; Bird, A. C.; Bhattacharya, S. S.; Gregory, C. Y.: Sorsby's fundus dystrophy in the British Isles: demonstration of a striking founder effect by microsatellite-generated haplotypes. Genome Res. 6: 92-101, 1996.
[0014593]5181.Wilde, C. G.; Hawkins, P. R.; Coleman, R. T.; Levine, W. B.; Delegeane, A. M.; Okamoto, P. M.; Ito, L. Y.; Scott, R. W.; Seilhamer, J. J. : Cloning and characterization of human tissue inhibitor of metalloproteinases-3. DNA Cell Biol. 13: 711-718, 1994.
[0014594]5182.Durick, K.; Gill, G. N.; Taylor, S. S.: Shc and Enigma are both required for mitogenic signaling by Ret/ptc2. Molec. Cell. Biol. 18: 2298-2308, 1998.
[0014595]5183.Saadat, M.; Nomoto, K.; Mizuno, Y.; Kikuchi, K.; Yoshida, M. C. : Assignment of the gene encoding type 1-gamma protein phosphatase catalytic subunit (PPP1CC) on human, rat, and mouse chromosomes. Jpn. J. Hum. Genet. 41: 159-165, 1996.
[0014596]5184.Cohen, P.; Cohen, P. T. W.: Protein phosphatases come of age. J. Biol. Chem. 264: 21435-21438, 1989.
[0014597]5185.Groves, M. R.; Hanlon, N.; Turowski, P.; Hemmings, B. A.; Barford, D.: The structure of the protein phosphatase 2A PR65/A subunit reveals the conformation of its 15 tandemly repeated HEAT motifs. Cell 96: 99-110, 1999.
[0014598]5186.Jones, T. A.; Barker, H. M.; da Cruz e Silva, E. F.; Mayer-Jaekel, R. E.; Hemmings, B. A.; Spurr, N. K.; Sheer, D.; Cohen, P. T. W.: Localization of the genes encoding the catalytic subunits of protein phosphatase 2A to human chromosome bands 5q23-q31 and 8p12-p11.2, respectively. Cytogenet. Cell Genet. 63: 35-41, 1993.
[0014599]5187.Stone, S. R.; Mayer, R.; Wernet, W.; Maurer, F.; Hofsteenge, J.; Hemmings, B. A.: The nucleotide sequence of the cDNA encoding the human lung protein phosphatase 2A alpha catalytic subunit. Nucleic Acids Res. 16: 11365 only, 1988.
[0014600]5188.Imbert, A.; Chaffanet, M.; Essioux, L.; Noguchi, T.; Adelaide, J.; Kerangueven, F.; Le Paslier, D.; Bonaiti-Pellie, C.; Sobol, H.; Birnbaum, D.; Pebusque, M.-J.: Integrated map of the chromosome 8p12-p21 region, a region involved in human cancers and Werner syndrome. Genomics 32: 29-38, 1996.
[0014601]5189.Lu, S.; Day, N. E.; Degos, L.; Lepage, V.; Wang, P.-C.; Chan, S.-H.; Simons, M.; McKnight, B.; Easton, D.; Zeng, Y.; de-The, G.: Linkage of a nasopharyngeal carcinoma susceptibility locus to the HLA region. Nature 346: 470-471, 1990.
[0014602]5190.Adamkiewicz, T. V.; McSherry, C.; Bach, F. H.; Houchins, J. P. : Natural killer lectinlike receptors have divergent carboxy-termini, distinct from C-type lectins. Immunogenetics 39: 218 only, 1994.
[0014603]5191.Houchins, J. P.; Yabe, T.; McSherry, C.; Bach, F. H.: DNA sequence analysis of NKG2, a family of related cDNA clones encoding type II integral membrane proteins on human natural killer cells. J. Exp. Med. 173: 1017-1020, 1991.
[0014604]5192.Plougastel, B.; Jones, T.; Trowsdale, J.: Genomic structure, chromosome location, and alternative splicing of the human NKG2A gene. Immunogenetics 44: 286-291, 1996.
[0014605]5193.Plougastel, B.; Trowsdale, J.: Sequence analysis of a 62-kb region overlapping the human KLRC cluster of genes. Genomics 49: 193-199, 1998.
[0014606]5194.Renedo, M.; Arce, I.; Rodriguez, A.; Carretero, M.; Lanier, L. L.; Lopez-Botet, M.; Fernandez-Ruiz, E.: The human natural killer gene complex is located on chromosome 12p12-p13. Immunogenetics 46: 307-311, 1997.
[0014607]5195.Yabe, T.; McSherry, C.; Bach, F. H.; Fisch, P.; Schall, R. P.; Sondel, P. M.; Houchins, J. P.: A multigene family on human chromosome 12 encodes natural killer-cell lectins. Immunogenetics 37: 455-460, 1993.
[0014608]5196.Allamand, V.; Sunada, Y.; Salih, M. A. M.; Straub, V.; Ozo, C. O.; Al-Turaiki, M. H. S.; Akbar, M.; Kolo, T.; Colognato, H.; Zhang, X.; Sorokin, L. M.; Yurchenco, P. D.; Tryggvason, K.; Campbell, K. P.: Mild congenital muscular dystrophy in two patients with an internally deleted laminin alpha-2-chain. Hum. Molec. Genet. 6: 747-752, 1997.
[0014609]5197.Bushby, K.; Anderson, L. V. B.; Pollitt, C.; Naom, I.; Muntoni, F.; Bindoff, L.: Abnormal merosin in adults: a new form of late onset muscular dystrophy not linked to chromosome 6q2. Brain 121: 581-588, 1998.
[0014610]5198.D'Alessandro, M.; Naom, I.; Ferlini, A.; Sewry, C.; Dubowitz, V.; Muntoni, F.: Is there selection in favour of heterozygotes in families with merosin-deficient congenital muscular dystrophy? Hum. Genet. 105: 308-313, 1999.
[0014611]5199.Ehrig, K.; Leivo, I.; Argraves, W. S.; Ruoslahti, E.; Engvall, E.: Merosin, a tissuespecific basement membrane protein, is a laminin-like protein. Proc. Nat. Acad. Sci. 87: 3264-3268, 1990.
[0014612]5200.Hayashi, Y. K.; Koga, R.; Tsukahara, T.; Ishii, H.; Matsuishi, T.; Yamashita, Y.; Nonaka, I.; Arahata, K.: Deficiency of laminin alpha-2-chain mRNA in muscle in a patient with merosinnegative congenital muscular dystrophy. Muscle Nerve 18: 1027-1030, 1995.
[0014613]5201.Helbling-Leclerc, A.; Zhang, X.; Topaloglu, H.; Cruaud, C.; Tesson, F.; Weissenbach, J.; Tome, F. M. S.; Schwartz, K.; Fardeau, M.; Tryggvason, K.; Guicheney, P.: Mutations in the laminin alpha-2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nature Genet. 11: 216-218, 1995.
[0014614]5202.Hillaire, D.; Leclerc, A.; Faure, S.; Topaloglu, H.; Chiannilkulchai, N.; Guicheney, P.; Grinas, L.; Legos, P.; Philpot, J.; Evangelista, T.; Routon, M.-C.; Mayer, M.; Pellissier, J.-F.; Estournet, B.; Barois, A.; Hentati, F.; Feingold, N.; Beckmann, J. S.; Dubowitz, V.; Tome, F. M. S.; Fardeau, M.: Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping. Hum. Molec. Genet. 3: 1657-1661, 1994.
[0014615]5203.Jones, K. J.; Morgan, G.; Johnston, H.; Tobias, V.; Ouvrier, R. A.; Wilkinson, I.; North, K. N.: The expanding phenotype of laminin alpha-2 chain (merosin) abnormalities: case series and review. J. Med. Genet. 38: 649-657, 2001.
[0014616]5204.Kuang, W.; Xu, H.; Vachon, P. H.; Liu, L.; Loechel, F.; Wewer, U. M.; Engvall, E.: Merosin-deficient congenital muscular dystrophy: partial genetic correction in two mouse models. J. Clin. Invest. 102: 844-852, 1998.
[0014617]5205.Mercuri, E.; Dubowitz, L.; Berardinelli, A.; Pennock, J.; Jongmans, M.; Henderson, S.; Muntoni, F.; Sewry, C.; Philpot, J.; Dubowitz, V.: Minor neurological and perceptuo-motor deficits in children with congenital muscular dystrophy: correlation with brain MRI changes. Neuropediatrics 26: 156-162, 1995.
[0014618]5206.Mercuri, E.; Muntoni, F.; Berardinelli, A.; Pennock, J.; Sewry, C.; Philpot, J.; Dubowitz, V.: Somatosensory and visual evoked potentials in congenital muscular dystrophy: correlation with MRI changes and muscle merosin status. Neuropediatrics 26: 3-7, 1995.
[0014619]5207.Moll, J.; Barzaghi, P.; Lin, S.; Bezakova, G.; Lochmuller, H.; Engvall, E.; Muller, U.; Ruegg, M. A.: An agrin minigene rescues dystrophic symptoms in a mouse model for congenital muscular dystrophy. Nature 413: 302-307, 2001.
[0014620]5208.Naom, I.; D'Alessandro, M.; Sewry, C.; Ferlini, A.; Topaloglu, H.; Helbling-Leclerc, A.; Guicheney, P.; Schwartz, K.; Akcoren, Z.; Dubowitz, V.; Muntoni, F.: The role of immunocytochemistry and linkage analysis in the prenatal diagnosis of merosin-deficient congenital muscular dystrophy. Hum. Genet. 99: 535-540, 1997.
[0014621]5209.Ng, V.; Zanazzi, G.; Timpl, R.; Talts, J. F.; Salzer, J. L.; Brennan, P. J.; Rambukkana, A.: Role of the cell wall phenolic glycolipid-1 in the peripheral nerve predilection of Mycobacterium leprae. Cell 103: 511-524, 2000.
[0014622]5210.Philpot, J.; Cowan, F.; Pennock, J.; Sewry, C.; Dubowitz, V.; Bydder, G.; Muntoni, F.: Merosin-deficient congenital muscular dystrophy: the spectrum of brain involvement on magnetic resonance imaging. Neuromusc. Disord. 9: 81-85, 1999.
[0014623]5211.Sallinen, R.; Kuang, W.; Engvall, E.; Palotie, A.; Wessman, M.; Horelli-Kuitunen, N.: Assignment of laminin alpha 2-chain gene (Lama2) to mouse chromosome 10A4-B1 by fluorescence in situ hybridization. Cytogenet. Cell Genet. 87: 195-196, 1999.
[0014624]5212.Shorer, Z.; Philpot, J.; Muntoni, F.; Sewry, C.; Dubowitz, V. : Demyelinating peripheral neuropathy in merosin-deficient congenital muscular dystrophy. J. Child Neurol. 10: 472-475, 1995.
[0014625]5213.Sunada, Y.; Bernier, S. M.; Kozak, C. A.; Yamada, Y.; Campbell, K. P.: Deficiency of merosin in dystrophic dy mice and genetic linkage of laminin M chain gene to dy locus. J. Biol. Chem. 269: 13729-13732, 1994.
[0014626]5214.Sunada, Y.; Edgar, T. S.; Lotz, B. P.; Rust, R. S.; Campbell, K. P.: Merosin-negative congenital muscular dystrophy associated with extensive brain abnormalities. Neurology 45: 2084-2089, 1995.
[0014627]5215.Taratuto, A. L.; Lubieniecki, F.; Diaz, D.; Schultz, M.; Ruggieri, V.; Saccoliti, M.; Dubrovsky, A.: Merosin-deficient congenital muscular dystrophy associated with abnormal cerebral cortical gyration: an autopsy study. Neuromusc. Disord. 9: 86-94, 1999.
[0014628]5216.Tome, F. M. S.; Evangelista, T.; Leclerc, A.; Sunada, Y.; Manole, E.; Estournet, B.; Barois, A.; Campbell, K. P.; Fardeau, M.: Congenital muscular dystrophy with merosin deficiency. Comp. Rend. Acad. Sci. (Paris) 317: 351-357, 1994.
[0014629]5217.Vuolteenaho, R.; Nissinen, M.; Sainio, K.; Byers, M.; Eddy, R.; Hirvonen, H.; Shows, T. B.; Sariola, H.; Engvall, E.; Tryggvason, K.: Human laminin M chain (merosin): complete primary structure, chromosomal assignment, and expression of the M and A chain in human fetal tissues. J. Cell Biol. 124: 381-394, 1994.
[0014630]5218.Lindner, T. H.; Njolstad, P. R.; Horikawa, Y.; Bostad, L.; Bell, G. I.; Sovik, O.: A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1-beta. Hum. Molec. Genet. 8: 2001-2008, 1999.
[0014631]5219.Anderson, L. A.; Hall, J. M.; Lee, M. K.; Lebo, R. V.; King, M. C.: Polymorphisms near chromosome 1cen. (Abstract) Cytogenet. Cell Genet. 51: 951, 1989.
[0014632]5220.Gendler, S. J.; Lancaster, C. A.; Taylor-Papadimitriou, J.; Duhig, T.; Peat, N.; Burchell, J.; Pemberton, L.; Lalani, E.-N.; Wilson, D.: Molecular cloning and expression of human tumorassociated polymorphic epithelial mucin. J. Biol. Chem. 265: 15286-15293, 1990.
[0014633]5221.Karlsson, S.; Swallow, D. M.; Griffiths, B.; Corney, G.; Hopkinson, D. A.; Dawnay, A.; Cartron, J. P.: A genetic polymorphism of a human urinary mucin. Ann. Hum. Genet. 47: 263-269, 1983.
[0014634]5222.Kingsmore, S. F.; Spicer, A. P.; Gendler, S. J.; Seldin, M. F. : Genetic mapping of the tumor-associated mucin 1 gene on mouse chromosome 3. Mammalian Genome 6: 378, 1995.
[0014635]5223.Lan, M. S.; Batra, S. K.; Qi, W.-N.; Metzgar, R. S.; Hollingsworth, M. A.: Cloning and sequencing of a human pancreatic tumor mucin cDNA. J. Biol. Chem. 265: 15294-15299, 1990.
[0014636]5224.Ligtenberg, M. J.; Gennissen, A. M.; Vos, H. L.; Hilkens, J.: A single nucleotide polymorphism in an exon dictates allele dependent differential splicing of episialin mRNA. Nucleic Acids Res. 19: 297-301, 1991.
[0014637]5225.Ligtenberg, M. J. L.; Vos, H. L.; Gennissen, A. M. C.; Hilkens, J.: Episialin, a carcinoma-associated mucin, is generated by a polymorphic gene encoding splice variants with alternative amino termini. J. Biol. Chem. 265: 5573-5578, 1990.
[0014638]5226.Middleton-Price, H.; Gendler, S.; Malcolm, S.: Close linkage of PUM and SPTA within chromosome band 1q21. Ann. Hum. Genet. 52: 273-278, 1988.
[0014639]5227.Pratt, W. S.; Islam, I.; Swallow, D. M.: Two additional polymorphisms within the hypervariable MUC1 gene: association of alleles either side of the VNTR region. Ann. Hum. Genet. 60: 21-28, 1996.
[0014640]5228.Silva, F.; Carvalho, F.; Peixoto, A.; Seixas, M.; Almeida, R.; Carneiro, F.; Mequita, P.; Figueiredo, C.; Nogueira, C.; Swallow, D. M.; Amorim, A.; David, L.: MUC1 gene polymorphism in the gastric carcinogenesis pathway. Europ. J. Hum. Genet. 9: 548-552, 2001.
[0014641]5229.Swallow, D. M.; Gendler, S.; Griffiths, B.; Corney, G.; Taylor-Papadimitriou , J.; Bramwell, M. E.: The human tumour-associated epithelial mucins are coded by an expressed hypervariable gene locus PUM. Nature 328: 82-84, 1987.
[0014642]5230.Swallow, D. M.; Gendler, S.; Griffiths, B.; Kearney, A.; Povey, S.; Sheer, D.; Palmer, R. W.; Taylor-Papadimitriou, J.: The hypervariable gene locus PUM, which codes for the tumour associated epithelial mucins, is located on chromosome 1, within the region 1q21-24. (Abstract) Cytogenet. Cell Genet. 46: 701, 1987.
[0014643]5231.Swallow, D. M.; Gendler, S.; Griffiths, B.; Kearney, A.; Povey, S.; Sheer, D.; Palmer, R. W.; Taylor-Papadimitriou, J.: The hypervariable gene locus PUM, which codes for the tumour associated epithelial mucins, is located on chromosome 1, within the region 1q21-q24. Ann. Hum. Genet. 51: 289-294, 1987.
[0014644]5232.Swallow, D. M.; Griffiths, B.; Noades, J.; Corney, G.: Linkage between the expressed hypervariable gene locus PUM and the gene coding for the Duffy blood group FY. Ann. Hum. Genet. 52: 269-271, 1988.
[0014645]5233.Cole, S. P. C.; Bhardwaj, G.; Gerlach, J. H.; Mackie, J. E.; Grant, C. E.; Almquist, K. C.; Stewart, A. J.; Kurz, E. U.; Duncan, A. M. V.; Deeley, R. G.: Overexpression of a transporter gene in a multidrug-resistant human lung cancer cell line. Science 258: 1650-1654, 1992.
[0014646]5234.Conrad, S.; Kauffmann, H.-M.; Ito, K.; Deeley, R. G.; Cole, S. P. C.; Schrenk, D.: Identification of human multidrug resistance protein 1 (MRP1) mutations and characterization of a G671V substitution. J. Hum. Genet. 46: 656-663, 2001.
[0014647]5235.Grant, C. E.; Kurz, E. U.; Cole, S. P. C.; Deeley, R. G.: Analysis of the intron-exon organization of the human multidrug-resistance protein gene (MRP) and alternative splicing of its mRNA. Genomics 45: 368-378, 1997.
[0014648]5236.Lorico, A.; Bertola, A.; Baum, C.; Fodstad, O.; Rappa, G.: Role of multidrug resistance protein 1 in protection from heavy metal oxyanions: investigations in vitro and in Mrp1-deficient mice. Biochem. Biophys. Res. Commun. 291: 617-622, 2002.
[0014649]5237.Robbiani, D. F.; Finch, R. A.; Jager, D.; Muller, W. A.; Sartorelli, A. C.; Randolph, G. J.: The leukotriene C4 transporter MRP1 regulates CCL19 (MIP-3-beta, ELC)-dependent mobilization of dendritic cells to lymph nodes. Cell 103: 757-768, 2000.
[0014650]5238.Schultz, M. J.; Wijnholds, J.; Peppelenbosch, M. P.; Vervoordeldonk, M. J. B. M.; Speelman, P.; van Deventer, S. J. H.; Borst, P.; van der Poll, T.: Mice lacking the multidrug resistance protein 1 are resistant to Streptococcus pneumoniae-induced pneumonia. J. Immun. 166: 4059-4064, 2001.
[0014651]5239.Zaman, G. J. R.; Flens, M. J.; van Leusden, M. R.; de Haas, M.; Mulder, H. S.; Lankelma, J.; Pinedo, H. M.; Scheper, R. J.; Baas, F.; Broxterman, H. J.; Borst, P.: The human multidrug resistance-associated protein MRP is a plasma membrane drug-efflux pump. Proc. Nat. Acad. Sci. 91: 8822-8826, 1994.
[0014652]5240.le Gallic, L.; Fort, P.: Structure of the human ARHG locus encoding the Rho/Rac-like RhoG GTPase. Genomics 42: 157-160, 1997.
[0014653]5241.Taviaux, S. A.; Vincent, S.; Fort, P.; Demaille, J. G.: Localization of ARHG, a member of the RAS homolog gene family, to 11p15.5-11p15.4 by fluorescence in situ hybridization. Genomics 16: 788-790, 1993.
[0014654]5242.Vincent, S.; Jeanteur, P.; Fort, P.: Growth-regulated expression of rhoG, a new member of the ras homolog gene family. Molec. Cell. Biol. 12: 3138-3148, 1992.
[0014655]5243.Allan, B. B.; Moyer, B. D.; Balch, W. E.: Rab1 recruitment of p115 into a cis-SNARE complex: programming budding COPII vesicles for fusion. Science 289: 444-448, 2000.
[0014656]5244.Wedemeyer, N.; Lengeling, A.; Ronsiek, M.; Korthaus, D.; Baer, K.; Wuttke, M.; Jockusch, H.: YAC contigs of the Rab1 and wobbler (wr) spinal muscular atrophy gene region on proximal mouse chromosome 11 and of the homologous region on human chromosome 2p. Genomics 32: 447-454, 1996.
[0014657]5245.Rousseau-Merck, M. F.; Zahraoui, A.; Touchot, N.; Tavitian, A.; Berger, R.: Chromosome assignment of four RAS-related RAB genes. Hum. Genet. 86: 350-354, 1991.
[0014658]5246.Rousseau-Merck, M.-F.; Zahraoui, A.; Touchot, N.; Tavitian, A.; Berger, R.: Chromosome assignment of four RAS-related RAB genes. Hum. Genet. 86: 350-354, 1991.
[0014659]5247.Bucci, C.; Parton, R. G.; Mather, I. H.; Stunnenberg, H.; Simons, K.; Hoflack, B.; Zerial, M.: The small GTPase rab5 functions as a regulatory factor in the early endocytic pathway. Cell 70: 715-728, 1992.
[0014660]5248.Stenmark, H.; Vitale, G.; Ullrich, O.; Zerial, M.: Rabaptin-5 is a direct effector of the small GTPase Rab5 in endocytic membrane fusion. Cell 83: 423-432, 1995.
[0014661]5249.Xiao, G.-H.; Shoarinejad, F.; Jin, F.; Golemis, E. A.; Yeung, R. S.: The tuberous sclerosis 2 gene product, tuberin, functions as a Rab5 GTPase activating protein (GAP) in modulating endocytosis. J. Biol. Chem. 272: 6097-6100, 1997.
[0014662]5250.Aita, N.; Ishii, K.; Akamatsu, Y.; Ogasawara, Y.; Tanabe, S.: Cloning and expression of human liver rhodanese cDNA. Biochem. Biophys. Res. Commun. 231: 56-60, 1997.
[0014663]5251.Cagianut, B.; Rhyner, K.; Furrer, W.; Schnebli, H. P.: Thiosulphate-sulphur transferase (rhodanese) deficiency in Leber's hereditary optic atrophy. (Letter) Lancet II: 981-982, 1981.
[0014664]5252.Nikoskelainen, E.: New aspects of the genetic, etiologic, and clinical puzzle of Leber's disease. Neurology 34: 1482-1484, 1984.
[0014665]5253.Scott, E. M.; Wright, R. C.: Genetic polymorphism of rhodanese from human erythrocytes. Am. J. Hum. Genet. 32: 112-114, 1980.
[0014666]5254.Weng, L.; Heinrikson, R. L.; Westley, J.: Active site cysteinyl and arginyl residues of rhodanese. J. Biol. Chem. 253: 8109-8119, 1978.
[0014667]5255.Whitehouse, D. B.; Pilz, A. J.; Porta, G.; Hopkinson, D. A.: Rhodanese isozymes in human tissues. Ann. Hum. Genet. 52: 1-10, 1988.
[0014668]5256.Whitehouse, D. B.; Poole, C. J. M.; Kind, P. R. N.; Hopkinson, D. A.: Rhodanese isozymes in three subjects with Leber's optic neuropathy. J. Med. Genet. 26: 113-115, 1989.
[0014669]5257.al-Jandal, N.; Farrar, G. J.; Kiang, A.-S.; Humphries, M. M.; Bannon, N.; Findlay, J. B. C.; Humphries, P.; Kenna, P. F.: A novel mutation within the rhodopsin gene (thr94 to ile) causing autosomal dominant congenital stationary night blindness. Hum. Mutat. 13: 75-81, 1999.
[0014670]5258.Alloway, P. G.; Howard, L.; Dolph, P. J.: The formation of stable rhodopsin-arrestin complexes induces apoptosis and photoreceptor cell degeneration. Neuron 28: 129-138, 2000.
[0014671]5259.Berson, E. L.; Rosner, B.; Sandberg, M. A.; Dryja, T. P.: Ocular findings in patients with autosomal dominant retinitis pigmentosa and a rhodopsin gene defect (pro23-to-his). Arch. Ophthal. 109: 92-101, 1991.
[0014672]5260.Berson, E. L.; Rosner, B.; Sandberg, M. A.; Hayes, K. C.; Nicholson, B. W.; Weigel-DiFranco, C.; Willett, W.: A randomized trial of vitamin A and vitamin E supplementation for retinitis pigmentosa. Arch. Ophthal. 111: 761-772, 1993.
[0014673]5261.Borhan, B.; Souto, M. L.; Imai, H.; Shichida, Y.; Nakanishi, K. : Movement of retinal along the visual transduction path. Science 288: 2209-2212, 2000.
[0014674]5262.Bourne, H. R.; Meng, E. C.: Rhodopsin sees the light. Science 289: 733-734, 2000.
[0014675]5263.Bradley, D. G.; Farrar, G. J.; Sharp, E.; Kenna, P.; Humphries, M. M.; McWilliam, P.; Humphries, P.: Exclusion mapping of the autosomal dominant retinitis pigmentosa (RP1) locus from the short arm of chromosome 1. (Abstract) Cytogenet. Cell Genet. 51: 968, 1989.
[0014676]5264.Bouchard, B.; Del Marmol, V.; Jackson, I. J.; Cherif, D.; Dubertret, L.: Molecular characterization of a human tyrosinase-related-protein-2 cDNA: patterns of expression in melanocytic cells. Europ. J. Biochem. 219: 127-134, 1994.
[0014677]5265.Budd, P. S.; Jackson, I. J.: Structure of the mouse tyrosinase-related protein-2/dopachrome tautomerase (Tyrp2/Dct) gene and sequence of two novel slaty alleles. Genomics 29: 35-43, 1995.
[0014678]5266.Cassady, J. L.; Sturm, R. A.: Sequence of the human dopachrome tautomerase-encoding TRP-2 cDNA. Gene 143: 295-298, 1994.
[0014679]5267.Jackson, I. J.; Chambers, D. M.; Tsukamoto, K.; Copeland, N. G.; Gilbert, D. J.; Jenkins, N. A.; Hearing, V.: A second tyrosinase-related protein, TRP-2, maps to and is mutated at the mouse slaty locus. EMBO J. 11: 527-535, 1992.
[0014680]5268.Khong, H. T.; Rosenberg, S. A.: Pre-existing immunity to tyrosinase-related protein (TRP)-2, a new TRP-2 isoform, and the NY-ESO-1 melanoma antigen in a patient with a dramatic response to immunotherapy. J. Immun. 168: 951-956, 2002.
[0014681]5269.Kwon, B. S.: Pigmentation genes: the tyrosinase gene family and the pmel 17 gene family. J. Invest. Derm. 100: 134S-140S, 1993.
[0014682]5270.Sturm, R. A.; Baker, E.; Sutherland, G. R.: Assignment of the tyrosinase-related protein-2 gene (TYRP2) to human chromosome 13q31-q32 by fluorescence in situ hybridization: extended synteny with mouse chromosome 14. Genomics 21: 293-296, 1994.
[0014683]5271.Sturm, R. A.; O'Sullivan B. J.; Box, N. F.; Smith, A. G.; Smit, S. E.; Puttick, E. R. J.; Parsons, P. G.; Dunn, I. S.: Chromosomal structure of the human TYRP1 and TYRP2 loci and comparison of the tyrosinase-related protein gene family. Genomics 29: 24-34, 1995.
[0014684]5272.Somlo, S.; Wirth, B.; Germino, G. G.; Weinstat-Saslow, D.; Gillespie, G. A. J.; Himmelbauer, H.; Steevens, L.; Coucke, P.; Willems, P.; Bachner, L.; Coto, E.; Lopez-Larrea, C.; Peral, B.; San Millan, J. L.; Saris, J. J.; Breuning, M. H.; Frischauf, A.-M.; Reeders, S. T. : Fine genetic localization of the gene for autosomal dominant polycystic kidney disease (PKD1) with respect to physically mapped markers. Genomics 13: 152-158, 1992.
[0014685]5273.Turco, A. E.; Rossetti, S.; Bresin, E.; Corra, S.; Gammaro, L.; Maschio, G.; Pignatti, P. F.: A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family. Hum. Molec. Genet. 4: 1331-1335, 1995.
[0014686]5274.Ward, C. J.; Turley, H.; Ong, A. C. M.; Comley, M.; Biddolph, S.; Chetty, R.; Ratcliffe, P. J.; Gatter, K.; Harris, P. C.: Polycystin, the polycystic kidney disease 1 protein, is expressed by epithelial cells in fetal, adult, and polycystic kidney. Proc. Nat. Acad. Sci. 93: 1524-1528, 1996.
[0014687]5275.Watson, M. L.; Wright, A. F.; Macnicol, A. M.; Allan, P. L.; Clayton, J. F.; Dempster, M.; Jeremiah, S. J.; Corney, G.; Hopkinson, D. A. : Studies of genetic linkage between adult polycystic kidney disease and three markers on chromosome 16. J. Med. Genet. 24: 457-461, 1987.
[0014688]5276.Bachner, L.; Vinet, M. C.; Lacave, R.; Babron, M. C.; Rondeau, E.; Sraer, J. D.; Chevet, D.; Kaplan, J.-C.: Linkage study of a large family with autosomal dominant polycystic kidney disease with reduced expression: absence of linkage to the PKD1 locus. Hum. Genet. 85: 221-227, 1990.
[0014689]5277.Bhunia, A. K.; Piontek, K.; Boletta, A.; Liu, L.; Qian, F.; Xu, P.-N.; Germino, F. J.; Germino, G. G.: PKD1 induces p21-waf1 and regulation of the cell cycle via direct activation of the JAKSTAT signaling pathway in a process requiring PKD2. Cell 109: 157-168, 2002.
[0014690]5278.Greenberg, A. S.; Egan, J. J.; Wek, S. A.; Moos, M. C., Jr.; Londos, C.; Kimmel, A. R.: Isolation of cDNAs for perilipins A and B: sequence and expression of lipid droplet-associated proteins of adipocytes. Proc. Nat. Acad. Sci. 90: 12035-12039, 1993.
[0014691]5279.Greenberg, A. S.; Egan, J. J.; Wek, S. A.; Takeda, T.; Londos, C.; Kimmel, A. K.: Perilipin, a lipid droplet-associated, adipocyte specific protein; cDNA cloning and expression. (Abstract) Clin. Res. 39: 287A only, 1991.
[0014692]5280.Lu, X.; Gruia-Gray, J.; Copeland, N. G.; Gilbert, D. J.; Jenkins, N. A.; Londos, C.; Kimmel, A. R.: The murine perilipin gene: the lipid droplet-associated perilipins derive from tissuespecific, mRNA splice variants and define a gene family of ancient origin. Mammalian Genome 12: 741-749, 2001.
[0014693]5281.Martinez-Botas, J.; Anderson, J. B.; Tessier, D.; Lapillonne, A.; Chang, B. H.-J.; Quast, M. J.; Gorenstein, D.; Chen, K.-H.; Chan, L.: Absence of perilipin results in leanness and reverses obesity in Lepr(db/db) mice. Nature Genet. 26: 474-479, 2000.
[0014694]5282.Nishiu, J.; Tanaka, T.; Nakamura, Y.: Isolation and chromosomal mapping of the human homolog of perilipin (PLIN), a rat adipose tissue-specific gene, by differential display method. Genomics 48: 254-257, 1998.
[0014695]5283.Tansey, J. T.; Sztalryd, C.; Gruia-Gray, J.; Roush, D. L.; Zee, J. V.; Gavrilova, O.; Reitman, M. L.; Deng, C.-X.; Li, C.; Kimmel, A. R.; Londos, C.: Perilipin ablation results in a lean mouse with aberrant adipocyte lipolysis, enhanced leptin production, and resistance to diet-induced obesity. Proc. Nat. Acad. Sci. 98: 6494-6499, 2001.
[0014696]5284.King, C. R.; Schimke, R. N.; Arthur, T.; Davoren, B.; Collins, D.: Proximal 3p deletion in renal cell carcinoma cells from a patient with von Hippel-Lindau disease. Cancer Genet. Cytogenet. 27: 345-348, 1987.
[0014697]5285.Li, F. P.; Decker, H.-J. H.; Zbar, B.; Stanton, V. P., Jr.; Kovacs, G.; Seizinger, B. R.; Aburatani, H.; Sandberg, A. A.; Berg, S.; Hosoe, S.; Brown, R. S.: Clinical and genetic studies of renal cell carcinomas in a family with a constitutional chromosome 3;8 translocation: genetics of familial renal carcinoma. Ann. Intern. Med. 118: 106-111, 1993.
[0014698]5286.Ohta, M.; Inoue, H.; Cotticelli, M. G.; Kastury, K.; Baffa, R.; Palazzo, J.; Siprashvili, Z.; Mori, M.; McCue, P.; Druck, T.; Croce, C. M.; Huebner, K.: The FHIT gene, spanning the chromosome 3p14.2 fragile site and renal carcinoma-associated t(3;8) breakpoint, is abnormal in digestive tract cancers. Cell 84: 587-597, 1996.
[0014699]5287.Komure, O.; Sano, A.; Nishino, N.; Yamauchi, N.; Ueno, S.; Kondoh, K.; Sano, N.; Takahashi, M.; Murayama, N.; Kondo, I.; Nagafuchi, S.; Yamada, M.; Kanazawa, I.: DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation. Neurology 45: 143-149, 1995.
[0014700]5288.Nagafuchi, S.; Yanagisawa, H.; Sato, K.; Shirayama, T.; Ohsaki, E.; Bundo, M.; Takeda, T.; Tadokoro, K.; Kondo, I.; Murayama, N.; Tanaka, Y.; Kikushima, H.; Umino, K.; Kurosawa, H.; Furukawa, T.; Nihei, K.; Inoue, T.; Sano, A.; Komure, O.; Takahashi, M.; Yoshizawa, T.; Kanazawa, I.; Yamada, M.: Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nature Genet. 6: 14-18, 1994.
[0014701]5289.Norremolle, A.; Nielsen, J. E.; Sorensen, S. A.; Hasholt, L.: Elongated CAG repeats of the B37 gene in a Danish family with dentato-rubro-pallido-luysian atrophy. Hum. Genet. 95: 313-318, 1995.
[0014702]5290.Oyake, M.; Onodera, O.; Shiroishi, T.; Takano, H.; Takahashi, Y.; Kominami, R.; Moriwaki, K.; Ikeuchi, T.; Igarashi, S.; Tanaka, H.; Tsuji, S.: Molecular cloning of murine homologue dentatorubral-pallidoluysian atrophy (DRPLA) cDNA: strong conservation of a polymorphic CAG repeat in the murine gene. Genomics 40: 205-207, 1997.
[0014703]5291.Potter, N. T.: The relationship between (CAG)n repeat number and age of onset in a family with dentatorubral-pallidoluysian atrophy (DRPLA): diagnostic implications of confirmatory and predictive testing. J. Med. Genet. 33: 168-170, 1996.
[0014704]5292.Roses, A. D.: From genes to mechanisms to therapies: lessons to be learned from neurological disorders. Nature Med. 2: 267-269, 1996.
[0014705]5293.Saitoh, S.; Momoi, M. Y.; Yamagata, T.; Miyao, M.; Suwa, K.: Clinical and electroencephalographic findings in juvenile type DRPLA. Pediat. Neurol. 18: 265-268, 1998.
[0014706]5294.Sano, A.; Yamauchi, N.; Kakimoto, Y.; Komure, O.; Kawai, J.; Hazama, F.; Kuzume, K.; Sano, N.; Kondo, I.: Anticipation in hereditary dentatorubral-pallidoluysian atrophy. Hum. Genet. 93: 699-702, 1994.
[0014707]5295.Sato, K.; Kashihara, K.; Okada, S.; Ikeuchi, T.; Tsuji, S.; Shomori, T.; Morimoto, K.; Hayabara, T.: Does homozygosity advance the onset of dentatorubral-pallidoluysian atrophy? Neurology 45: 1934-1936, 1995.
[0014708]5296.Sato, T.; Oyake, M.; Nakamura, K.; Nakao, K.; Fukusima, Y.; Onodera, O.; Igarashi, S.; Takano, H.; Kikugawa, K.; Ishida, Y.; Shimohata, T.; Koide, R.; and 15 others: Transgenic mice harboring a full-length human mutant DRPLA gene exhibit age-dependent intergenerational and somatic instabilities of CAG repeats comparable with those in DRPLA patients. Hum. Molec. Genet. 8: 99-106, 1999.
[0014709]5297.Schmitt, I.; Epplen, J. T.; Riess, O.: Predominant neuronal expression of the gene responsible for dentatorubral-pallidoluysian atrophy (DRPLA) in rat. Hum. Molec. Genet. 4: 1619-1624, 1995.
[0014710]5298.Shimojo, Y.; Osawa, Y.; Fukumizu, M.; Hanaoka, S.; Tanaka, H.; Ogata, F.; Sasaki, M; Sugai, K.: Severe infantile dentatorubral pallidoluysian atrophy with extreme expansion of CAG repeats. Neurology 56: 277-278, 2001.
[0014711]5299.Sisodia, S. S.: Nuclear inclusions in glutamine repeat disorders: are they pernicious, coincidental, or beneficial? Cell 95: 1-4, 1998.
[0014712]5300.Smith, J. K.: Dentatorubropallidoluysian atrophy.In: Vinken, P. J.; Bruyn, G. W. (eds): Handbook of Clinical Neurology. Part I. System Disorders and Atrophies. New York: Elsevier Publishing Co. Vol. 21: 1975. Pp. 519-534.
[0014713]5301.Smith, J. K.; Conda, V. E.; Malamud, N.: Unusual form of cerebellar ataxia: combined dentato-rubral and pallido-Luysian degeneration. Neurology 8: 205-209, 1958.
[0014714]5302.Takahashi, H.; Ohama, E.; Naito, H.; Takeda, S.; Nakashima, S.; Makifuchi, T.; Ikuta, F.: Hereditary dentato-rubral-pallidoluysian atrophy: clinical and pathologic variants in a family. Neurology 38: 1065-1070, 1988.
[0014715]5303.Takano, T.; Yamanouchi, Y.; Nagafuchi, S.; Yamada, M.: Assignment of the dentatorubral and pallidoluysian atrophy (DRPLA) gene to 12p13.31 by fluorescence in situ hybridization. Genomics 32: 171-172, 1996.
[0014716]5304.Takiyama, Y.; Sakoe, K.; Amaike, M.; Soutome, M.; Ogawa, T.; Nakano, I.; Nishizawa, M.: Single sperm analysis of the CAG repeats in the gene for dentatorubral-pallidoluysian atrophy (DRPLA): the instability of the CAG repeats in the DRPLA gene is prominent among the CAG repeat diseases. Hum. Molec. Genet. 8: 453-457, 1999.
[0014717]5305.Tomoda, A.; Ikezawa, M.; Ohtani, Y.; Miike, T.; Kumamoto, T.: Progressive myoclonus epilepsy: dentato-rubro-pallido-luysian atrophy (DRPLA) in childhood. Brain Dev. 13: 266-269, 1991.
[0014718]5306.Tsuji, S.: Personal Communication. Niigata, Japan 11/15/1993.
[0014719]5307.Ueno, S.; Kondoh, K.; Kotani, Y.; Komure, O.; Kuno, S.; Kawai, J.; Hazama, F.; Sano, A.: Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy (DRPLA). Hum. Molec. Genet. 4: 663-666, 1995.
[0014720]5308.Warner, T. T.; Williams, L.; Harding, A. E.: DRPLA in Europe. (Letter) Nature Genet. 6: 225, 1994.
[0014721]5309.Watanabe, H.; Tanaka, F.; Matsumoto, M.; Doyu, M.; Ando, T.; Mitsuma, T.; Sobue, G.: Frequency analysis of autosomal dominant cerebellar ataxias in Japanese patients and clinical characterization of spinocerebellar ataxia type 6. Clin. Genet. 53: 13-19, 1998.
[0014722]5310.Wood, J. D.; Yuan, J.; Margolis, R. L.; Colomer, V.; Duan, K.; Kushi, J.; Kaminsky, Z.; Kleiderlein, J. J., Jr.; Sharp, A. H.; Ross, C. A.: Atrophin-1, the DRPLA gene product, interacts with two families of WW domain-containing proteins. Molec. Cell. Neurosci. 11: 149-160, 1998.
[0014723]5311.Aksoy, M.; Erdem, S.: Combination of hereditary elliptocytosis and heterozygous betathalassemia: a family study. J. Med. Genet. 5: 298-301, 1968.
[0014724]5312.Alloisio, N.; Dorleac, E.; Delaunay, J.; Girot, R.; Galand, C.; Boivin, P.: A shortened variant of red cell membrane protein 4.1. Blood 60: 265-267, 1982.
[0014725]5313.Alloisio, N.; Dorleac, E.; Girot, R.; Delaunay, J.: Analysis of red cell membrane in a family with hereditary elliptocytosis: total or partial absence of protein 4.1. Hum. Genet. 59: 68-71, 1981.
[0014726]5314.Alloisio, N.; Morle, L.; Dorleac, E.; Gentilhomme, O.; Bachir, D.; Guetarni, D.; Colonna, P.; Bost, M.; Zouaoui, Z.; Roda, L.; Roussel, D.; Delaunay, J.: The heterozygous form of 4.1(-) hereditary elliptocytosis [the 4.1(-) trait]. Blood 65: 46-51, 1985.
[0014727]5315.Bahary, N.; Zorich, G.; Pachter, J. E.; Leibel, R. L.; Friedman, J. M.: Molecular genetic linkage maps of mouse chromosomes 4 and 6. Genomics 11: 33-47, 1991.
[0014728]5316.Baklouti, F.; Huang, S.-C.; Vulliamy, T. J.; Delaunay, J.; Benz, E. J., Jr.: Organization of the human protein 4.1 genomic locus: new insights into the tissue-specific alternative splicing of the pre-mRNA. Genomics 39: 289-302, 1997.
[0014729]5317.Bannerman, R. M.; Renwick, J. H.: The hereditary elliptocytoses: clinical and linkage data. Ann. Hum. Genet. 26: 23-38, 1962.
[0014730]5318.Clarke, C. A.; Donohoe, W. T. A.; Finn, R.; McConnell, R. B.; Sheppard, P. M.; Nicol, D. S. H.: Data on linkage in man: ovalocytosis, sickling and the Rhesus blood group complex. Ann. Hum. Genet. 24: 283-287, 1960.
[0014731]5319.Conboy, J.; Kan, Y. W.; Shohet, S. B.; Mohandas, N.: Molecular cloning of protein 4.1, a major structural element of the human erythrocyte membrane skeleton. Proc. Nat. Acad. Sci. 83: 9512-9516, 1986.
[0014732]5320.Conboy, J.; Marchesi, S.; Kim, R.; Agre, P.; Kan, Y. W.; Mohandas, N.: Molecular analysis of insertion/deletion mutations in protein 4.1 in elliptocytosis. II. Determination of molecular genetic origins of rearrangements. J. Clin. Invest. 86: 524-530, 1990.
[0014733]5321.Conboy, J.; Mohandas, N.; Tchernia, G.; Kan, Y. W.: Molecular basis of hereditary elliptocytosis due to protein 4.1 deficiency. New Eng. J. Med. 315: 680-685, 1986.
[0014734]5322.Conboy, J. G.: Structure, function, and molecular genetics of erythroid membrane skeletal protein 4.1 in normal and abnormal red blood cells. Seminars Hemat. 30: 58-73, 1993.
[0014735]5323.Conboy, J. G.; Chan, J.; Mohandas, N.; Kan, Y. W.: Multiple protein 4.1 isoforms produced by alternative splicing in human erythroid cells. Proc. Nat. Acad. Sci. 85: 9062-9065, 1988.
[0014736]5324.Conboy, J. G.; Chasis, J. A.; Winardi, R.; Tchernia, G.; Kan, Y. W.; Mohandas, N.: An isoform-specific mutation in the protein 4.1 gene results in hereditary elliptocytosis and complete deficiency of protein 4.1 in erythrocytes but not in nonerythroid cells. J. Clin. Invest. 91: 77-82, 1993.
[0014737]5325.Conboy, J. G.; Mohandas, N.; Wang, C.; Tchernia, G.; Shohet, S. B.; Kan, Y. W.: Molecular cloning and characterization of the gene coding for red cell membrane skeletal protein 4.1. (Abstract) Blood 66 (suppl. 1): 31A, 1985.
[0014738]5326.Cook, P. J. L.; Noades, J. E.; Newton, M. S.; de Mey, R.: On the orientation of the Rh:E1-1 linkage group. Ann. Hum. Genet. 41: 157-162, 1977.
[0014739]5327.Puffenberger, E. G.; Hosoda, K.; Washington, S. S.; Nakao, K.; deWit, D.; Yanagisawa, M.; Chakravarti, A.: A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell 79: 1257-1266, 1994.
[0014740]5328.Svensson, P.-J.; Anvret, M.; Molander, M.-L.; Nordenskjold, A. : Phenotypic variation in a family with mutations in two Hirschsprung-related genes (RET and endothelin receptor B). Hum. Genet. 103: 145-148, 1998.
[0014741]5329.Hanks, M.; Wurst, W.; Anson-Cartwright, L.; Auerbach, A. B.; Joyner, A. L.: Rescue of the En-1 mutant phenotype by replacement of En-1 with En-2. Science 269: 679-682, 1995.
[0014742]5330.Johnson, R. L.; Tabin, C. J.: Molecular models for vertebrate limb development. Cell 90: 979-990, 1997.
[0014743]5331.Kohler, A.; Logan, C.; Joyner, A. L.; Muenke, M.: Regional assignment of the human homeobox-containing gene EN1 to chromosome 2q13-q21. Genomics 15: 233-235, 1993.
[0014744]5332.Logan, C.; Hanks, M. C.; Noble-Topham, S.; Nallainathan, D.; Provart, N. J.; Joyner, A. L.: Cloning and sequence comparison of the mouse, human, and chicken engrailed genes reveal potential functional domains and regulatory regions. Dev. Genet. 13: 345-358, 1992.
[0014745]5333.Logan, C.; Willard, H. F.; Rommens, J. M.; Joyner, A. L.: Chromosomal localization of the human homeo box-containing genes, EN1 and EN2. Genomics 4: 206-209, 1989.
[0014746]5334.Loomis, C. A.; Harris, E.; Michaud, J.; Wurst, W.; Hanks, M.; Joyner, A. L.: The mouse engrailed-1 gene and ventral limb patterning. Nature 382: 360-363, 1996.
[0014747]5335.Martin, G. R.; Richman, M.; Reinsch, S.; Nadeau, J. H.; Joyner, A.: Mapping of the two mouse engrailed-like genes: close linkage of En-1 to dominant hemimelia (Dh) on chromosome 1 and of En-2 to hemimelic extra-toes (Hx) on chromosome 5. Genomics 6: 302-308, 1990.
[0014748]5336.Matsui, T.; Hirai, M.; Hirano, M.; Kurosawa, Y.: The HOX complex neighbored by the EVX gene, as well as two other homeobox-containing genes, the GBX-class and the EN class, are located on the same chromosomes 2 and 7 in humans. FEBS Lett. 336: 107-110, 1993.
[0014749]5337.Wurst, W.; Auerbach, A. B.; Joyner, A. L.: Multiple developmental defects in Engrailed-1 mutant mice: an early mid-hindbrain deletion and patterning defects in forelimbs and sternum. Development 120: 2065-2075, 1994.
[0014750]5338.Kohl, S.; Baumann, B.; Rosenberg, T.; Kellner, U.; Lorenz, B.; Vadala, M.; Jacobson, S. G.; Wissinger, B.: Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. Am. J. Hum. Genet. 71: 422-425, 2002.
[0014751]5339.Morris, T. A.; Fong, S.-L.: Characterization of the gene encoding human cone transducin alpha-subunit (GNAT2). Genomics 17: 442-448, 1993.
[0014752]5340.Sparkes, R. S.; Cohn, V. H.; Cire-Eversole, P.; Blatt, C.; Amatruda, T. T.; Weiner, L. P.; Nesbitt, M.; Reed, R. R.; Lochrie, M. A.; Fournier, R. E. K.; Simon, M. I.: Mapping of genes encoding the subunits of guanine nucleotide-binding proteins (G-proteins) in the mouse. (Abstract) Cytogenet. Cell Genet. 46: 696 only, 1987.
[0014753]5341.Compton, J. G.: Epidermal disease: faulty keratin filaments take their toll. Nature Genet. 6: 6-7, 1994.
[0014754]5342.Kimonis, V.; DiGiovanna, J. J.; Yang, J.-M.; Doyle, S. Z.; Bale, S. J.; Compton, J. G.: A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma. J. Invest. Derm. 103: 764-769, 1994.
[0014755]5343.Le Marchand-Brustel, Y.; Gremeaux, T.; Ballotti, R.; van Obberghen, E.: Insulin receptor tyrosine kinase is defective in skeletal muscle of insulin-resistant obese mice. Nature 315: 676-679, 1985.
[0014756]5344.Leme, C. E.; Wajchenberg, B. L.; Lerario, A. C.; Goldman, J.; Borges, J. L. C.: Acanthosis nigricans, hirsutism, insulin resistance and insulin receptor defect. Clin. Endocr. 17: 43-49, 1982.
[0014757]5345.Longo, N.; Langley, S. D.; Griffin, L. D.; Elsas, L. J.: Activation of glucose transport by a natural mutation in the human insulin receptor. Proc. Nat. Acad. Sci. 90: 60-64, 1993.
[0014758]5346.Longo, N.; Langley, S. D.; Griffin, L. D.; Elsas, L. J., II: Reduced mRNA and a nonsense mutation in the insulin-receptor gene produce heritable severe insulin resistance. Am. J. Hum. Genet. 50: 998-1007, 1992.
[0014759]5347.Maassen, J. A.; Klinkhamer, M. P.; Odink, R. J. H.; Sips, H.; van der Zon, G. C. M.; Wieringa, T.; Krans, H. M. J.; Moller, W.: Improper expression of insulin receptors on fibroblasts from a leprechaun patient. Europ. J. Biochem. 172: 725-729, 1988.
[0014760]5348.Mariani, S.; Pedone, A.; Meschi, F.; Di Natale, B.; Caputo, R.; Broggi, U.; Chiumello, G.: Insulin resistance in a child with acanthosis nigricans type A. Acta Paediat. Scand. 71: 667-670, 1982.
[0014761]5349.Michael, M. D.; Kulkarni, R. N.; Postic, C.; Previs, S. F.; Shulman, G. I.; Magnuson, M. A.; Kahn, C. R.: Loss of insulin signaling in hepatocytes leads to severe insulin resistance and progressive hepatic dysfunction. Molec. Cell 6: 87-97, 2000.
[0014762]5350.Moller, D. E.; Cohen, O.; Yamaguchi, Y.; Assiz, R.; Grigorescu, F.; Eberle, A.; Morrow, L. A.; Moses, A. C.; Flier, J. S.: Prevalence of mutations in the insulin receptor gene in subjects with features of the type A syndrome of insulin resistance. Diabetes 43: 247-255, 1994.
[0014763]5351.Moller, D. E.; Flier, J. S.: Insulin resistance--mechanisms, syndromes, and implications. New Eng. J. Med. 325: 938-948, 1991.
[0014764]5352.Moller, D. E.; Flier, J. S.: Detection of an alteration in the insulin-receptor gene in a patient with insulin resistance, acanthosis nigricans, and the polycystic ovary syndrome (type A insulin resistance). New Eng. J. Med. 319: 1526-1529, 1988.
[0014765]5353.Moller, D. E.; Yokota, A.; Ginsberg-Fellner, F.; Flier, J. S. : Functional properties of a naturally occurring trp(1200)-to-ser(1200) mutation of the insulin receptor. Molec. Endocr. 4: 1183-1191, 1990.
[0014766]5354.Moller, D. E.; Yokota, A.; Pazianos, A.; Flier, J. S.: A missense mutation in one allele of the tyrosine kinase domain of the insulin receptor gene is associated with dominantly inherited insulin resistance. (Abstract) Clin. Res. 38: 435A only, 1990.
[0014767]5355.Moller, D. E.; Yokota, A.; White, M. F.; Pazianos, A. G.; Flier, J. S.: A naturally occurring mutation of insulin receptor alanine 1134 impairs tyrosine kinase function and is associated with dominantly inherited insulin resistance. J. Biol. Chem. 265: 14979-14985, 1990.
[0014768]5356.Moncada, V. Y.; Hedo, J. A.; Serrano-Rios, M.; Taylor, S. I.: Insulin-receptor biosynthesis in cultured lymphocytes from an insulin-resistant patient (Rabson-Mendenhall syndrome): evidence for defect before insertion of receptor into plasma membrane. Diabetes 35: 802-807, 1986.
[0014769]5357.Norton, K. I.; Glicklich, M.; Kupchik, G.; Gray, C. E.; Ludman, M.: Leprechaunism: a case report with radiographic features. Dysmorph. Clin. Genet. 4: 57-62, 1990.
[0014770]5358.Odawara, M.; Kadowaki, T.; Yamamoto, R.; Shibasaki, Y.; Tobe, K.; Accili, D.; Bevins, C.; Mikami, Y.; Matsuura, N.; Akanuma, Y.; Takaku, F.; Taylor, S. I.; Kasuga, M.: Human diabetes associated with a mutation in the tyrosine kinase domain of the insulin receptor. Science 245: 66-68, 1989.
[0014771]5359.Ojamaa, K.; Hedo, J. A.; Roberts, C. T., Jr.; Moncada, V. Y.; Gorden, P.; Ullrich, A.; Taylor, S. I.: Defects in human insulin receptor gene expression. Molec. Endocr. 2: 242-247, 1988.
[0014772]5360.Prince, M. J.; Smith, F. E.; Peters, E. J.; Stuart, C. A.: Functional characteristics of decreased insulin receptors on fibroblasts obtained from a subject with severe insulin resistance and acanthosis nigricans. Diabetes 35: 148-154, 1986.
[0014773]5361.Quin, J. D.; Fisher, B. M.; Paterson, K. R.; Inoue, A.; Beastall, G. H.; MacCuish, A. C.: Acute response to recombinant insulin-like growth factor-I in a patient with Mendenhall's syndrome. New Eng. J. Med. 323: 1425-1426, 1991.
[0014774]5362.Quon, M. J.; Guerre-Millo, M.; Zarnowski, M. J.; Butte, A. J.; Em, M.; Cushman, S. W.; Taylor, S. I.: Tyrosine kinase-deficient mutant human insulin receptors (met1153-to-ile) overexpressed in transfected rat adipose cells fail to mediate translocation of epitope-tagged GLUT4. Proc. Nat. Acad. Sci. 91: 5587-5591, 1994.
[0014775]5363.Rabson, S. M.; Mendenhall, E. N.: Familial hypertrophy of pineal body, hyperplasia of adrenal cortex and diabetes mellitus. Am. J. Clin. Path. 26: 283-290, 1956.
[0014776]5364.Rajala, R. V. S.; Anderson, R. E.: Interaction of the insulin receptor beta-subunit with phosphatidylinositol 3-kinase in bovine ROS. Invest. Ophthal. Vis. Sci. 42: 3110-3117, 2001.
[0014777]5365.Roth, R. A.; Cassell, D. J.: Insulin receptor: evidence that it is a protein kinase. Science 219: 299-301, 1983.
[0014778]5366.Rubin, C. S.: Personal Communication. Bronx, N. Y. 12/8/1984.
[0014779]5367.Rudiger, H. W.; Ahrens, P.; Dreyer, M.; Frorath, B.; Loffel, C.; Schmidt-Preuss, U.: Impaired insulin-induced RNA synthesis secondary to a genetically defective insulin receptor. Hum. Genet. 69: 76-78, 1985.
[0014780]5368.Rudiger, H. W.; Dreyer, M.; Kuhnau, J.; Bartelheimer, H.: Familial insulin-resistant diabetes secondary to an affinity defect of the insulin receptor. Hum. Genet. 64: 407-411, 1983.
[0014781]5369.Salmeen, A.; Andersen, J. N.; Myers, M. P.; Tonks, N. K.; Barford, D.: Molecular basis for the dephosphorylation of the activation segment of the insulin receptor by protein tyrosine phosphatase 1B. Molec. Cell 6: 1401-1412, 2000.
[0014782]5370.Scarlett, J. A.; Kolterman, O. G.; Moore, P.; Saekow, M.; Insel, J.; Griffin, J.; Mako, M.; Rubenstein, A. H.; Olefsky, J. M.: Insulin resistance and diabetes due to a genetic defect in insulin receptors. J. Clin. Endocr. Metab. 55: 123-132, 1982.
[0014783]5371.Seino, S.; Seino, M.; Nishi, S.; Bell, G. I.: Structure of the human insulin receptor gene and characterization of its promoter. Proc. Nat. Acad. Sci. 86: 114-118, 1989.
[0014784]5372.Botto, M.; Fong, K. Y.; So, A. K.; Koch, C.; Walport, M. J.: Molecular basis of polymorphisms of human complement component C3. J. Exp. Med. 172: 1011-1017, 1990.
[0014785]5373.Polymeropoulos, M. H.; Torres, R.; Yanovski, J. A.; Chandrasekharappa, S. C.; Ledbetter, D. H.: The human corticotropin-releasing factor receptor (CRHR) gene maps to chromosome 17q12-q22. Genomics 28: 123-124, 1995.
[0014786]5374.Greenspan, D. S.; Northrup, H.; Au, K.-S.; McAllister, K. A.; Francomano, C. A.; Wenstrup, R. J.; Marchuk, D. A.; Kwiatkowski, D. J.: COL5A1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos syndrome type II. Genomics 25: 737-739, 1995.
[0014787]5375.Comings, D. E.: Evidence for ancient tetraploidy and conservation of linkage groups in mammalian chromosomes. Nature 238: 455-467, 1972.
[0014788]5376.Deol, M. S.: Genetical studies on the skeleton of the mouse. XXVIII. Tail-short. Proc. Roy. Soc. Ser. B. 155: 78-95, 1961.
[0014789]5377.Hart, C. P.; Awgulewitsch, A.; Fainsod, A.; McGinnis, W.; Ruddle, F. H.: Homeo box gene complex on mouse chromosome 11: molecular cloning, expression in embryogenesis, and homology to a human homeo box locus. Cell 43: 9-18, 1985.
[0014790]5378.Hauser, C. A.; Joyner, A. L.; Klein, R. D.; Learned, T. K.; Martin, G. R.; Tjian, R.: Expression of homologous homeo-box-containing genes in differentiated human teratocarcinoma cells and mouse embryos. Cell 43: 19-28, 1985.
[0014791]5379.Levine, M.; Rubin, G. M.; Tjian, R.: Human DNA sequences homologous to a protein coding region conserved between homeotic genes of Drosophila. Cell 38: 667-673, 1984.
[0014792]5380.Manley, J. L.; Levine, M. S.: The homeo box and mammalian development. Cell 43: 1-2, 1985.
[0014793]5381.Meijlink, F.; de Laaf, R.; Verrijzer, P.; Destree, O.; Kroezen, V.; Hilkens, J.; Deschamps, J.: A mouse homeobox containing gene on chromosome 11: sequence and tissue-specific expression. Nucleic Acids Res. 15: 6773-6786, 1987.
[0014794]5382.Miki, T.; Murphy, P. D.; Pletcher, B. A.; Kidd, J. R.; Ferguson-Smith, A. C.; Ruddle, F. H.; Kidd, K. K.: HOX2 maps to 17q near PPY and NGFR. (Abstract) Cytogenet. Cell Genet. 46: 662 only, 1987.
[0014795]5383.Munke, M.; Cox, D. R.; Jackson, I. J.; Hogan, B. L. M.; Francke, U.: The murine Hox-2 cluster of homeo box containing genes maps distal on chromosome 11 near the tail-short (Ts) locus. Cytogenet. Cell Genet. 42: 236-240, 1986.
[0014796]5384.Ruddle, F. H.: Personal Communication. New Haven, Conn. 1987.
[0014797]5385.Ruddle, F. H.: Personal Communication. New Haven, Conn. 1985.
[0014798]5386.Schughart, K.; Utset, M. F.; Awgulewitsch, A.; Ruddle, F. H.: Structure and expression of Hox-2.2, a murine homeobox-containing gene. Proc. Nat. Acad. Sci. 85: 5582-5586, 1988.
[0014799]5387.Trainor, P. A.; Ariza-McNaughton, L.; Krumlauf, R.: Role of the isthmus and FGFs in resolving the paradox of neural crest plasticity and prepatterning. Science 295: 1288-1291, 2002.
[0014800]5388.Kaur, S.; Singh, G.; Stock, J. L.; Schreiner, C. M.; Kier, A. B.; Yager, K. L.; Mucenski, M. L.; Scott, W. J., Jr.; Potter, S. S.: Dominant mutation of the murine Hox-2.2 gene results in developmental abnormalities. J. Exp. Zool. 264: 323-336, 1992.
[0014801]5389.Lill, M. C.; Fuller, J. F.; Herzig, R.; Crooks, G. M.; Gasson, J. C.: The role of the homeobox gene, HOX B7, in human myelomonocytic differentiation. Blood 85: 692-697, 1995.
[0014802]5390.Simeone, A.; Mavilio, F.; Acampora, D.; Giampaolo, A.; Faiella, A.; Zappavigna, V.; D'Esposito, M.; Pannese, M.; Russo, G.; Boncinelli, E.; Peschle, C.: Two human homeobox genes, c1 and c8: structure analysis and expression in embryonic development. Proc. Nat. Acad. Sci. 84: 4914-4918, 1987.
[0014803]5391.Yaron, Y.; McAdara, J. K.; Lynch, M.; Hughes, E.; Gasson, J. C. : Identification of novel functional regions important for the activity of HOXB7 in mammalian cells. J. Immun. 166: 5058-5067, 2001.
[0014804]5392.Botto, M.; Fong, K. Y.; So, A. K.; Rudge, A.; Walport, M. J.: Molecular basis of hereditary C3 deficiency. J. Clin. Invest. 86: 1158-1163, 1990.
[0014805]5393.Brook, J. D.; Shaw, D. J.; Meredith, L.; Bruns, G. A. P.; Harper, P. S.: Localisation of genetic markers and orientation of the linkage group on chromosome 19. Hum. Genet. 68: 282-285, 1984.
[0014806]5394.Davies, K. E.; Williamson, R.; Ball, S.; Sarfarazi, M.; Meredith, L.; Fey, G.; Harper, P. S.: C3 DNA sequence and protein polymorphisms in linkage analysis of myotonic dystrophy. (Abstract) Cytogenet. Cell Genet. 37: 447 only, 1984.
[0014807]5395.de Bruijn, M. H. L.; Fey, G. H.: Human complement component C3: cDNA coding sequence and derived primary structure. Proc. Nat. Acad. Sci. 82: 708-712, 1985.
[0014808]5396.Donald, J. A.; Ball, S. P.: Approximate linkage equilibrium between two polymorphic sites within the gene for human complement component 3. Ann. Hum. Genet. 48: 269-273, 1984.
[0014809]5397.Drouin, S. M.; Corry, D. B.; Kildsgaard, J.; Wetsel, R. A.: Cutting edge: the absence of C3 demonstrates a role for complement in Th2 effector functions in a murine model of pulmonary allergy. J. Immun. 167: 4141-4145, 2001.
[0014810]5398.Einstein, L. P.; Hansen, P. J.; Ballow, M.; Davis, A. E., III; Davis, J. S., IV; Alper, C. A.; Rosen, F. S.; Colten, H. R.: Biosynthesis of the third component of complement (C3) in vitro by monocytes from both normal and homozygous C3-deficient humans. J. Clin. Invest. 60: 963-969, 1977.
[0014811]5399.Fong, K. Y.; Botto, M.; Walport, M. J.; So, A. K.: Genomic organization of human complement component C3. Genomics 7: 579-586, 1990.
[0014812]5400.Gedde-Dahl, T., Jr.; Teisberg, P.; Thorsby, E.: C(3) polymorphism: genetic linkage relations. Clin. Genet. 6: 66-72, 1974.
[0014813]5401.Goedde, H. W.; Benkmann, H.-G.; Hirth, L.: Genetic polymorphism of C-prime-3(beta-1C-globulin) component of complement in a German and a Spanish population. Humangenetik 10: 231-234, 1970.
[0014814]5402.Grace, H. J.; Brereton-Stiles, G. G.; Vos, G. H.; Schonland, M. : A family with partial and total deficiency of complement C3. S. Afr. Med. J. 50: 139-140, 1976.
[0014815]5403.Hoppe, H. H.; Goedde, H. W.; Agarwal, D. P.; Benkmann, H.-G.; Hirth, L.; Janssen, W.: A silent (C-prime-3) producing partial deficiency of the third component of human complement. Hum. Hered. 28: 141-146, 1978.
[0014816]5404.Johnson, J. P.; McLean, R. H.; Cork, L. C.; Winkelstein, J. A. : Genetic analysis of an inherited deficiency of the third component of complement in Brittany spaniel dogs. Am. J. Med. Genet. 25: 557-562, 1986.
[0014817]5405.Koch, C.; Behrendt, N.: A novel polymorphism of human complement component C3 detected by means of a monoclonal antibody. Immunogenetics 23: 322-325, 1986.
[0014818]5406.McLean, R. H.; Bryan, R. K.; Winkelstein, J.: Hypomorphic variant of the slow allele of C3 associated with hypocomplementemia and hematuria. Am. J. Med. 78: 865-868, 1985.
[0014819]5407.McLean, R. H.; Siegel, N. J.; Kashgarian, M.: Activation of the classic complement pathway in patients with the C3 nephritic factors. Nephron 25: 57-64, 1980.
[0014820]5408.McLean, R. H.; Wienstein, A.; Chapitis, J.; Lowenstein, M.; Rothfield, N. F.: Familial partial deficiency of the third component of complement (C3) and the hypocomplementemic cutaneous vasculitis syndrome. Am. J. Med. 68: 549-558, 1980.
[0014821]5409.Muller-Eberhard, H. J.: Chemistry and reaction mechanisms of complement. Adv. Immun. 8: 1-80, 1968.
[0014822]5410.Nilsson, U. R.; Nilsson, B.; Storm, K.-E.; Sjolin-Forsberg, G.; Hallgren, R.: Hereditary dysfunction of the third component of complement associated with a systemic lupus erythematosus-like syndrome and meningococcal meningitis. Arthritis Rheum. 35: 580-586, 1992.
[0014823]5411.Osofsky, S. G.; Thompson, B. H.; Gewurz, H.; Schmid, F. R.; Mittal, K. K.: Evidence for lack of linkage between HLA and C3 deficiency in man. Immunogenetics 4: 195-198, 1977.
[0014824]5412.Osofsky, S. G.; Thompson, B. H.; Lint, T. F.; Gewurz, H.: Hereditary deficiency of 3rd component of complement in a child with fever, skin rash, and arthralgias--response to transfusion of whole blood. J. Pediat. 90: 180-186, 1977.
[0014825]5413.Power, D. A.; Ng, Y. C.; Simpson, J. G.: Familial incidence of C3 nephritic factor, partial lipodystrophy and membranoproliferative glomerulonephritis. Quart. J. Med. 75: 387-398, 1990.
[0014826]5414.Pratt, J. R.; Basheer, S. A.; Sacks, S. H.: Local synthesis of complement component C3 regulates acute renal transplant rejection. Nature Med. 8: 582-587, 2002.
[0014827]5415.Pussell, B. A.; Bourke, E.; Nayef, M.; Morris, S.; Peters, D. K.: Complement deficiency and nephritis: a report of a family. Lancet I: 675-677, 1980.
[0014828]5416.Raum, D.; Donaldson, V. H.; Rosen, F. S.; Alper, C. A.: Genetics of complement. Curr. Top. Hemat. 3: 111-174, 1980.
[0014829]5417.Sanders, M. F.; Crandall, J.; Huey, B.; Leung, R.; King, M. C. : Possible synteny of LE, SE, and C3. (Abstract) Cytogenet. Cell Genet. 37: 575 only, 1984.
[0014830]5418.Sakai, K.; Yamada, M.; Horiba, N.; Wakui, M.; Demura, H.; Suda, T.: The genomic organization of the human corticotropin-releasing factor type-1 receptor. Gene 219: 125-130, 1998.
[0014831]5419.Sillaber, I.; Rammes, G.; Zimmermann, S.; Mahal, B.; Zieglgansberger, W.; Wurst, W.; Holsboer, F.; Spanagel, R.: Enhanced and delayed stress-induced alcohol drinking in mice lacking functional CRH1 receptors. Science 296: 931-933, 2002.
[0014832]5420.Smith, G. W.; Aubry, J.-M.; Dellu, F.; Contarino, A.; Bilezikjian, L. M.; Gold, L. H.; Chen, R.; Marchuk, Y.; Hauser, C.; Bentley, C. A.; Sawchenko, P. E.; Koob, G. F.; Vale, W.; Lee, K.-F.: Corticotropin releasing factor receptor 1-deficient mice display decreased anxiety, impaired stress response, and aberrant neuroendocrine development. Neuron 20: 1093-1102, 1998.
[0014833]5421.Timpl, P.; Spanagel, R.; Sillaber, I.; Kresse, A.; Reul, J. M. H. M.; Stalla, G. K.; Blanquet, V.; Steckler, T.; Holsboer, F.; Wurst, W.: Impaired stress response and reduced anxiety in mice lacking a functional corticotropin-releasing hormone receptor 1. Nature Genet. 19: 162-166, 1998.
[0014834]5422.Nebert, D. W.: Personal Communication. Bethesda, Md. 1994.
[0014835]5423.Yamano, S.; Tatsuno, J.; Gonzalez, F. J.: The CYP2A3 gene product catalyzes coumarin 7-hydroxylation in human liver microsomes. Biochemistry 29: 1322-1329, 1990.
[0014836]5424.Daigo, S.; Takahashi, Y.; Fujieda, M.; Ariyoshi, N.; Yamazaki, H.; Koizumi, W.; Tanabe, S.; Saigenji, K.; Nagayama, S.; Ikeda, K.; Nishioka, Y.; Kamataki, T.: A novel mutant allele of the CYP2A6 gene (CYP2A6*11) found in a cancer patient who showed poor metabolic phenotype towards tegafur. Pharmacogenetics 12: 299-306, 2002.
[0014837]5425.Ding, S.; Lake, B. G.; Friedberg, T.; Wolf, C. R.: Expression and alternative splicing of the cytochrome P-450 CYP2A7. Biochem. J. 306: 161-166, 1995.
[0014838]5426.Fernandez-Salguero, P.; Hoffman, S. M. G.; Cholerton, S.; Mohrenweiser, H.; Raunio, H.; Rautio, A.; Pelkonen, O.; Huang, J.; Evans, W. E.; Idle, J. R.; Gonzalez, F. J.: A genetic polymorphism in coumarin 7-hydroxylation: sequence of the human CYP2A genes and identification of variant CYP2A6 alleles. Am. J. Hum. Genet. 57: 651-660, 1995.
[0014839]5427.Gu, D. F.; Hinks, L. J.; Morton, N. E.; Day, I. N. M.: The use of long PCR to confirm three common alleles at the CYP2A6 locus and the relationship between genotype and smoking habit. Ann. Hum. Genet. 64: 383-390, 2000.
[0014840]5428.Azim, A. C.; Knoll, J. H. M.; Beggs, A. H.; Chisti, A. H.: Isoform cloning, actin binding, and chromosomal localization of human erythroid dematin, a member of the villin superfamily. J. Biol. Chem. 270: 17407-17413, 1995.
[0014841]5429.Azim, A. C.; Marfatia, S. M.; Korsgren, C.; Dotimas, E.; Cohen, C. M.; Chishti, A. H.: Human erythrocyte dematin and protein 4.2 (pallidin) are ATP binding proteins. Biochemistry 35: 3001-3006, 1996.
[0014842]5430.Chishti, A. H.; Faquin, W.; Wu, C.-C.; Branton, D.: Purification of erythrocyte dematin (protein 4.9) reveals an endogenous protein kinase that modulates actin-bundling activity. J. Biol. Chem. 264: 8985-8991, 1989.
[0014843]5431.Gilligan, D. M.; Bennett, V.: The junctional complex of the membrane skeleton. Seminars Hemat. 30: 74-83, 1993.
[0014844]5432.Khanna, R.; Chang, S. H.; Andrabi, S.; Azam, M.; Kim, A.; Rivera, A.; Brugnara, C.; Low, P. S.; Liu, S.-C.; Chishti, A. H.: Headpiece domain of dematin is required for the stability of the erythrocyte membrane. Proc. Nat. Acad. Sci. 99: 6637-6642, 2002.
[0014845]5433.Peters, L. L.; Eicher, E. M.; Azim, A. C.; Chishti, A. H.: The gene encoding the erythrocyte membrane skeleton protein dematin (Epb4.9) maps to mouse chromosome 14. Genomics 26: 634-635, 1995.
[0014846]5434.Rana, A. P.; Ruff, P.; Maalouf, G. J.; Speicher, D. W.; Chishti, A. H.: Cloning of human erythroid dematin reveals another member of the villin family. Proc. Nat. Acad. Sci. 90: 6651-6655, 1993.
[0014847]5435.Loughlin, J.; Irven, C.; Hardwick, L. J.; Butcher, S.; Walsh, S.; Wordsworth, P.; Sykes, B.: Linkage of the gene that encodes the alpha-1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II). Hum. Molec. Genet. 4: 1649-1651, 1995.
[0014848]5436.Correas, I.; Speicher, D. W.; Marchesi, V. T.: Structure of the spectrin-actin binding site of erythrocyte protein 4.1. J. Biol. Chem. 261: 13362-13366, 1986.
[0014849]5437.Albig, W.; Drabent, B.; Kunz, J.; Kalff-Suske, M.; Grzeschik, K.-H.; Doenecke, D.: All known human H1 histone genes except the H1(0) gene are clustered on chromosome 6. Genomics 16: 649-654, 1993.
[0014850]5438.Tanguay, R. M.; Berube, D.; Gagne, R.: Localization of histone genes to chromosomes 6, 12, and 1 by in situ hybridization. (Abstract) Cytogenet. Cell Genet. 46: 702 only, 1987.
[0014851]5439.Cheng, J.; Baumhueter, S.; Cacalano, G.; Carver-Moore, K.; Thibodeaux, H.; Thomas, R.; Broxmeyer, H. E.; Cooper, S.; Hague, N.; Moore, M.; Lasky, L. A.: Hematopoietic defects in mice lacking the sialomucin CD34. Blood 87: 479-490, 1996.
[0014852]5440.He, X.-Y.; Antao, V. P.; Basila, D.; Marx, J. C.; Davis, B. R. : Isolation and molecular characterization of the human CD34 gene. Blood 79: 2296-2302, 1992.
[0014853]5441.Howell, S. M.; Molgaard, H. V.; Greaves, M. F.; Spurr, N. K.: Localisation of the gene coding for the haemopoietic stem cell antigen CD34 to chromosome 1q32. Hum. Genet. 87: 625-627, 1991.
[0014854]5442.Okuno, Y.; Iwasaki, H.; Huettner, C. S.; Radomska, H. S.; Gonzalez, D. A.; Tenen, D. G.; Akashi, K.: Differential regulation of the human and murine CD34 genes in hematopoietic stem cells. Proc. Nat. Acad. Sci. 99: 6246-6251, 2002.
[0014855]5443.Satterthwaite, A. B.; Burn, T. C.; Le Beau, M. M.; Tenen, D. G. : Structure of the gene encoding CD34, a human hematopoietic stem cell antigen. Genomics 12: 788-794, 1992.
[0014856]5444.Simmons, D. L.; Satterthwaite, A. B.; Tenen, D. G.; Seed, B.: Molecular cloning of a cDNA encoding CD34, a sialomucin of human hematopoietic stem cells. J. Immun. 148: 267-271, 1992.
[0014857]5445.Sutherland, D. R.; Stewart, A. K.; Keating, A.: CD34 antigen: molecular features and potential clinical applications. Stem Cells 11 (suppl. 3): 50-57, 1993.
[0014858]5446.Sutherland, D. R.; Watt, S. M.; Dowden, G.; Karhi, K.; Baker, M. A.; Greaves, M. F.; Smart, J. E.: Structural and partial amino acid sequence analysis of the human hemopoietic progenitor cell antigen CD34. Leukemia 2: 793-803, 1988.
[0014859]5447.Tenen, D. G.; Satterthwaite, A. B.; Borson, R.; Simmons, D.; Eddy, R. L.; Shows, T. B.: Chromosome 1 localization of the gene for CD34, a surface antigen of human stem cells. Cytogenet. Cell Genet. 53: 55-57, 1990.
[0014860]5448.Clegg, J. B.: Can the product of the theta gene be a real globin? Nature 329: 465-466, 1987.
[0014861]5449.Fei, Y. J.; Fujita, S.; Huisman, T. H. J.: Two different theta globin gene deletions observed among black newborn babies. Brit. J. Haemat. 68: 249-253, 1988.
[0014862]5450.Hsu, S.-L.; Marks, J.; Shaw, J.-P.; Tam, M.; Higgs, D. R.; Shen, C. C.; Shen, C.-K. J.: Structure and expression of the human theta-1 globin gene. Nature 331: 94-96, 1988.
[0014863]5451.Leung, S.; Proudfoot, N. J.; Whitelaw, E.: The gene for theta-globin is transcribed in human fetal erythroid tissues. Nature 329: 551-554, 1987.
[0014864]5452.Marks, J.; Shaw, J.-P.; Perez-Stabile, C.; Hu, W.-S.; Ayres, T. M.; Shen, C.; Shen, C.-K. J.: The primate alpha-globin gene family: a paradigm of the fluid genome. Cold Spring Harbor Symp. Quant. Biol. 51: 499-508, 1986.
[0014865]5453.Marks, J.; Shaw, J.-P.; Shen, C.-K. J.: Sequence organization and genomic complexity of primary theta-1 globin gene, a novel alpha-globin-like gene. Nature 321: 785-788, 1986.
[0014866]5454.Peschle, C.; Mavilio, F.; Care, A.; Migliaccio, G.; Migliaccio, A. R.; Salvo, G.; Samoggia, P.; Petti, S.; Guerriero, R.; Marinucci, M.; Lazzaro, D.; Russo, G.; Mastroberardino, G.: Haemoglobin switching in human embryos: asynchrony of zeta-to-alpha- and epsilon-to-gamma-globin switches in primitive and definitive erythropoietic lineage. Nature 313: 235-238, 1985.
[0014867]5455.Utsch, B.; Albers, N.; Dame, C.; Bartmann, P.; Lentze, M. J.; Ludwig, M.: Homozygous alpha-thalassemia associated with hypospadias: SEA-type deletion does not affect expression of the -14 gene and loss of the theta-1-globin gene on 16p13.3 is compensated by its duplicate theta-2 on chromosome 10. (Letter) Am. J. Med. Genet. 101: 286-287, 2001.
[0014868]5456.Pogue-Geile, K.; Geiser, J. R.; Shu, M.; Miller, C.; Wool, I. G.; Meisler, A. I.; Pipas, J. M.: Ribosomal protein genes are overexpressed in colorectal cancer: isolation of a cDNA clone encoding the human S3 ribosomal protein. Molec. Cell. Biol. 11: 3842-3849, 1991.
[0014869]5457.Barton, D. E.; Crimaudo, C.; Hortsch, M.; Francke, U.: The genes for ribophorins I and II are on human chromosomes 3q and 20 and mouse chromosomes 6 and 12, respectively. (Abstract) Cytogenet. Cell Genet. 46: 577 only, 1987.
[0014870]5458.Crimaudo, C.; Hortsch, M.; Gausepohl, H.; Meyer, D. I.: Human ribophorins I and II: the primary structure and membrane topology of two highly conserved round endoplasmic reticulumspecific glycoproteins. EMBO J. 6: 75-82, 1987.
[0014871]5459.Elsasser, S.; Gali, R. R.; Schwickart, M.; Larsen, C. N.; Leggett, D. S.; Muller, B.; Feng, M. T.; Tubing, F.; Dittmar, G. A. G.; Finley, D.: Proteasome subunit Rpn1 binds ubiquitin-like protein domains. Nature Cell Biol. 4: 725-730, 2002.
[0014872]5460.Kelleher, D. J.; Kreibich, G.; Gilmore, R.: Oligosaccharyltransferase activity is associated with a protein complex composed of ribophorins I and II and a 48 kd protein. Cell 69: 55-65, 1992.
[0014873]5461.Horbach, J. M. L. M.; Brenninkmeyer, S. J.; van de Velde, C. J. H.; Nieuwenhuyzen Kruseman, A. C.: A forme fruste of von Hippel-Lindau disease--a combination of adrenal pheochromocytoma and ipsilateral renal cell carcinoma: a case report. Surgery 105: 436-441, 1989.
[0014874]5462.Horton, W. A.; Wong, V.; Eldridge, R.: Von Hippel-Lindau disease--clinical and pathological manifestations in 9 families with 50 affected members. Arch. Intern. Med. 136: 769-777, 1976.
[0014875]5463.Hull, M. T.; Roth, L. M.; Glover, J. L.; Walker, P. D.: Metastatic carotid body paraganglioma in von Hippel-Lindau disease: an electron microscopic study. Arch. Path. Lab. Med. 106: 235-239, 1982.
[0014876]5464.Hosoe, S.; Brauch, H.; Latif, F.; Glenn, G.; Daniel, L.; Bale, S.; Choyke, P.; Gorin, M.; Oldfield, E.; Berman, A.; Goodman, J.; Orcutt, M. L.; Hampsch, K.; Delisio, J.; Modi, W.; McBride, W.; Anglard, P.; Weiss, G.; Walther, M. M.; Linehan, W. M.; Lerman, M. I.; Zbar, B.: Localization of the von Hippel-Lindau disease gene to a small region of chromosome 3. Genomics 8: 634-640, 1990.
[0014877]5465.Huson, S. M.; Harper, P. S.; Hourihan, M. D.; Cole, G.; Weeks, R. D.; Compston, D. A. S.: Cerebellar haemangioblastoma and von Hippel-Lindau disease. Brain 109: 1297-1310, 1986.
[0014878]5466.Iliopoulos, O.; Kibel, A.; Gray, S.; Kaelin, W. G., Jr.: Tumour suppression by the human von Hippel-Lindau gene product. Nature Med. 1: 822-826, 1995.
[0014879]5467.Iliopoulos, O.; Levy, A. P.; Jiang, C.; Kaelin, W. G., Jr.; Goldberg, M. A.: Negative regulation of hypoxia-inducible genes by the von Hippel-Lindau protein. Proc. Nat. Acad. Sci. 93: 10595-10599, 1996.
[0014880]5468.Iliopoulos, O.; Ohh, M.; Kaelin, W. G., Jr.: pVHL(19) is a biologically active product of the von Hippel-Lindau gene arising from internal translation initiation. Proc. Nat. Acad. Sci. 95: 11661-11666, 1998.
[0014881]5469.Ivan, M.; Kondo, K.; Yang, H.; Kim, W.; Valiando, J.; Ohh, M.; Salic, A.; Asara, J. M.; Lane, W. S.; Kaelin, W. G., Jr.: HIF-alpha targeted for VHL-mediated destruction by proline hydroxylation: implications for O(2) sensing. Science 292: 464-468, 2001.
[0014882]5470.Ivanov, S. V.; Kuzmin, I.; Wei, M.-H.; Pack, S.; Geil, L.; Johnson, B. E.; Stanbridge, E. J.; Lerman, M. I.: Down-regulation of transmembrane carbonic anhydrases in renal cell carcinoma cell lines by wild-type von Hippel-Lindau transgenes. Proc. Nat. Acad. Sci. 95: 12596-12601, 1998.
[0014883]5471.Jaakkola, P.; Mole, D. R.; Tian, Y.-M.; Wilson, M. I.; Gielbert, J.; Gaskell, S. J.; von Kriegsheim, A.; Hebestreit, H. F.; Mukherji, M.; Schofield, C. J.; Maxwell, P. H.; Pugh, C. W.; Ratcliffe, P. J. : Targeting of HIF-alpha to the von Hippel-Lindau ubiquitylation complex by O(2)-regulated prolyl hydroxylation. Science 292: 468-472, 2001.
[0014884]5472.James, G. P.: Personal Communication. Springfield, Ohio 8/15/1998.
[0014885]5473.Jennings, A. M.; Smith, C.; Cole, D. R.; Jennings, C.; Shortland, J. R.; Williams, J. L.; Brown, C. B.: Von Hippel-Lindau disease in a large British family: clinicopathological features and recommendations for screening and follow-up. Quart. J. Med. 66: 233-249, 1988.
[0014886]5474.Kanno, H.; Kondo, K.; Ito, S.; Yamamoto, I.; Fujii, S.; Torigoe, S.; Sakai, N.; Hosaka, M.; Shuin, T.; Yao, M.: Somatic mutations of the von Hippel-Lindau tumor suppressor gene in sporadic central nervous system hemangioblastomas. Cancer Res. 54: 4845-4847, 1994.
[0014887]5475.Kanno, H.; Saljooque, F.; Yamamoto, I.; Hattori, S.; Yao, M.; Shuin, T.; U, H.-S.: Role of the von Hippel-Lindau tumor suppressor protein during neuronal differentiation. Cancer Res. 60: 2820-2824, 2000.
[0014888]5476.Kaplan, C.; Sayre, G. P.; Greene, L. F.: Bilateral nephrogenic carcinomas in Lindau-von Hippel disease. J. Urol. 86: 36-42, 1961.
[0014889]5477.Karsdorp, N.; Elderson, A.; Wittebol-Post, D.; Hene, R. J.; Vos, J.; Feldberg, M. A. M.; van Gils, A. P. G.; Jansen-Schillhorn van Veen, J. M.; Vroom, T. M.; Hoppener, J. W. M.; Lips, C. J. M.: Von Hippel-Lindau disease: new strategies in early detection and treatment. Am. J. Med. 97: 158-168, 1994.
[0014890]5478.Keeler, L. L., III; Klauber, G. T.: von Hippel-Lindau disease and renal cell carcinoma in a 16-year-old boy. J. Urol. 147: 1588-1591, 1992.
[0014891]5479.Kenck, C.; Wilhelm, M.; Bugert, P.; Staehler, G.; Kovacs, G.: Mutation of the VHL gene is associated exclusively with the development of non-papillary renal cell carcinomas. J. Path. 179: 157-161, 1996.
[0014892]5480.Kerr, D. J.; Scheithauer, B. W.; Miller, G. M.; Ebersold, M. J.; McPhee, T. J.: Hemangioblastoma of the optic nerve: case report. Neurosurgery 36: 573-581, 1995.
[0014893]5481.Kibel, A.; Iliopoulos, O.; DeCaprio, J. A.; Kaelin, W. G., Jr. : Binding of the von Hippel-Lindau tumor suppressor protein to elongin B and C. Science 269: 1444-1446, 1995.
[0014894]5482.Kiechle-Schwarz, M.; Neumann, H. P. H.; Decker, H.-J. H.; Dietrich, C.; Wullich, B.; Schempp, W.: Cytogenetic studies on three pheochromocytomas derived from patients with von Hippel-Lindau syndrome. Hum. Genet. 82: 127-130, 1989.
[0014895]5483.Spranger, M.; Schapera, J.: Anomalous inheritance in a kindred with split hand, split foot malformation. Europ. J. Pediat. 147: 202-205, 1988.
[0014896]5484.Brown, M. H.; Gorman, P. A.; Sewell, W. A.; Spurr, N. K.; Sheer, D.; Crumpton, M. J.: The gene coding for the human T-lymphocyte CD2 antigen is located on chromosome 1p. Hum. Genet. 76: 191-195, 1987.
[0014897]5485.Clayton, L. K.; Ramachandran, H.; Pravtcheva, D.; Chen, Y.-F.; Diamond, D. J.; Ruddle, F. H.; Reinherz, E. L.: The gene for T11 (CD2) maps to chromosome 1 in humans and to chromosome 3 in mice. J. Immun. 140: 3617-3621, 1988.
[0014898]5486.Diamond, D. J.; Clayton, L. K.; Sayre, P. H.; Reinherz, E. L.: Exon-intron organization and sequence comparison of human and murine T11 (CD2) genes. Proc. Nat. Acad. Sci. 85: 1615-1619, 1988.
[0014899]5487.Festenstein, R.; Tolaini, M.; Corbella, P.; Mamalaki, C.; Parrington, J.; Fox, M.; Miliou, A.; Jones, M.; Kioussis, D.: Locus control region function and heterochromatin-induced position effect variegation. Science 271: 1123-1125, 1996.
[0014900]5488.Kingsmore, S. F.; Watson, M. L.; Moseley, W. S.; Seldin, M. F. : Physical linkage of genes encoding the lymphocyte adhesion molecules CD2 and its ligand LFA-3. Immunogenetics 30: 123-125, 1989.
[0014901]5489.Lang, G.; Wotton, D.; Owen, M. J.; Sewell, W. A.; Brown, M. H.; Mason, D. Y.; Crumpton, M. J.; Kioussis, D.: The structure of the human CD2 gene and its expression in transgenic mice. EMBO J. 7: 1675-1682, 1988.
[0014902]5490.Richardson, N. E.; Chang, H.-C.; Brown, N. R.; Hussey, R. E.; Sayre, P. H.; Reinherz, E. L.: Adhesion domain of human T11 (CD2) is encoded by a single exon. Proc. Nat. Acad. Sci. 85: 5176-5180, 1988.
[0014903]5491.Seed, B.; Aruffo, A.: Molecular cloning of the CD2 antigen, the T-cell erythrocyte receptor, by a rapid immunoselection procedure. Proc. Nat. Acad. Sci. 84: 3365-3369, 1987.
[0014904]5492.Sewell, W. A.; Brown, M. H.; Dunne, J.; Owen, M. J.; Crumpton, M. J.: Molecular cloning of the human T-lymphocyte surface CD2 (T11) antigen. Proc. Nat. Acad. Sci. 83: 8718-8722, 1986.
[0014905]5493.Wang, J.; Smolyar, A.; Tan, K.; Liu, J.; Kim, M.; Sun, Z. J.; Wagner, G.; Reinherz, E. L.: Structure of a heterophilic adhesion complex between the human CD2 and CD58 (LFA-3) counterreceptors. Cell 97: 791-803, 1999.
[0014906]5494.Bibbins, K. B.; Tsai, J.-Y.; Schimenti, J.; Sarvetnick, N.; Zoghbi, H. Y.; Goodfellow, P.; Silver, L. M.: Human homologs of two testes-expressed loci on mouse chromosome 17 map to opposite arms of chromosome 6. Genomics 5: 139-143, 1989.
[0014907]5495.Blanche, H.; de Gouyon, B.; Kolaga, V.; Dausset, J.; Silver, L.; Cann, H.; Spielman, R.: Three loci homologous with murine t complex genes are localized in a 4 point linkage group on the long arm of chromosome 6 (6q). (Abstract) Cytogenet. Cell Genet. 51: 963 only, 1989.
[0014908]5496.Gogolin, K. J.; Wright, L. G.; Kolaga, V. J.; Silver, L. M.; Spielman, R. S.: RFLPs detected with the human TCP10 gene, a homologue of a mouse t-complex gene. Nucleic Acids Res. 19: 4313 only, 1991.
[0014909]5497.Islam, S. D.; Pilder, S. H.; Decker, C. L.; Cebra-Thomas, J. A.; Silver, L. M.: The human homolog of a candidate mouse t complex responder gene: conserved motifs and evolution with punctuated equilibria. Hum. Molec. Genet. 2: 2075-2079, 1993.
[0014910]5498.Silver, L. M.: The peculiar journey of a selfish chromosome: mouse t haplogypes and meiotic drive. Trends Genet. 9: 250-254, 1993.
[0014911]5499.Brissenden, J. E.; Derynck, R.; Francke, U.: Transforming growth factor alpha gene (TGFA) maps to human chromosome 2 close to the breakpoint of the t(2;8) variant translocation in Burkitt lymphoma. (Abstract) Cytogenet. Cell Genet. 40: 589 only, 1985.
[0014912]5500.Collin, G. B.; Marshall, J. D.; Naggert, J. K.; Nishina, P. M. : TGFA: exon-intron structure and evaluation as a candidate gene for Alstrom syndrome. (Letter) Clin. Genet. 55: 61-62, 1999.
[0014913]5501.Ellis, D. L.; Kafka, S. P.; Chow, J. C.; Nanney, L. B.; Inman, W. H.; McCadden, M. E.; King, L. E., Jr.: Melanoma, growth factors, acanthosis nigricans, the sign of Leser-Trelat, and multiple acrochordons: a possible role for alpha-transforming growth factor in cutaneous paraneoplastic syndromes. New Eng. J. Med. 317: 1582-1587, 1987.
[0014914]5502.Fernandez-Larrea, J.; Merlos-Suarez, A.; Urena, J. M.; Baselga, J.; Arribas, J.: A role for a PDZ protein in the early secretory pathway for the targeting of proTGF-alpha to the cell surface. Molec. Cell 3: 423-433, 1999.
[0014915]5503.Fowler, K. J.; Mann, G. B.; Dunn, A. R.: Linkage of the murine transforming growth factor-alpha gene with Igk, Ly-2, and Fabp1 on chromosome 6. Genomics 16: 782-784, 1993.
[0014916]5504.Tam, J. P.; Scheikh, M. A.; Solomon, D. S.; Ossowski, L.: Efficient synthesis of human type alpha transforming growth factor: its physical and biological characterization. Proc. Nat. Acad. Sci. 83: 8082-8086, 1986.
[0014917]5505.Tricoli, J. V.; Nakai, H.; Byers, M. G.; Rall, L. B.; Bell, G. I.; Shows, T. B.: Assignment of the gene coding for human TGF-alpha to chromosome 2p13. (Abstract) Cytogenet. Cell Genet. 40: 762 only, 1985.
[0014918]5506.Tricoli, J. V.; Nakai, H.; Byers, M. G.; Rall, L. B.; Bell, G. I.; Shows, T. B.: The gene for human transforming growth factor alpha is on the short arm of chromosome 2. Cytogenet. Cell Genet. 42: 94-98, 1986.
[0014919]5507.Awad, M. R.; El-Gamel, A.; Hasleton, P.; Turner, D. M.; Sinnott, P. J.; Hutchinson, I. V.: Genotypic variation in the transforming growth factor-beta-1 gene: association with transforming growth factor-beta-1 production, fibrotic lung disease, and graft fibrosis after lung transplantation. Transplantation 66: 1014-1020, 1998.
[0014920]5508.Azar, S. T.; Salti, I.; Zantout, M. S.; Major, S.: Alterations in plasma transforming growth factor beta in normoalbuminuric type 1 and type 2 diabetic patients. J. Clin. Endocr. Metab. 85: 4680-4682, 2000.
[0014921]5509.Bernasconi, P.; Torchiana, E.; Confalonieri, P.; Brugnoni, R.; Barresi, R.; Mora, M.; Conelio, F.; Morandi, L.; Mantegazza, R.: Expression of transforming growth factor-beta-1 in dystrophic patient muscles correlates with fibrosis: pathogenetic role of a fibrogenic cytokine. J. Clin. Invest. 96: 1137-1144, 1995.
[0014922]5510.Blobe, G. C.; Schiemann, W. P.; Lodish, H. F.: Role of transforming growth factor beta in human disease. New Eng. J. Med. 342: 1350-1358, 2000.
[0014923]5511.Border, W. A.; Noble, N. A.: Transforming growth factor beta in tissue fibrosis. New Eng. J. Med. 331: 1286-1292, 1994.
[0014924]5512.Border, W. A.; Noble, N. A.: Fibrosis linked to TGF-beta in yet another disease. (Editorial) J. Clin. Invest. 96: 655-656, 1995.
[0014925]5513.Clouthier, D. E.; Comerford, S. A.; Hammer, R. E.: Hepatic fibrosis, glomerulosclerosis, and lipodystrophy-like PEPCK-TGF-beta-1 transgenic mice. J. Clin. Invest. 100: 2697-2713, 1997.
[0014926]5514.Crawford, S. E.; Stellmach, V.; Murphy-Ullrich, J. E.; Ribeiro, S. M. F.; Lawler, J.; Hynes, R. O.; Boivin, G. P.; Bouck, N.: Thrombospondin-1 is a major activator of TGF-beta-1 in vivo. Cell 93: 1159-1170, 1998.
[0014927]5515.Derynck, R.; Akhurst, R. J.; Balmain, A.: TGF-beta signaling in tumor suppression and cancer progression. Nature Genet. 29: 117-129, 2001. Note: Erratum: Nature Genet. 29: 351 only, 2001.
[0014928]5516.Derynck, R.; Jarrett, J. A.; Chen, E. Y.; Eaton, D. H.; Bell, J. R.; Assoian, R. K.; Roberts, A. B.; Sporn, M. B.; Goeddel, D. V. : Human transforming growth factor-beta complementary DNA sequence and expression in normal and transformed cells. Nature 316: 701-705, 1985.
[0014929]5517.Dong, C.; Zhu, S.; Wang, T.; Yoon, W.; Li, Z.; Alvarez, R. J.; ten Dijke, P.; White, B.; Wigley, F. M.; Goldschmidt-Clermont, P. J.: Deficient Smad7 expression: a putative molecular defect in scleroderma. Pr oc. Nat. Acad. Sci. 99: 3908-3913, 2002.
[0014930]5518.Dubois, C. M.; Laprise, M.-H.; Blanchette, F.; Gentry, L. E.; Leduc, R.: Processing of transforming growth factor beta-1 precursor by human furin convertase. J. Biol. Chem. 270: 10618-10624, 1995.
[0014931]5519.Fujii, D.; Brissenden, J. E.; Derynck, R.; Francke, U.: Transforming growth factor beta gene maps to human chromosome 19 long arm and to mouse chromosome 7. Somat. Cell Molec. Genet. 12: 281-288, 1986.
[0014932]5520.Fujii, D. M.; Brissenden, J. E.; Derynck, R.; Francke, U.: Transforming growth factor beta gene (TGFB) maps to human chromosome 19. (Abstract) Cytogenet. Cell Genet. 40: 632, 1985.
[0014933]5521.Grainger, D. J.; Heathcote, K.; Chiano, M.; Snieder, H.; Kemp, P. R.; Metcalfe, J. C.; Carter, N. D.; Spector, T. D.: Genetic control of the circulating concentration of transforming growth factor type beta-1. Hum. Molec. Genet. 8: 93-97, 1999.
[0014934]5522.Dickinson, M. E.; Kobrin, M. S.; Silan, C. M.; Kingsley, D. M.; Justice, M. J.; Miller, D. A.; Ceci, J. D.; Lock, L. F.; Lee, A.; Buchberg, A. M.; Siracusa, L. D.; Lyons, K. M.; Derynck, R.; Hogan, B. L. M.; Copeland, N. G.; Jenkins, N. A.: Chromosomal localization of seven members of the murine TGF-beta superfamily suggests close linkage to several morphogenetic mutant loci. Genomics 6: 505-520, 1990.
[0014935]5523.Heldin, C.-H.; Miyazono, K.; ten Dijke, P.: TGF-beta signalling from cell membrane to nucleus through SMAD proteins. Nature 390: 465-471, 1997.
[0014936]5524.Thomas, S. A.; Matsumoto, A. M.; Palmiter, R. D.: Noradrenaline is essential for mouse fetal development. Nature 374: 643-646, 1995.
[0014937]5525.Drebin, J. A.; Hartzell, S. W.; Griffin, C.; Campbell, M. J.; Niederhuber, J. E.: Molecular cloning and chromosomal localization of the human homologue of a B-lymphocyte specific protein tyrosine kinase (blk). Oncogene 10: 477-486, 1995.
[0014938]5526.Dymecki, S.; Niederhuber, J.; Desiderio, S.: Specific expression of a novel tyrosine kinase gene, Blk, in B lymphoid cells. Science 247: 332-336, 1990.
[0014939]5527.Islam, K. B.; Rabbani, H.; Larsson, C.; Sanders, R.; Smith, C. I. E.: Molecular cloning, characterization, and chromosomal localization of a human lymphoid tyrosine kinase related to murine Blk. J. Immun. 154: 1265-1272, 1995.
[0014940]5528.Kozak, C. A.; Dymecki, S. M.; Niederhuber, J. E.; Desiderio, S. V.: Genetic mapping of the gene for a novel tyrosine kinase, Blk, to mouse chromosome 14. Genomics 9: 762-764, 1991.
[0014941]5529.Aiello, L. P.; Pierce, E. A.; Foley, E. D.; Takagi, H.; Chen, H.; Riddle, L.; Ferrara, N.; King, G. L.; Smith, L. E. H.: Suppression of retinal neovascularization in vivo by inhibition of vascular endothelial growth factor (VEGF) using soluble VEGF-receptor chimeric proteins. Proc. Nat. Acad. Sci. 92: 10457-10461, 1995.
[0014942]5530.Kikuchi, S.; Hata, M.; Fukumoto, K.; Yamane, Y.; Matsui, T.; Tamura, A.; Yonemura, S.; Yamagishi, H.; Keppler, D.; Tsukita, S.; Tsukita, S.: Radixin deficiency causes conjugated hyperbilirubinemia with loss of Mrp2 from bile canalicular membranes. Nature Genet. 31: 320-325, 2002.
[0014943]5531.Wilgenbus, K. K.; Milatovich, A.; Francke, U.; Furthmayr, H.: Molecular cloning, cDNA sequence, and chromosomal assignment of the human radixin gene and two dispersed pseudogenes. Genomics 16: 199-206, 1993.
[0014944]5532.Geppert, M.; Goda, Y.; Stevens, C. F.; Sudhof, T. C.: The small GTP-binding protein Rab3A regulates a late step in synaptic vesicle fusion. Nature 387: 810-814, 1997.
[0014945]5533.Kapfhamer, D.; Valladares, O.; Sun, Y.; Nolan, P. M.; Rux, J. J.; Arnold, S. E.; Veasey, S. C.; Bucan, M.: Mutations in Rab3a alter circadian period and homeostatic response to sleep loss in the mouse. Nature Genet. 32: 290-295, 2002.
[0014946]5534.Rousseau-Merck, M. F.; Zahraoui, A.; Bernheim, A.; Touchot, N.; Miglierina, R.; Tavitian, A.; Berger, R.: Chromosome mapping of the human RAS related RAB3A and RAB3B genes to chromosomes 19p13.2 and 1p31-p32, respectively. (Abstract) Cytogenet. Cell Genet. 51: 1070 only, 1989.
[0014947]5535.Rousseau-Merck, M. F.; Zahraoui, A.; Bernheim, A.; Touchot, N.; Miglierina, R.; Tavitian, A.; Berger, R.: Chromosome mapping of the human RAS-related RAB3A gene to 19p13.2. Genomics 5: 694-698, 1989.
[0014948]5536.Zahraoui, A.; Touchot, N.; Chardin, P.; Tavitian, A.: The human rab genes encode a family of GTP-binding proteins related to yeast YPT1 and SEC4 products involved in secretion. J. Biol. Chem. 264: 12394-12401, 1989.
[0014949]5537.Hussey, D. J.; Nicola, M.; Moore, S.; Peters, G. B.; Dobrovic, A.: The (4;11)(q21;p15) translocation fuses the NUP98 and RAP1GDS1 genes and is recurrent in T-cell acute lymphocytic leukemia. Blood 94: 2072-2079, 1999.
[0014950]5538.Cheng, G.-X.; Zhu, X.-H.; Men, X.-Q.; Wang, L.; Huang, Q.-H.; Jin, X. L.; Xiong, S.-M.; Zhu, J.; Guo, W.-M.; Chen, J.-Q.; Xu, S.-F.; So, E.; Chan, L.-C.; Waxman, S.; Zelent, A.; Chen, G.-Q.; Dong, S.; Liu, J.-X.; Chen, S.-J.: Distinct leukemia phenotypes in transgenic mice and different corepressor interactions generated by promyelocytic leukemia variant fusion genes PLZF-RAR-alpha and NPM-RAR-alpha. Proc. Nat. Acad. Sci. 96: 6318-6323, 1999.
[0014951]5539.de The, H.; Chomienne, C.; Lanotte, M.; Degos, L.; Dejean, A. : The t(15;17) translocation of acute promyelocytic leukaemia fuses the retinoic acid receptor alpha gene to a novel transcribed locus. Nature 347: 558-561, 1990.
[0014952]5540.Germain, P.; Iyer, J.; Zechel, C.; Gronemeyer, H.: Co-regulator recruitment and the mechanism of retinoic acid receptor synergy. Nature 415: 187-192, 2002.
[0014953]5541.Giguere, V.; Ong, E. S.; Segui, P.; Evans, R. M.: Identification of a receptor for the morphogen retinoic acid. Nature 330: 624-629, 1987.
[0014954]5542.He, L.-Z.; Bhaumik, M.; Tribioli, C.; Rego, E. M.; Ivins, S.; Zelent, A.; Pandolfi, P. P.: Two critical hits for promyelocytic leukemia. Molec. Cell 6: 1131-1141, 2000.
[0014955]5543.Hiorns, L. R.; Min, T.; Swansbury, G. J.; Zelent, A.; Dyer, M. J. S.; Catovsky, D.: Interstitial insertion of retinoic acid receptor-alpha gene in acute promyelocytic leukemia with normal chromosomes 15 and 17. Blood 83: 2946-2951, 1994.
[0014956]5544.Hjalt, T. A. H.; Murray, J. C.: Genomic structure of the human retinoic acid receptoralpha-1 gene. Mammalian Genome 10: 528-259, 1999.
[0014957]5545.Kanno, K.; Suzuki, Y.; Yang, X.; Yamada, A.; Aoki, Y.; Kure, S.; Matsubara, Y.: Lack of evidence for a significant association between nonsyndromic cleft lip with or without cleft palate and the retinoic acid receptor alpha gene in the Japanese population. J. Hum. Genet. 47: 269-274, 2002.
[0014958]5546.Lemons, R. S.; Eilender, D.; Waldmann, R. A.; Rebentisch, M.; Frej, A.-K.; Ledbetter, D. H.; Willman, C.; McConnell, T.; O'Connell, P.: Cloning and characterization of the t(15;17) translocation breakpoint region in acute promyelocytic leukemia. Genes Chromosomes Cancer 2: 79-87, 1990.
[0014959]5547.Lin, R. J.; Evans, R. M.: Acquisition of oncogenic potential by RAR chimeras in acute promyelocytic leukemia through formation of homodimers. Molec. Cell 5: 821-830, 2000.
[0014960]5548.Mattei, M.-G.; Petkovich, M.; Mattei, J.-F.; Brand, N.; Chambon, P.: Mapping of the human retinoic acid receptor to the q21 band of chromosome 17. Hum. Genet. 80: 186-188, 1988.
[0014961]5549.McNamara, P.; Seo, S.; Rudic, R. D.; Sehgal, A.; Chakravarti, D.; FitzGerald, G. A.: Regulation of CLOCK and MOP4 by nuclear hormone receptors in the vasculature: a humoral mechanism to reset a peripheral clock. Cell 105: 877-889, 2001.
[0014962]5550.Pandolfi, P. P.: Oncogenes and tumor suppressors in the molecular pathogenesis of acute promyelocytic leukemia. Hum. Molec. Genet. 10: 769-775, 2001.
[0014963]5551.Petkovich, M.; Brand, N. J.; Krust, A.; Chambon, P.: A human retinoic acid receptor which belongs to the family of nuclear receptors. Nature 330: 444-450, 1987.
[0014964]5552.Rassool, F.; Martiat, P.; Klisak, I.; Taj, A.; Goldman, J.: Interstitial insertion of varying amounts of ABL-containing genetic material into chromosome 22 in Ph-negative CML. Leukemia 4: 273-277, 1990.
[0014965]5553.Robertson, M.: Retinoic acid receptor: towards a biochemistry of morphogenesis. Nature 330: 420-421, 1987.
[0014966]5554.Zelent, A.; Guidez, F.; Melnick, A.; Waxman, S.; Licht, J. D. : Translocations of the RAR-alpha gene in acute promyelocytic leukemia. Oncogene 20: 7186-7203, 2001.
[0014967]5555.Almasan, A.; Mangelsdorf, D. J.; Ong, E. S.; Wahl, G. M.; Evans, R. M.: Chromosomal localization of the human retinoid X receptors. Genomics 20: 397-403, 1994.
[0014968]5556.Claudel, T.; Leibowitz, M. D.; Fievet, C.; Tailleux, A.; Wagner, B.; Repa, J. J.; Torpier, G.; Lobaccaro, J.-M.; Paterniti, J. R.; Mangelsdorf, D. J.; Heyman, R. A.; Auwerx, J.: Reduction of atherosclerosis in apolipoprotein E knockout mice by activation of the retinoid X receptor. Proc. Nat. Acad. Sci. 98: 2610-2615, 2001.
[0014969]5557.de Urquiza, A. M.; Liu, S.; Sjoberg, M.; Zetterstrom, R. H.; Griffiths, W.; Sjovall, J.; Perlmann, T.: Docosahexaenoic acid, a ligand for the retinoid X receptor in mouse brain. Science 290: 2140-2144, 2000.
[0014970]5558.Thomas, G. D.; Sander, M.; Lau, K. S.; Huang, P. L.; Stull, J. T.; Victor, R. G.: Impaired metabolic modulation of alpha-adrenergic vasoconstriction in dystrophin-deficient skeletal muscle. Proc. Nat. Acad. Sci. 95: 15090-15095, 1998.
[0014971]5559.Xie, J.; Roddy, P.; Rife, T. K.; Murad, F.; Young, A. P.: Two closely linked but separable promoters for human neuronal nitric oxide synthase gene transcription. Proc. Nat. Acad. Sci. 92: 1242-1246, 1995.
[0014972]5560.Xu, W.; Gorman, P.; Sheer, D.; Bates, G.; Kishimoto, J.; Lizhi, L.; Emson, P.: Regional localization of the gene coding for human brain nitric oxide synthase (NOS1) to 12q24.2-24.31 by fluorescent in situ hybridization. Cytogenet. Cell Genet. 64: 62-63, 1993.
[0014973]5561.Abeliovich, A.; Schmitz, Y.; Farinas, I.; Choi-Lundberg, D.; Ho, W.-H.; Castillo, P. E.; Shinsky, N.; Verdugo, J. M. G.; Armanini, M.; Ryan, A.; Hynes, M.; Phillips, H.; Sulzer, D.; Rosenthal, A.: Mice lacking alpha-synuclein display functional deficits in the nigrostriatal dopamine system. Neuron 25: 239-252, 2000.
[0014974]5562.Teyssier, J. R.; Henry, I.; Dozier, C.; Ferre, D.; Adnet, J. J.; Pluot, M.: Recurrent deletion of the short arm of chromosome 3 in human renal cell carcinoma: shift of the c-raf 1 locus. J. Nat. Cancer Inst. 77: 1187-1191, 1986.
[0014975]5563.Taniyama, T.; Takai, S.; Miyazaki, E.; Fukumura, R.; Sato, J.; Kobayashi, Y.; Hirakawa, T.; Moore, K. W.; Yamada, K.: The human interleukin-10 receptor gene maps to chromosome 11q23.3. Hum. Genet. 95: 99-101, 1995.
[0014976]5564.Bono, M. R.; Alcaide-Loridan, C.; Couillin, P.; Letouze, B.; Grisard, M. C.; Jouin, H.; Fellous, M.: Human chromosome 16 encodes a factor involved in induction of class II major histocompatibility antigens by interferon gamma. Proc. Nat. Acad. Sci. 88: 6077-6081, 1991.
[0014977]5565.Bono, R.; Hatat, D.; Couillin, P.; Grisard, M. C.; Van Cong, N.; Fisher, D.; Fellous, M.: Receptor for human gamma interferon is specified by human chromosomes 6 and 21. (Abstract) Cytogenet. Cell Genet. 46: 584, 1987.
[0014978]5566.Dorman, S. E.; Holland, S. M.: Mutation in the signal-transducing chain of the interferon-gamma receptor and susceptibility to mycobacterial infection. J. Clin. Invest. 101: 2364-2369, 1998.
[0014979]5567.Jung, V.; Rashidbaigi, A.; Jones, C.; Tischfield, J. A.; Shows, T. B.; Pestka, S.: Human chromosomes 6 and 21 are required for sensitivity to human interferon gamma. Proc. Nat. Acad. Sci. 84: 4151-4155, 1987.
[0014980]5568.Langer, J. A.; Rashidbaigi, A.; Lai, L.-W.; Patterson, D.; Jones, C.: Sublocalization on chromosome 21 of human interferon-alpha receptor gene and the gene for an interferon-gamma response protein. Somat. Cell Molec. Genet. 16: 231-240, 1990.
[0014981]5569.Mariano, T. M.; Muthukumaran, G.; Donnelly, R. J.; Wang, N.; Adamson, M. C.; Pestka, S.; Kozak, C. A.: Genetic mapping of the gene for the mouse interferon-gamma receptor signaling subunit to the distal end of chromosome 16. Mammalian Genome 7: 321-322, 1996.
[0014982]5570.Rhee, S.; Ebensperger, C.; Dembic, Z.; Pestka, S.: The structure of the gene for the second chain of the human interferon-gamma receptor. J. Biol. Chem. 271: 28947-28952, 1996.
[0014983]5571.Soh, J.; Donnelly, R. J.; Mariano, T. M.; Cook, J. R.; Schwartz, B.; Pestka, S.: Identification of a yeast artificial chromosome clone encoding an accessory factor for the human interferon gamma receptor: evidence for multiple accessory factors. Proc. Nat. Acad. Sci. 90: 8737-8741, 1993.
[0014984]5572.Badovinac, V. P.; Tvinnereim, A. R.; Harty, J. T.: Regulation of antigen-specific CD8(+) T cell homeostasis by perforin and interferon-gamma. Science 290: 1354-1357, 2000.
[0014985]5573.Ben-Asouli, Y.; Banai, Y.; Pel-Or, Y.; Shir, A.; Kaempfer, R.: Human interferongamma mRNA autoregulates its translation through a pseudoknot that activates the interferon-inducible protein kinase PKR. Cell 108: 221-232, 2002.
[0014986]5574.Binder, G. K.; Griffin, D. E.: Interferon-gamma-mediated site-specific clearance of alphavirus from CNS neurons. Science 293: 303-306, 2001.
[0014987]5575.Blalock, J. E.; Smith, E. M.: Human leukocyte interferon: structural and biological relatedness to adrenocorticotropic hormone and endorphins. Proc. Nat. Acad. Sci. 77: 5972-5974, 1980.
[0014988]5576.Bureau, J. F.; Bihl, F.; Brahic, M.; Le Paslier, D.: The gene coding for interferon-gamma is linked to the D12S335 and D12S313 microsatellites and to the MDM2 gene. Genomics 28: 109-112, 1995.
[0014989]5577.Burke, D. C.: The status of interferon. Sci. Am. 236(4): 42-50, 1977.
[0014990]5578.Cassingena, R.; Chany, C.; Vignal, M.; Suarex, H.; Estrade, S.; Lazar, P.: Use of monkey-mouse hybrid cells for the study of the cellular regulation of interferon production and action. Proc. Nat. Acad. Sci. 68: 580-584, 1971.
[0014991]5579.Creagan, R. P.; Tan, Y. H.; Chen, S.-H.; Ruddle, F. H.: Somatic cell genetic analysis of the interferon system. Fed. Proc. 34: 2222-2226, 1975.
[0014992]5580.Devos, R.; Cheroutre, H.; Taya, Y.; Degrave, W.; Van Heuverswyn, H.; Fiers, W.: Molecular cloning of human immune interferon cDNA and its expression in eukaryotic cells. Nucleic Acids Res. 10: 2487-2502, 1982.
[0014993]5581.Diaz, M. O.; Bohlander, S.; Allen, G.: Nomenclature of the human interferon genes. J. Interferon Res. 13: 443-444, 1993.
[0014994]5582.Diefenbach, A.; Schindler, H.; Rollinghoff, M.; Yokoyama, W. M.; Bogdan, C.: Requirement for type 2 NO synthase for IL-12 signaling in innate immunity. Science 284: 951-955, 1999.
[0014995]5583.Gray, P. W.; Goeddel, D. V.: Structure of the human immune interferon gene. Nature 298: 859-863, 1982.
[0014996]5584.Isaacs, A.; Lindenmann, J.: Virus interference. I. The interferon. Proc. Roy. Soc. London 147B: 258-267, 1957.
[0014997]5585.Isaacs, A.; Lindenmann, J.; Valentine, R. C.: Virus interference. II. Some properties of interferon. Proc. Roy. Soc. London 147B: 268-273, 1957.
[0014998]5586.Knight, E., Jr.: Human fibroblast interferon: amino acid analysis and amino terminal amino acid sequence. Science 207: 525-526, 1980.
[0014999]5587.Lipinski, M.; Virelizier, J. L.; Tursz, T.; Griscelli, C.: Natural killer and killer cell activities in patients with primary immunodeficiencies or defects in immune interferon production. Europ. J. Immun. 10: 246-249, 1980.
[0015000]5588.Maeda, S.; McCandliss, R.; Gross, M.; Sloma, A.; Familletti, P. C.; Tabor, J. M.; Evinger, M.; Levy, W. P.; Pestka, S.: Construction and identification of bacterial plasmids containing nucleotide sequence for human leukocyte interferon. Proc. Nat. Acad. Sci. 77: 7010-7013, 1980.
[0015001]5589.Mantei, N.; Schwarzstein, M.; Streuli, M.; Panem, S.; Nagata, S.; Weissmann, C.: The nucleotide sequence of a cloned human leukocyte interferon cDNA. Gene 10: 1-10, 1980.
[0015002]5590.Nagata, S.; Mantei, N.; Weissmann, C.: The structure of one of the eight or more distinct chromosomal genes for human interferon-alpha. Nature 287: 401-408, 1980.
[0015003]5591.Nagata, S.; Taira, H.; Hall, A.; Johnstrud, L.; Streuli, M.; Escodi, J.; Boll, W.; Cantell, K.; Weissmann, C.: Synthesis in E. coli of a polypeptide with human leukocyte interferon activity. Nature 284: 316-320, 1980.
[0015004]5592.Nathan, C. F.; Murray, H. W.; Wiebe, M. E.; Rubin, B. Y.: Identification of interferongamma as the lymphokine that activates human macrophage oxidative metabolism and antimicrobial activity. J. Exp. Med. 158: 670-689, 1983.
[0015005]5593.Naylor, S. L.; Sakaguchi, A. Y.; Shows, T. B.; Law, M. L.; Goeddel, D. V.; Gray, P. W.: Human immune interferon gene is located on chromosome 12. J. Exp. Med. 57: 1020-1027, 1983.
[0015006]5594.Shimizu, A.; Sakai, Y.; Ohno, K.; Masaki, S.; Kuwano, R.; Takahashi, Y.; Miyashita, N.; Watanabe, T.: A molecular genetic linkage map of mouse chromosome 10, including the Myb, S100b, Pah, Sl, and Ifg genes. Biochem. Genet. 30: 529-535, 1992.
[0015007]5595.Bader, B. L.; Jahn, L.; Franke, W. W.: Low level expression of cytokeratins 8, 18 and 19 in vascular smooth muscle cells of human umbilical cord and in cultured cells derived therefrom, with an analysis of the chromosomal locus containing the cytokeratin 19 gene. Europ. J. Cell Biol. 47: 300-319, 1988.
[0015008]5596.Bader, B. L.; Magin, T. M.; Hatzfield, M.; Franke, W. W.: Amino acid sequence and gene organization of cytokeratin no. 19, an exceptional tail-less intermediate filament protein. EMBO J. 5: 1865-1875, 1986.
[0015009]5597.Blumenberg, M.: Concerted gene duplications in the two keratin gene families. J. Molec. Evol. 27: 203-211, 1988.
[0015010]5598.Ceratto, N.; Dobkin, C.; Carter, M.; Jenkins, E.; Yao, X.-L.; Cassiman, J.-J.; Aly, M. S.; Bosco, P.; Leube, R.; Langbein, L.; Feo, S.; Romano, V.: Human type I cytokeratin genes are a compact cluster. Cytogenet. Cell Genet. 77: 169-174, 1997.
[0015011]5599.Eckert, R. L.: Sequence of the human 40-kDa keratin reveals an unusual structure with very high sequence identity to the corresponding bovine keratin. Proc. Nat. Acad. Sci. 85: 1114-1118, 1988.
[0015012]5600.Lussier, M.; Filion, M.; Compton, J. G.; Nadeau, J. H.; Lapointe, L.; Royal, A.: The mouse keratin 19-encoding gene: sequence, structure and chromosomal assignment. Gene 95: 203-213, 1990.
[0015013]5601.Savtchenko, E. S.; Schiff, T. A.; Jiang, C.-K.; Freedberg, I. M.; Blumenberg, M.: Embryonic expression of the human 40-kD keratin: evidence from a processed pseudogene sequence. Am. J. Hum. Genet. 43: 630-637, 1988.
[0015014]5602.Stasiak, P. C.; Lane, E. B.: Sequence of cDNA coding for human keratin #19. Nucleic Acids Res. 15: 10058 only, 1987.
[0015015]5603.Blumenberg, M.; Savtchenko, E. S.: Linkage of human keratin genes. Cytogenet. Cell Genet. 42: 65-71, 1986.
[0015016]5604.Fuchs, E.; Coppock, S.; Green, H.; Cleveland, D.: Two distinct classes of keratin genes and their evolutionary significance. Cell 27: 75-84, 1981.
[0015017]5605.Fuchs, E.; Green, H.: Changes in keratin gene expression during terminal differentiation of the keratinocyte. Cell 19: 1033-1042, 1980.
[0015018]5606.Hanukoglu, I.; Fuchs, E.: The cDNA sequence of a human epidermal keratin: divergence of sequence but conservation of structure among intermediate filament proteins. Cell 31: 243-252, 1982.
[0015019]5607.Lee, L. D.; Baden, H. P.: Organisation of the polypeptide chains in mammalian keratin. Nature 264: 377-379, 1976.
[0015020]5608.Marchuk, D.; McCrohon, S.; Fuchs, E.: Complete sequence of a gene encoding a human type I keratin: sequences homologous to enhancer elements in the regulatory region of the gene. Proc. Nat. Acad. Sci. 82: 1609-1613, 1985.
[0015021]5609.Nadeau, J. H.; Berger, F. G.; Cox, D. R.; Crosby, J. L.; Davisson, M. T.; Ferrara, D.; Fuchs, E.; Hart, C.; Hunihan, L.; Lalley, P. A.; Langley, S. H.; Martin, G. R.; Nichols, L.; Phillips, S. J.; Roderick, T. H.; Roop, D. R.; Ruddle, F. H.; Skow, L. C.; Compton, J. G.: A family of type I keratin genes and the homeobox-2 gene complex are closely linked to the rex locus on mouse chromosome 11. Genomics 5: 454-462, 1989.
[0015022]5610.RayChaudhury, A.; Marchuk, D.; Lindhurst, M.; Fuchs, E.: Three tightly linked genes encoding human type I keratins: conservation of sequence in the 5-prime-untranslated leader and 5-primeupstream regions of coexpressed keratin genes. Molec. Cell. Biol. 6: 539-548, 1986.
[0015023]5611.Romano, V.; Bosco, P.; Raimondi, E.; Feo, S.; Leube, R.; Franke, W.; Ceratto, N.: Chromosomal mapping and physical linkage analysis of human acidic cytokeratin genes. (Abstract) Cytogenet. Cell Genet. 58: 2009-2010, 1991.
[0015024]5612.Heim, S.; Nilbert, M.; Vanni, R.; Floderus, U.-M.; Mandahl, N.; Liedgren, S.; Lecca, U.; Mitelman, F.: A specific translocation, t(12;14)(q14-15;q23-24), characterizes a subgroup of uterine leiomyomas. Cancer Genet. Cytogenet. 32: 13-17, 1988.
[0015025]5613.Minucci, S.; Maccarana, M.; Cioce, M.; De Luca, P.; Gelmetti, V.; Segalla, S.; Di Croce, L.; Giavara, S.; Matteucci, C.; Gobbi, A.; Bianchini, A.; Colombo, E.; Schiavoni, I.; Badaracco, G.; Hu, X.; Lazar, M. A.; Landsberger, N.; Nervi, C.; Pelicci, P. G.: Oligomerization of RAR and AML1 transcription factors as a novel mechanism of oncogenic activation. Molec. Cell 5: 811-820, 2000.
[0015026]5614.Nucifora, G.; Begy, C. R.; Kobayashi, H.; Roulston, D.; Claxton, D.; Pedersen-Bjergaard, J.; Parganas, E.; Ihle, J. N.; Rowley, J. D.: Consistent intergenic splicing and production of multiple transcripts between AML1 at 21q22 and unrelated genes at 3q26 in (3;21)(q26;q22) translocations. Proc. Nat. Acad. Sci. 91: 4004-4008, 1994.
[0015027]5615.Nucifora, G.; Rowley, J. D.: AML1 and the 8;21 and 3;21 translocations in acute and chronic myeloid leukemia. Blood 86: 1-14, 1995.
[0015028]5616.Okuda, T.; Takeda, K.; Fujita, Y.; Nishimura, M.; Yagyu, S.; Yoshida, M.; Akira, S.; Downing, J. R.; Abe, T.: Biological characteristics of the leukemia-associated transcriptional factor AML1 disclosed by hematopoietic rescue of AML1-deficient embryonic stem cells by using a knock-in strategy. Molec. Cell. Biol. 20: 319-328, 2000.
[0015029]5617.Okuda, T.; van Deursen, J.; Hiebert, S. W.; Grosveld, G.; Downing, J. R.: AML1, the target of multiple chromosomal translocations in human leukemia, is essential for normal fetal liver hematopoiesis. Cell 84: 321-330, 1996.
[0015030]5618.Osato, M.; Asou, N.; Abdalla, E.; Hoshino, K.; Yamasaki, H.; Okubo, T.; Suzushima, H.; Takatsuki, K.; Kanno, T.; Shigesada, K.; Ito, Y. : Biallelic and heterozygous point mutations in the runt domain of the AML1/PEBP2-alpha-B gene associated with myeloblastic leukemias. Blood 93: 1817-1824, 1999.
[0015031]5619.Pui, C.-H.: Childhood leukemias. New Eng. J. Med. 332: 1618-1630, 1995.
[0015032]5620.Rowley, J. D.: Recurring chromosome abnormalities in leukemia and lymphoma. Seminars Hemat. 27: 122-136, 1990.
[0015033]5621.Song, W.-J.; Sullivan, M. G.; Legare, R. D.; Hutchings, S.; Tan, X.; Kufrin, D.; Ratajczak, J.; Resende, I. C.; Haworth, C.; Hock, R.; Loh, M.; Felix, C.; and 12 others: Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nature Genet. 23: 166-175, 1999.
[0015034]5622.Walker, L. C.; Stevens, J.; Campbell, H.; Corbett, R.; Spearing, R.; Heaton, D.; Macdonald, D. H.; Morris, C. M.; Ganly, P.: A novel inherited mutation of the transcription factor RUNX1 causes thrombocytopenia and may predispose to acute myeloid leukaemia. Brit. J. Haemat. 117: 878-881, 2002.
[0015035]5623.Wang, Q.; Stacy, T.; Binder, M.; Marin-Padilla, M.; Sharpe, A. H.; Speck, N. A.: Disruption of the Cbfa2 gene causes necrosis and hemorrhaging in the central nervous system and blocks definitive hematopoiesis. Proc. Nat. Acad. Sci. 93: 3444-3449, 1996.
[0015036]5624.Zipursky, A.; Poon, A.; Doyle, J.: Leukemia in Down syndrome: a review. Pediat. Hemat. Oncol. 9: 139-149, 1992.
[0015037]5625.Erikson, J.; Williams, D. L.; Finan, J.; Nowell, P. C.; Croce, C. M.: Locus of the alphachain of the T-cell receptor is split by chromosome translocation in T-cell leukemias. Science 229: 784-786, 1985.
[0015038]5626.Das, R.; Reddy, E. P.; Chatterjee, D.; Andrews, D. W.: Identification of a novel Bcl-2 related gene, BRAG-1, in human glioma. Oncogene 12: 947-951, 1996. Note: Erratum: Oncogene 16: 429 only, 1998.
[0015039]5627.Deng, G.; Podack, E. R.: Suppression of apoptosis in a cytotoxic T-cell line by interleukin 2-mediated gene transcription and deregulated expression of the protooncogene bcl-2. Proc. Nat. Acad. Sci. 90: 2189-2193, 1993.
[0015040]5628.Barker, D.; Wright, E.; Nguyen, K.; Cannon, L.; Fain, P.; Goldgar, D.; Bishop, D. T.; Carey, J.; Baty, B.; Kivlin, J.; Willard, H.; Waye, J. S.; Greig, G.; Leinwand, L.; Nakamura, Y.; O'Connell, P.; Leppert, M.; Lalouel, J.-M.; White, R.; Skolnick, M.: Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17. Science 236: 1100-1102, 1987.
[0015041]5629.Costa, R. M.; Yang, T.; Huynh, D. P.; Pulst, S. M.; Viskochil, D. H.; Silva, A. J.; Brannan, C. I.: Learning deficits, but normal development and tumor predisposition, in mice lacking exon 23a of Nf1. Nature Genet. 27: 399-405, 2001.
[0015042]5630.Tan, M.; Jing, T.; Lan, K.-H.; Neal, C. L.; Li, P.; Lee, S.; Fang, D.; Nagata, Y.; Liu, J.; Arlinghaus, R.; Hung, M.-C.; Yu, D.: Phosphorylation on tyrosine-15 of p34(Cdc2) by ErbB2 inhibits p34(Cdc2) activation and is involved in resistance to taxol-induced apoptosis. Molec. Cell 9: 993-1004, 2002.
[0015043]5631.Gromeier, M.; Solecki, D.; Patel, D. D.; Wimmer, E.: Expression of the human poliovirus receptor/CD155 gene during development of the central nervous system: implications for the pathogenesis of poliomyelitis. Virology 273: 248-257, 2000.
[0015044]5632.He, Y.; Bowman, V. D.; Mueller, S.; Bator, C. M.; Bella, J.; Peng, X.; Baker, T. S.; Wimmer, E.; Kuhn, R. J.; Rossmann, M. G.: Interaction of the poliovirus receptor with poliovirus. Proc. Nat. Acad. Sci. 97: 79-84, 2000.
[0015045]5633.Koike, S.; Horie, H.; Ise, I.; Okitsu, A.; Yoshida, M.; Iizuka, N.; Takeuchi, K.; Takegami, T.; Nomoto, A.: The poliovirus receptor protein is produced both as membrane-bound and secreted forms. EMBO J. 9: 3217-3224, 1990.
[0015046]5634.Koike, S.; Taya, C.; Kurata, T.; Abe, S.; Ise, I.; Yonekawa, H.; Nomoto, A.: Transgenic mice susceptible to poliovirus. Proc. Nat. Acad. Sci. 88: 951-955, 1991.
[0015047]5635.Mendelsohn, C.; Johnson, B.; Lionetti, K. A.; Nobis, P.; Wimmer, E.; Racaniello, V. R.: Transformation of a human poliovirus receptor gene into mouse cells. Proc. Nat. Acad. Sci. 83: 7845-7849, 1986.
[0015048]5636.Mendelsohn, C. L.; Wimmer, E.; Racaniello, V. R.: Cellular receptor for poliovirus: molecular cloning, nucleotide sequence, and expression of a new member of the immunoglobulin superfamily. Cell 56: 855-865, 1989.
[0015049]5637.Miller, D. A.; Miller, O. J.; Dev, V. G.; Hashmi, S.; Tantravahi, R. R.; Medrano, L.; Green, H.: Human chromosome 19 carries a poliovirus receptor gene. Cell 1: 167-174, 1974.
[0015050]5638.Larrea, F.; Escorza, A.; Granados, J.; Valencia, X.; Valero, A.; Cravioto, M. C.; Perez-Palacios, G.: Familial occurrence of big-big prolactin as the predominant immunoreactive human prolactin species in blood. Fertil. Steril. 47: 956-963, 1987.
[0015051]5639.Michelson, A. M.; Bruns, G. A. P.; Morton, C. C.; Orkin, S. H. : The human phosphoglycerate kinase multigene family: HLA-associated sequences and an X-linked locus containing a processed pseudogene and its functional counterpart. J. Biol. Chem. 260: 6982-6992, 1985.
[0015052]5640.Singer-Sam, J.; Simmer, R. L.; Keith, D. H.; Shively, L.; Teplitz, M.; Itakura, K.; Gartler, S. M.; Riggs, A. D.: Isolation of a cDNA clone for human X-linked 3-phosphoglycerate kinase by use of a mixture of synthetic oligodeoxyribonucleotides as a detection probe. Proc. Nat. Acad. Sci. 80: 802-806, 1983.
[0015053]5641.Willard, H. F.; Goss, S. J.; Holmes, M. T.; Munroe, D. L.: Regional localization of the phosphoglycerate kinase gene and pseudogene on the human X chromosome and assignment of a related DNA sequence to chromosome 19. Hum. Genet. 71: 138-143, 1985.
[0015054]5642.Killian, J. M.; Kloepfer, H. W.: Homozygous expression of a dominant gene for Charcot-Marie-Tooth neuropathy. Ann. Neurol. 5: 515-522, 1979.
[0015055]5643.Lupski, J. R.; Montes de Oca-Luna, R.; Slaugenhaupt, S.; Pentao, L.; Guzzetta, V.; Trask, B. J.; Saucedo-Cardenas, O.; Barker, D. F.; Killian, J. M.; Garcia, C. A.; Chakravarti, A.; Patel, P. I.: DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66: 219-232, 1991.
[0015056]5644.Nelis, E.; Haites, N.; Van Broeckhoven, C.: Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies. Hum. Mutat. 13: 11-28, 1999.
[0015057]5645.Ouvrier, R. A.; McLeod, J. G.; Conchin, T. E.: The hypertrophic forms of hereditary motor and sensory neuropathy: a study of hypertrophic Charcot-Marie-Tooth disease (HMSN type I) and Dejerine-Sottas disease (HMSN type III) in childhood. Brain 110: 121-148, 1987.
[0015058]5646.Spicer, A. P.; Seldin, M. F.; Olsen, A. S.; Brown, N.; Wells, D. E.; Doggett, N. A.; Itano, N.; Kimata, K.; Inazawa, J.; McDonald, J. A.: Chromosomal localization of the human and mouse hyaluronan synthase genes. Genomics 41: 493-497, 1997.
[0015059]5647.Watanabe, K.; Yamaguchi, Y.: Molecular identification of a putative human hyaluronan synthase. J. Biol. Chem. 271: 22945-22948, 1996.
[0015060]5648.Cahill, D. P.; da Costa, L. T.; Carson-Walter, E. B.; Kinzler, K. W.; Vogelstein, B.; Lengauer, C.: Characterization of MAD2B and other mitotic spindle checkpoint genes. Genomics 58: 181-187, 1999.
[0015061]5649.Luo, X.; Tang, Z.; Rizo, J.; Yu, H.: The Mad2 spindle checkpoint protein undergoes similar major conformational changes upon binding to either Mad1 or Cdc20. Molec. Cell 9: 59-71, 2002.
[0015062]5650.Nelson, K. K.; Schlondorff, J.; Blobel, C. P.: Evidence for an interaction of the metalloprotease-disintegrin tumour necrosis factor alpha convertase (TACE) with mitotic arrest deficient 2 (MAD2), and of the metalloprotease-disintegrin MDC9 with a novel MAD2-related protein, MAD2-beta. Biochem. J. 343: 673-680, 1999.
[0015063]5651.Liu, Y.; Chiu, I.-M.: Assignment of FGF12, the human FGF homologous factor 1 gene, to chromosome 3q29-3qter by fluorescence in situ hybridization. Cytogenet. Cell Genet. 78: 48-49, 1997.
[0015064]5652.Caslini, C.; Spinelli, O.; Cazzaniga, G.; Golay, J.; De Gioia, L.; Pedretti, A.; Breviario, F.; Amaru, R.; Barbui, T.; Biondi, A.; Introna, M.; Rambaldi, A.: Identification of two novel isoforms of the ZNF162 gene: a growing family of signal transduction and activator of RNA proteins. Genomics 42: 268-277, 1997.
[0015065]5653.Kramer, A.; Quentin, M.; Mulhauser, F.: Diverse modes of alternative splicing of human splicing factor SF1 deduced from the exon-intron structure of the gene. Gene 211: 29-37, 1998.
[0015066]5654.Gong, Y.; Chitayat, D.; Kerr, B.; Chen, T.; Babul-Hirji, R.; Pal, A.; Reiss, M.; Warman, M. L.: Brachydactyly type B: clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation. Am. J. Hum. Genet. 64: 578-585, 1999.
[0015067]5655.Innis, J. W.; Mortlock, D. P.: Limb development: molecular dysmorphology is at hand! Clin. Genet. 53: 337-348, 1998.
[0015068]5656.Manouvrier-Hanu, S.; Holder-Espinasse, M.; Lyonnet, S.: Genetics of limb anomalies in humans. Trends Genet. 15: 409-417, 1999.
[0015069]5657.Oishi, I.; Takeuchi, S.; Hashimoto, R.; Nagabukuro, A.; Ueda, T.; Liu, Z.-J.; Hatta, T.; Akira, S.; Matsuda, Y.; Yamamura, H.; Otani, H.; Minami, Y.: Spatio-temporally regulated expression of receptor tyrosine kinases, mRor1, mRor2, during mouse development: implications in development and function of the nervous system. Genes Cells 4: 41-56, 1999.
[0015070]5658.Schwabe, G. C.; Tinschert, S.; Buschow, C.; Meinecke, P.; Wolff, G.; Gillessen-Kaesbach, G.; Oldridge, M.; Wilkie, A. O. M.; Komec, R.; Mundlos, S.: Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B. Am. J. Hum. Genet. 67: 822-831, 2000.
[0015071]5659.Takeuchi, S.; Takeda, K.; Oishi, I.; Nomi, M.; Ikeya, M.; Itoh, K.; Tamura, S.; Ueda, T.; Hatta, T.; Otani, H.; Terashima, T.; Takada, S.; Yamamura, H.; Akira, S.; Minami, Y.: Mouse Ror2 receptor tyrosine kinase is required for the heart development and limb formation. Genes Cells 5: 71-78, 2000.
[0015072]5660.van Bokhoven, H.; Brunner, H. G.: Splitting p63. Am. J. Hum. Genet. 71: 1-13, 2002.
[0015073]5661.Jaffrey, S. R.; Snyder, S. H.: PIN: an associated protein inhibitor of neuronal nitric oxide synthase. Science 274: 774-777, 1996.
[0015074]5662.Garkavtsev, I.; Demetrick, D.; Riabowol, K.: Cellular localization and chromosome mapping of a novel candidate tumor suppressor gene (ING1). Cytogenet. Cell Genet. 76: 176-178, 1997.
[0015075]5663.Garkavtsev, I.; Kazarov, A.; Gudkov, A.; Riabowol, K.: Suppression of the novel growth inhibitor p33(ING1) promotes neoplastic transformation. Nature Genet. 14: 415-420, 1996. Note: Erratum: Nature Genet. 23: 373 only, 1999.
[0015076]5664.Saito, A.; Furukawa, T.; Fukushige, S.; Koyama, S.; Hoshi, M.; Hayashi, Y.; Horii, A.: p24/ING1-ALT1 and p47/ING1-ALT2, distinct alternative transcripts of p33/ING1. J. Hum. Genet. 45: 177-181, 2000.
[0015077]5665.Zeremski, M.; Horrigan, S. K.; Grigorian, I. A.; Westbrook, C. A.; Gudkov, A. V.: Localization of the candidate tumor suppressor gene ING1 to human chromosome 13q34. Somat. Cell Molec. Genet. 23: 233-236, 1997.
[0015078]5666.Gilligan, D. M.; Lozovatsky, L.; Gwynn, B.; Brugnara, C.; Mohandas, N.; Peters, L. L.: Targeted disruption of the beta adducin gene (Add2) causes red blood cell spherocytosis in mice. Proc. Nat. Acad. Sci. 96: 10717-10722, 1999.
[0015079]5667.Katagiri, T.; Ozaki, K.; Fujiwara, T.; Shimizu, F.; Kawai, A.; Okuno, S.; Suzuki, M.; Nakamura, Y.; Takahashi, E.; Hirai, Y.: Cloning, expression and chromosome mapping of adducin-like 70 (ADDL), a human cDNA highly homologous to human erythrocyte adducin. Cytogenet. Cell Genet. 74: 90-95, 1996.
[0015080]5668.Adamson, M. C.; Dennis, C.; Delaney, S.; Christiansen, J.; Monkley, S.; Kozak, C. A.; Wainwright, B.: Isolation and genetic mapping of two novel members of the murine Wnt gene family, Wnt11 and Wnt12, and the mapping of Wnt5a and Wnt7a. Genomics 24: 9-13, 1994.
[0015081]5669.Bui, T. D.; Lako, M.; Lejeune, S.; Curtis, A. R. J.; Strachan, T.; Lindsay, S.; Harris, A. L.: Isolation of a full-length human WNT7A gene implicated in limb development and cell transformation, and mapping to chromosome 3p25. Gene 189: 25-29, 1997.
[0015082]5670.Ikegawa, S.; Kumano, Y.; Okui, K.; Fujiwara, T.; Takahashi, E.; Nakamura, Y.: Isolation, characterization and chromosomal assignment of the human WNT7A gene. Cytogenet. Cell Genet. 74: 149-152, 1996.
[0015083]5671.Li, S.; Chiang, T.-C.; Davis, G. R.; Williams, R. M.; Wilson, V. P.; McLachlan, J. A.: Decreased expression of Wnt7a mRNA is inversely associated with the expression of estrogen receptoralpha in human uterine leiomyoma. J. Clin. Endocr. Metab. 86: 454-457, 2001.
[0015084]5672.Walder, K.; Norman, R. A.; Hanson, R. L.; Schrauwen, P.; Neverova, M.; Jenkinson, C. P.; Easlick, J.; Warden, C. H.; Pecqueur, C.; Raimbault, S.; Ricquier, D.; Harper, M.; Silver, K.; Shuldiner, A. R.; Solanes, G.; Lowell, B. B.; Chung, W. K.; Leibel, R. L.; Pratley, R.; Ravussin, E.: Association between uncoupling protein polymorphisms (UCP2-UCP3) and energy metabolism/obesity in Pima Indians. Hum. Molec. Genet. 7: 1431-1435, 1998.
[0015085]5673.Lindsay, E. A.; Rizzu, P.; Antonacci, R.; Jurecic, V.; Delmas-Mata, J.; Lee, C.-C.; Kim, U.-J.; Scambler, P. J.; Baldini, A.: A transcription map in the CATCH22 critical region: identification, mapping, and ordering of four novel transcripts expressed in heart. Genomics 32: 104-112, 1996.
[0015086]5674.Takai, S.; Hinoda, Y.; Adachi, T.; Imai, K.; Oshima, M.: A human UPD (sic)-GalNAc: polypeptide, N-acetylgalactosaminyltransferase type 1 gene is located at the chromosomal region 18q12.1. Hum. Genet. 99: 293-294, 1997.
[0015087]5675.White, T.; Bennett, E. P.; Takio, K.; Sorensen, T.; Bonding, N.; Clausen, H.: Purification and cDNA cloning of a human UDP-N-acetyl-alpha-D-galactosamine:polypeptide Nacetylgalactosaminyltransferase. J. Biol. Chem. 270: 24156-24165, 1995.
[0015088]5676.Candau, R.; Moore, P. A.; Wang, L.; Barlev, N.; Ying, C. Y.; Rosen, C. A.; Berger, S. L.: Identification of human proteins functionally conserved with the yeast putative adaptors ADA2 and GCN5. Molec. Cell. Biol. 16: 593-602, 1996.
[0015089]5677.Carter, K. C.; Wang, L.; Shell, B. K.; Zamir, I.; Berger, S. L.; Moore, P. A.: The human transcriptional adaptor genes TADA2L and GCN5L2 colocalize to chromosome 17q12-q21 and display a similar tissue expression pattern. Genomics 40: 497-500, 1997.
[0015090]5678.Ogryzko, V. V.; Kotani, T.; Zhang, X.; Schiltz, R. L.; Howard, T.; Yang, X.-J.; Howard, B. H.; Qin, J.; Nakatani, Y.: Histone-like TAFs within the PCAF histone acetylase complex. Cell 94: 35-44, 1998.
[0015091]5679.Struhl, K.; Moqtaderi, Z.: The TAFs in the HAT. Cell 94: 1-4, 1998.
[0015092]5680.Goldwurm, S.; Menzies, M. L.; Banyer, J. L.; Powell, B. L. W.; Jazwinska, E. C.: Identification of a novel Krueppel-related zinc finger gene (ZNF184) mapping to 6p21.3. Genomics 40: 486-489, 1997.
[0015093]5681.Imhof, M. O.; McDonnell, D. P.: Yeast RSP5 and its human homolog hRPF1 potentiate hormone-dependent activation of transcription by human progesterone and glucocorticoid receptors. Molec. Cell. Biol. 16: 2594-2605, 1996.
[0015094]5682.Kumar, S.; Harvey, K. F.; Kinoshita, M.; Copeland, N. G.; Noda, M.; Jenkins, N. A.: cDNA cloning, expression analysis, and mapping of the mouse Nedd4 gene. Genomics 40: 435-443, 1997.
[0015095]5683.Dikstein, R.; Zhou, S.; Tjian, R.: Human TAF(II)105 is a cell type-specific TFIID subunit related to hTAF(II)130. Cell 87: 137-146, 1996.
[0015096]5684.Freiman, R. N.; Albright, S. R.; Zheng, S.; Sha, W. C.; Hammer, R. E.; Tjian, R.: Requirement of tissue-selective TBP-associated factor TAFII105 in ovarian development. Science 293: 2084-2087, 2001.
[0015097]5685.Allikmets, R.: Simple and complex ABCR: genetic predisposition to retinal disease. (Editorial) Am. J. Hum. Genet. 67: 793-799, 2000.
[0015098]5686.Allikmets, R.; Gerrard, B.; Hutchinson, A.; Dean, M.: Characterization of the human ABC superfamily: isolation and mapping of 21 new genes using the expressed sequence tags database. Hum. Molec. Genet. 5: 1649-1655, 1996.
[0015099]5687.Allikmets, R.; Singh, N.; Sun, H.; Shroyer, N. F.; Hutchinson, A.; Chidambaram, A.; Gerrard, B.; Baird, L.; Stauffer, D.; Peiffer, A.; Rattner, A.; Smallwood, P.; Li, Y.; Anderson, K. L.; Lewis, R. A.; Nathans, J.; Leppert, M.; Dean, M.; Lupski, J. R.: A photoreceptor cell-specific ATPbinding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nature Genet. 15: 236-246, 1997. Note: Erratum: Nature Genet. 17:122 only, 1997.
[0015100]5688.Allikmets, R.; the International ABCR Screening Consortium: Further evidence for an association of ABCR alleles with age-related macular degeneration. Am. J. Hum. Genet. 67: 487-491, 2000.
[0015101]5689.Allikmets, R.; Wasserman, W. W.; Hutchinson, A.; Smallwood, P.; Nathans, J.; Rogan, P. K.; Schneider, T. D.; Dean, M.: Organization of the ABCR gene: analysis of promoter and splice junction sequences. Gene 215: 111-122, 1998.
[0015102]5690.Azarian, S. M.; Travis, G. H.: The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR). FEBS Lett. 409: 247-252, 1997.
[0015103]5691.Birnbach, C. D.; Jarvelainen, M.; Possin, D. E.; Milam, A. H.: Histopathology and immunocytochemistry of the neurosensory retina in fundus flavimaculatus. Ophthalmology 101: 1211-1219, 1994.
[0015104]5692.Fumagalli, A.; Ferrari, M.; Soriani, N.; Gessi, A.; Foglieni, B.; Martina, E.; Manitto, M. P.; Brancato, R.; Dean, M.; Allikmets, R.; Cremonesi, L.: Mutational scanning of the ABCR gene with double-gradient denaturing-gradient gel electrophoresis (DG-DGGE) in Italian Stargardt disease patients. Hum. Genet. 109: 326-338, 2001.
[0015105]5693.Gerber, S.; Rozet, J. M.; van de Pol, T. J. R.; Hoyng, C. B.; Munnich, A.; Blankenagel, A.; Kaplan, J.; Cremers, F. P. M.: Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease. Genomics 48: 139-142, 1998.
[0015106]5694.Rizzu, P.; Lindsay, E. A.; Taylor, C.; O'Donnell, H.; Levy, A.; Scambler, P.; Baldini, A.: Cloning and comparative mapping of a gene from the commonly deleted region of DiGeorge and velocardiofacial syndromes conserved in C. elegans. Mammalian Genome 7: 639-643, 1996.
[0015107]5695.Cremers, F. P. M.; van de Pol, D. J. R.; van Driel, M.; den Hollander, A. I.; van Haren, F. J. J.; Knoers, N. V. A. M.; Tijmes, N.; Bergen, A. A. B.; Rohrschneider, K.; Blankenagel, A.; Pinckers, A. J. L. G.; Deutman, A. F.; Hoyng, C. B.: Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. Hum. Molec. Genet. 7: 355-362, 1998.
[0015108]5696.Bennett, E. P.; Hassan, H,.; Clausen, H.: cDNA cloning and expression of a novel human UDP-N-acetyl-alpha-D-galactosamine. J. Biol. Chem. 271: 17006-17012, 1996.
[0015109]5697.Bennett, E. P.; Weghuis, D. O.; Merkx, G.; Geurts van Kessel, A.; Eiberg, H.; Clausen, H.: Genomic organization and chromosomal localization of three members of the UDP-Nacetylgalactosamine: polypeptide N-acetylgalactosaminyltransferase family. Glycobiology 8: 547-555, 1998.
[0015110]5698.Zara, J.; Hagen, F. K.; Ten Hagen, K. G.; Van Wuyckhuyse, B. C.; Tabak, L. A.: Cloning and expression of mouse UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-T3. Biochem. Biophys. Res. Commun. 228: 38-44, 1996.
[0015111]5699.Zhao, Y.-Y.; Liu, Y.; Stan, R.-V.; Fan, L.; Gu, Y.; Dalton, N.; Chu, P.-H.; Peterson, K.; Ross, J., Jr.; Chien, K. R.: Defects in caveolin-1 cause dilated cardiomyopathy and pulmonary hypertension in knockout mice. Proc. Nat. Acad. Sci. 99: 11375-11380, 2002.
[0015112]5700.Mok, S. C.; Wong, K.-K.; Chan, R. K. W.; Lau, C. C.; Tsao, S.-W.; Knapp, R. C.; Berkowitz, R. S.: Molecular cloning of differentially expressed genes in human epithelial ovarian cancer. Gynecol. Oncol. 52: 247-252, 1994.
[0015113]5701.Xu, X.-X.; Yang, W.; Jackowski, S.; Rock, C. O.: Cloning of a novel phosphoprotein regulated by colony-stimulating factor 1 shares a domain with the Drosophila disabled gene product. J. Biol. Chem. 270: 14184-14191, 1995.
[0015114]5702.Campbell, H. D.; Webb, G. C.; Fountain, S.; Young, I. G.: The human PIN1 peptidylprolyl cis/trans isomerase gene maps to human chromosome 19p13 and the closely related PIN1L gene to 1p31. Genomics 44: 157-162, 1997.
[0015115]5703.Liou, Y.-C.; Ryo, A.; Huang, H.-K.; Lu, P.-J.; Bronson, R.; Fujimori, F.; Uchida, T.; Hunter, T.; Lu, K. P.: Loss of Pin1 function in the mouse causes phenotypes resembling cyclin D1-null phenotypes. Proc. Nat. Acad. Sci. 99: 1335-1340, 2002.
[0015116]5704.Lu, K. P.; Hanes, S. D.; Hunter, T.: A human peptidyl-prolyl isomerase essential for regulation of mitosis. Nature 380: 544-547, 1996.
[0015117]5705.Lu, P.-J.; Wulf, G.; Zhou, X. Z.; Davies, P.; Lu, K. P.: The prolyl isomerase Pin1 restores the function of Alzheimer-associated phosphorylated tau protein. Nature 399: 784-788, 1999.
[0015118]5706.Maleszka, R.; Hanes, S. D.; Hackett, R. L.; de Couet, H. G.; Gabor Miklos, G. L.: The Drosophila melanogaster dodo (dod) gene, conserved in humans, is functionally interchangeable with the ESS1 cell division gene of Saccharomyces cerevisiae. Proc. Nat. Acad. Sci. 93: 447-451, 1996.
[0015119]5707.Winkler, K. E.; Swanson, K. I.; Kornbluth, S.; Means, A. R.: Requirement of the prolyl isomerase Pin1 for the replication checkpoint. Science 287: 1644-1647, 2000.
[0015120]5708.Takahashi, T.; Fournier, A.; Nakamura, F.; Wang, L.-H.; Murakami, Y.; Kalb, R. G.; Fujisawa, H.; Strittmatter, S. M.: Plexin-neuropilin-1 complexes form functional semaphorin-3A receptors. Cell 99: 59-69, 1999.
[0015121]5709.Santagata, S.; Boggon, T. J.; Baird, C. L.; Gomez, C. A.; Zhao, J.; Shan, W. S.; Myszka, D. G.; Shapiro, L.: G-protein signaling through tubby proteins. Science 292: 2041-2050, 2001.
[0015122]5710.Sasaki, T.; Irie-Sasaki, J.; Horie, Y.; Bachmaier, K.; Fata, J. E.; Li, M.; Suzuki, A.; Bouchard, D.; Ho, A.; Redston, M.; Gallinger, S.; Khokha, R.; Mak, T. W.; Hawkins, P. T.; Stephens, L.; Scherer, S. W.; Tsao, M.; Penninger, J. M.: Colorectal carcinomas in mice lacking the catalytic subunit of PI(3)K-gamma. Nature 406: 897-902, 2000.
[0015123]5711.Sasaki, T.; Irie-Sasaki, J.; Jones, R. G.; Oliveira-dos-Santos, A. J.; Stanford, W. L.; Bolon, B.; Wakeham, A.; Itie, A.; Bouchard, D.; Kozieradzki, I.; Joza, N.; Mak, T. W.; Ohashi, P. S.; Suzuki, A.; Penninger, J. M.: Function of PI3K-gamma in thymocyte development, T cell activation, and neutrophil migration. Science 287: 1040-1046, 2000.
[0015124]5712.Stoyanov, B.; Volinia, S.; Hanck, T.; Rubio, I.; Loubtchenkov, M.; Malek, D.; Stoyanova, S.; Vanhaesebroeck, B.; Dhand, R.; Nurnberg, B.; Gierschik, P.; Seedorf, K.; Hsuan, J. J.; Waterfield, M. D.; Wetzker, R.: Cloning and characterization of a G protein-activated human phosphoinositide-3 kinase. Science 269: 690-693, 1995.
[0015125]5713.Hotten, G.; Neidhardt, H.; Schneider, C.; Pohl, J.: Cloning of a new member of the TGF-beta family: a putative new activin betaC chain. Biochem. Biophys. Res. Commun. 206: 608-613, 1995.
[0015126]5714.Ling, N.; Ying, S. Y.; Ueno, N.; Shimasaki, S.; Esch, F.; Hotta, M.; Guillemin, R.: Pituitary FSH is released by a heterodimer of the beta-subunits from the two forms of inhibin. Nature 321: 779-782, 1986.
[0015127]5715.Schmitt, J.; Hotten, G.; Jenkins, N. A.; Gilbert, D. J.; Copeland, N. G.; Pohl, J.; Schrewe, H.: Structure, chromosomal localization, and expression analysis of the mouse inhibin/activin betaC (Inhbc) gene. Genomics 32: 358-366, 1996.
[0015128]5716.Savitsky, K.; Ziv, Y.; Bar-Shira, A.; Gilad, S.; Tagle, D. A.; Smith, S.; Uziel, T.; Sfez, S.; Nahmias, J.; Sartiel, A.; Eddy, R. L.; Shows, T. B.; Collins, F. S.; Shiloh, Y.; Rotman, G.: A human gene (DDX10) encoding a putative DEAD-box RNA helicase at 11q22-q23. Genomics 33: 199-206, 1996.
[0015129]5717.Albertsen, H. M.; Smith, S. A.; Melis, R.; Williams, B.; Holik, P.; Stevens, J.; White, R.: Sequence, genomic structure, and chromosomal assignment of human DOC-2. Genomics 33: 207-213, 1996.
[0015130]5718.Mok, S. C.; Chan, W. Y.; Wong, K. K.; Cheung, K. K.; Lau, C. C.; Ng, S. W.; Baldini, A.; Colitti, C. V.; Rock, C. O.; Berkowitz, R. S.: DOC-2, a candidate tumor suppressor gene in human epithelial ovarian cancer. Oncogene 16: 2381-2387, 1998.
[0015131]5719.Kimura, T.; Arakawa, Y.; Inoue, S.; Fukushima, Y.; Kondo, I.; Koyama, K.; Hosoi, T.; Orimo, A.; Muramatsu, M.; Nakamura, Y.; Abe, T.; Inazawa, J.: The brain finger protein gene (ZNF179), a member of the RING finger family, maps within the Smith-Magenis syndrome region at 17p11.2. Am. J. Med. Genet. 69: 320-324, 1997.
[0015132]5720.Matsuda, Y.; Inue, S.; Seki, N.; Hosoi, T.; Orimo, A.; Muramatsu, M.; Hori, T.: Chromosome mapping of human (ZNF179), mouse, and rat genes for brain finger protein (bfp), a member of the RING finger family. Genomics 33: 325-327, 1996.
[0015133]5721.Ambrose, H. J.; Blake, D. J.; Nawrotzki, R. A.; Davies, K. E.: Genomic organization of the mouse dystrobrevin gene: comparative analysis with the dystrophin gene. Genomics 39: 359-369, 1997.
[0015134]5722.Blake, D. J.; Nawrotzki, R.; Loh, N. Y.; Gorecki, D. C.; Davies, K. E.: Betadystrobrevin, a member of the dystrophin-related protein family. Proc. Nat. Acad. Sci. 95: 241-246, 1998.
[0015135]5723.Ichida, F.; Tsubata, S.; Bowles, K. R.; Haneda, N.; Uese, K.; Miyawaki, T.; Dreyer, W. J.; Messina, J.; Li, H.; Bowles, N. E.; Towbin, J. A.: Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. Circulation 103: 1256-1263, 2001.
[0015136]5724.England, S. K.; Uebele, V. N.; Shear, H.; Kodali, J.; Bennett, P. B.; Tamkun, M. M.: Characterization of a voltage-gated K+ channel beta subunit expressed in human heart. Proc. Nat. Acad. Sci. 92: 6309-6313, 1995.
[0015137]5725.Jones, J. M.; Bentley, E.; Meisler, M. H.; Darling, S. M.: Genetic mapping of the voltage-gated shaker potassium channel beta subunit Kcnab1 to mouse chromosome 3. Mammalian Genome 9: 260 only, 1998.
[0015138]5726.Leicher, T.; Bahring, R.; Isbrandt, D.; Pongs, O.: Coexpression of the KCNA3B gene product with Kv1.5 leads to a novel A-type potassium channel. J. Biol. Chem. 273: 35095-35101, 1998.
[0015139]5727.Leicher, T. Roeper, J.; Weber, K.; Wang, X.; Pongs, O.: Structural and functional characterization of human potassium channel subunit beta-1 (KCNA1B). Neuropharmacology 35: 787-795, 1996.
[0015140]5728.McCormack, K.; McCormack, T.; Tanouye, M.; Rudy, B.; Stuhmer, W. : Alternative splicing of the human Shaker K+ channel beta-1 gene and functional expression of the beta-2 gene product. FEBS Lett. 370: 32-36, 1995.
[0015141]5729.Schultz, D.; Litt, M.; Smith, L.; Thayer, M.; McCormack, K.: Localization of two potassium channel beta subunit genes, KCNA1B and KCNA2B. Genomics 31: 389-391, 1996.
[0015142]5730.Collin, G. B.; Nishina, P. M.; Marshall, J. D.; Naggert, J. K. : Human DCTN1: genomic structure and evaluation as a candidate for Alstrom syndrome. Genomics 53: 359-364, 1998.
[0015143]5731.Holzbaur, E. L. F.; Tokito, M. K.: Localization of the DCTN1 gene encoding p150(Glued) to human chromosome 2p13 by fluorescence in situ hybridization. Genomics 31: 398-399, 1996.
[0015144]5732.Holzbaur, E. L. F.; Vallee, R. B.: Dyneins: molecular structure and cellular function. Ann. Rev. Cell Biol. 10: 339-372, 1994.
[0015145]5733.Jang, W.; Weber, J. S.; Tokito, M. K.; Holzbaur, E. L. F.; Meisler, M. H.: Mouse p150(Glued) (dynactin 1) cDNA sequence and evaluation as a candidate for the neuromuscular disease mutation mnd2. Biochem. Biophys. Res. Commun. 231: 344-347, 1997.
[0015146]5734.Korthaus, D.; Wedemeyer, N.; Lengeling, A.; Ronsiek, M.; Jockusch, H.; Schmitt-John, T.: Integrated radiation hybrid map of human chromosome 2p13: possible involvement of dynactin in neuromuscular diseases. Genomics 43: 242-244, 1997.
[0015147]5735.Pushkin, A.; Abuladze, N.; Newman, D.; Tatishchev, S.; Kurtz, I. : Genomic organization of the DCTN1-SLC4A5 locus encoding both NBC4 and p150(Glued). Cytogenet. Cell Genet. 95: 163-168, 2001.
[0015148]5736.Miyata, A.; Hara, S.; Yokoyama, C.; Inoue, H.; Ullrich, V.; Tanabe, T.: Molecular cloning and expression of human prostacyclin synthase. Biochem. Biophys. Res. Commun. 200: 1728-1734, 1994.
[0015149]5737.Inoue, H.; Ishii, H.; Alder, H.; Snyder, E.; Druck, T.; Huebner, K.; Croce, C. M.: Sequence of the FRA3B common fragile region: implications for the mechanism of FHIT deletion. Proc. Nat. Acad. Sci. 94: 14584-14589, 1997.
[0015150]5738.Morikawa, H.; Nakagawa, Y.; Hashimoto, K.; Niki, M.; Egashira, Y.; Hirata, I.; Katsu, K.; Akao, Y.: Frequent altered expression of fragile histidine triad protein in human colorectal adenomas. Biochem. Biophys. Res. Commun. 278: 205-210, 2000.
[0015151]5739.Nelson, D. R.; Koymans, L.; Kamataki, T.; Stegeman, J. J.; Feyereisen, R.; Waxman, D. J.; Waterman, M. R.; Gotoh, O.; Coon, M. J.; Estabrook, R. W.; Gunsalus, I. C.; Nebert, D. W.: P450 superfamily: update on new sequences, gene mapping, accession numbers and nomenclature. Pharmacogenetics 6: 1-42, 1996.
[0015152]5740.Wang, L.-H.; Chen, L.: Organization of the gene encoding human prostacyclin synthase. Biochem. Biophys. Res. Commun. 226: 631-637, 1996.
[0015153]5741.Yokoyama, C.; Yabuki, T.; Inoue, H.; Tone, Y.; Hara, S.; Hatae, T.; Nagata, M.; Takahashi, E.-I.; Tanabe, T.: Human gene encoding prostacyclin synthase (PTGIS): genomic organization, chromosomal localization, and promoter activity. Genomics 36: 296-304, 1996.
[0015154]5742.Brindle, N. P. J.; Holt, M. R.; Davies, J. E.; Price, C. J.; Critchley, D. R.: The focaladhesion vasodilator-stimulated phosphoprotein (VASP) binds to the proline-rich domain in vinculin. Biochem. J. 318: 753-757, 1996.
[0015155]5743.Haffner, C.; Jarchau, T.; Reinhard, M.; Hoppe, J.; Lohmann, S. M.; Walter, V.: Molecular cloning, structural analysis and functional expression of the proline-rich focal adhesion and microfilament-associated protein VASP. EMBO J. 14: 19-27, 1995.
[0015156]5744.Zimmer, M.; Fink, T.; Fischer, L.; Hauser, W.; Scherer, K.; Lichter, P.; Walter, U.: Cloning of the VASP (vasodilator-stimulated phosphoprotein) genes in human and mouse: structure, sequence, and chromosomal localization. Genomics 36: 227-233, 1996.
[0015157]5745.Hackam, A. S.; Yassa, A. S.; Singaraja, R.; Metzler, M.; Gutekunst, C.-A.; Gan, L.; Warby, S.; Wellington, C. L.; Vaillancourt, J.; Chen, N.; Gervais, F. G.; Raymond, L.; Nicholson, D. W.; Hayden, M. R.: Huntingtin interacting protein 1 induces apoptosis via a novel caspase-dependent death effector domain. J. Biol. Chem. 275: 41299-41308, 2000.
[0015158]5746.Himmelbauer, H.; Wedemeyer, N.; Haaf, T.; Wanker, E. E.; Schalkwyk, L. C.; Lehrach, H.: IRS-PCR-based genetic mapping of the huntingtin interacting protein gene (HIP1) on mouse chromosome 5. Mammalian Genome 9: 26-31, 1998.
[0015159]5747.Manabe, T.; Noda, Y.; Mamiya, T.; Katagiri, H.; Houtani, T.; Nishi, M.; Noda, T.; Takahashi, T.; Sugimoto, T.; Nabeshima, T.; Takeshima, H.: Facilitation of long-term potentiation and memory in mice lacking nociceptin receptors. Nature 394: 577-581, 1998.
[0015160]5748.Mollereau, C.; Simons, M.-J.; Soularue, P.; Liners, F.; Vassart, G.; Meunier, J.-C.; Parmentier, M.: Structure, tissue distribution, and chromosomal localization of the prepronociceptin gene. Proc. Nat. Acad. Sci. 93: 8666-8700, 1996.
[0015161]5749.Nishi, M.; Houtani, T.; Noda, Y.; Mamiya, T.; Sato, K.; Doi, T.; Kuno, J.; Takeshima, H.; Nukada, T.; Nabeshima, T.; Yamashita, T.; Noda, T.; Sugimoto, T.: Unrestrained nociceptive response and disregulation of hearing ability in mice lacking the nociceptin/orphaninFQ receptor. EMBO J. 16: 1858-1864, 1997.
[0015162]5750.Okuda-Ashitaka, E.; Minami, T.; Tachibana, S.; Yoshihara, Y.; Nishiuchi, Y.; Kimura, T.; Ito, S.: Nocistatin, a peptide that blocks nociceptin action in pain transmission. Nature 392: 286-289, 1998.
[0015163]5751.Pan, Z. Z.; Hirakawa, N.; Fields, H. L.: A cellular mechanism for the bidirectional painmodulating actions of orphanin FQ/nociceptin. Neuron 26: 515-522, 2000.
[0015164]5752.Serhan, C. N.; Fierro, I. M.; Chiang, N.; Pouliot, M.: Cutting edge: nociceptin stimulates neutrophil chemotaxis and recruitment: inhibition by aspirin-triggered-15-epi-lipoxin A(4). J. Immun. 166: 3650-3654, 2001.
[0015165]5753.Kanai, N.; Lu, R.; Satriano, J. A.; Bao, Y.; Wolkoff, A. W.; Schuster, V. L.: Identification and characterization of a prostaglandin transporter. Science 268: 866-869, 1995.
[0015166]5754.Lu, R.; Kanai, N.; Bao, Y.; Schuster, V. L.: Cloning, in vitro expression, and tissue distribution of a human prostaglandin transporter cDNA (hPGT). J. Clin. Invest. 98: 1142-1149, 1996.
[0015167]5755.Lu, R.; Schuster, V. L.: Molecular cloning of the gene for the human prostaglandin transporter hPGT: gene organization, promoter activity, and chromosomal localization. Biochem. Biophys. Res. Commun. 246: 805-812, 1998.
[0015168]5756.Funamoto, S.; Meili, R.; Lee, S.; Parry, L.; Firtel, R. A.: Spatial and temporal regulation of 3-phosphoinositides by PI 3-kinase and PTEN mediates chemotaxis. Cell 109: 611-623, 2002.
[0015169]5757.Gimm, O.; Attie-Bitach, T.; Lees, J. A.; Vekemans, M.; Eng, C. : Expression of the PTEN tumour suppressor protein during human development. Hum. Molec. Genet. 9: 1633-1639, 2000.
[0015170]5758.Groszer, M.; Erickson, R.; Scripture-Adams, D. D.; Lesche, R.; Trumpp, A.; Zack, J. A.; Kornblum, H. I.; Liu, X.; Wu, H.: Negative regulation of neural stem/progenitor cell proliferation by the Pten tumor suppressor gene in vivo. Science 294: 2186-2189, 2001.
[0015171]5759.Forrest, M. S.; Edwards, S. M.; Hamoudi, R. A.; Dearnaley, D. P.; Arden-Jones, A.; Dowe, A.; Murkin, A.; Kelly, J.; Teare, M. D.; Easton, D. F.; Knowles, M. A.; Bishop, D. T.; Eeles, R. A.; CRC/BPG UK Familial Prostate Cancer Study Collaborators; EC Biomed Familial Prostate Cancer Study Collaborators: No evidence of germline PTEN mutations in familial prostate cancer. J. Med. Genet. 37: 210-212, 2000.
[0015172]5760.Hansen, G. M.; Justice, M. J.: Pten, a candidate tumor suppressor gene, maps to mouse chromosome 19. Mammalian Genome 9: 88-90, 1998.
[0015173]5761.Iijima, M.; Devreotes, P.: Tumor suppressor PTEN mediates sensing of chemoattractant gradients. Cell 109: 599-610, 2002.
[0015174]5762.Kim, S. K.; Su, L.-K.; Oh, Y.; Kemp, B. L.; Hong, W. K.; Mao, L.: Alterations of PTEN/MMAC1, a candidate tumor suppressor gene, and its homologue, PTH2, in small cell lung cancer cell lines. Oncogene 16: 89-93, 1998.
[0015175]5763.Kong, D.; Suzuki, A.; Zou, T.-T.; Sakurada, A.; Kemp, L. W.; Wakatsuki, S.; Yokoyama, T.; Yamakawa, H.; Furukawa, T.; Sato, M.; Ohuchi, N.; Sato, S.; Yin, J.; Wang, S.; Abraham, J. M.; Souza, R. F.; Smolinski, K. N.; Meltzer, S. J.; Horii, A.: PTEN1 is frequently mutated in primary endometrial carcinomas. (Letter) Nature Genet. 17: 143-144, 1997.
[0015176]5764.Kurose, K.; Gilley, K.; Matsumoto, S.; Watson, P. H.; Zhou, X.-P.; Eng, C.: Frequent somatic mutations in PTEN and TP53 are mutually exclusive in the stroma of breast carcinomas. Nature Genet. 15Oct.: , 2002. Note: Advance Electronic Publication.
[0015177]5765.Kurose, K.; Zhou, X.-P.; Araki, T.; Eng, C.: Biallelic inactivating mutations and an occult germline mutation of PTEN in primary cervical carcinomas. Genes Chromosomes Cancer 29: 166-172, 2000.
[0015178]5766.Kwabi-Addo, B.; Giri, D.; Schmidt, K.; Podsypanina, K.; Parsons, R.; Greenberg, N.; Ittmann, M.: Haploinsufficiency of the Pten tumor suppressor gene promotes prostate cancer progression. Proc. Nat. Acad. Sci. 98: 11563-11568, 2001.
[0015179]5767.Lee, J.-O.; Yang, H.; Georgescu, M.-M.; Di Cristofano, A.; Maehama, T.; Shi, Y.; Dixon, J. E.; Pandolfi, P.; Pavletich, N. P.: Crystal structure of the PTEN tumor suppressor: implications for its phosphoinositide phosphatase activity and membrane association. Cell 99: 323-334, 1999.
[0015180]5768.Li, D.-M.; Sun, H.: PTEN/MMAC1/TEP1 suppresses the tumorigenicity and induces G1 cell cycle arrest in human glioblastoma cells. Proc. Nat. Acad. Sci. 95: 15406-15411, 1998.
[0015181]5769.Li, J.; Yen, C.; Liaw, D.; Podsypanina, K.; Bose, S.; Wang, S. I.; Puc, J.; Miliaresis, C.; Rodgers, L.; McCombie, R.; Bigner, S. H.; Giovanella, B. C.; Ittmann, M.; Tycko, B.; Hibshoosh, H.; Wigler, M. H.; Parsons, R.: PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer. Science 275: 1943-1946, 1997.
[0015182]5770.Li, L.; Ernsting, B. R.; Wishart, M. J.; Lohse, D. L.; Dixon, J. E.: A family of putative tumor suppressors is structurally and functionally conserved in humans and yeast. J. Biol. Chem. 272: 29403-29406, 1997.
[0015183]5771.Marsh, D. J.; Coulon, V.; Lunetta, K. L.; Rocca-Serra, P.; Dahia, P. L. M.; Zheng, Z.; Liaw, D.; Caron, S.; Duboue, B.; Lin, A. Y.; Richardson, A.-L.; Bonnetblanc, J.-M.; and 25 others: Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. Hum. Molec. Genet. 7: 507-515, 1998.
[0015184]5772.Mutter, G. L.; Lin, M.-C.; Fitzgerald, J. T.; Kum, J. B.; Eng, C.: Changes in endometrial PTEN expression throughout the human menstrual cycle. J. Clin. Endocr. Metab. 85: 2334-2338, 2000.
[0015185]5773.Loughna, S.; Sato, T. N.: A combinatorial role of angiopoietin-1 and orphan receptor TIE1 pathways in establishing vascular polarity during angiogenesis. Molec. Cell 7: 233-239, 2001.
[0015186]5774.Bandmann, O.; Nygaard, T. G.; Surtees, R.; Marsden, C. D.; Wood, N. W.; Harding, A. E.: Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity. Hum. Molec. Genet. 5: 403-406, 1996.
[0015187]5775.Blau, N.; Ichinose, H.; Nagatsu, T.; Heizmann, C. W.; Zacchello, F.; Burlina, A. B.: A missense mutation in a patient with guanosine triphosphate cyclohydrolase I deficiency missed in the newborn screening program. J. Pediat. 126: 401-405, 1995.
[0015188]5776.Bode, V. C.; McDonald, J. D.; Guenet, J.-L.; Simon, D.: Hph-1: a mouse mutant with hereditary hyperphenylalaninemia induced by ethylnitrosourea mutagenesis. Genetics 118: 299-305, 1988.
[0015189]5777.Brique, S.; Destee, A.; Lambert, J.-C.; Mouroux, V.; Delacourte, A.; Amouyel, P.; Chartier-Harlin, M.-C.: A new GTP-cyclohydrolase I mutation in an unusual dopa-responsive dystonia, familial form. Neuroreport 10: 487-491, 1999.
[0015190]5778.Furukawa, Y.; Kish, S. J.; Bebin, E. M.; Jacobson, R. D.; Fryburg, J. S.; Wilson, W. G.; Shimadzu, M.; Hyland, K.; Trugman, J. M.: Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations. Ann. Neurol. 44: 10-16, 1998.
[0015191]5779.Hahn, H.; Trant, M. R.; Brownstein, M. J.; Harper, R. A.; Milstien, S.; Butler, I. J.: Neurologic and psychiatric manifestations in a family with a mutation in exon 2 of the guanosine triphosphate-cyclohydrolase gene. Arch. Neurol. 58: 749-755, 2001.
[0015192]5780.Hirano, M.; Imaiso, Y.; Ueno, S.: Differential splicing of the GTP cyclohydrolase I RNA in dopa-responsive dystonia. Biochem. Biophys. Res. Commun. 234: 316-319, 1997.
[0015193]5781.Hong, K.-M.; Kim, Y.-S.; Paik, M.-K.: A novel nonsense mutation of the GTP cyclohydrolase I gene in a family with dopa-responsive dystonia. Hum. Hered. 52: 59-60, 2001.
[0015194]5782.Hwu, W.-L.; Wang, P.-J.; Hsiao, K.-J.; Wang, T.-R.; Chiou, Y.-W.; Lee, Y.-M.: Doparesponsive dystonia induced by a recessive GTP cyclohydrolase I mutation. Hum. Genet. 105: 226-230, 1999.
[0015195]5783.Hyland, K.; Nygaard, T. G.; Trugman, J. M.; Swoboda, K. J.; Arnold, L. A.; Sparagana, S. P.: Oral phenylalanine loading profiles in symptomatic and asymptomatic gene carriers with doparesponsive dystonia due to dominantly inherited GTP cyclohydrolase deficiency. J. Inherit. Metab. Dis. 22: 213-215, 1999.
[0015196]5784.Ichinose, H.; Ohye, T.; Matsuda, Y.; Hori, T.; Blau, N.; Burlina, A.; Rouse, B.; Matalon, R.; Fujita, K.; Nagatsu, T.: Characterization of mouse and human GTP cyclohydrolase I genes: mutations in patients with GTP cyclohydrolase I deficiency. J. Biol. Chem. 270: 10062-10071, 1995.
[0015197]5785.Inagaki, H.; Ohye, T.; Suzuki, T.; Segawa, M.; Nomura, Y.; Nagatsu, T.; Ichinose, H.: Decrease in GTP cyclohydrolase I gene expression caused by inactivation of one allele in hereditary progressive dystonia with marked diurnal fluctuation. Biochem. Biophys. Res. Commun. 260: 747-751, 1999.
[0015198]5786.McDonald, J. D.; Cotton, R. J. H.; Jennings, I.; Ledley, F. D.; Woo, S. L. C.; Bode, V. C.: Biochemical defect of hph-1 mouse mutant is a deficiency in GTP-cyclohydrolase activity. J. Neurochem. 50: 655-657, 1988.
[0015199]5787.Montanez, C. S.; McDonald, J. D.: Linkage analysis of the hph-1 mutation and the GTP cyclohydrolase I structural gene. Molec. Genet. Metab. 68: 91-92, 1999.
[0015200]5788.Skrygan, M.; Bartholome, B.; Bonafe, L.; Blau, N.; Bartholome, K.: A splice mutation in the GTP cyclohydrolase I gene causes dopa-responsive dystonia by exon skipping. J. Inherit. Metab. Dis. 24: 345-351, 2001.
[0015201]5789.Steinberger, D.; Topka, H.; Fischer, D.; Muller, U.: GCH1 mutation in a patient with adult-onset oromandibular dystonia. Neurology 52: 877-879, 1999.
[0015202]5790.Tamaru, Y.; Hirano, M.; Ito, H.; Kawamura, J.; Matsumoto, S.; Imai, T.; Ueno, S.: Clinical similarities of hereditary progressive/dopa responsive dystonia caused by different types of mutations in the GTP cyclohydrolase I gene. J. Neurol. Neurosurg. Psychiat. 64: 469-473, 1998.
[0015203]5791.Furuichi, M.; Yoshida, M. C.; Oda, H.; Tajiri, T.; Nakabeppu, Y.; Tsuzuki, T.; Sekiguchi, M.: Genomic structure and chromosome location of the human mutT homologue gene MTH1 encoding 8-oxo-dGTPase for prevention of A:T to C:G transversion. Genomics 24: 485-490, 1994.
[0015204]5792.Igarashi, H.; Tsuzuki, T.; Kakuma, T.; Tominaga, Y.; Sekiguchi, M.: Organization and expression of the mouse MTH1 gene for preventing transversion mutation. J. Biol. Chem. 272: 3766-3772, 1997.
[0015205]5793.Tsuzuki, T.; Egashira, A.; Igarashi, H.; Iwakuma, T.; Nakatsuru, Y.; Tominaga, Y.; Kawate, H.; Nakao, K.; Nakamura, K.; Ide, F.; Kura, S.; Nakabeppu, Y.; Katsuki, M.; Ishikawa, T.; Sekiguchi, M.: Spontaneous tumorigenesis in mice defective in the MTH1 gene encoding 8-oxodGTPase. Proc. Nat. Acad. Sci. 98: 11456-11461, 2001.
[0015206]5794.Tafuri, A.; Shahinian, A.; Bladt, F.; Yoshinaga, S. K.; Jordana, M.; Wakeham, A.; Boucher, L.-M.; Bouchard, D.; Chan, V. S. F.; Duncan, G.; Odermatt, B.; Ho, A.; Itie, A.; Horan, T.; Whoriskey, J. S.; Pawson, T.; Penninger, J. M.; Ohashi, P. S.; Mak, T. W.: ICOS is essential for effective T-helper-cell responses. Nature 409: 105-109, 2001.
[0015207]5795.Yoshinaga, S. K.; Whoriskey, J. S.; Khare, S. D.; Sarmiento, U.; Guo, J.; Horan, T.; Shih, G.; Zhang, M.; Coccia, M. A.; Kohno, T.; Tafuri-Bladt, A.; Brankow, D.; and 14 others: T-cell costimulation through B7RP-1 and ICOS. Nature 402: 827-832, 1999.
[0015208]5796.Clark, S. W.; Staub, O.; Clark, I. B.; Holzbaur, E. L. F.; Paschal, B. M.; Vallee, R. B.; Meyer, D. I.: Beta-centractin: characterization and distribution of a new member of the centractin family of actin-related proteins. Molec. Biol. Cell 5: 1301-1310, 1994.
[0015209]5797.Elsea, S. H.; Clark, I. B.; Juyal, R. C.; Meyer, D. J.; Meyer, D. I.; Patel, P. I.: Assignment of beta-centractin (CTRN2) to human chromosome 2 bands q11.1-q11.2 with somatic cell hybrids and in situ hybridization. Cytogenet. Cell Genet. 84: 48-49, 1999.
[0015210]5798.Ho, A. M.; Johnson, M. D.; Kingsley, D. M.: Role of the mouse ank gene in control of tissue calcification and arthritis. Science 289: 265-270, 2000.
[0015211]5799.Yu, H.; Peters, J.-M.; King, R. W.; Page, A. M.; Hieter, P.; Kirschner, M. W.: Identification of a cullin homology region in a subunit of the anaphase-promoting complex. Science 279: 1219-1222, 1998.
[0015212]5800.Zhao, N.; Lai, F.; Fernald, A. A.; Eisenbart, J. D.; Espinosa, R., III.; Wang, P. W.; Le Beau, M. M.: Human CDC23: cDNA cloning, mapping to 5q31, genomic structure, and evaluation as a candidate tumor suppressor gene in myeloid leukemias. Genomics 53: 184-190, 1998.
[0015213]5801.Brambilla, R.; Draetta, G.: Molecular cloning of PISSLRE, a novel putative member of the cdk family of protein serine/threonine kinases. Oncogene 9: 3037-3041, 1994.
[0015214]5802.Grana, X.; Claudio, P. P.; De Luca, A.; Sang, N.; Giordano, A. : PISSLRE, a human novel CDC2-related protein kinase. Oncogene 9: 2097-2103, 1994.
[0015215]5803.de Winter, J. P.; Rooimans, M. A.; van der Weel, L.; van Berkel, C. G. M.; Alon, N.; Bosnoyan-Collins, L.; de Groot, J.; Zhi, Y.; Waisfisz, Q.; Pronk, J. C.; Arwert, F.; Mathew, C. G.; Scheper, R. J.; Hoatlin, M. E.; Buchwald, M.; Joenje, H.: The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM. (Letter) Nature Genet. 24: 15-16, 2000.
[0015216]5804.de Winter, J. P.; van der Weel, L.; de Groot, J.; Stone, S.; Waisfisz, Q.; Arwert, F.; Scheper, R. J.; Kruyt, F. A. E.; Hoatlin, M. E.; Joenje, H.: The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG. Hum. Molec. Genet. 9: 2665-2674, 2000.
[0015217]5805.Beaudet, A. L.; O'Brien, W. E.; Bock, H.-G. O.; Freytag, S. O.; Su, T.-S.: The human argininosuccinate synthetase locus and citrullinemia. Adv. Hum. Genet. 15: 161-196, 1986.
[0015218]5806.Beaudet, A. L.; Su, T.-S.; Bock, H.-G.; D'Eustachio, P.; Ruddle, F. H.; O'Brien, W. E.: Use of a cloned cDNA to study human argininosuccinate synthetase. (Abstract) Am. J. Hum. Genet. 33: 36A only, 1981.
[0015219]5807.Beaudet, A. L.; Su, T.-S.; O'Brien, W. E.; D'Eustachio, P.; Barker, P. E.; Ruddle, F. H.: Dispersion of argininosuccinate-synthetase-like human genes to multiple autosomes and the X chromosome. Cell 30: 287-293, 1982.
[0015220]5808.Daiger, S. P.; Wildin, R. S.; Su, T.-S.: Sequences on the human Y chromosome homologous to the autosomal gene for argininosuccinate synthetase. Nature 298: 682-684, 1982.
[0015221]5809.Underwood, K. W.; Song, C.; Kriz, R. W.; Chang, X. J.; Knopf, J. L.; Lin, L.-L.: A novel calcium-independent phospholipase A(2), cPLA(2)-gamma, that is prenylated and contains homology to cPLA(2). J. Biol. Chem. 273: 21926-21932, 1998.
[0015222]5810.Cupillard, L.; Koumanov, K.; Mattei, M.-G.; Lazdunski, M.; Lambeau, G.: Cloning, chromosomal mapping, and expression of a novel human secretory phospholipase A(2). J. Biol. Chem. 272: 15745-15752, 1997.
[0015223]5811.Marsters, S. A.; Sheridan, J. P.; Pitti, R. M.; Huang, A.; Skubatch, M.; Baldwin, D.; Yuan, J.; Gurney, A.; Goddard, A. D.; Godowski, P.; Ashkenazi, A.: A novel receptor for Apo2L/TRAIL contains a truncated death domain. Curr. Biol. 7: 1003-1006, 1997.
[0015224]5812.Pan, G.; O'Rourke, K.; Chinnaiyan, A. M.; Gentz, R.; Ebner, R.; Ni, J.; Dixit, V. M.: The receptor for the cytotoxic ligand TRAIL. Science 276: 111-113, 1997.
[0015225]5813.MacFarlane, M.; Ahmad, M.; Srinivasula, S. M.; Fernandes-Alnemri, T.; Cohen, G. M.; Alnemri, E. S.: Identification and molecular cloning of two novel receptors for the cytotoxic ligand TRAIL. J. Biol. Chem. 272: 25417-25420, 1997.
[0015226]5814.Pai, S. I.; Wu, G. S.; Ozoren, N.; Wu, L.; Jen, J.; Sidransky, D.; El-Deiry, W. S.: Rare loss-of-function mutation of a death receptor gene in head and neck cancer. Cancer Res. 58: 3513-3518, 1998.
[0015227]5815.Pan, G.; Ni, J.; Wei, Y.-F.; Yu, G.; Gentz, R.; Dixit, V. M.: An antagonist decoy receptor and a death domain-containing receptor for TRAIL. Science 277: 815-818, 1997.
[0015228]5816.Schneider, P.; Bodmer, J.-L.; Thome, M.; Hofmann, K.; Holler, N.; Tschopp, J.: Characterization of two receptors for TRAIL. FEBS Lett. 416: 329-334, 1997.
[0015229]5817.Screaton, G. R.; Mongkolsapaya, J.; Xu, X.-N.; Cowper, A. E.; McMichael, A. J.; Bell, J. I.: TRICK2, a new alternatively spliced receptor that transduces the cytotoxic signal from TRAIL. Curr. Biol. 7: 693-696, 1997.
[0015230]5818.Sheridan, J. P.; Marsters, S. A.; Pitti, R. M.; Gurney, A.; Skubatch, M.; Baldwin, D.; Ramakrishnan, L.; Gray, C. L.; Baker, K.; Wood, W. I.; Goddard, A. D.; Godowski, P.; Ashkenazi, A.: Control of TRAIL-induced apoptosis by a family of signaling and decoy receptors. Science 277: 818-821, 1997.
[0015231]5819.Boeglin, W. E.; Kim, R. B.; Brash, A. R.: A 12R-lipoxygenase in human skin: mechanistic evidence, molecular cloning, and expression. Proc. Nat. Acad. Sci. 95: 6744-6749, 1998.
[0015232]5820.Sun, D.; McDonnell, M.; Chen, X.-S.; Lakkis, M. M.; Li, H.; Isaacs, S. N.; Elsea, S. H.; Patel, P. I.; Funk, C. D.: Human 12(R)-lipoxygenase and the mouse ortholog: molecular cloning, expression, and gene chromosomal assignment. J. Biol. Chem. 273: 33540-33547, 1998.
[0015233]5821.Duchateau, P. N.; Pullinger, C. R.; Cho, M. H.; Eng, C.; Kane, J. P.: Apolipoprotein L gene family: tissue-specific expression, splicing, promoter regions; discovery of a new gene. J. Lipid Res. 42: 620-630, 2001.
[0015234]5822.Duchateau, P. N.; Pullinger, C. R.; Orellana, R. E.; Kunitake, S. T.; Naya-Vigne, J.; O'Connor, P. M.; Malloy, M. J.; Kane, J. P. : Apolipoprotein L, a new human high density lipoprotein apolipoprotein expressed by the pancreas: identification, cloning, characterization, and plasma distribution of apolipoprotein L. J. Biol. Chem. 272: 25576-25582, 1997.
[0015235]5823.Monajemi, H.; Fontijn, R. D.; Pannekoek, H.; Horrevoets, A. J. G.: The apolipoprotein L gene cluster has emerged recently in evolution and is expressed in human vascular tissue. Genomics 79: 539-546, 2002.
[0015236]5824.Page, N. M.; Butlin, D. J.; Lomthaisong, K.; Lowry, P. J.: The human apolipoprotein L gene cluster: identification, classification, and sites of distribution. Genomics 74: 71-78, 2001.
[0015237]5825.Lin, C.-Y.; Huang, P.-H.; Liao, W.-L.; Cheng, H.-J.; Huang, C.-F.; Kuo, J.-C.; Patton, W. A.; Massenburg, D.; Moss, J.; Lee, F.-J. S. : ARL4, an ARF-like protein that is developmentally regulated and localized to nuclei and nucleoli. J. Biol. Chem. 275: 37815-37823, 2000.
[0015238]5826.Schurmann, A.; Breiner, M.; Becker, W.; Huppertz, C.; Kainulainen, H.; Kentrup, H.; Joost, H.-G.: Cloning of two novel ADP-ribosylation factor-like proteins and characterization of their differential expression in 3T3-L1 cells. J. Biol. Chem. 269: 15683-15688, 1994.
[0015239]5827.Schurmann, A.; Koling, S.; Jacobs, S.; Saftig, P.; Kraub, S.; Wennemuth, G.; Kluge, R.; Joost, H.-G.: Reduced sperm count and normal fertility in male mice with targeted disruption of the ADPribosylation factor-like 4 (Arl4) gene. Molec. Cell. Biol. 22: 2761-2768, 2002.
[0015240]5828.Lehnert, K.; Ni, J.; Leung, E.; Gough, S. M.; Weaver, A.; Yao, W.-P.; Liu, D.; Wang, S.-X.; Morris, C. M.; Krissansen, G. W.: Cloning, sequence analysis, and chromosomal localization of the novel human integrin alpha-11 subunit (ITGA11). Genomics 60: 179-187, 1999.
[0015241]5829.Velling, T.; Kusche-Gullberg, M.; Sejersen, T.; Gullberg, D.: cDNA cloning and chromosomal localization of human alpha-11 integrin: a collagen-binding, I domain-containing, beta-1-associated integrin alpha-chain present in muscle tissues. J. Biol. Chem. 274: 25735-25742, 1999.
[0015242]5830.Liao, W.; Hong, S.-H.; Chan, B. H.-J.; Rudolph, F. B.; Clark, S. C.; Chan, L.: APOBEC-2, a cardiac- and skeletal muscle-specific member of the cytidine deaminase supergene family. Biochem. Biophys. Res. Commun. 260: 398-404, 1999.
[0015243]5831.Smith, S. J.; Cases, S.; Jensen, D. R.; Chen, H. C.; Sande, E.; Tow, B.; Sanan, D. A.; Raber, J.; Eckel, R. H.; Farese, R. V., Jr. : Obesity resistance and multiple mechanisms of triglyceride synthesis in mice lacking Dgat. Nature Genet. 25: 87-90, 2000.
[0015244]5832.Mital, R.; Kobayashi, R.; Hernandez, N.: RNA polymerase III transcription from the human U6 and adenovirus type 2 VAI promoters has different requirements for human BRF, a subunit of human TFIIIB. Molec. Cell. Biol. 16: 7031-7042, 1996.
[0015245]5833.Wang, Z.; Roeder, R. G.: Structure and function of a human transcription factor TFIIIB subunit that is evolutionarily conserved and contains both TFIIB- and high-mobility-group protein 2-related domains. Proc. Nat. Acad. Sci. 92: 7026-7030, 1995.
[0015246]5834.Comai, L.; Zomerdijk, J. C. B. M.; Beckmann, H.; Zhou, S.; Admon, A.; Tjian, R.: Reconstitution of transcription factor SL1: exclusive binding of TBP by SL1 or TFIID subunits. Science 266: 1966-1972, 1994.
[0015247]5835.Di Pietro, C.; Rapisarda, A.; Amico, V.; Bonaiuto, C.; Viola, A.; Scalia, M.; Motta, S.; Amato, A.; Engel, H.; Messina, A.; Sichel, G.; Grzeschik, K.-H.; Purrello, M.: Genomic localization of the human genes TAF1A, TAF1B and TAF1C, encoding TAFI48, TAFI63 and TAFI110 subunits of class I general transcription initiation factor SL1. Cytogenet. Cell Genet. 89: 133-136, 2000.
[0015248]5836.Kloeker, S.; Wadzinski, B. E.: Purification and identification of a novel subunit of protein serine/threonine phosphatase 4. J. Biol. Chem. 274: 5339-5347, 1999.
[0015249]5837.Nakamura, T.; Takeuchi, K.; Muraoka, S.; Takezoe, H.; Takahashi, N.; Mori, N.: A neurally enriched coronin-like protein, ClipnC, is a novel candidate for an actin cytoskeleton-cortical membrane-linking protein. J. Biol. Chem. 274: 13322-13327, 1999.
[0015250]5838.Bennett, E. P.; Hassan, H.; Hollingsworth, M. A.; Clausen, H.: A novel human UDP-Nacetyl-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase, GalNAc-T7, with specificity for partial GalNAc-glycosylated acceptor substrates. FEBS Lett. 460: 226-230, 1999.
[0015251]5839.Saitoh, T.; Moriwaki, J.; Koike, J.; Takagi, A.; Miwa, T.; Shiokawa, K.; Katoh, M.: Molecular cloning and characterization of FRAT2, encoding a positive regulator of the WNT signaling pathway. Biochem. Biophys. Res. Commun. 281: 815-820, 2001.
[0015252]5840.Abbaszade, I.; Liu, R.-Q.; Yang, F.; Rosenfeld, S. A.; Ross, O. H.; Link, J. R.; Ellis, D. M.; Tortorella, M. D.; Pratta, M. A.; Hollis, J. M.; Wynn, R.; Duke, J. L.; and 15 others: Cloning and characterization of ADAMTS11, an aggrecanase from the ADAMTS family. J. Biol. Chem. 274: 23443-23450, 1999.
[0015253]5841.Chen, D.; Guo, J.; Miki, T.; Tachibana, M.; Gahl, W. A.: Molecular cloning and characterization of rab27a and rab27b, novel human rab proteins shared by melanocytes and platelets. Biochem. Molec. Med. 60: 27-37, 1997.
[0015254]5842.Nagata, K.; Itoh, H.; Katada, T.; Takenaka, K.; Ui, M.; Kaziro, Y.; Nozawa, Y.: Purification, identification, and characterization of two GTP-binding proteins with molecular weights of 25,000 and 21,000 in human platelet cytosol: one is the rap1/smg21/Krev-1 protein and the other is a novel GTP-binding protein. J. Biol. Chem. 264: 17000-17005, 1989.
[0015255]5843.Nagata, K.; Satoh, T.; Itoh, H.; Kozasa, T.; Okano, Y.; Doi, T.; Kaziro, Y.; Nozawa, Y.: The ram: a novel low molecular weight GTP-binding protein cDNA from a rat megakaryocyte library. FEBS Lett. 275: 29-32, 1990.
[0015256]5844.Seabra, M. C.; Ho, Y. K.; Anant, J. S.: Deficient geranylgeranylation of Ram/Rab27 in choroideremia. J. Biol. Chem. 270: 24420-24427, 1995.
[0015257]5845.Tolmachova, T.; Ramalho, J. S.; Anant, J. S.; Schultz, R. A.; Huxley, C. M.; Seabra, M. C.: Cloning, mapping and characterization of the human RAB27A gene. Gene 239: 109-116, 1999.
[0015258]5846.Wilson, S. M.; Yip, R.; Swing, D. A.; O'Sullivan, T. N.; Zhang, Y.; Novak, E. K.; Swank, R. T.; Russell, L. B.; Copeland, N. G.; Jenkins, N. A.: A mutation in Rab27a causes the vesicle transport defects observed in ashen mice. Proc. Nat. Acad. Sci. 97: 7933-7938, 2000.
[0015259]5847.Kallmann, F. J.; Schoenfeld, W. A.; Barrera, S. E.: The genetic aspects of primary eunuchoidism. Am. J. Ment. Defic. 48: 203-236, 1944.
[0015260]5848.De Boulle, K.; Verkerk, A. J. M. H.; Reyniers, E.; Vits, L.; Hendrickx, J.; Van Roy, B.; Van Den Bos, F.; de Graaff, E.; Oostra, B. A.; Willems, P. J.: A point mutation in the FMR-1 gene associated with fragile X mental retardation. Nature Genet. 3: 31-35, 1993.
[0015261]5849.de Vries, B. B. A.; Fryns, J.-P.; Butler, M. G.; Canziani, F.; Wesby-van Swaay, E.; van Hemel, J. O.; Oostra, B. A.; Halley, D. J. J.; Niermeijer, M. F.: Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype. J. Med. Genet. 30: 761-766, 1993.
[0015262]5850.de Vries, B. B. A.; Robinson, H.; Stolte-Dijkstra, I.; Tjon Pian Gi, C. V.; Dijkstra, P. F.; van Doorn, J.; Halley, D. J. J.; Oostra, B. A.; Turner, G.; Niermeijer, M. F.: General overgrowth in the fragile X syndrome: variability in the phenotypic expression of the FMR1 gene mutation. J. Med. Genet. 32: 764-769, 1995.
[0015263]5851.Devys, D.; Biancalana, V.; Rousseau, F.; Boue, J.; Mandel, J. L.; Oberle, I.: Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development. Am. J. Med. Genet. 43: 208-216, 1992.
[0015264]5852.Devys, D.; Lutz, Y.; Rouyer, N.; Bellocq, J.-P.; Mandel, J.-L. : The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation. Nature Genet. 4: 335-340, 1993.
[0015265]5853.Dombrowski, C.; Levesque, S.; Morel, M. L.; Rouillard, P.; Morgan, K.; Rousseau, F.: Premutation and intermediate-size FMR1 alleles in 10 572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles. Hum. Molec. Genet. 11: 371-378, 2002.
[0015266]5854.Dreesen, J. C. F. M.; Geraedts, J. P. M.; Dumoulin, J. C. M.; Evers, J. L. H.; Pieters, M. H. E. C.: RS46 (DXS548) genotyping of reproductive cells: approaching preimplantation testing of the fragile-X syndrome. Hum. Genet. 96: 323-329, 1995.
[0015267]5855.Dutch-Belgian Fragile X Consortium: Fmr1 knockout mice: a model to study fragile X mental retardation. Cell 78: 23-33, 1994.
[0015268]5856.Eberhart, D. E.; Malter, H. E.; Feng, Y.; Warren, S. T.: The fragile X mental retardation protein is a ribonucleoprotein containing both nuclear localization and nuclear export signals. Hum. Molec. Genet. 5: 1083-1091, 1996.
[0015269]5857.Eichler, E. E.; Nelson, D. L.: Genetic variation and evolutionary stability of the FMR1 CGG repeat in six closed human populations. Am. J. Med. Genet. 64: 220-225, 1996.
[0015270]5858.Eichler, E. E.; Richards, S.; Gibbs, R. A.; Nelson, D. L.: Fine structure of the human FMR1 gene. Hum. Molec. Genet. 2: 1147-1153, 1993.
[0015271]5859.Escalante, J. A.; Grunspun, H.; Frota-Pessoa, O.: Severe sex-linked mental retardation. J. Genet. Hum. 19: 137-140, 1971.
[0015272]5860.Faust, C. J.; Verkerk, A. J. M. H.; Wilson, P. J.; Morris, C. P.; Hopwood, J. J.; Oostra, B. A.; Herman, G. E.: Genetic mapping on the mouse X chromosome of human cDNA clones for the fragile X and Hunter syndromes. Genomics 12: 814-817, 1992.
[0015273]5861.Feng, Y.; Absher, D.; Eberhart, D. E.; Brown, V.; Malter, H. E.; Warren, S. T.: FMRP associates with polyribosomes as an mRNP, and the I304N mutation of severe fragile X syndrome abolishes this association. Molec. Cell 1: 109-118, 1997.
[0015274]5862.Filippi, G.; Arslanian, A.; Dagna-Bricarelli, F.; Pierluigi, M.; Grasso, M.; Rinaldi, A.; Rocchi, M.; Siniscalco, M.: Premutation for the Martin-Bell syndrome analyzed in a large pedigree segregating also for G6PD-deficiency. I. A working hypothesis on the nature of the FRAX-mutations. Am. J. Med. Genet. 40: 387-394, 1991.
[0015275]5863.Filippi, G.; Rinaldi, A.; Archidiacono, N.; Rocchi, M.; Balazs, I.; Siniscalco, M.: Linkage between G6PD and fragile-X syndrome. Am. J. Med. Genet. 15: 113-119, 1983.
[0015276]5864.Follette, P. J.; Laird, C. D.: Estimating the stability of the proposed imprinted state of the fragile-X mutation when transmitted by females. Hum. Genet. 88: 335-343, 1992.
[0015277]5865.Froster-Iskenius, U.; Schulze, A.; Schwinger, E.: Transmission of the marker X syndrome trait by unaffected males: conclusions from studies of large families. Hum. Genet. 67: 419-427, 1984.
[0015278]5866.Fryns, J. P.: The fragile X syndrome: a study of 83 families. Clin. Genet. 26: 497-528, 1984.
[0015279]5867.Fryns, J. P.: Personal Communication. Leuven, Belgium 5/28/1993.
[0015280]5868.Fryns, J. P.; Van Den Berghe, H.: Transmission of fragile(X)(q27) from normal male(s). Hum. Genet. 61: 262-263, 1982.
[0015281]5869.Fu, Y.-H.; Kuhl, D. P. A.; Pizzuti, A.; Pieretti, M.; Sutcliffe, J. S.; Richards, S.; Verkerk, A. J. M. H.; Holden, J. J. A.; Fenwick, R. G., Jr.; Warren, S. T.; Oostra, B. A.; Nelson, D. L.; Caskey, C. T.: Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 67: 1047-1058, 1991.
[0015282]5870.Fulchignoni-Lataud, M. C.; Olchwang, S.; Serre, J. L.: The fragile X CGG repeat shows a marked level of instability in hereditary non-polyposis colorectal cancer patients. Europ. J. Hum. Genet. 5: 89-93, 1997.
[0015283]5871.Gedeon, A. K.; Baker, E.; Robinson, H.; Partington, M. W.; Gross, B.; Manca, A.; Korn, B.; Poustka, A.; Yu, S.; Sutherland, G. R.; Mulley, J. C.: Fragile X syndrome without CCG amplification has an FMR1 deletion. Nature Genet. 1: 341-344, 1992.
[0015284]5872.Gerald, P. S.: Personal Communication. Boston, Mass. 8/12/1983.
[0015285]5873.Gerald, P. S.: X-linked mental retardation and an X-chromosome marker. (Editorial) New Eng. J. Med. 303: 696-697, 1980.
[0015286]5874.Giannelli, F.; Morris, A. H.; Garrett, C.; Daker, M.; Thurston, C.; Smith, C. A. B.: Genetic heterogeneity of X-linked mental retardation with fragile X: association of tight linkage to factor IX and incomplete penetrance in males. Ann. Hum. Genet. 51: 107-124, 1987.
[0015287]5875.Giraud, F.; Ayme, S.; Mattei, J. F.; Mattei, M. G.: Constitutional chromosomal breakage. Hum. Genet. 34: 125-136, 1976.
[0015288]5876.Glover, T. W.: FUdR induction of the X-chromosome fragile site: evidence for the mechanism of folic acid and thymidine inhibition. Am. J. Hum. Genet. 33: 234-242, 1981.
[0015289]5877.Goldman, A.; Krause, A.; Jenkins, T.: Fragile X syndrome occurs in the South African black population. (Editorial) S. Afr. Med. J. 87: 418-420, 1997.
[0015290]5878.Goodman, R. M.; Strauss, S.; Friedman, E.; Chaki, R.: Ovarian size in the fragile X mental retardation syndrome. Am. J. Med. Genet. 26: 17-18, 1987.
[0015291]5879.Gould, E. L.; Loesch, D. Z.; Martin, M. J.; Hagerman, R. J.; Armstrong, S. M.; Huggins, R. M.: Melatonin profiles and sleep characteristics in boys with fragile X syndrome: a preliminary study. Am. J. Med. Genet. 95: 307-315, 2000.
[0015292]5880.Ellison, J.; Passage, M.; Yu, L.-C.; Yen, P.; Mohandas, T. K.; Shapiro, L.: Directed isolation of human genes that escape X inactivation. Somat. Cell Molec. Genet. 18: 259-268, 1992.
[0015293]5881.Ellison, J. W.; Ramos, C.; Yen, P. H.; Shapiro, L. J.: Structure and expression of the human pseudoautosomal gene XE7. Hum. Molec. Genet. 1: 691-696, 1992.
[0015294]5882.Amar, L. C.; Dandolo, L.; Hanauer, A.; Cook, A. R.; Arnaud, D.; Mandel, J. L.; Avner, P.: Conservation and reorganization of loci on the mammalian X chromosome: a molecular framework for the identification of homologous subchromosomal regions in man and mouse. Genomics 2: 220-230, 1988.
[0015295]5883.Chin, L.-S.; Li, L.; Ferreira, A.; Kosik, K. S.; Greengard, P. : Impairment of axonal development and of synaptogenesis in hippocampal neurons of synapsin I-deficient mice. Proc. Nat. Acad. Sci. 92: 9230-9234, 1995.
[0015296]5884.Klagges, B. R. E.; Heimbeck, G.; Godenschwege, T. A.; Hofbauer, A.; Pflugfelder, G. O.; Reifegerste, R.; Reisch, D.; Schaupp, M.; Buchner, S.; Buchner, E.: Invertebrate synapsins: a single gene codes for several isoforms in Drosophila. J. Neurosci. 16: 3154-3165, 1996.
[0015297]5885.Li, L.; Chin, L.-S.; Shupliakov, O.; Brodin, L.; Sihra, T. S.; Hvalby, O.; Jensen, V.; Zheng, D.; McNamara, J. O.; Greengard, P.; Andersen, P.: Impairment of synaptic vesicle clustering and of synaptic transmission, and increased seizure propensity, in synapsin I-deficient mice. Proc. Nat. Acad. Sci. 92: 9235-9239, 1995.
[0015298]5886.Sudhof, T. C.: The structure of the human synapsin I gene and protein. J. Biol. Chem. 265: 7849-7852, 1990.
[0015299]5887.Banting, G. S.; Pym, B.; Goodfellow, P. N.: Biochemical analysis of an antigen produced by both human sex chromosomes. EMBO J. 4: 1967-1972, 1985.
[0015300]5888.Harada, T.; Harada, C.; Watanabe, M.; Inoue, Y.; Sakagawa, T.; Nakayama, N.; Sasaki, S.; Okuyama, S.; Watase, K.; Wada, K.; Tanaka, K.: Functions of the two glutamate transporters GLAST and GLT-1 in the retina. Proc. Nat. Acad. Sci. 95: 4663-4666, 1998.
[0015301]5889.Agulnik, A. I.; Mitchell, M. J.; Lerner, J. L.; Woods, D. R.; Bishop, C. E.: A mouse Y chromosome gene encoded by a region essential for spermatogenesis and expression of male-specific minor histocompatibility antigens. Hum. Molec. Genet. 3: 873-878, 1994.
[0015302]5890.Agulnik, A. I.; Mitchell, M. J.; Mattei, M.-G.; Borsani, G.; Avner, P. A.; Lerner, J. L.; Bishop, C. E.: A novel X gene with a widely transcribed Y-linked homologue escapes X-inactivation in mouse and human. Hum. Molec. Genet. 3: 879-884, 1994.
[0015303]5891.Lingenfelter, P. A.; Adler, D. A.; Poslinski, D.; Thomas, S.; Elliott, R. W.; Chapman, V. M.; Disteche, C. M.: Escape from X inactivation of Smcx is preceded by silencing during mouse development. Nature Genet. 18: 212-213, 1998.
[0015304]5892.Wu, J.; Ellison, J.; Salido, E.; Yen, P.; Mohandas, T.; Shapiro, L. J.: Isolation and characterization of XE169, a novel human gene that escapes X-inactivation. Hum. Molec. Genet. 3: 153-160, 1994.
[0015305]5893.Wu, J.; Salido, E. C.; Yen, P. H.; Mohandas, T. K.; Heng, H. H. Q.; Tsui, L.-C.; Park, J.; Chapman, V. M.; Shapiro, L. J.: The murine Xe169 gene escapes X-inactivation like its human homologue. Nature Genet. 7: 491-496, 1994.
[0015306]5894.Evans, H. J.; Buckton, K. E.; Spowart, G.; Carothers, A. D.: Heteromorphic X chromosomes in 46,XX males: evidence for the involvement of X-Y interchange. Hum. Genet. 49: 11-31, 1979.
[0015307]5895.Hu, X.; Burghes, A. H. M.; Ray, P. N.; Thompson, M. W.; Murphy, E. G.; Worton, R. G.: Partial gene duplication in Duchenne and Becker muscular dystrophies. J. Med. Genet. 25: 369-376, 1988.
[0015308]5896.Bode, H. H.; Crawford, J. D.: Nephrogenic diabetes insipidus in North America--the Hopewell hypothesis. New Eng. J. Med. 280: 750-754, 1969.
[0015309]5897.Mills, E. L.; Rholl, K. S.; Quie, P. G.: X-linked inheritance in females with chronic granulomatous disease. J. Clin. Invest. 66: 332-340, 1980.
[0015310]5898.Muller, C. R.; Migl, B.; Ropers, H.-H.: X-linked steroid sulfatase: evidence for different gene-dosage in males and females. Hum. Genet. 54: 197-199, 1980.
[0015311]5899.Berger, W.; van de Pol, D.; Warburg, M.; Gal, A.; Bleeker-Wagemakers, L.; de Silva, H.; Meindl, A.; Meitinger, T.; Cremers, F.; Ropers, H.-H.: Mutations in the candidate gene for Norrie disease. Hum. Molec. Genet. 1: 461-465, 1992.
[0015312]5900.Bleeker-Wagemakers, L. M.; Friedrich, U.; Gal, A.; Wienker, T. F.; Warburg, M.; Ropers, H.-H.: Close linkage between Norrie disease, a cloned DNA sequence from the proximal short arm, and the centromere of the X chromosome. Hum. Genet. 71: 211-214, 1985.
[0015313]5901.Chen, Z.-Y.; Battinelli, E. M.; Hendriks, R. W.; Powell, J. F.; Middleton-Price, H.; Sims, K. B.; Breakefield, X. O.; Craig, I. W. : Norrie disease gene: characterization of deletions and possible function. Genomics 16: 533-535, 1993.
[0015314]5902.Chen, Z.-Y.; Battinelli, E. M.; Woodruff, G.; Young, I.; Breakefield, X. O.; Craig, I. W.: Characterization of a mutation within the NDP gene in a family with a manifesting female carrier. Hum. Molec. Genet. 2: 1727-1729, 1993.
[0015315]5903.Chen, Z.-Y.; Hendriks, R. W.; Jobling, M. A.; Powell, J. F.; Breakefield, X. O.; Sims, K. B.; Craig, I. W.: Isolation and characterization of a candidate gene for Norrie disease. Nature Genet. 1: 204-208, 1992.
[0015316]5904.Chen, Z.-Y.; Sims, K. B.; Coleman, M.; Donnai, D.; Monaco, A.; Breakefield, X. O.; Davies, K. E.; Craig, I. W.: Characterization of a YAC containing part or all of the Norrie disease locus. Hum. Molec. Genet. 1: 161-164, 1992.
[0015317]5905.Clarke, E.: 'Pseudo-glioma' in both eyes. Trans. Ophthal. Soc. U.K. 18: 136-138, 1898.
[0015318]5906.Dahlberg-Parrow, R.: Congenital sex-linked pseudoglioma and grave mental deficiency. Acta Ophthal. 34: 250-254, 1956.
[0015319]5907.Diergaarde, P. J.; Wieringa, B.; Bleeker-Wagemakers, E. M.; Sims, K. B.; Breakefield, X. O.; Ropers, H.-H.: Physical fine-mapping of a deletion spanning the Norrie gene. Hum. Genet. 84: 22-26, 1989.
[0015320]5908.Donnai, D.; Mountford, R. C.; Read, A. P.: Norrie disease resulting from a gene deletion: clinical features and DNA studies. J. Med. Genet. 25: 73-78, 1988.
[0015321]5909.Duke-Elder, J. R.: Pseudoglioma in children: aspects of clinical and pathological diagnosis. Sth. Med. J. 51: 754-759, 1958.
[0015322]5910.Forssman, H.: Mental deficiency and pseudoglioma, a syndrome inherited as an Xlinked recessive. Am. J. Ment. Defic. 64: 984-987, 1960.
[0015323]5911.Fuchs, S.; Kellner, U.; Wedemann, H.; Gal, A.: Missense mutation (Arg121Trp) in the Norrie disease gene associated with X-linked exudative vitreoretinopathy. Hum. Mutat. 6: 257-259, 1995.
[0015324]5912.Fuchs, S.; Xu, S. Y.; Caballero, M.; Salcedo, M.; La O, A.; Wedemann, H.; Gal, A.: A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease. Hum. Molec. Genet. 3: 655-656, 1994.
[0015325]5913.Collins, F. A.; Murphy, D. L.; Reiss, A. L.; Sims, K. B.; Lewis, J. G.; Freund, L.; Karoum, F.; Zhu, D.; Maumenee, I. H.; Antonarakis, S. E.: Clinical, biochemical, and neuropsychiatric evaluation of a patient with a contiguous gene syndrome due to a microdeletion Xp11.3 including the Norrie disease locus and monoamine oxidase (MAOA and MAOB) genes. Am. J. Med. Genet. 42: 127-134, 1992.
[0015326]5914.Fullwood, P.; Jones, J.; Bundey, S.; Dudgeon, J.; Fielder, A. R.; Kilpatrick, M. W.: X linked exudative vitreoretinopathy: clinical features and genetic linkage analysis. Brit. J. Ophthal. 77: 168-170, 1993.
[0015327]5915.Gal, A.; Bleeker-Wagemakers, L.; Wienker, T. F.; Warburg, M.; Ropers, H.-H.: Localization of the gene for Norrie disease by linkage to the DXS7 locus. (Abstract) Cytogenet. Cell Genet. 40: 633, 1985.
[0015328]5916.Gal, A.; Stolzenberger, C.; Wienker, T.; Wieacker, P.; Ropers, H.-H.; Friedrich, U.; Bleeker-Wagemakers, L.; Pearson, P.; Warburg, M.: Norrie's disease: close linkage with genetic markers from the proximal short arm of the X chromosome. Clin. Genet. 27: 282-283, 1985.
[0015329]5917.Gal, A.; Uhlhaas, S.; Glaser, D.; Grimm, T.: Prenatal exclusion of Norrie disease with flanking DNA markers. Am. J. Med. Genet. 31: 449-453, 1988.
[0015330]5918.Harendra de Silva, D. G.; de Silva, D. B. K.: Norrie's disease in an Asian family. Brit. J. Ophthal. 72: 62-64, 1988.
[0015331]5919.Bode, H. H.; Miettinen, O. S.: Nephrogenic diabetes insipidus: absence of close linkage with Xg. Am. J. Hum. Genet. 22: 221-227, 1970.
[0015332]5920.Calmont, A.; Reichwald, K.; Ronco, P.; Rossert, J.: Identification of a short cis-acting element in the human vasopressin type 2 receptor gene which confers high-level expression of a reporter gene specifically in collecting duct cells. Molec. Endocr. 14: 1682-1695, 2000. 1. Abelson, H.: Nephrogenic diabetes insipidus. Pediat. Res. 2: 271-282, 1968.
[0015333]5921.Cannon, J. F.: Diabetes insipidus: clinical and experimental studies with consideration of genetic relationships. Arch. Intern. Med. 96: 215-272, 1955.
[0015334]5922.Carter, C.; Simpkiss, M. J.: The carrier state in nephrogenic diabetes insipidus. Lancet II: 1069-1073, 1956.
[0015335]5923.Cheong, H. I.; Park, H. W.; Ha, I. S.; Moon, H. N.; Choi, Y.; Ko, K. W.; Jun, J. K.: Six novel mutations in the vasopressin V2 receptor gene causing nephrogenic diabetes insipidus. Nephron 75: 431-437, 1997.
[0015336]5924.Crawford, J. D.; Kennedy, G. C.: Chlorothiazid in diabetes insipidus. Nature 183: 891-892, 1959.
[0015337]5925.Friedman, E.; Bale, A. E.; Carson, E.; Boson, W. L.; Nordenskjold, M.; Ritzen, M.; Ferriera, P. C.; Jammal, A.; De Marco, L.: Nephrogenic diabetes insipidus: an X chromosome-linked dominant inheritance pattern with a vasopressin type 2 receptor gene that is structurally normal. Proc. Nat. Acad. Sci. 91: 8457-8461, 1994.
[0015338]5926.Holtzman, E. J.; Harris, H. W., Jr.; Kolakowski, L. F., Jr.; Guay-Woodford, L. M.; Botelho, B.; Ausiello, D. A.: A molecular defect in the vasopressin V2-receptor gene causing nephrogenic diabetes insipidus. New Eng. J. Med. 328: 1534-1537, 1993.
[0015339]5927.Holtzman, E. J.; Kolakowski, L. F., Jr.; O'Brien, D.; Crawford, J. D.; Ausiello, D. A.: A null mutation in the vasopressin V2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus in the Hopewell kindred. Hum. Molec. Genet. 2: 1201-1204, 1993.
[0015340]5928.Inaba, S.; Hatakeyama, H.; Taniguchi, N.; Miyamori, I.: The property of a novel V2 receptor mutant in a patient with nephrogenic diabetes insipidus. J. Clin. Endocr. Metab. 86: 381-385, 2001.
[0015341]5929.Jans, D. A.; van Oost, B. A.; Ropers, H. H.; Fahrenholz, F.: Derivatives of somatic cell hybrids which carry the human gene locus for nephrogenic diabetes insipidus (NDI) express functional vasopressin renal V2-type receptors. J. Biol. Chem. 265: 15379-15382, 1990.
[0015342]5930.Kambouris, M.; Dlouhy, S. R.; Trofatter, J. A.; Conneally, P. M.; Hodes, M. E.: Localization of the gene for X-linked nephrogenic diabetes insipidus to Xq28. Am. J. Med. Genet. 29: 239-246, 1988.
[0015343]5931.Kambouris, M.; Hodes, M. E.; Conneally, P. M.; Trofatter, J.; Dlouhy, S. R.: Nephrogenic diabetes insipidus linked to Xq28. (Abstract) Cytogenet. Cell Genet. 46: 636 only, 1987.
[0015344]5932.Knoers, N.; van den Heyden, H.; van Oost, B.; Monnens, L.; Willems, J.; Ropers, H.: Tight linkage between nephrogenic diabetes insipidus and DXS52. (Abstract) Cytogenet. Cell Genet. 46: 640 only, 1987.
[0015345]5933.Knoers, N.; van den Heyden, H.; van Oost, B. A.; Monnens, L.; Willems, J.; Ropers, H. H.: Three-point linkage analysis using multiple DNA polymorphic markers in families with X-linked nephrogenic diabetes insipidus. Genomics 4: 434-437, 1989.
[0015346]5934.Knoers, N.; van der Heyden, H.; van Oost, B. A.; Ropers, H. H.; Monnens, L.; Willems, J.: Nephrogenic diabetes insipidus: close linkage with markers from the distal long arm of the human X chromosome. Hum. Genet. 80: 31-38, 1988.
[0015347]5935.Kobrinsky, N. L.; Doyle, J. J.; Israels, E. D.; Winter, J. S. D.; Cheang, M. S.; Walker, R. D.; Bishop, A. J.: Absent factor VIII response to synthetic vasopressin analogue (DDAVP) in nephrogenic diabetes insipidus. Lancet I: 1293-1294, 1985.
[0015348]5936.Libber, S.; Harrison, H.; Spector, D.: Treatment of nephrogenic diabetes insipidus with prostaglandin synthesis inhibitors. J. Pediat. 108: 305-311, 1986.
[0015349]5937.Lolait, S. J.; O'Carroll, A.-M.; McBride, O. W.; Konig, M.; Morel, A.; Brownstein, M. J.: Cloning and characterization of a vasopressin V2 receptor and possible link to nephrogenic diabetes insipidus. Nature 357: 336-339, 1992.
[0015350]5938.Mattei, M.-G.; Matterson, J.; Chen, J. W.; Williams, M. A.; Fukuda, M.: Two human lysosomal membrane glycoproteins, h-lamp-1 and h-lamp-2, are encoded by genes localized to chromosome 13q34 and chromosome Xq24-25, respectively. J. Biol. Chem. 265: 7548-7551, 1990.
[0015351]5939.Schleutker, J.; Haataja, L.; Renlund, M.; Puhakka, L.; Viitala, J.; Peltonen, L.; Aula, P.: Confirmation of the chromosomal localization of human lamp genes and their exclusion as candidate genes for Salla disease. Hum. Genet. 88: 95-97, 1991.
[0015352]5940.Andreae, S.; Piras, F.; Burdin, N.; Triebel, F.: Maturation and activation of dendritic cells induced by lymphocyte activation gene-3 (CD223). J. Immun. 168: 3874-3880, 2002.
[0015353]5941.Triebel, F.; Jitsukawa, S.; Baixeras, E.; Roman-Roman, S.; Genevee, C.; Viegas-Pequignot, E.; Hercend, T.: LAG-3, a novel lymphocyte activation gene closely related to CD4. J. Exp. Med. 171: 1393-1405, 1990.
[0015354]5942.Bierer, B. E.; Nishimura, Y.; Burakoff, S. J.; Smith, B. R.: Phenotypic and functional characterization of human cytolytic T cells lacking expression of CD5. J. Clin. Invest. 81: 1390-1397, 1988.
[0015355]5943.Gershon, R. K.: Personal Communication. New Haven, Conn. 12/4/1978.
[0015356]5944.Hecht, B. K.; Kipps, T.; Johnston, N. K.; Cannizzaro, L. A.: Leu 1 (CD5) cell surface antigen mapped to 11q13 by in situ hybridization. (Abstract) Cytogenet. Cell Genet. 51: 1012 only, 1989.
[0015357]5945.Jones, N. H.; Clabby, M. L.; Dialynas, D. P.; Huang, H.-J. S.; Herzenberg, L. A.; Strominger, J. L.: Isolation of complementary DNA clones encoding the human lymphocyte glycoprotein T1/Leu-1. Nature 323: 346-349, 1986.
[0015358]5946.LeClair, K. P.; Rabin, M.; Nesbitt, M. N.; Pravtcheva, D.; Ruddle, F. H.; Palfree, R. G. E.; Bothwell, A.: Murine Ly-6 multigene family is located on chromosome 15. Proc. Nat. Acad. Sci. 84: 1638-1642, 1987.
[0015359]5947.Ravetch, J. V.; Lanier, L. L.: Immune inhibitory receptors. Science 290: 84-89, 2000.
[0015360]5948.van Dongen, J. J. M.; Wolvers-Tettero, I. L. M.; Versnel, M. A.; Westerveld, A.; Geurts van Kessel, A. H. M.: Assignment of the genes coding for the T-cell antigens CD7 (Tp41), CD5 (T1) and CD4 (T4) to human chromosome 17, 11, 12 respectively. (Abstract) Cytogenet. Cell Genet. 40: 767 only, 1985.
[0015361]5949.Fischer, A.; Durandy, A.; Sterkers, G.; Griscelli, C.: Role of the LFA-1 molecule in cellular interactions required for antibody production in humans. J. Immun. 136: 3198-3203, 1986.
[0015362]5950.Marlin, S. D.; Morton, C. C.; Anderson, D. C.; Springer, T. A. : LFA-1 immunodeficiency disease: definition of the genetic defect and chromosomal mapping of alpha and beta subunits of the lymphocyte function-associated antigen 1 (LFA-1) by complementation in hybrid cells. J. Exp. Med. 164: 855-867, 1986.
[0015363]5951.Annunen, S.; Korkko, J.; Czarny, M.; Warman, M. L.; Brunner, H. G.; Kaariainen, H.; Mulliken, J. B.; Tranebjaerg, L.; Brooks, D. G.; Cox, G. F.; Cruysberg, J. R.; Curtis, M. A.; and 13 others: Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. Am. J. Hum. Genet. 65: 974-983, 1999.
[0015364]5952.Shanske, A. L.; Bogdanow, A.; Shprintzen, R. J.; Marion, R. W. : The Marshall syndrome: report of a new family and review of the literature. Am. J. Med. Genet. 70: 52-57, 1997.
[0015365]5953.Warman, M. L.; Tiller, G. E.; Griffith, A. J.: Reply to Shanske et al. (Letter) Am. J. Hum. Genet. 63: 1559-1561, 1998.
[0015366]5954.Futscher, B. W.; Oshiro, M. M.; Wozniak, R. J.; Holtan, N.; Hanigan, C. L.; Duan, H.; Domann, F. E.: Role for DNA methylation in the control of cell type-specific maspin expression. Nature Genet. 31: 175-179, 2002.
[0015367]5955.Ngamkitidechakul, C.; Burke, J. M.; O'Brien, W. J.; Twining, S. S.: Maspin: synthesis by human cornea and regulation of in vitro stromal cell adhesion to extracellular matrix. Invest. Ophthal. Vis. Sci. 42: 3135-3141, 2001.
[0015368]5956.Zou, Z.; Anisowicz, A.; Hendrix, M. J. C.; Thor, A.; Neveu, M.; Sheng, S.; Rafidi, K.; Seftor, E.; Sager, R.: Maspin, a serpin with tumor-suppressing activity in human mammary epithelial cells. Science 263: 526-529, 1994.
[0015369]5957.Johnson, T. L.; Sakaguchi, A. Y.; Lalley, P. A.; Leach, R. J.: Chromosomal assignment in mouse of matrix GLA protein and bone GLA protein genes. Genomics 11: 770-772, 1991.
[0015370]5958.Blackwood, E.; Eisenman, R. N.: Max: a helix-loop-helix zipper protein that forms a sequence-specific DNA-binding complex with Myc. Science 251: 1211-1217, 1991.
[0015371]5959.Eisenman, R. N.: Personal Communication. Seattle, Wash. 7/27/1994.
[0015372]5960.Gilladoga, A. D.; Edelhoff, S.; Blackwood, E. M.; Eisenman, R. N.; Disteche, C. M.: Mapping of MAX to human chromosome 14 and mouse chromosome 12 by in situ hybridization. Oncogene 7: 1249-1251, 1992.
[0015373]5961.Loeffen, J. L. C. M.; Triepels, R. H.; van den Heuvel, L. P.; Schuelke, M.; Buskens, C. A. F.; Smeets, R. J. P.; Trijbels, J. M. F.; Smeitink, J. A. M.: cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed. Biochem. Biophys. Res. Commun. 253: 415-422, 1998.
[0015374]5962.Bulavin, D. V.; Higashimoto, Y.; Popoff, I. J.; Gaarde, W. A.; Basrur, V.; Potapova, O.; Appella, E.; Fornace, A. J., Jr.: Initiation of a G2/M checkpoint after ultraviolet radiation requires p38 kinase. Nature 411: 102-107, 2001.
[0015375]5963.Gould, K. L.; Moreno, S.; Tonks, N. K.; Nurse, P.: Complementation of the mitotic activator, p80(cdc25), by a human protein-tyrosine phosphatase. Science 250: 1573-1576, 1990.
[0015376]5964.Moreno, S.; Nurse, P.: Clues to action of cdc25 protein. (Letter) Nature 351: 194 only, 1991.
[0015377]5965.Raj, K.; Ogston, P.; Beard, P.: Virus-mediated killing of cells that lack p53 activity. Nature 412: 914-917, 2001. Note: Addendum: Nature 416: 202 only, 2002.
[0015378]5966.Sadhu, K.; Reed, S. I.; Richardson, H.; Russell, P.: Human homolog of fission yeast cdc25 mitotic inducer is predominantly expressed in G(2). Proc. Nat. Acad. Sci. 87: 5139-5143, 1990.
[0015379]5967.Strausfeld, U.; Labbe, J. C.; Fesquet, D.; Cavadore, J. C.; Picard, A.; Sadhu, K.; Russell, P.; Doree, M.: Dephosphorylation and activation of a p34(cdc2)/cyclin B complex in vitro by human CDC25 protein. Nature 351: 242-245, 1991.
[0015380]5968.Taviaux, S. A.; Demaille, J. G.: Localization of human cell cycle regulatory genes CDC25C to 5q31 and WEE1 to 11p15.3-11p.15.1 by fluorescence in situ hybridization. Genomics 15: 194-196, 1993.
[0015381]5969.Willman, C. L.; Sever, C. E.; Pallavicini, M. G.; Harada, H.; Tanaka, N.; Slovak, M. L.; Yamamoto, H.; Harada, K.; Meeker, T. C.; List, A. F.; Taniguchi, T.: Deletion of IRF-1, mapping to chromosome 5q31.1, in human leukemia and preleukemic myelodysplasia. Science 259: 968-971, 1993.
[0015382]5970.Yazawa, I.; Nukina, N.; Hashida, H.; Goto, J.; Yamada, M.; Kanazawa, I.: Abnormal gene product identified in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) brain. Nature Genet. 10: 99-103, 1995.
[0015383]5971.Board, P. G.; Coggan, M.: Polymorphism of the A subunit of coagulation factor XIII in the Pacific region: description of new phenotypes. Hum. Genet. 59: 135-136, 1981.
[0015384]5972.Beutler, E.; West, C.; Beutler, B.: Electrophoretic polymorphism of glutathione peroxidase. Ann. Hum. Genet. 38: 163-169, 1974.
[0015385]5973.Belin, V.; Cusin, V.; Viot, G.; Girlich, D.; Toutain, A.; Moncla, A.; Vekemans, M.; Le Merrer, M.; Munnich, A.; Cormier-Daire, V.: SHOX mutations in dyschondrosteosis (Leri-Weill syndrome). Nature Genet. 19: 67-69, 1998.
[0015386]5974.Fujimoto, M.; Kantaputra, P. N.; Ikegawa, S.; Fukushima, Y.; Sonta, S.; Matsuo, M.; Ishida, T.; Matsumoto, T.; Kondo, S.; Tomita, H.; Deng, H.-X.; D'urso, M.; Rinaldi, M. M.; Ventruto, V.; Takagi, T.; Nakamura, Y.; Niikawa, N.: The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32. J. Hum. Genet. 43: 32-36, 1998.
[0015387]5975.Grigelioniene, G.; Eklof, O.; Ivarsson, S. A.; Westphal, O.; Neumeyer, L.; Kedra, D.; Dumanski, J.; Hagenas, L.: Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia. Hum. Genet. 107: 145-149, 2000.
[0015388]5976.Huber, C.; Cusin, V.; Le Merrer, M.; Mathieu, M.; Sulmont, V.; Dagoneau, N.; Munnich, A.; Cormier-Daire, V.: SHOX point mutations in dyschondrosteosis. J. Med. Genet. 38: 323 only, 2001.
[0015389]5977.Ross, J. L.; Scott, C., Jr.; Marttila, P.; Kowal, K.; Nass, A.; Papenhausen, P.; Abboudi, J.; Osterman, L.; Kushner, H.; Carter, P.; Ezaki, M.; Elder, F.; Wei, F.; Chen, H.; Zinn, A. R.: Phenotypes associated with SHOX deficiency. J. Clin. Endocr. Metab. 86: 5674-5680, 2001.
[0015390]5978.Shears, D. J.; Vassal, H. J.; Goodman, F. R.; Palmer, R. W.; Reardon, W.; Superti-Furga, A.; Scambler, P. J.; Winter, R. M.: Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis. Nature Genet. 19: 70-73, 1998.
[0015391]5979.Ventruto, V.; Pisciotta, R.; Renda, S.; Fosta, B.; Rinaldi, M. M.; Stabile, M.; Cavaliere, M. L.; Esposito, M.: Multiple skeletal familial abnormalities associated with balanced reciprocal translocation 2;8(q32;p13). Am. J. Med. Genet. 16: 589-594, 1983.
[0015392]5980.Agarwal, S. K.; Guru, S. C.; Heppner, C.; Erdos, M. R.; Collins, R. M.; Park, S. Y.; Saggar, S.; Chandrasekharappa, S. C.; Collins, F. S.; Spiegel, A. M.; Marx, S. J.; Burns, A. L.: Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription. Cell 96: 143-152, 1999.
[0015393]5981.Agarwal, S. K.; Kester, M. B.; Debelenko, L. V.; Heppner, C.; Emmert-Buck, M. R.; Skarulis, M. C.; Doppman, J. L.; Kim, Y. S.; Lubensky, I. A.; Zhuang, Z.; Green, J. S.; Guru, S. C.; Manickam, P.; Olufemi, S.-E.; Liotta, L. A.; Chandrasekharappa, S. C.; Collins, F. S.; Spiegel, A. M.; Burns, A. L.; Marx, S. J.: Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states. Hum. Molec. Genet. 7: 1169-1175, 1997.
[0015394]5982.Agarwal, S. K.; Kester, M. B.; Debelenko, L. V.; Heppner, C.; Emmert-Buck, M. R.; Skarulis, M. C.; Doppman, J. L.; Kim, Y. S.; Lubensky, I. A.; Zhuang, Z.; Green, J. S.; Guru, S. C.; Manickam, P.; Olufemi, S.-E.; Liotta, L. A.; Chandrasekharappa, S. C.; Collins, F. S.; Spiegel, A. M.; Burns, A. L.; Marx, S. J.: Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states. Hum. Molec. Genet. 6: 1169-1175, 1997.
[0015395]5983.Bahn, R. S.; Scheithauer, B. W.; van Heerden, J. A.; Laws, E. R., Jr.; Horvath, E.; Gharib, H.: Nonidentical expressions of multiple endocrine neoplasia, type I, in identical twins. Mayo Clin. Proc. 61: 689-696, 1986.
[0015396]5984.Bale, A. E.; Friedman, E.; Sakaguchi, K.; Nakamura, Y.; McBride, O. W.; Spiegel, A. M.; Aurbach, G. D.; Marx, S. J.: Allelic loss in hereditary and sporadic tumors associated with MEN1. (Abstract) Am. J. Hum. Genet. 45 (suppl.): A15, 1989.
[0015397]5985.Bale, S. J.; Bale, A. E.; Marx, S. J.: Mapping of multiple endocrine neoplasia type 1 with markers on chromosome 11q. (Abstract) Cytogenet. Cell Genet. 51: 956, 1989.
[0015398]5986.Bale, S. J.; Bale, A. E.; Stewart, K.; Dachowski, L.; McBride, O. W.; Glaser, T.; Green, J. E., III; Mulvihill, J. J.; Brandi, M. L.; Sakaguchi, K.; Aurbach, G. D.; Marx, S. J.: Linkage analysis of multiple endocrine neoplasia type 1 with INT2 and other markers on chromosome 11. Genomics 4: 320-322, 1989.
[0015399]5987.Bale, S. J.; Marx, S. J.; Langfield, D.; Bale, A. E.; Mulvihill, J.; Green, J., III: Multiple endocrine neoplasia type 1 (MEN1): genetic linkage studies. (Abstract) Cytogenet. Cell Genet. 46: 575, 1987.
[0015400]5988.Ballard, H. S.; Frame, B.; Hartsock, R. J.: Familial multiple endocrine adenoma-peptic ulcer complex. Medicine 43: 481-516, 1964.
[0015401]5989.Bassett, J. H. D.; Forbes, S. A.; Pannett, A. A. J.; Lloyd, S. E.; Christie, P. T.; Wooding, C.; Harding, B.; Besser, G. M.; Edwards, C. R.; Monson, J. P.; Sampson, J.; Wass, J. A. H.; Wheeler, M. H.; Thakker, R. V.: Characterization of mutations in patients with multiple endocrine neoplasia type 1. Am. J. Hum. Genet. 62: 232-244, 1998.
[0015402]5990.Bear, J. C.; Briones-Urbina, R.; Fahey, J. F.; Farid, N. R.: Variant multiple endocrine neoplasia I (MEN I-Burin): further studies and non-linkage to HLA. Hum. Hered. 35: 15-20, 1985.
[0015403]5991.Betts, J. B.; O'Malley, B. P.; Rosenthal, F. D.: Hyperparathyroidism: a prerequisite for Zollinger-Ellison syndrome in multiple endocrine adenomatosis type 1--report of a further family and a review of the literature. Quart. J. Med. 49: 69-76, 1980.
[0015404]5992.Boni, R.; Vortmeyer, A. O.; Pack, S.; Park, W.-S.; Burg, G.; Hofbauer, G.; Darling, T.; Liotta, L.; Zhuang, Z.: Somatic mutations of the MEN1 tumor suppressor gene detected in sporadic angiofibromas. (Letter) J. Invest. Derm. 111: 539-540, 1998.
[0015405]5993.Bordi, C.; Corleto, V. D.; Azzoni, C.; Pizzi, S.; Ferraro, G.; Gibril, F.; Delle Fave, G.; Jensen, R. T.: The antral mucosa as a new site for endocrine tumors in multiple endocrine neoplasia type 1 and Zollinger-Ellison syndromes. J. Clin. Endocr. Metab. 86: 2236-2242, 2001.
[0015406]5994.Kinoshita, A.; Saito, T.; Tomita, H.; Makita, Y.; Yoshida, K.; Ghadami, M.; Yamada, K.; Kondo, S.; Ikegawa, S.; Nishimura, G.; Fukushima, Y.; Nakagomi, T.; Saito, H.; Sugimoto, T.; Kamegaya, M.; Hisa, K.; Murray, J. C.; Taniguchi, N.; Niikawa, N.; Yoshiura, K.: Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease. Nature Genet. 26: 19-20, 2000.
[0015407]5995.Joyner, A. L.; Herrup, K.; Auerbach, B. A.; Davis, C. A.; Rossant, J.: Subtle cerebellar phenotype in mice homozygous for a targeted deletion of the En-2 homeobox. Science 251: 1239-1243, 1991.
[0015408]5996.Joyner, A. L.; Skarnes, W. C.; Rossant, J.: Production of a mutation in mouse En-2 gene by homologous recombination in embryonic stem cells. Nature 338: 153-156, 1989.
[0015409]5997.Poole, S. J.; Law, M. L.; Kao, F.-T.; Lau, Y.-F.: Isolation and chromosomal localization of the human En-2 gene. Genomics 4: 225-231, 1989.
[0015410]5998.Board, P. G.; Reid, M.; Serjeantson, S.: The gene for coagulation factor XIII A subunit (F13A) is distal to HLA on chromosome 6. Hum. Genet. 67: 406-408, 1984.
[0015411]5999.Board, P. G.; Webb, G. C.; McKee, J.; Ichinose, A.: Localization of the coagulation factor XIII A subunit gene (F13A) to chromosome bands 6p24-p25. Cytogenet. Cell Genet. 48: 25-27, 1988.
[0015412]6000.Butten, A. F. H.: Congenital deficiency of factor XIII (fibrin-stabilizing factor): report of a case and review of the literature. Am. J. Med. 43: 751-761, 1967.
[0015413]6001.Castle, S.; Board, P. G.; Anderson, R. A. M.: Genetic heterogeneity of factor XIII deficiency: first description of unstable A subunits. Brit. J. Haemat. 48: 337-342, 1981.
[0015414]6002.Catto, A. J.; Kohler, H. P.; Bannan, S.; Stickland, M.; Carter, A.; Grant, P. J.: Factor XIII val34-to-leu: a novel association with primary intracerebral hemorrhage. Stroke 29: 813-816, 1998.
[0015415]6003.Coggan, M.; Baker, R.; Miloszewski, K.; Woodfield, G.; Board, P.: Mutations causing coagulation factor XIII subunit A deficiency: characterization of the mutant proteins after expression in yeast. Blood 85: 2455-2460, 1995.
[0015416]6004.Duckert, F.: Factor XIII Deficiency. Proc. 10th Int. Cong. Soc. Haematol., Stockholm. (pub.) 1964.
[0015417]6005.Duckert, F.; Jung, E.; Shmerling, D. H.: A hitherto undescribed congenital haemorrhagic diathesis probably due to fibrin stabilizing factor deficiency. Thromb. Diath. Haemorrh. 5: 179-186, 1960.
[0015418]6006.Eiberg, H.; Mohr, J.; Nielsen, L. S.: Linkage relationships of human coagulation factor XIIIB. (Abstract) Cytogenet. Cell Genet. 37: 463 only, 1984.
[0015419]6007.Eiberg, H.; Nielsen, L. S.; Mohr, J.: Confirmation of F13A assignment and sequence information concerning F13A-HLA-GLO. Clin. Genet. 26: 385-388, 1984.
[0015420]6008.Fisher, S.; Rikover, M.; Naor, S.: Factor XIII deficiency with severe hemorrhagic diathesis. Blood 28: 34-39, 1966.
[0015421]6009.Forman, W. B.; Byer, R.; Hadady, M.; Krill, C.; Lubin, A.: Congenital fibrin stabilizing factor deficiency (FSF, XIII): evidence for dys-FSF. (Abstract) Blood 50 (suppl. 1): 266 only, 1977.
[0015422]6010.Francis, J. L.; Todd, P. J.: Factor XIII deficiency: a family study by measurement of factor XIII subunits A and S. Acta Haemat. 62: 167-172, 1979.
[0015423]6011.Franco, R. F.; Reitsma, P. H.; Lourenco, D.; Maffei, F. H.; Morelli, V.; Tavella, M. H.; Araujo, A. G.; Piccinato, C. E.; Zago, M. A.: Factor XIII val34-to-leu is a genetic factor involved in the aetiology of venous thrombosis. Thromb. Haemost. 81: 676-679, 1999.
[0015424]6012.Fried, K.; Kaufman, S.; Beer, S.: Factor XIII deficiency. Clin. Genet. 20: 455-457, 1981.
[0015425]6013.Frydman, M.; Bonne-Tamir, B.; Braude, E.; Zamir, R.; Creter, D. : Male fertility in factor XIII deficiency. Fertil. Steril. 45: 729-731, 1986.
[0015426]6014.Frydman, M.; Farrer, L. A.; Bonne-Tamir, B.; Zamir, R.: The locus for factor XIII deficiency linked to the HLA region on chromosome 6p. (Abstract) Am. J. Hum. Genet. 37: A53 only, 1985.
[0015427]6015.Girolami, A.; Burrul, A.; Sticchi, A.: Congenital deficiency of factor XIII with normal subunits S and lack of subunit A: report of a new family. Acta Haemat. 58: 17-26, 1977.
[0015428]6016.Girolami, A.; Cappellato, M. G.; Vicarioto, M. A.: Congenital factor XIII deficiency: type I and type II disease. (Letter) Brit. J. Haemat. 60: 375-377, 1985.
[0015429]6017.Gomez Garcia, E. B.; Poort, S. R.; Stibbe, J.; Sturk, A.; Schaap, M. C. L.; Kappers, M.; Bertina, R. M.: Two novel and one recurrent missense mutation in the factor XIII A gene in two Dutch patients with factor XIII deficiency. Brit. J. Haemat. 112: 513-518, 2001.
[0015430]6018.Graham, J. B.; Edgell, C.-J. S.; Fleming, H.; Namboodiri, K. K.; Keats, B. J. B.; Elston, R. C.: Coagulation factor XIII: a useful polymorphic genetic marker. Hum. Genet. 67: 132-135, 1984.
[0015431]6019.Grundmann, U.; Amann, E.; Zettlmeissl, G.; Kupper, H. A.: Characterization of cDNA coding for human factor XIIIa. Proc. Nat. Acad. Sci. 83: 8024-8028, 1986.
[0015432]6020.Ichinose, A.; Davie, E. W.: Characterization of the gene for the a subunit of human factor XIII (plasma transglutaminase), a blood coagulation factor. Proc. Nat. Acad. Sci. 85: 5829-5833, 1988.
[0015433]6021.Ichinose, A.; Hendrickson, L. E.; Fujikawa, K.; Davie, E. W.: Amino acid sequence of the a subunit of human factor XIII. Biochemistry 25: 6900-6906, 1986.
[0015434]6022.Ichinose, A.; Izumi, T.; Hashiguchi, T.: The normal and abnormal genes of the a and b subunits in coagulation factor XIII. Semin. Thromb. Hemost. 22: 385-391, 1996.
[0015435]6023.Ichinose, A.; Souri, M.; Izumi, T.; Takahashi, N.: Molecular and genetic mechanisms of factor XIII A subunit deficiency. Semin. Thromb. Hemost. 26: 5-10, 2000.
[0015436]6024.Ikkala, E.; Nevanlinna, H. R.: Congenital deficiency of fibrin stabilizing factor. Thromb. Diath. Haemorrh. 7: 567-571, 1962.
[0015437]6025.Israels, E. D.; Paraskevas, F.; Israels, L. G.: Immunological studies of coagulation factor XIII. J. Clin. Invest. 52: 2398-2403, 1973.
[0015438]6026.Kamboh, M. I.; Ferrell, R. E.: Three FXIIIA gene loci? (Letter) Hum. Genet. 84: 102 only, 1989.
[0015439]6027.Kamura, T.; Okamura, T.; Murakawa, M.; Tsuda, H.; Teshima, T.; Shibuya, T.; Harada, M.; Niho, Y.: Deficiency of coagulation factor XIII A subunit caused by the dinucleotide deletion at the 5-prime end of exon III. J. Clin. Invest. 90: 315-319, 1992.
[0015440]6028.Kangsadalampai, S.; Chelvanayagam, G.; Baker, R.; Tiedemann, K.; Kuperan, P.; Board, P. G.: Identification and characterization of two missense mutations causing factor XIIIA deficiency. Brit. J. Haemat. 104: 37-43, 1999.
[0015441]6029.Kera, Y.; Nishimukai, H.; Yamasawa, K.: Genetic polymorphism of the B subunit of human coagulation factor XIII: another classification. Hum. Genet. 59: 360-364, 1981.
[0015442]6030.Kitchens, C. S.; Newcomb, T. F.: Factor XIII. Medicine 58: 413-429, 1979.
[0015443]6031.Kohler, H. P.; Stickland, M. H.; Ossei-Gerning, N.; Carter, A.; Mikkola, H.; Grant, P. J.: Association of a common polymorphism in the factor XIII gene with myocardial infarction. Thromb. Haemost. 79: 8-13, 1998.
[0015444]6032.Kompf, J.; Schunter, F.; Wernet, P.; Ritter, H.: Linkage between the loci for mitochondrial malic enzyme (ME2) and coagulation factor XIIIA subunit (F13A). Hum. Genet. 70: 43-44, 1985.
[0015445]6033.Lorand, L.; Urayama, T.; Atencio, A. C.; Hsia, D. Y.-Y.: Inheritance of deficiency of fibrin-stabilizing factor (factor XIII). Am. J. Hum. Genet. 22: 89-95, 1970.
[0015446]6034.Board, P. G.: Further electrophoretic studies of erythrocyte glutathione peroxidase. Am. J. Hum. Genet. 35: 914-918, 1983.
[0015447]6035.Bock, A.; Forchhammer, K.; Heider, J.; Leinfelder, W.; Sawers, G.; Veprek, B.; Zinoni, F.: Selenocysteine: the 21st amino acid. Molec. Microbiol. 5: 515-520, 1991.
[0015448]6036.Boivin, P.; Galand, C.; Hakim, J.: Anemie hemolytique avec deficit en glutathionperoxydase chez un adulte. Enzym. Biol. Clin. 10: 68-80, 1969.
[0015449]6037.Chada, S.; Le Beau, M. M.; Casey, L.; Newburger, P. E.: Isolation and chromosomal localization of the human glutathione peroxidase gene. Genomics 6: 268-271, 1990.
[0015450]6038.Cohen, H. J.; Chovaniec, M. E.; Mistretta, O.; Baker, S. S.: Selenium repletion and glutathione peroxidase-differential effects on plasma and red cell enzyme activity. Am. J. Clin. Nutr. 41: 735-747, 1985.
[0015451]6039.Feaster, W. W.; Kwok, L. W.; Epstein, C. J.: Dosage effects for superoxide dismutase-1 in nucleated cells aneuploid for chromosome 21. Am. J. Hum. Genet. 29: 563-570, 1977.
[0015452]6040.Forsberg, L.; de Faire, U.; Morgenstern, R.: Low yield of polymorphisms from EST Blast searching: analysis of genes related to oxidative stress and verification of the P197L polymorphism in GPX1. Hum. Mutat. 13: 294-300, 1999.
[0015453]6041.de Haan, J. B.; Bladier, C.; Griffiths, P.; Kelner, M.; O'Shea, R. D.; Cheung, N. S.; Bronson, R. T.; Silvestro, M. J.; Wild, S.; Zheng, S. S.; Beart, P. M.; Hertzog, P. J.; Kola, I.: Mice with a homozygous null mutation for the most abundant glutathione peroxidase, Gpx1, show increased susceptibility to the oxidative stress-inducing agents paraquat and hydrogen peroxide. J. Biol. Chem. 273: 22528-22536, 1998.
[0015454]6042.Golan, R.; Ezzer, J. B.; Szeinberg, A.: Red cell glutathione peroxidase in various Jewish ethnic groups in Israel. Hum. Hered. 30: 136-141, 1980.
[0015455]6043.Johannsmann, R.; Hellkuhl, B.; Grzeschik, K.-H.: Regional assignment of a gene for glutathione peroxidase on human chromosome 3. (Abstract) Cytogenet. Cell Genet. 25: 167 only, 1979.
[0015456]6044.Johannsmann, R.; Hellkuhl, B.; Grzeschik, K.-H.: Regional mapping of human chromosome 3: assignment of a glutathione peroxidase-1 gene to 3p13-3q12. Hum. Genet. 56: 361-363, 1981.
[0015457]6045.Kiss, C.; Li, J.; Szeles, A.; Gizatullin, R. Z.; Kashuba, V. I.; Lushnikova, T.; Protopopov, A. I.; Kelve, M.; Kiss, H.; Kholodnyuk, I. D.; Imreh, S.; Klein, G.; Zabarovsky, E. R.: Assignment of the ARHA and GPX1 genes to human chromosome bands 3p21.3 by in situ hybridization and with somatic cell hybrids. Cytogenet. Cell Genet. 79: 228-230, 1997.
[0015458]6046.Le Beau, M. M.: Personal Communication. Chicago, Ill. 1/23/1989.
[0015459]6047.Le Beau, M. M.; Chada, S.; Casey, L.; Newburger, P. E.: Chromosomal sublocalization of the human glutathione peroxidase gene. (Abstract) Cytogenet. Cell Genet. 51: 1030 only, 1989.
[0015460]6048.McBride, O. W.; Mitchell, A.; Lee, B. J.; Mullenbach, G.; Hatfield, D.: Gene for selenium-dependent glutathione peroxidase maps to human chromosomes 3, 21 and X. BioFactors 1: 285-292, 1988.
[0015461]6049.Meera Khan, P.; Verma, C.; Wijnen, L. M. M.; Jairaj, S.: Red cell glutathione peroxidase (GPX1) variation in Afro-Jamaican, Asiatic Indian, and Dutch populations: is the GPX1*2 allele of 'Thomas' variant an African marker? Hum. Genet. 66: 352-355, 1984.
[0015462]6050.Meera Khan, P.; Verma, C.; Wijnen, L. M. M.; Wijnen, J. T.; Prins, H. K.; Nijenhuis, L. E.: Electrotypes and formal genetics of red cell glutathione peroxidase (GPX1) in the Djuka of Surinam. Am. J. Hum. Genet. 38: 712-723, 1986.
[0015463]6051.Mehdizadeh, S.; Warden, C. H.; Wen, P.-Z.; Xia, Y.-R.; Mehrabian, M.; Lusis, A. J.: The glutathione peroxidase gene, Gpx1, maps to mouse chromosome 9. Mammalian Genome 7: 465-466, 1996.
[0015464]6052.Necheles, T. F.; Boles, T. A.; Allen, D. M.: Erythrocyte glutathione-peroxidase deficiency and hemolytic disease of the newborn infant. J. Pediat. 72: 319-324, 1968.
[0015465]6053.Necheles, T. F.; Maldonado, N. I.; Barquet-Chediak, A.; Allen, D. M.: Homozygous erythrocyte glutathione-peroxidase deficiency: clinical and biochemical studies. Blood 33: 164-169, 1969.
[0015466]6054.Necheles, T. F.; Steinberg, M. H.; Cameron, D.: Erythrocyte glutathione-peroxidase deficiency. Brit. J. Haemat. 19: 605-612, 1970.
[0015467]6055.Nishimura, Y.; Chida, N.; Hayashi, T.; Arakawa, T. S.: Homozygous glutathioneperoxidase deficiency of erythrocytes and leukocytes. Tohoku J. Exp. Med. 108: 207-218, 1972.
[0015468]6056.Paglia, D. E.: Erythroenzymopathies: 1960s in retrospect. Curr. Contents 32: 17 only, 1989.
[0015469]6057.Paglia, D. E.; Valentine, W. N.: Studies on the quantitative and qualitative characterization of erythrocyte glutathione peroxidase. J. Lab. Clin. Med. 70: 158-169, 1967.
[0015470]6058.Perona, G.; Guidi, G. C.; Piga, A.; Cellerino, R.; Milani, G.; Colautti, P.; Moschini, G.; Stievano, B. M.: Neonatal erythrocyte glutathione peroxidase deficiency as a consequence of selenium imbalance during pregnancy. Brit. J. Haemat. 42: 567-574, 1979.
[0015471]6059.Reddy, V. N.; Giblin, F. J.; Lin, L.-R.; Dang, L.; Unakar, N. J.; Musch, D. C.; Boyle, D. L.; Takemoto, L. J.; Ho, Y.-S.; Knoernschild, T.; Juenemann, A.; Lutjen-Drecoll, E.: Glutathione peroxidase-1 deficiency leads to increased nuclear light scattering, membrane damage, and cataract formation in gene-knockout mice. Invest. Ophthal. Vis. Sci. 42: 3247-3255, 2001.
[0015472]6060.Shen, Q.; Townes, P. L.; Padden, C.; Newburger, P. E.: An in-frame trinucleotide repeat in the coding region of the human cellular glutathione peroxidase (GPX1) gene: in vivo polymorphism and in vitro instability. Genomics 23: 292-294, 1994.
[0015473]6061.Sinet, P. M.; Michelson, A. M.; Bazin, A.; Lejeune, J.; Jerome, H.: Increase in glutathione peroxidase activity in erythrocytes from trisomy 21 subjects. Biochem. Biophys. Res. Commun. 67: 910-915, 1975.
[0015474]6062.Steinberg, M. H.; Brauer, M. J.; Necheles, T. F.: Acute hemolytic anemia associated with erythrocyte glutathione-peroxidase deficiency. Arch. Intern. Med. 125: 302-303, 1970.
[0015475]6063.Steinberg, M. H.; Necheles, T. F.: Erythrocyte glutathione peroxidase deficiency: biochemical studies on the mechanisms of drug-induced hemolysis. Am. J. Med. 50: 542-546, 1971.
[0015476]6064.Sukenaga, Y.; Ishida, K.; Takeda, T.; Takagi, K.: cDNA sequence coding for human glutathione peroxidase. Nucleic Acids Res. 15: 7178 only, 1987.
[0015477]6065.Takahashi, K.; Avissar, N.; Whitin, J.; Cohen, H.: Purification and characterization of human plasma glutathione peroxidase: a selenoglycoprotein distinct from the known cellular enzyme. Arch. Biochem. Biophys. 256: 677-686, 1987.
[0015478]6066.Danciger, M.; Farber, D. B.; Peyser, M.; Kozak, C. A.: The gene for the beta-subunit of retinal transducin (Gnb-1) maps to distal mouse chromosome 4, and related sequences map to mouse chromosomes 5 and 8. Genomics 6: 428-435, 1990.
[0015479]6067.Hurowitz, E. H.; Melnyk, J. M.; Chen, Y.-J.; Kouros-Mehr, H.; Simon, M. I.; Shizuya, H.: Genomic characterization of the human heterotrimeric G protein alpha, beta, and gamma subunit genes. DNA Res. 7: 111-120, 2000.
[0015480]6068.Modi, W. S.; O'Brien, S. J.; Levine, M. A.: Chromosomal assignment of 2 GTP binding protein subunit genes: the alpha subunit of adenylyl cyclase (GNAS) and the beta 1 polypeptide (GNB). (Abstract) Cytogenet. Cell Genet. 58: 1860 only, 1991.
[0015481]6069.Gao, B.; Gilman, A. G.; Robishaw, J. D.: A second form of the beta subunit of signaltransducing G proteins. Proc. Nat. Acad. Sci. 84: 6122-6125, 1987.
[0015482]6070.Kere, J.; Taillon-Miller, P.; Lovett, M.; de la Chapelle, A.; Donis-Keller, H.: Construction of human chromosome 7 YAC contigs around the COL1A2 and EPO genes and mapping of the GNB2 gene. (Abstract) Cytogenet. Cell Genet. 58: 1922-1923, 1991.
[0015483]6071.Lovett, M.; Kere, J.; Hinton, L. M.: Direct selection: a method for the isolation of cDNAs encoded by large genomic regions. Proc. Nat. Acad. Sci. 88: 9628-9632, 1991.
[0015484]6072.Parimoo, S.; Patanjali, S. R.; Shukla, H.; Chaplin, D. D.; Weissman, S. M.: cDNA selection: efficient PCR approach for the selection of cDNAs encoded in large chromosomal DNA fragments. Proc. Nat. Acad. Sci. 88: 9623-9627, 1991.
[0015485]6073.Peng, Y.-W.; Robishaw, J. D.; Levine, M. A.; Yau, K.-W.: Retinal rods and cones have distinct G protein beta and gamma subunits. Proc. Nat. Acad. Sci. 89: 10882-10886, 1992.
[0015486]6074.Ma, J. J.; Nishimura, M.; Mine, H.; Kuroki, S.; Nukina, M.; Ohta, M.; Saji, H.; Obayashi, H.; Kawakami, H.; Saida, T.; Uchiyama, T. : Genetic contribution of the tumor necrosis factor region in Guillain-Barre syndrome. Ann. Neurol. 44: 815-818, 1998.
[0015487]6075.Giuili, G.; Roechel, N.; Scholl, U.; Mattei, M.-G.; Guellaen, G. : Colocalization of the genes coding for the alpha-3 and beta-3 subunits of soluble guanylyl cyclase to human chromosome 4 at q31.3-q33. Hum. Genet. 91: 257-260, 1993.
[0015488]6076.Cameron, H. S.; Szczepaniak, D.; Weston, B. W.: Expression of human chromosome 19p alpha-(1,3)-fucosyltransferase genes in normal tissues: alternative splicing, polyadenylation, and isoforms. J. Biol. Chem. 270: 20112-20122, 1995.
[0015489]6077.Koszdin, K. L.; Bowen, B. R.: The cloning and expression of a human alpha-1,3 fucosyltransferase capable of forming the E-selectin ligand. Biochem. Biophys. Res. Commun. 187: 152-157, 1992.
[0015490]6078.Mollicone, R.; Reguigne, I.; Fletcher, A.; Aziz, A.; Rustam, M.; Weston, B. W.; Kelly, R. J.; Lowe, J. B.; Oriol, R.: Molecular basis for plasma alpha(1,3)-fucosyltransferase gene deficiency (FUT6). J. Biol. Chem. 269: 12662-12671, 1994.
[0015491]6079.Pang, H.; Koda, Y.; Soejima, M.; Schlaphoff, T.; Du Toit, E. D.; Kimura, H.: Allelic diversity of the human plasma alpha(1,3)fucosyltransferase gene (FUT6). Ann. Hum. Genet. 63: 277-284, 1999.
[0015492]6080.Schnyder-Candrian, S.; Borsig, L.; Moser, R.; Berger, E. G.: Localization of alpha-1,3-fucosyltransferase VI in Weibel-Palade bodies of human endothelial cells. Proc. Nat. Acad. Sci. 97: 8369-8374, 2000.
[0015493]6081.Allen, S. J.; O'Donnell, A.; Alexander, N. D. E.; Alpers, M. P.; Peto, T. E. A.; Clegg, J. B.; Weatherall, D. J.: Alpha(+)-thalassemia protects children against disease caused by other infections as well as malaria. Proc. Nat. Acad. Sci. 94: 14736-14741, 1997.
[0015494]6082.Keats, B. J. B.; Morton, N. E.; Rao, D. C.: Possible linkages (lod score over 1.5) and a tentative map of the Jk-Km linkage group. Cytogenet. Cell Genet. 22: 304-308, 1978.
[0015495]6083.Keats, B. J. B.; Morton, N. E.; Rao, D. C.: Likely linkage: InV with Jk. Hum. Genet. 39: 157-159, 1977.
[0015496]6084.Cannizzaro, L. A.; Croce, C. M.; Griffin, C. A.; Simeone, A.; Boncinelli, E.; Huebner, K.: Human homeo box-containing genes located at chromosome regions 2q31-2q37 and 12q12-12q13. Am. J. Hum. Genet. 41: 1-15, 1987.
[0015497]6085.Boncinelli, E.; Acampora, D.; Pannese, M.; D'Esposito, M.; Somma, R.; Gaudino, G.; Stornaiuolo, A.; Cafiero, M.; Faiella, A.; Simeone, A.: Organization of human class I homeobox genes. Genome 31: 745-756, 1989.
[0015498]6086.Chariot, A.; Castronovo, V.; Le, P.; Gillet, C.; Sobel, M. E.; Gielen, J.: Cloning and expression of a new HOXC6 transcript encoding a repressing protein. Biochem. J. 319: 91-97, 1996.
[0015499]6087.Semina, E. V.; Reiter, R.; Leysens, N. J.; Alward, W. L. M.; Small, K. W.; Datson, N. A.; Siegel-Bartelt, J.; Bierke-Nelson, D.; Bitoun, P.; Zabel, B. U.; Carey, J. C.; Murray, J. C.: Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. Nature Genet. 14: 392-399, 1996.
[0015500]6088.Zhou, X.-P.; Marsh, D. J.; Hampel, H.; Mulliken, J. B.; Gimm, O.; Eng, C.: Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis. Hum. Molec. Genet. 9: 765-768, 2000.
[0015501]6089.Gibbs, S.; Fijneman, R.; Wiegant, J.; Geurts van Kessel, A.; van de Putte, P.; Backendorf, C.: Molecular characterization and evolution of the SPRR family of keratinocyte differentiation markers encoding small proline-rich proteins. Genomics 16: 630-637, 1993.
[0015502]6090.Bressler, J.; Tsai, T.-F.; Wu, M.-Y.; Tsai, S.-F.; Ramirez, M. A.; Armstrong, D.; Beaudet, A. L.: The SNRPN promoter is not required for genomic imprinting of the Prader-Willi/Angelman domain in mice. Nature Genet. 28: 232-240, 2001.
[0015503]6091.Buiting, K.; Saitoh, S.; Gross, S.; Dittrich, B.; Schwartz, S.; Nicholls, R. D.; Horsthemke, B.: Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. Nature Genet. 9: 395-400, 1995.
[0015504]6092.Dittrich, B.; Buiting, K.; Korn, B.; Rickard, S.; Buxton, J.; Saitoh, S.; Nicholls, R. D.; Poustka, A.; Winterpacht, A.; Zabel, B.; Horsthemke, B.: Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene. Nature Genet. 14: 163-170, 1996.
[0015505]6093.Gallagher, R. C.; Pils, B.; Albalwi, M.; Francke, U.: Evidence for the role of PWCR1/HBII-85 C/D box small nucleolar RNAs in Prader-Willi syndrome. Am. J. Hum. Genet. 71: 669-678, 2002.
[0015506]6094.Glenn, C. C.; Porter, K. A.; Jong, M. T. C.; Nicholls, R. D.; Driscoll, D. J.: Functional imprinting and epigenetic modification of the human SNRPN gene. Hum. Molec. Genet. 2: 2001-2005, 1993.
[0015507]6095.Gray, T. A.; Saitoh, S.; Nicholls, R. D.: An imprinted, mammalian bicistronic transcript encodes two independent proteins. Proc. Nat. Acad. Sci. 96: 5616-5621, 1999.
[0015508]6096.Kuslich, C. D.; Kobori, J. A.; Mohapatra, G.; Gregorio-King, C.; Donlon, T. A.: Prader-Willi syndrome is caused by disruption of the SNRPN gene. Am. J. Hum. Genet. 64: 70-76, 1999.
[0015509]6097.Leff, S. E.; Brannan, C. I.; Reed, M. L.; Ozcelik, T.; Francke, U.; Copeland, N. G.; Jenkins, N. A.: Maternal imprinting of the mouse Snrpn gene and conserved linkage homology with the human Prader-Willi syndrome region. Nature Genet. 2: 259-264, 1992.
[0015510]6098.Li, S.; Klein, E. S.; Russo, A. F.; Simmons, D. M.; Rosenfeld, M. G.: Isolation of cDNA clones encoding small nuclear ribonucleoparticle-associated proteins with different tissue specificities. Proc. Nat. Acad. Sci. 86: 9778-9782, 1989.
[0015511]6099.Lyko, F.; Buiting, K.; Horsthemke, B.; Paro, R.: Identification of a silencing element in the human 15q11-q13 imprinting center by using transgenic Drosophila. Proc. Nat. Acad. Sci. 95: 1698-1702, 1998.
[0015512]6100.McAllister, G.; Amara, S. G.; Lerner, M. R.: Tissue-specific expression and cDNA cloning of small nuclear ribonucleoprotein-associated polypeptide N. Proc. Nat. Acad. Sci. 85: 5296-5300, 1988.
[0015513]6101.Mutirangura, A.; Jayakumar, A.; Sutcliffe, J. S.; Nakao, M.; McKinney, M. J.; Buiting, K.; Horsthemke, B.; Beaudet, A. L.; Chinault, A. C.; Ledbetter, D. H.: A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene. Genomics 18: 546-552, 1993.
[0015514]6102.Ozcelik, T.; Leff, S.; Robinson, W.; Donlon, T.; Lalande, M.; Sanjines, E.; Schinzel, A.; Francke, U.: Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region. Nature Genet. 2: 265-269, 1992.
[0015515]6103.Reed, M. L.; Leff, S. E.: Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome. Nature Genet. 6: 163-167, 1994.
[0015516]6104.Saitoh, S.; Wada, T.: Parent-of-origin specific histone acetylation and reactivation of a key imprinted gene locus in Prader-Willi syndrome. Am. J. Hum. Genet. 66: 1958-1962, 2000.
[0015517]6105.Tiller, G. E.; Polumbo, P. A.; Weis, M. A.; Bogaert, R.; Lachman, R. S.; Cohn, D. H.; Rimoin, D. L.; Eyre, D. R.: Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type. Nature Genet. 11: 87-89, 1995.
[0015518]6106.Tiller, G. E.; Weis, M. A.; Lachman, R. S.; Cohn, D. H.; Rimoin, D. L.; Eyre, D. R.: A dominant mutation in the type II collagen gene (COL2A1) produces spondyloepimetaphyseal dysplasia (SEMD), Strudwick type. (Abstract) Am. J. Hum. Genet. 53 (suppl.): A209 only, 1993.
[0015519]6107.Xu, H.; Wu, X.-R.; Wewer, U. M.; Engvall, E.: Murine muscular dystrophy caused by a mutation in the laminin alpha-2 (Lama2) gene. Nature Genet. 8: 297-302, 1994.
[0015520]6108.Zhang, X.; Vuolteenaho, R.; Tryggvason, K.: Structure of the human laminin alpha-2-chain gene (LAMA2), which is affected in congenital muscular dystrophy. J. Biol. Chem. 271: 27664-27669, 1996.
[0015521]6109.Kantaputra, P. N.; Gorlin, R. J.; Langer, L. O., Jr.: Dominant mesomelic dysplasia, ankle, carpal, and tarsal synostosis type: a new autosomal dominant bone disorder. Am. J. Med. Genet. 44: 730-737, 1992.
[0015522]6110.Baser, M. E.; De Rienzo, A.; Altomare, D.; Balsara, B. R.; Hedrick, N. M.; Gutmann, D. H.; Pitts, L. H.; Jackler, R. K.; Testa, J. R. : Neurofibromatosis 2 and malignant mesothelioma. Neurology 59: 290-291, 2002.
[0015523]6111.Backman, S. A.; Stambolic, V.; Suzuki, A.; Haight, J.; Elia, A.; Pretorius, J.; Tsao, M.-S.; Shannon, P.; Bolon, B.; Ivy, G. O.; Mak, T. W.: Deletion of Pten in mouse brain causes seizures, ataxia and defects in soma size resembling Lhermitte-Duclos disease. Nature Genet. 29: 396-403, 2001.
[0015524]6112.Fackenthal, J. D.; Marsh, D. J.; Richardson, A.-L.; Cummings, S. A.; Eng, C.; Robinson, B. G.; Olopade, O. I.: Male breast cancer in Cowden syndrome patients with germline PTEN mutations. J. Med. Genet. 38: 159-164, 2001.
[0015525]6113.Kwon, C.-H.; Zhu, X.; Zhang, J.; Knoop, L. L.; Tharp, R.; Smeyne, R. J.; Eberhart, C. G.; Burger, P. C.; Baker, S. J.: Pten regulates neuronal soma size: a mouse model of Lhermitte-Duclos disease. Nature Genet. 29: 404-411, 2001.
[0015526]6114.Liaw, D.; Marsh, D. J.; Li, J.; Dahia, P. L. M.; Wang, S. I.; Zheng, Z.; Bose, S.; Call, K. M.; Tsou, H. C.; Peacocke, M.; Eng, C.; Parsons, R.: Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nature Genet. 16: 64-67, 1997.
[0015527]6115.Marsh, D. J.; Dahia, P. L. M.; Caron, S.; Kum, J. B.; Frayling, I. M.; Tomlinson, I. P. M.; Hughes, K. S.; Eeles, R. A.; Hodgson, S. V.; Murday, V. A.; Houlston, R.; Eng, C.: Germline PTEN mutations in Cowden syndrome-like families. J. Med. Genet. 35: 881-885, 1998.
[0015528]6116.Labeit, S.; Kolmerer, B.: The complete primary structure of human nebulin and its correlation to muscle structure. J. Molec. Biol. 248: 308-315, 1995.
[0015529]6117.Limongi, M. Z.; Pelliccia, F.; Rocchi, A.: Assignment of the human nebulin gene (NEB) to chromosome band 2q24.2 and the alpha-1 (III) collagen gene (COL3A1) to chromosome band 2q32.2 by in situ hybridization: the FRA2G common fragile site lies between the two genes in the 2q31 band. Cytogenet. Cell Genet. 77: 259-260, 1997.
[0015530]6118.Schurr, E.; Skamene, E.; Gros, P.: Mapping of the gene coding for the muscle protein nebulin (Neb) to the proximal region of mouse chromosome 2. Cytogenet. Cell Genet. 57: 214-216, 1991.
[0015531]6119.Stedman, H.; Browning, K.; Oliver, N.; Oronzi-Scott, M.; Fischbeck, K.; Sarkar, S.; Sylvester, J.; Schmickel, R.; Wang, K.: Nebulin cDNAs detect a 25-kilobase transcript in skeletal muscle and localize to human chromosome 2. Genomics 2: 1-7, 1988.
[0015532]6120.Wang, K.; Knipfer, M.; Huang, Q.-Q.; van Heerden, A.; Hsu, L. C.-L.; Gutierrez, G.; Quian, X.-L.; Stedman, H.: Human skeletal muscle nebulin sequence encodes a blueprint for thin filament architecture: sequence motifs and affinity profiles of tandem repeats and terminal SH3. J. Biol. Chem. 271: 4304-4314, 1996.
[0015533]6121.Pelin, K.; Hilpela, P.; Donner, K.; Sewry, C.; Akkari, P. A.; Wilton, S. D.; Wattanasirichaigoon, D.; Bang, M.-L.; Centner, T.; Hanefeld, F.; Odent, S.; Fardeau, M.; Urtizberea, J. A.; Muntoni, F.; Dubowitz, V.; Beggs, A. H.; Laing, N. G.; Labeit, S.; de la Chapelle, A.; Wallgren-Pettersson, C.: Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proc. Nat. Acad. Sci. 96: 2305-2310, 1999.
[0015534]6122.Pelin, K.; Ridanpaa, M.; Donner, K.; Wilton, S.; Krishnarajah, J.; Laing, N.; Kolmerer, B.; Millevoi, S.; Labeit, S.; de la Chapelle, A.; Wallgren-Pettersson, C.: Refined localisation of the genes for nebulin and titin on chromosome 2q allows the assignment of nebulin as a candidate gene for autosomal recessive nemaline myopathy. Europ. J. Hum. Genet. 5: 229-234, 1997.
[0015535]6123.Zeviani, M.; Darras, B. T.; Rizzuto, R.; Salviati, G.; Betto, R.; Bonilla, E.; Miranda, A. F.; Du, J.; Samitt, C.; Dickson, G.; Walsh, F. S.; DiMauro, S.; Francke, U.; Schon, E. A.: Cloning and expression of human nebulin cDNAs and assignment of the gene to chromosome 2q31-q32. Genomics 2: 249-256, 1988.
[0015536]6124.Laing, N. G.; Wilton, S. D.; Akkari, P. A.; Dorosz, S.; Boundy, K.; Kneebone, C.; Blumbergs, P.; White, S.; Watkins, H.; Love, D. R.; Haan, E.: A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. Nature Genet. 9: 75-79, 1995.
[0015537]6125.Shirakawa, H.; Yoshida, M.: Structure of a gene coding for human HMG2 protein. J. Biol. Chem. 267: 6641-6645, 1992.
[0015538]6126.Wanschura, S.; Schoenmakers, E. F. P. M.; Huysmans, C.; Bartnitzke, S.; Van de Ven, W. J. M.; Bullerdiek, J.: Mapping of the human HMG2 gene to 4q31. Genomics 31: 264-265, 1996.
[0015539]6127.Bustin, M.: Regulation of DNA-dependent activities by the functional motifs of the high-mobility-group chromosomal proteins. Molec. Cell. Biol. 19: 5237-5246, 1999.
[0015540]6128.Landsman, D.; Bustin, M.: Chromosomal proteins HMG-14 and HMG-17: distinct multigene families coding for similar types of transcripts. J. Biol. Chem. 261: 16087-16091, 1986.
[0015541]6129.Landsman, D.; Soares, N.; Gonzalez, F. J.; Bustin, M.: Chromosomal protein HMG-17: complete human cDNA sequence and evidence for a multigene family. J. Biol. Chem. 261: 7479-7484, 1986.
[0015542]6130.Mitchell, A.; McBride, W.; Landsman, D.; Bustin, M.: Chromosomal mapping of HMG-17 gene to human chromosome 1p. (Abstract) Am. J. Hum. Genet. 43: A152 only, 1988.
[0015543]6131.Mitchell, A. L.; Bale, A. E.; Bustin, M.; Landsman, D.; Popescu, N.; McBride, O. W.: Localization of HMG17 gene to chromosome 1p35-36.1. (Abstract) Cytogenet. Cell Genet. 51: 1045 only, 1989.
[0015544]6132.Popescu, N.; Landsman, D.; Bustin, M.: Mapping the human gene coding for chromosomal protein HMG-17. Hum. Genet. 85: 376-378, 1990.
[0015545]6133.Porkka, K.; Laakkonen, P.; Hoffman, J. A.; Bernasconi, M.; Ruoslahti, E.: A fragment of the HMGN2 protein homes to the nuclei of tumor cells and tumor endothelial cells in vivo. Proc. Nat. Acad. Sci. 99: 7444-7449, 2002.
[0015546]6134.Srikantha, J.; Landsman, D.; Bustin, M.: Retropseudogenes for human chromosomal protein HMG-17. J. Molec. Biol. 197: 405-413, 1987.
[0015547]6135.Murakami, K.; Blei, F.; Tilton, W.; Seaman, C.; Piomelli, S.: An isozyme of hexokinase specific for the human red blood cell (HK-R). Blood 75: 770-775, 1990.
[0015548]6136.Murakami, K.; Piomelli, S.: Identification of the cDNA for human red blood cellspecific hexokinase isozyme. Blood 89: 762-766, 1997.
[0015549]6137.Deal, C.; Ma, J.; Wilkin, F.; Paquette, J.; Rozen, F.; Ge, B.; Hudson, T.; Stampfer, M.; Pollak, M.: Novel promoter polymorphism in insulin-like growth factor-binding protein-3: correlation with serum levels and interaction with known regulators. J. Clin. Endocr. Metab. 86: 1274-1280, 2001.
[0015550]6138.Ehrenborg, E.; Larsson, C.; Stern, I.; Janson, M.; Powell, D. R.; Luthman, H.: Contiguous localization of the genes encoding human insulin-like growth factor-binding proteins 1 (IGBP1) and 3 (IGBP3) on chromosome 7. Genomics 12: 497-502, 1992.
[0015551]6139.Ferry, R. J., Jr.; Cerri, R. W.; Cohen, P.: Insulin-like growth factor binding proteins: new proteins, new functions. Horm. Res. 51: 53-67, 1999.
[0015552]6140.Fraser, H. M.; Lunn, S. F.; Kim, H.; Duncan, W. C.; Rodger, F. E.; Illingworth, P. J.; Erickson, G. F.: Changes in insulin-like growth factor-binding protein-3 messenger ribonucleic acid in endothelial cells of the human corpus luteum: a possible role in luteal development and rescue. J. Clin. Endocr. Metab. 85: 1672-1677, 2000.
[0015553]6141.Kiefer, M. C.; Ioh, R. S.; Bauer, D. M.; Zapf, J.: Molecular cloning of a new human insulin-like growth factor binding protein. Biochem. Biophys. Res. Commun. 176: 219-225, 1991.
[0015554]6142.Weinzimer, S. A.; Gibson, T. B.; Collett-Solberg, P. F.; Khare, A.; Liu, B.; Cohen, P.: Transferrin is an insulin-like growth factor-binding protein-3 binding protein. J. Clin. Endocr. Metab. 86: 1806-1813, 2001.
[0015555]6143.Wood, W. I.; Cachianes, G.; Henzel, W. J.; Winslow, G. A.; Spencer, S. A.; Hellmiss, R.; Martin, J. L.; Baxter, R. C.: Cloning and expression of the GH dependent IGF binding protein. Molec. Endocr. 2: 1176-1185, 1988.
[0015556]6144.Bajalica, S.; Allander, S. V.; Ehrenborg, E.; Brondum-Nielsen, K.; Luthman, H.; Larsson, C.: Localization of the human insulin-like growth-factor-binding protein 4 gene to chromosomal region 17q12-21.1. Hum. Genet. 89: 234-236, 1992.
[0015557]6145.Kiefer, M. C.; Schmid, C.; Waldvogel, M.; Schlapfer, I.; Futo, E.; Masiarz, F. R.; Green, K.; Barr, P. J.; Zapf, J.: Characterization of recombinant human insulin-like growth factor binding proteins 4, 5, and 6 produced in yeast. J. Biol. Chem. 267: 12692-12699, 1992.
[0015558]6146.Shimasaki, S.; Uchiyama, F.; Shimonaka, M.; Ling, N.: Molecular cloning of the cDNAs encoding a novel insulin-like growth factor-binding protein from rat and human. Molec. Endocr. 4: 1451-1458, 1990.
[0015559]6147.Tonin, P.; Ehrenborg, E.; Lenoir, G.; Feunteun, J.; Lynch, H.; Morgan, K.; Zazzi, H.; Vivier, A.; Pollak, M.; Huynh, H.; Luthman, H.; Larsson, C.; Narod, S.: The human insulin-like growth factor-binding protein 4 gene maps to chromosome region 17q12-q21.1 and is close to the gene for hereditary breast-ovarian cancer. Genomics 18: 414-417, 1993.
[0015560]6148.Zazzi, H.; Nikoshkov, A.; Hall, K.; Luthman, H.: Structure and transcription regulation of the human insulin-like growth factor binding protein 4 gene (IGFBP4). Genomics 49: 401-410, 1998.
[0015561]6149.Kou, K.; James, P. L.; Clemmons, D. R.; Copeland, N. G.; Gilbert, D. J.; Jenkins, N. A.; Rotwein, P.: Identification of two clusters of mouse insulin-like growth factor binding protein genes on chromosomes 1 and 11. Genomics 21: 653-655, 1994.
[0015562]6150.Kato, M.; Ishizaki, A.; Hellman, U.; Wernstedt, C.; Kyogoku, M.; Miyazono, K.; Heldin, C.-H.; Funa, K.: A human keratinocyte cell line produces two autocrine growth inhibitors, transforming growth factor-beta and insulin-like growth factor binding protein-6, in a calcium- and cell density-dependent manner. J. Biol. Chem. 270: 12373-12379, 1995.
[0015563]6151.Shimasaki, S.; Gao, L.; Shimonaka, M.; Ling, N.: Isolation and molecular cloning of insulin-like growth factor-binding protein-6. Molec. Endocr. 5: 938-948, 1991.
[0015564]6152.Brink, P. A.; Steyn, L. T.; Coetzee, G. A.; van der Westhuyzen, D. R.: Familial hypercholesterolemia in South African Afrikaners: PvuII and StuI DNA polymorphisms in the LDLreceptor gene consistent with a predominating founder gene effect. Hum. Genet. 77: 32-35, 1987.
[0015565]6153.Brown, M. S.; Goldstein, J. L.: Analysis of a mutant strain of human fibroblasts with a defect in the internalization of receptor-bound low density lipoproteins. Cell 9: 663-674, 1976.
[0015566]6154.Brown, M. S.; Goldstein, J. L.: Familial hypercholesterolemia: defective binding of lipoproteins to cultured fibroblasts associated with impaired regulation of 3-hydroxy-3-methylglutaryl coenzyme at reductase activity. Proc. Nat. Acad. Sci. 71: 788-792, 1974.
[0015567]6155.Davis, C. G.; Lehrman, M. A.; Russell, D. W.; Anderson, R. G. W.; Brown, M. S.; Goldstein, J. L.: The J.D. mutation in familial hypercholesterolemia: amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors. Cell 45: 15-24, 1986.
[0015568]6156.De Braekeleer, M.: Hereditary disorders in Saguenay-Lac-St-Jean (Quebec, Canada). Hum. Hered. 41: 141-146, 1991.
[0015569]6157.Defesche, J. C.; Kastelein, J. J. P.: Molecular epidemiology of familial hypercholesterolaemia. (Letter) Lancet 352: 1643-1644, 1998.
[0015570]6158.Durst, R.; Colombo, R.; Shpitzen, S.; Ben Avi, L.; Friedlander, Y.; Wexler, R.; Raal, F. J.; Marais, D. A.; Defesche, J. C.; Mandelshtam, M. Y.; Kotze, M. J.; Leitersdorf, E.; Meiner, V.: Recent origin and spread of a common Lithuanian mutation, G197del LDLR, causing familial hypercholesterolemia: positive selection is not always necessary to account for disease incidence among Ashkenazi Jews. Am. J. Hum. Genet. 68: 1172-1188, 2001.
[0015571]6159.Ekstrom, U.; Abrahamson, M.; Floren, C.-H.; Tollig, H.; Wettrell, G.; Nilsson, G.; Sun, X.-M.; Soutar, A. K.; Nilsson-Ehle, P.: An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F). Clin. Genet. 55: 332-339, 1999.
[0015572]6160.Elston, R. C.; Namboodiri, K. K.; Go, R. C. P.; Siervogel, R. M.; Glueck, C. J.: Probable linkage between essential familial hypercholesterolemia and third complement component (C3). Cytogenet. Cell Genet. 16: 294-297, 1976.
[0015573]6161.Feussner, G.; Dobmeyer, J.; Nissen, H.; Hansen, T. S.: Unusual Xanthomas in a young patient with heterozygous familial hypercholesterolemia and type III hyperlipoproteinemia. Am. J. Med. Genet. 65: 149-154, 1996.
[0015574]6162.Francke, U.; Brown, M. S.; Goldstein, J. L.: Assignment of the human gene for the low density lipoprotein receptor to chromosome 19: synteny of a receptor, a ligand, and a genetic disease. Proc. Nat. Acad. Sci. 81: 2826-2830, 1984.
[0015575]6163.Frank, S. L.; Taylor, B. A.; Lusis, A. J.: Linkage of the mouse LDL receptor gene on chromosome 9. Genomics 5: 646-648, 1989.
[0015576]6164.Copeland, N. G.; Silan, C. M.; Kingsley, D. M.; Jenkins, N. A.; Cannizzaro, L. A.; Croce, C. M.; Huebner, K.; Sims, J. E.: Chromosomal location of murine and human IL-1 receptor genes. Genomics 9: 44-50, 1991.
[0015577]6165.Dale, M.; Nicklin, M. J.: Interleukin-1 receptor cluster: gene organization of IL1R2, IL1R1, IL1RL2 (IL-1Rrp2), IL1RL1 (T1/ST2), and IL18R1 (IL-1Rrp) on human chromosome 2q. Genomics 57: 177-179, 1999.
[0015578]6166.Dower, S. K.; Kronheim, S. R.; Hopp, T. P.; Cantrell, M.; Deeley, M.; Gillis, S.; Henney, C. S.; Urdal, D. L.: The cell surface receptors for interleukin-1(alpha) and interleukin-1(beta) are identical. Nature 324: 266-268, 1986.
[0015579]6167.Sims, J. E.; Acres, R. B.; Grubin, C. E.; McMahan, C. J.; Wignall, J. M.; March, C. J.; Dower, S. K.: Cloning the interleukin 1 receptor from human T cells. Proc. Nat. Acad. Sci. 86: 8946-8950, 1989.
[0015580]6168.Habets, G. G. M.; van der Kammen, R. A.; Willemsen, V.; Balemans, M.; Wiegant, J.; Collard, J. G.: Sublocalization of an invasion-inducing locus and other genes on human chromosome 7. Cytogenet. Cell Genet. 60: 200-205, 1992.
[0015581]6169.Hill, A. V. S.: The immunogenetics of resistance to malaria. Proc. Assoc. Am. Phys. 111: 272-277, 1999.
[0015582]6170.Katz, F. E.; Parkar, M.; Stanley, K.; Murray, L. J.; Clark, E. A.; Greaves, M. F.: Chromosome mapping of cell membrane antigens expressed on activated B cells. Europ. J. Immun. 15: 103-106, 1985.
[0015583]6171.Gedde-Dahl, T., Jr.; Dupuy, B. M.; Jonassen, R.; Winberg, J.-O.; Anton-Lamprecht, I.; Olaisen, B.: Junctional epidermolysis bullosa inversa (locus EBR2A) assigned to 1q31 by linkage and association of LAMC1. Hum. Molec. Genet. 3: 1387-1391, 1994.
[0015584]6172.Kallunki, T.; Ikonen, J.; Chow, L. T.; Kallunki, P.; Tryggvason, K.: Structure of the human laminin B2 chain gene reveals extensive divergence from the laminin B1 chain gene. J. Biol. Chem. 266: 221-228, 1991.
[0015585]6173.Kallunki, T.; Pikkarainen, T.; Tryggvason, K.; Savolainen, E.-R. : A Pst I polymorphism in the human laminin B2 chain gene on 1q25-q31. Nucleic Acids Res. 17: 4423 only, 1989.
[0015586]6174.Mattei, M.-G.; Weil, D.; Passage, E.; Van Cong, N.; Pribula-Conway, D.; Timpl, R.; Chu, M.-L.: Human gene for laminin B2 chain (LAMB2) maps to the long arm of chromosome 1. (Abstract) Cytogenet. Cell Genet. 46: 659 only, 1987.
[0015587]6175.Mattei, M.-G.; Weil, D.; Pribula-Conway, D.; Bernard, M. P.; Passage, E.; Van Cong, N.; Timpl, R.; Chu, M.-L.: cDNA cloning, expression and mapping of human laminin B2 gene to chromosome 1q31. Hum. Genet. 79: 235-241, 1988.
[0015588]6176.Miner, J. H.; Patton, B. L.; Lentz, S. I.; Gilbert, D. J.; Jenkins, N. A.; Copeland, N. G.; Sanes, J. R.: The laminin alpha chains: expression, developmental transitions, and chromosomal locations of alpha1-5, identification of heterodimeric laminins 8-11, and cloning of a novel alpha3 isoform. J. Cell Biol. 137: 685-701, 1997.
[0015589]6177.Braun, A.; Kofler, A.; Morawietz, S.; Cleve, H.: Sequence and organization of the human vitamin D-binding protein gene. Biochim. Biophys. Acta 1216: 385-394, 1993.
[0015590]6178.Chautard-Freire-Maia, E. A.: Concerning the linkage relationships of the Gc and MNSs loci (Hum. Genet. 43: 215-220, 1978): disentangling part of the data overlap. (Letter) Hum. Genet. 49: 115-116, 1979.
[0015591]6179.Cleve, H.; Kirk, R. L.; Gajdusek, D. C.; Guiart, J.: On the distribution of the Gc variant Gc Aborigine in Melanesian populations: determination of Gc-types in sera from Tongariki Island, New Hebrides. Acta Genet. Statist. Med. 17: 511-517, 1967.
[0015592]6180.Cleve, H.; Kirk, R. L.; Parker, W. C.; Bearn, A. G.; Schacht, L. E.; Kleinman, H.; Horsfall, W. R.: Two genetic variants of the group-specific component of human serum: Gc Chippewa and Gc Aborigine. Am. J. Hum. Genet. 15: 368-379, 1963.
[0015593]6181.Cleve, H.; Patutschnick, W.: The vitamin D binding of the common rare variants of the group-specific component (Gc): an autoradiographic study. Hum. Genet. 38: 289-296, 1977.
[0015594]6182.Constans, J.; Cleve, H.; Dykes, D.; Fischer, M.; Kirk, R. L.; Papiha, S. S.; Scheffran, W.; Scherz, R.; Thymann, M.; Weber, W.: The polymorphism of the vitamin D-binding protein (Gc); isoelectric focusing in 3 M urea as additional method for identification of genetic variants. Hum. Genet. 65: 176-180, 1983.
[0015595]6183.Constans, J.; Viau, M.: Group-specific component: evidence for two subtypes of the Gc(1) gene. Science 198: 1070-1071, 1977.
[0015596]6184.Cooke, N. E.; David, E. V.: Serum vitamin D-binding protein is a third member of the albumin and alpha fetoprotein gene family. J. Clin. Invest. 76: 2420-2424, 1985.
[0015597]6185.Cooke, N. E.; Willard, H. F.; David, E. V.; George, D. L.: Direct regional assignment of the gene for vitamin D binding protein (Gc-globulin) to human chromosome 4q11-q13 and identification of an associated DNA polymorphism. Hum. Genet. 73: 225-229, 1986.
[0015598]6186.Daiger, S. P.; Brewton, G. W.; Rios, A. A.; Mansell, P. W. A.; Reuben, J. M.: Genetic susceptibility to AIDS: absence of an association with group-specific component (Gc). (Letter) New Eng. J. Med. 317: 631-632, 1987.
[0015599]6187.Daiger, S. P.; Cavalli-Sforza, L. L.: Detection of genetic variation with radioactive ligands. II. Genetic variants of vitamin D-labeled group-specific component (Gc) proteins. Am. J. Hum. Genet. 29: 593-604, 1977.
[0015600]6188.Daiger, S. P.; Miller, M.; Chakraborty, R.: Heritability of quantitative variation at the group-specific component (Gc) locus. Am. J. Hum. Genet. 36: 663-676, 1984.
[0015601]6189.Daiger, S. P.; Schanfield, M. S.; Cavalli-Sforza, L. L.: Group-specific component (Gc) proteins bind vitamin D and 25-hydroxyvitamin D. Proc. Nat. Acad. Sci. 72: 2076-2080, 1975.
[0015602]6190.Dykes, D.; Copouls, B.; Polesky, H.: Description of six new Gc variants. Hum. Genet. 63: 35-37, 1983.
[0015603]6191.Dykes, D. D.; Polesky, H. F.: Gc1C12: a new Gc variant. Hum. Hered. 32: 136-138, 1982.
[0015604]6192.Eales, L.-J.; Nye, K. E.; Parkin, J. M.; Weber, J. N.; Forster, S. M.; Harris, J. R. W.; Pinching, A. J.: Association of different allelic forms of group specific component with susceptibility to and clinical manifestation of human immunodeficiency virus infection. Lancet I: 999-1002, 1987.
[0015605]6193.Falk, C. T.; Martin, M. D.; Walker, M. E.; Chen, T.; Rubinstein, P.; Allen, F. H., Jr.: Family data suggesting a linkage between MN and Gc. (Abstract) Cytogenet. Cell Genet. 25: 152 only, 1979.
[0015606]6194.German, J. L.; Walker, M. E.; Stiefel, F. H.; Allen, F. H., Jr. : Autoradiographic studies of human chromosomes. II. Data concerning the position of the MN locus. Vox Sang. 16: 130-145, 1969.
[0015607]6195.Gilles, K.; Louie, L.; Newman, B.; Crandall, J.; King, M.-C.: Genetic susceptibility to AIDS: absence of an association with group-specific component (Gc). (Letter) New Eng. J. Med. 317: 630-631, 1987.
[0015608]6196.Henningsen, K.; Jacobsen, P.; Mikkelsen, M.: B-F chromosome translocation associated with father-child incompatibility within the Gc-system. Hum. Hered. 19: 283-287, 1969.
[0015609]6197.Hirschfeld, J.: The Gc-system: immuno-electrophoretic studies of normal human sera with special reference to a new genetically determined serum system (GC). Prog. Allergy 6: 155-186, 1962.
[0015610]6198.Hirschfeld, J.: Immune-electrophoretic demonstration of qualitative differences in human sera and their relation to the haptoglobins. Acta Path. Microbiol. Scand. 47: 160-168, 1959.
[0015611]6199.Johnson, A. M.; Cleve, H.; Alper, C. A.: Variants of the group-specified component system as demonstrated by immunofixation electrophoresis: report of a new variant, Gc Boston (Gc B). Am. J. Hum. Genet. 27: 728-736, 1975.
[0015612]6200.Karlsson, S.; Arnason, A.; Thordarson, G.; Olaisen, B.: Frequency of Gc alleles and a variant Gc allele in Iceland. Hum. Hered. 30: 119-121, 1980.
[0015613]6201.Kofler, A.; Braun, A.; Jenkins, T.; Serjeantson, S. W.; Cleve, H.: Characterization of mutants of the vitamin-D-binding protein/group specific component: GC Aborigine (1A1) from Australian Aborigines and South African blacks, and 2A9 from South Germany. Vox Sang. 68: 50-54, 1995.
[0015614]6202.Magenis, R. E.; Eoff, J. S.; Toth-Fejel, S.; Lovrien, E.: Probable linkage of GC to a chromosome 4 inversion and localization to 4q12. (Abstract) Cytogenet. Cell Genet. 40: 684 only, 1985.
[0015615]6203.Mars, M.; Farrant, S.; Roberts, G. J.: Dentinogenesis imperfecta, report of a 5-generation family. Brit. Dent. J. 140: 206-209, 1976.
[0015616]6204.McCombs, J. L.; Yang, F.; Bowman, B. H.; McGill, J. R.; Moore, C. M.: Chromosomal localization of group-specific component by in situ hybridization. Cytogenet. Cell Genet. 42: 62-64, 1986.
[0015617]6205.Mikkelsen, M.; Jacobsen, P.; Henningsen, K.: Possible localization of Gc-system on chromosome 4. Loss of long arm 4 material associated with father-child incompatibility within the Gcsystem. Hum. Hered. 27: 105-107, 1977.
[0015618]6206.Mourant, A. E.; Tills, D.; Domaniewska-Sobczak, K.: Sunshine and the geographical distribution of the alleles of the Gc system of plasma proteins. Hum. Genet. 33: 307-314, 1976.
[0015619]6207.Parker, W. C.; Cleve, H.; Bearn, A. G.: Determination of phenotypes in the human group-specific component (Gc) system by starch gel electrophoresis. Am. J. Hum. Genet. 15: 353-367, 1963.
[0015620]6208.Petrini, M.; Emerson, D. L.; Galbraith, R. M.: Linkage between surface immunoglobulin and cytoskeleton of B lymphocytes may involve Gc protein. Nature 306: 73-74, 1983.
[0015621]6209.Cleaver, J. E.; Thompson, L. H.; Richardson, A. S.; States, J. C.: A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. Hum. Mutat. 14: 9-22, 1999.
[0015622]6210.Coetzer, T.; Zail, S. S.: Tryptic digestion of spectrin in variants of hereditary elliptocytosis. J. Clin. Invest. 67: 1241-1248, 1981.
[0015623]6211.Evans, J. P. M.; Baines, A. J.; Hann, I. M.; Al-Hakim, I.; Knowles, S. M.; Hoffbrand, A. V.: Defective spectrin dimer-dimer association in a family with transfusion dependent homozygous hereditary elliptocytosis. Brit. J. Haemat. 54: 163-172, 1983.
[0015624]6212.Keats, B. J. B.: Another elliptocytosis locus on chromosome 1? Hum. Genet. 50: 227-230, 1979.
[0015625]6213.Rao, D. C.; Keats, B. J.; Lalouel, J. M.; Morton, N. E.; Yee, S.: A maximum likelihood map of chromosome 1. Am. J. Hum. Genet. 31: 680-696, 1979.
[0015626]6214.Kaneda, Y.; Yoshida, M. C.; Kohno, K.; Uchida, T.; Okada, Y.: Chromosomal assignment of the gene for human elongation factor-2. Proc. Nat. Acad. Sci. 81: 3158-3162, 1984.
[0015627]6215.Rapp, G.; Klaudiny, J.; Hagendorff, G.; Luck, M. R.; Scheit, K. H.: Complete sequence of the coding region of human elongation factor 2 (EF-2) by enzymatic amplification of cDNA from human ovarian granulosa cells. Biol. Chem. Hoppe-Seyler 370: 1071-1075, 1989.
[0015628]6216.Kenmochi, N.; Kawaguchi, T.; Rozen, S.; Davis, E.; Goodman, N.; Hudson, T. J.; Tanaka, T.; Page, D. C.: A map of 75 human ribosomal protein genes. Genome Res. 8: 509-523, 1998.
[0015629]6217.Alders, M.; Ryan, A.; Hodges, M.; Bliek, J.; Feinberg, A. P.; Privitera, O.; Westerveld, A.; Little, P. F. R.; Mannens, M.: Disruption of a novel imprinted zinc-finger gene, ZNF215, in Beckwith-Wiedemann syndrome. Am. J. Hum. Genet. 66: 1473-1484, 2000.
[0015630]6218.Algar, E. M.; Deeble, G. J.; Smith, P. J.: CDKN1C expression in Beckwith-Wiedemann syndrome patients with allele imbalance. J. Med. Genet. 36: 524-531, 1999.
[0015631]6219.Justice, M. J.; Siracusa, L. D.; Gilbert, D. J.; Heisterkamp, N.; Groffen, J.; Chada, K.; Silan, C. M.; Copeland, N. G.; Jenkins, N. A.: A genetic linkage map of mouse chromosome 10: localization of eighteen molecular markers using a single interspecific backcross. Genetics 125: 855-866, 1990.
[0015632]6220.King, M. C.: Personal Communication. Berkeley, Calif. 5/1996.
[0015633]6221.Korach, K. S.: Insights from the study of animals lacking functional estrogen receptor. Science 266: 1524-1527, 1994.
[0015634]6222.Kos, M.; Reid, G.; Denger, S.; Gannon, F.: Minireview: genomic organization of the human ER-alpha gene promoter region. Molec. Endocr. 15: 2057-2063, 2001.
[0015635]6223.Kumar, R.; Wang, R.-A.; Mazumdar, A.; Talukder, A. H.; Mandal, M.; Yang, Z.; Bagheri-Yarmand, R.; Sahin, A.; Hortobagyi, G.; Adam, L.; Barnes, C. J.; Vadlamudi, R. K.: A naturally occurring MTA1 variant sequesters oestrogen receptor-alpha in the cytoplasm. Nature 418: 654-657, 2002.
[0015636]6224.Lawson, J. S.; Field, A. S.; Champion, S.; Tran, D.; Ishikura, H.; Trichopoulos, D.: Low oestrogen receptor alpha expression in normal breast tissue underlies low breast cancer incidence in Japan. (Letter) Lancet 354: 1787-1788, 1999.
[0015637]6225.Lonard, D. M.; Nawaz, Z.; Smith, C. L.; O'Malley, B. W.: The 26S proteasome is required for estrogen receptor-alpha and coactivator turnover and for efficient estrogen receptor-alpha transactivation. Molec. Cell 5: 939-948, 2000.
[0015638]6226.Lorentzon, M.; Lorentzon, R.; Backstrom, T.; Nordstrom, P.: Estrogen receptor gene polymorphism, but not estradiol levels, is related to bone density in healthy adolescent boys: a crosssectional and longitudinal study. J. Clin. Endocr. Metab. 84: 4597-4601, 1999.
[0015639]6227.Mader, S.; Kumar, V.; de Verneuil, H.; Chambon, P.: Three amino acids of the oestrogen receptor are essential to its ability to distinguish an oestrogen from a glucocorticoid-responsive element. Nature 338: 271-274, 1989.
[0015640]6228.McGuire, W. L.; Chamness, G. C.; Fuqua, S. A. W.: Estrogen receptor variants in clinical breast cancer. Molec. Endocr. 5: 1571-1577, 1991.
[0015641]6229.McGuire, W. L.; Chamness, G. C.; Fuqua, S. A. W.: Abnormal estrogen receptor in clinical breast cancer. J. Steroid Biochem. Molec. Biol. 43: 243-247, 1992.
[0015642]6230.McInerney, E. M.; Ince, B. A.; Shapiro, D. J.; Katzenellenbogen, B. S.: A transcriptionally active estrogen receptor mutant is a novel type of dominant negative inhibitor of estrogen action. Molec. Endocr. 10: 1519-1526, 1996.
[0015643]6231.Menasce, L. P.; White, G. R. M.; Harrison, C. J.; Boyle, J. M. : Localization of the estrogen receptor locus (ESR) to chromosome 6q25.1 by FISH and a simple post-FISH banding technique. Genomics 17: 263-265, 1993.
[0015644]6232.Metzger, D.; White, J. H.; Chambon, P.: The human oestrogen receptor functions in yeast. Nature 334: 31-36, 1988.
[0015645]6233.Murphy, L. C.; Wang, M.; Coutt, A.; Dotzlaw, H.: Novel mutations in the estrogen receptor messenger RNA in human breast cancers. J. Clin. Endocr. Metab. 81: 1420-1427, 1996.
[0015646]6234.Pelletier, G.; El-Alfy, M.: Immunocytochemical localization of estrogen receptors alpha and beta in the human reproductive organs. J. Clin. Endocr. Metab. 85: 4835-4840, 2000.
[0015647]6235.Ponglikitmongkol, M.; Green, S.; Chambon, P.: Genomic organization of the human oestrogen receptor gene. EMBO J. 7: 3385-3388, 1988.
[0015648]6236.Reese, J. C.; Katzenellenbogen, B. S.: Characterization of a temperature-sensitive mutation in the hormone binding domain of the human estrogen receptor: studies in cell extracts and intact cells and their implications for hormone-dependent transcriptional activation. J. Biol. Chem. 267: 9868-9873, 1992.
[0015649]6237.Reese, J. C.; Katzenellenbogen, B. S.: Mutagenesis of cysteines in the hormone binding domain of the human estrogen receptor: alterations in binding and transcriptional activation by covalently and reversibly attaching ligands. J. Biol. Chem. 266: 10880-10887, 1991.
[0015650]6238.Scott, G. K.; Kushner, P.; Vigne, J.-L.; Benz, C. C.: Truncated forms of DNA-binding estrogen receptors in human breast cancer. J. Clin. Invest. 88: 700-706, 1991.
[0015651]6239.Shang, Y.; Brown, M.: Molecular determinants for the tissue specificity of SERMs. Science 295: 2465-2468, 2002.
[0015652]6240.Shiau, A. K.; Barstad, D.; Loria, P. M.; Cheng, L.; Kushner, P. J.; Agard, D. A.; Greene, G. L.: The structural basis of estrogen receptor/coactivator recognition and the antagonism of this interaction by tamoxifen. Cell 95: 927-937, 1998.
[0015653]6241.Shupnik, M. A.; Pitt, L. K.; Soh, A. Y.; Anderson, A.; Lopes, M. B.; Laws, E. R., Jr.: Selective expression of estrogen receptor alpha and beta isoforms in human pituitary tumors. J. Clin. Endocr. Metab. 83: 3965-3972, 1998.
[0015654]6242.Simoncini, T.; Hafezi-Moghadam, A.; Brazil, D. P.; Ley, K.; Chin, W. W.; Liao, J. K.: Interaction of oestrogen receptor with the regulatory subunit of phosphatidylinositol-3-OH kinase. Nature 407: 538-541, 2000.
[0015655]6243.Sluyser, M.: Mutations in the estrogen receptor gene. Hum. Mutat. 6: 97-103, 1995.
[0015656]6244.Sluyser, M.; Mester, J.: Oncogenes homologous to steroid receptors? (Letter) Nature 315: 546 only, 1985.
[0015657]6245.Smith, E. P.; Boyd, J.; Frank, G. R.; Takahashi, H.; Cohen, R. M.; Specker, B.; Williams, T. C.; Lubahn, D. B.; Korach, K. S.: Estrogen resistance caused by a mutation in the estrogenreceptor gene in a man. New Eng. J. Med. 331: 1056-1061, 1994.
[0015658]6246.Sudhir, K.; Chou, T. M.; Chatterjee, K.; Smith, E. P.; Williams, T. C.; Kane, J. P.; Malloy, M. J.; Korach, K. S.; Rubanyi, G. M.: Premature coronary artery disease associated with a disruptive mutation in the estrogen receptor gene in a man. Circulation 96: 3774-3777, 1997.
[0015659]6247.Takeyama, J.; Suzuki, T.; Inoue, S.; Kaneko, C.; Nagura, H.; Harada, N.; Sasano, H.: Expression and cellular localization of estrogen receptors alpha and beta in the human fetus. J. Clin. Endocr. Metab. 86: 2258-2262, 2001.
[0015660]6248.Walter, P.; Green, S.; Greene, G.; Krust, A.; Bornert, J.-M.; Jeltsch, J.-M.; Staub, A.; Jensen, E.; Scrace, G.; Waterfield, M.; Chambon, P.: Cloning of the human estrogen receptor cDNA. Proc. Nat. Acad. Sci. 82: 7889-7893, 1985.
[0015661]6249.Weel, A. E. A. M.; Uitterlinden, A. G.; Westendorp, I. C. D.; Burger, H.; Schuit, S. C. E.; Hofman, A.; Helmerhorst, T. J. M.; van Leeuwen, J. P. T. M.; Pols, H. A. P.: Estrogen receptor polymorphism predicts the onset of natural and surgical menopause. J. Clin. Endocr. Metab. 84: 3146-3150, 1999.
[0015662]6250.Weis, K. E.; Ekena, K.; Thomas, J. A.; Lazennec, G.; Katzenellenbogen, B. S.: Constitutively active human estrogen receptors containing amino acid substitutions for tyrosine 537 in the receptor protein. Molec. Endocr. 10: 1388-1398, 1996.
[0015663]6251.Barton, D. E.; Arquint, M.; Roder, J.; Dunn, R.; Francke, U.: The myelin-associated glycoprotein gene: mapping to human chromosome 19 and mouse chromosome 7 and expression in quivering mice. Genomics 1: 107-112, 1987.
[0015664]6252.Liu, B. P.; Fournier, A.; GrandPre, T.; Strittmatter, S. M.: Myelin-associated glycoprotein as a functional ligand for the Nogo-66 receptor. Science 297: 1190-1193, 2002.
[0015665]6253.Barker, D. F.; Wright, E.; Nguyen, K.; Cannon, L.; Fain, P.; Goldgar, D.; Bishop, D. T.; Carey, J.; Baty, B.; Kivlin, J.; Willard, H.; Waye, J. S.; Greig, G.; Leinwand, L.; Nakamura, Y.; O'Connell, P.; Leppert, M.; Lalouel, J.-M.; White, R.; Skolnick, M.: The gene for NF1 (von Recklinghausen neurofibromatosis) is on chromosome 17 near the centromere. (Abstract) Cytogenet. Cell Genet. 46: 576, 1987.
[0015666]6254.Barrall, J. L.; Summers, C. G.: Ocular ischemic syndrome in a child with moyamoya disease and neurofibromatosis. Surv. Ophthal. 40: 500-504, 1996.
[0015667]6255.Basu, T. N.; Gutmann, D. H.; Fletcher, J. A.; Glover, T. W.; Collins, F. S.; Downward, J.: Aberrant regulation of ras proteins in malignant tumour cells from type 1 neurofibromatosis patients. Nature 356: 713-715, 1992.
[0015668]6256.Benatar, M. G.: Intracranial fusiform aneurysms in von Recklinghausen's disease: case report and literature review. (Letter) J. Neurol. Neurosurg. Psychiat. 63: 1279-1280, 1994.
[0015669]6257.Benedict, P. H.; Szabo, G.; Fitzpatrick, T. B.; Sinesi, S. J. : Melanotic macules in Albright's syndrome and in neurofibromatosis. J.A.M.A. 205: 618-626, 1968.
[0015670]6258.Bidot-Lopez, P.; Frankel, J. W.: Enhanced viral transformation of skin fibroblasts from neurofibromatosis patients. Ann. Clin. Lab. Sci. 13: 27-32, 1983.
[0015671]6259.Borberg, A.: Clinical and genetic investigations into tuberous sclerosis and Recklinghausen's neurofibromatosis: contribution to elucidation of interrelationship and eugenics of the syndromes. Acta Psychiat. Neurol. 71 (suppl.): 1-239, 1951.
[0015672]6260.Boudin, G.; Pepin, B.; Vernant, C.: Les tumeurs multiples du systeme nerveux au cours de la maladie de Recklinghausen: a propos d'une observation anatomo-clinique avec adenome chromophobe de l'hypophyse. Presse Med. 78: 1427-1430, 1970.
[0015673]6261.Brunner, H.; Stacher, G.; Bankl, H.; Grabner, G.: Chronic mesenteric arterial insufficiency caused by vascular neurofibromatosis: a case report. Am. J. Gastroent. 62: 442-447, 1974.
[0015674]6262.Buchberg, A. M.; Cleveland, L. S.; Jenkins, N. A.; Copeland, N. G.: Sequence homology shared by neurofibromatosis type-1 gene and IRA-1 and IRA-2 negative regulators of the RAS cyclic AMP pathway. Nature 347: 291-294, 1990.
[0015675]6263.Buntin, P. T.; Fitzgerald, J. F.: Gastrointestinal neurofibromatosis: a rare cause of chronic anemia. Am. J. Dis. Child. 119: 521-523, 1970.
[0015676]6264.Cappione, A. J.; French, B. L.; Skuse, G. R.: A potential role for NF1 mRNA editing in the pathogenesis of NF1 tumors. Am. J. Hum. Genet. 60: 305-312, 1997.
[0015677]6265.Cawthon, R. M.; Viskochil, D.; O'Connell, P.; Buchberg, A.; Andersen, L.; Wallace, M.; Marchuk, D.; Stevens, J.; Culver, M.; Xu, G.; Collins, F. S.; Jenkins, N.; Copeland, N.; White, R.: Identification and characterization of several genes between or nearby neurofibromatosis type I translocation breakpoint. (Abstract) Am. J. Hum. Genet. 47 (suppl.): A109, 1990.
[0015678]6266.Cawthon, R. M.; Weiss, R.; Xu, G.; Viskochil, D.; Culver, M.; Stevens, J.; Robertson, M.; Dunn, D.; Gesteland, R.; O'Connell, P.; White, R.: A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cell 62: 193-201, 1990.
[0015679]6267.Charron, J. W.; Gariepy, G.: Neurofibromatosis of bladder: case report and review of the literature. Canad. J. Surg. 13: 303-306, 1970.
[0015680]6268.Chu, M.-H.; Lee, H.-C.; Shen, E.-Y.; Wang, N.-L.; Yeung, C.-Y.; Chen, B.-F.; Shih, S.-L.: Gastro-intestinal bleeding caused by leiomyoma of the small intestine in a child with neurofibromatosis. Europ. J. Pediat. 158: 460-462, 1999.
[0015681]6269.Cichowski, K.; Shih, T. S.; Schmitt, E.; Santiago, S.; Reilly, K.; McLaughlin, M. E.; Bronson, R. T.; Jacks, T.: Mouse models of tumor development in neurofibromatosis type 1. Science 286: 2172-2176, 1999.
[0015682]6270.Clark, R. D.; Hutter, J. J., Jr.: Familial neurofibromatosis and juvenile chronic myelogenous leukemia. Hum. Genet. 60: 230-232, 1982.
[0015683]6271.Clark, S. S.; Marlett, M.; Prudencio, R.; Dasgupta, T. K.: Neurofibromatosis of the bladder in children: case report and literature review. J. Urol. 118: 654-656, 1977.
[0015684]6272.Clementi, M.; Barbujani, G.; Turolla, L.; Tenconi, R.: Neurofibromatosis-1: a maximum likelihood estimation of mutation rate. Hum. Genet. 84: 116-118, 1990.
[0015685]6273.Clementi, M.; Milani, S.; Mammi, I.; Boni, S.; Monciotti, C.; Tenconi, R.: Neurofibromatosis type 1 growth charts. Am. J. Med. Genet. 87: 317-323, 1999.
[0015686]6274.Auwerx, J.; Staels, B.: Leptin. Lancet 351: 737-742, 1998.
[0015687]6275.Bado, A.; Levasseur, S.; Attoub, S.; Karmorgant, S.; Laigneau, J.-P.; Bortoluzzi, M.-N.; Moizo, L.; Lehy, T.; Guerre-Millo, M.; Le Marchand-Brustel, Y.; Lewin, M. J. M.: The stomach is a source of leptin. Nature 394: 290-293, 1998.
[0015688]6276.Cnossen, M. H.; Moons, K. G. M.; Garssen, M. P. J.; Pasmans, N. M. T.; de Goede-Bolder, A.; Niermeijer, M. F.; Grobbee, D. E.; Neurofibromatosis Team of Sophia Children's Hospital: Minor disease features in neurofibromatosis type 1 (NF1) and their possible value in diagnosis of NF1 in children less than 6 years and clinically suspected of having NF1. J. Med. Genet. 35: 624-627, 1998.
[0015689]6277.Cnossen, M. H.; van der Est, M. N.; Breuning, M. H.; van Asperen, C. J.; Breslau-Siderius, E. J.; van der Ploeg, A. T.; de Goede-Bolder, A.; van den Ouweland, A. M. W.; Halley, D. J. J.; Niermeijer, M. F. : Deletions spanning the neurofibromatosis type 1 gene: implications for genotypephenotype correlations in neurofibromatosis type 1? Hum. Mutat. 9: 458-464, 1997.
[0015690]6278.Cohen, M. M., Jr.: Further diagnostic thoughts about the Elephant Man. Am. J. Med. Genet. 29: 777-782, 1988.
[0015691]6279.Colman, S. D.; Rasmussen, S. A.; Ho, V. T.; Abernathy, C. R.; Wallace, M. R.: Somatic mosaicism in a patient with neurofibromatosis type 1. Am. J. Hum. Genet. 58: 484-490, 1996.
[0015692]6280.Colman, S. D.; Williams, C. A.; Wallace, M. R.: Benign neurofibromas in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 gene. Nature Genet. 11: 90-92, 1995.
[0015693]6281.Combemale, P.; Abitan, R.; Kanitakis, J.: Segmental neurofibromatosis: report of two cases and critical review of the literature. Europ. J. Derm. 4: 194-201, 1994.
[0015694]6282.Correa, C. L.; Brems, H.; Lazaro, C.; Marynen, P.; Legius, E. : Unequal meiotic crossover: a frequent cause of NF1 microdeletions. Am. J. Hum. Genet. 66: 1969-1974, 2000.
[0015695]6283.Costa, R. M.; Federov, N. B.; Kogan, J. H.; Murphy, G. G.; Stern, J.; Ohno, M.; Kucherlapati, R.; Jacks, T.; Silva, A. J.: Mechanism for the learning deficits in a mouse model of neurofibromatosis type 1. Nature 415: 526-530, 2002.
[0015696]6284.Blain, H.; Vuillemin, A.; Guillemin, F.; Durant, R.; Hanesse, B.; de Talance, N.; Doucet, B.; Jeandel, C.: Serum leptin level is a predictor of bone mineral density in postmenopausal women. J. Clin. Endocr. Metab. 87: 1030-1035, 2002.
[0015697]6285.Campfield, L. A.; Smith, F. J.; Guisez, Y.; Devos, R.; Burn, P. : Recombinant mouse OB protein: evidence for a peripheral signal linking adiposity and central neural networks. Science 269: 546-549, 1995.
[0015698]6286.Cao, R.; Brakenhielm, E.; Wahlestedt, C.; Thyberg, J.; Cao, Y. : Leptin induces vascular permeability and synergistically stimulates angiogenesis with FGF-2 and VEGF. Proc. Nat. Acad. Sci. 98: 6390-6395, 2001.
[0015699]6287.van de Vijver, M. J.; Peterse, J. L.; Mooi, W. J.; Wisman, P.; Lomans, J.; Dalesio, O.; Nusse, R.: NEU-protein overexpression in breast cancer: association with comedo-type ductal carcinoma in situ and limited prognostic value in stage II breast cancer. New Eng. J. Med. 319: 1239-1245, 1988.
[0015700]6288.Xie, D.; Shu, X. O.; Deng, Z.; Wen, W.-Q.; Creek, K. E.; Dai, Q., Gao, Y.-T.; Jin, F.; Zheng, W.: Population-based, case-control study of HER2 genetic polymorphism and breast cancer risk. J. Nat. Cancer Inst. 92: 412-417, 2000.
[0015701]6289.Yamamoto, T.; Ikawa, S.; Akiyama, T.; Semba, K.; Nomura, N.; Miyajima, N.; Saito, T.; Toyoshima, K.: Similarity of protein encoded by the human c-erb-B-2 gene to epidermal growth factor receptor. Nature 319: 230-234, 1986.
[0015702]6290.Yang-Feng, T. L.; Schechter, A. L.; Weinberg, R. A.; Francke, U.: Oncogene from rat neuro/glioblastomas (human gene symbol NGL) is located on the proximal long arm of human chromosome 17 and EGFR is confirmed at 7p13-q11.2. (Abstract) Cytogenet. Cell Genet. 40: 784 only, 1985.
[0015703]6291.Yu, D.; Jing, T.; Liu, B.; Yao, J.; Tan, M.; McDonnell, T. J.; Hung, M.-C.: Overexpression of ErbB2 blocks Taxol-induced apoptosis by upregulation of p21Cip1, which inhibits p34Cdc2 kinase. Molec. Cell 2: 581-591, 1998.
[0015704]6292.Klappacher, G. W.; Lunyak, V. V.; Sykes, D. B.; Sawka-Verhelle, D.; Sage, J.; Brard, G.; Ngo, S. D.; Gangadharan, D.; Jacks, T.; Kamps, M. P.; Rose, D. W.; Rosenfeld, M. G.: An induced Ets repressor complex regulates growth arrest during terminal macrophage differentiation. Cell 109: 169-180, 2002.
[0015705]6293.Klemsz, M.; Hromas, R.; Raskind, W.; Bruno, E.; Hoffman, R.: PE-1, a novel ETS oncogene family member, localizes to chromosome 1q21-q23. Genomics 20: 291-294, 1994.
[0015706]6294.Kastury, K.; Li, J.; Druck, T.; Su, H.; Vogt, P. K.; Croce, C. M.; Huebner, K.: The human homologue of the retroviral oncogene qin maps to chromosome 14q13. Proc. Nat. Acad. Sci. 91: 3616-3618, 1994.
[0015707]6295.Li, J.; Chang, H. W.; Lai, E.; Parker, E. J.; Vogt, P. K.: The oncogene qin codes for a transcriptional repressor. Cancer Res. 55: 5540-5544, 1995.
[0015708]6296.Li, J.; Vogt, P. K.: The retroviral oncogene qin belongs to the transcription factor family that includes the homeotic gene fork head. Proc. Nat. Acad. Sci. 90: 4490-4494, 1993.
[0015709]6297.Murphy, D. B.; Wiese, S.; Burfeind, P.; Schmundt, D.; Mattei, M.-G.; Schulz-Schaeffer, W.; Thies, U.: Human brain factor 1, a new member of the fork head gene family. Genomics 21: 551-557, 1994.
[0015710]6298.Wiese, S.; Murphy, D. B.; Schlung, A.; Burfeind, P.; Schmundt, D.; Schnulle, V.; Mattei, M.-G.; Thies, U.: The genes for human brain factor 1 and 2, members of the fork head gene family, are clustered on chromosome 14q. Biochim. Biophys. Acta 1262: 105-112, 1995.
[0015711]6299.Bustelo, X. R.: Regulatory and signaling properties of the Vav family. Molec. Cell. Biol. 20: 1461-1477, 2000.
[0015712]6300.Bustelo, X. R.; Barbacid, M.: Tyrosine phosphorylation of the VAV proto-oncogene product in activated B cells. Science 256: 1196-1199, 1992.
[0015713]6301.Denkinger, D. J.; Borges, C. R.; Butler, C. L.; Cushman, A. M.; Kawahara, R. S.: Genomic organization and regulation of the vav proto-oncogene. Biochim. Biophys. Acta 1491: 253-262, 2000.
[0015714]6302.Fackler, O. T.; Luo, W.; Geyer, M.; Alberts, A. S.; Peterlin, B. M.: Activation of Vav by Nef induces cytoskeletal rearrangements and downstream effector functions. Molec. Cell 3: 729-739, 1999.
[0015715]6303.Fischer, K.-D.; Zmuidzinas, A.; Gardner, S.; Barbacid, M.; Bernstein, A.; Guidos, C.: Defective T-cell receptor signalling and positive selection of Vav-deficient CD4(+) CD8(+) thymocytes. Nature 374: 474-477, 1995.
[0015716]6304.Katzav, S.; Martin-Zanca, D.; Barbacid, M.: VAV, a novel human oncogene derived from a locus ubiquitously expressed in hematopoietic cells. EMBO J. 8: 2283-2290, 1989.
[0015717]6305.Martinerie, C.; Cannizzaro, L. A.; Croce, C. M.; Huebner, K.; Katzav, S.; Barbacid, M.: The human VAV proto-oncogene maps to chromosome region 19p12-19p13.2. Hum. Genet. 86: 65-68, 1990.
[0015718]6306.Moores, S. L.; Selfors, L. M.; Fredericks, J.; Breit, T.; Fujikawa, K.; Alt, F. W.; Brugge, J. S.; Swat, W.: Vav family proteins couple to diverse cell surface receptors. Molec. Cell. Biol. 20: 6364-6373, 2000.
[0015719]6307.Tarakhovsky, A.; Turner, M.; Schaal, S.; Mee, P. J.; Duddy, L. P.; Rajewsky, K.; Tybulewicz, V. L. J.: Defective antigen receptor-mediated proliferation of B and T cells in the absence of Vav. Nature 374: 467-470, 1995.
[0015720]6308.Zhang, R.; Alt, F. W.; Davidson, L.; Orkin, S. H.; Swat, W.: Defective signalling through the T- and B-cell antigen receptors in lymphoid cells lacking the vav proto-oncogene. Nature 374: 470-473, 1995.
[0015721]6309.Fukuhara, S.; Rowley, J. D.; Variakojis, D.; Sweet, D. L.: Chromosome abnormalities in poorly differentiated lymphocytic lymphoma. Cancer Res. 39: 3119-3128, 1979.
[0015722]6310.Ohno, H.; Fukuhara, S.; Takahashi, R.; Mihara, K.; Sugiyama, T.; Doi, S.; Uchino, H.; Toyoshima, K.: c-yes and bcl-2 genes located on 18q21.3 in a follicular lymphoma cell line carrying a t(14;18) chromosomal translocation. Int. J. Cancer 39: 785-788, 1987.
[0015723]6311.Semba, K.; Nishizawa, M.; Satoh, H.; Fukushige, S.; Yoshida, M. C.; Sasaki, M.; Matsubara, K.; Yamamoto, T.; Toyoshima, K.: Nucleotide sequence and chromosomal mapping of the human c-yes-2 gene. Jpn. J. Cancer Res. 79: 710-717, 1988.
[0015724]6312.Semba, K.; Yamanashi, Y.; Nishizawa, M.; Sukegawa, J.; Yoshida, M.; Sasaki, M.; Yamamoto, T.; Toyoshima, K.: Location of the c-yes gene on the human chromosome and its expression in various tissues. Science 227: 1038-1040, 1985.
[0015725]6313.Silverman, G. A.; Kuo, W.-L.; Taillon-Miller, P.; Gray, J. W.: Chromosomal reassignment: YACs containing both YES1 and thymidylate synthase map to the short arm of chromosome 18. Genomics 15: 442-445, 1993.
[0015726]6314.Sukegawa, J.; Semba, K.; Yamanashi, Y.; Nishizawa, M.; Miyajima, N.; Yamamoto, T.; Toyoshima, K.: Characterization of cDNA clones for the human c-yes gene. Molec. Cell. Biol. 7: 41-47, 1987.
[0015727]6315.Alves, S. E.; Lopez, V.; McEwen, B. S.; Weiland, N. G.: Differential colocalization of estrogen receptor beta (ER-beta) with oxytocin and vasopressin in the paraventricular and supraoptic nuclei of the female rat brain: an immunocytochemical study. Proc. Nat. Acad. Sci. 95: 3281-3286, 1998.
[0015728]6316.Brownstein, M. J.; Russell, J. T.; Gainer, H.: Synthesis, transport, and release of posterior pituitary hormones. Science 207: 373-378, 1980.
[0015729]6317.Gopal Rao, V. V. N.; Loffler, C.; Battey, J.; Hansmann, I.: The human gene for oxytocin-neurophysin I (OXT) is physically mapped to chromosome 20p13 by in situ hybridization. Cytogenet. Cell Genet. 61: 271-273, 1992.
[0015730]6318.Marini, J. C.; Nelson, K. K.; Battey, J.; Siracusa, L. D.: The pituitary hormones arginine vasopressin-neurophysin II and oxytocin-neurophysin I show close linkage with interleukin-1 on mouse chromosome 2. Genomics 15: 200-202, 1993.
[0015731]6319.Inoue, T.; Kimura, T.; Azuma, C.; Inazawa, J.; Takemura, M.; Kikuchi, T.; Kubota, Y.; Ogita, K.; Saji, F.: Structural organization of the human oxytocin receptor gene. J. Biol. Chem. 269: 32451-32456, 1994.
[0015732]6320.Kimura, T.; Tanizawa, O.; Mori, K.; Brownstein, M. J.; Okayama, H.: Structure and expression of a human oxytocin receptor. Nature 356: 526-529, 1992.
[0015733]6321.Simmons, C. F., Jr.; Clancy, T. E.; Quan, R.; Knoll, J. H. M.: The oxytocin receptor gene (OXTR) localizes to human chromosome 3p25 by fluorescence in situ hybridization and PCR analysis of somatic cell hybrids. Genomics 26: 623-625, 1995.
[0015734]6322.Yang, M.; Wang, W.; Zhong, M.; Philippi, A.; Lichtarge, O.; Sanborn, B. M.: Lysine 270 in the third intracellular domain of the oxytocin receptor is an important determinant for G-alpha-q coupling specificity. Molec. Endocr. 16: 814-823, 2002.
[0015735]6323.Cotlier, E.: Cafe-au-lait spots of the fundus in neurofibromatosis. Arch. Ophthal. 95: 1990-1992, 1977.
[0015736]6324.Craddock, G. R., Jr.; Challa, V. R.; Dean, R. H.: Neurofibromatosis and renal artery stenosis: a case of familial incidence. J. Vasc. Surg. 8: 489-494, 1988.
[0015737]6325.Crawford, A. H.: Neurofibromatosis in children. Acta Orthop. Scand. 57 (suppl. 218): 9-60, 1986.
[0015738]6326.Crowe, F. W.: Axillary freckling as a diagnostic aid in neurofibromatosis. Ann. Intern. Med. 61: 1142-1143, 1964.
[0015739]6327.Crowe, F. W.; Schull, W. J.; Neel, J. V.: A Clinical, Pathological and Genetic Study of Multiple Neurofibromatosis. Springfield, Ill.: Charles C Thomas (pub.) 1956.
[0015740]6328.D'Agostino, A. N.; Soule, E. H.; Miller, R. H.: Sarcomas of the peripheral nerves and somatic soft tissue associated with multiple neurofibromatosis. Cancer 16: 1015-1027, 1963.
[0015741]6329.Daston, M. M.; Scrable, H.; Nordlund, M.; Sturbaum, A. K.; Nissen, L. M.; Ratner, N.: The protein product of the neurofibromatosis type 1 gene is expressed at highest abundance in neurons, Schwann cells, and oligodendrocytes. Neuron 8: 415-428, 1992.
[0015742]6330.DeBella, K.; Szudek, J.; Friedman, J. M.: Use of the National Institutes of Health Criteria for Diagnosis of Neurofibromatosis 1 in children. Pediatrics 105: 608-614, 2000.
[0015743]6331.DeClue, J. E.; Cohen, B. D.; Lowy, D. R.: Identification and characterization of the neurofibromatosis type 1 protein product. Proc. Nat. Acad. Sci. 88: 9914-9918, 1991.
[0015744]6332.DeClue, J. E.; Papageorge, A. G.; Fletcher, J. A.; Diehl, S. R.; Ratner, N.; Vass, W. C.; Lowy, D. R.: Abnormal regulation of mammalian p21(ras) contributes to malignant tumor growth in von Recklinghausen (type 1) neurofibromatosis. Cell 69: 265-273, 1992.
[0015745]6333.Dent, C. E.: Rickets and osteomalacia from renal tubular defects. J. Bone Joint Surg. 34B: 266-274, 1952.
[0015746]6334.Diehl, S. R.; Boehnke, M.; Erickson, R. P.; Ploughman, L. M.; Seiler, K. A.; Lieberman, J. L.; Clarke, H. B.; Bruce, M. A.; Schorry, E. K.; Pericak-Vance, M.; O'Connell, P.; Collins, F. S.: A refined genetic map of the region of chromosome 17 surrounding the von Recklinghausen neurofibromatosis (NF1) gene. Am. J. Hum. Genet. 44: 33-37, 1989.
[0015747]6335.Diekmann, L.; Huther, W.; Pfeiffer, R. A.: Ungewoehnliche Erscheinungsformen der Neurofibromatose (von Recklinghausensche Krankheit) im Kindesalter. Z. Kinderheilk. 101: 191-222, 1967.
[0015748]6336.Dietz, J. N.; Robbins, T.; Schwartz, C.; Cannon, L.; McLellan, T.; Williamson, R.; Carey, J.; Johnson, J.; Kivlin, J.; Skolnick, M. H.: Linkage analysis of neurofibromatosis: chromosomes 4 and 19. (Abstract) Am. J. Hum. Genet. 37: A193, 1985.
[0015749]6337.DiLiberti, J. H.; Buist, N. R. M.; Rosenberg, N.; Andrews, T. : Myotonic dystrophy, hyperparathyroidism and multiple endocrine adenomatosis type 2A. (Abstract) Am. J. Hum. Genet. 34: 86A, 1982.
[0015750]6338.Dorschner, M. O.; Sybert, V. P.; Weaver, M.; Pletcher, B. A.; Stephens, K.: NF1 microdeletion breakpoints are clustered at flanking repetitive sequences. Hum. Molec. Genet. 9: 35-46, 2000.
[0015751]6339.Dugoff, L.; Sujansky, E.: Neurofibromatosis type 1 and pregnancy. Am. J. Med. Genet. 66: 7-10, 1996.
[0015752]6340.Duncan, A. M. V.; Partington, M. W.; Soudek, D.: Neurofibromatosis in a man with a ring 22: in situ hybridization studies. Cancer Genet. Cytogenet. 25: 169-174, 1987.
[0015753]6341.Dunn, B. G.; Ferrell, R. E.; Riccardi, V. M.: A genetic linkage study in 15 families of individuals with von Recklinghausen neurofibromatosis. Am. J. Med. Genet. 22: 403-407, 1985.
[0015754]6342.Dunn, F. G.; DeCarvalho, J. G. R.; Kem, D. C.; Higgins, J. R.; Frohlich, E. D.: Pheochromocytoma crisis induced by saralasin: relation of angiotensin analogue to catecholamine release. New Eng. J. Med. 295: 605-607, 1976.
[0015755]6343.Easton, D. F.; Ponder, M. A.; Huson, S. M.; Ponder, B. A. J.: An analysis of variation in expression of neurofibromatosis (NF) type I (NF1): evidence for modifying genes. Am. J. Hum. Genet. 53: 305-313, 1993.
[0015756]6344.Edwards, J. H.: Personal Communication. Oxford, England 10/1990.
[0015757]6345.Eichhorn, C.; Wendt, G.; Staudte, H.-W.; Gilsbach, J.-M.: Dural ectasia in Von Recklinghausen's disease of the lumbar spine: a case report. J. Bone Joint Surg. 77: B834-B835, 1995.
[0015758]6346.Eisenbarth, I.; Beyer, K.; Krone, W.; Assum, G.: Toward a survey of somatic mutation of the NF1 gene in benign neurofibromas of patients with neurofibromatosis type 1. Am. J. Hum. Genet. 66: 393-401, 2000.
[0015759]6347.Erickson, R. P.; Woolliscroft, J.; Allen, R. J.: Familial occurrence of intracranial arterial occlusive disease (moyamoya) in neurofibromatosis. Clin. Genet. 18: 191-196, 1980.
[0015760]6348.Estivill, X.; Lazaro, C.; Casals, T.; Ravella, A.: Recurrence of a nonsense mutation in the NF1 gene causing classical neurofibromatosis type 1. Hum. Genet. 88: 185-188, 1991.
[0015761]6349.Fabricant, R. N.; Todaro, G. J.: Increased serum levels of nerve growth factor in von Recklinghausen's disease. Arch. Neurol. 38: 401-405, 1981.
[0015762]6350.Owerbach, D.; Rutter, W. J.; Cooke, N. E.; Martial, J. A.; Shows, T. B.: The prolactin gene is located on chromosome 6 in humans. Science 212: 815-816, 1981.
[0015763]6351.Shome, B.; Parlow, A. F.: Human pituitary prolactin (hPRL): the entire linear amino acid sequence. J. Clin. Endocr. Metab. 45: 1112-1115, 1977.
[0015764]6352.Sun, Z.; Lee, M. S.; Rhee, H. K.; Arrandale, J. M.; Dannies, P. S.: Inefficient secretion of human H27A-prolactin, a mutant that does not bind Zn(2+). Molec. Endocr. 11: 1544-1551, 1997.
[0015765]6353.Taggart, R. T.; Mohandas, T. K.; Bell, G. I.: Assignment of the human preprogastricsin (PGC) to chromosome 6 and regional localization of PGC (6pter-p21.1), prolactin PRL (6pter-p21.1). (Abstract) Cytogenet. Cell Genet. 46: 701-702, 1987.
[0015766]6354.Truong, A. T.; Duez, C.; Belayew, A.; Renard, A.; Pictet, R.; Bell, G. I.; Martial, J. A.: Isolation and characterization of the human prolactin gene. EMBO J. 3: 429-437, 1984.
[0015767]6355.Slate, D. L.; Ruddle, F. H.: Fibroblast interferon in man is coded by two loci on separate chromosomes. Cell 16: 171-180, 1979.
[0015768]6356.Rosenberg, M.; RayChaudhury, A.; Shows, T. B.; Le Beau, M. M.; Fuchs, E.: A group of type I keratin genes on human chromosome 17: characterization and expression. Molec. Cell. Biol. 8: 722-736, 1988.
[0015769]6357.Gross, J. A.; Johnston, J.; Mudri, S.; Enselman, R.; Dillon, S. R.; Madden, K.; Xu, W.; Parrish-Novak, J.; Foster, D.; Lofton-Day, C.; Moore, M.; Littau, A.; Grossman, A.; Haugen, H.; Foley, K.; Blumberg, H.; Harrison, K.; Kindsvogel, W.; Clegg, C. H.: TACI and BCMA are receptors for a TNF homologue implicated in B-cell autoimmune disease. Nature 404: 995-999, 2000.
[0015770]6358.Watkins, D.; Rosenblatt, D. S.: Genetic heterogeneity among patients with methylcobalamin deficiency. J. Clin. Invest. 81: 1690-1694, 1988.
[0015771]6359.Sato, S.; Fujita, N.; Kurihara, T.; Kuwano, R.; Sakimura, K.; Takahashi, Y.; Miyatake, T.: cDNA cloning and amino acid sequence for human myelin-associated glycoprotein. Biochem. Biophys. Res. Commun. 163: 1473-1480, 1989.
[0015772]6360.Lafage, M.; Clauss, I.; Couez, D.; Simonetti, J.; Wathelet, M. G.; Huez, G.: The interferon- and virus-inducible IFI-56K and IFI-54K genes are located on human chromosome 10 at bands q23-q24. Genomics 13: 458-460, 1992.
[0015773]6361.de Wit, T. P. M.; Morton, H. C.; Capel, P. J. A.; van de Winkel, J. G. J.: Structure of the gene for the human myeloid IgA Fc receptor (CD89). J. Immun. 155: 1203-1209, 1995.
[0015774]6362.Kremer, E. J.; Kalatzis, V.; Baker, E.; Callen, D. F.; Sutherland, G. R.; Maliszewski, C. R.: The gene for the human IgA Fc receptor maps to 19q13.4. Hum. Genet. 89: 107-108, 1992.
[0015775]6363.Maliszewski, C. R.; March, C. J.; Schoenborn, M. A.; Gimpel, S.; Shen, L.: Expression cloning of a human Fc receptor for IgA. J. Exp. Med. 172: 1665-1672, 1990.
[0015776]6364.Monteiro, R. C.; Hostoffer, R. W.; Cooper, M. D.; Bonner, J. R.; Gartland, G. L.; Kubagawa, H.: Definition of immunoglobulin A receptors on eosinophils and their enhanced expression in allergic individuals. J. Clin. Invest. 92: 1681-1685, 1993.
[0015777]6365.Narita, I.; Goto, S.; Saito, N.; Sakatsume, M.; Jin, S.; Omori, K.; Gejyo, F.: Genetic polymorphisms in the promoter and 5-prime UTR region of the Fc alpha receptor (CD89) are not associated with a risk of IgA nephropathy. J. Hum. Genet. 46: 694-698, 2001.
[0015778]6366.Pleass, R. J.; Andrews, P. D.; Kerr, M. A.; Woof, J. M.: Alternative splicing of the human IgA Fc receptor CD89 in neutrophils and eosinophils. Biochem. J. 318: 771-777, 1996.
[0015779]6367.Shimokawa, T.; Tsuge, T.; Okumura, K.; Ra, C.: Identification and characterization of the promoter for the gene encoding the human myeloid IgA Fc receptor (Fc-alpha-R, CD89). Immunogenetics 51: 945-954, 2000.
[0015780]6368.Tsuge, T.; Shimokawa, T.; Horikoshi, S.; Tomino, Y.; Ra, C.: Polymorphism in promoter region of Fc-alpha receptor gene in patients with IgA nephropathy. Hum. Genet. 108: 128-133, 2001.
[0015781]6369.Lalley, P. A.; Sakaguchi, A. Y.; Eddy, R. L.; Honey, N. H.; Bell, G. I.; Shen, L.-P.; Rutter, W. J.; Jacobs, J. W.; Heinrich, G.; Chin, W. W.; Naylor, S. L.: Mapping polypeptide hormone genes in the mouse: somatostatin, glucagon, calcitonin, and parathyroid hormone. Cytogenet. Cell Genet. 44: 92-97, 1987.
[0015782]6370.Dillon, J. S.; Tanizawa, Y.; Wheeler, M. B.; Leng, X.-H.; Ligon, B. B.; Rabin, D. U.; Yoo-Warren, H.; Permutt, M. A.; Boyd, A. E., III: Cloning and functional expression of the human glucagon-like peptide-1 (GLP-1) receptor. Endocrinology 133: 1907-1910, 1993.
[0015783]6371.Kershaw, E. E.; Chua, S. C., Jr.; Leibel, R. L.: Localization of a (CA)n repeat in glucagon-like peptide-1 receptor gene (Glp1r) to proximal mouse chromosome 17 and its linkage to other markers. Mammalian Genome 6: 301-303, 1995.
[0015784]6372.Stoffel, M.; Espinosa, R., III; Le Beau, M. M.; Bell, G. I.: Human glucagon-like peptide-1 receptor gene: localization to chromosome band 6p21 by fluorescence in situ hybridization and linkage of a highly polymorphic simple tandem repeat DNA polymorphism to other markers on chromosome 6. Diabetes 42: 1215-1218, 1993.
[0015785]6373.Thorens, B.: Expression cloning of the pancreatic beta cell receptor for the glucoincretin hormone glucagon-like peptide 1. Proc. Nat. Acad. Sci. 89: 8641-8645, 1992.
[0015786]6374.Cohen, P.; Miyazaki, M.; Socci, N. D.; Hagge-Greenberg, A. Liedtke, W.; Soukas, A. A.; Sharma, R.; Hudgins, L. C.; Ntambi, J. M.; Friedman, J. M.: Role for stearoyl-CoA desaturase-1 in leptin-mediated weight loss. Science 297: 240-243, 2002.
[0015787]6375.Coleman, D. L.: Obesity genes: beneficial effects in heterozygous mice. Science 203: 663-665, 1979.
[0015788]6376.Comuzzie, A. G.; Hixson, J. E.; Almasy, L.; Mitchell, B. D.; Mahaney, M. C.; Dyer, T. D.; Stern, M. P.; MacCluer, J. W.; Blangero, J.: A major quantitative trait locus determining serum leptin levels and fat mass is located on human chromosome 2. Nature Genet. 15: 273-276, 1997.
[0015789]6377.Fahsold, R.; Hoffmeyer, S.; Mischung, C.; Gille, C.; Ehlers, C.; Kucukceylan, N.; Abdel-Nour, M.; Gewies, A.; Peters, H.; Kaufmann, D.; Buske, A.; Tinschert, S.; Nurnberg, P.: Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain. Am. J. Hum. Genet. 66: 790-818, 2000.
[0015790]6378.Considine, R. V.; Considine, E. L.; Williams, C. J.; Nyce, M. R.; Magosin, S. A.; Bauer, T. L.; Rosato, E. L.; Colberg, J.; Caro, J. F.: Evidence against either a premature stop codon or the absence of obese gene mRNA in human obesity. J. Clin. Invest. 95: 2986-2988, 1995.
[0015791]6379.Ducy, P.; Amling, M.; Takeda, S.; Priemel, M.; Schilling, A. F.; Beil, F. T.; Shen, J.; Vinson, C.; Rueger, J. M., Karsenty, G.: Leptin inhibits bone formation through a hypothalamic relay: a central control of bone mass. Cell 100: 197-207, 2000.
[0015792]6380.Duggirala, R.; Stern, M. P.; Mitchell, B. D.; Reinhart, L. J.; Shipman, P. A.; Uresandi, O. C.; Chung, W. K.; Leibel, R. L.; Hales, C. N.; O'Connell, P.; Blangero, J.: Quantitative variation in obesity-related traits and insulin precursors linked to the OB gene region on human chromosome 7. Am. J. Hum. Genet. 59: 694-703, 1996.
[0015793]6381.Faggioni, R.; Jones-Carson, J.; Reed, D. A.; Dinarello, C. A.; Feingold, K. R.; Grunfeld, C.; Fantuzzi, G.: Leptin-deficient (ob/ob) mice are protected from T cell-mediated hepatotoxicity: role of tumor necrosis factor alpha and IL-18. Proc. Nat. Acad. Sci. 97: 2367-2372, 2000.
[0015794]6382.Farooqi, I. S.; Jebb, S. A.; Langmack, G.; Lawrence, E.; Cheetham, C. H.; Prentice, A. M.; Hughes, I. A.; McCamish, M. A.; O'Rahilly, S.: Effects of recombinant leptin therapy in a child with congenital leptin deficiency. New Eng. J. Med. 341: 879-884, 1999.
[0015795]6383.Farooqi, I. S.; Keogh, J. M.; Kamath, S.; Jones, S.; Gibson, W. T.; Trussell, R.; Jebb, S. A.; Lip, G. Y. H.; O'Rahilly, S.: Partial leptin deficiency and human adiposity. Nature 414: 34-35, 2001.
[0015796]6384.Forbes, S.; Bui, S.; Robinson, B. R.; Hochgeschwender, U.; Brennan, M. B.: Integrated control of appetite and fat metabolism by the leptin-proopiomelanocortin pathway. Proc. Nat. Acad. Sci. 98: 4233-4237, 2001.
[0015797]6385.Frederich, R. C.; Lollmann, B.; Hamann, A.; Napolitano-Rosen, A.; Kahn, B. B.; Lowell, B. B.; Flier, J. S.: Expression of ob mRNA and its encoded protein in rodents: impact of nutrition and obesity. J. Clin. Invest. 96: 1658-1663, 1995.
[0015798]6386.Friedman, J. M.: Personal Communication. New York, N. Y. 12/2/1994.
[0015799]6387.Friedman, J. M.; Halaas, J. L.: Leptin and the regulation of body weight in mammals. Nature 395: 763-770, 1998.
[0015800]6388.Friedman, J. M.; Leibel, R. L.; Siegel, D. S.; Walsh, J.; Bahary, N.: Molecular mapping of the mouse ob mutation. Genomics 11: 1054-1062, 1991.
[0015801]6389.Geffroy, S.; De Vos, P.; Staels, B.; Duban, B.; Auwerx, J.; de Martinville, B.: Localization of the human OB gene (OBS) to chromosome 7q32 by fluorescence in situ hybridization. Genomics 28: 603-604, 1995.
[0015802]6390.Gloaguen, I.; Costa, P.; Demartis, A.; Lazzaro, D.; Di Marco, A.; Graziani, R.; Paonessa, G.; Chen, F.; Rosenblum, C. I.; Van der Ploeg, L. H. T.; Cortese, R.; Ciliberto, G.; Laufer, R.: Ciliary neurotrophic factor corrects obesity and diabetes associated with leptin deficiency and resistance. Proc. Nat. Acad. Sci. 94: 6456-6461, 1997.
[0015803]6391.Gong, D.-W.; Bi, S.; Pratley, R. E.; Weintraub, B. D.: Genomic structure and promoter analysis of the human obese gene. J. Biol. Chem. 271: 3971-3974, 1996.
[0015804]6392.Green, E. D.; Maffei, M.; Braden, V. V.; Proenca, R.; DeSilva, U.; Zhang, Y.; Chua, S. C., Jr.; Leibel, R. L.; Weissenbach, J.; Friedman, J. M.: The human obese (OB) gene: RNA expression pattern and mapping on the physical, cytogenetic, and genetic maps of chromosome 7. Genome Res. 5: 5-12, 1995.
[0015805]6393.Haffner, S. M.; Miettinen, H.; Karhapaa, P.; Mykkanen, L.; Laakso, M.: Leptin concentrations, sex hormones, and cortisol in nondiabetic men. J. Clin. Endocr. Metab. 82: 1807-1809, 1997.
[0015806]6394.Hager, J.; Francke, S.; Clement, K.; Dina, C.; Basdevant, A.; Guy-Grand, B.; Froguel, P.: A polymorphism in the 5-prime UTR region of the human OB gene is associated with morbid obesity and low leptin levels. (Abstract) Medizinische Genetik 9: 10 only, 1997.
[0015807]6395.Halaas, J. L.; Gajiwala, K. S.; Maffei, M.; Cohen, S. L.; Chait, B. T.; Rabinowitz, D.; Lallone, R. L.; Burley, S. K.; Friedman, J. M.: Weight-reducing effects on the plasma protein encoded by the obese gene. Science 269: 543-546, 1995.
[0015808]6396.Hamilton, B. S.; Paglia, D.; Kwan, A. Y. M.; Deitel, M.: Increased obese mRNA expression in omental fat cells from massively obese humans. Nature Med. 1: 953-956, 1995.
[0015809]6397.Harigaya, A.; Nagashima, K.; Nako, Y.; Morikawa, A.: Relationship between concentration of serum leptin and fetal growth. J. Clin. Endocr. Metab. 82: 3281-3284, 1997.
[0015810]6398.He, Y.; Chen, H.; Quon, M. J.; Reitman, M.: The mouse 'obese' gene: genomic organization, promoter activity, and activation by CCAAT/enhancer-binding protein-alpha. J. Biol. Chem. 270: 28887-28891, 1995.
[0015811]6399.Jabs, E. W.; Coss, C. A.; Hayflick, S. J.; Whitmore, T. E.; Pauli, R. M.; Kirkpatrick, S. J.; Meyers, D. A.; Goldberg, R.; Day, D. W.; Rosenbaum, K. N.: Chromosomal deletion 4p15.32-p14 in a Treacher Collins syndrome patient: exclusion of the disease locus from and mapping of anonymous DNA sequences to this region. Genomics 11: 188-192, 1991.
[0015812]6400.Marsh, K. L.; Dixon, J.; Dixon, M. J.: Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacle. Hum. Molec. Genet. 7: 1795-1800, 1998.
[0015813]6401.Splendore, A.; Silva, E. O.; Alonso, L. G.; Richieri-Costa, A.; Alonso, N.; Rosa, A.; Carakushanky, G.; Cavalcanti, D. P.; Brunoni, D.; Passos-Bueno, M. R.: High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes. Hum. Mutat. 16: 315-322, 2000.
[0015814]6402.Wise, C. A.; Chiang, L. C.; Paznekas, W. A.; Sharma, M.; Musy, M. M.; Ashley, J. A.; Lovett, M.; Jabs, E. W.: TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins syndrome throughout its coding region. Proc. Nat. Acad. Sci. 94: 3110-3115, 1997.
[0015815]6403.Dahms, N. M.; Lobel, P.; Breitmeyer, J.; Chirgwin, J. M.; Kornfeld, S.: 46 kd mannose 6-phosphate receptor: cloning, expression, and homology to the 215 kd mannose 6-phosphate receptor. Cell 50: 181-192, 1987.
[0015816]6404.Ludwig, T.; Ruther, U.; Metzger, R.; Copeland, N. G.; Jenkins, N. A.; Lobel, P.; Hoflack, B.: Gene and pseudogene of the mouse cation-dependent mannose 6-phosphate receptor: genomic organization, expression, and chromosomal localization. J. Biol. Chem. 267: 12211-12219, 1992.
[0015817]6405.Pohlmann, R.; Boeker, M. W. C.; von Figura, K.: The two mannose 6-phosphate receptors transport distinct complements of lysosomal proteins. J. Biol. Chem. 270: 27311-27318, 1995.
[0015818]6406.Pohlmann, R.; Nagel, G.; Schmidt, B.; Stein, M.; Lorkowski, G.; Krentler, C.; Cully, J.; Meyer, H. E.; Grzeschik, K.-H.; Mersmann, G.; Hasilik, A.; von Figura, K.: Cloning of a cDNA encoding the human cation-dependent mannose 6-phosphate-specific receptor. Proc. Nat. Acad. Sci. 84: 5575-5579, 1987.
[0015819]6407.Roberts, D. L.; Weix, D. J.; Dahms, N. M.; Kim, J.-J. P.: Molecular basis of lysosomal enzyme recognition: three-dimensional structure of the cation-dependent mannose 6-phosphate receptor. Cell 93: 639-648, 1998.
[0015820]6408.Watanabe, H.; Grubb, J. H.; Sly, W. S.: The overexpressed human 46-kDa mannose 6-phosphate receptor mediates endocytosis and sorting of beta-glucuronidase. Proc. Nat. Acad. Sci. 87: 8036-8040, 1990.
[0015821]6409.Bax, W. A.; Cluysenaer, O. J. J.; Bartelink, A. K. M.; Aerts, P. C.; Ezekowitz, R. A. B.; van Dijk, H.: Association of familial deficiency of mannose-binding lectin and meningococcal disease. Lancet 354: 1094-1095, 1999.
[0015822]6410.Davies, J.; Neth, O.; Alton, E.; Klein, N.; Turner, M.: Differential binding of mannosebinding lectin to respiratory pathogens in cystic fibrosis. Lancet 355: 1885-1886, 2000.
[0015823]6411.Ezekowitz, R. A.; Day, L. E.; Herman, G. A.: A human mannose-binding protein is an acute phase reactant that shares sequence homology with other vertebrate lectins. J. Exp. Med. 167: 1034-1046, 1988.
[0015824]6412.Gabolde, M.; Hubert, D.; Guilloud-Bataille, M.; Lenaerts, C.; Feingold, J.; Besmond, C.: The mannose binding lectin gene influences the severity of chronic liver disease in cystic fibrosis. J. Med. Genet. 38: 310-311, 2001.
[0015825]6413.Garred, P.; Madsen, H. O.; Balslev, U.; Hofmann, B.; Pedersen, C.; Gerstoft, J.; Svejgaard, A.: Susceptibility to HIV infection and progression of AIDs in relation to variant alleles of mannose-binding lectin. Lancet 349: 236-240, 1997.
[0015826]6414.Garred, P.; Madsen, H. O.; Hofmann, B.; Svejgaard, A.: Increased frequency of homozygosity of abnormal mannan-binding-protein alleles in patients with suspected immunodeficiency. Lancet 346: 941-943, 1995.
[0015827]6415.Garred, P.; Pressler, T.; Madsen, H. O.; Frederiksen, B.; Svejgaard, A.; Hoiby, N.; Schwartz, M.; Koch, C.: Association of mannose-binding lectin gene heterogeneity with severity of lung disease and survival in cystic fibrosis. J. Clin. Invest. 104: 431-437, 1999.
[0015828]6416.Garred, P.; Thiel, S.; Madsen, H. O.; Ryder, L. P.; Jensenius, J. C.; Svejgaard, A.: Gene frequency and partial protein characterization of an allelic variant of mannan binding protein associated with low serum concentrations. Clin. Exp. Immun. 90: 517-521, 1992.
[0015829]6417.Wildin, R. S.; Scott, C. R.: Cbl-G: presentation, treatment, and prolonged followup in a patient with absence of methionine synthase. (Abstract) Am. J. Hum. Genet. 51: A357 only, 1992.
[0015830]6418.Wilson, A.; Leclerc, D.; Saberi, F.; Campeau, E.; Hwang, H. Y.; Shane, B.; Phillips, J. A., III; Rosenblatt, D. S.; Gravel, R. A. : Functionally null mutations in patients with the cblG-variant form of methionine synthase deficiency. Am. J. Hum. Genet. 63: 409-414, 1998.
[0015831]6419.Zhang, Z.-X.; Leclerc, D.; Gravel, R.; Rozen, R.: The methionine synthase (Mtr) gene maps to proximal mouse chromosome 13. Mammalian Genome 8: 787-797, 1997.
[0015832]6420.Watkins, D.; Ru, M.; Hwang, H.-Y.; Kim, C. D.; Murray, A.; Philip, N. S.; Kim, W.; Legakis, H.; Wai, T.; Hilton, J. F.; Ge, B.; Dore, C.; Hosack, A.; Wilson, A.; Gravel, R. A.; Shane, B.; Hudson, T. J.; Rosenblatt, D. S.: Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L. Am. J. Hum. Genet. 71: 143-153, 2002.
[0015833]6421.Spagnol, G.; Williams, M.; Srinivasan, J.; Golier, J.; Bauer, D.; Lebo, R. V.; Latov, N.: Molecular cloning of human myelin-associated glycoprotein. J. Neurosci. Res. 24: 137-142, 1989.
[0015834]6422.Pham-Dinh, D.: Personal Communication. Paris, France 3/15/1994.
[0015835]6423.Pham-Dinh, D.; Gaspera, B. D.; De Rosbo, N. K.; Dautigny, A.: Structure of the human myelin/oligodendrocyte glycoprotein gene and multiple alternative spliced isoforms. Genomics 29: 345-352, 1995.
[0015836]6424.Pham-Dinh, D.; Jones, E. P; Pitiot, G.; Della Gaspera, B.; Daubas, P.; Mallet, J.; Le Paslier, D.; Lindahl, C. F.; Dautigny, A.: Physical mapping of the human and mouse MOG gene at the distal end of the MHC class Ib region. Immunogenetics 42: 386-391, 1995.
[0015837]6425.Pham-Dinh, D.; Mattei, M. G.; Nussbaum, J. L.; Roussel, G.; Pontarotti, P.; Roeckel, N.; Mather, I. H.; Artzt, K.; Lindahl, K. F.; Dautigny, A.: Myelin/oligodendrocyte glycoprotein is a member of a subset of the immunoglobulin superfamily encoded within the major histocompatibility complex. Proc. nat. Acad. Sci. 90: 7990-7994, 1993.
[0015838]6426.Roth, M.-P.; Malfroy, L.; Offer, C.; Sevin, J.; Enault, G.; Borot, N.; Pontarotti, P.; Coppin, H.: The human myelin oligodendrocyte glycoprotein (MOG) gene: complete nucleotide sequence and structural characterization. Genomics 28: 241-250, 1995.
[0015839]6427.Ballmaier, M.; Germeshausen, M.; Schulze, H.; Cherkaoui, K.; Lang, S.; Gaudig, A.; Krukemeier, S.; Eilers, M.; Straub, G.; Welte, K. : c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia. Blood 97: 139-146, 2001.
[0015840]6428.Cwirla, S. E.; Balasubramanian, P.; Duffin, D. J.; Wagstrom, C. R.; Gates, C. M.; Singer, S. C.; Davis, A. M.; Tansik, R. L.; Mattheakis, L. C.; Boytos, C. M.; Schatz, P. J.; Baccanari, D. P.; Wrighton, N. C.; Barrett, R. W.; Dower, W. J.: Peptide agonist of the thrombopoietin receptor as potent as the natural cytokine. Science 276: 1696-1699, 1997.
[0015841]6429.Gurney, A. L.; Carver-Moore, K.; de Sauvage, F. J.; Moore, M. W. : Thrombocytopenia in c-mpl-deficient mice. Science 265: 1445-1447, 1994.
[0015842]6430.Ihara, K.; Ishii, E.; Eguchi, M.; Takada, H.; Suminoe, A.; Good, R. A.; Hara, T.: Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia. Proc. Nat. Acad. Sci. 96: 3132-3136, 1999.
[0015843]6431.Kimura, S.; Roberts, A. W.; Metcalf, D.; Alexander, W. S.: Hematopoietic stem cell deficiencies in mice lacking c-Mpl, the receptor for thrombopoietin. Proc. Nat. Acad. Sci. 95: 1195-1200, 1998.
[0015844]6432.Le Coniat, M.; Souyri, M.; Vigon, I.; Wendling, F.; Tambourin, P.; Berger, R.: The human homolog of the myeloproliferative virus maps to chromosome band 1p34. Hum. Genet. 83: 194-196, 1989.
[0015845]6433.Mignotte, V.; Vigon, I.; Boucher de Crevecoeur, E.; Romeo, P.-H.; Lemarchandel, V.; Chretien, S.: Structure and transcription of the human c-mpl gene (MPL). Genomics 20: 5-12, 1994.
[0015846]6434.Moliterno, A. R.; Hankins, W. D.; Spivak, J. L.: Impaired expression of the thrombopoietin receptor by platelets from patients with polycythemia vera. New Eng. J. Med. 338: 572-580, 1998.
[0015847]6435.Muraoka, K.; Ishii, E.; Tsuji, K.; Yamamoto, S.; Yamaguchi, H.; Hara, T.; Koga, H.; Nakahata, T.; Miyazaki, S.: Defective response to thrombopoietin and impaired expression of c-mpl mRNA of bone marrow cells in congenital amegakaryocytic thrombocytopenia. Brit. J. Haemat. 96: 287-292, 1997.
[0015848]6436.Penciolelli, J. F.; Wendling, F.; Robert-Lezenes, J.; Barque, J. F.; Tambourin, P.; Gisselbrecht, S.: Genetic analysis of myeloproliferative leukemia virus, a novel acute leukemogenic replication-defective retrovirus. J. Virol. 61: 579-583, 1987.
[0015849]6437.Tonelli, R.; Scardovi, A. L.; Pession, A.; Strippoli, P.; Bonsi, L.; Vitale, L.; Prete, A.; Locatelli, F.; Bagnara, G. P.; Paolucci, G.: Compound heterozygosity for two different amino-acid substitution mutations in the thrombopoietin receptor (c-mpl gene) in congenital amegakaryocytic thrombocytopenia (CAMT). Hum. Genet. 107: 225-233, 2000.
[0015850]6438.van den Oudenrijn, S.; Bruin, M.; Folman, C. C.; Peters, M.; Faulkner, L. B.; de Haas, M.; van dem Borne, A. E. G. K.: Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopenia. Brit. J. Haemat. 110: 441-448, 2000.
[0015851]6439.Vigon, I.; Mornon, J.-P.; Cocault, L.; Mitjavila, M.-T.; Tambourin, P.; Gisselbrecht, S.; Souyri, M.: Molecular cloning and characterization of MPL, the human homolog of the v-mpl oncogene: identification of a member of the hematopoietic growth factor receptor superfamily. Proc. Nat. Acad. Sci. 89: 5640-5644, 1992.
[0015852]6440.Bamberger, A.-M.; Jenatschke, S.; Schulte, H. M.; Loning, T.; Bamberger, C. M.: Leukemia inhibitory factor (LIF) stimulates the human HLA-G promoter in JEG3 choriocarcinoma cells. J. Clin. Endocr. Metab. 85: 3932-3936, 2000.
[0015853]6441.Barasch, J.; Yang, J.; Ware, C. B.; Taga, T.; Yoshida, K.; Erdjument-Bromage, H.; Tempst, P.; Parravicini, E.; Malach, S.; Aranoff, T.; Oliver, J. A.: Mesenchymal to epithelial conversion in rat metanephros is induced by LIF. Cell 99: 377-386, 1999.
[0015854]6442.Bucan, M.; Gatalica, B.; Nolan, P.; Chung, A.; Leroux, A.; Grossman, M. H.; Nadeau, J. H.; Emanuel, B. S.; Budarf, M.: Comparative mapping of 9 human chromosome 22q loci in the laboratory mouse. Hum. Molec. Genet. 2: 1245-1252, 1993.
[0015855]6443.Budarf, M.; Emanuel, B. S.; Mohandas, T.; Goeddel, D. V.; Lowe, D. G.: Human differentiation-stimulating factor (leukemia inhibitory factor, human interleukin DA) gene maps distal to the Ewing sarcoma breakpoint on 22q. Cytogenet. Cell Genet. 52: 19-22, 1989.
[0015856]6444.Doolittle, D.: Personal Communication. Bar Harbor, Me. 3/10/1992.
[0015857]6445.Giovannini, M.; Djabali, M.; McElligott, D.; Selleri, L.; Evans, G. A.: Tandem linkage of genes coding for leukemia inhibitory factor (LIF) and oncostatin M (OSM) on human chromosome 22. Cytogenet. Cell Genet. 64: 240-244, 1993.
[0015858]6446.Gough, N. M.; Gearing, D. P.; King, J. A.; Willson, T. A.; Hilton, D. J.; Nicola, N. A.; Metcalf, D.: Molecular cloning and expression of the human homologue of the murine gene encoding myeloid leukemia-inhibitory factor. Proc. Nat. Acad. Sci. 85: 2623-2627, 1988.
[0015859]6447.Hanauer, A.; Mattei, M. G.; Mandel, J. L.: Presence of a TaqI polymorphism in the human glutamate dehydrogenase (GLUD) gene on chromosome 10. Nucleic Acids Res. 15: 6308 only, 1987.
[0015860]6448.Fain, P. R.; Goldgar, D. E.; Wright, E. C.; Andersen, W. L.; Willard, H. F.; van Tuinen, P.; Ledbetter, D. H.; Barker, D. F.: Markers tightly linked to the NF1 locus on chromosome 17. (Abstract) Cytogenet. Cell Genet. 51: 996, 1989.
[0015861]6449.Fain, P. R.; Wright, E.; Willard, H. F.; Stephens, K.; Barker, D. F.: The order of loci in the pericentric region of chromosome 17, based on evidence from physical and genetic breakpoints. Am. J. Hum. Genet. 44: 68-72, 1989.
[0015862]6450.Fanconi, G.: Hochgradige Galaktose-intoleranz (Galaktose-Diabetes) bei einem Kinde mit Neurofibromatosis Recklinghausen. Jahrb. Kinderheilk. 138: 1-8, 1933.
[0015863]6451.Faravelli, F.; Upadhyaya, M.; Osborn, M.; Huson, S. M.; Hayward, R.; Winter, R.: Unusual clustering of brain tumours in a family with NF1 and variable expression of cutaneous features. J. Med. Genet. 36: 893-896, 1999.
[0015864]6452.Fialkow, P. J.; Sagebiel, R. W.; Gartler, S. M.; Rimoin, D. L. : Multiple cell origin of hereditary neurofibromas. New Eng. J. Med. 284: 298-300, 1971.
[0015865]6453.Fienman, N. L.; Yakovac, W. C.: Neurofibromatosis in childhood. J. Pediat. 76: 339-346, 1970.
[0015866]6454.Finley, J. L.; Dabbs, D. J.: Renal vascular smooth muscle proliferation in neurofibromatosis. Hum. Path. 19: 107-110, 1988.
[0015867]6455.Fitzpatrick, A. P.; Emanuel, R. W.: Familial neurofibromatosis and hypertrophic cardiomyopathy. Brit. Heart J. 60: 247-251, 1988.
[0015868]6456.Fountain, J. W.; Wallace, M. R.; Brereton, A. M.; O'Connell, P.; White, R. L.; Rich, D. C.; Ledbetter, D. H.; Leach, R. J.; Fournier, R. E. K.; Menon, A. G.; Gusella, J. F.; Barker, D.; Stephens, K.; Collins, F. S.: Physical mapping of the von Recklinghausen neurofibromatosis region on chromosome 17. Am. J. Hum. Genet. 44: 58-67, 1989.
[0015869]6457.Fountain, J. W.; Wallace, M. R.; Bruce, M. A.; Seizinger, B. R.; Menon, A. G.; Gusella, J. F.; Michels, V. V.: Schmidt, M. A.; Dewald, G. W. and Collins, F. S.: Physical mapping of a translocation breakpoint in neurofibromatosis. Science 244: 1085-1087, 1989.
[0015870]6458.Friedman, J. M.; Birch, P.; Greene, C.; NNFF International Database Participants: National Neurofibromatosis Foundation International Database. Am. J. Med. Genet. 45: 88-91, 1993.
[0015871]6459.Friedman, J. M.; Birch, P. H.: Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients. Am. J. Med. Genet. 70: 138-143, 1997.
[0015872]6460.Friedman, J. M.; Fialkow, P. J.; Greene, G. L.; Weinberg, M. N. : Probable clonal origin of neurofibrosarcoma in a patient with hereditary neurofibromatosis. J. Nat. Cancer Inst. 69: 1289-1292, 1982.
[0015873]6461.Garty, B. Z.; Laor, A.; Danon, Y. L.: Neurofibromatosis type 1 in Israel: survey of young adults. J. Med. Genet. 31: 853-857, 1994.
[0015874]6462.Gervasini, C.; Bentivegna, A.; Venturin, M.; Corrado, L.; Larizza, L.; Riva, P.: Tandem duplication of the NF1 gene detected by high-resolution FISH in the 17q11.2 region. Hum. Genet. 110: 314-321, 2002.
[0015875]6463.Gitzelmann, R.: Deficiency of erythrocyte galactokinase in a patient with galactose diabetes. Lancet II: 670-671, 1965.
[0015876]6464.Goldgar, D. E.; Green, P.; Parry, D. M.; Mulvihill, J. J.: Multipoint linkage analysis in neurofibromatosis type 1: an international collaboration. Am. J. Hum. Genet. 44: 6-12, 1989.
[0015877]6465.Graham, P. W.; Oehlschlaeger, F. H.: Articulating the Elephant Man: Joseph Merrick and His Interpreters. Baltimore: Johns Hopkins Univ. Press (pub.) 1992.
[0015878]6466.Grant, W. M.; Walton, D. S.: Distinctive gonioscopic findings in glaucoma due to neurofibromatosis. Arch. Ophthal. 79: 127-134, 1968.
[0015879]6467.Griffiths, D. F. R.; Williams, G. T.; Williams, E. D.: Duodenal carcinoid tumours, phaeochromocytoma and neurofibromatosis: islet cell tumour, phaeochromocytoma and the von Hippel-Lindau complex: two distinctive neuroendocrine syndromes. Quart. J. Med. 245: 769-782, 1987.
[0015880]6468.Guo, H.-F.; The, I.; Hannan, F.; Bernards, A.; Zhong, Y.: Requirement of Drosophila NF1 for activation of adenylyl cyclase by PACAP38-like neuropeptides. Science 276: 795-798, 1997.
[0015881]6469.Gusella, J. F.: Personal Communication. Boston, Mass. 9/12/1987.
[0015882]6470.Gutmann, D.; Aylsworth, A.; Carley, J.; Korf, B.; Marks, J.; Pyeritz, R.; Rubenstein, A.; et al.: The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. J.A.M.A. 278: 51-57, 1997.
[0015883]6471.Gutmann, D. H.: The neurofibromatoses: when less is more. Hum Molec. Genet. 10: 747-755, 2001.
[0015884]6472.Gutmann, D. H.; Loehr, A.; Zhang, Y.; Kim, J.; Henkemeyer, M.; Cashen, A.: Haploinsufficiency for the neurofibromatosis 1 (NF1) tumor supressor results in increased astrocyte proliferation. Oncogene 18: 4450-4459, 1999.
[0015885]6473.Gutmann, D. H.; Wood, D. L.; Collins, F. S.: Identification of the neurofibromatosis type 1 gene product. Proc. Nat. Acad. Sci. 88: 9658-9662, 1991. 100. Gutmann, D. H.; Wu, Y. L.; Hedrick, N. M.; Zhu, Y.; Guha, A.; Parada, L. F.: Heterozygosity for the neurofibromatosis 1 (NF1) tumor suppressor results in abnormalities in cell attachment, spreading and motility in astrocytes. Hum. Molec. Genet. 10: 3009-3016, 2001. 101. Gutzmer, R.; Herbst, R. A.; Mommert, S.; Kiehl, P.; Matiaske, F.; Rutten, A.; Kapp, A.; Weiss, J.: Allelic loss at the neurofibromatosis type 1 (NF1) gene locus is frequent in desmoplastic neurotropic melanoma. Hum. Genet. 107: 357-361, 2000. 102. Hamilton, S. J.; Allard, M. F.; Friedman, J. M.: Cardiac findings in an individual with neurofibromatosis 1 and sudden death. Am. J. Med. Genet. 100: 95-99, 2001. 103. Hamilton, S. J.; Friedman, J. M.: Insights into the pathogenesis of neurofibromatosis 1 vasculopathy. Clin. Genet. 58: 341-344, 2000. 104. Hashemian, H.: Familial fibromatosis of small intestine. Brit. J. Surg. 40: 346-350, 1953. 105. Hayes, D. M.; Spurr, C. L.; Felts, J. H.; Miller, E. C., Jr. : Von Recklinghausen's disease with massive intra-abdominal tumor and spontaneous hypoglycemia: metabolic studies before and after perfusion of abdominal cavity with nitrogen mustard. Metabolism 10: 183-199, 1961. 106. Heim, R. A.; Kam-Morgan, L. N. W.; Binnie, C. G.; Corns, D. D.; Cayouette, M. C.; Farber, R. A.; Aylsworth, A. S.; Silverman, L. M.; Luce, M. C.: Distribution of 13 truncating mutations in the neurofibromatosis 1 gene. Hum. Molec. Genet. 4: 975-981, 1995. 107. Heim, R. A.; Silverman, L. M.; Farber, R. A.; Kam-Morgan, L. N. W.; Luce, M. C.: Screening for truncated NF1 proteins. (Letter) Nature Genet. 8: 218-219, 1994. 108. Herrmann, J.: Sarcomatous transformation in multiple neurofibromatosis (von Recklinghausen's disease). Ann. Surg. 131: 206-217, 1950. 109. Hinrichs, S. H.; Nerenberg, M.; Reynolds, R. K.; Khoury, G.; Jay, G.: A transgenic mouse model for human neurofibromatosis. Science 237: 1340-1343, 1987. 110. Hochberg, F. H.; DaSilva, A. B.; Galdabini, J.; Richardson, E. P., Jr.: Gastrointestinal involvement in von Recklinghausen's neurofibromatosis. Neurology 24: 1144-1151, 1974. 111. Hoffmeyer, S.; Nurnberg, P.; Ritter, H.; Fahsold, R.; Leistner, W.; Kaufmann, D.; Krone, W.: Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors. Am. J. Hum. Genet. 62: 269-277, 1998. 112. Hofman, K. J.; Harris, E. L.; Bryan, R. N.; Denckla, M. B.: Neurofibromatosis type 1: the cognitive phenotype. J. Pediat. 124: S1-S8, 1994. 113. Holt, J. F.: Neurofibromatosis in children. Am. J. Roentgen. 130: 615-639, 1978. 114. Horiuchi, T.; Hatta, N.; Matsumoto, M.; Ohtsuka, H.; Collins, F. S.; Kobayashi, Y.; Fujita, S.: Nonsense mutations at arg-1947 in two cases of familial neurofibromatosis type 1 in Japanese. Hum. Genet. 93: 81-83, 1994. 115. Horwich, A.; Riccardi, V. M.; Francke, U.: Aqueductal stenosis leading to hydrocephalus--an unusual manifestation of neurofibromatosis. Am. J. Med. Genet. 14: 577-581, 1983. 116. Howell, M.; Ford, P.: The True History of the Elephant Man. New York: Penguin (pub.) 1980. 117. Hull, J.; Shackleton, S.; Harris, A.: The stop mutation R553X in the CFTR gene results in exon skipping. Genomics 19: 362-364, 1994. 118. Hunerbein, M.; Dohmoto, M.; Haensch, W.; Schlag, P. M.: Biliary obstruction caused by a multifocal duodenal neurosarcoma in a patient with von Recklinghausen's disease. Encoscopy 28: 405 only, 1996. 119. Huson, S. M.; Compston, D. A. S.; Clark, P.; Harper, P. S.: A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity. J. Med. Genet. 26: 704-711, 1989. 120. Huson, S. M.; Hughes, R. A. C.: The Neurofibromatoses: a Pathogenetic and Clinical Overview. London: Chapman and Hall Medical , 1994. 121. Huson, S. M.; Meredith, A. L.; Sarfarazi, M.; Shaw, D. J.; Compston, D. A. S.; Harper, P. S.: Linkage analysis of peripheral neurofibromatosis (Von Recklinghausen disease) and chromosome 19 markers linked to myotonic dystrophy. J. Med. Genet. 23: 55-57, 1986. 122. Ingordo, V.; D'Andria, G.; Mendecini, S.; Grecucci, M.; Baglivo, A.: Segmental neurofibromatosis: is it uncommon or underdiagnosed? Arch. Derm. 131: 959-960, 1995. 123. Ingram, D. A.; Yang, F.-C.; Travers, J. B.; Wenning, M. J.; Hiatt, K.; New, S.; Hood, A.; Shannon, K.; Williams, D. A.; Clapp, D. W. : Genetic and biochemical evidence that haploinsufficiency of the Nf1 tumor suppressor gene modulates melanocyte and mast cell fates in vivo. J. Exp. Med. 191: 181-187, 2000. 124. Izumi, A. K.; Rosato, F. E.; Wood, M. G.: Von Recklinghausen's disease associated with multiple neurolemmomas. Arch. Derm. 104: 172-176, 1971. 125. Jadayel, D.; Fain, P.; Upadhyaya, M.; Ponder, M. A.; Huson, S. M.; Carey, J.; Fryer, A.; Mathew, C. G. P.; Barker, D. F.; Ponder, B. A. J.: Paternal origin of new mutations in Von Recklinghausen neurofibromatosis. Nature 343: 558-559, 1990. 126. Jenne, D. E.; Tinschert, S.; Reimann, H.; Lasinger, W.; Thiel, G.; Hameister, H.; Kehrer-Sawatzki, H.: Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions. Am. J. Hum. Genet. 69: 516-527, 2001. 127. John, A. M.; Ruggieri, M.; Ferner, R.; Upadhyaya, M.: A search for evidence of somatic mutations in the NF1 gene. J. Med. Genet. 37: 44-49, 2000. 128. Johnson, B. L.; Charneco, D. R.: Cafe-au-lait spot in neurofibromatosis and in normal individuals. Arch. Derm. 102: 442-446, 1970. 129. Johnson, M. R.; Look, A. T.; DeClue, J. E.; Valentine, M. B.; Lowy, D. R.: Inactivation of the NF1 gene in human melanoma and neuroblastoma cell lines without impaired regulation of GTP-Ras. Proc. Nat. Acad. Sci. 90: 5539-5543, 1993. 130. Kalff, V.; Shapiro, B.; Lloyd, R.; Sisson, J. C.; Holland, K.; Nakajo, M.; Beierwaltes, W. H.: The spectrum of pheochromocytoma in hypertensive patients with neurofibromatosis. Arch. Intern. Med. 142: 2092-2098, 1982. 131. Kaneko, Y.; Maseki, N.; Sakurai, M.; Shibuya, A.; Shinohara, T.; Fujimoto, T.; Kanno, H.; Nishikawa, A.: Chromosome pattern in juvenile chronic myelogenous leukemia, myelodysplastic syndrome, and acute leukemia associated with neurofibromatosis. Leukemia 3: 36-41, 1989. 132. Kanter, W. R.; Eldridge, R.; Fabricant, R.; Allen, J. C.; Koerber, T.: Central neurofibromatosis with bilateral acoustic neuroma: genetic, clinical and biochemical distinctions from peripheral neurofibromatosis. Neurology 30: 851-859, 1980. 133. Kaplan, J.; Cushing, B.; Chang, C.-H.; Poland, R.; Roscamp, J.; Perrin, E.; Bhaya, N.: Familial T-cell lymphoblastic lymphoma: association with von Recklinghausen neurofibromatosis and Gardner syndrome. Am. J. Hemat. 12: 247-250, 1982. 134. Kaufmann, D.; Muller, R.; Bartelt, B.; Wolf, M.; Kunzi-Rapp, K.; Hanemann, C. O.; Fahsold, R.; Hein, C.; Vogel, W.; Assum, G.: Spinal neurofibromatosis without cafe-au-lait macules in two families with null mutations of the NF1 gene. Am. J. Hum. Genet. 69: 1395-1400, 2001. 135. Kayes, L. M.; Burke, W.; Riccardi, V. M.; Bennett, R.; Ehrlich, P.; Rubenstein, A.; Stephens, K.: Deletions spanning the neurofibromatosis I gene: identification and phenotype of five patients. Am. J. Hum. Genet. 54: 424-436, 1994. 136. King, A. A.; DeBaun, M. R.; Riccardi, V. M.; Gutmann, D. H.: Malignant peripheral nerve sheath tumors in neurofibromatosis 1. Am. J. Med. Genet. 93: 388-392, 2000. 137. Kittur, S. D.; Bagdon, M. M.; Lubs, M. L.; Phillips, J. A., III; Murray, J. C.; Slaugenhaupt, S. A.; Chakravarti, A.; Adler, W. H. : Linkage analysis of neurofibromatosis type 1, using chromosome 17 DNA markers. Am. J. Hum. Genet. 44: 48-50, 1989. 138. Klose, A.; Ahmadian, M. R.; Schuelke, M.; Scheffzek, K.; Hoffmeyer, S.; Gewies, A.; Schmitz, F.; Kaufmann, D.; Peters, H.; Wittinghofer, A.; Nurnberg, P.: Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1 (NF1). Hum. Molec. Genet. 7: 1261-1268, 1998. 139. Kluwe, L.; Friedrich, R. E.; Mautner, V. F.: Allelic loss of the NF1 gene in NF1-associated plexiform neurofibromas. Cancer Genet. Cytogenet. 113: 65-69, 1999. 140. Knight, W. A., III; Murphy, W. K.; Gottlieb, J. A.: Neurofibromatosis associated with malignant neurofibromas. Arch. Derm. 107: 747-750, 1973. 141. Kohn, S. R.: The elephant man. (Letter) New Eng. J. Med. 301: 947, 1979. 142. Koivunen, J.; Yla-Outinen, H.; Korkiamaki, T.; Karvonen, S.-L.; Poyhonen, M.; Laato, M.; Karvonen, J.; Peltonen, S.; Peltonen, J. : New function for NF1 tumor suppressor. J. Invest. Derm. 114: 473-479, 2000. 143. Konishi, K.; Nakamura, M.; Yamakawa, H.; Suzuki, H.; Saruta, T.; Hanaoka, H.; Davatchi, F.: Case report: hypophosphatemic osteomalacia in von Recklinghausen neurofibromatosis. Am. J. Med. Sci. 301: 322-328, 1991. 144. Korenberg, J. R.; Barker, D.; Fain, P.; Graham, J. M.; Pribyl, T.; Pulst, S.-M.: Achondroplasia is not tightly linked to the locus for neurofibromatosis 1. (Abstract) Cytogenet. Cell Genet. 51: 1025, 1989. 145. Kousseff, B. G.; Gilbert-Barness, E. F.: 'Vascular neurofibromatosis' and infantile gangrene. Am. J. Med. Genet. 34: 221-226, 1989. 146. Krone, W.; Hogemann, I.: Cell culture studies on neurofibromatosis (von Recklinghausen): V. Monosomy 22 and other chromosomal anomalies in cultures from peripheral neurofibromas. Hum. Genet. 74: 453-455, 1986. 147. Kurotaki, H.; Kamata, Y.; Kimura, M.; Nagai, K.: Multiple papillary adenomas of type II pneumocytes found in a 13-year-old boy with von Recklinghausen's disease. Virchows Arch. A 423: 319-322, 1993. 148. Lazaro, C.; Kruyer, H.; Gaona, A.; Estivill, X.: Two further cases of mutation R1947X in the NF1 gene: screening for a relatively common recurrent mutation. Hum. Genet. 96: 361-363, 1995. 149. Lazaro, C.; Ravella, A.; Gaona, A.; Volpini, V.; Estivill, X. : Neurofibromatosis type 1 due to germ-line mosaicism in a clinically normal father. New Eng. J. Med. 331: 1403-1407, 1994. 150. Ledbetter, D. H.; Rich, D. C.; O'Connell, P.; Leppert, M.; Carey, J. C.: Precise localization of NF1 to 17q11.2 by balanced translocation. Am. J. Hum. Genet. 44: 20-24, 1989. 151. Legius, E.; Descheemaeker, M.-J.; Spaepen, A.; Casaer, P.; Fryns, J.-P.: Neuropsychological profile in children with NF1. (Abstract) Genet. Counsel. 5: 213-214, 1994. 152. Legius, E.; Descheemaeker, M. J.; Steyaert, J.; Spaepen, A.; Vlietinck, R.; Casaer, P.; Demaerel, P.; Fryns, J. P.: Neurofibromatosis type 1 in childhood: correlation of MRI findings with intelligence. J. Neurol. Neurosurg. Psychiat. 59: 638-640, 1995. 153. Legius, E.; Marchuk, D. A.; Collins, F. S.; Glover, T. W.: Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis. Nature Genet. 3: 122-125, 1993. 154. Legius, E.; Marchuk, D. A.; Hall, B. K.; Andersen, L. B.; Wallace, M. R.; Collins, F. S.; Glover, T. W.: NF1-related locus on chromosome 15. Genomics 13: 1316-1318, 1992. 155. Lehrnbecher, T.; Gassel, A. M.; Rauh, V.; Kirchner, T.; Huppertz, H.-I.: Neurofibromatosis presenting as a severe systemic vasculopathy. Europ. J. Pediat. 153: 107-109, 1994. 156. Leppig, K. A.; Viskochil, D.; Neil, S.; Rubenstein, A.; Johnson, V. P.; Zhu, X. L.; Brothman, A. R.; Stephens, K.: The detection of contiguous gene deletions at the neurofibromatosis 1 locus with fluorescence in situ hybridization. Cytogenet. Cell Genet. 72: 95-98, 1996. 157. Li, Y.; Bollag, G.; Clark, R.; Stevens, J.; Conroy, L.; Fults, D.; Ward, K.; Friedman, E.; Samowitz, W.; Robertson, M.; Bradley, P.; McCormick, F.; White, R.; Cawthon, R.: Somatic mutations in the neurofibromatosis 1 gene in human tumors. Cell 69: 275-281, 1992. 158. Li, Y.; O'Connell, P.; Huntsman Breidenbach, H.; Cawthon, R.; Stevens, J.; Xu, G.; Neil, S.; Robertson, M.; White, R.; Viskochil, D.: Genomic organization of the neurofibromatosis 1 gene (NF1). Genomics 25: 9-18, 1995. 159. Lin, A. E.; Birch, P. H.; Korf, B. R.; Tenconi, R.; Niimura, M.; Poyhonen, M.; Uhas, K. A.; Sigorini, M.; Virdis, R.; Romano, C.; Bonioli, E.; Wolkenstein, P.; Pivnick. E. K.; Lawrence, M.; Friedman, J. M.; NNFF International Database Participants: Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1. Am. J. Med. Genet. 95: 108-117, 2000. 160. Lisch, K.: Ueber Beteiligung der Augen, insbesondere das Vorkommen von Irisknotchen bei der Neurofibromatose (Recklinghausen). Augenheilkunde 93: 137-143, 1937. 161. Listernick, R.; Charrow, J.; Greenwald, M.; Mets, M.: Natural history of optic pathway tumors in children with neurofibromatosis type 1: a longitudinal study. J. Pediat. 125: 63-66, 1994. 162. Listernick, R.; Darling, C.; Greenwald, M.; Strauss, L.; Charrow, J.: Optic pathway tumors in children: the effect of neurofibromatosis type 1 on clinical manifestations and natural history. J. Pediat. 127: 718-722, 1995. 163. Littler, M.; Morton, N. E.: Segregation analysis of peripheral neurofibromatosis (NF1). J. Med. Genet. 27: 307-310, 1990. 164. Lopez-Correa, C.; Dorschner, M.; Brems, H.; Lazaro, C.; Clementi, M.; Upadhyaya, M.; Dooijes, D.; Moog, U.; Kehrer-Sawatzki, H.; Rutkowski, J. L.; Fryns, J.-P.; Marynen, P.; Stephens, K.; Legius, E.: Recombination hotspot in NF1 microdeletion patients. Hum. Molec. Genet. 10: 1387-1392, 2001. 165. Luijten, M.; Redeker, S.; Minoshima, S.; Shimizu, N.; Westerveld, A.; Hulsebos, T. J. M.: Duplication and transposition of the NF1 pseudogene regions on chromosomes 2, 14, and 22. Hum. Genet. 109: 109-116, 2001. 166. Lund, A. M.; Skovby, F.: Optic gliomas in children with neurofibromatosis type 1. Europ. J. Pediat. 150: 835-838, 1991. 167. Manley, K. A.; Skyring, A. P.: Some heritable causes of gastrointestinal disease: special reference to hemorrhage. Arch. Intern. Med. 107: 182-203, 1961. 168. Marchuk, D. A.; Saulino, A. M.; Tavakkol, R.; Swaroop, M.; Wallace, M. R.; Andersen, L. B.; Mitchell, A. L.; Gutmann, D. H.; Boguski, M.; Collins, F. S.: cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product. Genomics 11: 931-940, 1991. 169. Massaro, D.; Katz, S.: Fibrosing alveolitis: its occurrence, roentgenographic, and pathologic features in von Recklinghausen's neurofibromatosis. Am. Rev. Resp. Dis. 93: 934-942, 1966. 170. Mathew, C. G. P.; Thorpe, K.; Easton, D. F.; Chin, K. S.; Jadayel, D.; Ponder, M.; Moore, G.; Wallis, C. E.; Slater, C. P.; De Jong, G.; O'Connell, P.; White, R.; Barker, D.; Ponder, B. A. J.: Linkage analysis of chromosome 17 markers in British and South African families with neurofibromatosis type 1. Am. J. Hum. Genet. 44: 38-40, 1989. 171. Maynard, J.; Krawczak, M.; Upadhyaya, M.: Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene. Hum. Genet. 99: 674-676, 1997. 172. McGaughran, J. M.; Harris, D. I.; Donnai, D.; Teare, D.; MacLeod, R.; Westerbeek, R.; Kingston, H.; Super, M.; Harris, R.; Evans, D. G. R.: A clinical study of type I neurofibromatosis in north west England. J. Med. Genet. 36: 197-203, 1999. 173. Menon, A. G.; Anderson, K. M.; Riccardi, V. M.; Chung, R. Y.; Whaley, J. M.; Yandell, D. W.; Farmer, G. E.; Freiman, R. N.; Lee, J. K.; Li, F. P.; Barker, D. F.; Ledbetter, D. H.; Kleider, A.; Martuza, R. L.; Gusella, J. F.; Seizinger, B. R.: Chromosome 17p deletions and p53 gene mutations associated with the formation of malignant neurofibrosarcomas in von Recklinghausen neurofibromatosis. Proc. Nat. Acad. Sci. 87: 5435-5439, 1990. 174. Menon, A. G.; Ledbetter, D. H.; Rich, D. C.; Seizinger, B. R.; Rouleau, G. A.; Michels, V. F.; Schmidt, M. A.; Dewald, G.; DallaTorre, C. M.; Haines, J. L.; Gusella, J. F.: Characterization of a translocation within the von Recklinghausen neurofibromatosis region of chromosome 17. Genomics 5: 245-249, 1989. 175. Messiaen, L. M.; Callens, T.; Mortier, G.; Beysen, D.; Vandenbroucke, I.; Van Roy, N.; Speleman, F.; De Paepe, A.: Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. Hum. Mutat. 15: 541-555, 2000. 176. Messiaen, L. M.; Callens, T.; Roux, K. J.; Mortier, G. R.; De Paepe, A.; Abramowicz, M.; Pericak-Vance, M. A.; Vance, J. M.; Wallace, M. R.: Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing. Genet. Med. 1: 248-253, 1999. 177. Miles, J.; Pennybacker, J.; Sheldon, P.: Intrathoracic meningocele. Its development and association with neurofibromatosis. J. Neurol. Neurosurg. Psychiat. 32: 99-110, 1969. 178. Miller, M.; Hall, J. G.: Possible maternal effect of severity of neurofibromatosis. Lancet II: 1071-1073, 1978. 179. Miller, M. E.; Hall, J. G.: Maternal effect in neurofibromatosis. (Abstract) Am. J. Hum. Genet. 30: 60A, 1978. 180. Miller, R. M.; Sparkes, R. S.: Segmental neurofibromatosis. Arch. Derm. 113: 837-838, 1977. 181. Molloy, P. T.; Bilaniuk, L. T.; Vaughan, S. N.; Needle, M. N.; Liu, G. T.; Zackai, E. H.; Phillips, P. C.: Brainstem tumors in patients with neurofibromatosis type 1: a distinct clinical entity. Neurology 45: 1897-1902, 1995. 182. Mukhopadhyay, D.; Anant, S.; Lee, R. M.; Kennedy, S.; Viskochil, D.; Davidson, N. O.: C-U editing of neurofibromatosis 1 mRNA occurs in tumors that express both the type II transcript and apobec-1, the catalytic subunit of the apolipoprotein B mRNA-editing enzyme. Am. J. Hum. Genet. 70: 38-50, 2002. 183. Mukonoweshuro, W.; Griffiths, P. D.; Blaser, S.: Neurofibromatosis type 1: the role of neuroradiology. Neuropediatrics 30: 111-119, 1999. 184. Muller-Wiefel, D. E.: Renovaskulare Hypertension bei Neurofibromatose von Recklinghausen. Mschr. Kinderheilk. 126: 113-118, 1978. 185. Nager, G. T.: Association of bilateral VIIIth nerve tumors with meningiomas in von Recklinghausen's disease. Laryngoscope 74: 1220-1261, 1964. 186. Nakafuku, M.; Nagamine, M.; Ohtoshi, A.; Tanaka, K.; Toh-e, A.; Kaziro, Y.: Suppression of oncogenic Ras by mutant neurofibromatosis type 1 genes with single amino acid substitutions. Proc. Nat. Acad. Sci. 90: 6706-6710, 1993. 187. National Institutes of Health Consensus Development Conference : Neurofibromatosis: conference statement. Arch. Neurol. 45: 575-578, 1988. 188. Newman, A.; So, S. K.: Bilateral neurofibroma of the intrathoracic vagus associated with von Recklinghausen's disease. Am. J. Roentgen. 112: 389-392, 1971. 189. Nicolls, E. M.: Somatic variation and multiple neurofibromatosis. Hum. Hered. 19: 473-479, 1969. 190. Nopajaroonsri, C.; Lurie, A. A.: Venous aneurysm, arterial dysplasia, and nearfatal hemorrhages in neurofibromatosis type 1. Hum. Path. 27: 982-985, 1996. 191. O'Connell, P.; Leach, R.; Cawthon, R. M.; Culver, M.; Stevens, J.; Viskochil, D.; Fournier, R. E. K.; Rich, D. C.; Ledbetter, D. H.; White, R.: Two NF1 translocations map within a 600-kilobase segment of 17q11.2. Science 244: 1087-1088, 1989. 192. O'Connell, P.; Leach, R. J.; Ledbetter, D. H.; Cawthon, R. M.; Culver, M.; Eldridge, J. R.; Frej, A.-K.; Holm, T. R.; Wolff, E.; Thayer, M. J.; Schafer, A. J.; Fountain, J. W.; Wallace, M. R.; Collins, F. S.; Skolnick, M. H.; Rich, D. C.; Fournier, R. E. K.; Baty, B. J.; Carey, J. C.; Leppert, M. F.; Lathrop, G. M.; Lalouel, J.-M.; White, R.: Fine structure DNA mapping studies of the chromosomal region harboring the genetic defect in neurofibromatosis type 1. Am. J. Hum. Genet. 44: 51-57, 1989. 193. Obringer, A. C.; Meadows, A. T.; Zackai, E. H.: The diagnosis of neurofibromatosis-1 in the child under the age of 6 years. Am. J. Dis. Child. 143: 717-719, 1989. 194. Osborn, M. J.; Upadhyaya, M.: Evaluation of the protein truncation test and mutation detection in the NF1 gene: mutational analysis of 15 known and 40 unknown mutations. Hum. Genet. 105: 327-332, 1999. 195. Otsuka, F.; Kawashima, T.; Imakado, S.; Usuki, Y.; Hon-mura, S.: Lisch nodules and skin manifestation in neurofibromatosis type 1. Arch. Derm. 137: 232-233, 2001. 196. Parazzini, C.; Triulzi, F.; Bianchini, E.; Agnetti, V.; Conti, M.; Zanolini, C.; Maninetti, M. M.; Rossi, L. N.; Scotti, G.: Spontaneous involution of optic pathway lesions in neurofibromatosis type 1: serial contrast MR evaluation. Am. J. Neuroradiol. 16: 1711-1718, 1995. 197. Park, K. C.; Choi, H. O.; Park, K. H.; Kim, K. H.; Eun, H. C. : A nonsense mutation at arg-1947 in the NF1 gene in a case of neurofibromatosis type 1 in a Korean patient. J. Hum. Genet. 45: 84-85, 2000. 198. Park, V. M.; Pivnick, E. K.: Neurofibromatosis type 1 (NF1): a protein truncation assay yielding identification of mutations in 73% of patients. J. Med. Genet. 35: 813-820, 1998. 199. Parsa, C. F.; Hoyt, C. S.; Lesser, R. L.; Weinstein, J. M.; Strother, C. M.; Muci-Mendoza, R.; Ramella, M.; Manor, R. S.; Fletcher, W. A.; Repka, M. X.; Garrity, J. A.; Ebner, R. N.; Monteiro, M. L. R.; McFadzean, R. M.; Rubtsova, I. V.; Hoyt, W. F.: Spontaneous regression of optic gliomas: thirteen cases documented by serial neuroimaging. Arch. Ophthal. 119: 516-529, 2001. 200. Pellock, J. M.; Kleinman, P. K.; McDonald, B. M.; Wixson, D. : Childhood hypertensive stroke with neurofibromatosis. Neurology 30: 656-659, 1980. 201. Perry, H. D.; Font, R. L.: Iris nodules in von Recklinghausen's neurofibromatosis: electron microscopic confirmation of their melanocytic origin. Arch. Ophthal. 100: 1635-1640, 1982. 202. Philippart, M.: Neurofibromatose hereditaire a large spectre phenotypique (famille SN). J. Genet. Hum. 10: 338-346, 1961. 203. Porterfield, J. K.; Pyeritz, R. E.; Traill, T. A.: Pulmonary hypertension and interstitial fibrosis in von Recklinghausen neurofibromatosis. Am. J. Med. Genet. 25: 531-535, 1986. 204. Poyhonen, M.; Kytola, S.; Leisti, J.: Epidemiology of neurofibromatosis type 1 (NF1) in northern Finland. (Letter) J. Med. Genet. 37: 632-636, 2000. 205. Poyhonen, M.; Leisti, E.-L.; Kytola, S.; Leisti, J.: Hereditary spinal neurofibromatosis: a rare form of NF1? J. Med. Genet. 34: 184-187, 1997. 206. Pulst, S.-M.; Graham, J. M., Jr.; Fain, P.; Barker, D.; Pribyl, T.; Korenberg, J. R.: The achondroplasia gene is not linked to the locus for neurofibromatosis 1 on chromosome 17. Hum. Genet. 85: 12-14, 1990. 207. Pulst, S.-M.; Pribyl, T.; Barker, D. F.; Riccardi, V. M.; Ren, M.; Yaari, H.; Korenberg, J. R.: Molecular analysis of a patient with neurofibromatosis 1 and achondroplasia. Am. J. Med. Genet. 40: 84-87, 1991. 208. Pulst, S.-M.; Riccardi, V. M.; Fain, P.; Korenberg, J. R.: Familial spinal neurofibromatosis: clinical and DNA linkage analysis. Neurology 41: 1923-1927, 1991. 209. Purandare, S. M.; Lanyon, W. G.; Arngrimsson, R.; Connor, J. M.: Characterisation of a novel splice donor mutation affecting position +1 in intron 18 of the NF-1 gene. Hum. Molec. Genet. 4: 767-768, 1995. 210. Pyeritz, R. E.: Personal Communication. Baltimore, Md. 7/20/1987. 211. Ragge, N. K.; Falk, R. E.; Cohen, W. E.; Murphree, A. L.: Images of Lisch nodules across the spectrum. Eye 7: 95-101, 1993. 212. Rasmussen, S. A.; Colman, S. D.; Ho, V. T.; Abernathy, C. R.; Arn, P. H.; Weiss, L.; Schwartz, C.; Saul, R. A.; Wallace, M. R.: Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1. J. Med. Genet. 35: 468-471, 1998. 213. Rasmussen, S. A.; Yang, Q.; Friedman, J. M.: Mortality in neurofibromatosis 1: an analysis using U.S. death certificates. Am. J. Hum. Genet. 68: 1110-1118, 2001. 214. Reilly, K. M.; Loisel, D. A.; Bronson, R. T.; McLaughlin, M. E.; Jacks, T.: Nf1;Trp53 mutant mice develop glioblastoma with evidence of strain-specific effects. Nature Genet. 26: 109-113, 2000. 215. Reubi, F.: Neurofibromatose et lesions vasculaires. Schweiz. Med. Wochenschr. 75: 463-465, 1945. 216. Riccardi, V. M.: The vasculopathy of NF1 and histogenesis control genes. Clin. Genet. 58: 345-347, 2000. 217. Riccardi, V. M.: Von Recklinghausen neurofibromatosis. New Eng. J. Med. 305: 1617-1626, 1981. 218. Riccardi, V. M.: Personal Communication. Houston, Tex. 1982. 219. Riccardi, V. M.: Neurofibromatosis: clinical heterogeneity. Curr. Probl. Cancer 7: 1-34, 1982. 220. Riccardi, V. M.; Dobson, C. E., II; Chakraborty, R.; Bontke, C.: The pathophysiology of neurofibromatosis: IX. Paternal age as a factor in the origin of new mutations. Am. J. Med. Genet. 18: 169-176, 1984. 221. Riccardi, V. M.; Eichner, J. E.: Neurofibromatosis: Phenotype, Natural History and Pathogenesis. Baltimore: Johns Hopkins Univ. Press (pub.) 1986. 222. Riccardi, V. M.; Mulvihill, J. J.: Neurofibromatosis (von Recklinghausen Disease): Genetics, Cell Biology, and Biochemistry. Advances in Neurology. New York: Raven Press (pub.) 29: 1981. Pp. 304 only. 223. Ricciardone, M. D.; Ozcelik, T.; Cevher, B.; Ozdag, H.; Tuncer, M.; Gurgey, A.; Uzunalimoglu, O.; Cetinkaya, H.; Tanyeli, A.; Erken, E.; Ozturk, M.: Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1. Cancer Res. 59: 290-293, 1999. 224. Ritter, J. L.; Riccardi, V. M.: Von Recklinghausen neurofibromatosis (NFI): an argument for very high penetrance and a comparison of sporadic and inherited cases. (Abstract) Am. J. Hum. Genet. 37: A135, 1985. 225. Riva, P.; Castorina, P.; Manoukian, S.; Dalpra, L.; Doneda, L.; Marini, G.; den Dunnen, J.; Larizza, L.: Characterization of a cytogenetic 17q11.2 deletion in an NF1 patient with a contiguous gene syndrome. Hum. Genet. 98: 646-650, 1996. 226. Robertson, D.: Personal Communication. Nashville, Tenn. 8/1979. 227. Robinson, P. N.; Buske, A.; Neumann, R.; Tinschert, S.; Nurnberg, P.: Recurrent 2-bp deletion in exon 10c of the NF1 gene in two cases of von Recklinghausen neurofibromatosis. Hum. Mutat. 7: 85-88, 1996. 228. Rockower, S.; McKay, D.; Nason, S.: Dislocation of the spine in neurofibromatosis: a report of two cases. J. Bone Joint Surg. 64: 1240-1242, 1982. 229. Rosenquist, G. C.; Krovetz, L. J.; Haller, J. A., Jr.; Simon, A. L.; Bannayan, G. A.: Acquired right ventricular outflow obstruction in a child with neurofibromatosis. Am. Heart J. 79: 103-108, 1970. 230. Rutkowski, J. L.; Wu, K.; Gutmann, D. H.; Boyer, P. J.; Legius, E.: Genetic and cellular defects contributing to benign tumor formation in neurofibromatosis type 1. Hum. Molec. Genet. 9: 1059-1066, 2000. 231. Sakaguchi, N.; Sano, K.; Ito, M.; Baba, T.; Fukuzawa, M.; Hotchi, M.: A case of von Recklinghausen's disease with bilateral pheochromocytoma-malignant peripheral nerve sheath tumors of the adrenal and gastrointestinal autonomic nerve tumors. Am. J. Surg. Path. 20: 889-897, 1996. 232. Sakurai, T.: Multiple neurofibroma patient showing multiple flecks on the anterior surface of the iris. Acta Soc. Ophthal. Jpn. 39: 87-93, 1935. 233. Salyer, W. R.; Salyer, D. C.: The vascular lesions of neurofibromatosis. Angiology 25: 510-519, 1974. 234. Samuelsson, B.; Akesson, H. O.: Relative fertility and mutation rate in neurofibromatosis. Hereditas 108: 169-171, 1988. 235. Sands, M. J.; McDonough, M. T.; Cohen, A. M.; Rutenberg, H. L.; Eisner, J. W.: Fatal malignant degeneration in multiple neurofibromatosis. J.A.M.A. 233: 1381-1382, 1975. 236. Satran, L.; Letson, R. D.; Seljeskog, E. L.: Neurofibromatosis with congenital glaucoma and buphthalmos in a newborn. Am. J. Dis. Child. 134: 182-183, 1980. 237. Sawada, S.; Florell, S.; Purandare, S. M.; Ota, M.; Stephens, K.; Viskochil, D.: Identification of NF1 mutations in both alleles of a dermal neurofibroma. Nature Genet. 14: 110-112, 1996. 238. Sayed, A. K.; Bernhardt, B.; Perez-Atayde, A. R.; Bannerman, R. M.: Malignant schwannoma in siblings with neurofibromatosis. Cancer 59: 829-835, 1987. 239. Schenkein, I.; Bueker, E. D.; Helson, L.; Axelrod, F.; Dancis, J.: Increased nerve-growth stimulating activity in disseminated neurofibromatosis. New Eng. J. Med. 290: 613-614, 1974. 240. Schmidt, M. A.; Michels, V. V.; Dewald, G. W.: Cases of neurofibromatosis with rearrangements of chromosome 17 involving band 17q11.2. Am. J. Med. Genet. 28: 771-777, 1987. 241. Schotland, H. M.; Eldridge, R.; Sommer, S. S.; Malawar, M.: Neurofibromatosis 1 and osseous fibrous dysplasia in a family. Am. J. Med. Genet. 43: 815-822, 1992. 242. Seizinger, B. R.; Farmer, G. E.; Haines, J. L.; Ozelius, L. J.; Anderson, K.; Korf, B. R.; Parry, D. M.; Pericak-Vance, M. A.; Mulvihill, J. J.; Menon, A.; Hobbs, W. J.; Martuza, R. L.; Gusella, J. F.: Flanking markers for the gene causing von Recklinghausen neurofibromatosis (NF1). Am. J. Hum. Genet. 44: 30-32, 1989. 243. Seizinger, B. R.; Rouleau, G. A.; Ozelius, L. J.; Lane, A. H.; Faryniarz, A. G.; Chao, M. V.; Huson, S.; Korf, B. R.; Parry, D. M.; Pericak-Vance, M. A.; and 21 others: Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene. Cell 49: 589-594, 1987. 244. Seizinger, B. R.; Rouleau, G. A.; Ozelius, L. J.; Lane, A. H.; Faryniarz, A. G.; Chao, M. V.; Huson, S.; Korf, B. R.; Parry, D. M.; Pericak-Vance, M. A.; Collins, F. S.; Hobbs, W. J.; and 21 others : Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene. (Abstract) Cytogenet. Cell Genet. 46: 690 only, 1987. 245. Senveli, E.; Altinors, N.; Kars, Z.; Arda, N.; Turker, A.; Cinar, N.; Yalniz, Z.: Association of von Recklinghausen's neurofibromatosis and aqueduct stenosis. Neurosurgery 24: 99-101, 1989. 246. Serra, E.; Ars, E.; Ravella, A.; Sanchez, A.; Puig, S.; Rosenbaum, T.; Estivill, X.; Lazaro, C.: Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutations. Hum. Genet. 108: 416-429, 2001. 247. Serra, E.; Puig, S.; Otero, D.; Gaona, A.; Kruyer, H.; Ars, E.; Estivill, X.; Lazaro, C.: Confirmation of a double-hit model for the NF1 gene in benign neurofibromas. Am. J. Hum. Genet. 61: 512-519, 1997. 248. Serra, E.; Rosenbaum, T.; Winner, U.; Aledo, R.; Ars, E.; Estivill, X.; Lenard, H.-G.; Lazaro, C.: Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations. Hum. Molec. Genet. 9: 3055-3064, 2000. 249. Shannon, K. M.; O'Connell, P.; Martin, G. A.; Paderanga, D.; Olson, K.; Dinndorf, P.; McCormick, F.: Loss of the normal NF1 allele from the bone marrow of children with type 1 neurofibromatosis and malignant myeloid disorders. New Eng. J. Med. 330: 597-601, 1994. 250. Shannon, K. M.; Watterson, J.; Johnson, P.; O'Connell, P.; Lange, B.; Shah, N.; Steinherz, P.; Kan, Y. W.; Priest, J. R.: Monosomy 7 myeloproliferative disease in children with neurofibromatosis, type 1: epidemiology and molecular analysis. Blood 79: 1311-1318, 1992. 251. Shen, M. H.; Harper, P. S.; Upadhyaya, M.: Molecular genetics of neurofibromatosis type 1 (NF1). J. Med. Genet. 33: 2-17, 1996. 252. Side, L.; Taylor, B.; Cayouette, M.; Conner, E.; Thompson, P.; Luce, M.; Shannon, K.: Homozygous inactivation of the NF1 gene in bone marrow cells from children with neurofibromatosis type 1 and malignant myeloid disorders. New Eng. J. Med. 336: 1713-1720, 1997. 253. Side, L. E.; Emanuel, P. D.; Taylor, B.; Franklin, J.; Thompson, P.; Castleberry, R. P.; Shannon, K. M.: Mutations of the NF1 gene in children with juvenile myelomonocytic leukemia without clinical evidence of neurofibromatosis, type 1. Blood 92: 267-272, 1998. 254. Siggers, D. C.; Boyer, S. H.; Eldridge, R.: Nerve-growth factor in disseminated neurofibromatosis. (Letter) New Eng. J. Med. 292: 1134, 1975. 255. Silva, A. J.; Frankland, P. W.; Marowitz, Z.; Friedman, E.; Lazlo, G.; Cioffi, D.; Jacks, T.; Bourtchuladze, R.: A mouse model for the learning and memory deficits associated with neurofibromatosis type I. Nature Genet. 15: 281-284, 1997. 256. Singhal, S.; Birch, J. M.; Kerr, B.; Lashford, L.; Evans, D. G. R.: Neurofibromatosis type 1 and sporadic optic gliomas. Arch. Dis. Child. 87: 65-70, 2002. 257. Skuse, G. R.; Cappione, A. J.: RNA processing and clinical variability in neurofibromatosis type 1 (NF1). Hum. Mol. Genet. 6: 1707-1712, 1997. 258. Skuse, G. R.; Cappione, A. J.; Sowden, M.; Metheny, L. J.; Smith, H. C.: The neurofibromatosis type I messenger RNA undergoes base-modification RNA editing. Nucleic Acids Res. 24: 478-485, 1996. 259. Skuse, G. R.; Kosciolek, B. A.; Rowley, P. T.: Molecular genetic analysis of tumors in von Recklinghausen neurofibromatosis: loss of heterozygosity for chromosome 17. Genes Chromosomes Cancer 1: 36-41, 1989. 260. Skuse, G. R.; Kosciolek, B. A.; Rowley, P. T.: The neurofibroma in von Recklinghausen neurofibromatosis has a unicellular origin. Am. J. Hum. Genet. 49: 600-607, 1991. 261. Smith, C. J.; Hatch, F. E.; Johnson, J. G.; Kelly, B. J.: Renal artery dysplasia as a cause of hypertension in neurofibromatosis. Arch. Intern. Med. 125: 1022-1026, 1970. 262. Sorensen, S. A.; Mulvihill, J. J.; Nielsen, A.: Long-term follow-up of von Recklinghausen neurofibromatosis: survival and malignant neoplasms. New Eng. J. Med. 314: 1010-1015, 1986. 263. Stambolian, D.; Zackai, E. H.: Gene location in neurofibromatosis. (Letter) Am. J. Med. Genet. 29: 963-965, 1988. 264. Stanley, J. C.: Arterial fibrodysplasia. Arch. Surg. 110: 561-566, 1975. 265. Stanley, J. C.; Fry, W. J.: Pediatric renal artery occlusive disease and renovascular hypertension: etiology, diagnosis, and operative treatment. Arch. Surg. 116: 669-676, 1981. 266. Stark, M.; Assum, G.; Kaufmann, D.; Kehrer, H.; Krone, W.: Analysis of segregation and expression of an identified mutation at the neurofibromatosis type 1 locus. Hum. Genet. 90: 356-359, 1992. 267. Stark, M.; Assum, G.; Krone, W.: Single-cell PCR performed with neurofibroma Schwann cells reveals the presence of both alleles of the neurofibromatosis type 1 (NF1) gene. Hum. Genet. 96: 619-623, 1995. 268. Stark, M.; Assum, G.; Krone, W.: A small deletion and an adjacent base exchange in a potential stem-loop region of the neurofibromatosis 1 gene. Hum. Genet. 87: 685-687, 1991. 269. Stephens, K.; Green, P.; Riccardi, V. M.; Ng, S.; Rising, M.; Barker, D.; Darby, J. K.; Falls, K. M.; Collins, F. S.; Willard, H. F.; Donis-Keller, H.: Genetic analysis of eight loci tightly linked to neurofibromatosis 1. Am. J. Hum. Genet. 44: 13-19, 1989. 270. Stephens, K.; Kayes, L.; Riccardi, V. M.; Rising, M.; Sybert, V. P.; Pagon, R. A.: Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes. Hum. Genet. 88: 279-282, 1992. 271. Stevenson, D. A.; Birch, P. H.; Friedman, J. M.; Viskochil, D. H.; Balestrazzi, P.; Boni, S.; Buske, A.; Korf, B. R.; Niimura, M.; Pivnick, E. K.; Schorry, E. K.; Short, M. P.; Tenconi, R.; Tonsgard, J. H.; Carey, J. C.: Descriptive analysis of tibial pseudoarthrosis in patients with neurofibromatosis 1. Am. J. Med. Genet. 84: 413-419, 1999. 272. Streubel, B.; Latta, E.; Kehrer-Sawatzki, H.; Hoffmann, G. F.; Fonatsch, C.; Rehder, H.: Somatic mosaicism of a greater than 1.7-Mb deletion of genomic DNA involving the entire NF1 gene as verified by FISH: further evidence for a contiguous gene syndrome in 17q11.2. Am. J. Med. Genet. 87: 12-16, 1999. 273. Stumpf, D. A.; Alksne, J. F.; Annegers, J. F.; Brown, S. S.; Conneally, P. M.; Housman, D.; Leppert, M. F.; Miller, J. P.; Moss, M. L.; Pileggi, A. J.; Rapin, I.; Strohman, R. C.; Swanson, L. W.; Zimmerman, A.: Neurofibromatosis: conference statement. Arch. Neurol. 45: 575-578, 1988. 274. Sutphen, R.; Galan-Gomez, E.; Kousseff, B. G.: Clitoromegaly in neurofibromatosis. Am. J. Med. Genet. 55: 325-330, 1995. 275. Swinburn, B. A.; Yeong, M. L.; Lane, M. R.; Nicholson, G. I.; Holdaway, I. M.: Neurofibromatosis associated with somatostatinoma: a report of two patients. Clin. Endocr. 28: 353-359, 1988. 276. Szudek, J.; Birch, P.; Friedman, J. M.; The National Neurofibromatosis Foundation International Database Participants: Growth in North American white children with neurofibromatosis 1 (NF1). J. Med. Genet. 37: 933-938, 2000. 277. Tassabehji, M.; Strachan, T.; Sharland, M.; Colley, A.; Donnai, D.; Harris, R.; Thakker, N.: Tandem duplication within a neurofibromatosis type I (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome. Am. J. Hum. Genet. 53: 90-95, 1993. 278. Taylor, P. E.: Encapsulated glioma of the sylvian fissure associated with neurofibromatosis. Report of a case with histopathological comparison of surgical lesion and autopsy specimen following recurrence. J. Neuropath. Exp. Neurol. 21: 566-578, 1962. 279. The, I.; Hannigan, G. E.; Cowley, G. S.; Reginald, S.; Zhong, Y.; Gusella, J. F.; Hariharan, I. K.; Bernards, A.: Rescue of a Drosophila NF1 mutant phenotype by protein kinase A. Science 276: 791-794, 1997. 280. Tinschert, S.; Naumann, I.; Stegmann, E.; Buske, A.; Kaufmann, D.; Thiel, G.; Jenne, D. E.: Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene. Europ. J. Hum. Genet. 8: 455-459, 2000. 281. Tomsick, T. A.; Lukin, R. R.; Chambers, A. A.; Benton, C.: Neurofibromatosis and intracranial arterial occlusive disease. Neuroradiology 11: 229-234, 1976. 282. Tonsgard, J. H.; Yelavarthi, K. K.; Cushner, S.; Short, M. P.; Lindgren, V.: Do NF1 gene deletions result in a characteristic phenotype? Am. J. Med. Genet. 73: 80-86, 1997. 283. Upadhyaya, M.; Cheryson, A.; Broadhead, W.; Fryer, A.; Shaw, D. J.; Huson, S.; Wallace, M. R.; Andersen, L. B.; Marchuk, D. A.; Viskochil, D.; Black, D.; O'Connell, P.; Collins, F. S.; Harper, P. S.: A 90 kb DNA deletion associated with neurofibromatosis type 1. J. Med. Genet. 27: 738-741, 1990. 284. Upadhyaya, M.; Cooper, D. N. (eds.): Neurofibromatosis Type 1: from Genotype to Phenotype. Oxford: BIOS Scientific Publ. , 1998. 285. Upadhyaya, M.; Maynard, J.; Osborn, M.; Huson, S. M.; Ponder, M.; Ponder, B. A. J.; Harper, P. S.: Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene. J. Med. Genet. 32: 706-710, 1995. 286. Upadhyaya, M.; Osborn, M. J.; Maynard, J.; Kim, M. R.; Tamanoi, F.; Cooper, D. N.: Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene. Hum. Genet. 99: 88-92, 1997. 287. Upadhyaya, M.; Roberts, S. H.; Maynard, J.; Sorour, E.; Thompson, P. W.; Vaughan, M.; Wilkie, A. O. M.; Hughes, H. E.: A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay. J. Med. Genet. 33: 148-152, 1996. 288. Upadhyaya, M.; Ruggieri, M.; Maynard, J.; Osborn, M.; Hartog, C.; Mudd, S.; Penttinen, M.; Cordeiro, I.; Ponder, M.; Ponder, B. A. J.; Krawczak, M.; Cooper, D. N.: Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay. Hum. Genet. 102: 591-597, 1998. 289. Upadhyaya, M.; Sarfarazi, M.; Huson, S. M.; Broadhead, W.; Fryer, A.; Harper, P. S.: Close flanking markers for neurofibromatosis type 1 (NF1). Am. J. Hum. Genet. 44: 41-47, 1989. 290. Upadhyaya, M.; Sarfarazi, M.; Huson, S. M.; Broadhead, W.; Fryer, A. E.; Harper, P. S.: Genetic linkage mapping of chromosome 17 markers and neurofibromatosis type I (NF1). (Abstract) Cytogenet. Cell Genet. 51: 1094, 1989. 291. Upadhyaya, M.; Shen, M.; Cherryson, A.; Farnham, J.; Maynard, J.; Huson, S. M.; Harper, P. S.: Analysis of mutations at the neurofibromatosis 1 (NF1) locus. Hum. Molec. Genet. 1: 735-740, 1992. 292. Uren, N.; Been, M.; Guzman, F.: Congenital left atrial wall aneurysm in a patient with neurofibromatosis. Brit. Heart J. 59: 391-394, 1988. 293. Valero, M. C.; Velasco, E.; Moreno, F.; Hernandez-Chico, C.: Characterization of four mutations in the neurofibromatosis type 1 gene by denaturing gradient gel electrophoresis (DGGE). Hum. Molec. Genet. 3: 639-641, 1994. 294. Vance, J. M.; Pericak-Vance, M. A.; Yamaoka, L. H.; Speer, M. C.; Rosenwasser, G. O. D.; Small, K.; Gaskell, P. C., Jr.; Hung, W.-Y.; Alberts, M. J.; Haynes, C. S.; Gilbert, J. R.; Aylsworth, A. S.; Roses, A. D.: Genetic linkage mapping of chromosome 17 markers and neurofibromatosis type 1. Am. J. Med. Genet. 44: 25-29, 1989. 295. Viskochil, D.; Buchberg, A. M.; Xu, G.; Cawthon, R. M.; Stevens, J.; Wolff, R. K.; Culver, M.; Carey, J. C.; Copeland, N. G.; Jenkins, N. A.; White, R.; O'Connell, P.: Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell 62: 187-192, 1990. 296. Vogel, K. S.; Brannan, C. I.; Jenkins, N. A.; Copeland, N. G.; Parada, L. F.: Loss of neurofibromin results in neurotrophin-independent survival of embryonic sensory and sympathetic neurons. Cell 82: 733-742, 1995. 297. Vogel, K. S.; Klesse, L. J.; Velasco-Miguel, S.; Meyers, K.; Rushing, E. J.; Parada, L. F.: Mouse tumor model for neurofibromatosis type 1. Science 286: 2176-2179, 1999. 298. von Recklinghausen, F.: Ueber die multiplen Fibrome der Haut und ihre Beziehung zu den multiplen Neuromen. Berlin: August Hirschwald (pub.) 1882. 299. Voutsinas, S.; Wynne-Davies, R.: The infrequency of malignant disease in diaphyseal aclasis and neurofibromatosis. J. Med. Genet. 20: 345-349, 1983. 300. Waggoner, D. J.; Towbin, J.; Gottesman, G.; Gutmann, D. H.: Clinic-based study of plexiform neurofibromas in neurofibromatosis 1. Am. J. Med. Genet. 92: 132-135, 2000. 301. Wallace, M.; Fountain, J.; Ledbetter, D. H.; Leach, R.; Fournier, R. E. K.; O'Connell, P.; White, R.; Seizinger, B.; Menon, A.; Gusella, J. F.; Collins, F. S.: A NotI linking clone detects the 17q11.2 breakpoints in two patients with von Recklinghausen neurofibromatosis (NF1). (Abstract) Cytogenet. Cell Genet. 51: 1101, 1989. 302. Wallace, M. R.; Andersen, L. B.; Marchuk, D. A.; Mitchell, A. L.; Letcher, R.; Odeh, H.; Saulino, A. M.; Brereton, A.; Collins, F. S.: Candidate genes in the von Recklinghausen neurofibromatosis (NF1) region. (Abstract) Am. J. Hum. Genet. 47 (suppl.): A240, 1990. 303. Wallace, M. R.; Andersen, L. B.; Saulino, A. M.; Gregory, P. E.; Glover, T. W.; Collins, F. S.: A de novo Alu insertion results in neurofibromatosis type 1. Nature 353: 864-866, 1991. 304. Wallace, M. R.; Marchuk, D. A.; Andersen, L. B.; Letcher, R.; Odeh, H. M.; Saulino, A. M.; Fountain, J. W.; Brereton, A.; Nicholson, J.; Mitchell, A. L.; Brownstein, B. H.; Collins, F. S.: Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. Science 249: 181-186, 1990. 305. Wallis, K.; Deutsch, V.; Azizi, E.: Hypertension in a case of Von Recklinghausen's neurofibromatosis. Helv. Paediat. Acta 25: 147-153, 1970. 306. Wang, Q.; Lasset, C.; Desseigne, F.; Frappaz, D.; Bergeron, C.; Navarro, C.; Ruano, E.; Puisieux, A.: Neurofibromatosis and early onset of cancers in hMLH1-deficient children. Cancer Res. 59: 294-297, 1999. 307. Ward, K.; O'Connell, P.; Carey, J. C.; Leppert, M.; Jolley, S.; Plaetke, R.; Ogden, B.; White, R.: Diagnosis of neurofibromatosis 1 by using tightly linked, flanking DNA markers. Am. J. Hum. Genet. 46: 943-949, 1990. 308. Weiming, X.; Yu, Q.; Lizhi, L.; Ponder, M.; Wallace, M.; Gangfeng, X.; Ponder, B.: Molecular analysis of neurofibromatosis type 1 mutations. Hum. Mutat. 1: 474-477, 1992. 309. Westerhof, W.; Delleman, J. W.; Wolters, E. C. M. J.; Dijkstra, P. F.: Neurofibromatosis and hypertelorism. Brit. J. Derm. 109: 475-477, 1983. 310. Winter, R. B.: Spontaneous dislocation of a vertebra in a patient who had neurofibromatosis: report of a case with dural ectasia. J. Bone Joint Surg. 73A: 1402-1404, 1991. 311. Wolkenstein, P.; Mahmoudi, A.; Zeller, J.; Revuz, J.: More on the frequency of segmental neurofibromatosis. (Letter) Arch. Derm. 131: 1465, 1995. 312. Woody, R. C.; Perrot, L. J.; Beck, S. A.: Neurofibromatosis cerebral vasculopathy in an infant: clinical, neuroradiographic, and neuropathologic studies. Pediat. Path. 12: 613-619, 1992. 313. Wu, B.-L.; Austin, M. A.; Schneider, G. H.; Boles, R. G.; Korf, B. R.: Deletion of the entire NF1 gene detected by FISH: four deletion patients associated with severe manifestations. Am. J. Med. Genet. 59: 528-535, 1995. 314. Wu, B.-L.; Schneider, G. H.; Korf, B. R.: Deletion of the entire NF1 gene causing distinct manifestations in a family. Am. J. Med. Genet. 69: 98-101, 1997. 315. Wu, B. L.; Boles, R. G.; Yaari, H.; Weremowicz, S.; Schneider, G. H.; Korf, B. R.: Somatic mosaicism for deletion of the entire NF1 gene identified by FISH. Hum. Genet. 99: 209-213, 1997. 316. Wu, R.; Legius, E.; Robberecht, W.; Dumoulin, M.; Cassiman, J.-J.; Fryns, J.-P.: Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome. Hum. Mutat. 8: 51-56, 1996. 317. Xu, G.; O'Connell, P.; Stevens, J.; White, R.: Characterization of human adenylate kinase 3 (AK3) cDNA and mapping of the AK3 pseudogene to an intron of the NF1 gene. Genomics 13: 537-542, 1992. 318. Xu, G.; O'Connell, P.; Viskochil, D.; Cawthon, R.; Robertson, M.; Culver, M.; Dunn, D.; Stevens, J.; Gesteland, R.; White, R.; Weiss, R.: The neurofibromatosis type 1 gene encodes a protein related to GAP. Cell 62: 599-608, 1990. 319. Xu, W.; Lizhi, L.; Yuengde, B.; Yagle, M.; Solomon, E.: Enrichment of regional cosmid clones from a human chromosome 17 transfectant PLT-6B constructed by chromosome mediated gene transfer. (Abstract) Cytogenet. Cell Genet. 51: 1112, 1989. 320. Yagle, M.; Rider, S. H.; Parruti, G.; Nicolai, H.; Borrow, J.; Mathew, C.; Ponder, B.; Sheer, D.; Ledbetter, D.; Solomon, E.: Isolation of cosmids flanking the translocations for acute promyelocytic leukaemia (APL) and von Recklinghausen neurofibromatosis (NF1). (Abstract) Cytogenet. Cell Genet. 51: 1112, 1989. 321. Yagle, M. K.; Parruti, G.; Xu, W.; Ponder, B. A. J.; Solomon, E.: Genetic and physical map of the von Recklinghausen neurofibromatosis (NF1) region on chromosome 17. Proc. Nat. Acad. Sci. 87: 7255-7259, 1990. 322. Yamauchi, T.; Tada, M.; Houkin, K.; Tanaka, T.; Nakamura, Y.; Kuroda, S.; Abe, H.; Inoue, T.; Ikezaki, K.; Matsushima, T.; Fukui, M.: Linkage of familial moyamoya disease (spontaneous occlusion of the circle of Willis) to chromosome 17q25. Stroke 31: 930-935, 2000. 323. Yasunari, T.; Shiraki, K.; Hattori, H.; Miki, T.: Frequency of choroidal abnormalities in neurofibromatosis type 1. Lancet 356: 988-992, 2000. 324. Zacharin, M.: Precocious puberty in two children with neurofibromatosis type I in the absence of optic chiasmal glioma. J. Pediat. 130: 155-157, 1997. 325. Zehavi, C.; Romano, A.; Goodman, R. M.: Iris (Lisch) nodules in neurofibromatosis. Clin. Genet. 29: 51-55, 1986. 326. Zhu, Y.; Ghosh, P.; Charnay, P.; Burns, D. K.; Parada, L. F. : Neurofibromas in NF1: Schwann cell origin and role of tumor environment. Science 296: 920-922, 2002. 327. Zochodne, D.: Von Recklinghausen's vasculopathy. Am. J. Med. Sci. 287: 64-65, 1984. 328. Zonana, J.; Weleber, R. G.: Segmental neurofibromatosis and iris hamartomata (Lisch nodules). (Abstract) Proc. Greenwood Genet. Center 3: 140-141, 1984.
[0015886]6474.Pulst, S.-M.; Riccardi, V. M.; Fain, P.; Korenberg, J. R.: Familial spinal neurofibromatosis: clinical and DNA linkage analysis. Neurology 41: 1923-1927, 1991.
[0015887]6475.Sano, Y.; Nishimukai, H.; Kitamura, H.; Nagaki, K.; Inai, S.; Hamasaki, Y.; Maruyama, I.; Igata, A.: Hereditary deficiency of the third component of complement in two sisters with systemic lupus erythematosus-like symptoms. Arthritis Rheum. 24: 1255-1260, 1981.
[0015888]6476.Hadidi, H.; Zahlsen, K.; Idle, J. R.; Cholerton, S.: A single amino acid substitution (leu160his) in cytochrome P450 CYP2A6 causes switching from 7-hydroxylation to 3-hydroxylation of coumarin. Food Chem. Toxicol. 35: 903-907, 1997.
[0015889]6477.Kanazawa, I.: Dentatorubral-pallidoluysian atrophy or Naito-Oyanagi disease. Neurogenetics 2: 1-17, 1998.
[0015890]6478.Porjesz, B.; Almasy, L.; Edenberg, H. J.; Wang, K.; Chorlian, D. B.; Foroud, T.; Goate, A.; Rice, J. P.; O'Connor, S. J.; Rohrbaugh, J.; Kuperman, S.; Bauer, L. O.; Crowe, R. R.; Schuckit, M. A.; Hesselbrock, V.; Conneally, P. M.; Tischfield, J. A.; Li, T.-K.; Reich, T.; Begleiter, H.: Linkage disequilibrium between the beta frequency of the human EEG and a GABA-A receptor gene locus. Proc. Nat. Acad. Sci. 99: 3729-3733, 2002.
[0015891]6479.Yoon, S.-J.; LeBlanc-Straceski, J.; Ward, D.; Krauter, K.; Kucherlapati, R.: Organization of the human keratin type II gene cluster at 12q13. Genomics 24: 502-508, 1994.
[0015892]6480.Hermouet, S.; Merendino, J. J., Jr.; Gutkind, J. S.; Spiegel, A. M.: Activating and inactivating mutations of the alpha subunit of G(i2) protein have opposite effects on proliferation of NIH 3T3 cells. Proc. Nat. Acad. Sci. 88: 10455-10459, 1991.
[0015893]6481.Lerman, B. B.; Dong, B.; Stein, K. M.; Markowitz, S. M.; Linden, J.; Catanzaro, D. F.: Right ventricular outflow tract tachycardia due to a somatic cell mutation in G protein subunit-alpha-i2. J. Clin. Invest. 101: 2862-2868, 1998.
[0015894]6482.Lyons, J.; Landis, C. A.; Harsh, G.; Vallar, L.; Grunewald, K.; Feichtinger, H.; Duh, Q.-Y.; Clark, O. H.; Kawasaki, E.; Bourne, H. R.; McCormick, F.: Two G protein oncogenes in human endocrine tumors. Science 249: 655-659, 1990.
[0015895]6483.Rudolph, U.; Finegold, M. J.; Rich, S. S.; Harriman, G. R.; Srinivasan, Y.; Brabet, P.; Boulay, G.; Bradley, A.; Birnbaumer, L.: Ulcerative colitis and adenocarcinoma of the colon in G alpha(i2)-deficient mice. Nature Genet. 10: 143-150, 1995.
[0015896]6484.Baron, B.; Fernandez, M. A.; Toledo, F.; Le Roscouet, D.; Mayau, V.; Martin, N.; Buttin, G.; Debatisse, M.: The highly conserved Chinese hamster GNAI3 gene maps less than 60 kb from the AMPD2 gene and lacks the intronic U6 snRNA present in its human counterpart. Genomics 24: 288-294, 1994.
[0015897]6485.Sissons, J. G. P.; West, R. J.; Fallows, J.; Williams, D. G.; Boucher, B. J.; Amos, N.; Peters, D. K.: The complement abnormalities of lipodystrophy. New Eng. J. Med. 294: 461-465, 1976.
[0015898]6486.Teisberg, P.: New variants in the C3 system. Hum. Hered. 20: 631-637, 1970.
[0015899]6487.Teisberg, P.: Another variant in the C3 system. Clin. Genet. 2: 298-302, 1971.
[0015900]6488.Whitehead, A. S.; Sim, R. B.; Bodmer, W. F.: A monoclonal antibody against human complement component C3: the production of C3 by human cells in vitro. Europ. J. Immun. 11: 140-146, 1981.
[0015901]6489.Whitehead, A. S.; Solomon, E.; Chambers, S.; Bodmer, W. F.; Povey, S.; Fey, G.: Assignment of the structural gene for the third component of human complement to chromosome 19. Proc. Nat. Acad. Sci. 79: 5021-5025, 1982.
[0015902]6490.Whitehead, A. S.; Solomon, E.; Chambers, S. P.; Povey, S.; Bodmer, W. F.: Assignment of the gene for the third component of human complement (C3) to chromosome 19 using human-mouse somatic cell hybrids. (Abstract) Cytogenet. Cell Genet. 32: 326-327, 1982.
[0015903]6491.Wieme, R. J.; Demeulenaere, L.: Genetically determined electrophoretic variant of the human complement component C-prime-3. Nature 214: 1042-1043, 1967.
[0015904]6492.Williamson, R.: Personal Communication. London, England 8/25/1983.
[0015905]6493.Winkelstein, J. A.; Cork, L. C.; Griffin, D. E.; Griffin, J. W.; Adams, R. J.; Price, D. L.: Genetically determined deficiency of the third component of complement in the dog. Science 212: 1169-1170, 1981.
[0015906]6494.Kratz, F.: Coumarin-7-hydroxylase activity in microsomes from needle biopsies of normal and diseased human liver. Europ. J. Clin. Pharm. 10: 133-137, 1976.
[0015907]6495.London, S. J.; Idle, J. R.; Daly, A. K.; Coetzee, G. A.: Genetic variation of CYP2A6, smoking, and risk of cancer. Lancet 353: 898-899, 1999.
[0015908]6496.Miyamoto, M.; Umetsu, Y.; Dosaka-Akita, H.; Sawamura, Y.; Yokota, J.; Kunitoh, H.; Nemoto, N.; Sato, K.; Ariyoshi, N.; Kamataki, T. : CYP2A6 gene deletion reduces susceptibility to lung cancer. Biochem. Biophys. Res. Commun. 261: 658-660, 1999.
[0015909]6497.Nakajima, M.; Yamamoto, T.; Nunoya, K.; Yokoi, T.; Nagashima, K.; Inoue, K.; Funae, Y.; Shimada, N.; Kamataki, T.; Kuroiwa, Y.: Role of human cytochrome P4502A6 in C-oxidation of nicotine. Drug Metab. Dispos. 24: 1212-1217, 1996.
[0015910]6498.Oscarson, M.; Gullsten, H.; Rautio, A.; Bernal, M. L.; Sinues, B.; Dahl, M.-L.; Stengard, J. H.; Pelkonen, O.; Raunio, H.; Ingelman-Sundberg, M.: Genotyping of human cytochrome P450 2A6 (CYP2A6), a nicotine C-oxidase. FEBS Lett. 438: 201-205, 1998.
[0015911]6499.Oscarson, M.; McLellan, R. A.; Gullsten, H.; Yue, Q.-Y.; Lang, M. A.; Bernal, M. L.; Sinues, B.; Hirvonen, A.; Raunio, H.; Pelkonen, O.; Ingelman-Sundberg, M.: Characterisation and PCRbased detection of a CYP2A6 gene deletion found at a high frequency in a Chinese population. FEBS Lett. 448: 105-110, 1999.
[0015912]6500.Pianezza, M. L.; Sellers, E. M.; Tyndale, R. F.: Nicotine metabolism defect reduces smoking. Nature 393: 750 only, 1998.
[0015913]6501.Sabol, S. Z.; Hamer, D. H.: An improved assay shows no association between the CYP2A6 gene and cigarette smoking behavior. Behav. Genet. 29: 257-261, 1999.
[0015914]6502.Wood, A. W.; Conney, A. H.: Genetic variation in coumarin hydroxylase activity in mouse (Mus musculus). Science 185: 612-614, 1974.
[0015915]6503.Yamano, S.; Nagata, K.; Yamazoe, Y.; Kato, R.; Gelboin, H. V.; Gonzalez, F. J.: cDNA and deduced amino acid sequences of human P450 IIA3 (CYP2A3). Nucleic Acids Res. 17: 4888 only, 1989.
[0015916]6504.Yokoi, T.; Kamataki, T.: Genetic polymorphism of drug metabolizing enzymes: new mutations in CYP2D6 and CYP2A6 gene in Japanese. Pharm. Res. 15: 517-524, 1998.
[0015917]6505.Koide, R.; Ikeuchi, T.; Onodera, O.; Tanaka, H.; Igarashi, S.; Endo, K.; Takahashi, H.; Kondo, R.; Ishikawa, A.; Hayashi, T.; Saito, M.; Tomoda, A.; Miike, T.; Naito, H.; Ikuta, F.; Tsuji, S.: Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nature Genet. 6: 9-13, 1994.
[0015918]6506.Kondo, I.; Ohta, H.; Yazaki, M.; Ikeda, J.-E.; Gusella, J. F.; Kanazawa, I.: Exclusion mapping of the hereditary dentatorubropallidoluysian atrophy gene from the Huntington's disease locus. J. Med. Genet. 27: 105-108, 1990.
[0015919]6507.Kuwano, A.; Morimoto, Y.; Nagai, T.; Fukushima, Y.; Ohashi, H.; Hasegawa, T.; Kondo, I.: Precise chromosomal locations of the genes for dentatorubral-pallidoluysian atrophy (DRPLA), von Willebrand factor (F8vWF) and parathyroid hormone-like hormone (PTHLH) in human chromosome 12p by deletion mapping. Hum. Genet. 97: 95-98, 1996.
[0015920]6508.Li, S.-H.; McInnis, M. G.; Margolis, R. L.; Antonarakis, S. E.; Ross, C. A.: Novel triplet repeat containing genes in human brain: cloning, expression, and length polymorphisms. Genomics 16: 572-579, 1993.
[0015921]6509.Naito, H.; Oyanagi, S.: Familial myoclonus epilepsy and choreoathetosis: hereditary dentatorubral-pallidoluysian atrophy. Neurology 32: 798-807, 1982.
[0015922]6510.Arcioni, L.; Simeone, A.; Guazzi, S.; Zappavigna, V.; Boncinelli, E.; Mavilio, F.: The upstream region of the human homeobox gene HOX3D is a target for regulation by retinoic acid and HOX homeoproteins. EMBO J. 11: 265-277, 1992.
[0015923]6511.Godwin, A. R.; Capecchi, M. R.: Hoxc13 mutant mice lack external hair. Genes Dev. 12: 11-20, 1998.
[0015924]6512.Goodman, F. R.: Limb malformations and the human HOX genes. Am. J. Med. Genet. 112: 256-265, 2002.
[0015925]6513.Magli, M. C.; Barba, P.; Celetti, A.; De Vita, G.; Cillo, C.; Boncinelli, E.: Coordinate regulation of HOX genes in human hematopoietic cells. Proc. Nat. Acad. Sci. 88: 6348-6352, 1991.
[0015926]6514.Pravtcheva, D.; Newman, M.; Hunihan, L.; Lonai, P.; Ruddle, F. H.: Chromosome assignment of the murine Hox-4.1 gene. Genomics 5: 541-545, 1989.
[0015927]6515.Taniguchi, Y.; Komatsu, N.; Moriuchi, T.: Overexpression of the HOX4A (HOXD3) homeobox gene in human erythroleukemia HEL cells results in altered adhesive properties. Blood 85: 2786-2794, 1995.
[0015928]6516.Zakany, J.; Duboule, D.: Hox genes and the making of sphincters. Nature 401: 761-762, 1999.
[0015929]6517.Mavilio, F.; Simeone, A.; Giampaolo, A.; Faiella, A.; Zappavigna, V.; Acampora, D.; Poiana, G.; Russo, G.; Peschle, C.; Boncinelli, E.: Differential and stage-related expression in embryonic tissues of a new human homoeobox gene. Nature 324: 664-668, 1986.
[0015930]6518.Oliver, G.; Sidell, N.; Fiske, W.; Heinzmann, C.; Mohandas, T.; Sparkes, R. S.; De Robertis, E. M.: Complementary homeo protein gradients in developing limb buds. Genes Dev. 3: 641-650, 1989.
[0015931]6519.Shaw, D. J.; Meredith, A. L.; Brook, J. D.; Sarfarazi, M.; Harley, H. G.; Huson, S. M.; Bell, G. I.; Harper, P. S.: Linkage relationships of the insulin receptor gene with the complement component 3, LDL receptor, apolipoprotein C2 and myotonic dystrophy loci on chromosome 19. Hum. Genet. 74: 267-269, 1986.
[0015932]6520.Blangy, A.; Lane, H. A.; d'Herin, P.; Harper, M.; Kress, M.; Nigg, E. A.: Phosphorylation by p34(cdc2) regulates spindle association of human Eg5, a kinesin-related motor essential for bipolar spindle formation in vivo. Cell 83: 1159-1169, 1995.
[0015933]6521.Mock, B. A.; Givol, D.; D'Hoostelaere, L. A.; Huppi, K.; Seldin, M. F.; Gurfinkel, N.; Unger, T.; Potter, M.; Mushinski, J. F.: Mapping of the bcl-2 oncogene on mouse chromosome 1. Cytogenet. Cell Genet. 47: 11-15, 1988.
[0015934]6522.Shimada, F.; Suzuki, Y.; Taira, M.; Hashimoto, N.; Nozaki, O.; Makino, H.; Yoshida, S.: Abnormal messenger ribonucleic acid (mRNA) transcribed from a mutant insulin receptor gene in a patient with type A insulin resistance. Diabetologia 35: 639-644, 1992.
[0015935]6523.Shimada, F.; Taira, M.; Suzuki, Y.; Hashimoto, N.; Nozaki, O.; Taira, M.; Tatibana, M.; Ebina, Y.; Tawata, M.; Onaya, T.; Makino, H.; Yoshida, S.: Insulin-resistant diabetes associated with partial deletion of insulin-receptor gene. Lancet 335: 1179-1181, 1990.
[0015936]6524.Taira, M.; Taira, M.; Hashimoto, N.; Shimada, F.; Suzuki, Y.; Kanatsuka, A.; Nakamura, F.; Ebina, Y.; Tatibana, M.; Makino, H.; Yoshida, S.: Human diabetes associated with a deletion of the tyrosine kinase domain of the insulin receptor. Science 245: 63-66, 1989.
[0015937]6525.Takahashi, Y.; Kadowaki, H.; Ando, A.; Quin, J. D.; MacCuish, A. C.; Yazaki, Y.; Akanuma, Y.; Kadowaki, T.: Two aberrant splicings caused by mutations in the insulin receptor gene in cultured lymphocytes from a patient with Rabson-Mendenhall's syndrome. J. Clin. Invest. 101: 588-594, 1998.
[0015938]6526.Taylor, S. I.; Cama, A.; Accili, D.; Barbetti, F.; Imano, E.; Kadowaki, H.; Kadowaki, T.: Genetic basis of endocrine disease 1: molecular genetics of insulin resistant diabetes mellitus. J. Clin. Endocr. Metab. 73: 1158-1163, 1991.
[0015939]6527.Taylor, S. I.; Marcus-Samuels, B.; Ryan-Young, J.; Leventhal, S.; Elders, M. J.: Genetics of the insulin receptor defect in a patient with extreme insulin resistance. J. Clin. Endocr. Metab. 62: 1130-1135, 1986.
[0015940]6528.Taylor, S. I.; Underhill, L. H.; Hedo, J. A.; Roth, J.; Serrano Rios, M.; Blizzard, R. M.: Decreased insulin binding to cultured cells from a patient with the Rabson-Mendenhall syndrome: dichotomy between studies with cultured lymphocytes and cultured fibroblasts. J. Clin. Endocr. Metab. 56: 856-861, 1983.
[0015941]6529.Tevaarwerk, G. J. M.; Strickland, K. P.; Lin, C. H.; Hudson, A. J.: Studies on insulin resistance and insulin receptor binding in myotonia dystrophica. J. Clin. Endocr. Metab. 49: 216-222, 1979.
[0015942]6530.Ullrich, A.; Bell, J. R.; Chen, E. Y.; Herrera, R.; Petruzzelli, L. M.; Dull, T. J.; Gray, A.; Coussens, L.; Liao, Y.-C.; Tsubokawa, M.; Mason, A.; Seeburg, P. H.; Grunfeld, C.; Rosen, O. M.; Ramachandran, J.: Human insulin receptor and its relationship to the tyrosine kinase family of oncogenes. Nature 313: 756-761, 1985.
[0015943]6531.van der Vorm, E. R.; Kuipers, A.; Kielkopf-Renner, S.; Krans, H. M. J.; Moller, W.; Maassen, J. A.: A mutation in the insulin receptor that impairs proreceptor processing but not insulin binding. J. Biol. Chem. 269: 14297-14302, 1994.
[0015944]6532.van der Vorm, E. R.; van der Zon, G. C. M.; Moller, W.; Krans, H. M. J.; Lindhout, D.; Maassen, J. A.: An arg for gly substitution at position 31 in the insulin receptor, linked to insulin resistance, inhibits receptor processing and transport. J. Biol. Chem. 267: 66-71, 1992.
[0015945]6533.Ward, G. M.; Harrison, L. C.: Structure of the human erythrocyte insulin receptor. Diabetes 35: 101-105, 1986.
[0015946]6534.Wertheimer, E.; Lu, S.-P.; Backeljauw, P. F.; Davenport, M. L.; Taylor, S. I.: Homozygous deletion of the human insulin receptor gene results in leprechaunism. Nature Genet. 5: 71-73, 1993.
[0015947]6535.Williams, D. L.; Look, A. T.; Melvin, S. L.; Roberson, P. K.; Dahl, G.; Flake, T.; Stass, S.: New chromosomal translocations correlate with specific immunophenotypes of childhood acute lymphoblastic leukemia. Cell 36: 101-109, 1984.
[0015948]6536.Williams, J. F.; McClain, D. A.; Dull, T. J.; Ullrich, A.; Olefsky, J. M.: Characterization of an insulin receptor mutant lacking the subunit processing site. J. Biol. Chem. 265: 8463-8469, 1990.
[0015949]6537.Yamamoto-Honda, R.; Koshio, O.; Tobe, K.; Shibasaki, Y.; Momomura, K.; Odawara, M.; Kadowaki, T.; Takaku, F.; Akanuma, Y.; Kasuga, M. : Phosphorylation state and biological function of a mutant human insulin receptor val(996). J. Biol. Chem. 265: 14777-14783, 1990.
[0015950]6538.Yang-Feng, T. L.; Francke, U.; Ullrich, A.: Gene for human insulin receptor: localization to site on chromosome 19 involved in pre-B-cell leukemia. Science 228: 728-731, 1985.
[0015951]6539.Yoshimasa, Y.; Seino, S.; Whittaker, J.; Kakehi, T.; Kosaki, A.; Kuzuya, H.; Imura, H.; Bell, G. I.; Steiner, D. F.: Insulin-resistant diabetes due to a point mutation that prevents insulin proreceptor processing. Science 240: 784-787, 1988.
[0015952]6540.Kurachi, H.; Jobo, K.; Ohta, M.; Kawasaki, T.; Itoh, N.: A new member of the insulin receptor family, insulin receptor-related receptor, is expressed preferentially in the kidney. Biochem. Biophys. Res. Commun. 187: 934-939, 1992.
[0015953]6541.Shier, P.; Watt, V. M.: Primary structure of a putative receptor for a ligand of the insulin family. J. Biol. Chem. 264: 14605-14608, 1989.
[0015954]6542.Shier, P.; Willard, H. F.; Watt, V. M.: Localization of the insulin receptor-related receptor gene to human chromosome 1. Cytogenet. Cell Genet. 54: 80-81, 1990.
[0015955]6543.Whitmore, T. E.; Maurer, M. F.; Day, H. L.; Jelmberg, A. C.; Dasovich, M. M.; Sundborg, L. M.; Burkhead, S. K.; Heipel, M. D.; Madden, K. L.; Kramer, J. M.; Kuijper, J. L.; Xu, W. F.; Jaspers, S. R.; Holly, R. D.; Lok, S.: The assignment of the human insulin receptor-related receptor gene (INSRR) to chromosome 1q21-q23 by the use of radiation hybrid mapping. Cytogenet. Cell Genet. 87: 93-94, 1999.
[0015956]6544.Erickson, J. C.; Hollopeter, G.; Palmiter, R. D.: Attenuation of the obesity syndrome of ob/ob mice by the loss of neuropeptide Y. Science 274: 1704-1706, 1996.
[0015957]6545.Lutz, C. M.; Frankel, W. N.; Richards, J. E.; Thompson, D. A.: Neuropeptide Y receptor genes on human chromosome 4q31-q32 map to conserved linkage groups on mouse chromosomes 3 and 8. Genomics 41: 498-500, 1997.
[0015958]6546.Ammar, D. A.; Eadie, D. M.; Wong, D. J.; Ma, Y.-Y.; Kolakowski, L. F., Jr.; Yang-Feng, T. L.; Thompson, D. A.: Characterization of the human type 2 neuropeptide Y receptor gene (NPY2R) and localization to the chromosome 4q region containing the type 1 neuropeptide Y receptor gene. Genomics 38: 392-398, 1996.
[0015959]6547.Gerald, C.; Walker, M. W.; Vaysse, P. J.-J.; He, C.; Branchek, T. A.; Weinshank, R. L.: Expression cloning and pharmacological characterization of a human hippocampal neuropeptide Y/peptide YY Y2 receptor subtype. J. Biol. Chem. 270: 26758-26761, 1995.
[0015960]6548.Solomon, S. D.; Geisterfer-Lowrance, A. A. T.; Vosberg, H.-P.; Hiller, G.; Jarcho, J. A.; Morton, C. C.; McBride, W. O.; Mitchell, A. L.; Bale, A. E.; McKenna, W. J.; Seidman, J. G.; Seidman, C. E. : A locus for familial hypertrophic cardiomyopathy is closely linked to the cardiac myosin heavy chain genes, CRI-L436, and CRI-L329 on chromosome 14 at q11-q12. Am. J. Hum. Genet. 47: 389-394, 1990.
[0015961]6549.Tanigawa, G.; Jarcho, J. A.; Kass, S.; Solomon, S. D.; Vosberg, H.-P.; Seidman, J. G.; Seidman, C. E.: A molecular basis for familial hypertrophic cardiomyopathy: an alpha/beta cardiac myosin heavy chain hybrid gene. Cell 62: 991-998, 1990.
[0015962]6550.Teare, D.: Asymmetrical hypertrophy of the heart in young adults. Brit. Heart J. 20: 1-8, 1958.
[0015963]6551.Weydert, A.; Daubas, P.; Lazaridis, I.; Barton, P.; Garner, I.; Leader, D. P.; Bonhomme, F.; Catalan, J.; Simon, D.; Guenet, J. L.; Gros, F.; Buckingham, M. E.: Genes for skeletal muscle myosin heavy chains are clustered and are not located on the same mouse chromosome as a cardiac myosin heavy chain gene. Proc. Nat. Acad. Sci. 82: 7183-7187, 1985.
[0015964]6552.Yamauchi-Takihara, K.; Sole, M. J.; Liew, J.; Ing, D.; Liew, C. C.: Characterization of human cardiac myosin heavy chain genes. Proc. Nat. Acad. Sci. 86: 3504-3508, 1989.
[0015965]6553.Stewart, R. J.; Pesavento, P. A.; Woerpel, D. N.; Goldstein, L. S. B.: Identification and partial characterization of six members of the kinesin superfamily in Drosophila. Proc. Nat. Acad. Sci. 88: 8470-8474, 1991.
[0015966]6554.Tihy, F.; Kress, M.; Harper, M.; Dutrillaux, B.; Lemieux, N.: Localization of the human kinesin-related gene to band 10q24 by fluorescence in situ hybridization. Genomics 13: 1371-1372, 1992.
[0015967]6555.Pasteris, N. G.; Trask, B.; Sheldon, S.; Gorski, J. L.: A chromosome deletion 2q35-36 spanning loci HuP2 and COL4A3 results in Waardenburg syndrome type III (Klein-Waardenburg syndrome). (Abstract) Am. J. Hum. Genet. 51 (suppl.): A224, 1992.
[0015968]6556.Lee, M. K.; Stirling, W.; Xu, Y.; Xu, X.; Qui, D.; Mandir, A. S.; Dawson, T. M.; Copeland, N. G.; Jenkins, N. A.; Price, D. L.: Human alpha-synuclein-harboring familial Parkinson's disease-linked ala53-to-thr mutation causes neurodegenerative disease with alpha-synuclein aggregation in transgenic mice. Proc. Nat. Acad. Sci. 99: 8968-8973, 2002.
[0015969]6557.Markopoulou, K.; Wszolek, Z. K.; Pfeiffer, R. F.: A Greek-American kindred with autosomal dominant, levodopa-responsive Parkinsonism and anticipation. Ann. Neurol. 38: 373-378, 1995.
[0015970]6558.Maroteaux, L.; Scheller, R. H.: The rat brain synucleins: family of proteins transiently associated with neuronal membrane. Molec. Brain Res. 11: 335-343, 1991.
[0015971]6559.Masliah, E.; Rockenstein, E.; Veinbergs, I.; Mallory, M.; Hashimoto, M.; Takeda, A.; Sagara, Y.; Sisk, A.; Mucke, L.: Dopaminergic loss and inclusion body formation in alpha-synuclein mice: implications for neurodegenerative disorders. Science 287: 1265-1269, 2000.
[0015972]6560.Masliah, E.; Rockenstein, E.; Veinbergs, I.; Sagara, Y.; Mallory, M.; Hashimoto, M.; Mucke, L.: Beta-amyloid peptides enhance alpha-synuclein accumulation and neuronal deficits in a transgenic mouse model linking Alzheimer's disease and Parkinson's disease. Proc. Nat. Acad. Sci. 98: 12245-12250, 2001.
[0015973]6561.Narhi, L.; Wood, S. J.; Steavenson, S.; Jiang, Y.; Wu, G. M.; Anafi, D.; Kaufman, S. A.; Martin, F.; Sitney, K.; Denis, P.; Louis, J.-C.; Wypych, J.; Biere, A. L.; Citron, M.: Both familial Parkinson's disease mutations accelerate alpha-synuclein aggregation. J. Biol. Chem. 274: 9843-9846, 1999.
[0015974]6562.Polymeropoulos, M. H.; Higgins, J. J.; Golbe, L. I.; Johnson, W. G.; Ide, S. E.; Di Iorio, G.; Sanges, G.; Stenroos, E. S.; Pho, L. T.; Schaffer, A. A.; Lazzarini, A. M.; Nussbaum, R. L.; Duvoisin, R. C.: Mapping of a gene for Parkinson's disease to chromosome 4q21-q23. Science 274: 1197-1198, 1996.
[0015975]6563.Polymeropoulos, M. H.; Lavedan, C.; Leroy, E.; Ide, S. E.; Dehejia, A.; Dutra, A.; Pike, B.; Root, H.; Rubenstein, J.; Boyer, R.; Stenroos, E. S.; Chandrasekharappa, S.; Athanassiadou, A.; Papepetropoulos, T.; Johnson, W. G.; Lazzarini, A. M.; Duvoisin, R. C.; Di Iorio, G.; Golbe, L. I.; Nussbaum, R. L.: Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science 276: 2045-2047, 1997.
[0015976]6564.Scott, W. K.; Stajich, J. M.; Yamaoka, L. H.; Speer, M. C.; Vance, J. M.; Roses, A. D.; Pericak-Vance, M. A.; Deane Laboratory Parkinson Disease Research Group: Genetic complexity and Parkinson's disease. (Letter) Science 277: 387-388, 1997.
[0015977]6565.Scott, W. K.; Yamaoka, L. H.; Stajich, J. M.; Scott, B. L.; Vance, J. M.; Roses, A. D.; Pericak-Vance, M. A.; Watts, R. L.; Nance, M.; Hubble, J.; Koller, W.; Stern, M. B.; and 15 others: The alpha-synuclein gene is not a major risk factor in familial Parkinson disease. (Letter) Neurogenetics 2: 191-192, 1999.
[0015978]6566.Shibasaki, Y.; Baillie, D. A. M.; St. Clair, D.; Brookes, A. J. : High-resolution mapping of SNCA encoding a-synuclein, the non-A-beta component of Alzheimer's disease amyloid precursor, to human chromosome 4q21.3-q22 by fluorescence in situ hybridization. Cytogenet. Cell Genet. 71: 54-55, 1995.
[0015979]6567.Shimura, H.; Schlossmacher, M. G.; Hattori, N.; Frosch, M. P.; Trockenbacher, A.; Schneider, R.; Mizuno, Y.; Kosik, K. S.; Selkoe, D. J.: Ubiquitination of a new form of alpha-synuclein by parkin from human brain: implications for Parkinson's disease. Science 293: 263-269, 2001.
[0015980]6568.Spillantini, M. G.; Divane, A.; Goedert, M.: Assignment of human alpha-synuclein (SNCA) and beta-synuclein (SNCB) genes to chromosomes 4q21 and 5q35. Genomics 27: 379-381, 1995.
[0015981]6569.Spillantini, M. G.; Schmidt, M. L.; Lee, V. M.-Y.; Trojanowski, J. Q.; Jakes, R.; Goedert, M.: Alpha-synuclein in Lewy bodies. Nature 388: 839-840, 1997.
[0015982]6570.Tabrizi, S. J.; Orth, M.; Wilkinson, J. M.; Taanman, J.-W.; Warner, T. T.; Cooper, J. M.; Schapira, A. H. V.: Expression of mutant alpha-synuclein causes increased susceptibility to dopamine toxicity. Hum. Molec. Genet. 9: 2683-2689, 2000.
[0015983]6571.Tanaka, Y.; Engelender, S.; Igarashi, S.; Rao, R. K.; Wanner, T.; Tanzi, R. E.; Sawa, A.; Dawson, V. L.; Dawson, T. M.; Ross, C. A.: Inducible expression of mutant alpha-synuclein decreases proteasome activity and increases sensitivity to mitochondria-dependent apoptosis. Hum. Molec. Genet. 10: 919-926, 2001.
[0015984]6572.Ueda, K.; Fukushima, H.; Masliah, E.; Xia, Y.; Iwai, A.; Yoshimoto, M.; Otero, D. A. C.; Kondo, J.; Ihara, Y.; Saitoh, T.: Molecular cloning of cDNA encoding an unrecognized component of amyloid in Alzheimer disease. Proc. Nat. Acad. Sci. 90: 11282-11286, 1993.
[0015985]6573.Vaughan, J. R.; Farrer, M. J.; Wszolek, Z. K.; Gasser, T.; Durr, A.; Agid, Y.; Bonifati, V.; DeMichele, G.; Volpe, G.; Lincoln, S.; Breteler, M.; Meco, G.; Brice, A.; Marsden, C. D.; Hardy, J.; Wood, N. W.; European Consortium on Genetic Susceptibility in Parkinson's Disease (GSPD): Sequencing of the alpha-synuclein gene in a large series of cases of familial Parkinson's disease fails to reveal any further mutations. Hum. Molec. Genet. 7: 751-753, 1998.
[0015986]6574.Xu, J.; Kao, S.-Y.; Lee, F. J. S.; Song, W.; Jin, L.-W.; Yankner, B. A.: Dopaminedependent neurotoxicity of alpha-synuclein: a mechanism for selective neurodegeneration in Parkinson disease. Nature Med. 8: 600-606, 2002.
[0015987]6575.Cetta, F.; Chiappetta, G.; Melillo, R. M.; Petracci, M.; Montalto, G.; Santoro, M.; Fusco, A.: The ret/ptc1 oncogene is activated in familial adenomatous polyposis-associated thyroid papillary carcinomas. J. Clin. Endocr. Metab. 83: 1003-1006, 1998.
[0015988]6576.Decker, R. A.; Peacock, M. L.; Watson, P.: Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation. Hum. Molec. Genet. 7: 129-134, 1998.
[0015989]6577.Donis-Keller, H.; Dou, S.; Chi, D.; Carlson, K. M.; Toshima, K.; Lairmore, T. C.; Howe, J. R.; Moley, J. F.; Goodfellow, P.; Wells, S. A., Jr.: Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. Hum. Molec. Genet. 2: 851-856, 1993.
[0015990]6578.Doray, B.; Salomon, R.; Amiel, J.; Pelet, A.; Touraine, R.; Billaud, M.; Attie, T.; Bachy, B.; Munnich, A.; Lyonnet, S.: Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease. Hum. Molec. Genet. 7: 1449-1452, 1998.
[0015991]6579.Edery, P.; Lyonnet, S.; Mulligan, L. M.; Pelet, A.; Dow, E.; Abel, L.; Holder, S.; Nihoul-Fekete, C.; Ponder, B. A. J.; Munnich, A.: Mutations of the RET proto-oncogene in Hirschsprung's disease. Nature 367: 378-380, 1994.
[0015992]6580.Eng, C.: The RET proto-oncogene in multiple endocrine neoplasia type 2 and Hirschsprung's disease. New Eng. J. Med. 335: 943-951, 1996.
[0015993]6581.Eng, C.; Crossey, P. A.; Mulligan, L. M.; Healey, C. S.; Houghton, C.; Prowse, A.; Chew, S. L.; Dahia, P. L. M.; O'Riordan, J. L. H.; Toledo, S. P. A.; Smith, D. P.; Maher, E. R.; Ponder, B. A. J.: Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas. J. Clin. Genet. 32: 934-937, 1995.
[0015994]6582.Eng, C.; Mulligan, L. M.: Mutations of the RET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumours, and Hirschsprung disease. Hum. Mutat. 9: 97-109, 1997.
[0015995]6583.Eng, C.; Mulligan, L. M.; Smith, D. P.; Healey, C. S.; Frilling, A.; Raue, F.; Neumann, H. P. H.; Pfragner, R.; Behmel, A.; Lorenzo, M. J.; Stonehouse, T. J.; Ponder, M. A.; Ponder, B. A. J.: Mutation of the RET protooncogene in sporadic medullary thyroid carcinoma. Genes Chromosomes Cancer 12: 209-212, 1995.
[0015996]6584.Eng, C.; Smith, D. P.; Mulligan, L. M.; Healey, C. S.; Zvelebil, M. J.; Stonehouse, T. J.; Ponder, M. A.; Jackson, C. E.; Waterfield, M. D.; Ponder, B. A. J.: A novel point mutation in the tyrosine kinase domain of the RET proto-oncogene in sporadic medullary thyroid carcinoma and in a family with FMTC. Oncogene 10: 509-513, 1995.
[0015997]6585.Eng, C.; Smith, D. P.; Mulligan, L. M.; Nagai, M. A.; Healey, C. S.; Ponder, M. A.; Gardner, E.; Scheumann, G. F. W.; Jackson, C. E.; Tunnacliffe, A.; Ponder, B. A. J.: Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumors. Hum. Molec. Genet. 3: 237-241, 1994.
[0015998]6586.Fearon, E. R.: Human cancer syndromes: clues to the origin and nature of cancer. Science 278: 1043-1050, 1997.
[0015999]6587.Fitze, G.; Schreiber, M.; Kuhlisch, E.; Schackert, H. K.; Roesner, D.: Association of RET protooncogene codon 45 polymorphism with Hirschsprung disease. (Letter) Am. J. Hum. Genet. 65: 1469-1473, 1999.
[0016000]6588.Gardner, E.; Mulligan, L. M.; Eng, C.; Healey, C. S.; Kwok, J. B. J.; Ponder, M. A.; Ponder, B. A. J.: Haplotype analysis of MEN 2 mutations. Hum. Molec. Genet. 3: 1771-1774, 1994.
[0016001]6589.Grieco, M.; Santoro, M.; Berlingieri, M. T.; Melillo, R. M.; Donghi, R.; Bongarzone, I.; Pierotti, M. A.; Della Porta, G.; Fusco, A.; Vecchio, G.: PTC is a novel rearranged form of the ret proto-oncogene and is frequently detected in vivo in human thyroid papillary carcinomas. Cell 60: 557-563, 1990.
[0016002]6590.Hofstra, R. M. W.; Landsvater, R. M.; Ceccherini, I.; Stulp, R. P.; Stelwagen, T.; Luo, Y.; Pasini, B.; Hoppener, J. W. M.; Ploos van Amstel, H. K.; Romeo, G.; Lips, C. J. M.; Buys, C. H. C. M.: A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. Nature 367: 375-376, 1994.
[0016003]6591.Hoppener, J. W. M.; Lips, C. J. M.: RET receptor tyrosine kinase gene mutations: molecular biological, physiological and clinical aspects. Europ. J. Clin. Invest. 26: 613-624, 1996.
[0016004]6592.Hoppner, W.; Ritter, M. M.: A duplication of 12 bp in the critical cysteine rich domain of the RET proto-oncogene results in a distinct phenotype of multiple endocrine neoplasia type 2A. Hum. Molec. Genet. 6: 587-590, 1997.
[0016005]6593.Ikeda, I.; Ishizaka, Y.; Tahira, T.; Suzuki, T.; Onda, M.; Sugimura, T.; Nagao, M.: Specific expression of the ret proto-oncogene in human neuroblastoma cell lines. Oncogene 5: 1291-1296, 1990.
[0016006]6594.Ishizaka, Y.; Itoh, F.; Tahira, T.; Ikeda, I.; Sugimura, T.; Tucker, J.; Fertitta, A.; Carrano, A. V.; Nagao, M.: Human ret proto-oncogene mapped to chromosome 10q11.2. Oncogene 4: 1519-1521, 1989.
[0016007]6595.Japon, M. A.; Urbano, A. G.; Saez, C.; Segura, D. I.; Cerro, A. L.; Dieguez, C.; Alvarez, C. V.: Glial-derived neurotropic factor and RET gene expression in normal human anterior pituitary cell types and in pituitary tumors. J. Clin. Endocr. Metab. 87: 1879-1884, 2002.
[0016008]6596.Julies, M. G.; Moore, S. W.; Kotze, M. J.; du Plessis, L.: Novel RET mutations in Hirschsprung's disease patients from the diverse South African population. Europ. J. Hum. Genet. 9: 419-423, 2001.
[0016009]6597.Klugbauer, S.; Demidchik, E. P.; Lengfelder, E.; Rabes, H. M. : Detection of a novel type of RET rearrangement (PTC5) in thyroid carcinomas after Chernobyl and analysis of the involved RET-fused gene RFG5. Cancer Res. 58: 198-203, 1998.
[0016010]6598.Shapiro, J. R.; Stover, M. L.; Burn, V. E.; McKinstry, M. B.; Burshell, A. L.; Chipman, S. D.; Rowe, D. W.: An osteopenic nonfracture syndrome with features of mild osteogenesis imperfecta associated with the substitution of a cysteine for glycine at triple helix position 43 in the pro-alpha-1(I) chain of type I collagen. J. Clin. Invest. 89: 567-573, 1992.
[0016011]6599.Steinmann, B.; Nicholls, A.; Pope, F. M.: Clinical variability of osteogenesis imperfecta reflecting molecular heterogeneity: cysteine substitutions in the alpha-1(I) collagen chain producing lethal and mild forms. J. Biol. Chem. 261: 8958-8964, 1986.
[0016012]6600.de Oca Luna, R. M.; Tabor, A. D.; Eberspaecher, H.; Hulboy, D. L.; Worth, L. L.; Colman, M. S.; Finlay, C. A.; Lozano, G.: The organization and expression of the mdm2 gene. Genomics 33: 352-357, 1996.
[0016013]6601.Watson, C. E.; Draganov, D. I.; Billecke, S. S.; Bisgaier, C. L.; La Du, B. N.: Rabbits possess a serum paraoxonase polymorphism similar to the human Q192R. Pharmacogenetics 11: 123-134, 2001.
[0016014]6602.Mornet, E.: Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene. Hum. Mutat. 15: 309-315, 2000.
[0016015]6603.Rajput, B.; Marshall, A.; Killary, A. M.; Lalley, P. A.; Naylor, S. L.; Belin, D.; Rickles, R. J.; Strickland, S.: Chromosomal assignments of genes for tissue plasminogen activator and urokinase in mouse. Somat. Cell Molec. Genet. 13: 581-586, 1987.
[0016016]6604.Giardiello, F. M.; Petersen, G. M.; Piantadosi, S.; Gruber, S. B.; Traboulsi, E. I.; Offerhaus, G. J. A.; Muro, K.; Krush, A. J.; Booker, S. V.; Luce, M. C.; Laken, S. J.; Kinzler, K. W.; Vogelstein, B.; Hamilton, S. R.: APC gene mutations and extraintestinal phenotype of familial adenomatous polyposis. Gut 40: 521-525, 1997.
[0016017]6605.Yamasaki, Y.; Sakamoto, K.; Watada, H.; Kajimoto, Y.; Hori, M. : The arg-192 isoform of paraoxonase with low sarin-hydrolyzing activity is dominant in the Japanese. Hum. Genet. 101: 67-68, 1997.
[0016018]6606.Mornet, E.; Taillandier, A.; Peyramaure, S.; Kaper, F.; Muller, F.; Brenner, R.; Bussiere, P.; Freisinger, P.; Godard, J.; Le Merrer, M.; Oury, J. F.; Plauchu, H.; Puddu, R.; Rival, J. M.; Superti-Furga, A.; Touraine, R. L.; Serre, J. L.; Simon-Bouy, B.: Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia. Europ. J. Hum. Genet. 6: 308-314, 1998.
[0016019]6607.Orimo, H.; Hayashi, Z.; Watanabe, A.; Hirayama, T.; Hirayama, T.; Shimada, T.: Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia. Hum. Molec. Genet. 3: 1683-1684, 1994.
[0016020]6608.Ozono, K.; Yamagata, M.; Michigami, T.; Nakajima, S.; Sakai, N.; Cai, G.; Satomura, K.; Yasui, N.; Okada, S.; Nakayama, M.: Identification of novel missense mutations (phe310leu and gly439arg) in a neonatal case of hypophosphatasia. J. Clin. Endocr. Metab. 81: 4458-4461, 1996.
[0016021]6609.Sergi, C.; Mornet, E.; Troeger, J.; Voigtlaender, T.: Perinatal hypophosphatasia: radiology, pathology and molecular biology studies in a family harboring a splicing mutation (648+1A) and a novel missense mutation (N400S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. Am. J. Med. Genet. 103: 235-240, 2001.
[0016022]6610.Smith, M.; Weiss, M. J.; Griffin, C. A.; Murray, J. C.; Buetow, K. H.; Emanuel, B. S.; Henthorn, P. S.; Harris, H.: Regional assignment of the gene for human liver/bone/kidney alkaline phosphatase to chromosome 1p36.1-p34. Genomics 2: 139-143, 1988.
[0016023]6611.Swallow, D. M.; Povey, S.; Parkar, M.; Andrews, P. W.; Harris, H.; Pym, B.; Goodfellow, P.: Mapping of the gene coding for the human liver/bone/kidney isozyme of alkaline phosphatase to chromosome 1. Ann. Hum. Genet. 50: 229-235, 1986.
[0016024]6612.Waymire, K. G.; Mahuren, J. D.; Jaje, J. M.; Guilarte, T. R.; Coburn, S. P.; MacGregor, G. R.: Mice lacking tissue non-specific alkaline phosphatase die from seizures due to defective metabolism of vitamin B-6. Nature Genet. 11: 45-51, 1995.
[0016025]6613.Weiss, M.; Smith, M.; Griffin, C.; Nussbaum, R.; Murray, J.; Emanuel, B.; Harris, H.: Assignment of the gene encoding the liver/bone/kidney form of alkaline phosphatase ALPL to the region 1p34-p36.1. (Abstract) Cytogenet. Cell Genet. 46: 714 only, 1987.
[0016026]6614.Weiss, M. J.; Cole, D. E. C.; Ray, K.; Whyte, M. P.; Lafferty, M. A.; Mulivor, R. A.; Harris, H.: A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia. Proc. Nat. Acad. Sci. 85: 7666-7669, 1988.
[0016027]6615.Weiss, M. J.; Henthorn, P. S.; Lafferty, M. A.; Slaughter, C.; Raducha, M.; Harris, H.: Isolation and characterization of a cDNA encoding a human liver/bone/kidney-type alkaline phosphatase. Proc. Nat. Acad. Sci. 83: 7182-7186, 1986.
[0016028]6616.Weiss, M. J.; Ray, K.; Henthorn, P. S.; Lamb, B.; Kadesch, T.; Harris, H.: Structure of the human liver/bone/kidney alkaline phosphatase gene. J. Biol. Chem. 263: 12002-12010, 1988.
[0016029]6617.Weiss, M. J.; Spielman, R. S.; Harris, H.: A high-frequency RFLP at the human liver/bone/kidney-type alkaline phosphatase locus. Nucleic Acids Res. 15: 860 only, 1987.
[0016030]6618.Zurutuza, L.; Muller, F.; Gibrat, J. F.; Taillandier, A.; Simon-Bouy, B.; Serre, J. L.; Mornet, E.: Correlations of genotype and phenotype in hypophosphatasia. Hum. Molec. Genet. 8: 1039-1046, 1999.
[0016031]6619.Whyte, M. P.; Mahuren, J. D.; Fedde, K. N.; Cole, F. S.; McCabe, E. R.; Coburn, S. P.: Perinatal hypophosphatasia: tissue levels of vitamin B-6 are unremarkable despite markedly increased circulating concentrations of pyridoxal-5-prime-phosphate: evidence for an ectoenzyme role for tissuenonspecific alkaline phosphatase. J. Clin. Invest. 81: 1234-1239, 1988.
[0016032]6620.Badger, K. S.; Sussman, H. H.: Structural evidence that human liver and placental alkaline phosphatase isoenzymes are coded by different genes. Proc. Nat. Acad. Sci. 73: 2201-2205, 1976.
[0016033]6621.Beckman, L.; Beckman, G.; Christodoulou, C.; Ifekwunigwe, A.: Variations in human placental alkaline phosphatase. Acta Genet. Statist. Med. 17: 406-412, 1967.
[0016034]6622.Beckman, L.; Bjorling, G.; Christodoulou, C.: Pregnancy enzymes and placental polymorphism: alkaline phosphatase. Acta Genet. Statist. Med. 16: 59-73, 1966.
[0016035]6623.Boyer, S. H.: Alkaline phosphatase in human sera and placenta. Science 134: 1002-1004, 1961.
[0016036]6624.Giardiello, F. M.; Yang, V. W.; Hylind, L. M.; Krush, A. J.; Petersen, G. M.; Trimbath, J. D.; Piantadosi, S.; Garrett, E.; Geiman, D. E.; Hubbard, W.; Offerhaus, G. J. A.; Hamilton, S. R.: Primary chemoprevention of familial adenomatous polyposis with sulindac. New Eng. J. Med. 346: 1054-1059, 2002.
[0016037]6625.Giovannucci, E.; Rimm, E. B.; Stampfer, M. J.; Colditz, G. A.; Ascherio, A.; Willett, W. C.: Aspirin use and the risk for colorectal cancer and adenoma in male health professionals. Ann. Intern. Med. 121: 241-246, 1994.
[0016038]6626.Gorlin, R. J.; Chaudhry, A. P.: Multiple osteomatosis, fibromas, lipomas and fibrosarcomas of the skin and mesentery, epidermoid inclusion cysts of the skin, leiomyomas and multiple intestinal polyposis: an heritable disorder of connective tissue. New Eng. J. Med. 263: 1151-1158, 1960.
[0016039]6627.Goss, K. H.; Trzepacz, C.; Tuohy, T. M. F.; Groden, J.: Attenuated APC alleles produce functional protein from internal translation initiation. Proc. Nat. Acad. Sci. 99: 8161-8166, 2002.
[0016040]6628.Greer, J. A., Jr.; Devine, K. D.; Dahlin, D. C.: Gardner's syndrome and chondrosarcoma of the hyoid bone. Arch. Otolaryng. 103: 425-427, 1977.
[0016041]6629.Gruber, S. B.; Petersen, G. M.; Kinzler, K. W.; Vogelstein, B. : Cancer, crash sites, and the new genetics of neoplasia. (Editorial) Gastroenterology 116: 210-212, 1999.
[0016042]6630.Gryfe, R.; Di Nicola, N.; Gallinger, S.; Redston, M.: Somatic instability of the APC I1307K allele in colorectal neoplasia. Cancer Res. 58: 4040-4043, 1998.
[0016043]6631.Gryfe, R.; Di Nicola, N.; Lal, G.; Gallinger, S.; Redston, M. : Inherited colorectal polyposis and cancer risk of the APC I1307K polymorphism. Am. J. Hum. Genet. 64: 378-384, 1999.
[0016044]6632.Haggitt, R. C.; Booth, J. L.: Bilateral fibromatosis of the breast in Gardner's syndrome. Cancer 25: 161-166, 1970.
[0016045]6633.Halberg, R. B.; Katzung, D. S.; Hoff, P. D.; Moser, A. R.; Cole, C. E.; Lubet, R. A.; Donehower, L. A.; Jacoby, R. F.; Dove, W. F. : Tumorigenesis in the multiple intestinal neoplasia mouse: redundancy of negative regulators and specificity of modifiers. Proc. Nat. Acad. Sci. 97: 3461-3466, 2000.
[0016046]6634.Halling, K. C.; Lazzaro, C. R.; Honchel, R.; Bufill, J. A.; Powell, S. M.; Arndt, C. A. S.; Lindor, N. M.: Hereditary desmoid disease in a family with a germline AluI repeat mutation of the APC gene. Hum. Hered. 49: 97-102, 1999.
[0016047]6635.Hampton, G. M.; Ward, J. R. T. J.; Cottrell, S.; Howe, K.; Thomas, H. J. W.; Ballhausen, W. G.; Jones, T.; Sheer, D.; Solomon, E.; Frischauf, A.-M.; Bodmer, W. F.: Yeast artificial chromosomes for the molecular analysis of the familial polyposis APC gene region. Proc. Nat. Acad. Sci. 89: 8249-8253, 1992. 100. Hardwick, J. C. H.; van den Brink, G. R.; Offerhaus, G. J.; van Deventer, S. J. H.; Peppelenbosch, M. P.: NF-kappaB, p38 MAPK and JNK are highly expressed and active in the stroma of human colonic adenomatous polyps. Oncogene 20: 819-827, 2001. 101. Harned, R. K.; Williams, S. M.: Familial polyposis coli and periampullary malignancy. Dis. Colon Rectum 25: 227-229, 1982. 102. He, T.-C.; Sparks, A. B.; Rago, C.; Hermeking, H.; Zawel, L.; da Costa, L. T.; Morin, P. J.; Vogelstein, B.; Kinzler, K. W.: Identification of c-MYC as a target of the APC pathway. Science 281: 1509-1512, 1998. 103. Heimann, A.; White, P. F.; Riely, C. A.; Ritchey, A. K.; Flye, M. W.; Barwick, K. W.: Hepatoblastoma presenting as isosexual precocity: the clinical importance of histologic and serologic parameters. J. Clin. Gastroent. 9: 105-110, 1987. 104. Herrera, L.; Kakati, S.; Gibas, L.; Pietrzak, E.; Sandberg, A. A.: Gardner syndrome in a man with an interstitial deletion of 5q. Am. J. Med. Genet. 25: 473-476, 1986. 105. Herrmann, C.; Block, C.; Geisen, C.; Haas, K.; Weber, C.; Winde, G.; Moroy, T.; Muller, O.: Sulindac sulfide inhibits Ras signaling. Oncogene 17: 1769-1776, 1998. 106. Herve, R.; Farret, O.; Mayaudon, H.; Helie, C.; Denee, J. M.; Bauduceau, B.; Molinie, C.: Association syndrome de Gardner et carcinome thyroidien. (Letter) Presse Med. 24: 415 only, 1995. 107. Hockey, K. A.; Mulcahy, M. T.; Montgomery, P.; Levitt, S.: Deletion of chromosome 5q and familial adenomatous polyposis. J. Med. Genet. 26: 61-62, 1989. 108. Hodgson, S. V.; Coonar, A. S.; Hanson, P. J. V.; Cottrell, S.; Scriven, P. N.; Jones, T.; Hawley, P. R.; Wilkinson, M. L.: Two cases of 5q deletions in patients with familial adenomatous polyposis: possible link with Caroli's disease. J. Med. Genet. 30: 369-375, 1993. 109. Hodgson, S. V.; Fagg, N. L. K.; Talbot, I. C.; Wilkinson, M. : Deletions of the entire APC gene are associated with sessile colonic adenomas. (Letter) J. Med. Genet. 31: 426 only, 1994. 110. Hoffmann, D. C.; Brooke, B. N.: Familial sarcoma of bone in a polyposis coli family. Dis. Colon Rectum 13: 119-120, 1970. 111. Homfray, T. F. R.; Cottrell, S. E.; Ilyas, M.; Rowan, A.; Talbot, I. C.; Bodmer, W. F.; Tomlinson, I. P. M.: Defects in mismatch repair occur after APC mutations in the pathogenesis of sporadic colorectal tumours. Hum. Mutat. 11: 114-120, 1998. 112. Horii, A.; Nakatsuru, S.; Ichii, S.; Nagase, H.; Nakamura, Y. : Multiple forms of the APC gene transcripts and their tissue-specific expression. Hum. Molec. Genet. 2: 283-287, 1993. 113. Horii, A.; Nakatsuru, S.; Miyoshi, Y.; Ichii, S.; Nagase, H.; Kato, Y.; Yanagisawa, A.; Nakamura, Y.: The APC gene, responsible for familial adenomatous polyposis, is mutated in human gastric cancer. Cancer Res. 52: 3231-3233, 1992. 114. Houlston, R.; Crabtree, M.; Phillips, R.; Crabtree, M.; Tomlinson, I.: Explaining differences in the severity of familial adenomatous polyposis and the search for modifier genes. Gut 48: 1-5, 2001. 115. Houlston, R. S.; Fallon, T.; Harocopos, C.; Williams, C. B.; Davey, C.; Slack, J.: Congenital hypertrophy of retinal pigment epithelium in patients with colonic polyps associated with cancer family syndrome. Clin. Genet. 42: 16-18, 1992. 116. Hsu, S. H.; Luk, G. D.; Krush, A. J.; Hamilton, S. R.; Hoover, H. H., Jr.: Multiclonal origin of polyps in Gardner syndrome. Science 221: 951-953, 1983. 117. Huang, H.; Mahler-Araujo, B. M.; Sankila, A.; Chimelli, L.; Yonekawa, Y.; Kleihues, P.; Ohgaki, H.: APC mutations in sporadic medulloblastomas. Am. J. Path. 156: 433-437, 2000. 118. Hughes, L. J.; Michels, V. V.: Risk of hepatoblastoma in familial adenomatous polyposis. Am. J. Med. Genet. 43: 1023-1025, 1992. 119. Hyson, E. A.; Burrell, M.: Familial gastric polyposis (cont.) (Letter) New Eng. J. Med. 295: 905 only, 1976. 120. Iida, M.; Yao, T.; Itoh, H.; Watanabe, H.; Matsui, T.; Iwashita, A.; Fujishima, M.: Natural history of gastric adenomas in patients with familial adenomatosis coli/Gardner's syndrome. Cancer 61: 605-611, 1988. 121. Ingram, J. T.; Oldfield, M. C.: Hereditary sebaceous cysts. Brit. Med. J. 1: 960-963, 1937. 122. Jagelman, D. G.; DeCosse, J. J.; Bussey, H. J. R.; the Leeds Castle Polyposis Group: Upper gastrointestinal cancer in familial adenomatous polyposis. Lancet I: 1149-1151, 1988. 123. Jarvinen, H. J.; Peltokallio, P.; Landtman, M.; Wolf, J.: Gardner's stigmas in patients with familial adenomatosis coli. Brit. J. Surg. 69: 718-721, 1982. 124. Jones, T. R.; Nance, F. C.: Periampullary malignancy in Gardner's syndrome. Ann. Surg. 185: 565-573, 1977. 125. Joslyn, G.; Carlson, M.; Thliveris, A.; Albertsen, H.; Gelbert, L.; Samowitz, W.; Groden, J.; Stevens, J.; Spirio, L.; Robertson, M.; Sargeant, L.; Krapcho, K.; Wolff, E.; Burt, R.; Hughes, J. P.; Warrington, J.; McPherson, J.; Wasmuth, J.; Le Paslier, D.; Abderrahim, H.; Cohen, D.; Leppert, M.; White, R.: Identification of deletion mutations and three new genes at the familial polyposis locus. Cell 66: 601-613, 1991. 126. Kaplan, J.; Cushing, B.; Chang, C.-H.; Poland, R.; Roscamp, J.; Perrin, E.; Bhaya, N.: Familial T-cell lymphoblastic lymphoma: association with von Recklinghausen neurofibromatosis and Gardner syndrome. Am. J. Hemat. 12: 247-250, 1982. 127. Kaplan, K. B.; Burds, A. A.; Swedlow, J. R.; Bekir, S. S.; Sorger, P. K.; Nathke, I. S.: A role for the adenomatous polyposis coli protein in chromosome segregation. Nature Cell Biol. 3: 492-432, 2001. 128. Kartheuser, A.; Walon, C.; West, S.; Breukel, C.; Detry, R.; Gribomont, A.-C.; Hamzehloei, T.; Hoang, P.; Maiter, D.; Pringot, J.; Rahier, J.; Khan, P. M.; Curtis, A.; Burn, J.; Fodde, R.; Verellen-Dumoulin, C.: Familial adenomatous polyposis associated with multiple adrenal adenomas in a patient with a rare 3-prime APC mutation. J. Med. Genet. 36: 65-67, 1999. 129. Kassirer, J. P.: What role for nurse practitioner in primary care? (Editorial) New Eng. J. Med. 330: 204-205, 1994. 130. Kasukawa, T.; Watanabe, T.; Endo, A.: Absence of heteromorphism of chromosome number 2 homologues in patients with hereditary adenomatosis of the colon and rectum. Cancer Genet. Cytogenet. 9: 283-295, 1983. 131. Kawasaki, Y.; Senda, T.; Ishidata, T.; Koyama, R.; Morishita, T.; Iwayama, Y.; Higuchi, O.; Akiyama, T.: Asef, a link between the tumor suppressor APC and G-protein signaling. Science 289: 1194-1197, 2000. 132. Kelly, P. B.; McKinnon, D. A.: Familial multiple polyposis of the colon: review and description of a large kindred. McGill Med. J. 30: 67-85, 1961. 133. Kingston, J. E.; Draper, G. J.; Mann, J. R.: Hepatoblastoma and polyposis coli. (Letter) Lancet I: 457 only, 1982. 134. Kinzler, K. W.: Personal Communication. Baltimore, Md. 9/30/1991. 135. Kinzler, K. W.; Nilbert, M. C.; Su, L.-K.; Vogelstein, B.; Bryan, T. M.; Levy, D. B.; Smith, K. J.; Preisinger, A. C.; Hedge, P.; McKechnie, D.; Finniear, R.; Markham, A.; Groffen, J.; Boguski, M. S.; Altschul, S. F.; Horii, A.; Ando, H.; Miyoshi, Y.; Miki, Y.; Nishisho, I.; Nakamura, Y.: Identification of FAP locus genes from chromosome 5q21. Science 253: 661-665, 1991. 136. Kinzler, K. W.; Vogelstein, B.: Lessons from hereditary colorectal cancer. Cell 87: 159-170, 1996. 137. Klemmer, S.; Pascoe, L.; DeCosse, J.: Occurrence of desmoids in patients with familial adenomatous polyposis of the colon. Am. J. Med. Genet. 28: 385-392, 1987. 138. Kobayashi, T.; Narahara, K.; Yokoyama, Y.; Ueyama, S.; Mohri, O.; Fujii, T.; Fujimoto, M.; Ohtsuki, S.; Tsuji, K.; Seino, Y.: Gardner syndrome in a boy with interstitial deletion of the long arm of chromosome 5. Am. J. Med. Genet. 41: 460-463, 1991. 139. Krush, A. J.: Personal Communication. Baltimore, Md. 4/1/1988. 140. Krush, A. J.; Traboulsi, E. I.; Offerhaus, G. J. A.; Maumenee, I. H.; Yardley, J. H.; Levin, L. S.: Hepatoblastoma, pigmented ocular fundus lesions and jaw lesions in Gardner syndrome. Am. J. Med. Genet. 29: 323-332, 1988. 141. Laken, S. J.; Papadopoulos, N.; Petersen, G. M.; Gruber, S. B.; Hamilton, S. R.; Giardiello, F. M.; Brensinger, J. D.; Vogelstein, B.; Kinzler, K. W.: Analysis of masked mutations in familial adenomatous polyposis. Proc. Nat. Acad. Sci. 96: 2322-2326, 1999. 142. Laken, S. J.; Petersen, G. M.; Gruber, S. B.; Oddoux, C.; Ostrer, H.; Giardiello, F. M.; Hamilton, S. R.; Hampel, H.; Markowitz, A.; Klimstra, D.; Jhanwar, S.; Winawer, S.; Offit, K.; Luce, M. C.; Kinzler, K. W.; Vogelstein, B.: Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. Nature Genet. 17: 79-83, 1997. 143. Lal, G.; Ash, C.; Hay, K.; Redston, M.; Kwong, E.; Hancock, B.; Mak, T.; Kargman, S.; Evans, J. F.; Gallinger, S.: Suppression of intestinal polyps in Msh2-deficient and non-Msh2-deficient multiple intestinal neoplasia mice by a specific cyclooxygenase-2 inhibitor and by a dual cyclooxygenase-1/2 inhibitor. Cancer Res. 61: 6131-6136, 2001. 144. Lambertz, S.; Ballhausen, W. G.: Identification of an alternative 5-prime untranslated region of the adenomatous polyposis coli gene. Hum. Genet. 90: 650-652, 1993. 145. Lamlum, H.; Al Tassan, N.; Jaeger, E.; Frayling, I.; Sieber, O.; Bin Reza, F.; Eckert, M.; Rowan, A.; Barclay, E.; Atkin, W.; Williams, C.; Gilbert, J.; Cheadle, J.; Bell, J.; Houlston, R.; Bodmer, W.; Sampson, J.; Tomlinson, I.: Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q. Hum. Molec. Genet. 9: 2215-2221, 2000. 146. Lamlum, H.; Ilyas, M.; Rowan, A.; Clark, S.; Johnson, V.; Bell, J.; Frayling, I.; Efstathiou, J.; Pack, K.; Payne, S.; Roylance, R.; Gorman, P.; Sheer, D.; Neale, K.; Phillips, R.; Talbot, I.; Bodmer, W.; Tomlinson, I.: The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: a new facet of Knudson's 'two-hit' hypothesis. Nature Med. 5: 1071-1075, 1999. 147. Lander, E.: Personal Communication. Cambridge, Mass. 10/1991. 148. Leffall, L. D.; Chung, E. B.; Dewitty, R. L.; Cornwell, E. E.; Blakey, T. M.: Familial polyposis coli in Black patients. Ann. Surg. 186: 324-333, 1977. 149. Leppard, B.; Bussey, H. J. R.: Epidermoid cysts, polyposis coli and Gardner's syndrome. Brit. J. Surg. 62: 387-393, 1975. 150. Leppert, M.; Burt, R.; Hughes, J. P.; Samowitz, W.; Nakamura, Y.; Woodward, S.; Gardner, E.; Lalouel, J.-M.; White, R.: Genetic analysis of an inherited predisposition to colon cancer in a family with a variable number of adenomatous polyps. New Eng. J. Med. 322: 904-908, 1990. 151. Leppert, M.; Dobbs, M.; Scambler, P.; O'Connell, P.; Nakamura, Y.; Stauffer, D.; Woodward, S.; Burt, R.; Hughes, J.; Gardner, E.; Lathrop, M.; Wasmuth, J.; Lalouel, J.-M.; White, R.: The gene for familial polyposis coli maps to the long arm of chromosome 5. Science 238: 1411-1413, 1987. 152. Leppert, M.; Dobbs, M.; Scambler, P.; O'Connell, P.; Nakamura, Y.; Stauffer, D.; Woodward, S.; Burt, R.; Hughes, J. P.; Gardner, E.; Lathrop, M.; Wasmuth, J.; Lalouel, J. M.; White, R.: The gene for familial polyposis maps to the long arm of chromosome 5. (Abstract) Cytogenet. Cell Genet. 46: 647 only, 1987. 153. Lewis, R. A.; Crowder, W. E.; Eierman, L. A.; Nussbaum, R. L.; Ferrell, R. E.: The Gardner syndrome: significance of ocular features. Ophthalmology 91: 916-925, 1984. 154. Lewis, R. J.; Mitchell, J. C.: Basal cell carcinoma in Gardner's syndrome. Acta Derm. Venerol. 51: 67-68, 1971. 155. Li, F. P.; Thurber, W. A.; Seddon, J.; Holmes, G. E.: Hepatoblastoma in families with polyposis coli. J.A.M.A. 257: 2475-2477, 1987. 156. Lindgren, V.; Bryke, C. R.; Ozcelik, T.; Yang-Feng, T. L.; Francke, U.: Phenotypic, cytogenetic, and molecular studies of three patients with constitutional deletions of chromosome 5 in the region of the gene for familial adenomatous polyposis. Am. J. Hum. Genet. 50: 988-997, 1992. 157. Luk, G. D.; Baylin, S. B.: Ornithine decarboxylase as a biologic marker in familial colonic polyposis. New Eng. J. Med. 311: 80-83, 1984. 158. Luongo, C.; Gould, K. A.; Su, L.-K.; Kinzler, K. W.; Vogelstein, B.; Dietrich, W.; Lander, E. S.; Moser, A. R.: Mapping of multiple intestinal neoplasia (Min) to proximal chromosome 18 of the mouse. Genomics 15: 3-8, 1993. 159. Lynch, H. T.: Desmoid tumors: genotype-phenotype differences in familial adenomatous polyposis: a nosological dilemma. (Editorial) Am. J. Hum. Genet. 59: 1184-1185, 1996. 160. Lynch, H. T.; Smyrk, T. C.: Classification of familial adenomatous polyposis: a diagnostic nightmare. (Editorial) Am. J. Hum. Genet. 62: 1288-1289, 1998. 161. Lynch, H. T.; Smyrk, T. C.; Watson, P.; Lanspa, S. J.; Lynch, P. M.; Jenkins, J. X.; Rouse, J.; Cavalieri, J.; Howard, L.; Lynch, J.: Hereditary flat adenoma syndrome: a variant of familial adenomatous polyposis? Dis. Colon Rectum 35: 411-421, 1992. 162. Lyons, L. A.; Lewis, R. A.; Strong, L. C.; Zuckerbrod, S.; Ferrell, R. E.: A genetic study of Gardner syndrome and congenital hypertrophy of the retinal pigment epithelium. Am. J. Hum. Genet. 42: 290-296, 1988. 163. MacDonald, J. M.; Davis, W. C.; Crago, H. R.; Berk, A. D.: Gardner's syndrome and periampullary malignancy. Am. J. Surg. 113: 425-430, 1967. 164. Maher, E. R.; Barton, D. E.; Slatter, R.; Koch, D. J.; Jones, M. H.; Nagase, H.; Payne, S. J.; Charles, S. J.; Moore, A. T.; Nakamura, Y.; Ferguson-Smith, M. A.: Evaluation of molecular genetic diagnosis in the management of familial adenomatous polyposis coli: a population based study. J. Med. Genet. 30: 675-678, 1993. 165. Maher, E. R.; Morson, B.; Beach, R.; Hodgson, S. V.: Phenotypic variation in hereditary nonpolyposis colon cancer syndrome: association with infiltrative fibromatosis (desmoid tumor). Cancer 69: 2049-2051, 1992. 166. Mahmoud, N. N.; Bilinski, R. T.; Churchill, M. R.; Edelmann, W.; Kucherlapati, R.; Bertagnolli, M. M.: Genotype-phenotype correlation in murine Apc mutation: differences in enterocyte migration and response to sulindac. Cancer Res. 59: 353-359, 1999. 167. Mahmoud, N. N.; Boolbol, S. K.; Bilinski, R. T.; Martucci, C. M.; Chadburn, A.; Bertagnolli, M. M.: Apc gene mutation is associated with a dominant-negative effect upon intestinal cell migration. Cancer Res. 57: 5045-5050, 1997. 168. Marcus, A. J.: Aspirin as prophylaxis against colorectal cancer. New. Eng. J. Med. 333: 656-658, 1995. 169. Marshall, B.; Isidro, G.; Carvalhas, R.; Boavida, M. G.: Germline versus somatic mutations of the APC gene: evidence for mechanistic differences. (Letter) Hum. Mutat. 9: 286-288, 1997. 170. Marshall, W. H.; Martin, F. I. R.; MacKay, I. R.: Gardner's syndrome with adrenal carcinoma. Aust. Ann. Med. 16: 242-244, 1967. 171. Martin-Denavit, T.; Duthel, S.; Giraud, S.; Olschwang, S.; Saurin, J. C.; Plauchu, H.: Phenotype variability of two FAP families with an identical APC germline mutation at codon 1465: a potential modifier effect? Clin. Genet. 60: 125-131, 2001. 172. Matsumine, A.; Ogai, A.; Senda, T.; Okumura, N.; Satoh, K.; Baeg, G.-H.; Kawahara, T.; Kobayashi, S.; Okada, M.; Toyoshima, K.; Akiyama, T.: Binding of APC to the human homolog of the Drosophila discs large tumor suppressor protein. Science 272: 1020-1023, 1996. 173. Matsumoto, T.; Iida, M.; Mizuno, M.; Nakamura, S.; Hizawa, K.; Yao, T.: Serrated adenoma in familial adenomatous polyposis: relation to germline APC gene mutation. Gut 50: 402-404, 2002. 174. Maule, W. F.: Screening for colorectal cancer by nurse endoscopists. New Eng. J. Med. 330: 183-187, 1994. 175. McKusick, V. A.: Genetic factors in intestinal polyposis. J.A.M.A. 182: 271-277, 1962. 176. Meera Khan, P.; Tops, C. M. J.; van den Broek, M.; Breukel, C.; Wijnen, J. T.; Oldenburg, M.; v.d. Bos, J.; van Leeuwen-Cornelisse, I. S. J.; Vasen, H. F. A.; Griffioen, G.; Verspaget, H. M.; den Hartog Jager, F. C. A.; Lamers, C. B. H. W.: Close linkage of a highly polymorphic marker (D5S37) to familial adenomatous polyposis (FAP) and confirmation of FAP localization on chromosome 5q21-q22. Hum. Genet. 79: 183-185, 1988. 177. Middleton, S. B.; Frayling, I. M.; Phillips, R. K. S.: Desmoids in familial adenomatous polyposis are monoclonal proliferations. Brit. J. Cancer 82: 827-832, 2000. 178. Midgley, C. A.; White, S.; Howitt, R.; Save, V.; Dunlop, M. G.; Hall, P. A.; Lane, D. P.; Wyllie, A. H.; Bubb, V. J.: APC expression in normal human tissues. J. Path. 181: 426-433, 1997. 179. Miyashiro, I.; Senda, T.; Matsumine, A.; Baeg, G.-H.; Kuroda, T.; Shimano, T.; Miura, S.; Noda, T.; Kobayashi, S.; Monden, M.; Toyoshima, K.; Akiyama, T.: Subcellular localization of the APC protein: immunoelectron microscopic study of the association of the APC protein with catenin. Oncogene 11: 89-96, 1995. 180. Miyoshi, Y.; Ando, H.; Nagase, H.; Nishisho, I.; Horii, A.; Miki, Y.; Mori, T.; Utsunomiya, J.; Baba, S.; Petersen, G.; Hamilton, S. R.; Kinzler, K. W.; Vogelstein, B.; Nakamura, Y.: Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients. Proc. Nat. Acad. Sci. 89: 4452-4456, 1992. 181. Miyoshi, Y.; Nagase, H.; Ando, H.; Horii, A.; Ichii, S.; Nakatsuru, S.; Aoki, T.; Miki, Y.; Mori, T.; Nakamura, Y.: Somatic mutations of the APC gene in colorectal tumors: mutation cluster region in the APC gene. Hum. Molec. Genet. 1: 229-233, 1992. 182. Morton, D. G.; Macdonald, F.; Cachon-Gonzales, M. B.; Rindl, P. M.; Neoptolemos, J. P.; Keighley, M. R. B.; Delhanty, J. D. A.; McKeown, C. M.; Kilpatrick, M.; Hulten, M. A.: The use of DNA from paraffin wax preserved tissue for predictive diagnosis in familial adenomatous polyposis. J. Med. Genet. 29: 571-573, 1992. 183. Moser, A. R.; Mattes, E. M.; Dove, W. F.; Lindstrom, M. J.; Haag, J. D.; Gould, M. N.: Apc(Min), a mutation in the murine Apc gene, predisposes to mammary carcinomas and focal alveolar hyperplasias. Proc. Nat. Acad. Sci. 90: 8977-8981, 1993. 184. Murphy, E. A.; Krush, A. J.; Dietz, M.; Rohde, C. A.: Hereditary polyposis coli. III. Genetic and evolutionary fitness. Am. J. Hum. Genet. 32: 700-713, 1980. 185. Nagase, H.; Miyoshi, Y.; Horii, A.; Aoki, T.; Ogawa, M.; Utsunomiya, J.; Baba, S.; Sasazuki, T.; Nakamura, Y.: Correlation between the location of germ-line mutations in the APC gene and the number of colorectal polyps in familial adenomatous polyposis patients. Cancer Res. 52: 4055-4057, 1992. 186. Nagase, H.; Miyoshi, Y.; Horii, A.; Aoki, T.; Petersen, G. M.; Vogelstein, B.; Maher, E.; Ogawa, M.; Maruyama, M.; Utsunomiya, J.; Baba, S.; Nakamura, Y.: Screening for germ-line mutations in familial adenomatous polyposis patients: 61 new patients and a summary of 150 unrelated patients. Hum. Mutat. 1: 467-473, 1992. 187. Nagase, H.; Nakamura, Y.: Mutations of the APC (adenomatous polyposis coli) gene. Hum. Mutat. 2: 425-434, 1993. 188. Nakagawa, H.; Murata, Y.; Koyama, K.; Fujiyama, A.; Miyoshi, Y.; Monden, M.; Akiyama, T.; Nakamura, Y.: Identification of a brain-specific APC homologue, APCL, and its interaction with beta-catenin. Cancer Res. 58: 5176-5181, 1998. 189. Nakamura, Y.; Lathrop, M.; Leppert, M.; Dobbs, M.; Wasmuth, J.; Wolff, E.; Carlson, M.; Fujimoto, E.; Krapcho, K.; Sears, T.; Woodward, S.; Hughes, J.; Burt, R.; Gardner, E.; Lalouel, J.-M.; White, R.: Localization of the genetic defect in familial adenomatous polyposis within a small region of chromosome 5. Am. J. Hum. Genet. 43: 638-644, 1988. 190. Naylor, E. W.; Gardner, E. J.: Penetrance and expressivity of the gene responsible for the Gardner syndrome. Clin. Genet. 11: 381-393, 1977. 191. Naylor, E. W.; Gardner, E. J.: Adrenal adenomas in a patient with Gardner's syndrome. Clin. Genet. 20: 67-73, 1981. 192. Naylor, E. W.; Lebenthal, E.: Gardner's syndrome: recent developments in research and management. Digest. Dis. Sci. 25: 945-959, 1980. 193. Neufeld, K. L.; Nix, D. A.; Bogerd, H.; Kang, Y.; Beckerle, M. C.; Cullen, B. R.; White, R. L.: Adenomatous polyposis coli protein contains two nuclear export signals and shuttles between the nucleus and cytoplasm. Proc. Nat. Acad. Sci. 97: 12085-12090, 2000. 194. Neufeld, K. L.; White, R. L.: Nuclear and cytoplasmic localizations of the adenomatous polyposis coli protein. Proc. Nat. Acad. Sci. 94: 3034-3039, 1997. 195. Nishisho, I.; Nakamura, Y.; Miyoshi, Y.; Miki, Y.; Ando, H.; Horii, A.; Koyama, K.; Utsunomiya, J.; Baba, S.; Hedge, P.; Markham, A.; Krush, A. J.; Petersen, G.; Hamilton, S. R.; Nilbert, M. C.; Levy, D. B.; Bryan, T. M.; Preisinger, A. C.; Smith, K. J.; Su, L.-K.; Kinzler, K. W.; Vogelstein, B.: Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science 253: 665-669, 1991. 196. Novelli, M. R.; Williamson, J. A.; Tomlinson, I. P. M.; Elia, G.; Hodgson, S. V.; Talbot, I. C.; Bodmer, W. F.; Wright, N. A.: Polyclonal origin of colonic adenomas in an XO/XY patient with FAP. Science 272: 1187-1190, 1996. 197. Oda, H.; Imai, Y.; Nakatsuru, Y.; Hata, J.; Ishikawa, T.: Somatic mutations of the APC gene in sporadic hepatoblastomas. Cancer Res. 56: 3320-3323, 1996. 198. Offerhaus, G. J. A.; Giardiello, F. M.; Krush, A. J.; Booker, S. V.; Tersmette, A. C.; Kelley, N. C.; Hamilton, S. R.: The risk of upper gastrointestinal cancer in familial adenomatous polyposis. Gastroenterology 102: 1980-1982, 1992. 199. Okamoto, M.; Sato, C.; Kohno, Y.; Mori, T.; Iwama, T.; Tonomura, A.; Miki, Y.; Utsunomiya, J.; Nakamura, Y.; White, R.; Miyaki, M. : Molecular nature of chromosome 5q loss in colorectal tumors and desmoids from patients with familial adenomatous polyposis. Hum. Genet. 85: 595-599, 1990. 200. Olschwang, S.; Tiret, A.; Laurent-Puig, P.; Muleris, M.; Parc, R.; Thomas, G.: Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients. Cell 75: 959-968, 1993. 201. Oshima, M.; Dinchuk, J. E.; Kargman, S. L.; Oshima, H.; Hancock, B.; Kwong, E.; Trzaskos, J. M.; Evans, J. F.; Taketo, M. M.: Suppression of intestinal polyposis in Apc(delta-716) knockout mice by inhibition of cyclooxygenase 2 (COX-2). Cell 87: 803-809, 1996. 202. Oshima, M.; Oshima, H.; Kitagawa, K.; Kobayashi, M.; Itakura, C.; Taketo, M.: Loss of Apc heterozygosity and abnormal tissue building in nascent intestinal polyps in mice carrying a truncated Apc gene. Proc. Nat. Acad. Sci. 92: 4482-4486, 1995. 203. Pandey, J. P.; Ebbesen, P.; Bulow, S.; Svendsen, L. B.; Fudenberg, H. H.: IgG heavy-chain (Gm) allotypes in familial polyposis coli. Am. J. Hum. Genet. 39: 133-136, 1986. 204. Papadopoulos, N.; Leach, F. S.; Kinzler, K. W.; Vogelstein, B. : Monoallelic mutation analysis (MAMA) for identifying germline mutations. Nature Genet. 11: 99-102, 1995. 205. Patael, Y.; Figer, A.; Gershoni-Baruch, R.; Papa, M. Z.; Risel, S.; Shtoyerman-Chen, R.; Karasik, A.; Theodor, L.; Friedman, E.: Common origin of the I1307K APC polymorphism in Ashkenazi and non-Ashkenazi Jews. Europ. J. Hum. Genet. 7: 555-559, 1999. 206. Pauli, R. M.; Pauli, M. E.; Hall, J. G.: Gardner syndrome and periampullary malignancy. Am. J. Med. Genet. 6: 205-219, 1980. 207. Pavlides, G. P.; Milligan, F. D.; Clark, D. N.; Cohen, S. B.; Wennstrom, C. J.; Burbige, E. J.; Krush, A. J.; Murphy, E. A.: Hereditary polyposis coli. I. The diagnostic value of colonoscopy, barium enema, and fecal occult blood. Cancer 40: 2632-2639, 1977. 208. Peifer, M.: Cancer, catenins, and cuticle pattern: a complex connection. Science 262: 1667-1668, 1993. 209. Petersen, G. M.; Francomano, C.; Kinzler, K.; Nakamura, Y.: Presymptomatic direct detection of adenomatous polyposis coli (APC) gene mutations in familial adenomatous polyposis. Hum. Genet. 91: 307-311, 1993. 210. Petersen, G. M.; Parmigiani, G.; Thomas, D.: Missense mutations in disease genes: a Bayesian approach to evaluate causality. Am. J. Hum. Genet. 62: 1516-1524, 1998. 211. Petersen, G. M.; Shohat, T.; Brown, J.; Nakamura, Y.: Genetic counseling for familial adenomatous polyposis (FAP) with chromosome 5q linkage information. (Abstract) Am. J. Hum. Genet. 45 (suppl.): A125 only, 1989. 212. Phillips, L. G., Jr.: Polyposis and carcinoma of the small bowel and familial colonic polyposis. Dis. Colon Rectum 24: 478-481, 1981. 213. Pierce, E. R.: Pleiotropism and heterogeneity in hereditary intestinal polyposis. Birth Defects Orig. Art. Ser. VII(2): 52-62, 1972. 214. Pierce, E. R.; Weisbord, T.; McKusick, V. A.: Gardner's syndrome: formal genetics and statistical analysis of a large Canadian kindred. Clin. Genet. 1: 65-80, 1970. 215. Pilarski, R. T.; Brothman, A. R.; Benn, P.; Rosengren, S. S. : Attenuated familial adenomatous polyposis in a man with an interstitial deletion of chromosome arm 5q. Am. J. Med. Genet. 86: 321-324, 1999. 216. Polakis, P.: Mutations in the APC gene and their implications for protein structure and function. Curr. Opin. Genet. Dev. 5: 66-71, 1995. 217. Powell, S. M.; Petersen, G. M.; Krush, A. J.; Booker, S.; Jen, J.; Giardiello, F. M.; Hamilton, S. R.; Vogelstein, B.; Kinzler, K. W.: Molecular diagnosis of familial adenomatous polyposis. New Eng. J. Med. 329: 1982-1987, 1993. 218. Powell, S. M.; Zilz, N.; Beazer-Barclay, Y.; Bryan, T. M.; Hamilton, S. R.; Thibodeau, S. N.; Vogelstein, B.; Kinzler, K. W.: APC mutations occur early during colorectal tumorigenesis. Nature 359: 235-237, 1992. 219. Prescott, S. M.; White, R. L.: Self-promotion? Intimate connections between APC and prostaglandin H synthase-2. Cell 87: 783-786, 1996. 220. Prior, T. W.; Chadwick, R. B.; Papp, A. C.; Arcot, A. N.; Isa, A. M.; Pearl, D. K.; Stemmermann, G.; Percesepe, A.; Loukola, A.; Aaltonen, L. A.; De La Chapelle, A.: The I1307K polymorphism of the APC gene in colorectal cancer. Gastroenterology 116: 58-63, 1999. 221. Rasheed, S.; Rhim, J. S.; Gardner, E. J.: Inherited susceptibility to retrovirus-induced transformation of Gardner syndrome cells. Am. J. Hum. Genet. 35: 919-931, 1983. 222. Redston, M.; Nathanson, K. L.; Yuan, Z. Q.; Neuhausen, S. L.; Satagopan, J.; Wong, N.; Yang, D.; Nafa, D.; Abrahamson, J.; Ozcelik, H.; Antin-Ozerkis, D.; Andrulis, I.; and 13 others: The APC I1307K allele and breast cancer risk. Nature Genet. 20: 13-14, 1998. 223. Rider, S. H.; Mazzullo, H. A.; Davis, M. B.; Delhanty, J. D. A.: Familial polyposis coli: growth characteristics of karyotypically variable cultured fibroblasts, response to epidermal growth factor and the tumour promoter 12-0-tetradecanoyl phorbol-13-acetate. J. Med. Genet. 23: 131-144, 1986. 224. Roose, J.; Huls, G.; van Beest, M.; Moerer, P.; van der Horn, K.; Goldschmeding, R.; Logtenberg, T.; Clevers, H.: Synergy between tumor suppressor APC and the beta-catenin-Tcf4 target Tcf1. Science 285: 1923-1926, 1999. 225. Rosin-Arbesfeld, R.; Townsley, F.; Bienz, M.: The APC tumour suppressor has a nuclear export function. Nature 406: 1009-1012, 2000. 226. Rowan, A. J.; Lamlum, H.; Ilyas, M.; Wheeler, J.; Straub, J.; Papadopoulou, A.; Bicknell, D.; Bodmer, W. F.; Tomlinson, I. P. M. : APC mutations in sporadic colorectal tumors: a mutational 'hotspot' and interdependence of the 'two hits.' Proc. Nat. Acad. Sci. 97: 3352-3357, 2000. 227. Rozen, P.; Naiman, T.; Strul, H.; Taussky, P.; Karminsky, N.; Shomrat, R.; Samuel, Z.; Yaron, Y.; Orr-Urtreger, A.: Clinical and screening implications of the I1307K adenomatous polyposis coli gene variant in Israeli Ashkenazi Jews with familial colorectal neoplasia: evidence for a founder effect. Cancer 94: 2561-2568, 2002. 228. Rozen, P.; Samuel, Z.; Shomrat, R.; Legum, C.: Notable intrafamilial phenotypic variability in a kindred with familial adenomatous polyposis and an APC mutation in exon 9. Gut 45: 829-833, 1999. 229. Rozen, P.; Shomrat, R.; Strul, H.; Naiman, T.; Karminsky, N.; Legum, C.; Orr-Urtreger, A.: Prevalence of the I1307K APC gene variant in Israeli Jews of differing ethnic origin and risk for colorectal cancer. Gastroenterology 116: 54-57, 1999. 230. Rubinfeld, B.; Albert, I.; Porfiri, E.; Fiol, C.; Munemitsu, S.; Polakis, P.: Binding of GSK3-beta to the APC-beta-catenin complex and regulation of complex assembly. Science 272: 1023-1026, 1996. 231. Rubinfeld, B.; Souza, B.; Albert, I.; Muller, O.; Chamberlain, S. H.; Masiarz, F. R.; Munemitsu, S.; Polakis, P.: Association of the APC gene product with beta-catenin. Science 262: 1731-1734, 1993. 232. Samowitz, W. S.; Burt, R. W.; Leppert, M.: Gastrointestinal polyposis and nonpolyposis syndromes. (Letter) New Eng. J. Med. 332: 1518 only, 1995. 233. Sanchez, M. A.; Zali, M. R.; Khalil, A. A.; Ponce, R.; Font, R. G.: Be aware of Gardner's syndrome: a review of the literature. Am. J. Gastroent. 71: 68-73, 1979. 234. Savage, P. T.: Polyposis coli associated with multiple tumours in other parts of the body (Gardner's syndrome). Proc. Roy. Soc. Med. 57: 402-403, 1964. 235. Schneider, N. R.; Cubilla, A. L.; Chaganti, R. S. K.: Association of endocrine neoplasia with multiple polyposis of the colon. Cancer 51: 1171-1175, 1983. 236. Schnitzler, M.; Dwight, T.; Robinson, B. G.: Sulindac increases the expression of APC mRNA in malignant colonic epithelial cells: an in vitro study. Gut 38: 707-713, 1996. 237. Schnur, P. L.; David, E.; Brown, P. W., Jr.; Beahrs, O. H.; Remine, W. H.; Harrison, E. G., Jr.: Duodenal cancer and Gardner syndrome. J.A.M.A. 223: 1229-1232, 1973. 238. Scott, R. J.; Froggart, N. J.; Trembath, R. C.; Evans, D. G. R.; Hodgson, S. V.; Maher, E. R.: Familial infiltrative fibromatosis (desmoid tumours) (MIM135290) caused by a recurrent 3-prime APC gene mutation. Hum. Molec. Genet. 5: 1921-1924, 1996. 239. Seki, M.; Tanaka, K.; Kikuchi-Yanoshita, R.; Konishi, M.; Fukunari, H.; Iwama, T.; Miyaki, M.: Loss of normal allele of the APC gene in an adrenocortical carcinoma from a patient with familial adenomatous polyposis. Hum. Genet. 89: 298-300, 1992. 240. Sen-Gupta, S.; Van der Luijt, R. B.; Bowles, L. V.; Meera Khan, P.; Delhanty, J. D. A.: Somatic mutation of APC gene in desmoid tumour in familial adenomatous polyposis. (Letter) Lancet 342: 552-553, 1993. 241. Shaoul, R.; Papsin, B.; Cutz, E.; Durie, P.: Congenital cholesteatoma in a child carrying a gene mutation for adenomatous polyposis coli. J. Pediat. Gastroent. Nutr. 28: 100-103, 1999. 242. Shemesh, E.: Adenomatous polyp of the common bile duct in familial polyposis coli. Israel J. Med. Sci. 21: 701-702, 1985. 243. Shields, J. A.; Shields, C. L.; Eagle, R. C., Jr.; Singh, A. D.: Adenocarcinoma arising from congenital hypertrophy of retinal pigment epithelium. Arch. Ophthal. 119: 597-602, 2001. 244. Shields, J. A.; Shields, C. L.; Singh, A. D.: Acquired tumors arising from congenital hypertrophy of the retinal pigment epithelium. Arch. Ophthal. 118: 637-641, 2000. 245. Shih, I.-M.; Wang, T.-L.; Traverso, G.; Romans, K.; Hamilton, S. R.; Ben-Sasson, S.; Kinzler, K. W.; Vogelstein, B.: Top-down morphogenesis of colorectal tumors. Proc. Nat. Acad. Sci. 98: 2640-2645, 2001. 246. Shneider, B. L.; Haque, S.; van Hoff, J.; Touloukian, R. J.; West, A. B.: Familial adenomatous polyposis following liver transplantation for a virilizing hepatoblastoma. J. Pediat. Gastroent. Nutr. 15: 198-201, 1992. 247. Shull, L. N., Jr.; Fitts, C. T.: Lymphoid polyposis associated with familial polyposis and Gardner's syndrome. Ann. Surg. 180: 319-322, 1974. 248. Sieber, O. M.; Lamlum, H.; Crabtree, M. D.; Rowan, A. J.; Barclay, E.; Lipton, L.; Hodgson, S.; Thomas, H. J. W.; Neale, K.; Phillips, R. K. S.; Farrington, S. M.; Dunlop, M. G.; and 9 others: Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or 'multiple' colorectal adenomas. Proc. Nat. Acad. Sci. 99: 2954-2958, 2002. 249. Silverberg, M. S.; Clelland, C.; Murphy, J. E.; Steinhart, A. H.; McLeod, R. S.; Greenberg, G. R.; Cohen, Z.; Siminovitch, K. A. : Carrier rate of APC I1307K is not increased in inflammatory bowel disease patients of Ashkenazi Jewish origin. Hum. Genet. 108: 205-210, 2001. 250. Simpson, R. D.; Harrison, E. G., Jr.; Mayo, C. W.: Mesenteric fibromatosis in familial polyposis: a variant of Gardner's syndrome. Cancer 17: 526-534, 1964. 251. Sivak, M. V.; Jagelman, D. G.: Upper gastrointestinal endoscopy in polyposis syndromes: familial polyposis coli and Gardner's syndrome. Gastrointest. Endosc. 30: 102-104, 1984. 252. Smith, G.; Carey, F. A.; Beattie, J.; Wilkie, M. J. V.; Lightfoot, T. J.; Coxhead, J.; Garner, R. C.; Steele, R. J. C.; Wolf, C. R.: Mutations in APC, Kirsten-ras, and p53--alternative genetic pathways to colorectal cancer. Proc. Nat. Acad. Sci. 99: 9433-9438, 2002. 253. Smith, K. J.; Johnson, K. A.; Bryan, T. M.; Hill, D. E.; Markowitz, S.; Willson, J. K. V.; Paraskeva, C.; Petersen, G. M.; Hamilton, S. R.; Vogelstein, B.; Kinzler, K. W.: The APC gene product in normal and tumor cells. Proc. Nat. Acad. Sci. 90: 2846-2850, 1993. 254. Smith, W. G.: Multiple polyposis, Gardner's syndrome and desmoid tumors. Dis. Colon Rectum 1: 323-332, 1958. 255. Smith, W. G.: Familial multiple polyposis: research tool for investigating the etiology of carcinoma of the colon? Dis. Colon Rectum 11: 17-31, 1968. 256. Solomon, E.; Voss, R.; Hall, V.; Bodmer, W. F.; Jass, J. R.; Jeffreys, A. J.; Lucibello, F. C.; Patel, I.; Rider, S. H.: Chromosome 5 allele loss in human colorectal carcinomas. Nature 328: 616-619, 1987. 257. Soravia, C.; Berk, T.; Madlensky, L.; Mitri, A.; Cheng, H.; Gallinger, S.; Cohen, Z.; Bapat, B.: Genotype-phenotype correlations in attenuated adenomatous polyposis coli. Am. J. Hum. Genet. 62: 1290-1301, 1998. 258. Soravia, C.; Sugg, S. L.; Berk, T.; Mitri, A.; Cheng, H.; Gallinger, S.; Cohen, Z.; Asa, S. L.; Bapat, B. V.: Familial adenomatous polyposis-associated thyroid cancer: a clinical, pathological, and molecular genetics study. Am. J. Path. 154: 127-135, 1999. 259. Spirio, L.; Green, J.; Robertson, J.; Robertson, M.; Otterud, B.; Sheldon, J.; Howse, E.; Groden, J.; White, R.; Leppert, M.: The identical 5-prime splice-site acceptor mutation in five attenuated APC families from Newfoundland demonstrates a founder effect. Hum. Genet. 105: 388-398, 1999. 260. Spirio, L.; Olschwang, S.; Groden, J.; Robertson, M.; Samowitz, W.; Joslyn, G.; Gelbert, L.; Thliveris, A.; Carlson, M.; Otterud, B.; Lynch, H.; Watson, P.; Lynch, P.; Laurent-Puig, P.; Burt, R.; Hughes, J. P.; Thomas, G.; Leppert, M.; White, R.: Alleles of the APC gene: an attenuated form of familial polyposis. Cell 75: 951-957, 1993. 261. Spirio, L. N.; Samowitz, W.; Robertson, J.; Robertson, M.; Burt, R. W.; Leppert, M.; White, R.: Alleles of APC modulate the frequency and classes of mutations that lead to colon polyps. Nature Genet. 20: 385-388, 1998. 262. Steinbach, G.; Lynch, P. M.; Phillips, R. K. S.; Wallace, M. H.; Hawk, E.; Gordon, G. B.; Wakabayashi, N.; Saunders, B.; Shen, Y.; Fujimura, T.; Su, L.-K.; Levin, B.: The effect of celecoxib, a cyclooxygenase-2 inhibitor, in familial adenomatous polyposis. New Eng. J. Med. 342: 1946-1952, 2000. 263. Stella, A.; Resta, N.; Gentile, M.; Susca, F.; Mareni, C.; Montera, M. P.; Guanti, G.: Exclusion of the APC gene as the cause of a variant form of familial adenomatous polyposis (FAP). Am. J. Hum. Genet. 53: 1031-1037, 1993. 264. Su, L.-K.; Abdalla, E. K.; Law, C. H. L.; Kohlmann, W.; Rashid, A.; Vauthey, J.-N.: Biallelic inactivation of the APC gene is associated with hepatocellular carcinoma in familial adenomatous polyposis coli. Cancer 92: 332-339, 2001. 265. Su, L.-K.; Barnes, C. J.; Yao, W.; Qi, Y.; Lynch, P. M.; Steinbach, G.: Inactivation of germline mutant APC alleles by attenuated somatic mutations: a molecular genetic mosaicism for attenuated familial adenomatous polyposis. Am. J. Hum. Genet. 67: 582-590, 2000. Note: Erratum: Am. J. Hum. Genet. 67: 1045 only, 2000. 266. Su, L.-K.; Kinzler, K. W.; Vogelstein, B.; Preisinger, A. C.; Moser, A. R.; Luongo, C.; Gould, K. A.; Dove, W. F.: Multiple intestinal neoplasia caused by a mutation in the murine homolog of the APC gene. Science 256: 668-670, 1992. 267. Su, L.-K.; Kohlmann, W.; Ward, P. A.; Lynch, P. M.: Different familial adenomatous polyposis phenotypes resulting from deletions of the entire APC exon 15. Hum. Genet. 111 88-95, 2002. 268. Su, L.-K.; Steinbach, G.; Sawyer, J. C.; Hindi, M.; Ward, P. A.; Lynch, P. M.: Genomic rearrangements of the APC tumor-suppressor gene in familial adenomatous polyposis. Hum. Genet. 106: 101-107, 2000. 269. Su, L.-K.; Vogelstein, B.; Kinzler, K. W.: Association of the APC tumor suppressor protein with catenins. Science 262: 1734-1737, 1993. 270. Sugihara, K.; Muto, T.; Kamiya, J.; Konishi, F.; Sawada, T.; Morioka, Y.: Gardner's syndrome associated with periampullary carcinoma, duodenal and gastric adenomatosis: report of a case. Dis. Colon Rectum 25: 766-771, 1982. 271. Sulekova, Z.; Ballhausen, W. G.: A novel coding exon of the human adenomatous polyposis coli gene. Hum. Genet. 96: 469-471, 1995. 272. Takaku, K.; Oshima, M.; Miyoshi, H.; Matsui, M.; Seldin, M. F.; Taketo, M. M.: Intestinal tumorigenesis in compound mutant mice of both Dpc4 (Smad4) and Apc genes. Cell 92: 645-656, 1998. 273. Thakker, N.; Davies, R.; Horner, K.; Armstrong, J.; Clancy, T.; Guy, S.; Harris, R.; Sloan, P.; Evans, G.: The dental phenotype in familial adenomatous polyposis: diagnostic application of a weighted scoring system for changes on dental panoramic radiographs. J. Med. Genet. 32: 458-464, 1995. 274. Thompson, J. S.; Harned, R. K.; Anderson, J. C.; Hodgson, P. E.: Papillary carcinoma of the thyroid and familial polyposis coli. Dis. Colon Rectum 26: 583-585, 1983. 275. Tops, C. M. J.; van der Klift, H. M.; van der Luijt, R. B.; Griffioen, G.; Taal, B. G.; Vasen, H. F. A.; Khan, P. M.: Non-allelic heterogeneity of familial adenomatous polyposis. Am. J. Med. Genet. 47: 563-567, 1993. 276. Tops, C. M. J.; Vasen, H. F. A.; van Berge Henegouwen, G.; Simoons, P. P.; van de Klift, H. M.; van Leeuwen, I. S. J.; Breukel, C.; Fodde, R.; den Hartog Jager, F. C. A.; Nagengast, F. M.; Griffioen, G.; Meera Khan, P.: Genetic evidence that Turcot syndrome is not allelic to familial adenomatous polyposis. Am. J. Med. Genet. 43: 888-893, 1992. 277. Tops, C. M. J.; Wijnen, J. T.; Griffioen, G.; van Leeuwen, I. S. J.; Vasen, H. F. A.; den Hartog Jager, F. C. A.; Breukel, C.; Nagengast, F. M.; van der Klift, H. M.; Lamers, C. B. H. W.; Meera Khan, P.: Presymptomatic diagnosis of familial adenomatous polyposis by bridging DNA markers. Lancet II: 1361-1363, 1989. 278. Traboulsi, E. I.; Krush, A. J.; Gardner, E. J.; Booker, S. V.; Offerhaus, G. J. A.; Yardley, J. H.; Hamilton, S. R.; Luk, G. D.; Giardiello, F. M.; Welsh, S. B.; Hughes, J. P.; Maumenee, I. H.: Prevalence and importance of pigmented ocular fundus lesions in Gardner's syndrome. New Eng. J. Med. 316: 661-667, 1987. 279. Traverso, G.; Shuber, A.; Levin, B.; Johnson, C.; Olsson, L.; Schoetz, D. J., Jr.; Hamilton, S. R.; Boynton, K.; Kinzler, K. W.; Vogelstein, B.: Detection of APC mutations in fecal DNA from patients with colorectal tumors. New Eng. J. Med. 346: 311-320, 2002. 280. Tsujii, M.; DuBois, R. N.: Alterations in cellular adhesion and apoptosis in epithelial cells overexpressing prostaglandin endoperoxide synthase 2. Cell 83: 493-501, 1995. 281. Turcot, J.; Despres, J. P.; St. Pierre, F.: Malignant tumors of the central nervous system associated with familial polyposis of the colon: report of two cases. Dis. Colon Rectum 2: 465-468, 1959. 282. Utsunomiya, J.; Nakamura, T.: The occult osteomatous changes in the mandible in patients with familial polyposis coli.. Brit. J. Surg. 62: 45-51, 1975. 283. van der Luijt, R.; Meera Khan, P.; Vasen, H.; van Leeuwen, C.; Tops, C.; Roest, P.; den Dunnen, J.; Fodde, R.: Rapid detection of translation-terminating mutations at the adenomatous polyposis coli (APC) gene by direct protein truncation test. Genomics 20: 1-4, 1994. 284. van der Luijt, R. B.; Khan, P. M.; Vasen, H. F. A.; Breukel, C.; Tops, C. M. J.; Scott, R. J.; Fodde, R.: Germline mutations in the 3-prime part of APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coli. Hum. Genet. 98: 727-734, 1996. 285. van der Luijt, R. B.; Khan, P. M.; Vasen, H. F. A.; Tops, C. M. J.; van Leeuwen-Cornelisse, I. S. J.; Wijnen, J. T.; van der Klift, H. M.; Plug, R. J.; Griffioen, G.; Fodde, R.: Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germline mutations identified by DGGE, PTT, and Southern analysis. Hum. Mutat. 9: 7-16, 1997. 286. van der Luijt, R. B.; Tops, C. M. J.; Khan, P. M.; van der Klift, H. M.; Breukel, C.; van Leeuwen-Cornelisse, I. S. J.; Dauwerse, H. G.; Beverstock, G. C.; van Noort, E.; Snel, P.; Slors, F. J. M.; Vasen, H. F. A.; Fodde, R.: Molecular, cytogenetic, and phenotypic studies of a constitutional reciprocal translocation t(5;10)(q22;q25) responsible for familial adenomatous polyposis in a Dutch pedigree. Genes Chromosomes Cancer 13: 192-202, 1995. 287. van Es, J.; Kirkpatrick, C.; van de Wetering, M.; Molenaar, M.; Miles, A.; Kuipers, J.; Destree, O.; Peifer, M.; Clevers, H.: Identification of APC2, a homologue of the adenomatous polyposis coli tumour suppressor. Curr. Biol. 9: 105-108, 1999. 288. Vanhoutte, J. J.: Polypoid lymphoid hyperplasia of the terminal ileum in patients with familial polyposis coli and with Gardner's syndrome. Am. J. Roentgen. 110: 340-342, 1970. 289. Varesco, L.; Thomas, H. J. W.; Cottrell, S.; Murday, V.; Fennell, S. J.; Williams, S.; Searle, S.; Sheer, D.; Bodmer, W. F.; Frischauf, A.-M.; Solomon, E.: CpG island clones from a deletion encompassing the gene for adenomatous polyposis coli. Proc. Nat. Acad. Sci. 86: 10118-10122, 1989. 290. Veale, A. M.: Clinical and genetic problems in familial intestinal polyposis. Gut 1: 285-290, 1960. 291. Venkitachalam, P. S.; Hirsch, E.; Elguezabal, A.; Littman, L. : Multiple lymphoid polyposis and familial polyposis of the colon: a genetic relationship. Dis. Colon Rectum 21: 336-341, 1978. 292. Waddell, W. R.; Loughry, R. W.: Sulindac for polyposis of the colon. J. Surg. Oncol. 24: 83-87, 1983. 293. Wallis, Y. L.; Macdonald, F.; Hulten, M.; Morton, J. E. V.; McKeown, C. M.; Neoptolemos, J. P.; Keighley, M.; Morton, D. G.: Genotypephenotype correlation between position of constitutional APC gene mutation and CHRPE expression in familial adenomatous polyposis. Hum. Genet. 94: 543-548, 1994. 294. Wallis, Y. L.; Morton, D. G.; McKeown, C. M.; Macdonald, F.: Molecular analysis of the APC gene in 205 families: extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition. J. Med. Genet. 36: 14-20, 1999. 295. Walsh, N.; Qizilbash, A.; Banerjee, R.; Waugh, G. A.: Biliary neoplasia in Gardner's syndrome. Arch. Path. Lab. Med. 111: 76-77, 1987. 296. Wasan, H. S.; Novelli, M.; Bee, J.; Bodmer, W. F.: Dietary fat influences on polyp phenotype in multiple intestinal neoplasia mice. Proc. Nat. Acad. Sci. 94: 3308-3313, 1997. 297. Watanabe, H.; Enjoji, M.; Yao, T.; Ohsato, K.: Gastric lesions in familial adenomatosis coli: their incidence and histologic analysis. Hum. Path. 9: 269-283, 1978. 298. Westbrook, C. A.; Chmura, S. J.; Arenas, R. B.; Kim, S. Y.; Otto, G.: Human APC gene expression in rodent colonic epithelium in vivo using liposomal gene delivery. Hum. Molec. Genet. 3: 2005-2010, 1994. 299. Wheeler, J. M. D.; Warren, B. F.; Mortensen, N. J. M.; Kim, H. C.; Biddolph, S. C.; Elia, G.; Beck, N. E.; Williams, G. T.; Shepherd, N. A.; Bateman, A. C.; Bodmer, W. F.: An insight into the genetic pathway of adenocarcinoma of the small intestine. Gut 50: 218-223, 2002. 300. Won, Y.-J.; Park, K. J.; Kwon, H.-J.; Lee, J.-H.; Kim, J.-H.; Kim, Y. J.; Chun, S. H.; Han, H.-J.; Park, J.-G.: Germline mutations of the APC gene in Korean familial adenomatous polyposis patients. J. Hum. Genet. 44: 103-108, 1999. 301. Woodage, T.; King, S. M.; Wacholder, S.; Hartge, P.; Struewing, J. P.; McAdams, M.; Laken, S. J.; Tucker, M. A.; Brody, L. C.: The APC I1307K allele and cancer risk in a community-based study of Ashkenazi Jews. Nature Genet. 20: 62-65, 1998. 302. Xia, L.; St. Denis, K. A.; Bapat, B.: Evidence for a novel exon in the coding region of the adenomatous polyposis coli (APC) gene. Genomics 28: 589-591, 1995. 303. Yan, H.; Dobbie, Z.; Gruber, S. B.; Markowitz, S.; Romans, K.; Giardiello, F. M.; Kinzler, K. W.; Vogelstein, B.: Small changes in expression affect predisposition to tumorigenesis. Nature Genet. 30: 25-26, 2002. 304. Yan, H.; Papadopoulos, N.; Marra, G.; Perrera, C.; Jiricny, J.; Boland, C. R.; Lynch, H. T.; Chadwick, R. B.; de la Chapelle, A.; Berg, K.; Eshleman, J. R.; Yuan, W.; Markowitz, S.; Laken, S. J.; Lengauer, C.; Kinzler, K. W.; Vogelstein, B.: Conversion of diploidy to haploidy. Nature 403: 723-724, 2000. 305. Yonemoto, R. H.; Slayback, J. B.; Byron, R. L., Jr.; Rosen, R. B.: Familial polyposis of the entire gastrointestinal tract. Arch. Surg. 99: 427-434, 1969. 306. Young, J.; Simms, L. A.; Tarish, J.; Buttenshaw, R.; Knight, N.; Anderson, G. J.; Bell, A.; Leggett, B.: A family with attenuated familial adenomatous polyposis due to a mutation in the alternatively spliced region of APC exon 9. Hum. Mutat. 11: 450-455, 1998. 307. Yuan, Z. Q.; Kasprzak, L.; Gordon, P. H.; Pinsky, L.; Foulkes, W. D.: I1307K APC and hMLH1 mutations in a non-Jewish family with hereditary non-polyposis colorectal cancer. Clin. Genet. 54: 368-370, 1998.
[0016048]6636.Riccio, A.; Grimaldi, G.; Verde, P.; Sebastio, G.; Boast, S.; Blasi, F.: The human urokinase-plasminogen activator gene and its promoter. Nucleic Acids Res. 13: 2759-2771, 1985.
[0016049]6637.Seeds, N. W.; Basham, M. E.; Haffke, S. P.: Neuronal migration is retarded in mice lacking the tissue plasminogen activator gene. Proc. Nat. Acad. Sci. 96: 14118-14123, 1999.
[0016050]6638.Seeds, N. W.; Williams, B. L.; Bickford, P. C.: Tissue plasminogen activator induction in Purkinje neurons after cerebellar motor learning. Science 270: 1992-1994, 1996.
[0016051]6639.Stead, N. W.; Bauer, K. A.; Kinney, T. R.; Lewis, J. G.; Campbell, E. E.; Shifman, M. A.; Rosenberg, R. D.; Pizzo, S. V.: Venous thrombosis in a family with defective release of vascular plasminogen activator and elevated plasma factor VIII/von Willebrand's factor. Am. J. Med. 74: 33-39, 1983.
[0016052]6640.Tishkoff, S. A.; Pakstis, A. J.; Stoneking, M.; Kidd, J. R.; Destro-Bisol, G.; Sanjantila, A.; Lu, R.; Deinard, A. S.; Sirugo, G.; Jenkins, T.; Kidd, K. K.; Clark, A. G.: Short tandem-repeat polymorphism/Alu haplotype variation at the PLAT locus: implications for modern human origins. Am. J. Hum. Genet. 67: 901-925, 2000.
[0016053]6641.Tripputi, P.; Blasi, F.; Emanuel, B. S.; Letofsky, J.; Croce, C. M.: Tissue-type plasminogen activator gene is on chromosome 8. Cytogenet. Cell Genet. 42: 24-28, 1986.
[0016054]6642.Verheijen, J. H.; Visse, R.; Wijnen, J. T.; Chang, G. T. G.; Kluft, C.; Meera Khan, P.: Assignment of the human tissue-type plasminogen activator gene (PLAT) to chromosome 8. Hum. Genet. 72: 153-156, 1986.
[0016055]6643.Visse, R.; Chang, G. T. G.; Wijnen, J. T.; Verheijen, J. H.; Kluft, C.; Meera Khan, P.: Provisional assignment of human tissue-type plasminogen activator (PLAT) to chromosome 8. (Abstract) Cytogenet. Cell Genet. 40: 771 only, 1985.
[0016056]6644.Yang-Feng, T. L.; Opdenakker, G.; Volckaert, G.; Francke, U.: Mapping of the human tissue-type plasminogen activator (PLAT) gene to chromosome 8 (8p12-q11.2). (Abstract) Cytogenet. Cell Genet. 40: 784 only, 1985.
[0016057]6645.Yang-Feng, T. L.; Opdenakker, G.; Volckaert, G.; Francke, U.: Human tissue-type plasminogen activator gene located near chromosomal breakpoint in myeloproliferative disorder. Am. J. Hum. Genet. 39: 79-87, 1986.
[0016058]6646.Rijneveld, A. W.; Levi, M.; Florquin, S.; Speelman, P.; Carmeliet, P.; van der Poll, T.: Urokinase receptor is necessary for adequate host defense against pneumococcal pneumonia. J. Immun. 168: 3507-3511, 2002.
[0016059]6647.Aitchison, K.; Ogilvie, D.; Honeyman, M.; Thompson, E.; Sykes, B.: Homozygous osteogenesis imperfecta unlinked to collagen I genes. Hum. Genet. 78: 233-236, 1988.
[0016060]6648.Barsh, G. S.; Byers, P. H.: Reduced secretion of structurally abnormal type I procollagen in a form of osteogenesis imperfecta. Proc. Nat. Acad. Sci. 78: 5142-5146, 1981.
[0016061]6649.Bateman, J. F.; Chan, D.; Walker, I. D.; Rogers, J. G.; Cole, W. G.: Lethal perinatal osteogenesis imperfecta due to the substitution of arginine for glycine at residue 391 of the alpha-1(I) chain of type I collagen. J. Biol. Chem. 262: 7021-7027, 1987.
[0016062]6650.Bonadio, J.: Personal Communication. Ann Arbor, Mich. 3/1990.
[0016063]6651.Bonadio, J.: Personal Communication. Ann Arbor, Mich. 2/7/1992.
[0016064]6652.Bonadio, J.; Ramirez, F.; Barr, M.: An intron mutation in the human alpha-1(I) collagen gene alters the efficiency of pre-mRNA splicing and is associated with osteogenesis imperfecta type II. J. Biol. Chem. 265: 2262-2268, 1990.
[0016065]6653.Cohn, D. H.; Starman, B. J.; Blumberg, B.; Byers, P. H.: Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1). Am. J. Hum. Genet. 46: 591-601, 1990.
[0016066]6654.Brecher, R.; Bird, A. C.: Adult vitelliform macular dystrophy. Eye 4: 210-215, 1990.
[0016067]6655.Cullen, T. S.: Embryology, Anatomy, and Diseases of the Umbilicus Together with Diseases of the Urachus. Philadelphia: W. B. Saunders (pub.) 1916.
[0016068]6656.Feingold, M.; Shiere, F.; Fogels, H. R.; Donaldson, D. D.: Rieger's syndrome. Pediatrics 44: 564-569, 1969.
[0016069]6657.Friedman, J. M.: Umbilical dysmorphology: the importance of contemplating the belly button. Clin. Genet. 28: 343-347, 1985.
[0016070]6658.Chu, X.; Thompson, D.; Yee, L. J.; Sung, L. A.: Genomic organization of mouse and human erythrocyte tropomodulin genes encoding the pointed end capping protein for the actin filaments. Gene 256: 271-281, 2000.
[0016071]6659.Fowler, V. M.; Sussmann, M. A.; Miller, P. G.; Flucher, B. E.; Daniels, M. P.: Tropomodulin is associated with the free (pointed) ends of the thin filaments in rat skeletal muscle. J. Cell Biol. 120: 411-420, 1993.
[0016072]6660.Gilligan, D. M.; Bennett, V.: The junctional complex of the membrane skeleton. Semin. Hemat. 30: 74-83, 1993.
[0016073]6661.Lench, N. J.; Telford, E. A.; Andersen, S. E.; Moynihan, T. P.; Robinson, P. A.; Markham, A. F.: An EST and STS-based YAC contig map of human chromosome 9q22.3 Genomics 38: 199-205, 1996.
[0016074]6662.Sung, L. A.; Fan, Y.-S.; Lin, C. C.: Gene assignment, expression, and homology of human tropomodulin. Genomics 34: 92-96, 1996.
[0016075]6663.Sung, L. A.; Fan, Y. S.; Lambert, K.; Fowler, V.; Chien, S.; Lin, C.: Assignment of human erythrocyte tropomodulin gene to q22 of chromosome 9. (Abstract) Cytogenet. Cell Genet. 58: 1944, 1991.
[0016076]6664.Sung, L. A.; Fowler, V. M.; Lambert, K.; Chien, S.: Molecular cloning of human erythroid tropomodulin. (Abstract) FASEB J. 5: A1625, 1991.
[0016077]6665.Sung, L. A.; Fowler, V. M.; Lambert, K.; Sussman, M. A.; Karr, D.; Chien, S.: Molecular cloning and characterization of human fetal liver tropomodulin: a tropomyosin-binding protein. J. Biol. Chem. 267: 2616-2621, 1992.
[0016078]6666.White, R. A.; Dowler, L. L.; Woo, M.; Adkison, L. R.; Pal, S.; Gershon, D.; Fowler, V. M.: The tropomodulin (Tmod) gene maps to chromosome 4, closely linked to Mup1. Mammalian Genome 6: 332-333, 1995.
[0016079]6667.Hunt, C. C. J.; Eyre, H. J.; Akkari, P. A.; Meredith, C.; Dorosz, S. M.; Wilton, S. D.; Callen, D. F.; Laing, N. G.; Baker, E.: Assignment of the human beta tropomyosin gene (TPM2) to band 9p13 by fluorescence in situ hybridization. Cytogenet. Cell Genet. 71: 94-95, 1995.
[0016080]6668.Sri Widada, J.; Ferraz, C.; Capony, J.-P.; Liautard, J.-P.: Complete nucleotide sequence of the adult skeletal isoform of human skeletal muscle beta-tropomyosin. Nucleic Acids Res. 16: 3109 only, 1988.
[0016081]6669.Tiso, N.; Rampoldi, L.; Pallavicini, A.; Zimbello, R.; Pandolfo, D.; Valle, G.; Lanfranchi, G.; Danieli, G. A.: Fine mapping of five human skeletal muscle genes: alpha-tropomyosin, beta-tropomyosin, troponin-I slow-twitch, troponin-I fast-twitch, and troponin-C fast. Biochem. Biophys. Res. Commun. 230: 347-350, 1997.
[0016082]6670.Blanchard, E. M.; Iizuka, K.; Christe, M.; Conner, D. A.; Geisterfer-Lowrance, A.; Schoen, F. J.; Maughan, D. W.; Seidman, C. E.; Seidman, J. G. : Targeted ablation of the murine alphatropomyosin gene. Circulation Res. 81: 1005-1010, 1997.
[0016083]6671.Brown, J. H.; Kim, K.-H.; Jun, G.; Greenfield, N. J.; Dominguez, R.; Volkmann, N.; Hitchcock-DeGregori, S. E.; Cohen, C.: Deciphering the design of the tropomyosin molecule. Proc. Nat. Acad. Sci. 98: 8496-8501, 2001.
[0016084]6672.Eyre, H.; Akkari, P. A.; Wilton, S. D.; Callen, D. C.; Baker, E.; Laing, N. G.: Assignment of the human skeletal muscle alpha-tropomyosin gene (TPM1) to band 15q22 by fluorescence in situ hybridization. Cytogenet. Cell Genet. 69: 15-17, 1995.
[0016085]6673.Torrents, D.; Mykkanen, J.; Pineda, M.; Feliubadalo, L.; Estevez, R.; de Cid, R.; Sanjurjo, P.; Zorzano, A.; Nunes, V.; Huoponen, K.; Reinikainen, A.; Simell, O.; Savontaus, M.-L.; Aula, P.; Palacin, M.: Identification of SLC7A7, encoding y(+)LAT-1, as the lysinuric protein intolerance gene. Nature Genet. 21: 293-296, 1999.
[0016086]6674.Tauchi, H.; Matsuura, S.; Isomura, M.; Kinjo, T.; Nakamura, A.; Sakamoto, S.; Kondo, N.; Endo, S.; Komatsu, K.; Nakamura, Y.: Sequence analysis of an 800-kb genomic DNA region on chromosome 8q21 that contains the Nijmegen breakage syndrome gene, NBS1. Genomics 55: 242-247, 1999.
[0016087]6675.Hamajima, N.; Matsuda, K.; Sakata, S.; Tamaki, N.; Sasaki, M.; Nonaka, M.: A novel gene family defined by human dihydropyrimidinase and three related proteins with differential tissue distribution. Gene 180: 157-163, 1996.
[0016088]6676.Sia, C. L.; Traniello, S.; Pontremoli, S.; Horecker, B. L.: Studies on the subunit structure of rabbit liver fructose diphosphatase. Arch. Biochem. Biophys. 132: 325-330, 1969.
[0016089]6677.Boesiger, P.; Buchli, R.; Meier, D.; Steinmann, B.; Gitzelmann, R.: Changes of liver metabolite concentrations in adults with disorders of fructose metabolism after intravenous fructose by (31)P magnetic resonance spectroscopy. Pediat. Res. 36: 436-440, 1994.
[0016090]6678.Bonthron, D. T.; Brady, N.; Donaldson, I. A.; Steinmann, B.: Molecular basis of essential fructosuria: molecular cloning and mutational analysis of human ketohexokinase (fructokinase). Hum. Molec. Genet. 3: 1627-1631, 1994.
[0016091]6679.Czapek, F.: Eine seltene Form von Diabetes mellitus. Prager Med. Wochenschr. 1: 245-249, 1876.
[0016092]6680.Gitzelmann, R.; Steinmann, B.; Van Den Berghe, G.: Disorders of fructose metabolism.In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D.: The Metabolic Basis of Inherited Disease. New York: McGraw-Hill (pub.) (6th ed.): 1989. Pp. 399-424.
[0016093]6681.Hayward, B. E.; Fantes, J. A.; Warner, J. P.; Intody, S.; Leek, J. P.; Markham, A. F.; Bonthron, D. T.: Co-localization of the ketohexokinase and glucokinase regulator genes to a 500-kb region of chromosome 2p23. Mammalian Genome 7: 454-458, 1996.
[0016094]6682.Khachadurian, A. K.: Nonalimentary fructosuria. (Letter) Pediatrics 32: 455-457, 1963.
[0016095]6683.Laron, Z.: Essential benign fructosuria. Arch. Dis. Child. 36: 273-277, 1961.
[0016096]6684.Lasker, M.: Essential fructosuria. Hum. Biol. 13: 51-63, 1941.
[0016097]6685.Schapira, F.; Schapira, G.; Dreyfus, J.-C.: La lesion enzymatique de la fructosurie benigne. Enzymol. Biol. Clin. 1: 170-175, 1961.
[0016098]6686.Zimmer, K.: I. Levulose im Harn eines Diabetikers. Dtsch. Med. Wochenschr. 2: 329 only, 1876.
[0016099]6687.Richards, F. M.; McKee, S. A.; Rajpar, M. H.; Cole, T. R. P.; Evans, D. G. R.; Jankowski, J. A.; McKeown, C.; Sanders, D. S. A.; Maher, E. R.: Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer. Hum. Molec. Genet. 8: 607-610, 1999.
[0016100]6688.Riethmacher, D.; Brinkmann, V.; Birchmeier, C.: A targeted mutation in the mouse Ecadherin gene results in defective preimplantation development. Proc. Nat. Acad. Sci. 92: 855-859, 1995.
[0016101]6689.Risinger, J. I.; Berchuck, A.; Kohler, M. F.; Boyd, J.: Mutations of the E-cadherin gene in human gynecologic cancers. Nature Genet. 7: 98-102, 1994.
[0016102]6690.Scherer, G.; Bausch, E.; Gaa, A.; von Deimling, O.: Gene mapping on mouse chromosome 8 by interspecific crosses: new data on a linkage group conserved on human chromosome 16q. Genomics 5: 275-282, 1989.
[0016103]6691.Sokoloff, B.: Predisposition to cancer in the Bonaparte family. Am. J. Surg. 40: 673-678, 1938.
[0016104]6692.Wheeler, J. M. D.; Warren, B. F.; Mortensen, N. J. M.; Kim, H. C.; Biddolph, S. C.; Elia, G.; Beck, N. E.; Williams, G. T.; Shepherd, N. A.; Bateman, A. C.; Bodmer, W. F.: An insight into the genetic pathway of adenocarcinoma of the small intestine. Gut 50: 218-223, 2002.
[0016105]6693.Yoon, K.-A.; Ku, J.-L.; Yang, H.-K.; Kim, W. H.; Park, S. Y.; Park, J.-G.: Germline mutations of E-cadherin gene in Korean familial gastric cancer patients. J. Hum. Genet. 44: 177-180, 1999.
[0016106]6694.Cybulsky, M.; Fries, J. W.; Williams, A. J.; Sultan, P.; Eddy, R. L.; Byers, M. G.; Shows, T. B.; Gimbrone, M. A., Jr.; Collins, T.: The human VCAM1 gene is assigned to chromosome 1p31-p32. (Abstract) Cytogenet. Cell Genet. 58: 1852, 1991.
[0016107]6695.Cybulsky, M. I.; Fries, J. W. U.; Williams, A. J.; Sultan, P.; Eddy, R.; Byers, M.; Shows, T.; Gimbrone, M. A., Jr.; Collins, T. : Gene structure, chromosomal location, and basis for alternative mRNA splicing of the human VCAM1 gene. Proc. Nat. Acad. Sci. 88: 7859-7863, 1991.
[0016108]6696.Kumar, A. G.; Dai, X. Y.; Kozak, C. A.; Mims, M. P.; Gotto, A. M.; Ballantyne, C. M.: Murine VCAM-1: molecular cloning, mapping, and analysis of a truncated form. J. Immun. 153: 4088-4098, 1994.
[0016109]6697.Bardwick, P. A.; Zvaifler, N. J.; Gill, G. N.; Newman, D.; Greenway, G. D.; Resnick, D. L.: Plasma cell dyscrasia with polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes: the POEMS syndrome. Report on two cases and a review of the literature. Medicine 59: 311-322, 1980.
[0016110]6698.Frangiskakis, J. M.; Ewart, A. K.; Morris, C. A.; Mervis, C. B.; Bertrand, J.; Robinson, B. F.; Klein, B. P.; Ensing, G. J.; Everett, L. A.; Green, E. D.; Proschel, C.; Gutowski, N. J.; Noble, M.; Atkinson, D. L.; Odelberg, S. J.; Keating, M. T.: LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition. Cell 86: 59-69, 1996.
[0016111]6699.Votruba, M.; Moore, A. T.; Bhattacharya, S. S.: Demonstration of a founder effect and fine mapping of dominant optic atrophy locus on 3q28-qter by linkage disequilibrium method: a study of 38 British Isles pedigrees. Hum. Genet. 102: 79-86, 1998.
[0016112]6700.Alhonen-Hongisto, L.; Leinonen, P.; Sinervirta, R.; Laine, R.; Winqvist, R.; Alitalo, K.; Janne, O. A.; Janne, J.: Mouse and human ornithine decarboxylase genes: methylation polymorphism and amplification. Biochem. J. 242: 205-210, 1987.
[0016113]6701.Brabant, M.; McConlogue, L.; van Daalen Wetters, T.; Coffino, P. : Mouse ornithine decarboxylase gene: cloning, structure, and expression. Proc. Nat. Acad. Sci. 85: 2200-2204, 1988.
[0016114]6702.Cox, D. R.; Trouillot, T.; Ashley, P. L.; Brabant, M.; Coffino, P.: A functional mouse ornithine decarboxylase gene (Odc) maps to chromosome 12: further evidence of homoeology between mouse chromosome 12 and the short arm of human chromosome 2. Cytogenet. Cell Genet. 48: 92-94, 1988.
[0016115]6703.Kasid, U.; Pfeifer, A.; Weichselbaum, R. R.; Dritschilo, A.; Mark, G. E.: The raf oncogene is associated with a radiation-resistant human laryngeal cancer. Science 237: 1039-1041, 1987.
[0016116]6704.Bandmann, O.; Davis, M. B.; Marsden, C. D.; Wood, N. W.: The human homologue of the weaver mouse gene in familial and sporadic Parkinson's disease. Neuroscience 72: 877-879, 1996.
[0016117]6705.Cohn, J. A.; Friedman, K. J.; Noone, P. G.; Knowles, M. R.; Silverman, L. M.; Jowell, P. S.: Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis. New Eng. J. Med. 339: 653-658, 1998.
[0016118]6706.Trent, J. M.; Rosenfeld, S. B.; Meyskens, F. L.: Chromosome 6q involvement in human malignant melanoma. Cancer Genet. Cytogenet. 9: 177-180, 1983.
[0016119]6707.Puig, S.; Ruiz, A.; Lazaro, C.; Castel, T.; Lynch, M.; Palou, J.; Vilalta, A.; Weissenbach, J.; Mascaro, J.-M.; Estivill, X.: Chromosome 9p deletions in cutaneous malignant melanoma tumors: the minimal deleted region involves markers outside the p16 (CDKN2) gene. Am. J. Hum. Genet. 57: 395-402, 1995.
[0016120]6708.Briggs, R. C.; Briggs, J. A.; Ozer, J.; Sealy, L.; Dworkin, L. L.; Kingsmore, S. F.; Seldin, M. F.; Kaur, G. P.; Athwal, R. S.; Dessypris, E. N.: The human myeloid cell nuclear differentiation antigen gene is one of at least two related interferon-inducible genes located on chromosome 1q that are expressed specifically in hematopoietic cells.. Blood 83: 2153-2162, 1994.
[0016121]6709.Daheron, L.; Veinstein, A.; Brizard, F.; Drabkin, H.; Lacotte, L.; Guilhot, F.; Larsen, C. J.; Brizard, A.; Roche, J.: Human LPP gene is fused to MLL in a secondary acute leukemia with a t(3;11)(q28;q23). Genes Chromosomes Cancer 31: 382-389, 2001.
[0016122]6710.Domer, P. H.; Fakharzadeh, S. S.; Chen, C.-S.; Jockel, J.; Johansen, L.; Silverman, G. A.; Kersey, J. H.; Korsmeyer, S. J.: Acute mixed-lineage leukemia t(4;11)(q21;q23) generates an MLLAF4 fusion product. Proc. Nat. Acad. Sci. 90: 7884-7888, 1993.
[0016123]6711.Gu, Y.; Nakamura, T.; Alder, H.; Prasad, R.; Canaani, O.; Cimino, G.; Croce, C. M.; Canaani, E.: The t(4;11) chromosome translocation of human acute leukemias fuses the ALL-1 gene, related to Drosophila trithorax, to the AF-4 gene. Cell 71: 701-708, 1992.
[0016124]6712.Megonigal, M. D.; Rappaport, E. F.; Jones, D. H.; Williams, T. M.; Lovett, B. D.; Kelly, K. M.; Lerou, P. H.; Moulton, T.; Budarf, M. L.; Felix, C. A.: t(11;22)(q23;q11.2) in acute myeloid leukemia of infant twins fuses MLL with hCDCrel, a cell division cycle gene in the genomic region of deletion in DiGeorge and velocardiofacial syndromes. Proc. Nat. Acad. Sci. 95: 6413-6418, 1998.
[0016125]6713.Nakamura, T.; Alder, H.; Gu, Y.; Prasad, R.; Canaani, O.; Kamada, N.; Gale, R. P.; Lange, B.; Crist, W. M.; Nowell, P. C.; Croce, C. M.; Canaani, E.: Genes on chromosomes 4, 9, and 19 involved in 11q23 abnormalities in acute leukemia share sequence homology and/or common motifs. Proc. Nat. Acad. Sci. 90: 4631-4635, 1993.
[0016126]6714.Raffini, L. J.; Slater, D. J.; Rappaport, E. F.; Lo Nigro, L.; Cheung, N.-K. V.; Biegel, J. A.; Nowell, P. C.; Lange, B. J.; Felix, C. A.: Panhandle and reverse-panhandle PCR enable cloning of der(11) and der(other) genomic breakpoint junctions of MLL translocations and identify complex translocation of MLL, AF-4, and CDK6. Proc. Nat. Acad. Sci. 99: 4568-4573, 2002.
[0016127]6715.Hickok, N. J.; Seppanen, P. J.; Gunsalus, G. L.; Janne, O. A.: Complete amino acid sequence of human ornithine decarboxylase deduced from complementary DNA. DNA 6: 179-187, 1987.
[0016128]6716.Michalak, M.; Quackenbush, E. J.; Letarte, M.: Inhibition of Na+/Ca2+ exchanger activity in cardiac and skeletal muscle sarcolemmal vesicles by monoclonal antibody 44D7. J. Biol. Chem. 261: 92-95, 1986.
[0016129]6717.Posillico, J. T.; Srikanta, S.; Brown, E. M.; Eisenbarth, G. S. : The 4F2 cell surface protein modulates intracellular calcium. (Abstract) Clin. Res. 33: 385A only, 1985.
[0016130]6718.Posillico, J. T.; Srikanta, S.; Eisenbarth, G.; Quaranta, V.; Kajiji, S.; Brown, E. M.: Binding of monoclonal antibody (4F2) to its cell surface antigen on dispersed adenomatous parathyroid cells raises cytosolic calcium and inhibits parathyroid hormone secretion. J. Clin. Endocr. Metab. 64: 43-50, 1987.
[0016131]6719.Quackenbush, E.; Clabby, M.; Gottesdiener, K. M.; Barbosa, J.; Jones, N. H.; Strominger, J. L.; Speck, S.; Leiden, J. M.: Molecular cloning of complementary DNAs encoding the heavy chain of the human 4F2 cell-surface antigen: a type II membrane glycoprotein involved in normal and neoplastic cell growth. Proc. Nat. Acad. Sci. 84: 6526-6530, 1987. Note: Correction: Proc. Nat. Acad. Sci. 84: 6526-6530, 1987.
[0016132]6720.McQuibban, G. A.; Gong, J.-H.; Tam, E. M.; McCulloch, C. A. G.; Clark-Lewis, I.; Overall, C. M.: Inflammation dampened by gelatinase A cleavage of monocyte chemoattractant protein-3. Science 289: 1202-1206, 2000.
[0016133]6721.Fu, Y.-H.; Pizzuti, A.; Fenwick, R. G., Jr.; King, J.; Rajnarayan, S.; Dunne, P. W.; Dubel, J.; Nasser, G. A.; Ashizawa, T.; de Jong, P.; Wieringa, B.; Korneluk, R.; Perryman, M. B.; Epstein, H. F.; Caskey, C. T.: An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 255: 1256-1258, 1992.
[0016134]6722.Marsden, P. A.; Heng, H. H. Q.; Scherer, S. W.; Stewart, R. J.; Hall, A. V.; Shi, X.-M.; Tsui, L.-C.; Schappert, K. T.: Structure and chromosomal localization of the human constitutive endothelial nitric oxide synthase gene. J. Biol. Chem. 268: 17478-17488, 1993.
[0016135]6723.Miyamoto, Y.; Saito, Y.; Nakayama, M.; Shimasaki, Y.; Yoshimura, T.; Yoshimura, M.; Harada, M.; Kajiyama, N.; Kishimoto, I.; Kuwahara, K.; Hino, J.; Ogawa, E.; Hamanaka, I.; Kamitani, S.; Takahashi, N.; Kawakami, R.; Kangawa, K.; Yasue, H.; Nakao, K.: Replication protein A1 reduces transcription of the endothelial nitric oxide synthase gene containing a -786T-C mutation associated with coronary spastic angina. Hum. Molec. Genet. 9: 2629-2637, 2000.
[0016136]6724.Nakayama, M.; Yasue, H.; Yoshimura, M.; Shimasaki, Y.; Kugiyama, K.; Ogawa, H.; Motoyama, T.; Saito, Y.; Ogawa, Y.; Miyamoto, Y.; Nakao, K.: T(-786)-C mutation in the 5-primeflanking region of the endothelial nitric oxide synthase gene is associated with coronary spasm. Circulation 99: 2864-2870, 1999.
[0016137]6725.Persu, A.; Stoenoiu, M. S.; Messiaen, T.; Davila, S.; Robino, C.; El-Khattabi, O.; Mourad, M.; Horie, S.; Feron, O.; Balligand, J.-L.; Wattiez, R.; Pirson, Y.; Chaveau, D.; Lens, X. M.; Devuyst, O.: Modifier effect of ENOS in autosomal dominant polycystic kidney disease. Hum. Molec. Genet. 11: 229-241, 2002.
[0016138]6726.Bloch, K. D.; Wolfram, J. R.; Brown, D. M.; Roberts, J. D., Jr.; Zapol, D. G.; Lepore, J. J.; Filippov, G.; Thomas, J. E.; Jacob, H. J.; Bloch, D. B.: Three members of the nitric oxide synthase II gene family (NOS2A, NOS2B, and NOS2C) colocalize to human chromosome 17. Genomics 27: 526-530, 1995.
[0016139]6727.Chartrain, N. A.; Geller, D. A.; Koty, P. P.; Sitrin, N. F.; Nussler, A. K.; Hoffman, E. P.; Billiar, T. R.; Hutchinson, N. I.; Mudgett, J. S.: Molecular cloning, structure, and chromosomal localization of the human inducible nitric oxide synthase gene. J. Biol. Chem. 269: 6765-6772, 1994.
[0016140]6728.Choi, H.-S.; Rai, P. R.; Chu, H. W.; Cool, C.; Chan, E. D.: Analysis of nitric oxide synthase and nitrotyrosine expression in human pulmonary tuberculosis. Am. J. Resp. Crit. Care Med. 166: 178-186, 2002.
[0016141]6729.Facchetti, F.; Vermi, W.; Fiorentini, S.; Chilosi, M.; Caruso, A.; Duse, M.; Notarangelo, L. D.; Badolato, R.: Expression of inducible nitric oxide synthase in human granulomas and histiocytic reactions. Am. J. Path. 154: 145-152, 1999.
[0016142]6730.Pyronnet, S.; Pradayrol, L.; Sonenberg, N.: A cell cycle-dependent internal ribosome entry site. Molec. Cell 5: 607-616, 2000.
[0016143]6731.Radford, D. M.; Nakai, H.; Byers, M. G.; Eddy, R. L.; Haley, L. L.; Henry, W. M.; Shows, T. B.: Mapping the ornithine decarboxylase gene (ODC1 and ODC2) to 2p25 and 7q31-qter, respectively. (Abstract) Cytogenet. Cell Genet. 46: 678 only, 1987.
[0016144]6732.Villani, V.; Coffino, P.; D'Eustachio, P.: Linkage genetics of mouse ornithine decarboxylase (Odc). Genomics 5: 636-638, 1989.
[0016145]6733.Winqvist, R.; Makela, T. P.; Seppanen, P.; Janne, O. A.; Alhonen-Hongisto, L.; Janne, J.; Grzeschik, K.-H.; Alitalo, K.: Human ornithine decarboxylase sequences map to chromosome regions 2pter-p23 and 7cen-qter but are not coamplified with the NMYC oncogene. Cytogenet. Cell Genet. 42: 133-140, 1986.
[0016146]6734.Yang-Feng, T. L.; Barton, D. E.; Thelander, L.; Lewis, W. H.; Srinivasan, P. R.; Francke, U.: Ribonucleotide reductase M2 subunit sequences mapped to four different chromosomal sites in humans and mice: functional locus identified by its amplification in hydroxyurea-resistant cell lines. Genomics 1: 77-86, 1987.
[0016147]6735.Clark, C. C.; Cohen, I.; Eichstetter, I.; Cannizzaro, L. A.; McPherson, J. D.; Wasmuth, J. J.; Iozzo, R. V.: Molecular cloning of the human proto-oncogene Wnt-5A and mapping of the gene (WNT5A) to chromosome 3p14-p21. Genomics 18: 249-260, 1993.
[0016148]6736.He, X.; Saint-Jeannet, J.-P.; Wang, Y.; Nathans, J.; Dawid, I.; Varmus, H.: A member of the frizzled protein family mediating axis induction by Wnt-5A. Science 275: 1652-1654, 1997.
[0016149]6737.Adelaide, J.; Mattei, M.-G.; Marics, I.; Raybaud, F.; Planche, J.; De Lapeyriere, O.; Birnbaum, D.: Chromosomal localization of the hst oncogene and its co-amplification with the int.2 oncogene in a human melanoma. Oncogene 2: 413-416, 1988.
[0016150]6738.Dudley, A. T.; Ros, M. A.; Tabin, C. J.: A re-examination of proximodistal patterning during vertebrate limb development. Nature 418: 539-544, 2002.
[0016151]6739.Feldman, B.; Poueymirou, W.; Papaionnou, V. E.; DeChiara, T. M.; Goldfarb, M.: Requirement of FGF-4 for postimplantation mouse development. Science 267: 246-249, 1995.
[0016152]6740.Huebner, K.; Ferrari, A. C.; Delli Bovi, P.; Croce, C. M.; Basilico, C.: The FGF-related oncogene, K-FGF, maps to human chromosome region 11q13, possibly near int-2. Oncogene Res. 3: 263-270, 1988.
[0016153]6741.Sakamoto, H.; Mori, M.; Taira, M.; Yoshida, T.; Matsukawa, S.; Shimizu, K.; Sekiguchi, M.; Terada, M.; Sugimura, T.: Transforming gene from human stomach cancers and a noncancerous portion of stomach mucosa. Proc. Nat. Acad. Sci. 83: 3997-4001, 1986.
[0016154]6742.Sun, X.; Lewandoski, M.; Meyers, E. N.; Liu, Y.-H.; Maxson, R. E., Jr.; Martin, G. R.: Conditional inactivation of Fgf4 reveals complexity of signalling during limb bud development. Nature Genet. 25: 83-86, 2000.
[0016155]6743.Sun, X.; Mariani, F. V.; Martin, G. R.: Functions of FGF signalling from the apical ectodermal ridge in limb development. Nature 418: 501-508, 2002.
[0016156]6744.Dusetti, N. J.; Frigerio, J.-M.; Fox, M. F.; Swallow, D. M.; Dagorn, J.-C.; Iovanna, J. L.: Molecular cloning, genomic organization, and chromosomal localization of the human pancreatitisassociated protein (PAP) gene. Genomics 19: 108-114, 1994.
[0016157]6745.Dusetti, N. J.; Frigerio, J.-M.; Keim, V.; Dagorn, J.-C.; Iovanna, J. L.: Structural organization of the gene encoding the rat pancreatitis-associated protein: analysis of its evolutionary history reveals an ancient divergence from the other carbohydrate-recognition domain-containing genes. J. Biol. Chem. 268: 14470-14475, 1993.
[0016158]6746.Dusetti, N. J.; Frigerio, J. M.; Szpirer, C.; Dagorn, J. C.; Iovanna, J. L.: Cloning, expression and chromosomal localization of the rat pancreatitis-associated protein III gene. Biochem. J. 307: 9-16, 1995.
[0016159]6747.Frigerio, J.-M.; Dusetti, N. J.; Garrido, P.; Dagorn, J.-C.; Iovanna, J. L.: The pancreatitis associated protein III (PAP III), a new member of the PAP gene family. Biochim. Biophys. Acta 1216: 329-331, 1993.
[0016160]6748.Frigerio, J.-M.; Dusetti, N. J.; Keim, V.; Dagorn, J.-C.; Iovanna, J. L.: Identification of a second rat pancreatitis-associated protein: messenger RNA cloning, gene structure, and expression during acute pancreatitis. Biochemistry 32: 9236-9241, 1993.
[0016161]6749.Itoh, T.; Sawabu, N.; Motoo, Y.; Funakoshi, A.; Teraoka, H.: The human pancreatitisassociated protein (PAP)-encoding gene generates multiple transcripts through alternative use of 5-prime exons. Gene 155: 283-287, 1995.
[0016162]6750.Lasserre, C.; Simon, M. T.; Ishikawa, H.; Diriong, S.; Nguyen, V. C.; Christa, L.; Vernier, P.; Brechot, C.: Structural organization and chromosomal localization of a human gene (HIP/PAP) encoding a C-type lectin overexpressed in primary liver cancer. Europ. J. Biochem. 224: 29-38, 1994.
[0016163]6751.Orelle, B.; Keim, V.; Masciotra, L.; Dagorn, J.-C.; Iovanna, J.-L. : Human pancreatitisassociated protein: messenger RNA cloning and expression in pancreatic diseases. J. Clin. Invest. 90: 2284-2291, 1992.
[0016164]6752.Vasseur, S.; Frigerio, J. M.; Dusetti, N. J.; Keim, V.; Dagorn, J. C.; Iovanna, J. L.: Two transcripts are generated from the pancreatitis associated protein II gene by alternative splicing in the 5-prime untranslated region. Biochim. Biophys. Acta 1261: 272-274, 1995.
[0016165]6753.Julier, C.; Lathrop, M.; Lalouel, J. M.; Kaplan, J. C.: Use of multilocus tests of gene order: example for chromosome 22. (Abstract) Cytogenet. Cell Genet. 40: 663-664, 1985.
[0016166]6754.Julier, C.; Lathrop, M.; Lalouel, J. M.; Reghis, A.; Szajnert, M. F.; Kaplan, J. C.: New restriction fragment length polymorphisms on human chromosome 22 at loci SIS, MB and IGLV. (Abstract) Cytogenet. Cell Genet. 40: 664 only, 1985.
[0016167]6755.Julier, C.; Reghis, A.; Szajnert, M. F.; Kaplan, J. C.; Lathrop, G. M.; Lalouel, J. M.: A preliminary linkage map of human chromosome 22. (Abstract) Cytogenet. Cell Genet. 40: 665 only, 1985.
[0016168]6756.Nakamura, Y.; Leppert, M.; O'Connell, P.; Wolff, R.; Holm, T.; Culver, M.; Martin, C.; Fujimoto, E.; Hoff, M.; Kumlin, E.; White, R.: Variable number of tandem repeat (VNTR) markers for human gene mapping. Science 235: 1616-1622, 1987.
[0016169]6757.Romero-Herrera, A. E.; Lehmann, H.: The amino acid sequence of human myoglobin and its minor fractions. Proc. Roy. Soc. London 186B: 249-279, 1974.
[0016170]6758.Romero-Herrera, A. E.; Lehmann, H.: Primary structure of human myoglobin. Nature N.B. 232: 149-152, 1971.
[0016171]6759.Weller, P.; Jeffreys, A. J.; Wilson, V.; Blanchetot, A.: Organization of the human myoglobin gene. EMBO J. 3: 439-446, 1984.
[0016172]6760.Wyman, A. R.; White, R.: A highly polymorphic locus in human DNA. Proc. Nat. Acad. Sci. 77: 6754-6758, 1980.
[0016173]6761.Chamberlain, J. S.; vanTuinen, P.; Reeves, A. A.; Philip, B. A.; Caskey, C. T.: Isolation of cDNA clones for the catalytic gamma subunit of mouse muscle phosphorylase kinase: expression of mRNA in normal and mutant Phk mice. Proc. Nat. Acad. Sci. 84: 2886-2890, 1987.
[0016174]6762.Jones, T. A.; da Cruz e Silva, E. F.; Spurr, N. K.; Sheer, D.; Cohen, P. T.: Localization of the gene encoding the catalytic gamma subunit of phosphorylase kinase to human chromosome bands 7p12-q21. Biochim. Biophys. Acta 1048: 24-29, 1990.
[0016175]6763.Maichele, A. J.; Chamberlain, J. S.: The gamma phosphorylase kinase gene, Phkg, maps to mouse chromosome 5 near Gus. Mammalian Genome 5: 15-18, 1994.
[0016176]6764.Wehner, M.; Kilimann, M. W.: Human cDNA encoding the muscle isoform of the phosphorylase kinase gamma subunit (PHKG1). Hum. Genet. 96: 616-618, 1995.
[0016177]6765.Burwinkel, B.; Shiomi, S.; Al Zaben, A.; Kilimann, M. W.: Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis. Hum. Molec. Genet. 7: 149-154, 1998.
[0016178]6766.Burwinkel, B.; Tanner, M. S.; Kilimann, M. W.: Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R). (Letter) J. Med. Genet. 37: 376-377, 2000.
[0016179]6767.Clark, D.; Haynes, D.: The glycogen storage disease (gsd/gsd) rat. Curr. Top. Cell. Regul. 29: 217-263, 1988.
[0016180]6768.Hanks, S. K.: Messenger ribonucleic acid encoding an apparent isoform of phosphorylase kinase catalytic subunit is abundant in the adult testis. Molec. Endocr. 3: 110-116, 1989.
[0016181]6769.Maichele, A. J.; Burwinkel, B.; Maire, I.; Sovik, O.; Kilimann, M. W.: Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans. Nature Genet. 14: 337-340, 1996.
[0016182]6770.Sovik, O.; deBarsy, T.; Maehle, B.: Phosphorylase kinase deficiency: severe glycogen storage disease with evidence of autosomal recessive mode of inheritance. (Letter) Europ. J. Pediat. 139: 210 only, 1982.
[0016183]6771.Almarri, A.; Batchelor, J. R.: HLA and hepatitis B infection. Lancet 344: 1194-1195, 1994.
[0016184]6772.Ayala, F. J.; Escalante, A.; O'hUigin, C.; Klein, J.: Molecular genetics of speciation and human origins. Proc. Nat. Acad. Sci. 91: 6787-6794, 1994.
[0016185]6773.Bell, J. I.; Estess, P.; St. John, T.; Saiki, R.; Watling, D. L.; Erlich, H. A.; McDevitt, H. O.: DNA sequence and characterization of human class II major histocompatibility complex beta chains from the DR1 haplotype. Proc. Nat. Acad. Sci. 82: 3405-3409, 1985.
[0016186]6774.Bodmer, J. G.; Marsh, S. G. E.; Albert, E.: Nomenclature for factors of the HLA system, 1989. Immun. Today 11: 3-10, 1990.
[0016187]6775.Bodmer, J. G.; Marsh, S. G. E.; Albert, E. D.; Bodmer, W. F.; Bontrop, R. E.; Charron, D.; Dupont, B.; Erlich, H. A.; Fauchet, R.; Mach, B.; Mayr, W. R.; Parham, P.; Sasazuki, T.; Schreuder, G. M. T.; Strominger, J. L.; Svejgaard, A.; Terasaki, P. I.: Nomenclature for factors of the HLA system, 1996. Europ. J. Immunogenet. 24: 105-151, 1997.
[0016188]6776.Bodmer, J. G.; Marsh, S. G. E.; Albert, E. D.; Bodmer, W. F.; Dupont, B.; Erlich, H. A.; Mach, B.; Mayr, W. R.; Parham, P.; Sasazuki, T.; Schreuder, G. M. T.; Strominger, J. L.; Svejgaard, A.; Terasaki, P. I.: Nomenclature for factors of the HLA system, 1994. Tissue Antigens 44: 1-18, 1994.
[0016189]6777.Bodmer, W. F.; Bodmer, J. G.; Batchelor, J. R.; Festenstein, H.; Morris, P. J.: Histocompatibility Testing 1977. Copenhagen: Munksgaard (pub.) 1978.
[0016190]6778.Boss, J. M.; Strominger, J. L.: Cloning and sequence analysis of the human major histocompatibility complex gene DC-3-beta. Proc. Nat. Acad. Sci. 81: 5199-5203, 1984.
[0016191]6779.Charron, D. J.; McDevitt, H. O.: Analysis of HLA-D region-associated molecules with monoclonal antibody. Proc. Nat. Acad. Sci. 76: 6567-6571, 1979.
[0016192]6780.Chelladurai, M.; Honn, K. V.; Walz, D. A.: HLA-DR is a procoagulant. Biochem. Biophys. Res. Commun. 178: 467-473, 1991.
[0016193]6781.Corte, G.; Damiani, G.; Calabi, F.; Fabbi, M.; Bargellesi, A. : Analysis of HLA-DR polymorphism by two-dimensional peptide mapping. Proc. Nat. Acad. Sci. 78: 534-538, 1981.
[0016194]6782.Das, H. K.; Lawrance, S. K.; Weissman, S. M.: Structure and nucleotide sequence of the heavy chain gene of HLA-DR. Proc. Nat. Acad. Sci. 80: 3543-3547, 1983.
[0016195]6783.Delovitch, T. L.; Falk, J. A.: Evidence for structural homology between murine and human Ia antigens. Immunogenetics 8: 405-418, 1979.
[0016196]6784.Dunham, I.; Sargent, C. A.; Dawkins, R. L.; Campbell, R. D.: An analysis of variation in the long-range genomic organization of the human major histocompatibility complex class II region by pulsed-field gel electrophoresis. Genomics 5: 787-796, 1989.
[0016197]6785.Erlich, H. A.; Stetler, D.; Saiki, R.; Gladstone, P.; Pious, D. : Mapping of the genes encoding the HLA-DR alpha chain and the HLA-related antigens to a chromosome 6 deletion by using genomic blotting. Proc. Nat. Acad. Sci. 80: 2300-2304, 1983.
[0016198]6786.Ferber, K. M.; Keller, E.; Albert, E. D.; Ziegler, A.-G.: Predictive value of human leukocyte antigen class II typing for the development of islet autoantibodies and insulin-dependent diabetes postpartum in women with gestational diabetes. J. Clin. Endocr. Metab. 84: 2342-2348, 1999.
[0016199]6787.Fuller, T. C.; Einarson, M.; Pinto, C.; Ahern, A.; Yunis, E. J. : Genetic evidence that HLA-DR (Ia) specifications include multiple HLA-D determinants on a single haplotype. Transplant. Proc. 10: 781-784, 1978.
[0016200]6788.Hardy, D. A.; Bell, J. I.; Long, E. O.; Lindsten, T.; McDevitt, H. O.: Mapping of the class II region of the human major histocompatibility complex by pulsed-field gel electrophoresis. Nature 323: 453-455, 1986.
[0016201]6789.Hui, K.; Festenstein, H.; de Klein, A.; Grosveld, G.; Grosveld, F.: HLA-DR genotyping by restriction fragment length polymorphism analyses. Immunogenetics 22: 231-239, 1985.
[0016202]6790.Kaufman, J. F.; Strominger, J. L.: HLA-DR light chain has a polymorphic N-terminal region and a conserved immunoglobulin-like C-terminal region. Nature 297: 694-697, 1982.
[0016203]6791.Korman, A. J.; Auffray, C.; Schamboeck, A.; Strominger, J. L. : The amino acid sequence and gene organization of the heavy chain of the HLA-DR antigen: homology to immunoglobulins. Proc. Nat. Acad. Sci. 79: 6013-6017, 1982.
[0016204]6792.Korman, A. J.; Knudsen, P. J.; Kaufman, J. F.; Strominger, J. L.: cDNA clones for the heavy chain of HLA-DR antigens obtained after immunopurification of polysomes by monoclonal antibody. Proc. Nat. Acad. Sci. 79: 1844-1848, 1982.
[0016205]6793.Kratzin, H.; Yang, C.; Gotz, H.; Pauly, E.; Kolbel, S.; Egert, G.; Thinnes, F. P.; Wernet, P.; Altevogt, P.; Hilschmann, N.: Primarstruktur menschlicher Histokompatibilitatsantigene der Klasse II. 1. Mitteilung: aminosauresequenz der N-terminalen 198 Reste der beta-Kette des HLA-Dw2,2;DR2,2-Alloantigens. Hoppe Seylers Z. Physiol. Chem. 362: 1665-1669, 1981.
[0016206]6794.Lamm, L. U.: Another segregant series, DR, in HLA. Cytogenet. Cell Genet. 22: 309-312, 1978.
[0016207]6795.Larhammar, D.; Schenning, L.; Gustafsson, K.; Wiman, K.; Claesson, L.; Rask, L.; Peterson, P. A.: Complete amino acid sequence of an HLA-DR antigen-like beta chain as predicted from the nucleotide sequence: similarities with immunoglobulins and HLA-A, -B, and -C antigens. Proc. Nat. Acad. Sci. 79: 3687-3691, 1982.
[0016208]6796.Lee, J. S.; Trowsdale, J.; Bodmer, W. F.: cDNA clones coding for the heavy chain of human HLA-DR antigen. Proc. Nat. Acad. Sci. 79: 545-549, 1982.
[0016209]6797.Levine, F.; Mach, B.; Long, E.; Erlich, H.; Pious, D.: Mapping in the HLA-D region with deletion variants and cloned genes. (Abstract) Cytogenet. Cell Genet. 37: 523 only, 1984.
[0016210]6798.Mann, D. L.; Abelson, L.; Harris, S. D.; Amos, D. B.: Second genetic locus in the HLA region for human B-cell alloantigens. Nature 259: 145-146, 1976.
[0016211]6799.Mann, D. L.; Abelson, L.; Henkart, P.; Harris, S. D.; Amos, D. B.: Specific Blymphocyte alloantigens linked to HLA. Proc. Nat. Acad. Sci. 72: 5103-5106, 1975.
[0016212]6800.Markert, M. L.; Cresswell, P.: Polymorphism of human B-cell alloantigens: evidence for three loci within the HLA system. Proc. Nat. Acad. Sci. 77: 6101-6104, 1980.
[0016213]6801.Mayer, W. E.; O'hUigin, C.; Klein, J.: Resolution of the HLA-DRB6 puzzle: a case of grafting a de novo-generated exon on an existing gene. Proc. Nat. Acad. Sci. 90: 10720-10724, 1993.
[0016214]6802.McDevitt, H. O.; Bodmer, W. F.: HLA, immune-response genes, and disease. Lancet I: 1269-1275, 1974.
[0016215]6803.Disteche, C. M.; Adler, D. A.; Tedder, T. F.; Saito, H.: Mapping of the genes for LYAM1, a new lymphocyte adhesion molecule, and for LAR, a new receptor-linked protein tyrosine phosphatase, to human chromosome 1. (Abstract) Cytogenet. Cell Genet. 51: 990 only, 1989.
[0016216]6804.Pentchev, P. G.; Comly, M. E.; Kruth, H. S.; Patel, S.; Proestel, M.; Weintroub, H.: The cholesterol storage disorder of the mutant BALB/c mouse: a primary genetic lesion closely linked to defective esterification of exogenously derived cholesterol and its relationship to human type C Niemann-Pick disease. J. Biol. Chem. 261: 2772-2777, 1986.
[0016217]6805.Pentchev, P. G.; Comly, M. E.; Kruth, H. S.; Vanier, M. T.; Wenger, D. A.; Patel, S.; Brady, R. O.: A defect in cholesterol esterification in Niemann-Pick disease (type C) patients. Proc. Nat. Acad. Sci. 82: 8247-8251, 1985.
[0016218]6806.Pentchev, P. G.; Comly, M. E.; Vanier, M. T.; Kruth, H. S.; Patel, S.; Brady, R. O.: Type C Niemann-Pick disease: a defect in intracellular esterification. (Abstract) Am. J. Hum. Genet. 37: A15, 1985.
[0016219]6807.Pentchev, P. G.; Kruth, H. S.; Comly, M. E.; Butler, J. D.; Vanier, M. T.; Wenger, D. A.; Patel, S.: Type C Niemann-Pick disease: a parallel loss of regulatory responses in both the uptake and esterification of low-density lipoprotein-derived cholesterol in cultured fibroblasts. J. Biol. Chem. 261: 16775-16780, 1986.
[0016220]6808.Ribeiro, I.; Marcao, A.; Amaral, O.; Sa Miranda, M. C.; Vanier, M. T.; Millat, G.: Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations. Hum. Genet. 109: 24-32, 2001.
[0016221]6809.Roff, C. F.; Goldin, E.; Comly, M. E.; Cooney, A.; Brown, A.; Vanier, M. T.; Miller, S. P. F.; Brady, R. O.; Pentchev, P. G.: Type C Niemann-Pick disease: use of hydrophobic amines to study defective cholesterol transport. Dev. Neurosci. 13: 315-319, 1991.
[0016222]6810.Sakai, Y.; Miyawaki, S.; Shimizu, A.; Ohno, K.; Watanabe, T.: A molecular genetic linkage map of mouse chromosome 18, including spm, Grl-1, Fim-2/c-fms, and Mbp. Biochem. Genet. 29: 103-113, 1991.
[0016223]6811.Schedin, S.; Sindelar, P. J.; Pentchev, P.; Brunk, U.; Dallner, G.: Peroxisomal impairment in Niemann-Pick type C disease. J. Biol. Chem. 272: 6245-6251, 1997.
[0016224]6812.Sokol, J.; Blanchette-Mackie, E. J.; Kruth, H. S.; Dwyer, N. K.; Amende, L. M.; Butler, J. D.; Robinson, E.; Patel, S.; Brady, R. O.; Comly, M. E.; Vanier, M. T.; Pentchev, P. G.: Type C Niemann-Pick disease: lysosomal accumulation and defective intracellular mobilization of low density lipoprotein cholesterol. J. Biol. Chem. 263: 3411-3417, 1988.
[0016225]6813.Steinberg, S. J.; Ward, C. P.; Fensom, A. H.: Complementation studies in Niemann-Pick disease type C indicate the existence of a second group. J. Med. Genet. 31: 317-320, 1994.
[0016226]6814.Sun, X.; Marks, D. L.; Park, W. D.; Wheatley, C. L.; Puri, V.; O'Brien, J. F.; Kraft, D. L.; Lundquist, P. A.; Patterson, M. C.; Pagano, R. E.; Snow, K.: Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1. Am. J. Hum. Genet. 68: 1361-1372, 2001.
[0016227]6815.Thomas, G. H.; Tuck-Muller, C. M.; Miller, C. S.; Reynolds, L. W.: Correction of sphingomyelinase deficiency in Niemann-Pick type C fibroblasts by removal of lipoprotein fraction from culture media. J. Inherit. Metab. Dis. 12: 139-151, 1989.
[0016228]6816.Turpin, J. C.; Masson, M.; Baumann, N.: Clinical aspects of Niemann-Pick type C disease in the adult. Dev. Neurosci. 13: 304-306, 1991.
[0016229]6817.Vanier, M. T.; Duthel, S.; Rodriguez-Lafrasse, C.; Pentchev, P.; Carstea, E. D.: Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis. Am. J. Hum. Genet. 58: 118-125, 1996.
[0016230]6818.Vanier, M. T.; Rodriguez-Lafrasse, C.; Rousson, R.; Duthel, S.; Harzer, K.; Pentchev, P. G.; Revol, A.; Louisot, P.: Type C Niemann-Pick disease: biochemical aspects and phenotypic heterogeneity. Dev. Neurosci. 13: 307-314, 1991.
[0016231]6819.Vanier, M. T.; Wenger, D. A.; Comly, M. E.; Rousson, R.; Brady, R. O.; Pentchev, P. G.: Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification: a collaborative study on 70 patients. Clin. Genet. 33: 331-348, 1988.
[0016232]6820.Watari, H.; Blanchette-Mackie, E. J.; Dwyer, N. K.; Glick, J. M.; Patel, S.; Neufeld, E. B.; Brady, R. O.; Pentchev, P. G.; Strauss, J. F., III: Niemann-Pick C1 protein: obligatory roles for Nterminal domains and lysosomal targeting in cholesterol mobilization. Proc. Nat. Acad. Sci. 96: 805-810, 1999.
[0016233]6821.Xie, C.; Turley, S. D.; Dietschy, J. M.: Cholesterol accumulation in tissues of the Niemann-Pick type C mouse is determined by the rate of lipoprotein-cholesterol uptake through the coated-pit pathway in each organ. Proc. Nat. Acad. Sci. 96: 11992-11997, 1999.
[0016234]6822.Yamamoto, T.; Nanba, E.; Ninomiya, H.; Higaki, K.; Taniguchi, M.; Zhang, H.; Akaboshi, S.; Watanabe, Y.; Takeshima, T.; Inui, K.; Okada, S.; Tanaka, A.; Sakuragawa, N.; Millat, G.; Vanier, M. T.; Morris, J. A.; Pentchev, P. G.; Ohno, K.: NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C. Hum. Genet. 105: 10-16, 1999.
[0016235]6823.Wijmenga, C.; Hansen, R. S.; Gimelli, G.; Bjorck, E. J.; Davies, E. G.; Valentine, D.; Belohradsky, B. H.; van Dongen, J. J.; Smeets, D. F. C. M.; van den Heuvel, L. P. W. J.; Luyten, J. A. F. M.; Strengman, E.; Weemaes, C.; Pearson, P. L.: Genetic variation in ICF syndrome: evidence for genetic heterogeneity. Hum. Mutat. 16: 509-517, 2000.
[0016236]6824.Ehrlich, M.; Buchanan, K. L.; Tsien, F.; Jiang, G.; Sun, B.; Uicker, W.; Weemaes, C. M. R.; Smeets, D.; Sperling, K.; Belohradsky, B. H.; Tommerup, N.; Misek, D. E.; Rouillard, J.-M.; Kuick, R.; Hanash, S. M.: DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes. Hum. Molec. Genet. 10: 2917-2931, 2001.
[0016237]6825.Barash, V.; Mandel, H.; Sella, S.; Geiger, R.: 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: biochemical studies and family investigation of four generations. J. Inherit. Metab. Dis. 13: 156-164, 1990.
[0016238]6826.Berry, H. K.; Suchy, F. J.; Norman, E. J.: HMG CoA lyase deficiency in double first cousins: relation of leucine defect to fat metabolism. (Abstract) Am. J. Hum. Genet. 33: 37A, 1981.
[0016239]6827.Duran, M.; Shutgens, R. B. H.; Ketel, A.; Heymans, H.; Berntssen, M. W. J.; Ketting, D.; Wadman, S. K.: 3-Hydroxy-3-methylglutaryl coenzyme A lyase deficiency: postnatal management following prenatal diagnosis by analysis of maternal urine. J. Pediat. 95: 1004-1007, 1979.
[0016240]6828.Faull, K.; Bolton, P.; Halpern, B.; Hammond, J.; Danks, D. M.; Hahnel, R.; Wilkinson, S. P.; Wysocki, S. J.; Masters, P. L.: Patient with defect in leucine metabolism. (Letter) New Eng. J. Med. 294: 1013, 1976.
[0016241]6829.Faull, K. F.; Bolton, P. D.; Halpern, B.; Hammond, J.; Danks, D. M.: The urinary organic acid profile associated with 3-hydroxy-3-methylglutaric aciduria. Clin. Chim. Acta 73: 553-559, 1976.
[0016242]6830.Gibson, K. M.; Breuer, J.; Kaiser, K.; Nyhan, W. L.; McCoy, E. E.; Ferreira, P.; Greene, C. L.; Blitzer, M. G.; Shapira, E.; Reverte, F.; Conde, C.; Bagnell, P.; Cole, D. E. C.: 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: report of five new patients. J. Inherit. Metab. Dis. 11: 76-87, 1988.
[0016243]6831.Gibson, K. M.; Breuer, J.; Nyhan, W. L.: 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients. Europ. J. Pediat. 148: 180-186, 1988.
[0016244]6832.Leonard, J. V.; Seakins, J. W. T.; Griffin, N. K.: Beta-hydroxy-methylglutaricaciduria presenting as Reye's syndrome. (Letter) Lancet I: 680, 1979.
[0016245]6833.Mitchell, G. A.; Ozand, P. T.; Robert, M.-F.; Ashmarina, L.; Roberts, J.; Gibson, K. M.; Wanders, R. J.; Wang, S.; Chevalier, I.; Plochl, R.; Miziorko, H.: HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q. Am. J. Hum. Genet. 62: 295-300, 1998.
[0016246]6834.Mitchell, G. A.; Robert, M.-F.; Fontaine, G.; Wang, S.; Lambert, M.; Cole, D.; Lee, C.; Gibson, M.; Miziorko, H.: HMG CoA lyase (HL) deficiency: detection of a causal mutation in an affected French-Canadian sibship. (Abstract) Am. J. Hum. Genet. 51 (suppl.): A173, 1992.
[0016247]6835.Neufeld, E. J.; Mandel, H.; Raz, T.; Szargel, R.; Yandava, C. N.; Stagg, A.; Faure, S.; Barrett, T.; Buist, N.; Cohen, N.: Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping. Am. J. Hum. Genet. 61: 1335-1341, 1997.
[0016248]6836.Raz, T.; Barrett, T.; Szargel, R.; Mandel, H.; Neufeld, E. J.; Nosaka, K.; Viana, M. B.; Cohen, N.: Refined mapping of the gene for thiamine-responsive megaloblastic anemia syndrome and evidence for genetic homogeneity. Hum. Genet. 103: 455-461, 1998.
[0016249]6837.Fredrickson, D. S.; Levy, R. I.: Familial hyperlipoproteinemia.In: Stanbury, J. B.; Wyngaarden, J. B.; Fredrickson, D. S.: The Metabolic Basis of Inherited Disease. New York: McGraw-Hill (pub.) (3rd ed.): 1972. Pp. 545-614.
[0016250]6838.Ameis, D.; Kobayashi, J.; Davis, R. C.; Ben-Zeev, O.; Malloy, M. J.; Kane, J. P.; Lee, G.; Wong, H.; Havel, R. J.; Schotz, M. C.: Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene. J. Clin. Invest. 87: 1165-1170, 1991.
[0016251]6839.Auwerx, J. H.; Babirak, S. P.; Fujimoto, W. Y.; Iverius, P. H.; Brunzell, J. D.: Defective enzyme protein in lipoprotein lipase deficiency. Europ. J. Clin. Invest. 19: 433-437, 1989.
[0016252]6840.Beg, O. U.; Meng, M. S.; Skarlatos, S. I.; Previato, L.; Brunzell, J. D.; Brewer, H. B., Jr.; Fojo, S. S.: Lipoprotein lipase(Bethesda): a single amino acid substitution (ala176-to-thr) leads to abnormal heparin binding and loss of enzymic activity. Proc. Nat. Acad. Sci. 87: 3474-3478, 1990.
[0016253]6841.Benlian, P.; De Gennes, J. L.; Foubert, L.; Zhang, H.; Gagne, S. E.; Hayden, M.: Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene. New Eng. J. Med. 335: 848-854, 1996.
[0016254]6842.Berger, G. M. B.: An incomplete form of familial lipoprotein lipase deficiency presenting with type I hyperlipoproteinemia. Am. J. Clin. Path. 88: 369-373, 1987.
[0016255]6843.Berger, H.; Richter, A.; Gilardi, A.; Wagner, H.: Essential familial hyperlipaemia in a 2-year-old child. Ann. Paediat. 199: 445-466, 1962.
[0016256]6844.Bergeron, J.; Normand, T.; Bharucha, A.; Ven Murthy, M. R.; Julien, P.; Gagne, C.; Dionne, C.; De Braekeleer, M.; Brun, D.; Hayden, M. R.; Lupien, P. J.: Prevalence, geographical distribution and genealogical investigations of mutation 188 of lipoprotein lipase gene in the French Canadian population of Quebec. Clin. Genet. 41: 206-210, 1992.
[0016257]6845.Bertolini, S.; Simone, M. L.; Pes, G. M.; Ghisellini, M.; Rolleri, M.; Bellocchio, A.; Elicio, N.; Masturzo, P.; Calandra, S.: Pseudodominance of lipoprotein lipase (LPL) deficiency due to a nonsense mutation (tyr302-to-term) in exon 6 of LPL gene in an Italian family from Sardinia (LPLOlbia). Clin. Genet. 57: 140-147, 2000.
[0016258]6846.Boer, J. M. A.; Kuivenhoven, J. A.; Feskens, E. J. M.; Schouten, E. G.; Havekes, L. M.; Seidell, J. C.; Kastelein, J. J. P.; Kromhout, D.: Physical activity modulates the effect of a lipoprotein lipase mutation (D9N) on plasma lipids and lipoproteins. Clin. Genet. 56: 158-163, 1999.
[0016259]6847.Boggs, J. D.; Hsia, D. Y.-Y.; Mais, R. F.; Bigler, J. A.: The genetic mechanism of idiopathic hyperlipemia. New Eng. J. Med. 257: 1101-1108, 1957.
[0016260]6848.Breckenridge, W. C.; Little, A. C.; Steiner, G.; Chow, A.; Poapst, M.: Hypertriglyceridemia associated with deficiency of C-II apoprotein in plasma lipoproteins. New Eng. J. Med. 298: 1265-1273, 1978.
[0016261]6849.Brunzell, J. D.; Chait, A.; Nikkila, E. A.; Ehnholm, C.; Huttunen, J. K.; Steiner, G.: Heterogeneity of primary lipoprotein lipase deficiency. Metabolism 29: 624-629, 1980.
[0016262]6850.Busca, R.; Martinez, M.; Vilella, E.; Pognonec, P.; Deeb, S.; Auwerx, J.; Reina, M.; Vilaro, S.: The mutation gly142-to-glu in human lipoprotein lipase produces a missorted protein that is diverted to lysosomes. J. Biol. Chem. 271: 2139-2146, 1996.
[0016263]6851.Cantin, B.; Boudriau, S.; Bertrand, M.; Brun, L.-D.; Gagne, C.; Rogers, P. A.; Ven Murthy, M. R.; Lupien, P.-J.; Julien, P.: Hemolysis in primary lipoprotein lipase deficiency. Metabolism 44: 652-658, 1995.
[0016264]6852.Chimienti, G.; Capurso, A.; Resta, F.; Pepe, G.: A G-to-C change at the donor splice site of intron 1 causes lipoprotein lipase deficiency in a Southern-Italian family. Biochem. Biophys. Res. Commun. 187: 620-627, 1992.
[0016265]6853.Clark, A. G.; Weiss, K. M.; Nickerson, D. A.; Taylor, S. L.; Buchanan, A.; Stengard, J.; Salomaa, V.; Vartiainen, E.; Perola, M.; Boerwinkle, E.; Sing, C. F.: Haplotype structure and population genetic inferences from nucleotide-sequence variation in human lipoprotein lipase. Am. J. Hum. Genet. 63: 595-612, 1998.
[0016266]6854.Clee, S. M.; Loubser, O.; Collins, J.; Kastelein, J. J. P.; Hayden, M. R.: The LPL S447X cSNP is associated with decreased blood pressure and plasma triglycerides, and reduced risk of coronary artery disease. Clin. Genet. 60: 293-300, 2001.
[0016267]6855.De Braekeleer, M.; Dionne, C.; Gagne, C.; Julien, P.; Brun, D.; Ven Murthy, M. R.; Lupien, P.-J.: Founder effect in familial hyperchylomicronemia among French Canadians of Quebec. Hum. Hered. 41: 168-173, 1991.
[0016268]6856.De Bruin, T. W. A.; Mailly, F.; Van Barlingen, H. H. J. J.; Fisher, R.; Castro Cabezas, M.; Talmud, P.; Dallinga-Thie, G. M.; Humphries, S. E.: Lipoprotein lipase gene mutations D9N and N291S in four pedigrees with familial combined hyperlipidaemia. Europ. J. Clin. Invest. 26: 631-639, 1996.
[0016269]6857.Deeb, S. S.; Peng, R.: Structure of the human lipoprotein lipase gene. Biochemistry 28: 4131-4135, 1989.
[0016270]6858.Henderson, H. E.; Hassan, F.; Berger, G. M. B.; Hayden, M. R. : The lipoprotein lipase gly188-to-glu mutation in South Africans of Indian descent: evidence suggesting common origins and an increased frequency. J. Med. Genet. 29: 119-122, 1992.
[0016271]6859.Henderson, H. E.; Hassan, F.; Marais, D.; Hayden, M. R.: A new mutation destroying disulphide bridging in the C-terminal domain of lipoprotein lipase. Biochem. Biophys. Res. Commun. 227: 189-194, 1996.
[0016272]6860.Henderson, H. E.; Ma, Y.; Hassan, M. F.; Monsalve, M. V.; Marais, A. D.; Winkler, F.; Gubernator, K.; Peterson, J.; Brunzell, J. D.; Hayden, M. R.: Amino acid substitution (ile194-to-thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands: support for a multicentric origin. J. Clin. Invest. 87: 2005-2011, 1991.
[0016273]6861.Kousseff, B. G.; Matsuoka, L. Y.; Stenn, K. S.; Hobbins, J. C.; Mahoney, M. J.; Hashimoto, K.: Prenatal diagnosis of Sjogren-Larsson syndrome. J. Pediat. 101: 998-1001, 1982.
[0016274]6862.Aoki, K.; Siegel, F. L.: Hyperphenylalaninemia: disaggregation of brain polyribosomes in young rats. Science 168: 129-130, 1970.
[0016275]6863.Apold, J.; Eiken, H. G.; Odland, E.; Fredriksen, A.; Bakken, A.; Lorens, J. B.; Boman, H.: A termination mutation prevalent in Norwegian haplotype 7 phenylketonuria genes. Am. J. Hum. Genet. 47: 1002-1007, 1990.
[0016276]6864.Apold, J.; Eiken, H. G.; Svensson, E.; Kunert, E.; Kozak, L.; Cechak, P.; Guttler, F.; Giltay, J.; Lichter-Konecki, U.; Melle, D.; Jaruzelska, J. M.: The phenylketonuria G272X haplotype 7 mutation in European populations. Hum. Genet. 92: 107-109, 1993.
[0016277]6865.Arthur, L. J. H.; Hulme, J. D.: Intelligent, small for dates baby born to oligophrenic phenylketonuric mother after low phenylalanine diet during pregnancy. Pediatrics 46: 235-239, 1970.
[0016278]6866.Auerbach, V. H.; DiGeorge, A. M.; Carpenter, G. G.: Phenylalaninemia: a study of the diversity of disorders which produce elevation of blood concentrations of phenylalanine.In: Nyhan, W. L.: Amino Acid Metabolism and Genetic Variation. New York: McGraw-Hill (pub.) 1967. Pp. 11-68.
[0016279]6867.Avigad, S.; Cohen, B. E.; Bauer, S.; Schwartz, G.; Frydman, M.; Woo, S. L. C.; Niny, Y.; Shiloh, Y.: A single origin of phenylketonuria in Yemenite Jews. Nature 344: 168-170, 1990.
[0016280]6868.Avigad, S.; Cohen, B. E.; Woo, S. L. C.; Shiloh, Y.: A specific deletion within the phenylalanine hydroxylase gene is common to most Yemenite Jewish phenylketonuria patients. (Abstract) Am. J. Hum. Genet. 41: A205 only, 1987.
[0016281]6869.Baric, I.; Mardesic, D.; Sarnavoka, V.; Lichter-Konecki, U.; Konecki, D. S.; Trefz, F. K.: Geographical distribution of the P281L mutation at the phenylalanine hydroxylase locus: possible origin in southeastern Europe. J. Inherit. Metab. Dis. 17: 376-377, 1994.
[0016282]6870.Barranger, J. A.; Geiger, P. J.; Arezino, A.; Bessman, S. P.: Isozymes of phenylalanine hydroxylase. Science 175: 903-905, 1972.
[0016283]6871.Bartholome, K.; Olek, K.; Trefz, F.: Compound heterozygotes in hyperphenylalaninaemia. Hum. Genet. 65: 405-406, 1984.
[0016284]6872.Benit, P.; Rey, F.; Blandin-Savoja, F.; Munnich, A.; Abadie, V.; Rey, J.: The mutant genotype is the main determinant of the metabolic phenotype in phenylalanine hydroxylase deficiency. Molec. Genet. Metab. 68: 43-47, 1999.
[0016285]6873.Berg, K.; Saugstad, L. F.: A linkage study of phenylketonuria. Clin. Genet. 6: 147-152, 1974.
[0016286]6874.Bickel, H.: The first treatment of phenylketonuria. Europ. J. Pediat. 155 (suppl. 1): 2-3, 1996.
[0016287]6875.Bickel, H.; Gerard, J.; Hickmans, E. M.: The influence of phenylalanine intake on the chemistry and behavior of a phenylketonuric child. Acta Paediat. 43: 64-77, 1954.
[0016288]6876.Sekiguchi, K.; Klos, A. M.; Kurachi, K.; Yoshitake, S.; Hakomori, S.: Human liver fibronectin complementary DNAs: identification of two different messenger RNAs possibly encoding the alpha and beta subunits of plasma fibronectin. Biochemistry 25: 4936-4941, 1986.
[0016289]6877.Shirakami, A.; Shigekiyo, T.; Hirai, Y.; Takeichi, T.; Kawauchi, S.; Saito, S.; Miyoshi, K.: Plasma fibronectin deficiency in eight members of one family. Lancet I: 473-474, 1986.
[0016290]6878.Shows, T. B.: Personal Communication. Buffalo, N. Y. 1982.
[0016291]6879.Skow, L. C.; Adkison, L.; Womack, J. E.; Beamer, W. G.; Taylor, B. A.: Mapping of the mouse fibronectin gene (Fn-1) to chromosome 1: conservation of the Idh-1--Cryg--Fn-1 synteny group in mammals. Genomics 1: 283-286, 1987.
[0016292]6880.Smith, M.; Gold, L. I.; Pearlstein, E.; Krinsky, A.: Expression of mouse and human fibronectin in hybrid cells. (Abstract) Cytogenet. Cell Genet. 25: 205 only, 1979.
[0016293]6881.Smith, M.; Krinsky, A. M.; Arredondo-Vega, F. X.; Pearlstein, E.: Production of soluble fibronectin by RAG x human fibroblast hybrids. (Abstract) Cytogenet. Cell Genet. 32: 318 only, 1982.
[0016294]6882.Wu, B.-L.; Milunsky, A.; Wyandt, H.; Hoth, C.; Baldwin, C.; Skare, J.: In situ hybridization applied to Waardenburg syndrome. Cytogenet. Cell Genet. 63: 29-32, 1993.
[0016295]6883.Zardi, L.; Cianfriglia, M.; Balza, E.; Carnemolla, B.; Siri, A.; Croce, C. M.: Speciesspecific monoclonal antibodies in the assignment of the gene for human fibronectin to chromosome 2. EMBO J. 1: 929-933, 1982.
[0016296]6884.Zardi, L.; Siri, A.; Carnemolla, B.; Santi, L.; Gardner, W. D.; Hoch, S. O.: Fibronectin: a chromatin-associated protein? Cell 18: 649-657, 1979.
[0016297]6885.Adkison, L. R.; White, R. A.; Haney, D. M.; Lee, J. C.; Pusey, K. T.; Gardner, J.: The fibronectin receptor, alpha subunit (Itga5) maps to murine chromosome 15, distal to D15Mit16. Mammalian Genome 5: 456-457, 1994.
[0016298]6886.Argraves, W. S.; Pytela, R.; Suzuki, S.; Millan, J. L.; Pierschbacher, M. D.; Ruoslahti, E.: cDNA sequences from the alpha subunit of the fibronectin receptor predict a transmembrane domain and a short cytoplasmic peptide. J. Biol. Chem. 261: 12922-12924, 1986.
[0016299]6887.Argraves, W. S.; Suzuki, S.; Arai, H.; Thompson, K.; Pierschbacher, M. D.; Ruoslahti, E.: Amino acid sequence of the human fibronectin receptor. J. Cell Biol. 105: 1183-1190, 1987.
[0016300]6888.Fitzgerald, L. A.; Poncz, M.; Steiner, B.; Rall, S. C., Jr.; Bennett, J. S.; Phillips, D. R.: Comparison of cDNA-derived protein sequences of the human fibronectin and vitronectin receptor alphasubunits and platelet glycoprotein IIb. Biochemistry 26: 8158-8165, 1987.
[0016301]6889.Krissansen, G. W.; Yuan, Q.; Jenkins, D.; Jiang, W.-M.; Rooke, L.; Spurr, N. K.; Eccles, M.; Leung, E.; Watson, J. D.: Chromosomal locations of the genes coding for the integrin beta-6 and beta-7 subunits. Immunogenetics 35: 58-61, 1992.
[0016302]6890.Sosnoski, D.; Emanuel, B. S.; Hawkins, A. L.; van Tuinen, P.; Ledbetter, D. H.; Nussbaum, R. L.; Kaos, F.-T.; Schwartz, E.; Phillips, D.; Bennett, J. S.; Fitzgerald, L. A.; Poncz, M.: Chromosomal localization of the genes for the vitronectin and fibronectin receptors alpha-subunits and for platelet glycoproteins IIb and IIIa. J. Clin. Invest. 81: 1993-1998, 1988.
[0016303]6891.Spurr, N. K.; Rooke, L.: Confirmation of the assignment of the vitronectin (VNRA) and fibronectin (FNRA) receptor alpha-subunits. Ann. Hum. Genet. 55: 217-223, 1991.
[0016304]6892.Akula, S. M.; Pramod, N. P.; Wang, F.-Z.; Chandran, B.: Integrin alpha-3/beta-1 (CD 49c/29) is a cellular receptor for Kaposi's sarcoma-associated herpesvirus (KSHV/HHV-8) entry into the target cells. Cell 108: 407-419, 2002.
[0016305]6893.Arregui, C.; Pathre, P.; Lilien, J.; Balsamo, J.: The nonreceptor tyrosine kinase Fer mediates cross-talk between N-cadherin and beta-1-integrins. J. Cell Biol. 149: 1263-1273, 2000.
[0016306]6894.Giuffra, L. A.; Lichter, P.; Wu, J.; Kennedy, J. L.; Pakstis, A. J.; Rogers, J.; Kidd, J. R.; Harley, H.; Jenkins, T.; Ward, D. C.; Kidd, K. K.: Genetic and physical mapping and population studies of a fibronectin receptor beta-subunit-like sequence on human chromosome 19. Genomics 8: 340-346, 1990.
[0016307]6895.Giuffra, L. A.; Wu, J.; Lichter, P.; Kennedy, J. L.; Castiglione, C.; Pakstis, A. J.; Ward, D.; Kidd, K. K.: Mapping of a fibronectin receptor beta subunit-like sequence to chromosome 19. (Abstract) Am. J. Hum. Genet. 45 (suppl.): A141 only, 1989.
[0016308]6896.Goodfellow, P. J.; Nevanlinna, H. A.; Gorman, P.; Sheer, D.; Lam, G.; Goodfellow, P. N.: Assignment of the gene encoding the beta-subunit of the human fibronectin receptor (beta-FNR) to chromosome 10p11.2. Ann. Hum. Genet. 53: 15-22, 1989.
[0016309]6897.Graus-Porta, D.; Blaess, S.; Senften, M.; Littlewood-Evans, A.; Damsky, C.; Huang, Z.; Orban, P.; Klein, R.; Schittny, J. C.; Muller, U.: Beta-1-class integrins regulate the development of laminae and folia in the cerebral and cerebellar cortex. Neuron 31: 367-379, 2001.
[0016310]6898.Hynes, R. O.: Integrins: a family of cell surface receptors. Cell 48: 549-554, 1987.
[0016311]6899.Johansson, S.; Forsberg, E.; Lundgren, B.: Comparison of fibronectin receptors from rat hepatocytes and fibroblasts. J. Biol. Chem. 262: 7819-7824, 1987.
[0016312]6900.Lu, T. T.; Cyster, J. G.: Integrin-mediated long-term B cell retention in the splenic marginal zone. Science 297: 409-412, 2002.
[0016313]6901.Messer Peters, P.; Kamarck, M. E.; Hemler, M. E.; Strominger, J. L.; Ruddle, F. H.: Genetic and biochemical characterization of human lymphocyte cell surface antigens: the A-1A5 and A-3A4 determinants. J. Exp. Med. 159: 1441-1454, 1984.
[0016314]6902.Pytela, R.; Pierschbacher, M. D.; Ginsberg, M. H.; Plow, E. F.; Ruoslahti, E.: Platelet membrane glycoprotein IIb/IIIa: member of a family of arg-gly-asp-specific adhesion receptors. Science 231: 1159-1162, 1986.
[0016315]6903.Woods, V. L., Jr.; Pischel, K. D.; Avery, E. D.; Bluestein, H. G.: Antigenic polymorphism of human very late activation protein-2 (platelet glycoprotein Ia-IIa): platelet alloantigen Hc(a). J. Clin. Invest. 83: 978-985, 1989.
[0016316]6904.Wu, J. S.; Giuffra, L. A.; Goodfellow, P. J.; Myers, S.; Carson, N. L.; Anderson, L.; Hoyle, L. S.; Simpson, N. E.; Kidd, K. K.: The beta subunit locus of the human fibronectin receptor: DNA restriction fragment length polymorphism and linkage mapping studies. Hum. Genet. 83: 383-390, 1989.
[0016317]6905.Huang, F.; Shi, L. J.; Heng, H. H. Q.; Fei, J.; Guo, L.-H.: Assignment of the human GABA transporter gene (GABATHG) locus to chromosome 3p24-p25. Genomics 29: 302-304, 1995.
[0016318]6906.Lam, D. M.-K.; Fei, J.; Zhang, X.-Y.; Tam, A. C. W.; Zhu, L.-H.; Huang, F.; King, S. C.; Guo, L.-H.: Molecular cloning and structure of the human (GABATHG) GABA transporter gene. Molec. Brain Res. 19: 227-232, 1993.
[0016319]6907.Nelson, H.; Mandiyan, S.; Nelson, N.: Cloning of the human brain GABA transporter. FEBS Lett. 269: 181-184, 1990.
[0016320]6908.Brenner, B.; Sanchez-Vega, B.; Wu, S.-M.; Lanir, N.; Stafford, D. W.; Solera, J.: A missense mutation in a gamma-glutamyl carboxylase gene causes combined deficiency of all vitamin Kdependent blood coagulation factors. Blood 92: 4554-4559, 1998.
[0016321]6909.Brenner, B.; Tavori, S.; Zivelin, A.; Keller, C. B.; Suttie, J. W.; Tatarsky, I.; Seligsohn, U.: Hereditary deficiency of all vitamin K-dependent procoagulants and anticoagulants. Brit. J. Haemat. 75: 537-542, 1990.
[0016322]6910.Kuo, W.-L.; Stafford, D. W.; Cruces, J.; Gray, J.; Solera, J.: Chromosomal localization of the gamma-glutamyl carboxylase gene at 2p12. Genomics 25: 746-748, 1995.
[0016323]6911.Mutucumarana, V. P.; Stafford, D. W.; Stanley, T. B.; Jin, D.-Y.; Solera, J.; Brenner, B.; Azerad, R.; Wu, S.-M.: Expression and characterization of the naturally occurring mutation L394R in human gamma-glutamyl carboxylase. J. Biol. Chem. 275: 32572-32577, 2000.
[0016324]6912.Soute, B. A. M.; Ulrich, M. M. W.; Watson, A. D. J.; Maddison, J. E.; Ebberink, R. H. M.; Vermmer, C.: Congenital deficiency of all vitamin K-dependent blood coagulation factors due to a defective vitamin K-dependent carboxylase in Devon Rex cats. Thromb. Haemost. 68: 521-525, 1992.
[0016325]6913.Spronk, H. M. H.; Farah, R. A.; Buchanan, G. R.; Vermeer, C.; Soute, B. A. M.: Novel mutation in the gamma-glutamyl carboxylase gene resulting in congenital combined deficiency of all vitamin K-dependent blood coagulation factors. Blood 96: 3650-3652, 2000.
[0016326]6914.Wu, S.-M.; Cheung, W.-F.; Frazier, D.; Stafford, D. W.: Cloning and expression of the cDNA for human gamma-glutamyl carboxylase. Science 254: 1634-1636, 1991.
[0016327]6915.Wu, S. M.; Stafford, D. W.; Frazier, L. D.; Fu, Y. Y.; High, K. A.; Chu, K.; Sanchez-Vega, B.; Solera, J.: Genomic sequence and transcription start site for the human gamma-glutamyl carboxylase. Blood 89: 4058-4062, 1997.
[0016328]6916.Bibas, M.; Zampa, G.; Procopio, A.; Guaitolini, R.: High serum gammaglutamyltransferase concentrations in a family. (Letter) New Eng. J. Med. 330: 1832-1833, 1994.
[0016329]6917.Courtay, C.; Heisterkamp, N.; Siest, G.; Groffen, J.: Expression of multiple gammaglutamyltransferase genes in man. Biochem. J. 297: 503-508, 1994.
[0016330]6918.Figlewicz, D. A.; Delattre, O.; Guellaen, G.; Krizus, A.; Thomas, G.; Zucman, J.; Rouleau, G. A.: Mapping of human gamma-glutamyl transpeptidase genes on chromosome 22 and other human autosomes. Genomics 17: 299-305, 1993.
[0016331]6919.Grausz, J. D.; Bulle, F.; Hillion, J.; Bernheim, A.; Miglierina, R.; Guellaen, G.; Berger, R.: Indication that a gamma glutamyl transferase (GGT) gene is located centromeric to Ig-lambda (IGL) on chromosome 22q11. (Abstract) Cytogenet. Cell Genet. 51: 1007 only, 1989.
[0016332]6920.Pawlak, A.; Wu, S.-J.; Bulle, F.; Suzuki, A.; Chikhi, N.; Ferry, N.; Baik, J.-H.; Siegrist, S.; Guellaen, G.: Different gamma-glutamyl transpeptidase mRNAs are expressed in human liver and kidney. Biochem. Biophys. Res. Commun. 164: 912-918, 1989.
[0016333]6921.Rajpert-De Meyts, E.; Heisterkamp, N.; Groffen, J.: Cloning and nucleotide sequence of human gamma-glutamyl transpeptidase. Proc. Nat. Acad. Sci. 85: 8840-8844, 1988.
[0016334]6922.Visvikis, A.: Personal Communication. Nancy, France 9/26/1997.
[0016335]6923.Visvikis, A.; Thioudellet, C.; Oster, T.; Fournel-Gigleux, S.; Wellman, M.; Siest, G.: High-level expression of enzymatically active mature human gamma-glutamyltransferase in transgenic V79 Chinese hamster cells. Proc. Nat. Acad. Sci. 88: 7361-7365, 1991.
[0016336]6924.Dean, M.; Lucas-Derse, S.; Bolos, A.; O'Brien, S. J.; Kirkness, E. F.; Fraser, C. M.; Goldman, D.: Genetic mapping of the beta-1 GABA receptor gene to human chromosome 4, using a tetranucleotide repeat polymorphism. Am. J. Hum. Genet. 49: 621-626, 1991.
[0016337]6925.Kirkness, E. F.; Kusiak, J. W.; Fleming, J. T.; Menninger, J.; Gocayne, J. D.; Ward, D. C.; Venter, J. C.: Isolation, characterization, and localization of human genomic DNA encoding the beta-1 subunit of the GABA-A receptor (GABRB1). Genomics 10: 985-995, 1991.
[0016338]6926.Lopez de Castro, J. A.; Strominger, J. L.; Strong, D. M.; Orr, H. T.: Structure of crossreactive human histocompatibility antigens HLA-A28 and HLA-A2: possible implications for the generation of HLA polymorphism. Proc. Nat. Acad. Sci. 79: 3813-3817, 1982.
[0016339]6927.Malissen, M.; Malissen, B.; Jordan, B. R.: Exon/intron organization and complete nucleotide sequence of an HLA gene. Proc. Nat. Acad. Sci. 79: 893-897, 1982.
[0016340]6928.Mann, D. L.; Rogentine, G. N., Jr.; Fahey, J. L.; Nathenson, S. G.: Molecular heterogeneity of human lymphoid (HL-A) alloantigens. Science 163: 1460-1462, 1969.
[0016341]6929.MacDonald, K. S.; Fowke, K. R.; Kimani, J.; Dunand, V. A.; Nagelkerke, N. J. D.; Ball, T. B.; Oyugi, J.; Njagi, E.; Gaur, L. K.; Brunham, R. C.; Wade, J.; Luscher, M. A.; Krausa, P.; Rowland-Jones, S.; Ngugi, E.; Bwayo, J. J.; Plummer, F. A.: Influence of HLA supertypes on susceptibility and resistance to human immunodeficiency virus type 1 infection. J. Infect. Dis. 181: 1581-1589, 2000.
[0016342]6930.Mayr, W. R.; Mayr, D.: Analysis of the linkage between the HL-A loci and the genes of other markers. Humangenetik 24: 129-133, 1974.
[0016343]6931.Messer, G.; Zemmour, J.; Orr, H. T.; Parham, P.; Weiss, E. H.; Girdlestone, J.: HLA-J, a second inactivated class I HLA gene related to HLA-G and HLA-A. J. Immun. 148: 4043-4053, 1992.
[0016344]6932.Morton, C. C.; Kirsch, I. R.; Nance, W. E.; Evans, G. A.; Korman, A. J.; Strominger, J. L.: Orientation of loci within the human major histocompatibility complex by chromosomal in situ hybridization. Proc. Nat. Acad. Sci. 81: 2816-2820, 1984.
[0016345]6933.Morton, N. E.; Rao, D. C.; Lindsten, J.; Hulten, M.; Yee, S.: A chiasma map of man. Hum. Hered. 27: 38-51, 1977.
[0016346]6934.Mulley, J. C.; Hay, J.; Sheffield, L. J.; Sutherland, G. R.: Regional localization for HLA by recombination with a fragile site at 6p23. Am. J. Hum. Genet. 35: 1284-1288, 1983.
[0016347]6935.Newell, W. R.; Trowsdale, J.; Beck, S.: MHCDB--database of the human MHC. Immunogenetics 40: 109-115, 1994.
[0016348]6936.Orr, H. T.; Bach, F. H.; Ploegh, H. L.; Strominger, J. L.; Kavathas, P.; DeMars, R.: Use of HLA loss mutants to analyse the structure of the human major histocompatibility complex. Nature 296: 454-456, 1982.
[0016349]6937.Paabo, S.: Molecular cloning of ancient Egyptian mummy DNA. Nature 314: 644-645, 1985.
[0016350]6938.Patel, R.; Mickey, M. R.; Terasaki, P. I.: Serotyping for homotransplantation of kidneys from unrelated donors. New Eng. J. Med. 279: 501-506, 1968.
[0016351]6939.Payne, R.; Tripp, M.; Weigle, J.; Bodmer, W. F.; Bodmer, J. G. : A new leukocyte isoantigen system in man. Cold Spring Harbor Symp. Quant. Biol. 29: 285-295, 1964.
[0016352]6940.Polacek, L. A.; Phillips, R. B.; Hackbarth, S. A.; Duquesnoy, R. J.: A linkage study of the HLA region using C-band heteromorphisms. Clin. Genet. 23: 177-185, 1983.
[0016353]6941.Ragoussis, J.; Bloemer, K.; Pohla, H.; Messer, G.; Weiss, E. H.; Ziegler, A.: A physical map including a new class I gene (cda12) of the human major histocompatibility complex (A2/B13 haplotype) derived from a monosomy 6 mutant cell line. Genomics 4: 301-308, 1989.
[0016354]6942.Ragoussis, J.; van der Bliek, A.; Trowsdale, J.; Ziegler, A.: Mapping of HLA genes using pulsed field gradient electrophoreses. FEBS Lett. 204: 1-4, 1986.
[0016355]6943.Salter, R. D.; Norment, A. M.; Chen, B. P.; Clayberger, C.; Krensky, A. M.; Littman, D. R.; Parham, P.: Polymorphism in the alpha(3) domain of HLA-A molecules affects binding to CD8. Nature 338: 345-347, 1989.
[0016356]6944.Schunter, F.; Wernet, P.; Kompf, J.; Bissbort, S.; Gohler, F. : Mapping of the linkage group GLO-Bf-HLA-B, C, A-PGM. II. Segregation analysis. Hum. Genet. 44: 321-331, 1978.
[0016357]6945.Shivdasani, R. A.; Haluska, F. G.; Dock, N. L.; Dover, J. S.; Kineke, E. J.; Anderson, K. C.: Graft-versus-host disease associated with transfusion of blood from unrelated HLA-homozygous donors. New Eng. J. Med. 328: 766-770, 1993.
[0016358]6946.Shukla, H.; Gillespie, G. A.; Srivastava, R.; Collins, F.; Chorney, M. J.: A class I jumping clone places the HLA-G gene approximately 100 kilobases from HLA-H within the HLA-A subregion of the human MHC. Genomics 10: 905-914, 1991.
[0016359]6947.Snell, G. D.: Studies in histocompatibility. Science 213: 172-178, 1981.
[0016360]6948.Solheim, B. G.; Bratlie, A.; Sandberg, L.; Staub-Nielsen, L.; Thorsby, E.: Further evidence of a third HL-A locus. Tissue Antigens 3: 439-453, 1973.
[0016361]6949.Strachan, T.: Molecular genetics and polymorphism of class I HLA antigens. Brit. Med. Bull. 43: 1-14, 1987.
[0016362]6950.Szpak, Y.; Vieville, J.-C.; Tabary, T.; Naud, M.-C.; Chopin, M.; Edelson, C.; Cohen, J. H. M.; Dausset, J.; de Kozak, Y.; Pla, M.: Spontaneous retinopathy in HLA-A29 transgenic mice. Proc. Nat. Acad. Sci. 98: 2572-2576, 2001.
[0016363]6951.Teshima, T.; Ordemann, R.; Reddy, P.; Gagin, S.; Liu, C.; Cooke, K. R.; Ferrara, J. L. M.: Acute graft-versus-host disease does not require alloantigen expression on host epithelium. Nature Med. 8: 575-581, 2002.
[0016364]6952.Thorsby, E.; Sandberg, L.; Lindholm, A.; Kissmeyer-Nielsen, F. : The HL-A system: evidence of a third sub-locus. Scand. J. Haemat. 7: 195-200, 1970.
[0016365]6953.Tragardh, L.; Rask, L.; Wiman, K.; Fohlman, J.; Peterson, P. A. : Amino acid sequence of an immunoglobulin HLA antigen heavy chain domain. Proc. Nat. Acad. Sci. 76: 5839-5842, 1979.
[0016366]6954.Trowsdale, J.: Personal Communication. London, England 1/12/1983.
[0016367]6955.Trowsdale, J.; Ragoussis, J.; Campbell, R. D.: Map of the human MHC. Immun. Today 12: 443-446, 1991.
[0016368]6956.Van Leeuwen, A.; Eernisse, J. G.; Van Rood, J. J.: A new leucocyte group with two alleles: leucocyte group five. Vox Sang. 9: 431-446, 1964.
[0016369]6957.Van Rood, J. J.: Leucocyte grouping and organ transplantation. Brit. J. Haemat. 16: 211-220, 1969. 100. Van Rood, J. J.: Tissue typing and organ transplantation. Lancet I: 1142-1146, 1969. 101. Van Rood, J. J.; Amos, D. B.: In memoriam: Ruggero Ceppellini, 1917-1988. Hum. Immun. 23: 1-3, 1988. 102. Van Rood, J. J.; Van Leeuwen, A.: Leukocyte grouping: a method and its application. J. Clin. Invest. 42: 1382-1390, 1963. 103. Van Someren, H.; Westerveld, A.; Hagemeijer, A.; Mees, J. R.; Meera Khan, P.; Zaalberg, O. B.: Human antigen and enzyme markers in man-Chinese hamster somatic cell hybrids: evidence for synteny between the HL-A, PGM-3, ME-1, and IPO-B loci. Proc. Nat. Acad. Sci. 71: 962-965, 1974. 104. Walford, R. L.; Finkelstein, S.; Hanna, C.; Collins, Z.: Third sublocus in the HL-A human transplantation system. Nature 224: 74-75, 1969. 105. Weitkamp, L. R.; Van Rood, J. J.; Thorsby, E.; Bias, W. B.; Fotino, M.; Lawler, S. D.; Dausset, J.; Mayr, W. R.; Bodmer, J.; Ward, F. S.; Seignalet, J.; Payne, R.; Kissmeyer-Nielsen, F.; Gatti, R. A.; Sachs, J. A.; Lamm, L. U.: The relation of parental sex and age to recombination in the HL-A system. Hum. Hered. 23: 197-205, 1973. 106. Wolski, K. P.; Schmid, F. R.; Mittal, K. K.: Genetic linkage between the HL-A system and a deficit of the second component (C2) of complement. Science 188: 1020-1022, 1975. 107. Ziegler, A.; Ragoussis, J.; Fonatsch, C.; Weiss, E.: A physical map of the human major histocompatibility (HLA) complex derived from a monosomy 6 mutant cell line. (Abstract) Cytogenet. Cell Genet. 51: 1116 only, 1989.
[0016370]6958.Wildhage, I.; Trusheim, H.; Goke, B.; Lankat-Buttgereit, B.: Gene expression of the human glucagon-like peptide-1 receptor is regulated by Sp1 and Sp3. Endocrinology 140: 624-631, 1999.
[0016371]6959.Rucknagel, D. L.; Shreffler, D. C.; Halstead, S. B.: The Bangkok variant of the serum group-specific component (Gc) and the frequency of the Gc alleles in Thailand. Am. J. Hum. Genet. 20: 478-485, 1968.
[0016372]6960.Ashraf, J.; Thompson, E. B.: Identification of the activation-labile gene: a single point mutation in the human glucocorticoid receptor presents as two distinct receptor phenotypes. Molec. Endocr. 7: 631-642, 1993.
[0016373]6961.Bamberger, C. M.; Bamberger, A.-M.; de Castro, M.; Chrousos, G. P.: Glucocorticoid receptor beta, a potential endogenous inhibitor of glucocorticoid action in humans. J. Clin. Invest. 95: 2435-2441, 1995.
[0016374]6962.Breslin, M. B.; Geng, C.-D.; Vedeckis, W. V.: Multiple promoters exist in the human GR gene, one of which is activated by glucocorticoids. Molec. Endocr. 15: 1381-1395, 2001.
[0016375]6963.Bronnegard, M.; Werner, S.; Gustafsson, J.-A.: Primary cortisol resistance associated with a thermolabile glucocorticoid receptor in a patient with fatigue as the only symptom. J. Clin. Invest. 78: 1270-1278, 1986.
[0016376]6964.Bledsoe, R. K.; Montana, V. G.; Stanley, T. B.; Delves, C. J.; Apolito, C. J.; McKee, D. D.; Consler, T. G.; Parks, D. J.; Stewart, E. L.; Willson, T. M.; Lambert, M. H.; Moore, J. T.; Pearce, K. H.; Xu, H. E.: Crystal structure of the glucocorticoid receptor ligand binding domain reveals a novel mode of receptor dimerization and coactivator recognition. Cell 110: 93-105, 2002.
[0016377]6965.Carlstedt-Duke, J.; Stromstedt, P.-E.; Wrange, O.; Bergman, T.; Gustafsson, J.-A.; Jornvall, H.: Domain structure of the glucocorticoid receptor protein. Proc. Nat. Acad. Sci. 84: 4437-4440, 1987.
[0016378]6966.Chrousos, G. P.; Renquist, D.; Brandon, D.; Eil, C.; Pugeat, M.; Vigersky, R.; Cutler, G. B., Jr.; Loriaux, D. L.; Lipsett, M. B.: Glucocorticoid hormone resistance during primate evolution: receptor-mediated mechanisms. Proc. Nat. Acad. Sci. 79: 2036-2040, 1982.
[0016379]6967.Chrousos, G. P.; Vingerhoeds, A.; Brandon, D.; Eil, C.; Pugeat, M.; DeVroede, M.; Loriaux, D. L.; Lipsett, M. B.: Primary cortisol resistance in man: a glucocorticoid receptor-mediated disease. J. Clin. Invest. 69: 1261-1269, 1982.
[0016380]6968.Chrousos, G. P.; Vingerhoeds, A. C. M.; Loriaux, D. L.; Lipsett, M. B.: Primary cortisol resistance: a family study. J. Clin. Endocr. Metab. 56: 1243-1245, 1983.
[0016381]6969.Diamond, M. I.; Robinson, M. R.; Yamamoto, K. R.: Regulation of expanded polyglutamine protein aggregation and nuclear localization by the glucocorticoid receptor. Proc. Nat. Acad. Sci. 97: 657-661, 2000.
[0016382]6970.Dobson, M. G.; Redfern, C. P. F.; Unwin, N.; Weaver, J. U.: The N363S polymorphism of the glucocorticoid receptor: potential contribution to central obesity in men and lack of association with other risk factors for coronary heart disease and diabetes mellitus. J. Clin. Endocr. Metab. 86: 2270-2274, 2001.
[0016383]6971.Encio, I. J.; Detera-Wadleigh, S. D.: The genomic structure of the human glucocorticoid receptor. J. Biol. Chem. 266: 7182-7188, 1991.
[0016384]6972.Francke, U.; Foellmer, B. E.: The glucocorticoid receptor gene is in 5q31-q32. Genomics 4: 610-612, 1989.
[0016385]6973.Gehring, U.; Segnitz, B.; Foellmer, B.; Francke, U.: Chromosome assignment of the human gene for the glucocorticoid receptor (GRL). (Abstract) Cytogenet. Cell Genet. 37: 476, 1984.
[0016386]6974.Gehring, U.; Segnitz, B.; Foellmer, B.; Francke, U.: Assignment of the human gene for the glucocorticoid receptor to chromosome 5. Proc. Nat. Acad. Sci. 82: 3751-3755, 1985.
[0016387]6975.Giuffra, L. A.; Kennedy, J. L.; Castiglione, C. M.; Evans, R. M.; Wasmuth, J. J.; Kidd, K. K.: Glucocorticoid receptor maps to the distal long arm of chromosome 5. Cytogenet. Cell Genet. 49: 313-314, 1988.
[0016388]6976.Hollenberg, S. M.; Weinberger, C.; Ong, E. S.; Cerelli, G.; Oro, A.; Lebo, R.; Thompson, E. B.; Rosenfeld, M. G.; Evans, R. M.: Primary structure and expression of a functional human glucocorticoid receptor cDNA. Nature 318: 635-641, 1985.
[0016389]6977.Huebner, K.; Nagarajan, L.; Besa, E.; Angert, E.; Lange, B. J.; Cannizzaro, L. A.; van den Berghe, H.; Santoli, D.; Finan, J.; Croce, C. M.; Nowell, P. C.: Order of genes on human chromosome 5q with respect to 5q interstitial deletions. Am. J. Hum. Genet. 46: 26-36, 1990.
[0016390]6978.Huizenga, N. A. T. M.; de Lange, P.; Koper, J. W.; Clayton, R. N.; Farrell, W. E.; van der Lely, A. J.; Brinkmann, A. O.; de Jong, F. H.; Lamberts, S. W. J.: Human adrenocorticotropinsecreting pituitary adenomas show frequent loss of heterozygosity at the glucocorticoid receptor gene locus. J. Clin. Endocr. Metab. 83: 917-921, 1998.
[0016391]6979.Huizenga, N. A. T. M.; De Lange, P.; Koper, J. W.; De Herder, W. W.; Abs, R.; Kasteren, J. H. L. M. V.; De Jong, F. H.; Lamberts, S. W. J.: Five patients with biochemical and/or clinical generalized glucocorticoid resistance without alterations in the glucocorticoid receptor gene. J. Clin. Endocr. Metab. 85: 2076-2081, 2000.
[0016392]6980.Huizenga, N. A. T. M.; Koper, J. W.; de Lange, P.; Pols, H. A. P.; Stolk, R. P.; Burger, H.; Grobbee, D. E.; Brinkmann, A. O.; de Jong, F. H.; Lamberts, S. W. J.: A polymorphism in the glucocorticoid receptor gene may be associated with an increased sensitivity to glucocorticoids in vivo. J. Clin. Endocr. Metab. 83: 144-151, 1998.
[0016393]6981.Hurley, D. M.; Accili, D.; Stratakis, C. A.; Karl, M.; Vamvakopoulos, N.; Rorer, E.; Constantine, K.; Taylor, S. I.; Chrousos, G. P.: Point mutation causing a single amino acid substitution in the hormone binding domain of the glucocorticoid receptor in familial glucocorticoid resistance. J. Clin. Invest. 87: 680-686, 1991.
[0016394]6982.Iida, S.; Gomi, M.; Moriwaki, K.; Itoh, Y.; Hirobe, K.; Matsuzawa, Y.; Katagiri, S.; Yonezawa, T.; Tarui, S.: Primary cortisol resistance accompanied by a reduction in glucocorticoid receptors in two members of the same family. J. Clin. Endocr. Metab. 60: 967-971, 1985.
[0016395]6983.Pierce, E. A.; Dame, M. C.; Bouillon, R.; Van Baelen, H.; DeLuca, H. F.: Monoclonal antibodies to human vitamin D-binding protein. Proc. Nat. Acad. Sci. 82: 8429-8433, 1985.
[0016396]6984.Schoentgen, F.; Metz-Boutigue, M.-H.; Jolles, J.; Constans, J.; Jolles, P.: Homology between the human vitamin D-binding protein (group specific component), alpha-fetoprotein and serum albumin. FEBS Lett. 185: 47-50, 1985.
[0016397]6985.Seppala, M.; Ruoslahti, E.; Makela, O.: Inheritance and genetic linkage of Gc and TF groups. Acta Genet. Statist. Med. 17: 47-54, 1967.
[0016398]6986.Shibata, T.; Abe, T.: Linkage between the loci for serum albumin and vitamin D binding protein (GC) in the Japanese quail. Animal Genet. 27: 195-197, 1996.
[0016399]6987.Svasti, J.; Kurosky, A.; Bennett, A.; Bowman, B. H.: Molecular basis for the three major forms of human serum vitamin D binding protein (group-specific component). Biochemistry 18: 1611-1617, 1979.
[0016400]6988.Szathmary, E. J. E.: The effect of Gc genotype on fasting insulin level in Dogrib Indians. Hum. Genet. 75: 368-372, 1987.
[0016401]6989.Thymann, M.; Hjalmarsson, K.; Svensson, M.: Five new Gc variants detected by isoelectric focusing in agarose gel. Hum. Genet. 60: 340-343, 1982.
[0016402]6990.Vavrusa, B.; Cleve, H.; Constans, J.: A deficiency mutant of the Gc system. Hum. Genet. 65: 102-107, 1983.
[0016403]6991.Weitkamp, L. R.: Comparative gene mapping: linkage between the albumin and Gc loci in the horse. (Abstract) Am. J. Hum. Genet. 30: 128A only, 1978.
[0016404]6992.Weitkamp, L. R.: Concerning the linkage relationships of the Gc and MNSs loci. Hum. Genet. 43: 215-220, 1978.
[0016405]6993.Weitkamp, L. R.; Rucknagel, D. L.; Gershowitz, H.: Genetic linkage between structural loci for albumin and group specific component (Gc). Am. J. Hum. Genet. 18: 559-571, 1966.
[0016406]6994.Witke, F. W.; Gibbs, P. E. M.; Zielinski, R.; Yang, F.; Bowman, B. H.; Dugaiczyk, A.: Complete structure of the human Gc gene: differences and similarities between members of the albumin gene family. Genomics 16: 751-754, 1993.
[0016407]6995.Yamamoto, N.; Homma, S.: Vitamin D-3 binding protein (group-specific component) is a precursor for the macrophage-activating signal factor from lysophosphatidylcholine-treated lymphocytes. Proc. Nat. Acad. Sci. 88: 8539-8543, 1991.
[0016408]6996.Yamamoto, Y.; Nishimoto, H.; Ikemoto, S.: Interstitial deletion of the proximal long arm of chromosome 4 associated with father-child incompatibility within the Gc-system: probable reduced gene dosage effect and partial piebald trait. Am. J. Med. Genet. 32: 520-523, 1989.
[0016409]6997.Yang, F.; Bergeron, J. M.; Linehan, L. A.; Lalley, P. A.; Sakaguchi, A. Y.; Bowman, B. H.: Mapping and conservation of the group-specific component gene in mouse. Genomics 7: 509-516, 1990.
[0016410]6998.Yang, F.; Brune, J. L.; Naylor, S. L.; Cupples, R. L.; Naberhaus, K. H.; Bowman, B. H.: Human group-specific component (Gc) is a member of the albumin family. Proc. Nat. Acad. Sci. 82: 7994-7998, 1985.
[0016411]6999.Yang, F.; Luna, V. J.; McAnelly, R. D.; Naberhaus, K. H.; Cupples, R. L.; Bowman, B. H.: Evolutionary and structural relationships among the group-specific component, albumin and alphafetoprotein. Nucleic Acids Res. 13: 8007-8017, 1985.
[0016412]7000.Yasuda, T.; Ikehara, Y.; Takagi, S.; Mizuta, K.; Kishi, K.: A hereditary double doublebanded variation in the vitamin D-binding protein (GC) system analyzed by immunoblotting: duplication of the 1F and 1A2 genes? Hum. Genet. 82: 89-91, 1989.
[0016413]7001.Boguszewski, C. L.; Svensson, P.-A.; Jansson, T.; Clark, R.; Carlsson, L. M. S.; Carlsson, B.: Cloning of two novel growth hormone transcripts expressed in human placenta. J. Clin. Endocr. Metab. 83: 2878-2885, 1998.
[0016414]7002.Chen, E. Y.; Liao, Y.-C.; Smith, D. H.; Barrera-Saldana, H. A.; Gelinas, R. E.; Seeburg, P. H.: The human growth hormone locus: nucleotide sequence, biology, and evolution. Genomics 4: 479-497, 1989.
[0016415]7003.Frankenne, F.; Rentier-Delrue, F.; Scippo, M.-L.; Martial, J.; Hennen, G.: Expression of the growth hormone variant gene in human placenta. J. Clin. Endocr. Metab. 64: 635-637, 1987.
[0016416]7004.Lewis, U. J.; Dunn, J. T.; Bonewald, L. F.; Seavey, B. K.; VanderLaan, W. P.: A naturally occurring structural variant of human growth hormone. J. Biol. Chem. 253: 2679-2687, 1978.
[0016417]7005.Liebhaber, S. A.; Urbanek, M.; Ray, J.; Tuan, R. S.; Cooke, N. E.: Characterization and histologic localization of human growth hormone-variant gene expression in the placenta. J. Clin. Invest. 83: 1985-1991, 1989.
[0016418]7006.MacLeod, J. N.; Liebhaber, S. A.; MacGillivray, M. H.; Cooke, N. E.: Identification of a splice-site mutation in the human growth hormone-variant gene. Am. J. Hum. Genet. 48: 1168-1174, 1991.
[0016419]7007.MacLeod, J. N.; Worsley, I.; Ray, J.; Friesen, H. G.; Liebhaber, S. A.; Cooke, N. E.: Human growth hormone variant is a biologically active somatogen and lactogen. Endocrinology 128: 1298-1302, 1991.
[0016420]7008.Owerbach, D.; Rutter, W. J.; Martial, J. A.; Baxter, J. D.; Shows, T. B.: Genes for growth hormone, chorionic somatomammotropin and growth hormone-like genes on chromosome 17 in humans. Science 209: 289-292, 1980.
[0016421]7009.Harada, H.; Fujita, T.; Miyamoto, M.; Kimura, Y.; Maruyama, M.; Furia, A.; Miyata, T.; Taniguchi, T.: Structurally similar but functionally distinct factors, IRF-1 and IRF-2, bind to the same regulatory elements of IFN and IFN-inducible genes. Cell 58: 729-739, 1989.
[0016422]7010.Digilio, M. C.; Conti, E.; Sarkozy, A.; Mingarelli, R.; Dottorini, T.; Marino, B.; Pizzuti, A.; Dallapiccola, B.: Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. Am. J. Hum. Genet. 71: 389-394, 2002.
[0016423]7011.Guo, N.; Mogues, T.; Weremowicz, S.; Morton, C. C.; Sastry, K. N.: The human ortholog of rhesus mannose-binding protein-A gene is an expressed pseudogene that localizes to chromosome 10. Mammalian Genome 9: 246-249, 1998.
[0016424]7012.Moreau, J.-F.; Donaldson, D. D.; Bennett, F.; Witek-Giannotti, J.; Clark, S. C.; Wong, G. C.: Leukaemia inhibitory factor is identical to the myeloid growth factor human interleukin for DA cells. Nature 336: 690-692, 1988.
[0016425]7013.Nakashima, K.; Yanagisawa, M.; Arakawa, H.; Kimura, N.; Hisatsune, T.; Kawabata, M.; Miyazono, K.; Taga, T.: Synergistic signaling in fetal brain by STAT3-Smad1 complex bridged by p300. Science 284: 479-482, 1999.
[0016426]7014.Patterson, P. H.: Leukemia inhibitory factor, a cytokine at the interface between neurobiology and immunology. Proc. Nat. Acad. Sci. 91: 7833-7835, 1994.
[0016427]7015.Sutherland, G. R.; Baker, E.; Hyland, V. J.; Callen, D. F.; Stahl, J.; Gough, N. M.: The gene for human leukemia inhibitory factor (LIF) maps to 22q12. Leukemia 3: 9-13, 1989.
[0016428]7016.Williams, R. L.; Hilton, D. J.; Pease, S.; Willson, T. A.; Stewart, C. L.; Gearing, D. P.; Wagner, E. F.; Metcalf, D.; Nicola, N. A.; Gough, N. M.: Myeloid leukaemia inhibitory factor maintains the developmental potential of embryonic stem cells. Nature 336: 684-687, 1988.
[0016429]7017.Bae, J.; Leo, C. P.; Hsu, S. Y.; Hsueh, A. J. W.: MCL-1S, a splicing variant of the antiapoptotic BCL-2 family member MCL-1, encodes a proapoptotic protein possessing only the BH3 domain. J. Biol. Chem. 275: 25255-25261, 2000.
[0016430]7018.Craig, R. W.; Jabs, E. W.; Zhou, P.; Kozopas, K. M.; Hawkins, A. L.; Rochelle, J. M.; Seldin, M. F.; Griffin, C. A.: Human and mouse chromosomal mapping of the myeloid cell leukemia-1 gene: MCL1 maps to human chromosome 1q21, a region that is frequently altered in preneoplastic and neoplastic disease. Genomics 23: 457-463, 1994.
[0016431]7019.Kozopas, K. M.; Yang, T.; Buchan, H. L.; Zhou, P.; Craig, R. W. : MCL1, a gene expressed in programmed myeloid cell differentiation, has sequence similarity to BCL2. Proc. Nat. Acad. Sci. 90: 3516-3520, 1993.
[0016432]7020.Rinkenberger, J. L.; Horning, S.; Klocke, B.; Roth, K.; Korsmeyer, S. J.: Mcl-1 deficiency results in peri-implantation embryonic lethality. Genes Dev. 14: 23-27, 2000.
[0016433]7021.Hizawa, N.; Yamaguchi, E.; Furuya, K.; Ohnuma, N.; Kodama, N.; Kojima, J.; Ohe, M.; Kawakami, Y.: Association between high serum total IgE levels and D11S97 on chromosome 11q13 in Japanese subjects. J. Med. Genet. 32: 363-369, 1995.
[0016434]7022.Sandford, A. J.; Shirakawa, T.; Moffatt, M. F.; Daniels, S. E.; Ra, C.; Faux, J. A.; Young, R. P.; Nakamura, Y.; Lathrop, G. M.; Cookson, W. O. C. M.; Hopkin, J. M.: Localisation of atopy and beta subunit of high-affinity IgE receptor (FCER1) on chromosome 11q. Lancet 341: 332-334, 1993.
[0016435]7023.Harada, H.; Kondo, T.; Ogawa, S.; Tamura, T.; Kitagawa, M.; Tanaka, N.; Lamphier, M. S.; Hirai, H.; Taniguchi, T.: Accelerated exon skipping of IRF-1 mRNA in human myelodysplasia/leukemia: a possible mechanism of tumor suppressor inactivation Oncogene 9: 3313-3320, 1994.
[0016436]7024.Harada, H.; Willison, K.; Sakakibara, J.; Miyamoto, M.; Fujita, T.; Taniguchi, T.: Absence of the type I IFN system in EC cells: transcriptional activator (IRF-1) and repressor (IRF-2) genes are developmentally regulated. Cell 63: 303-312, 1990.
[0016437]7025.Itoh, S.; Harada, H.; Nakamura, Y.; White, R.; Taniguchi, T.: Assignment of the human interferon regulatory factor-1 (IRF1) gene to chromosome 5q23-q31. Genomics 10: 1097-1099, 1991.
[0016438]7026.Ko, J.; Gendron-Fitzpatrick, A.; Splitter, G. A.: Susceptibility of IFN regulatory factor-1 and IFN consensus sequence binding protein-deficient mice to brucellosis. J. Immun. 168: 2433-2440, 2002.
[0016439]7027.Miyamoto, M.; Fujita, T.; Kimura, Y.; Maruyama, M.; Harada, H.; Sudo, Y.; Miyata, T.; Taniguchi, T.: Regulated expression of a gene encoding a nuclear factor, IRF-1, that specifically binds to IFN-beta gene regulatory elements. Cell 54: 903-913, 1988.
[0016440]7028.Nozawa, H.; Oda, E.; Ueda, S.; Tamura, G.; Maesawa, C.; Muto, T.; Taniguchi, T.; Tanaka, N.: Functionally inactivating point mutation in the tumor-suppressor IRF-1 gene identified in human gastric cancer. Int. J. Cancer 77: 522-527, 1998.
[0016441]7029.Tamura, G.; Sakata, K.; Nishizuka, S.; Maesawa, C.; Suzuki, Y.; Terashima, M.; Eda, Y.; Satodate, R.: Allelotype of adenoma and differentiated adenocarcinoma of the stomach. J. Path. 180: 371-377, 1996.
[0016442]7030.Willman, C. L.; Sever, C. E.; Pallavicini, M. G.; Harada, H.; Tanaka, N.; Slovak, M. L.; Yamamoto, H.; Harada, K.; Meeker, T. C.; List, A. F.; Taniguchi, T.: Deletion of IRF-1, mapping to chromosome 5q31.1, in human leukemia and preleukemic myelodysplasia. Science 259: 968-971, 1993.
[0016443]7031.Yamada, G.; Ogawa, M.; Akagi, K.; Miyamoto, H.; Nakano, N.; Itoh, S.; Miyazaki, J.; Nishikawa, S.; Yamamura, K.; Taniguchi, T.: Specific depletion of the B-cell population induced by aberrant expression of human interferon regulatory factor 1 gene in transgenic mice. Proc. Nat. Acad. Sci. 88: 532-536, 1991.
[0016444]7032.Harada, H.; Kitagawa, M.; Tanaka, N.; Yamamoto, H.; Harada, K.; Ishihara, M.; Taniguchi, T.: Anti-oncogenic and oncogenic potentials of interferon regulatory factors-1 and -2. Science 259: 971-974, 1993.
[0016445]7033.Harada, H.; Takahashi, E.-I.; Itoh, S.; Harada, K.; Hori, T.-A.; Taniguchi, T.: Structure and regulation of the human interferon regulatory factor 1 (IRF-1) and IRF-2 genes: implications for a gene network in the interferon system. Molec. Cell. Biol. 14: 1500-1509, 1994.
[0016446]7034.Hida, S.; Ogasawara, K.; Sato, K.; Abe, M.; Takayanagi, H.; Yokochi, T.; Sato, T.; Hirose, S.; Shirai, T.; Taki, S.; Taniguchi, T.: CD8+ T cell-mediated skin disease in mice lacking IRF-2, the transcriptional attenuator of interferon-alpha/beta signaling. Immunity 13: 643-655, 2000.
[0016447]7035.Nishio, Y.; Noguchi, E.; Ito, S.; Ichikawa, E.; Umebayashi, Y.; Otsuka, F.; Arinami, T.: Mutation and association analysis of the interferon regulatory factor 2 gene (IRF2) with atopic dermatitis. J. Hum. Genet. 46: 664-667, 2001.
[0016448]7036.Guo, B.; Yu, Y.; Leibold, E. A.: Iron regulates cytoplasmic levels of a novel ironresponsive element-binding protein without aconitase activity. J. Biol. Chem. 269: 24252-24260, 1994.
[0016449]7037.Henderson, B. R.; Seiser, C.; Kuhn, L. C.: Characterization of a second RNA-binding protein in rodents with specificity for iron-responsive elements. J. Biol. Chem. 268: 27327-27334, 1993.
[0016450]7038.Hentze, M. W.; Kuhn, L. C.: Molecular control of vertebrate iron metabolism: mRNAbased regulatory circuits operated by iron, nitric oxide, and oxidative stress. Proc. Nat. Acad. Sci. 93: 8175-8182, 1996.
[0016451]7039.Iwai, K.; Klausner, R. D.; Rouault, T. A.: Requirements for iron-regulated degradation of the RNA binding protein, iron regulatory protein 2. EMBO J. 14: 5350-5357, 1995.
[0016452]7040.Rouault, T. A.; Tang, C. K.; Kaptain, S.; Burgess, W. H.; Haile, D. J.; Samaniego, F.; McBride, O. W.; Harford, J. B.; Klausner, R. D.: Cloning of the cDNA encoding an RNA regulatory protein: the human iron-responsive element-binding protein. Proc. Nat. Acad. Sci. 87: 7958-7962, 1990.
[0016453]7041.LaVaute, T.; Smith, S.; Cooperman, S.; Iwai, K.; Land, W.; Meyron-Holtz, E.; Drake, S. K.; Miller, G.; Abu-Asab, M.; Tsokos, M.; Switzer, R., III; Grinberg, A.; Love, P.; Tresser, N.; Rouault, T. A.: Targeted deletion of the gene encoding iron regulatory protein-2 causes misregulation of iron metabolism and neurodegenerative disease in mice. Nature Genet. 27: 209-214, 2001.
[0016454]7042.Samaniego, F.; Chin, J.; Iwai, K.; Rouault, T. A.; Klausner, R. D.: Molecular characterization of a second iron-responsive element binding protein, iron regulatory protein 2: structure, function, and post-translational regulation. J. Biol. Chem. 269: 30904-30910, 1994.
[0016455]7043.Kao, W. W.-Y.; Liu, C.-Y.; Converse, R. L.; Shiraishi, A.; Kao, C. W.-C.; Ishizaki, M.; Doetschman, T.; Duffy, J.: Keratin 12-deficient mice have fragile corneal epithelia. Invest. Ophthal. Vis. Sci. 37: 2572-2584, 1996.
[0016456]7044.Moll, R.; Franke, W. W.; Schiller, D. L.; Geiger, B.; Krepler, R.: The catalog of human cytokeratins: patterns of expression in normal epithelia, tumors and cultured cells. Cell 31: 11-24, 1982.
[0016457]7045.Raimondi, E.; Moralli, D.; De Carli, L.; Ceratto, N.; Balzaretti, M.; Leube, R.; Collin, C.; Romano, V.: Assignment of the human cytokeratin 3 gene (KRT3) to 12q12-q13 by FISH. Cytogenet. Cell Genet. 66: 162-163, 1994.
[0016458]7046.Schermer, A.; Galvin, S.; Sun, T.-T.: Differentiation-related expression of a major 64K corneal keratin in vivo and in culture suggests limbal location of corneal epithelial stem cells. J. Cell Biol. 103: 49-62, 1986.
[0016459]7047.Tremblay, M.; Dube, I.: Meesmann's corneal dystrophy: ultrastructural features. Canad. J. Ophthal. 17: 24-28, 1982.
[0016460]7048.Casanova, M. L.; Bravo, A.; Ramirez, A.; Morreale de Escobar, G.; Were, F.; Merlino, G.; Vidal, M.; Jorcano, J. L.: Exocrine pancreatic disorders in transsgenic (sic) mice expressing human keratin 8. J. Clin. Invest. 103: 1587-1595, 1999.
[0016461]7049.Jackson, B. W.; Grund, C.; Schmid, E.; Burke, K.; Franke, W.; Illmensee, K.: Formation of cytoskeletal elements during mouse embryogenesis: intermediate filaments of the cytokeratin type and desmosomes in preimplantation embryos. Differentiation 17: 161-179, 1980.
[0016462]7050.Ku, N.-O.; Gish, R.; Wright, T. L.; Omary, M. B.: Keratin 8 mutations in patients with cryptogenic liver disease. New Eng. J. Med. 344: 1580-1587, 2001.
[0016463]7051.Ku, N.-O.; Wright, T. L.; Terrault, N. A.; Gish, R.; Omary, M. B.: Mutation of human keratin 18 in association with cryptogenic cirrhosis. J. Clin. Invest. 99: 19-23, 1997.
[0016464]7052.Waseem, A.; Alexander, C. M.; Steel, J. B.; Lane, E. B.: Embryonic simple epithelial keratins 8 and 18: chromosomal location emphasizes difference from other keratin pairs. New Biologist 2: 464-478, 1990.
[0016465]7053.Yamamoto, R.; Kao, L.-C.; McKnight, C. E.; Strauss, J. F., III : Cloning and sequence of cDNA for human placental cytokeratin 8: regulation of the mRNA in trophoblastic cells by cAMP. Molec. Endocr. 4: 370-374, 1990.
[0016466]7054.Dunham, I.; Sargent, C. A.; Trowsdale, J.; Campbell, R. D.: Molecular mapping of the human major histocompatibility complex by pulsed-field gel electrophoresis. Proc. Nat. Acad. Sci. 84: 7237-7241, 1987.
[0016467]7055.Susa, S.; Daimon, M.; Kondo, H.; Kondo, M.; Yamatani, K.; Sasaki, H.: Identification of a novel mutation of the CPO gene in a Japanese hereditary coproporphyria family. Am. J. Med. Genet. 80: 204-206, 1998.
[0016468]7056.Taketani, S.; Kohno, H.; Furukawa, T.; Yoshinaga, T.; Tokunaga, R.: Molecular cloning, sequencing and expression of cDNA encoding human coproporphyrinogen oxidase. Biochim. Biophys. Acta 1183: 547-549, 1994.
[0016469]7057.Wiman, A.; Floderus, Y.; Harper, P.: Two novel mutations and coexistence of the 991CT and the 1339C-T mutation on a single allele in the coproporphyrinogen oxidase gene in Swedish patients with hereditary coproporphyria. J. Hum. Genet. 47: 407-412, 2002.
[0016470]7058.Kogan, S. C.; Lagasse, E.; Atwater, S.; Bae, S.; Weissman, I.; Ito, Y.; Bishop, J. M.: The PEBP2-beta-MYH11 fusion created by inv(16)(p13;q22) in myeloid leukemia impairs neutrophil maturation and contributes to granulocytic dysplasia. Proc. Nat. Acad. Sci. 95: 11863-11868, 1998.
[0016471]7059.Liu, P.; Tarle, S. A.; Hajra, A.; Claxton, D. F.; Marlton, P.; Freedman, M.; Siciliano, M. J.; Collins, F. S.: Fusion between transcription factor CBF-beta/PEBP2-beta and a myosin heavy chain in acute myeloid leukemia. Science 261: 1041-1044, 1993.
[0016472]7060.Liu, P. P.; Hajra, A.; Wijmenga, C.; Collins, F. S.: Molecular pathogenesis of the chromosome 16 inversion in the M4Eo subtype of acute myeloid leukemia. Blood 85: 2289-2302, 1995.
[0016473]7061.Lutterbach, B.; Hou, Y.; Durst, K. L.; Hiebert, S. W.: The inv(16) encodes an acute myeloid leukemia 1 transcriptional corepressor. Proc. Nat. Acad. Sci. 96: 12822-12827, 1999.
[0016474]7062.O'Reilly, J.; Chipper, L.; Springall, F.; Herrmann, R.: A unique structural abnormality of chromosome 16 resulting in a CBF-beta-MYH11 fusion transcript in a patient with acute myeloid leukemia, FAB M4. Cancer Genet. Cytogenet. 121: 52-55, 2000.
[0016475]7063.Ogawa, E.; Inuzuka, M.; Maruyama, M.; Satake, M.; Naito-Fujimoto, M.; Ito, Y.; Shigesada, K.: Molecular cloning and characterization of PEBP2-beta, the heterodimeric partner of a novel Drosophila runt-related DNA binding protein PEBP2-alpha. Virology 194: 314-331, 1993.
[0016476]7064.Wang, S.; Wang, Q.; Crute, B. E.; Melnikova, I. N.; Keller, S. R.; Speck, N. A.: Cloning and characterization of subunits of the T-cell receptor and murine leukemia virus enhancer core-binding factor. Molec. Cell. Biol. 13: 3324-3339, 1993.
[0016477]7065.Pellegata, N. S.; Dieguez-Lucena, J. L.; Joensuu, T.; Lau, S.; Montgomery, K. T.; Krahe, R.; Kivela, T.; Kucherlapati, R.; Forsius, H.; de la Chapelle, A.: Mutations in KERA, encoding keratocan, cause cornea plana. Nature Genet. 25: 91-95, 2000.
[0016478]7066.Brooks, B. A.; McBride, O. W.; Dolphin, C. T.; Farrall, M.; Scambler, P. J.; Gonzalez, F. J.; Idle, J. R.: The gene CYP3 encoding P450PCN1 (nifedipine oxidase) is tightly linked to the gene COL1A2 encoding collagen type 1 alpha on 7q21-q22.1. Am. J. Hum. Genet. 43: 280-284, 1988.
[0016479]7067.Chen, H.; Sandler, D. P.; Taylor, J. A.; Shore, D. L.; Liu, E.; Bloomfield, C. D.; Bell, D. A.: Increased risk for myelodysplastic syndromes in individuals with glutathione transferase theta 1 (GSTT1) gene defect. Lancet 347: 295-297, 1996.
[0016480]7068.Daly, A. K.; Salh, B. S.; Bilton, D.; Allen, J.; Knight, A. D.; Webb, A. K.; Braganza, J. M.; Idle, J. R.: Deficient nifedipine oxidation: a rare inherited trait associated with cystic fibrosis kindreds. Pharmacogenetics 2: 19-24, 1992.
[0016481]7069.Elshourbagy, N. A.; Guzelian, P. S.: Separation, purification, and characterization of a novel form of hepatic cytochrome P-450 from rats treated with pregnenolone-16-alpha-carbonitrile. J. Biol. Chem. 255: 1279-1285, 1980.
[0016482]7070.Felix, C. A.; Walker, A. H.; Lange, B. J.; Williams, T. M.; Winick, N. J.; Cheung, N.-K. V.; Lovett, B. D.; Nowell, P. C.; Blair, I. A.; Rebbeck, T. R.: Association of CYP3A4 genotype with treatment-related leukemia. Proc. Nat. Acad. Sci. 95: 13176-13181, 1998.
[0016483]7071.Forrester, L. M.; Neal, G. E.; Judah, D. J.; Glancey, M. J.; Wolf, C. R.: Evidence for involvement of multiple forms of cytochrome P-450 in aflatoxin B(1) metabolism in human liver. Proc. Nat. Acad. Sci. 87: 8306-8310, 1990.
[0016484]7072.Gonzalez, F. J.; Schmid, B. J.; Umeno, M.; McBride, O. W.; Hardwick, J. P.; Meyer, U. A.; Gelboin, H. V.; Idle, J. R.: Human P450PCN1: sequence, chromosome localization, and direct evidence through cDNA expression that P450PCN1 is nifedipine oxidase. DNA 7: 79-86, 1988.
[0016485]7073.Hoyo-Vadillo, C.; Castaneda-Hernandez, G.; Herrera, J. E.; Vidal-Garate, J.; Moreno-Ramos, A.; Chavez, F.; Hong, E.: Pharmacokinetics of nifedipine slow release tablet in Mexican subjects: further evidence for an oxidation polymorphism. J. Clin. Pharm. 29: 816-820, 1989.
[0016486]7074.Inoue, K.; Inazawa, J.; Nakagawa, H.; Shimada, T.; Yamazaki, H.; Guengerich, F. P.; Abe, T.: Assignment of the human cytochrome P-450 nifedipine oxidase gene (CYP3A4) to chromosome 7 at band q22.1 by fluorescence in situ hybridization. Jpn. J. Hum. Genet. 37: 133-138, 1992.
[0016487]7075.Kittles, R. A.; Chen, W.; Panguluri, R. K.; Ahaghotu, C.; Jackson, A.; Adebamowo, C. A.; Griffin, R.; Williams, T.; Ukoli, F.; Adams-Campbell, L.; Kwagyan, J.; Isaacs, W.; Freeman, V.; Dunston, G. M.: CYP3A4-V and prostate cancer in African Americans: causal or confounding association because of population stratification? Hum. Genet. 110: 553-560, 2002.
[0016488]7076.Kleinbloesem, C. H.; van Brummelen, P.; Faber, H.; Danhof, M.; Vermeulen, N. P. E.; Breimer, D. D.: Variability in nifedipine pharmacokinetics and dynamics: a new oxidation polymorphism in man. Biochem. Pharm. 33: 3721-3724, 1984.
[0016489]7077.Lehmann, J. M.; McKee, D. D.; Watson, M. A.; Willson, T. M.; Moore, J. T.; Kliewer, S. A.: The human orphan nuclear receptor PXR is activated by compounds that regulate CYP3A4 gene expression and cause drug interactions. J. Clin. Invest. 102: 1016-1023, 1998.
[0016490]7078.Lown, K. S.; Bailey, D. G.; Fontana, R. J.; Janardan, S. K.; Adair, C. H.; Fortlage, L. A.; Brown, M. B.; Guo, W.; Watkins, P. B.: Grapefruit juice increases felodipine oral availability in humans by decreasing intestinal CYP3A protein expression. J. Clin. Invest. 99: 2545-2553, 1997.
[0016491]7079.Molowa, D. T.; Schuetz, E. G.; Wrighton, S. A.; Watkins, P. B.; Kremers, P.; Mendez-Picon, G.; Parker, G. A.; Guzelian, P. S.: Complete cDNA sequence of a cytochrome P-450 inducible by glucocorticoids in human liver. Proc. Nat. Acad. Sci. 83: 5311-5315, 1986.
[0016492]7080.Paris, P. L.; Kupelian, P. A.; Hall, J. M.; Williams, T. L.; Levin, H.; Klein, E. A.; Casey, G.; Witte, J. S.: Association between a CYP3A4 genetic variant and clinical presentation in African-American prostate cancer patients. Cancer Epidemiol. Biomarkers Prev. 8: 901-905, 1999.
[0016493]7081.Rebbeck, T. R.; Jaffe, J. M.; Walker, A. H.; Wein, A. J.; Malkowicz, S. B.: Modification of clinical presentation of prostate tumors by a novel genetic variant in CYP3A4. J. Nat. Cancer Inst. 90: 1225-1229, 1998.
[0016494]7082.Renwick, A. G.; Robertson, D. R. C.; Macklin, B.; Challenor, V.; Waller, D. G.; George, C. F.: The pharmacokinetics of oral nifedipine--a population study. Brit. J. Clin. Pharm. 25: 701-708, 1988.
[0016495]7083.Spielberg, S. P.: Personal Communication. Toronto, Ontario, Canada 2/26/1988.
[0016496]7084.Thum, T.; Borlak, J.: Gene expression in distinct regions of the heart. Lancet 355: 979-983, 2000.
[0016497]7085.Chen, Y.; Faraco, J.; Yin, W.; Germiller, J.; Francke, U.; Bonadio, J.: Structure, chromosomal localization, and expression pattern of the murine Magp gene. J. Biol. Chem. 268: 27381-27389, 1993.
[0016498]7086.Faraco, J.; Bashir, M.; Rosenbloom, J.; Francke, U.: Characterization of the human gene for microfibril-associated glycoprotein (MFAP2), assignment to chromosome 1p36.1-p35, and linkage to D1S170. Genomics 25: 630-637, 1995.
[0016499]7087.Gibson, M. A.; Hughes, J. L.; Fanning, J. C.; Cleary, E. G.: The major antigen of elastinassociated microfibrils is a 31-kDa glycoprotein. J. Biol. Chem. 261: 11429-11436, 1986.
[0016500]7088.Low, F. N.: Microfibrils: fine filamentous components of the tissue space. Anat. Rec. 142: 131-137, 1962.
[0016501]7089.Bondurand, N.; Pingault, V.; Goerich, D. E.; Lemort, N.; Sock, E.; Le Caignec, C.; Wegner, M.; Goossens, M.: Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome. Hum. Molec. Genet. 9: 1907-1917, 2000.
[0016502]7090.Kelavkar, U. P.; Badr, K. F.: Effects of mutant p53 expression on human 15-lipoxygenase-promoter activity and murine 12/15-lipoxygenase gene expression: evidence that 15-lipoxygenase is a mutator gene. Proc. Nat. Acad. Sci. 96: 4378-4383, 1999.
[0016503]7091.Sigal, E.; Craik, C. S.; Highland, E.; Grunberger, D.; Costello, L. L.; Dixon, R. A. F.; Nadel, J. A.: Molecular cloning and primary structure of human 15-lipoxygenase. Biochem. Biophys. Res. Commun. 157: 457-464, 1988.
[0016504]7092.Yoshimoto, T.; Suzuki, H.; Yamamoto, S.; Takai, T.; Yokoyama, C.; Tanabe, T.: Cloning and sequence analysis of the cDNA for arachidonate 12-lipoxygenase of porcine leukocytes. Proc. Nat. Acad. Sci. 87: 2142-2146, 1990.
[0016505]7093.Minoshima, S.; Fukuyama, R.; Yamamoto, T.; Shimizu, N.: Mapping of human longchain acyl-CoA synthetase to chromosome 4. (Abstract) Cytogenet. Cell Genet. 58: 1888 only, 1991.
[0016506]7094.Cantu, E. S.; Sprinkle, T. J.; Ghosh, B.; Singh, I.: The human palmitoyl-CoA ligase (FACL2) gene maps to the chromosome 4q34-q35 region by fluorescence in situ hybridization (FISH) and somatic cell hybrid panels. Genomics 28: 600-602, 1995.
[0016507]7095.Adelman, J. P.; Bond, C. T.; Douglass, J.; Herbert, E.: Two mammalian genes transcribed from opposite strands of the same DNA locus. Science 235: 1514-1517, 1987.
[0016508]7096.Adelman, J. P.; Mason, A. J.; Hayflick, J. S.; Seeburg, P. H.: Isolation of the gene and hypothalamic cDNA for the common precursor of gonadotropin-releasing hormone and prolactin releaseinhibiting factor in human and rat. Proc. Nat. Acad. Sci. 83: 179-183, 1986.
[0016509]7097.Barni, T.; Maggi, M.; Fantoni, G.; Granchi, S.; Mancina, R.; Gulisano, M.; Marra, F.; Macorsini, E.; Luconi, M.; Rotella, C.; Serio, M.; Balboni, G. C.; Vannelli, G. B.: Sex steroids and odorants modulate gonadotropin-releasing hormone secretion in primary cultures of human olfactory cells. J. Clin. Endocr. Metab. 84: 4266-4273, 1999.
[0016510]7098.Casan, E. M.; Raga, F.; Bonilla-Musoles, F.; Polan, M. L.: Human oviductal gonadotropin-releasing hormone: possible implications in fertilization, early embryonic development, and implantation. J. Clin. Enodcr. Metab. 85: 1377-1381, 2000.
[0016511]7099.Cattanach, B. M.; Iddon, C. A.; Charlton, H. M.; Chiappa, S. A.; Fink, G.: Gonadotrophin-releasing hormone deficiency in a mutant mouse with hypogonadism. Nature 269: 338-340, 1977.
[0016512]7100.Dong, K.-W.; Yu, K.-L.; Chen, Z.-G.; Chen, Y.-D.; Roberts, J. L. : Characterization of multiple promoters directing tissue-specific expression of the human gonadotropin-releasing hormone gene. Endocrinology 138: 2754-2762, 1997.
[0016513]7101.Dong, K.-W.; Zheng, H.-M.; Wen, Z.-Y.; Chen, Z.-G.: The POU homeodomain protein Oct-1 binds cis-regulatory element essential for the human GnRH upstream promoter activity in the JEG-3 cells. J. Clin. Endocr. Metab. 86: 2838-2844, 2001.
[0016514]7102.Duan, W. R.; Ito, M.; Park, Y.; Maizels, E. T.; Hunzicker-Dunn, M.; Jameson, J. L.: GnRH regulates early growth response protein 1 transcription through multiple promoter elements. Molec. Endocr. 16: 221-233, 2002.
[0016515]7103.Eraly, S. A.; Nelson, S. B.; Huang, K. M.; Mellon, P. L.: Oct-1 binds promoter elements required for transcription of the GnRH gene. Molec. Endocr. 12: 469-481, 1998.
[0016516]7104.Ewer, R. W.: Familial monotropic pituitary gonadotropin insufficiency. J. Clin. Endocr. 28: 783-788, 1968.
[0016517]7105.Gibson, M. J.; Krieger, D. T.; Charlton, H. M.; Zimmerman, E. A.; Silverman, A.-J.; Perlow, M. J.: Mating and pregnancy can occur in genetically hypogonadal mice with preoptic area brain grafts. Science 225: 949-951, 1984.
[0016518]7106.Hayflick, J. S.; Adelman, J. P.; Seeburg, P. H.: The complete nucleotide sequence of the human gonadotropin-releasing hormone gene. Nucleic Acids Res. 17: 6403-6404, 1989.
[0016519]7107.Kelley, C. G.; Lavorgna, G.; Clark, M. E.; Boncinelli, E.; Mellon, P. L.: The Otx2 homeoprotein regulates expression from the gonadotropin-releasing hormone proximal promoter. Molec. Endocr. 14: 1246-1256, 2000.
[0016520]7108.Lawson, M. A.; Buhain, A. R.; Jovenal, J. C.; Mellon, P. L.: Multiple factors interacting at the GATA sites of the gonadotropin-releasing hormone neuron-specific enhancer regulate gene expression. Molec. Endocr. 12: 364-377, 1998.
[0016521]7109.Mason, A. J.; Pitts, S. L.; Nikolics, K.; Szonyi, E.; Wilcox, J. N.; Seeburg, P. H.; Stewart, T. A.: The hypogonadal mouse: reproductive functions restored by gene therapy. Science 234: 1372-1378, 1986.
[0016522]7110.Nachtigall, L. B.; Boepple, P. A.; Pralong, F. P.; Crowley, W. F., Jr.: Adult-onset idiopathic hypogonadotropic hypogonadism: a treatable form of male infertility. New Eng. J. Med. 336: 410-415, 1997.
[0016523]7111.Nikolics, K.; Mason, A. J.; Szonyi, E.; Ramachandran, J.; Seeburg, P. H.: A prolactininhibiting factor within the precursor for human gonadotropin-releasing hormone. Nature 316: 511-517, 1985.
[0016524]7112.Seeburg, P. H.; Adelman, J. P.: Characterization of cDNA for precursor of human luteinizing hormone releasing hormone. Nature 311: 666-668, 1984.
[0016525]7113.Williamson, P.; Lang, J.; Boyd, Y.: The gonadotropin-releasing hormone (Gnrh) gene maps to mouse chromosome 14 and identifies a homologous region on human chromosome 8. Somat. Cell Molec. Genet. 17: 609-615, 1991.
[0016526]7114.Wolfe, A.; Kim, H. H.; Tobet, S.; Stafford, D. E. J.; Radovick, S.: Identification of a discrete promoter region of the human GnRH gene that is sufficient for directing neuron-specific expression: a role for POU homeodomain transcription factors. Molec. Endocr. 16: 435-449, 2002.
[0016527]7115.Yang-Feng, T. L.; Seeburg, P. H.; Francke, U.: Human luteinizing hormone-releasing hormone gene (LHRH) is located on short arm of chromosome 8 (region 8p11.2-p21). Somat. Cell Molec. Genet. 12: 95-100, 1986.
[0016528]7116.Axelrod, L.; Neer, R. M.; Kliman, B.: Hypogonadism in a male with immunologically active, biologically inactive luteinizing hormone: an exception to a venerable rule. J. Clin. Endocr. Metab. 48: 279-287, 1979.
[0016529]7117.Beitins, I. Z.; Axelrod, L.; Ostrea, T.; Little, R.; Badger, T. M.: Hypogonadism in a male with an immunologically active, biologically inactive luteinizing hormone: characterization of the abnormal hormone. J. Clin. Endocr. Metab. 52: 1143-1149, 1981.
[0016530]7118.Curtin, D.; Jenkins, S.; Farmer, N.; Anderson, A. C.; Haisenleder, D. J.; Rissman, E.; Wilson, E. M.; Shupnik, M. A.: Androgen suppression of GnRH-stimulated rat LH-beta gene transcription occurs through Sp1 sites in the distal GnRH-responsive promoter region. Molec. Endocr. 15: 1906-1917, 2001.
[0016531]7119.Furui, K.; Suganuma, N.; Tsukahara, S.-I.; Asada, Y.; Kikkawa, F.; Tanaka, M.; Ozawa, T.; Tomoda, Y.: Identification of two point mutations in the gene coding luteinizing hormone (LH) betasubunit, associated with immunologically anomalous LH variants. J. Clin. Endocr. Metab. 78: 107-113, 1994.
[0016532]7120.Hibberd, M. L.; Sumiya, M.; Summerfield, J. A.; Booy, R.; Levin, M.; Meningococcal Research Group: Association of variants of the gene for mannose-binding lectin with susceptibility to meningococcal disease. Lancet 353: 1049-1053, 1999.
[0016533]7121.Jack, D.; Bidwell, J.; Turner, M.; Wood, N.: Simultaneous genotyping for all three known structural mutations in the human mannose-binding lectin gene. Hum. Mutat. 9: 41-46, 1997.
[0016534]7122.Lipscombe, R. J.; Sumiya, M.; Hill, A. V. S.; Lau, Y. L.; Levinsky, R. J.; Summerfield, J. A.; Turner, M. W.: High frequencies in African and non-African populations of independent mutations in the mannose binding protein gene. Hum. Molec. Genet. 1: 709-715, 1992.
[0016535]7123.Madsen, H. O.; Garred, P.; Kurtzhals, J. A. L.; Lamm, L. U.; Ryder, L. P.; Thiel, S.; Svejgaard, A.: A new frequent allele is the missing link in the structural polymorphism of the human mannan-binding protein. Immunogenetics 40: 37-44, 1994.
[0016536]7124.Orren, A.; Potter, P. C.; Cooper, R. C.; du Toit, E.: Deficiency of the sixth component of complement and susceptibility to Neisseria meningitidis infections: studies in 10 families and five isolated cases. Immunology 62: 249-253, 1987.
[0016537]7125.Sastry, K.; Herman, G. A.; Day, L.; Deignan, E.; Bruns, G.; Morton, C. C.; Ezekowitz, R. A. B.: The human mannose-binding protein gene: exon structure reveals its evolutionary relationship to a human pulmonary surfactant gene and localization to chromosome 10. J. Exp. Med. 170: 1175-1189, 1989.
[0016538]7126.Schuffenecker, I.; Narod, S. A.; Ezekowitz, R. A. B.; Sobol, H.; Feunteun, J.; Lenoir, G. M.: The gene for mannose-binding protein maps to chromosome 10 and is a marker for multiple endocrine neoplasia type 2. Cytogenet. Cell Genet. 56: 99-102, 1991.
[0016539]7127.Soothill, J. F.; Harvey, B. A.: Defective opsonization: a common immunity deficiency. Arch. Dis. Child 51: 91-99, 1976.
[0016540]7128.Sumiya, M.; Super, M.; Tabona, P.; Levinsky, R. J.; Arai, T.; Turner, M. W.; Summerfield, J. A.: Molecular basis of opsonic defect in immunodeficient children. Lancet 337: 1569-1570, 1991.
[0016541]7129.Summerfield, J. A.; Ryder, S.; Sumiya, M.; Thursz, M.; Gorchein, A.; Monteil, M. A.; Turner, M. W.: Mannose binding protein gene mutations associated with unusual and severe infections in adults. Lancet 345: 886-889, 1995.
[0016542]7130.Summerfield, J. A.; Sumiya, M.; Levin, M.; Turner, M. W.: Association of mutations in mannose binding protein gene with childhood infection in consecutive hospital series. Brit. Med. J. 314: 1229-1231, 1997.
[0016543]7131.Super, M.; Gillies, S. D.; Foley, S.; Sastry, K.; Schweinle, J.-E.; Silverman, V. J.; Ezekowitz, R. A. B.: Distinct and overlapping functions of allelic forms of human mannose binding protein. Nature Genet. 2: 50-55, 1992.
[0016544]7132.Super, M.; Thiel, S.; Lu, J.; Levinsky, R. J.; Turner, M. W.: Association of low levels of mannose-binding protein with a common defect of opsonization. Lancet II: 1236-1239, 1989.
[0016545]7133.Taylor, M. E.; Brickell, P. M.; Craig, R. K.; Summerfield, J. A.: Structure and evolutionary origin of the gene encoding a human serum mannose-binding protein. Biochem. J. 262: 763-771, 1989.
[0016546]7134.Turner, M. W.: Deficiency of mannan binding protein--a new complement deficiency syndrome. Clin. Exp. Immun. 86 (suppl. 1): 53-56, 1991.
[0016547]7135.Turner, M. W.; Dinan, L.; Heatley, S.; Jack, D. L.; Boettcher, B.; Lester, S.; McCluskey, J.; Roberton, D.: Restricted polymorphism of the mannose-binding lectin gene of indigenous Australians. Hum. Molec. Genet. 9: 1481-1486, 2000.
[0016548]7136.White, R. A.; Dowler, L. L.; Adkison, L. R.; Ezekowitz, R. A. B.; Sastry, K. N.: The murine mannose-binding protein genes (Mbl 1 and Mbl 2) localize to chromosomes 14 and 19. Mammalian Genome 5: 807-809, 1994.
[0016549]7137.Chern, C. J.; Croce, C. M.: Confirmation of the synteny of the human genes for mannose phosphate isomerase and pyruvate kinase and of their assignment to chromosome 15. Cytogenet. Cell Genet. 15: 299-305, 1975.
[0016550]7138.Brook, J. D.; Shaw, D. J.; Meredith, A. L.; Bruns, G. A. P.; Harper, P. S.: Localisation of genetic markers and orientation of the linkage group on chromosome 19. Hum. Genet. 68: 282-285, 1984.
[0016551]7139.Bruns, G. A. P.; Regina, V. M.; Gerald, P. S.: Lysosomal DNase and chromosome 19.(Abstract) J. Cell Biol. 83: 444a only, 1979.
[0016552]7140.Kawane, K.; Fukuyama, H.; Kondoh, G.; Takeda, J.; Ohsawa, Y.; Uchiyama, Y.; Nagata, S.: Requirement of DNase II for definitive erythropoiesis in the mouse fetal liver. Science 292: 1546-1549, 2001.
[0016553]7141.Yasuda, T.; Nadano, D.; Sawazaki, K.; Kishi, K.: Genetic polymorphism of human deoxyribonuclease II (DNase II): low activity levels in urine and leukocytes are due to an autosomal recessive allele. Ann. Hum. Genet. 56: 1-10, 1992.
[0016554]7142.Yasuda, T.; Takeshita, H.; Iida, R.; Nakajima, T.; Hosomi, O.; Nakashima, Y.; Kishi, K.: Molecular cloning of the cDNA encoding human deoxyribonuclease II. J. Biol. Chem. 273: 2610-2616, 1998.
[0016555]7143.Yasuda, T.; Takeshita, H.; Iida, R.; Nakajima, T.; Hosomi, O.; Nakashima, Y.; Mogi, K.; Kishi, K.: Chromosomal localization of a human deoxyribonuclease II gene (DNASE2) to 19p13.2-p13.1 using both the polymerase chain reaction and fluorescence in situ hybridization analysis. Biochem. Biophys. Res. Commun. 244: 815-818, 1998.
[0016556]7144.Baylin, S. B.: Tying it all together: epigenetics, genetics, cell cycle, and cancer. Science 277: 1948-1949, 1997.
[0016557]7145.Bestor, T.; Laudano, A.; Mattaliano, R.; Ingram, V.: Cloning and sequencing of a cDNA encoding DNA methyltransferase of mouse cells: the carboxyl-terminal domain of the mammalian enzymes is related to bacterial restriction methyltransferases. J. Molec. Biol. 203: 971-983, 1988.
[0016558]7146.Bestor, T. H.: The DNA methyltransferases of mammals. Hum. Molec. Genet. 9: 2395-2402, 2000.
[0016559]7147.Bestor, T. H.: DNA methylation: evolution of a bacterial immune function into a regulator of gene expression and genome structure in higher eukaryotes. Phil. Trans. Roy. Soc. London B 326: 179-187, 1990.
[0016560]7148.Chuang, L. S.-H.; Ian, H.-I.; Koh, T.-W.; Ng, H.-H.; Xu, G.; Li, B. F. L.: Human DNA-(cytosine-5) methyltransferase-PCNA complex as a target for p21(WAF1). Science 277: 1996-2000, 1997.
[0016561]7149.El-Deiry, W. S.; Nelkin, B. D.; Celano, P.; Chiu Yen, R.-W.; Falco, J. P.; Hamilton, S. R.; Baylin, S. B.: High expression of the DNA methyltransferase gene characterizes human neoplastic cells and progression stages of colon cancer. Proc. Nat. Acad. Sci. 88: 3470-3474, 1991.
[0016562]7150.Fuks, F.; Burgers, W. A.; Brehm, A.; Hughes-Davies, L.; Kouzarides, T.: DNA methyltransferase Dnmt1 associates with histone deacetylase activity. Nature Genet. 24: 88-91, 2000.
[0016563]7151.Howell, C. Y.; Bestor, T. H.; Ding, F.; Latham, K. E.; Mertineit, C.; Trasler, J. M.; Chaillet, J. R.: Genomic imprinting disrupted by a maternal effect mutation in the Dnmt1 gene. Cell 104: 829-838, 2001.
[0016564]7152.Hsu, D.-W.; Lin, M.-J.; Lee, T.-L.; Wen, S.-C.; Chen, X.; Shen, C.-K. J.: Two major forms of DNA (cytosine-5) methyltransferase in human somatic tissues. Proc. Nat. Acad. Sci. 96: 9751-9756, 1999.
[0016565]7153.Lee, P. P.; Fitzpatrick, D. R.; Beard, C.; Jessup, H. K.; Lehar, S.; Makar, K. W.; Perez-Melgosa, M.; Sweetser, M. T.; Schlissel, M. S.; Nguyen, S.; Cherry, S. R.; Tsai, J. H.; Tucker, S. M.; Weaver, W. M.; Kelso, A.; Jaenisch, R.; Wilson, C. B.: A critical role for Dnmt1 and DNA methylation in T cell development, function, and survival. Immunity 15: 763-774, 2001.
[0016566]7154.Li, E.; Bestor, T. H.; Jaenisch, R.: Targeted mutation of the DNA methyltransferase gene results in embryonic lethality. Cell 69: 915-926, 1992.
[0016567]7155.Lyko, F.; Ramsahoye, B. H.; Kashevsky, H.; Tudor, M.; Mastrangelo, M.-A.; Orr-Weaver, T. L.; Jaenisch, R.: Mammalian (cytosine-5) methyltransferases cause genomic DNA methylation and lethality in Drosophila. Nature Genet. 23: 363-366, 1999.
[0016568]7156.Rhee, I.; Bachman, K. E.; Park, B. H.; Jair, K.-W.; Yen, R.-W. C.; Schuebel, K. E.; Cui, H.; Feinberg, A. P.; Lengauer, C.; Kinzler, K. W.; Baylin, S. B.; Vogelstein, B.: DNMT1 and DNMT3b cooperate to silence genes in human cancer cells. Nature 416: 552-556, 2002.
[0016569]7157.Rhee, I.; Jair, K.-W.; Yen, R-W. C.; Lengauer, C.; Herman, J. G.; Kinzler, K. W.; Vogelstein, B.; Baylin, S. B.; Schuebel, K. E. : CpG methylation is maintained in human cancer cells lacking DNMT1. Nature 404: 1003-1007, 2000.
[0016570]7158.Robertson, K. D.; Ait-Si-Ali, S.; Yokochi, T.; Wade, P. A.; Jones, P. L.; Wolffe, A. P.: DNMT1 forms a complex with Rb, E2F1 and HDAC1 and represses transcription from E2F-responsive promoters. Nature Genet. 25: 338-342, 2000.
[0016571]7159.Rouleau, J.; Tanigawa, G.; Szyf, M.: The mouse DNA methyltransferase 5-prime region: a unique housekeeping gene promoter. J. Biol. Chem. 267: 7368-7377, 1992.
[0016572]7160.Rountree, M. R.; Bachman, K. E.; Baylin, S. B.: DNMT1 binds HDAC2 and a new corepressor, DMAP1, to form a complex at replication foci. Nature Genet. 25: 269-277, 2000.
[0016573]7161.Tucker, K. L.; Talbot, D.; Lee, M. A.; Leonhardt, H.; Jaenisch, R.: Complementation of methylation deficiency in embryonic stem cells by a DNA methyltransferase minigene. Proc. Nat. Acad. Sci. 93: 12920-12925, 1996.
[0016574]7162.Yen, R.-W. C.; Vertino, P. M.; Nelkin, B. D.; Yu, J. J.; El-Deiry, W.; Cumaraswamy, A.; Lennon, G. G.; Trask, B. J.; Celano, P.; Baylin, S. B.: Isolation and characterization of the cDNA encoding human DNA methyltransferase. Nucleic Acids Res. 20: 2287-2291, 1992.
[0016575]7163.Ye, Q.; Chung, L. W. K.; Li, S.; Zhau, H. E.: Identification of a novel FAS/ER-alpha fusion transcript expressed in human cancer cells. Biochim. Biophys. Acta 1493: 373-377, 2000.
[0016576]7164.Zuppan, P.; Hall, J. M.; Lee, M. K.; Ponglikitmongkol, M.; King, M.-C.: Possible linkage of the estrogen receptor gene to breast cancer in a family with late-onset disease. Am. J. Hum. Genet. 48: 1065-1068, 1991.
[0016577]7165.Zuppan, P. J.; Hall, J. M.; Ponglikitmongkol, M.; Spielman, R.; King, M. C.: Polymorphisms at the estrogen receptor (ESR) locus and linkage relationships on chromosome 6q. (Abstract) Cytogenet. Cell Genet. 51: 1116 only, 1989.
[0016578]7166.Calabi, F.; Cilli, V.: CBFA2T1, a gene rearranged in human leukemia, is a member of a multigene family. Genomics 52: 332-341, 1998.
[0016579]7167.Erickson, P.; Gao, J.; Chang, K.-S.; Look, T.; Whisenant, E.; Raimondo, S.; Lasher, R.; Trujillo, J.; Rowley, J. D.; Drabkin, H. A.: Identification of breakpoints in t(8;21) acute myelogenous leukemia and isolation of a fusion transcript, AML1/ETO, with similarity to Drosophila segmentation gene, runt. Blood 80: 1825-1831, 1992.
[0016580]7168.Miyamoto, T.; Weissman, I. L.; Akashi, K.: AML1/ETO-expressing nonleukemic stem cells in acute myelogenous leukemia with 8;21 chromosomal translocation. Proc. Nat. Acad. Sci. 97: 7521-7526, 2000.
[0016581]7169.Miyoshi, H.; Kozu, T.; Shimizu, K.; Enomoto, K.; Maseki, N.; Kaneko, Y.; Kamada, N.; Ohki, M.: The t(8;21) translocation in acute myeloid leukemia results in production of an AML1-MTG8 fusion transcript. EMBO J. 12: 2715-2721, 1993.
[0016582]7170.Miyoshi, H.; Shimizu, K.; Kozu, T.; Maseki, N.; Kaneko, Y.; Ohki, M.: t(8;21) breakpoints on chromosome 21 in acute myeloid leukemia are clustered within a limited region of a single gene, AML1. Proc. Nat. Acad. Sci. 88: 10431-10434, 1991.
[0016583]7171.Linggi, B.; Muller-Tidow, C.; van de Locht, L.; Hu, M.; Nip, J.; Serve, H.; Berdel, W. E.; van der Reijden, B.; Quelle, D. E.; Rowley, J. D.; Cleveland, J.; Jansen, J. H.; Pandolfi, P. P.; Hiebert, S. W.: The t(8;21) fusion protein, AML1-ETO, specifically represses the transcription of the p14(ARF) tumor suppressor in acute myeloid leukemia. Nature Med. 8: 743-750, 2002.
[0016584]7172.Minucci, S.; Maccarana, M.; Cioce, M.; De Luca, P.; Gelmetti, V.; Segalla, S.; Di Croce, L.; Giavara, S.; Matteucci, C.; Gobbi, A.; Bianchini, A.; Colombo, E.; Schiavoni, I.; Badaracco, G.; Hu, X.; Lazar, M. A.; Landsberger, N.; Nervi, C.; Pelicci, P. G.: Oligomerization of RAR and AML1 transcription factors as a novel mechanism of oncogenic activation. Molec. Cell 5: 811-820, 2000.
[0016585]7173.Niwa-Kawakita, M.; Miyoshi, H.; Gotoh, O.; Matsushima, Y.; Nishimura, M.; Shisa, H.; Ohki, M.: Cloning and gene mapping of the mouse homologue of the CBFA2T1 gene associated with human acute myeloid leukemia. Genomics 29: 755-759, 1995.
[0016586]7174.Nucifora, G.; Rowley, J. D.: The AML1 and ETO genes in acute myeloid leukemia with a t(8;21). Leukemia Lymphoma 14: 353-362, 1994.
[0016587]7175.Schoch, C.; Kohlmann, A.; Schnittger, S.; Brors, B.; Dugas, M.; Mergenthaler, S.; Kern, W.; Hiddemann, S.; Eils, R.; Haferlach, T. : Acute myeloid leukemias with reciprocal rearrangements can be distinguished by specific gene expression profiles. Proc. Nat. Acad. Sci. 99: 10008-10013, 2002.
[0016588]7176.Wolford, J. K.; Bogardus, C.; Prochazka, M.: Polymorphism in the 3-prime untranslated region of MTG8 is associated with obesity in Pima Indian males. Biochem. Biophys. Res. Commun. 246: 624-626, 1998.
[0016589]7177.Wolford, J. K.; Prochazka, M.: Structure and expression of the human MTG8/ETO gene. Gene 212: 103-109, 1998.
[0016590]7178.Yergeau, D. A.; Hetherington, C. J.; Wang, Q.; Zhang, P.; Sharpe, A. H.; Binder, M.; Marin-Padilla, M.; Tenen, D. G.; Speck, N. A.; Zhang, D.-E.: Embryonic lethality and impairment of haematopoiesis in mice heterozygous for an AML1-ETO fusion gene. Nature Genet. 15: 303-306, 1997.
[0016591]7179.Pause, A.; Belsham, G. J.; Gingras, A.-C.; Donze, O.; Lin, T.-A.; Lawrence, J. C., Jr.; Sonenberg, N.: Insulin-dependent stimulation of protein synthesis by phosphorylation of a regulator of 5-prime-cap function. Nature 371: 762-767, 1994.
[0016592]7180.Pyronnet, S.; Imataka, H.; Gingras, A.-C.; Fukunaga, R.; Hunter, T.; Sonenberg, N.: Human eukaryotic translation initiation factor 4G (eIF4G) recruits Mnk1 to phosphorylate eIF4E. EMBO J. 18: 270-279, 1999.
[0016593]7181.Waskiewicz, A. J.; Flynn, A.; Proud, C. G.; Cooper, J. A.: Mitogen-activated protein kinases activate the serine/threonine kinases Mnk1 and Mnk2. EMBO J. 16: 1909-1920, 1997.
[0016594]7182.Zhang, Y.; Saison, M.; Spaepen, M.; De Strooper, B.; Van Leuven, F.; David, G.; Van den Berghe, H.; Cassiman, J.-J.: Mapping of human fibronectin receptor beta subunit gene to chromosome 10. Somat. Cell Molec. Genet. 14: 99-104, 1988.
[0016595]7183.Kondoh, S.; Sugawara, H.; Harada, N.; Matsumoto, N.; Ohashi, H.; Sato, M.; Kantaputra, P. N.; Ogino, T.; Tomita, H.; Ohta, T.; Kishino, T.; Fukushima, Y.; Niikawa, N.; Yoshiura, K.: A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet. J. Hum. Genet. 47: 136-139, 2002.
[0016596]7184.Argraves, W. S.; Dickerson, K.; Burgess, W. H.; Ruoslahti, E.: Fibulin, a novel protein that interacts with the fibronectin receptor-beta subunit cytoplasmic domain. Cell 58: 623-629, 1989.
[0016597]7185.Korenberg, J. R.; Chen, X.-N.; Tran, H.; Argraves, W. S.: Localization of the human gene for fibulin-1 (FBLN1) to chromosome band 22q13.3. Cytogenet. Cell Genet. 68: 192-193, 1995.
[0016598]7186.Mattei, M.-G.; Pan, T.-C.; Zhang, R.-Z.; Timpl, R.; Chu, M.-L. : The fibulin-1 gene (FBLN1) is located on human chromosome 22 and on mouse chromosome 15. Genomics 22: 437-438, 1994.
[0016599]7187.Karl, M.; Lamberts, S. W.; Koper, J. W.; Katz, D. A.; Huizenga, N. E.; Kino, T.; Haddad, B. R.; Hughes, M. R.; Chrousos, G. P.: Cushing's disease preceded by generalized glucocorticoid resistance: clinical consequences of a novel, dominant-negative glucocorticoid receptor mutation. Proc. Assoc. Am. Phys. 108: 296-307, 1996.
[0016600]7188.Pavlakis, G. N.; Hizuka, N.; Gorden, P.; Seeburg, P. H.; Hamber, D. H.: Expression of two human growth hormone genes in monkey cells infected by simian virus 40 recombinants. Proc. Nat. Acad. Sci. 78: 7398-7402, 1981.
[0016601]7189.Geijsen, N.; Uings, I. J.; Pals, C.; Armstrong, J.; McKinnon, M.; Raaijmakers, J. A. M.; Lammers, J.-W. J.; Koenderman, L.; Coffer, P. J.: Cytokine-specific transcriptional regulation through an IL-5R-alpha interacting protein. Science 293: 1136-1138, 2001.
[0016602]7190.Gough, N. M.; Rakar, S.: Localization of the IL-5 receptor gene to the distal half of murine chromosome 6 using recombinant inbred strains of mice. Genomics 12: 855-856, 1992.
[0016603]7191.Isobe, M.; Kumura, Y.; Murata, Y.; Takaki, S.; Tominaga, A.; Takatsu, K.; Ogita, Z.: Localization of the gene encoding the alpha subunit of human interleukin-5 receptor (IL5RA) to chromosome region 3p24-3p26. Genomics 14: 755-758, 1992.
[0016604]7192.Jacob, C. O.; Mykytyn, K.; Varcony, T.; Drabkin, H. A.: Mapping of the interleukin 5 receptor gene to human chromosome 3p25-p26 and to mouse chromosome 6 close to the Raf-1 locus with polymorphic tandem repeat sequences. Mammalian Genome 4: 435-439, 1993.
[0016605]7193.Sun, Z.; Yergeau, D. A.; Tuypens, T.; Tavernier, J.; Paul, C. C.; Baumann, M. A.: Tenen, D. G.; Ackerman, S. J.: Identification and characterization of a functional promoter region in the human eosinophil IL-5 receptor alpha subunit gene. J. Biol. Chem. 270: 1462-1471, 1995.
[0016606]7194.Tavernier, J.; Tuypens, T.; Plaetinck, G.; Verhee, A.; Fiers, W.; Devos, R.: Molecular basis of the membrane-anchored and two soluble isoforms of the human interleukin 5 receptor alpha subunit. Proc. Nat. Acad. Sci. 89: 7041-7045, 1992.
[0016607]7195.Zhang, J.; Kuvelkar, R.; Cheewatrakoolpong, B.; Williams, S.; Egan, R. W.; Billah, M. M.: Evidence for multiple promoters of the human IL-5 receptor alpha subunit gene: a novel 6-base pair element determines cell-specific promoter function. J. Immun. 15: 5412-5421, 1997.
[0016608]7196.Povey, S.; Morton, N. E.; Sherman, S. L.: Report of the committee on the genetic constitution of chromosomes 1 and 2. Cytogenet. Cell Genet. 40: 67-106, 1985.
[0016609]7197.Bird, A.; Taggart, M.; Frommer, M.; Miller, O. J.; Macleod, D. : A fraction of the mouse genome that is derived from islands of nonmethylated, CpG-rich DNA. Cell 40: 91-99, 1985.
[0016610]7198.Pikkarainen, T.; Kallunki, T.; Tryggvason, K.: Human laminin B2 chain: comparison of the complete amino acid sequence with the B1 chain reveals variability in sequence homology between different structural domains. J. Biol. Chem. 263: 6751-6758, 1988.
[0016611]7199.Sasaki, M.; Yamada, Y.: The laminin B2 chain has a multidomain structure homologous to the B1 chain. J. Biol. Chem. 262: 17111-17117, 1987.
[0016612]7200.Smyth, N.; Vatansever, H. S.; Murray, P.; Meyer, M.; Frie, C.; Paulsson, M.; Edgar, D.: Absence of basement membranes after targeting the LAMC1 gene results in embryonic lethality due to failure of endoderm differentiation. J. Cell Biol. 144: 151-160, 1999.
[0016613]7201.Aberdam, D.; Galliano, M.-F.; Vailly, J.; Pulkkinen, L.; Bonifas, J.; Christiano, A. M.; Tryggvason, K.; Uitto, J.; Epstein, E. H., Jr.; Ortonne, J.-P.; Meneguzzi, G.: Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma-2 subunit of nicein/kalinin (laminin-5). Nature Genet. 6: 299-304, 1994.
[0016614]7202.Aberdam, D.; Galliano, M. F.; Mattei, M.-G.; Pisani-Spadafora, A.; Ortonne, J. P.; Meneguzzi, G.: Assignment of mouse nicein genes to chromosomes 1 and 18. Mammalian Genome 5: 229-233, 1994.
[0016615]7203.Airenne, T.; Haakana, H.; Sainio, K.; Kallunki, T.; Kallunki, P.; Sariola, H.; Tryggvason, K.: Structure of the human laminin gamma-2 chain gene (LAMC2): alternative splicing with different tissue distribution of two transcripts. Genomics 32: 54-64, 1996.
[0016616]7204.Baudoin, C.; Miquel, C.; Gagnoux-Palacios, L.; Pulkkinen, L.; Christiano, A. M.; Uitto, J.; Tadini, G.; Ortonne, J.-P.; Meneguzzi, G.: A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosa. Hum. Molec. Genet. 3: 1909-1910, 1994.
[0016617]7205.Kallunki, P.; Sainio, K.; Eddy, R.; Byers, M.; Kallunki, T.; Sariola, H.; Beck, K.; Hirvonen, H.; Shows, T. B.; Tryggvason, K.: A truncated laminin chain homologous to the B2 chain: structure, spatial expression, and chromosomal assignment. J. Cell Biol. 119: 679-693, 1992.
[0016618]7206.Nakano, A.; Chao, S.-C.; Pulkkinen, L.; Murrell, D.; Bruckner-Tuderman, L.; Pfendner, E.; Uitto, J.: Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs non-Herlitz phenotypes. Hum. Genet. 110: 41-51, 2002.
[0016619]7207.Pulkkinen, L.; Christiano, A. M.; Airenne, T.; Haakana, H.; Tryggvason, K.; Uitto, J.: Mutations in the gamma-2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa. Nature Genet. 6: 293-298, 1994.
[0016620]7208.Takizawa, Y.; Pulkkinen, L.; Chao, S.-C.; Nakajima, H.; Nakano, Y.; Shimizu, H.; Uitto, J.: Complete paternal uniparental isodisomy of chromosome 1: a novel mechanism for Herlitz junctional epidermolysis bullosa. J. Invest. Derm. 206: 307-311, 2000.
[0016621]7209.Ashton, G. H. S.; Mellerio, J. E.; Dunnill, M. G. S.; Pulkkinen, L.; Christiano, A. M.; Uitto, J.; Eady, R. A. J.; McGrath, J. A.: A recurrent laminin 5 mutation in British patients with lethal (Herlitz) junctional epidermolysis bullosa: evidence for a mutational hotspot rather than propagation of an ancestral allele. Brit. J. Derm. 136: 674-677, 1997.
[0016622]7210.Benlian, P.; Foubert, L.; Gagne, E.; Bernard, L.; De Gennes, J. L.; Langlois, S.; Robinson, W.; Hayden, M.: Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency. Am. J. Hum. Genet. 59: 431-436, 1996.
[0016623]7211.Engel, E.: Uniparental disomy revisited: the first twelve years. Am. J. Med. Genet. 46: 670-674, 1993.
[0016624]7212.Floeth, M.; Bruckner-Tuderman, L.: Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes. Am. J. Hum. Genet. 65: 1530-1537, 1999.
[0016625]7213.Gache, Y.; Allegra, M.; Bodemer, C.; Pisani-Spadafora, A.; de Prost, Y.; Ortonne, J. P.; Meneguzzi, G.: Genetic bases of severe junctional epidermolysis bullosa presenting spontaneous amelioration with aging. Hum. Molec. Genet. 10: 2453-2461, 2001.
[0016626]7214.Jonkman, M. F.; Scheffer, H.; Stulp, R.; Pas, H. H.; Nijenhuis, M.; Heeres, K.; Owaribe, K.; Pulkkinen, L.; Uitto, J.: Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion. Cell 88: 543-551, 1997.
[0016627]7215.Kivirikko, S.; McGrath, J. A.; Pulkkinen, L.; Uitto, J.; Christiano, A. M.: Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa. Hum. Molec. Genet. 5: 231-237, 1996.
[0016628]7216.Ledbetter, D. H.; Engel, E.: Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis. Hum. Molec. Genet. 4: 1757-1764, 1995.
[0016629]7217.McGrath, J. A.; Pulkkinen, L.; Christiano, A. M.; Leigh, I. M.; Eady, R. A. J.; Uitto, J.: Altered laminin 5 expression due to mutations in the gene encoding the beta-3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa. J. Invest. Derm. 104: 467-474, 1995.
[0016630]7218.Mellerio, J. E.; Eady, R. A. J.; Atherton, D. J.; Lake, B. D.; McGrath, J. A.: E210K mutation in the gene encoding the beta-3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa. Brit. J. Derm. 139: 325-331, 1998.
[0016631]7219.Schoenmakers, E. P. P. M.; Wanschura, S.; Mols, R.; Bullerdiek, J.; Van den Berghe, H.; Van de Ven, W. J. M.: Recurrent rearrangements in the high mobility group protein gene, HMGI-C, in benign mesenchymal tumours. Nature Genet. 10: 436-444, 1995.
[0016632]7220.Turc-Carel, C.; Pietrzak, E.; Kakati, S.; Kinniburgh, A. J.; Sandberg, A. A.: The human int-1 gene is located at chromosome region 12q12-12q13 and is not rearranged in myxoid liposarcoma with t(12;16)(q13;p11). Oncogene Res. 1: 397-405, 1987.
[0016633]7221.Bochkov, V. N.; Kadl, A.; Huber, J.; Gruber, F.; Binder, B. R.; Leitinger, N.: Protective role of phospholipid oxidation products in endotoxin-induced tissue damage. Nature 419: 77-81, 2002.
[0016634]7222.Hassett, C.; Robinson, K. B.; Beck, N. B.; Omiecinski, C. J.: The human microsomal epoxide hydrolase gene (EPHX1): complete nucleotide sequence and structural characterization. Genomics 23: 433-442, 1994.
[0016635]7223.Jackson, M. R.; Craft, J. A.; Burchell, B.: Nucleotide and deduced amino acid sequence of human liver microsomal epoxide hydrolase. Nucleic Acids Res. 15: 7188 only, 1987.
[0016636]7224.Kutt, H.; Brennan, R.; Dehejia, H.; Verebely, K.: Diphenylhydantoin intoxication: a complication of isoniazid therapy. Am. Rev. Resp. Dis. 101: 377-383, 1970.
[0016637]7225.Kutt, H.; Verebely, K.; McDowell, F.: Inhibition of diphenylhydantoin metabolism in rat and in rat liver microsome by antitubercular drugs. Neurology 18: 706-710, 1968.
[0016638]7226.Kutt, H.; Wolk, M.; Scherman, R.; McDowell, F.: Insufficient parahydroxylation as a cause of diphenylhydantoin toxicity. Neurology 14: 542-548, 1964.
[0016639]7227.McGlynn, K. A.; Rosvold, E. A.; Lustbader, E. D.; Hu, Y.; Clapper, M. L.; Zhou, T.; Wild, C. P.; Xia, X.-L.; Baffoe-Bonnie, A.; Ofori-Adjei, D.; Chen, G.-C.; London, W. T.; Shen, F.-M.; Buetow, K. H.: Susceptibility to hepatocellular carcinoma is associated with genetic variation in the enzymatic detoxification of aflatoxin B1. Proc. Nat. Acad. Sci. 92: 2384-2387, 1995.
[0016640]7228.Nadeau, J. H.: Personal Communication. Bar Harbor, Me. 6/22/1988.
[0016641]7229.Phelan, M. C.; Pellock, J. M.; Nance, W. E.: Discordant expression of fetal hydantoin syndrome in a pair of dizygotic twins with different fathers. (Abstract) Am. J. Hum. Genet. 33: 67A only, 1981.
[0016642]7230.Sabry, M. A.; Farag, T. I.: Hand anomalies in fetal-hydantoin syndrome: from nail/phalangeal hypoplasia to unilateral acheiria. (Letter) Am. J. Med. Genet. 62: 410-412, 1996.
[0016643]7231.Skoda, R. C.; Demierre, A.; McBride, O. W.; Gonzalez, F. J.; Meyer, U. A.: Human microsomal xenobiotic epoxide hydrolase: complementary DNA sequence, complementary DNA-directed expression in COS-1 cells, and chromosomal localization. J. Biol. Chem. 263: 1549-1554, 1988.
[0016644]7232.Spielberg, S. P.; Gordon, G. B.; Blake, D. A.; Goldstein, D. A.; Herlong, H. F.: Predisposition to phenytoin hepatotoxicity assessed in vitro. New Eng. J. Med. 305: 722-727, 1981.
[0016645]7233.Strickler, S. M.; Dansky, L. V.; Miller, M. A.; Seni, M. H.; Andermann, E.; Spielberg, S. P.: Genetic predisposition to phenytoin-induced birth defects. Lancet II: 746-749, 1985.
[0016646]7234.Vasko, M. R.; Bell, R. D.; Daly, D. D.: Inheritance of diphenylhydantoin hypometabolism: a pharmacokinetic study of one family. (Abstract) Clin. Pharm. Therap. 21: 120 only, 1977.
[0016647]7235.Vasko, M. R.; Bell, R. D.; Daly, D. D.; Pippenger, C. E.: Inheritance of phenyltoin hypometabolism: a kinetic study of one family. Clin. Pharm. Therap. 27: 96-103, 1980.
[0016648]7236.Vermeij, P.; Ferrari, M. D.; Buruma, O. J. S.; Veenema, H.; de Wolff, F. A.: Inheritance of poor phenytoin parahydroxylation capacity in a Dutch family. Clin. Pharm. Therap. 44: 588-593, 1988.
[0016649]7237.Vesell, E. S.: Pharmacogenetics: multiple interactions between genes and environment as determinants of drug response. (Editorial) Am. J. Med. 66: 183-187, 1979.
[0016650]7238.Zusterzeel, P. L. M.; Peters, W. H. M.; Visser, W.; Hermsen, K. J. M.; Roelofs, H. M. J.; Steegers, E. A. P.: A polymorphism in the gene for microsomal epoxide hydrolase is associated with preeclampsia. J. Med. Genet. 38: 234-237, 2001.
[0016651]7239.Fonatsch, C.; Latza, U.; Durkop, H.; Rieder, H.; Stein, H.: Assignment of the human CD30 (Ki-1) gene to 1p36. Genomics 14: 825-826, 1992.
[0016652]7240.Ma, T.; Yang, B.; Umenishi, F.; Verkman, A. S.: Closely spaced tandem arrangement of AQP2, AQP5, and AQP6 genes in a 27-kilobase segment at chromosome locus 12q13. Genomics 43: 387-389, 1997.
[0016653]7241.Van Heyningen, V.; Bobrow, M.; Bodmer, W. F.; Gardiner, S. E.; Povey, S.; Hopkinson, D. A.: Chromosome assignment of some human enzyme loci: mitochondrial malate dehydrogenase to 7, mannosephosphate isomerase and pyruvate kinase to 15 and probably, esterase D to 13. Ann. Hum. Genet. 38: 295-303, 1975.
[0016654]7242.Larson, L. M.; Bruce, A. W.; Saumur, J. H.; Wasdahl, W. A.: Further evidence by gene dosage for the regional assignment of erythrocyte acid phosphatase (ACP1) and malate dehydrogenase (MDH1) loci on chromosome 2p. Clin. Genet. 22: 220-225, 1982.
[0016655]7243.Bell, G. I.; Gerhard, D. S.; Fong, N. M.; Sanchez-Pescador, R.; Rall, L. B.: Isolation of the human insulin-like growth factor genes: insulin-like growth factor II and insulin genes are contiguous. Proc. Nat. Acad. Sci. 82: 6450-6454, 1985.
[0016656]7244.Bell, G. I.; Merryweather, J. P.; Sanchez-Pescador, R.; Stempien, M. M.; Priestley, L.; Scott, J.; Rall, L. B.: Sequence of a cDNA clone encoding human preproinsulin-like growth factor II. Nature 310: 775-777, 1984.
[0016657]7245.Brissenden, J. E.; Ullrich, A.; Francke, U.: Chromosomal mapping of loci for insulinlike growth factors I and II and for epidermal growth factor in man. (Abstract) Am. J. Hum. Genet. 36: 133S, 1984.
[0016658]7246.Brown, K. W.; Villar, A. J.; Bickmore, W.; Clayton-Smith, J.; Catchpoole, D.; Maher, E. R.; Reik, W.: Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19-independent pathway. Hum. Molec. Genet. 5: 2027-2032, 1996.
[0016659]7247.Burgisser, D. M.; Roth, B. V.; Giger, R.; Luthi, C.; Weigl, S.; Zarn, J.; Humbel, R. E.: Mutants of human insulin-like growth factor II with altered affinities for the type 1 and type 2 insulin-like growth factor receptor. J. Biol. Chem. 266: 1029-1033, 1991.
[0016660]7248.Comings, D. E.: A general theory of carcinogenesis. Proc. Nat. Acad. Sci. 70: 3324-3328, 1973.
[0016661]7249.Constancia, M.; Dean, W.; Lopes, S.; Moore, T.; Kelsey, G.; Reik, W.: Deletion of a silencer element in Igf2 results in loss of imprinting independent of H19. Nature Genet. 26: 203-206, 2000.
[0016662]7250.Constancia, M.; Hemberger, M.; Hughes, J.; Dean, W.; Ferguson-Smith, A.; Fundele, R.; Stewart, F.; Kelsey, G.; Fowden, A.; Sibley, C.; Reik, W.: Placental-specific IGF-II is a major modulator of placental and fetal growth. Nature 417: 945-948, 2002.
[0016663]7251.Daughaday, W. H.; Emanuele, M. A.; Brooks, M. H.; Barbato, A. L.; Kapadia, M.; Rotwein, P.: Synthesis and secretion of insulin-like growth factor II by a leiomyosarcoma with associated hypoglycemia. New Eng. J. Med. 319: 1434-1440, 1988.
[0016664]7252.de Pagter-Holthuizen, P.; Hoppener, J. W. M.; Jansen, M.; Geurts van Kessel, A. H. M.; van Ommen, G. J. B.; Sussenbach, J. S.: Chromosomal localization and preliminary characterization of the human gene encoding insulin-like growth factor II. Hum. Genet. 69: 170-173, 1985.
[0016665]7253.Drummond, I. A.; Madden, S. L.; Rohwer-Nutter, P.; Bell, G. I.; Sukhatme, V. P.; Rauscher, F. J., III: Repression of the insulin-like growth factor II gene by the Wilms tumor suppressor WT1. Science 257: 674-678, 1992.
[0016666]7254.Dull, T. J.; Gray, A.; Hayflick, J. S.; Ullrich, A.: Insulin-like growth factor II precursor gene organization in relation to insulin gene family. Nature 310: 777-781, 1984.
[0016667]7255.Gaunt, T. R.; Cooper, J. A.; Miller, G. J.; Day, I. N. M.; O'Dell, S. D.: Positive associations between single nucleotide polymorphisms in the IGF2 gene region and body mass index in adult males. Hum. Molec. Genet. 10: 1491-1501, 2001.
[0016668]7256.Haselbacher, G. K.; Irminger, J.-C.; Zapf, J.; Ziegler, W. H.; Humbel, R. E.: Insulin-like growth factor II in human adrenal pheochromocytoma and Wilms tumors: expression at the mRNA and protein level. Proc. Nat. Acad. Sci. 84: 1104-1106, 1987.
[0016669]7257.Jansen, M.; van Schaik, F. M. A.; van Tol, H.; Van den Brande, J. L.; Sussenbach, J. S.: Nucleotide sequences of cDNAs encoding precursors of human insulin-like growth factor II (IGF-II) and an IGF-II variant. FEBS Lett. 179: 243-246, 1985.
[0016670]7258.Jeon, J.-T.; Carlborg, O.; Tornsten, A.; Giuffra, E.; Amarger, V.; Chardon, P.; Andersson-Eklund, L.; Andersson, K.; Hansson, I.; Lundstrom, K.; Andersson, L.: A paternally expressed QTL affecting skeletal and cardiac muscle mass in pigs maps to the IGF2 locus. (Letter) Nature Genet. 21: 157-158, 1999.
[0016671]7259.Le Stunff, C.; Fallin, D.; Bougneres, P.: Paternal transmission of the very common class I INS VNTR alleles predisposes to childhood obesity. Nature Genet. 29: 96-99, 2001.
[0016672]7260.Lighten, A. D.; Hardy, K.; Winston, R. M. L.; Moore, G. E.: IGF2 is parentally imprinted in human preimplantation embryos. (Letter) Nature Genet. 122-123, 1997.
[0016673]7261.Moore, T.; Constancia, M.; Zubair, M.; Bailleul, B.; Feil, R.; Sasaki, H.; Reik, W.: Multiple imprinted sense and antisense transcripts, differential methylation and tandem repeats in a putative imprinting control region upstream of mouse Igf2. Proc. Nat. Acad. Sci. 94: 12509-12514, 1997.
[0016674]7262.Henschen, A.; Kehl, M.; Deutsch, E.: Novel structure elucidation strategy for genetically abnormal fibrinogens with incomplete fibrinopeptide release as applied to fibrinogen Schwarzach. Hoppe Seylers Z. Physiol. Chem. 364: 1747-1751, 1983.
[0016675]7263.Henschen, A.; Southan, C.; Soria, J.; Soria, C.; Samama, M.: Structure abnormality of fibrinogen Metz and its relation to the clotting defect. (Abstract) Thromb. Haemost. 45: 103 only, 1981.
[0016676]7264.Higgins, D. L.; Shafer, J. A.: Fibrinogen Petoskey, a dysfibrinogenemia characterized by replacement of arg-A(alpha)16 by a histidyl residue: evidence for thrombin-catalyzed hydrolysis at a histidyl residue. J. Biol. Chem. 256: 12013-12017, 1981.
[0016677]7265.Humphries, S. E.; Imam, A. M. A.; Robbins, T. P.; Cook, M.; Carritt, B.; Ingle, C.; Williamson, R.: The identification of a DNA polymorphism of the alpha fibrinogen gene, and the regional assignment of the human fibrinogen genes to 4q26-qter. Hum. Genet. 68: 148-153, 1984.
[0016678]7266.Imperato, C.; Dettori, A. G.: Ipofibrinogenemia congenita con fibrinoastenia. Helv. Paediat. Acta 13: 380-399, 1958.
[0016679]7267.Jackson, D. P.; Beck, E. A.; Charache, P.: Congenital disorders of fibrinogen. Fed. Proc. 24: 816-821, 1965.
[0016680]7268.Jandrot-Perrus, M.; Aurousseau, M.-H.; Rabiet, M.-J.; Josso, F. : Fibrinogen Bondy: a new case of dysfibrinogenemia. Isolation of the abnormal fibrinogen molecules. Thromb. Res. 27: 659-670, 1982.
[0016681]7269.Kant, J. A.; Crabtree, G. R.: The rat fibrinogen genes: linkage of the A-alpha and gamma chain genes. J. Biol. Chem. 258: 4666-4667, 1983.
[0016682]7270.Kant, J. A.; Fornace, A. J., Jr.; Saxe, D.; Simon, M. I.; McBride, O. W.; Crabtree, G. R.: Evolution and organization of the fibrinogen locus on chromosome 4: gene duplication accompanied by transposition and inversion. Proc. Nat. Acad. Sci. 82: 2344-2348, 1985.
[0016683]7271.Kohn, P. H.; Cruz, A. C.; Kitchens, C. S.: Autosomal dominant hypofibrinogenemia associated with a balanced 7p/12q translocation in three generations of a family. (Abstract) Clin. Res. 31: 316A only, 1983.
[0016684]7272.Koopman, J.; Haverkate, F.; Grimbergen, J.; Egbring, R.; Lord, S. T.: Fibrinogen Marburg: a homozygous case of dysfibrinogenemia, lacking amino acids A-alpha 461-610 (lys461 AAAto-stop TAA). Blood 80: 1972-1979, 1992.
[0016685]7273.Koopman, J.; Haverkate, F.; Grimbergen, J.; Lord, S. T.; Mosesson, M. W.; DiOrio, J. P.; Siebenlist, K. S.; Legrand, C.; Soria, J.; Soria, C.; Caen, J. P.: Molecular basis for fibrinogen Dusart (A-alpha 554 arg-to-cys) and its association with abnormal fibrin polymerization and thrombophilia. J. Clin. Invest. 91: 1637-1643, 1993.
[0016686]7274.Kudryk, B.; Blomback, B.; Blomback, M.: Fibrinogen Detroit--an abnormal fibrinogen with nonfunctional NH(2)-terminal polymerization domain. Thromb. Res. 9: 25-36, 1976.
[0016687]7275.Lachmann, H. J.; Chir, B.; Booth, D. R.; Booth, S. E.; Bybee, A.; Gilbertson, J. A.; Gillmore, J. D.; Pepys, M. B.; Hawkins, P. N.: Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. New Eng. J. Med. 346: 1786-1791, 2002.
[0016688]7276.Lee, M. H.; Kaczmarek, E.; Chin, D. T.; Oda, A.; McIntosh, S.; Bauer, K. A.; Clyne, L. P.; McDonagh, J.: Fibrinogen Ledyard (A-alpha arg16-to-cys): biochemical and physiologic characterization. Blood 78: 1744-1752, 1991.
[0016689]7277.Maekawa, H.; Yamazumi, K.; Muramatsu, S.; Kaneko, M.; Hirata, H.; Takahashi, N.; Arocha-Pinango, C. L.; Rodriguez, S.; Nagy, H.; Perez-Requejo, J. L.; Matsuda, M.: Fibrinogen Lima: a homozygous dysfibrinogen with an A-alpha-arginine141-to-serine substitution associated with extra Nglycosylation at A-alpha-asparagine-139--impaired fibrin gel formation but normal fibrin-facilitated plasminogen activation catalyzed by tissue-type plasminogen activator. J. Clin. Invest. 90: 67-76, 1992.
[0016690]7278.Maekawa, H.; Yamazumi, K.; Muramatsu, S.; Kaneko, M.; Hirata, H.; Takahashi, N.; de Bosch, N. B.; Carvajal, Z.; Ojeda, A.; Arocha-Pinango, C. L.; Matsuda, M.: An A-alpha ser-434 to Nglycosylated asn substitution in a dysfibrinogen, fibrinogen Caracas II, characterized by impaired fibrin gel formation. J. Biol. Chem. 266: 11575-11581, 1991.
[0016691]7279.Mammen, E. F.; Prasad, A. S.; Barnhart, M. I.; Au, C. C.: Congenital dysfibrinogenemia: fibrinogen Detroit. J. Clin. Invest. 48: 235-249, 1969.
[0016692]7280.Marder, V. J.; Budzynski, A. Z.: Fibrinogen and its derivatives, hereditary and acquired abnormalities. Schweiz. Med. Wschr. 104: 1338-1342, 1974.
[0016693]7281.Marino, M. W.; Fuller, G. M.; Elder, F. F. B.: Chromosomal localization of human and rat A-alpha, B-beta, and gamma fibrinogen genes by in situ hybridization. Cytogenet. Cell Genet. 42: 36-41, 1986.
[0016694]7282.Martinez, J.; Holburn, R. R.; Shapiro, S.; Erslev, A. J.: A hereditary hypodysfibrinogenemia characterized by fibrinogen hypercatabolism. J. Clin. Invest. 53: 600-611, 1974.
[0016695]7283.McDonagh, R. P.; Carrell, N. A.; Roberts, H. R.; Blatt, P. M.; McDonagh, J.: Fibrinogen Chapel Hill: hypodysfibrinogenemia with a tertiary polymerization defect. Am. J. Hemat. 9: 23-38, 1980.
[0016696]7284.Menache, D.: Dysfibrinogenemie constitutionnelle et familiale. Proc. IX Cong. Europ. Soc. Hemat. 1255-1259, 1963.
[0016697]7285.Menache, D.: Constitutional and familial abnormal fibrinogen. Thromb. Diath. Haemorrh. 10 (suppl. 13): 173-185, 1964.
[0016698]7286.Miyashita, C.; Schwamborn, J.; von Blohn, G.; Wenzel, E.; Hellstern, P.: Preliminary report concerning two new cases of congenital dysfibrinogenemia (Homburg II and Homburg III).In: Henschen, A.; Hessel, B.; McDonagh, J.; Saldeen, T.: Fibrinogen--Structural Variants and Interactions. Berlin: Walter de Gruyter (pub.) 1985. Pp. 237-246.
[0016699]7287.Miyata, T.; Terukina, S.; Matsuda, M.; Kasamatsu, A.; Takeda, Y.; Murakami, T.; Iwanaga, S.: Fibrinogens Kawaguchi and Osaka: an amino acid substitution of A alpha arginine-16 to cysteine which forms an extra interchain disulfide bridge between the two A alpha chains. J. Biochem. 102: 93-101, 1987.
[0016700]7288.Morris, S.; Denninger, M. H.; Finlayson, J. S.; Menache, D.: Fibrinogen Lille: A (alpha) 7 asp-to-asn. (Abstract) Thromb. Haemost. 46: 104 only, 1981.
[0016701]7289.Mosesson, M. W.; Siebenlist, K. R.; Hainfeld, J. F.; Wall, J. S.; Soria, J.; Soria, C.; Caen, J. P.: The relationship between the fibrinogen D domain self-association/cross-linking site (gamma-XL) and the fibrinogen Dusart abnormality (A-alpha R554C-albumin): clues to thrombophilia in the 'Dusart syndrome.' J. Clin. Invest. 97: 2342-2350, 1996.
[0016702]7290.Neerman-Arbez, M.; Antonarakis, S. E.; Honsberger, A.; Morris, M. A.: The 11 kb FGA deletion responsible for congenital afibrinogenaemia is mediated by a short direct repeat in the fibrinogen gene cluster. Europ. J. Hum. Genet. 7: 897-902, 1999.
[0016703]7291.Klugbauer, S.; Rabes, H. M.: The transcription coactivator HTIF1 and a related protein are fused to the RET receptor tyrosine kinase in childhood papillary thyroid carcinomas. Oncogene 18: 4388-4393, 1999.
[0016704]7292.Lairmore, T. C.; Dou, S.; Howe, J. R.; Chi, D.; Carlson, K.; Veile, R.; Mishra, S. K.; Wells, S. A., Jr.; Donis-Keller, H.: A 1.5-megabase yeast artificial chromosome contig from human chromosome 10q11.2 connecting three genetic loci (RET, D10S94, and D10S102) closely linked to the MEN2A locus. Proc. Nat. Acad. Sci. 90: 492-496, 1993.
[0016705]7293.Lombardo, F.; Baudin, E.; Chiefari, E.; Arturi, F.; Bardet, S.; Caillou, B.; Conte, C.; Dallapiccola, B.; Giuffrida, D.; Bidart, J.-M.; Schlumberger, M.; Filetti, S.: Familial medullary thyroid carcinoma: clinical variability and low aggressiveness associated with RET mutation at codon 804. J. Clin. Endocr. Metab. 87: 1674-1680, 2002.
[0016706]7294.Lore, F.; Di Cairano, G.; Talidis, F.: Unilateral renal agenesis in a family with medullary thyroid carcinoma. (Letter) New Eng. J. Med. 342: 1218-1219, 2000.
[0016707]7295.Machens, A.; Gimm, O.; Hinze, R.; Hoppner, W.; Boehm, B. O.; Dralle, H.: Genotypephenotype correlations in hereditary medullary thyroid carcinoma: oncological features and biochemical properties. J. Clin. Endocr. Metab. 86: 1104-1109, 2001.
[0016708]7296.Mendelsohn, C.; et al; et al: Function of the retinoic acid receptors (RARs) during development (II). Multiple abnormalities at various stages of organogenesis in RAR double mutants. Development 120: 2749-2771, 1994.
[0016709]7297.Menko, F. H.; van der Luijt, R. B.; de Valk, I. A. J.; Toorians, A. W. F. T.; Sepers, J. M.; van Diest, P. J.; Lips, C. J. M.: Atypical MEN type 2B associated with two germline RET mutations on the same allele not involving codon 918. J. Clin. Endocr. Metab. 87: 393-397, 2002.
[0016710]7298.Mulligan, L. M.; Kwok, J. B. J.; Healey, C. S.; Elsdon, M. J.; Eng, C.; Gardner, E.; Love, D. R.; Mole, S. E.; Moore, J. K.; Papi, L.; Ponder, M. A.; Telenius, H.; Tunnacliffe, A.; Ponder, B. A. J. : Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature 363: 458-460, 1993.
[0016711]7299.Munnes, M.; Fanaei, S.; Schmitz, B.; Muiznieks, I.; Holschneider, A. M.; Doerfler, W.: Familial form of Hirschsprung disease: nucleotide sequence studies reveal point mutations in the RET proto-oncogene in two of six families but not in other candidate genes. Am. J. Med. Genet. 94: 19-27, 2000.
[0016712]7300.Nakata, T.; Kitamura, Y.; Shimizu, K.; Tanaka, S.; Fujimori, M.; Yokoyama, S.; Ito, K.; Emi, M.: Fusion of a novel gene, ELKS, to RET due to translocation t(10;12)(q11;p13) in a papillary thyroid carcinoma. Genes Chromosomes Cancer 25: 97-103, 1999.
[0016713]7301.Niccoli-Sire, P.; Murat, A.; Rohmer, V.; Franc, S.; Chabrier, G.; Baldet, L.; Maes, B.; Savagner, F.; Giraud, S.; Bezieau, S.; Kottler, M.-L.; Morange, S.; Conte-Devolx, B.: The French Calcitonin Tumors Study Group (GETC).: Familial medullary thyroid carcinoma with noncysteine RET mutations: phenotype-genotype relationship in a large series of patients. J. Clin. Endocr. Metab. 86: 3746-3753, 2001.
[0016714]7302.Pachnis, V.; Mankoo, B.; Costantini, F.: Expression of the c-ret proto-oncogene during mouse embryogenesis. Development 119: 1005-1017, 1993.
[0016715]7303.Pasini, B.; Hofstra, R. M. W.; Yin, L.; Bocciardi, R.; Santamaria, G.; Grootscholten, P. M.; Ceccherini, I.; Patrone, G.; Priolo, M.; Buys, C. H. C. M.; Romeo, G.: The physical map of the human RET proto-oncogene. Oncogene 11: 1737-1743, 1995.
[0016716]7304.Pelet, A.; Geneste, O.; Edery, P.; Pasini, A.; Chappuis, S.; Attie, T.; Munnich, A.; Lenoir, G.; Lyonnet, S.; Billaud, M.: Various mechanisms cause RET-mediated signaling defects in Hirschsprung's disease. J. Clin. Invest. 101: 1415-1423, 1998.
[0016717]7305.Pigny, P.; Bauters, C.; Wemeau, J.-L.; Houcke, M. L.; Crepin, M.; Caron, P.; Giraud, S.; Calender, A.; Buisine, M.-P.; Kerckaert, J.-P.; Porchet, N.: A novel 9-base pair duplication in RET exon 8 in familial medullary thyroid carcinoma. J. Clin. Endocr. Metab. 84: 1700-1704, 1999.
[0016718]7306.Pierotti, M. A.; Santoro, M.; Jenkins, R. B.; Sozzi, G.; Bongarzone, I.; Grieco, M.; Monzini, N.; Miozzo, M.; Herrmann, M. A.; Fusco, A.; Hay, I. D.; Della Porta, G.; Vecchio, G.: Characterization of an inversion on the long arm of chromosome 10 juxtaposing D10S170 and RET and creating the oncogenic sequence RET/PTC. Proc. Nat. Acad. Sci. 89: 1616-1620, 1992.
[0016719]7307.Rodrigues, G. A.; Park, M.: Dimerization mediated through a leucine zipper activates the oncogenic potential of the met receptor tyrosine kinase. Molec. Cell. Biol. 13: 6711-6722, 1993.
[0016720]7308.Romeo, G.; Ronchetto, P.; Luo, Y.; Barone, V.; Seri, M.; Ceccherini, I.; Pasini, B.; Bocciardi, R.; Lerone, M.; Kaariainen, H.; Martucciello, G.: Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. Nature 367: 377-378, 1994.
[0016721]7309.Salvatore, D.; Barone, M. V.; Salvatore, G.; Melillo, R. M.; Chiappetta, G.; Mineo, A.; Fenzi, G.; Vecchio, G.; Fusco, A.; Santoro, M.: Tyrosines 1015 and 1062 are in vivo autophosphorylation sites in Ret and Ret-derived oncoproteins. J. Clin. Endocr. Metab. 85: 3898-3907, 2000.
[0016722]7310.Robinson, M. F.; Cote, G. J.; Nunziata, V.; Brandi, M. L.; Ferrer, J. P.; Martins Bugalho, M. J. G.; Almeida Ruas, M. M.; Chik, C.; Colantuoni, V.; Gagel, R. F.: Mutation of a specific codon of the RET proto-oncogene in the multiple endocrine neoplasia type 2A/cutaneous lichen amyloidosis syndrome. (Abstract) Fifth International Workshop on Multiple Endocrine Neoplasia, Stockholm, Archipelago , 1994.
[0016723]7311.Boyer, S. H.: Human organ alkaline phosphatases: discrimination by several means including starch gel electrophoresis of antienzyme-enzyme supernatant fluids. Ann. N.Y. Acad. Sci. 103: 938-950, 1963.
[0016724]7312.Thompson, E. M.; Young, I. D.; Hall, C. M.; Pembrey, M. E.: Recurrence risks and prognosis in severe sporadic osteogenesis imperfecta. J. Med. Genet. 24: 390-405, 1987.
[0016725]7313.Deutman, A. F.; van Blommestein, J. D. A.; Henkes, H. E.; Waardenburg, P. J.; Solleveld-van Driest, E.: Butterfly-shaped pigment dystrophy of the fovea. Arch. Ophthal. 83: 558-569, 1970.
[0016726]7314.Okuda, T.; Cleveland, J. L.; Downing, J. R.: PCTAIRE-1 and PCTAIRE-3, two members of a novel cdc2/CDC28-related protein kinase gene family. Oncogene 7: 2249-2258, 1992.
[0016727]7315.Okuda, T.; Valentine, V. A.; Shapiro, D. N.; Downing, J. R.: Cloning of genomic loci and chromosomal localization of the human PCTAIRE-1 and -3 protein kinase genes. Genomics 21: 217-221, 1994.
[0016728]7316.Green, M. C.; Shultz, L. D.; Nedzi, L. A.: Abnormal nuclear morphology of leukocytes in the mouse mutant ichthyosis. Transplantation 20: 172-175, 1975.
[0016729]7317.Hoffmann, K.; Dreger, C. K.; Olins, A. L.; Olins, D. E.; Shultz, L. D.; Lucke, B.; Karl, H.; Kaps, R.; Muller, D.; Vaya, A.; Aznar, J.; Ware, R. E.; Cruz, N. S.; Lindner, T. H.; Herrmann, H.; Reis, A.; Sperling, K.: Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huet anomaly). Nature Genet. 31: 410-414, 2002.
[0016730]7318.Donald, L. J.: The genetics of placental alkaline phosphatase: a possible 'null' allele. Ann. Hum. Genet. 38: 7-18, 1974.
[0016731]7319.Donald, L. J.; Robson, E. B.: Rare variants of placental alkaline phosphatase. Ann. Hum. Genet. 37: 303-313, 1974.
[0016732]7320.Edwards, J. H.; Wingham, J.: Data on linkage between the locus determining placental alkaline phosphatase and other markers. Ann. Hum. Genet. 30: 233-237, 1967.
[0016733]7321.Garattini, E.; Margolis, J.; Heimer, E.; Felix, A.; Udenfriend, S.: Human placental alkaline phosphatase in liver and intestine. Proc. Nat. Acad. Sci. 82: 6080-6084, 1985.
[0016734]7322.Gogolin, K. J.; Slaughter, C. A.; Harris, H.: Electrophoresis of enzyme-monoclonal antibody complexes: studies of human placental alkaline phosphatase polymorphism. Proc. Nat. Acad. Sci. 78: 5061-5065, 1981.
[0016735]7323.Henthorn, P. S.; Knoll, B. J.; Raducha, M.; Rothblum, K. N.; Slaughter, C.; Weiss, M.; Lafferty, M. A.; Fischer, T.; Harris, H.: Products of two common alleles at the locus for human placental alkaline phosphatase differ by seven amino acids. Proc. Nat. Acad. Sci. 83: 5597-5601, 1986.
[0016736]7324.Kam, W.; Clauser, E.; Kim, Y. S.; Kan, Y. W.; Rutter, W. J.: Cloning, sequencing, and chromosomal localization of human term placental alkaline phosphatase cDNA. Proc. Nat. Acad. Sci. 82: 8715-8719, 1985.
[0016737]7325.Knoll, B. J.; Rothblum, K. N.; Longley, M.: Nucleotide sequence of the human placental alkaline phosphatase gene: evolution of the 5-prime flanking region by deletion/substitution. J. Biol. Chem. 263: 12020-12027, 1988.
[0016738]7326.Lucarelli, P.; Scacchi, R.; Corbo, R. M.; Benincasa, A.; Palmarino, R.: Human placental alkaline phosphatase electrophoretic alleles: quantitative studies. Am. J. Hum. Genet. 34: 331-336, 1982.
[0016739]7327.Martin, D.; Spurr, N. K.; Trowsdale, J.: RFLP of the human placental alkaline phosphatase gene (PLAP). Nucleic Acids Res. 15: 9104 only, 1987.
[0016740]7328.Martin, D.; Tucker, D. F.; Gorman, P.; Sheer, D.; Spurr, N. K.; Trowsdale, J.: The human placental alkaline phosphatase gene and related sequences map to chromosome 2 band q37. Ann. Hum. Genet. 51: 145-152, 1987.
[0016741]7329.Millan, J. L.; Beckman, G.; Jeppsson, A.; Stigbrand, T.: Genetic variants of placental alkaline phosphatase as detected by a monoclonal antibody. Hum. Genet. 60: 145-149, 1982.
[0016742]7330.Millan, J. L.; Stigbrand, T.: Antigenic determinants of human placental and testicular placental-like alkaline phosphatases as mapped by monoclonal antibodies. Europ. J. Biochem. 136: 1-7, 1983.
[0016743]7331.Palmarino, R.; Corbo, R. M.; Lucarelli, P.: Human placental alkaline phosphatase: analysis of genetically determined rare variants. Hum. Biol. 51: 341-352, 1979.
[0016744]7332.Raimondi, E.; Talarico, D.; Moro, L.; Rutter, W. J.; Della Valle, G.; De Carli, L.: Regional mapping of the human placental alkaline phosphatase gene (ALPP) to 2q37 by in situ hybridization. Cytogenet. Cell Genet. 47: 98-99, 1988.
[0016745]7333.Robinson, J. C.; Goldsmith, L. A.: Genetically determined variants of serum alkaline phosphatase: a review. Vox Sang. 13: 289-307, 1967.
[0016746]7334.Robson, E. B.; Harris, H.: Genetics of the alkaline phosphatase polymorphism of the human placenta. Nature 207: 1257-1259, 1965.
[0016747]7335.Slaughter, C. A.; Gogolin, K. J.; Coseo, M. C.; Meyer, L. J.; Lesko, J.; Harris, H.: Discrimination of human placental alkaline phosphatase allelic variants by monoclonal antibodies. Am. J. Hum. Genet. 35: 1-20, 1983.
[0016748]7336.Beckman, G.; Beckman, L.; Kivela, A.; Millan, J. L.; Sikstrom, C.: A new PstI restriction fragment length polymorphism (RFLP) of placental alkaline phosphatase: RFLP haplotypes and correlation with electrophoretic types. Hum. Hered. 41: 122-128, 1991.
[0016749]7337.Beckman, G.; Beckman, L.; Sikstrom, C.; Millan, J. L.: DNA polymorphism of alkaline phosphatase isozyme genes: linkage disequilibria between placental and germ-cell alkaline phosphatase alleles. Am. J. Hum. Genet. 51: 1066-1070, 1992.
[0016750]7338.Goldstein, D. J.; Gogolin, K. J.; Harris, H.: Possible new locus for alkaline phosphatase in humans. (Abstract) Sixth Int. Cong. Hum. Genet., Jerusalem , 1981.
[0016751]7339.Millan, J. L.; Eriksson, A.; Stigbrand, T.: A possible new locus of alkaline phosphatase expressed in human testis. Hum. Genet. 62: 293-295, 1982.
[0016752]7340.Millan, J. L.; Manes, T.: Seminoma-derived Nagao isozyme is encoded by a germ-cell alkaline phosphatase gene. Proc. Nat. Acad. Sci. 85: 3024-3028, 1988.
[0016753]7341.Abe, A.; Emi, N.; Tanimoto, M.; Terasaki, H.; Marunouchi, T.; Saito, H.: Fusion of the platelet-derived growth factor receptor beta to a novel gene CEV14 in acute myelogenous leukemia after clonal evolution. Blood 90: 4271-4277, 1997.
[0016754]7342.Buchberg, A. M.; Jenkins, N. A.; Copeland, N. G.: Localization of the murine macrophage colony-stimulating factor gene to chromosome 3 using interspecific backcross analysis. Genomics 5: 363-367, 1989.
[0016755]7343.Claesson-Welsh, L.; Eriksson, A.; Moren, A.; Severinsson, L.; Ek, B.; Ostman, A.; Betsholtz, C.; Heldin, C.-H.: cDNA cloning and expression of a human platelet-derived growth factor (PDGF) receptor specific for B-chain-containing PDGF molecules. Molec. Cell. Biol. 8: 3476-3486, 1988.
[0016756]7344.Escobedo, J. A.; Fried, V. A.; Daniel, T. O.; Williams, L. T.: Primary structure of the platelet-derived growth factor. (Abstract) Clin. Res. 34: 544A, 1986.
[0016757]7345.Gronwald, R. G. K.; Grant, F. J.; Haldeman, B. A.; Hart, C. E.; O'Hara, P. J.; Hagen, F. S.; Ross, R.; Bowen-Pope, D. F.; Murray, M. J.: Cloning and expression of a cDNA coding for the human platelet-derived growth factor receptor: evidence for more than one receptor class. Proc. Nat. Acad. Sci. 85: 3435-3439, 1988.
[0016758]7346.Klinghoffer, R. A.; Mueting-Nelsen, P. F.; Faerman, A.; Shani, M.; Soriano, P.: The two PDGF receptors maintain conserved signaling in vivo despite divergent embryological functions. Molec. Cell 7: 343-354, 2001.
[0016759]7347.Kulkarni, S.; Heath, C.; Parker, S.; Chase, A.; Iqbal, S.; Pocock, C. F.; Kaeda, J.; Cwynarski, K.; Goldman, J. M.; Cross, N. C. P.: Fusion of H4/D10S170 to the platelet-derived growth factor receptor beta in BCR-ABL-negative myeloproliferative disorders with a t(5;10)(q33;q21). Cancer Res. 60: 3592-3598, 2000.
[0016760]7348.Leal, F.; Williams, L. T.; Robbins, K. C.; Aaronson, S. A.: Evidence that the v-sis gene product transforms by interaction with the receptor for platelet-derived growth factor. Science 230: 327-330, 1985.
[0016761]7349.Magnusson, M. K.; Meade, K. E.; Brown, K. E., Arthur, D. C.; Krueger, L. A.; Barrett, A. J.; Dunbar, C. E.: Rabaptin-5 is a novel fusion partner to platelet-derived growth factor beta receptor in chronic myelomonocytic leukemia. Blood 98: 2518-2525, 2001.
[0016762]7350.Matsui, T.; Heidaran, M.; Miki, T.; Popescu, N.; La Rochelle, W.; Kraus, M.; Pierce, J.; Aaronson, S.: Isolation of a novel receptor cDNA establishes the existence of two PDGF receptor genes. Science 243: 800-804, 1989.
[0016763]7351.Ross, T. S.; Bernard, O. A.; Berger, R.; Gilliland, D. G.: Fusion of Huntingtin interacting protein 1 to platelet-derived growth factor-beta receptor (PDGF-beta-R) in chronic myelomonocytic leukemia with t(5;7)(q33;q11.2). Blood 91: 4419-4426, 1998.
[0016764]7352.Steer, E. J.; Cross, N. C. P.: Myeloproliferative disorders with translocations of chromosome 5q31-35: role of the platelet-derived growth factor receptor beta. Acta Haemat. 107: 113-122, 2002.
[0016765]7353.Treacher Collins Syndrome Collaborative Group: Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. Nature Genet. 12: 130-136, 1996.
[0016766]7354.Yarden, Y.; Escobedo, J. A.; Kuang, W.-J.; Yang-Feng, T. L.; Daniel, T. O.; Tremble, P. M.; Chen, E. Y.; Ando, M. E.; Harkins, R. N.; Francke, U.; Fried, V. A.; Ullrich, A.; Williams, L. T.: Structure of the receptor for platelet-derived growth factor helps define a family of closely related growth factor receptors. Nature 323: 226-232, 1986.
[0016767]7355.Allcock, R. J. N.; Williams, J. H.; Price, P.: The central MHC gene, BAT1, may encode a protein that down-regulates cytokine production. Genes Cells 6: 487-494, 2001.
[0016768]7356.Nunes, M.; Peelman, L.; Vaiman, M.; Bourgeaux, N.; Chardon, P. : Characterization of six new loci within the swine major histocompatibility complex class III region. Mammalian Genome 5: 616-622, 1994.
[0016769]7357.Peelman, L. J.; Chardon, P.; Nunes, M.; Renard, C.; Geffrotin, C.; Vaiman, M.; Van Zeveren, A.; Coppieters, W.; van de Weghe, A.; Bouquet, Y.; Choy, W. W.; Strominger, J. L.; Spies, T.: The BAT1 gene in the MHC encodes an evolutionarily conserved putative nuclear RNA helicase of the DEAD family. Genomics 26: 210-218, 1995.
[0016770]7358.Spies, T.; Blanck, G.; Bresnahan, M.; Sands, J.; Strominger, J. L.: A new cluster of genes within the human major histocompatibility complex. Science 243: 214-217, 1989.
[0016771]7359.Spies, T.; Bresnahan, M.; Strominger, J. L.: Human major histocompatibility complex contains a minimum of 19 genes between the complement cluster and HLA-B. Proc. Nat. Acad. Sci. 86: 8955-8958, 1989.
[0016772]7360.Colosimo, A.; Calabrese, G.; Gennarelli, M.; Ruzzo, A. M.; Sangiuolo, F.; Magnani, M.; Palka, G.; Novelli, G.; Dallapiccola, B.: Assignment of the hexokinase type 3 gene (HK3) to human chromosome band 5q35.3 by somatic cell hybrids and in situ hybridization. Cytogenet. Cell Genet. 74: 187-188, 1996.
[0016773]7361.Furuta, H.; Nishi, S.; Le Beau, M. M.; Fernald, A. A.; Yano, H.; Bell, G. I.: Sequence of human hexokinase III cDNA and assignment of the human hexokinase III gene (HK3) to chromosome band 5q35.2 by fluorescence in situ hybridization. Genomics 36: 206-209, 1996.
[0016774]7362.Harris, H.; Hopkinson, D. A.: Average heterozygosity per locus in man: an estimate based on the incidence of enzyme polymorphism. Ann. Hum. Genet. 36: 9-20, 1972.
[0016775]7363.Hopkinson, D. A.; Edwards, Y. H.; Harris, H.: The distribution of subunit numbers and subunit sizes of enzymes: a study of the products of 100 gene loci. Ann. Hum. Genet. 39: 383-411, 1976.
[0016776]7364.Povey, S.; Corney, G.; Harris, H.: Genetically determined polymorphism in a form of hexokinase, HK III, found in human leukocytes. Ann. Hum. Genet. 38: 407-415, 1975.
[0016777]7365.Altay, C.; Alper, C. A.; Nathan, D. G.: Normal and variant isoenzymes of human blood cell hexokinase and the isoenzyme pattern in hemolytic anemia. Blood 36: 219-227, 1970.
[0016778]7366.Andreoni, F.; Ruzzo, A.; Magnani, M.: Structure of the 5-prime region of the human hexokinase type I (HKI) gene and identification of an additional testis-specific HKI mRNA. Biochim. Biophys. Acta 1493: 19-26, 2000.
[0016779]7367.Bianchi, M.; Magnani, M.: Hexokinase mutations that produce nonspherocytic hemolytic anemia. Blood Cells Molecules Dis. 21: 2-8, 1995.
[0016780]7368.Chern, C. J.: Localization of the structural genes for hexokinase-1 and inorganic pyrophosphatase on region (pter-q24) of human chromosome 10. Cytogenet. Cell Genet. 17: 338-342, 1976.
[0016781]7369.Dallapiccola, B.; Lungarotti, M. S.; Magnani, M.; Dacha, M.: Evidence of gene dosage effect for HK1 in the red cells of a patient with trisomy 10pter leads to p13. Ann. Genet. 24: 45-47, 1981.
[0016782]7370.Dallapiccola, B.; Novelli, G.; Micara, G.; Delaroche, I.; Moric-Petrovic, S.; Magnani, M.: Regional mapping of hexokinase-1 within the short arm of chromosome 10. Hum. Hered. 34: 156-160, 1984.
[0016783]7371.Daniele, A.; Altruda, F.; Ferrone, M.; Silengo, L.; Romeo, G.; Archidiacono, N.; Rocchi, M.: Mapping of human hexokinase 1 gene to 10q11-qter. Hum. Hered. 42: 107-110, 1992.
[0016784]7372.Gelb, B. D.; Worley, K. C.; Griffin, L. D.; Adams, V.; Chinault, A. C.; McCabe, E. R. B.: Characterization of human genomic artificial chromosome inserts containing hexokinase 1 coding information on chromosome 10. Biochem. Med. Metab. Biol. 47: 267-269, 1992.
[0016785]7373.Gitelman, B. J.; Simpson, N. E.: Regional mapping of the locus for hexokinase-1 (HK1) to 10p11-q23 by gene dosage in human fibroblasts. Hum. Genet. 60: 227-229, 1982.
[0016786]7374.Griffin, L. D.; Gelb, B. D.; Wheeler, D. A.; Davison, D.; Adams, V.; McCabe, E. R. B.: Mammalian hexokinase 1: evolutionary conservation and structure to function analysis. Genomics 11: 1014-1024, 1991.
[0016787]7375.Mori, C.; Welch, J. E.; Fulcher, K. D.; O'Brien, D. A.; Eddy, E. M.: Unique hexokinase messenger ribonucleic acids lacking the porin-binding domain are developmentally expressed in mouse spermatogenic cells. Biol. Reprod. 49: 191-203, 1993.
[0016788]7376.Ollendorff, V.; Szepetowski, P.; Mattei, M.-G.; Gaudray, P.; Birnbaum, D.: New gene in the homologous human 11q13-q14 and mouse 7F chromosomal regions. Mammalian Genome 2: 195-200, 1992.
[0016789]7377.Guilford, P.; Hopkins, J.; Harraway, J.; McLeod, M.; McLeod, N.; Harawira, P.; Taite, H.; Scoular, R.; Miller, A.; Reeve, A. E.: E-cadherin germline mutations in familial gastric cancer. Nature 392: 402-405, 1998.
[0016790]7378.Huntsman, D. G.; Carneiro, F.; Lewis, F. R.; MacLeod, P. M.; Hayashi, A.; Monaghan, K. G.; Maung, R.; Seruca, R.; Jackson, C. E.; Caldas, C.: Early gastric cancer in young, asymptomatic carriers of germ-line E-cadherin mutations. New Eng. J. Med. 344: 1904-1909, 2001.
[0016791]7379.Karl, M.; Lamberts, S. W. J.; Detera-Wadleigh, S. D.; Encio, I. J.; Stratakis, C. A.; Hurley, D. M.; Accili, D.; Chrousos, G. P.: Familial glucocorticoid resistance caused by a splice site deletion in the human glucocorticoid receptor gene. J. Clin. Endocr. Metab. 76: 683-689, 1993.
[0016792]7380.Kino, T.; Stauber, R. H.; Resau, J. H.; Pavlakis, G. N.; Chrousos, G. P.: Pathologic human GR mutant has a transdominant negative effect on the wild-type GR by inhibiting its translocation into the nucleus: importance of the ligand-binding domain for intracellular GR trafficking. J. Clin. Endocr. Metab. 86: 5600-5608, 2001.
[0016793]7381.Kontula, K.; Pelkonen, R.; Andersson, L.; Sivula, A.: Glucocorticoid receptors in adrenocorticoid disorders. J. Clin. Endocr. Metab. 51: 654-657, 1980.
[0016794]7382.Koper, J. W.; Stolk, R. P.; de Lange, P.; Huizenga, N. A.; Molijn, G. J.; Pols, H. A.; Grobbee, D. E.; Karl, M.; de Jong, F. H.; Brinkmann, A. O.; Lamberts, S. W.: Lack of association between five polymorphisms in the human glucocorticoid receptor gene and glucocorticoid resistance. Hum. Genet. 99: 663-668, 1997.
[0016795]7383.Lamberts, S. W. J.; Poldermans, D.; Zweens, M.; de Jong, F. H. : Familial cortisol resistance: differential diagnostic and therapeutic aspects. J. Clin. Endocr. Metab. 63: 1328-1333, 1986.
[0016796]7384.Lind, U.; Carlstedt-Duke, J.; Gustafsson, J.-A.; Wright, A. P. H.: Identification of single amino acid substitutions of cys-736 that affect the steroid-binding affinity and specificity of the glucocorticoid receptor using phenotypic screening in yeast. Molec. Endocr. 10: 1358-1370, 1996.
[0016797]7385.Lipsett, M. B.; Chrousos, G. P.; Tomita, M.; Brandon, D. D.; Loriaux, D. L.: The defective glucocorticoid receptor in man and nonhuman primates. Recent Prog. Horm. Res. 41: 199-247, 1985.
[0016798]7386.Lipsett, M. B.; Tomita, M.; Brandon, D. D.; De Vroede, M. M.; Loriaux, D. L.; Chrousos, G. P.: Cortisol resistance in man.In: Chrousos, G. P.; Loriaux, D. L.; Lipsett, M. B.: Steroid Hormone Resistance: Mechanisms and Clinical Aspects. New York: Plenum Press (pub.) 1986. Pp. 97-109.
[0016799]7387.McNally, J. G.; Muller, W. G.; Walker, D.; Wolford, R.; Hager, G. L.: The glucocorticoid receptor: rapid exchange with regulatory sites in living cells. Science 287: 1262-1265, 2000.
[0016800]7388.Montkowski, A.; Barden, N.; Wotjak, C.; Stec, I.; Ganster, J.; Meaney, M.; Engelmann, M.; Reul, J. M. H. M.; Landgraf, R.; Holsboer, F.: Long-term antidepressant treatment reduces behavioural deficits in transgenic mice with impaired glucocorticoid receptor function. J. Neuroendocrinology 7: 841-845, 1995.
[0016801]7389.Muller, M.; Renkawitz, R.: Review: the glucocorticoid receptor. Biochim. Biophys. Acta 1088: 171-182, 1991.
[0016802]7390.Nawata, H.; Sekiya, K.; Higuchi, K.; Kato, K.-I.; Ibayashi, H. : Decreased deoxyribonucleic acid binding of glucocorticoid-receptor complex in cultured skin fibroblasts from a patient with the glucocorticoid resistance syndrome. J. Clin. Endocr. Metab. 65: 219-226, 1987.
[0016803]7391.Oakley, R. H.; Sar, M.; Cidlowski, J. A.: The human glucocorticoid receptor isoform: expression, biochemical properties, and putative function. J. Biol. Chem. 271: 9550-9559, 1996.
[0016804]7392.Pepin, M.-C.; Pothier, F.; Barden, N.: Impaired type II glucocorticoid-receptor function in mice bearing antisense RNA transgene. Nature 355: 725-728, 1992.
[0016805]7393.Ray, D. W.; Davis, J. R. E.; White, A.; Clark, A. J. L.: Glucocorticoid receptor structure and function in glucocorticoid-resistant small cell lung carcinoma cells. Cancer Res. 56: 3276-3280, 1996.
[0016806]7394.Reichardt, H. M.; Kaestner, K. H.; Tuckermann, J.; Kretz, O.; Wessely, O.; Bock, R.; Gass, P.; Schmid, W.; Herrlich, P.; Angel, P.; Schutz, G.: DNA binding of the glucocorticoid receptor is not essential for survival. Cell 93: 531-541, 1998.
[0016807]7395.Rivers, C.; Levy, A.; Hancock, J.; Lightman, S.; Norman, M.: Insertion of an amino acid in the DNA-binding domain of the glucocorticoid receptor as a result of alternative splicing. J. Clin. Endocr. Metab. 84: 4283-4286, 1999.
[0016808]7396.Roux, S.; Terouanne, B.; Balaguer, P.; Jausons-Loffreda, N.; Pons, M.; Chambon, P.; Gronemeyer, H.; Nicolas, J.-C.: Mutation of isoleucine 747 by a threonine alters the ligand responsiveness of the human glucocorticoid receptor. Molec. Endocr. 10: 1214-1226, 1996.
[0016809]7397.Strickland, I.; Kisich, K.; Hauk, P. J.; Vottero, A.; Chrousos, G. P.; Klemm, D. J.; Leung, D. Y. M.: High constitutive glucocorticoid receptor beta in human neutrophils enables them to reduce their spontaneous rate of cell death in response to corticosteroids. J. Exp. Med. 193: 585-593, 2001.
[0016810]7398.Theriault, A.; Boyd, E.; Harrap, S. B.; Hollenberg, S. M.; Connor, J. M.: Regional chromosomal assignment of the human glucocorticoid receptor gene to 5q31. Hum. Genet. 83: 289-291, 1989.
[0016811]7399.Theriault, A.; Harrap, S. B.; Hollenberg, S. M.; Boyd, E.; Connor, J. M.: Regional chromosomal assignment of the glucocorticoid receptor gene to 5q31. (Abstract) Cytogenet. Cell Genet. 51: 1089, 1989.
[0016812]7400.Tronche, F.; Kellendonk, C.; Kretz, O.; Gass, P.; Anlag, K.; Orban, P. C.; Bock, R.; Klein, R.; Schutz, G.: Disruption of the glucocorticoid receptor gene in the nervous system results in reduced anxiety. Nature Genet. 23: 99-103, 1999.
[0016813]7401.Vingerhoeds, A. C. M.; Thijssen, J. H. H.; Schwarz, F.: Spontaneous hypercortisolism without Cushing's syndrome. J. Clin. Endocr. Metab. 43: 1128-1133, 1976.
[0016814]7402.Webster, J. C.; Oakley, R. H.; Jewell, C. M.; Cidlowski, J. A. : Proinflammatory cytokines regulate human glucocorticoid receptor gene expression and lead to the accumulation of the dominant negative beta-isoform: a mechanism for the generation of glucocorticoid resistance. Proc. Nat. Acad. Sci. 98: 6865-6870, 2001.
[0016815]7403.Weinberger, C.; Evans, R.; Rosenfeld, M. G.; Hollenberg, S. M.; Skarecky, D.; Wasmuth, J. J.: Assignment of the human gene encoding the glucocorticoid receptor to the q11-q13 region on chromosome 5. (Abstract) Cytogenet. Cell Genet. 40: 776, 1985.
[0016816]7404.Weinberger, C.; Giguere, V.; Hollenberg, S. M.; Thompson, C.; Arriza, J.; Evans, R. M.: Human steroid receptors and erb-A gene products form a superfamily of enhancer-binding proteins. Clin. Physiol. Biochem. 5: 179-189, 1987.
[0016817]7405.Weinberger, C.; Hollenberg, S. M.; Ong, E. S.; Harmon, J. M.; Brower, S. T.; Cidlowski, J.; Thompson, E. B.; Rosenfeld, M. G.; Evans, R. M.: Identification of human glucocorticoid receptor complementary DNA clones by epitope selection. Science 228: 740-742, 1985.
[0016818]7406.Seeburg, P. H.: The human growth hormone gene family: nucleotide sequences show recent divergence and predict a new polypeptide hormone. DNA 1: 239-249, 1982.
[0016819]7407.Abdul-Latif, H.; Leiberman, E.; Brown, M. R.; Carmi, R.; Parks, J. S.: Growth hormone deficiency type IB caused by cryptic splicing of the GH-1 gene. J. Pediat. Endocr. Metab. 13: 21-28, 2000.
[0016820]7408.Akinci, A.; Kanaka, C.; Eble, A.; Akar, N.; Vidinlisan, S.; Mullis, P. E.: Isolated growth hormone (GH) deficiency type IA associated with a 45-kilobase gene deletion within the human GH gene cluster. J. Clin. Endocr. Metab. 75: 437-441, 1992.
[0016821]7409.Archer, J. S.; Kennan, W. S.; Gould, M. N.; Bremel, R. D.: Human growth hormone (hGH) secretion in milk of goats after direct transfer of the hGH gene into the mammary gland by using replication-defective retrovirus vectors. Proc. Nat. Acad. Sci. 91: 6840-6844, 1994.
[0016822]7410.Baum, H. B. A.; Katznelson, L.; Sherman, J. C.; Biller, B. M. K.; Hayden, D. L.; Schoenfeld, D. A.; Cannistraro, K. E.; Klibanski, A. : Effects of physiological growth hormone (GH) therapy on cognition and quality of life in patients with adult-onset GH deficiency. J. Clin. Endocr. Metab. 83: 3184-3189, 1998.
[0016823]7411.Baxter, J. D.: Personal Communication. San Francisco, Calif. 4/1981.
[0016824]7412.Baxter, J. D.; Seeburg, P. H.; Shine, J.; Martial, J. A.; Goodman, H. M.: The gene for growth hormone (GH): DNA sequence, expression, regulation. (Abstract) Clin. Res. 25: 461A, 1977.
[0016825]7413.Behncken, S. N.; Rowlinson, S. W.; Rowland, J. E.; Conway-Campbell, B. L.; Monks, T. A.; Waters, M. J.: Aspartate 171 is the major primate-specific determinant of human growth hormone. J. Biol. Chem. 272: 27077-27083, 1997.
[0016826]7414.Bianda, T.; Glatz, Y.; Bouillon, R.; Froesch, E. R.; Schmid, C. : Effects of short-term insulin-like growth factor-I (IGF-I) or growth hormone (GH) treatment on bone metabolism and on production of 1,25-dihydroxycholecalciferol in GH-deficient adults. J. Clin. Endocr. Metab. 98: 81-87, 1998.
[0016827]7415.Binder, G.; Brown, M.; Parks, J. S.: Mechanisms responsible for dominant expression of human growth hormone gene mutations. J. Clin. Endocr. Metab. 81: 4047-4050, 1996.
[0016828]7416.Binder, G.; Ranke, M. B.: Screening for growth hormone (GH) gene splice-site mutations in sporadic cases with severe isolated GH deficiency using ectopic transcript analysis. J. Clin. Endocr. Metab. 80: 1247-1252, 1995.
[0016829]7417.Blethen, S. L.; Baptista, J.; Kuntze, J.; Foley, T.; LaFranchi, S.; Johanson, A.: Adult height in growth hormone (GH)-deficient children treated with biosynthetic GH. J. Clin. Endocr. Metab. 82: 418-420, 1997.
[0016830]7418.Boguszewski, C. L.; Jansson, C.; Boguszewski, M. C. S.; Rosberg, S.; Carlsson, B.; Albertsson-Wikland, K.; Carlsson, L. M. S.: Increased proportion of circulating non-22-kilodalton growth hormone isoforms in short children: a possible mechanism for growth failure. J. Clin. Endocr. Metab. 82: 2944-2949, 1997.
[0016831]7419.Boguszewski, C. L.; Johannsson, G.; Bengtsson, B.-A.; Johansson, A.; Carlsson, B.; Carlsson, L. M. S.: Circulating non-22-kilodalton growth hormone isoforms in acromegalic men before and after transsphenoidal surgery. J. Clin. Endocr. Metab. 82: 1516-1521, 1997.
[0016832]7420.Braga, S.; Phillips, J. A., III; Joss, E.; Schwarz, H.; Zuppinger, K.: Familial growth hormone deficiency resulting from a 7.6 kb deletion within the growth hormone gene cluster. Am. J. Med. Genet. 25: 443-452, 1986.
[0016833]7421.Burman, P.; Johansson, A. G.; Siegbahn, A.; Vessby, B.; Karlsson, F. A.: Growth hormone (GH)-deficient men are more responsive to GH replacement therapy than women. J. Clin. Endocr. Metab. 82: 550-555, 1997.
[0016834]7422.Cassorla, F.; Mericq, V.; Eggers, M.; Avila, A.; Garcia, C.; Fuentes, A.; Rose, S. R.; Cutler, G. B., Jr.: Effects of luteinizing hormone-releasing hormone analog-induced pubertal delay in growth hormone (GH)-deficient children treated with GH: preliminary results. J. Clin. Endocr. Metab. 82: 3989-3992, 1997.
[0016835]7423.Chakravarti, A.; Phillips, J. A., III; Mellits, K. H.; Buetow, K. H.; Seeburg, P. H.: Patterns of polymorphism and linkage disequilibrium suggest independent origins of the human growth hormone gene cluster. Proc. Nat. Acad. Sci. 81: 6085-6089, 1984.
[0016836]7424.Chapman, I. M.; Pescovitz, O. H.; Murphy, G.; Treep, T.; Cerchio, K. A.; Krupa, D.; Gertz, B.; Polvino, W. J.; Skiles, E. H.; Pezzoli, S. S.; Thorner, M. O.: Oral administration of growth hormone (GH) releasing peptide-mimetic MK-677 stimulates the GH/insulin-like growth factor-I axis in selected GH-deficient adults. J. Clin. Endocr. Metab. 82: 3455-3463, 1997.
[0016837]7425.Chen, E.: Personal Communication. San Francisco, Calif. 10/25/1988.
[0016838]7426.Chen, S.; Leger, J.; Garel, C.; Hassan, M.; Czernichow, P.: Growth hormone deficiency with ectopic neurohypophysis: anatomical variations and relationship between the visibility of the pituitary stalk asserted by magnetic resonance imaging and anterior pituitary function. J. Clin. Endocr. Metab. 84: 2408-2413, 1999.
[0016839]7427.Cogan, J. D.; Phillips, J. A., III; Sakati, N.; Frisch, H.; Schober, E.; Milner, R. D. G.: Heterogeneous growth hormone (GH) gene mutations in familial GH deficiency. J. Clin. Endocr. Metab. 76: 1224-1228, 1993.
[0016840]7428.Cogan, J. D.; Prince, M. A.; Lekhakula, S.; Bundey, S.; Futrakul, A.; McCarthy, E. M. S.; Phillips, J. A., III: A novel mechanism of aberrant pre-mRNA splicing in humans. Hum. Molec. Genet. 6: 909-912, 1997.
[0016841]7429.Cogan, J. D.; Ramel, B.; Lehto, M.; Phillips, J., III; Prince, M.; Blizzard, R. M.; de Ravel, T. J. L.; Brammert, M.; Groop, L.: A recurring dominant negative mutation causes autosomal dominant growth hormone deficiency: a clinical research center study. J. Clin. Endocr. Metab. 80: 3591-3595, 1995.
[0016842]7430.Colao, A.; Cuocolo, A.; Di Somma, C.; Cerbone, G.; Morte, A. M. D.; Nicolai, E.; Lucci, R.; Salvatore, M.; Lombardi, G.: Impaired cardiac performance in elderly patients with growth hormone deficiency. J. Clin. Endocr. Metab. 84: 3950-3955, 1999.
[0016843]7431.Schneider, P. M.; Witzel-Schlomp, K.; Rittner, C.; Zhang, L.: The endogenous retroviral insertion in the human complement C4 gene modulates the expression of homologous genes by antisense inhibition. Immunogenetics 53: 1-9, 2001.
[0016844]7432.Suto, Y.; Tokunaga, K.; Watanabe, Y.; Hirai, M.: Visual demonstration of the organization of the human complement C4 and 21-hydroxylase genes by high-resolution fluorescence in situ hybridization. Genomics 33: 321-324, 1996.
[0016845]7433.Teisberg, P.; Akesson, I.; Olaisen, B.; Gedde-Dahl, T., Jr.; Thorsby, E.: Genetic polymorphism of C4 in man and localization of a structural C4 locus to the HLA gene complex of chromosome 6. Nature 264: 253-254, 1976.
[0016846]7434.Boerkoel, C. F.; Takashima, H.; Stankiewicz, P.; Garcia, C. A.; Leber, S. M.; Rhee-Morris, L.; Lupski, J. R.: Periaxin mutations cause recessive Dejerine-Sottas neuropathy. Am. J. Hum. Genet. 68: 325-333, 2001. Note: Erratum: Am. J. Hum. Genet. 68: 557 only, 2001.
[0016847]7435.Pischel, K. D.; Marlin, S. D.; Springer, T. A.; Woods, V. L., Jr.; Bluestein, H. G.: Polymorphism of lymphocyte function-associated antigen-1 demonstrated by a lupus patient's alloantiserum. J. Clin. Invest. 79: 1607-1614, 1987.
[0016848]7436.Gantz, I.; Miwa, H.; Konda, Y.; Shimoto, Y.; Tashiro, T.; Watson, S. J.; DelValle, J.; Yamada, T.: Molecular cloning, expression, and gene localization of a fourth melanocortin receptor. J. Biol. Chem. 268: 15174-15179, 1993.
[0016849]7437.Akey, J. M.; Wang, H.; Xiong, M.; Wu, H.; Liu, W.; Shriver, M. D.; Jin, L.: Interaction between the melanocortin-1 receptor and P genes contributes to inter-individual variation in skin pigmentation phenotypes in a Tibetan population. Hum. Genet. 108: 516-520, 2001.
[0016850]7438.Bastiaens, M.; ter Huurne, J.; Gruis, N.; Bergman, W.; Westendorp, R.; Vermeer, B.-J.; Bouwes Bavinck, J.-N.: The melanocortin-1-receptor gene is the major freckle gene. Hum. Molec. Genet. 10: 1701-1708, 2001.
[0016851]7439.Chottiner, E. G.; Shewach, D. S.; Datta, N. S.; Ashcraft, E.; Gribbin, D.; Ginsburg, D.; Fox, I. H.; Mitchell, B. S.: Cloning and expression of human deoxycytidine kinase cDNA. Proc. Nat. Acad. Sci. 88: 1531-1535, 1991.
[0016852]7440.Huang, S.-H.; Tomich, J. M.; Wu, H.; Jong, A.; Holcenberg, J.: Human deoxycytidine kinase: sequence of cDNA clones and analysis of expression in cell lines with and without enzyme activity. J. Biol. Chem. 264: 14762-14768, 1989. Note: Correction: J. Biol. Chem. 266: 5353 only, 1991.
[0016853]7441.Johansson, M.; Brismar, S.; Karlsson, A.: Human deoxycytidine kinase is located in the cell nucleus. Proc. Nat. Acad. Sci. 94: 11941-11945, 1997.
[0016854]7442.Song, J. J.; Walker, S.; Chen, E.; Johnson, E. E., II; Spychala, J.; Gribbin, T.; Mitchell, B. S.: Genomic structure and chromosomal localization of the human deoxycytidine kinase gene. Proc. Nat. Acad. Sci. 90: 431-434, 1993.
[0016855]7443.Nurnberg, P.; Thiele, H.; Chandler, D.; Hohne, W.; Cunningham, M. L.; Ritter, H.; Leschik, G.; Uhlmann, K.; Mischung, C.; Harrop, K.; Goldblatt, J.; Borochowitz, Z. U.; Kotzot, D.; Westermann, F.; Mundlos, S.; Braun, H.-S.; Laing, N.; Tinschert, S.: Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia. Nature Genet. 28: 37-41, 2001.
[0016856]7444.Nurnberg, P.; Tinschert, S.; Mrug, M.; Hampe, J.; Muller, C. R.; Fuhrmann, E.; Braun, H.-S.; Reis, A.: The gene for autosomal dominant craniometaphyseal dysplasia maps to chromosome 5q and is distinct from the growth hormone-receptor gene. Am. J. Hum. Genet. 61: 918-923, 1997.
[0016857]7445.Soriano, P.; Montgomery, C.; Geske, R.; Bradley, A.: Targeted disruption of the c-src proto-oncogene leads to osteopetrosis in mice. Cell 64: 693-702, 1991.
[0016858]7446.Zhang, S.; Xu, L.; Lee, J.; Xu, T.: Drosophila Atrophin homolog functions as a transcriptional corepressor in multiple developmental processes. Cell 108: 45-56, 2002.
[0016859]7447.Stegmann, A. P. A.; Honders, M. W.; Bolk, M. W. J.; Wessels, J.; Willemze, R.; Landegent, J. E.: Assignment of the human deoxycytidine kinase (DCK) gene to chromosome 4 band q13.3-q21.1. Genomics 17: 528-529, 1993.
[0016860]7448.Sanchez-Madrid, F.; Nagy, J.; Robbins, E.; Simon, P.; Springer, T. A.: A human leukocyte differentiation antigen family with distinct alpha subunits and a common beta subunit: the lymphocyte function-associated antigen (LFA-1), the C3bi complement receptor (OKM1/Mac-1), and the p150,95 molecule. J. Exp. Med. 158: 1785-1803, 1983.
[0016861]7449.Saint-Ruf, C.; Panigada, M.; Azogui, O.; Debey, P.; von Boehmer, H.; Grassi, F.: Different initiation of pre-TCR and gamma-delta-TCR signalling. Nature 406: 524-527, 2000.
[0016862]7450.Delague, V.; Bareil, C.; Tuffery, S.; Bouvagnet, P.; Chouery, E.; Koussa, S.; Maisonobe, T.; Loiselet, J.; Megarbane, A.; Claustres, M.: Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene. Am. J. Hum. Genet. 67: 236-243, 2000.
[0016863]7451.Guilbot, A.; Williams, A.; Ravise, N.; Verny, C.; Brice, A.; Sherman, D. L.; Brophy, P. J.; LeGuern, E.; Delague, V.; Bareil, C.; Megarbane, A.; Claustres, M.: A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease. Hum. Molec. Genet. 10: 415-421, 2001.
[0016864]7452.Roa, B. B.; Dyck, P. J.; Marks, H. G.; Chance, P. F.; Lupski, J. R.: Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. Nature Genet. 5: 269-273, 1993.
[0016865]7453.Aida, K.; Koishi, S.; Inoue, M.; Nakazato, M.; Tawata, M.; Onaya, T.: Familial hypocalciuric hypercalcemia associated with mutation in the human Ca(2+)-sensing receptor gene. J. Clin. Endocr. Metab. 80: 2594-2598, 1995.
[0016866]7454.Bai, M.; Janicic, N.; Trivedi, S.; Quinn, S. J.; Cole, D. E. C.; Brown, E. M.; Hendy, G. N.: Markedly reduced activity of mutant calcium-sensing receptor with an inserted Alu element from a kindred with familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. J. Clin. Invest. 99: 1917-1925, 1997.
[0016867]7455.Bai, M.; Pearce, S. H. S.; Kifor, O.; Trivedi, S.; Stauffer, U. G.; Thakker, R. V.; Brown, E. M.; Steinmann, B.: In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca(2+)-sensing receptor gene: Normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemia. J. Clin. Invest. 99: 88-96, 1997.
[0016868]7456.Brown, E. M.; Gamba, G.; Riccardi, D.; Lombardi, M.; Butters, R.; Kifor, O.; Sun, A.; Hediger, M.; Lytton, M. A.; Hebert, S. C.: Cloning and characterization of an extracellular Ca(2+)-sensing receptor from bovine parathyroid. Nature 366: 575-580, 1993.
[0016869]7457.Chou, Y.-H. W.; Pollak, M. R.; Brandi, M. L.; Toss, G.; Arnqvist, H.; Atkinson, A. B.; Papapoulos, S. E.; Marx, S.; Brown, E. M.; Seidman, J. G.; Seidman, C. E.: Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia. Am. J. Hum. Genet. 56: 1075-1079, 1995.
[0016870]7458.Clapham, D. E.: Mutations in G protein-linked receptors: novel insights on disease. Cell 75: 1237-1239, 1993.
[0016871]7459.Cole, D. E. C.; Forsythe, C. R.; Dooley, J. M.; Grantmyre, E. B.; Salisbury, S. R.: Primary neonatal hyperparathyroidism: a devastating neurodevelopmental disorder if left untreated. J. Craniofacial Genet. Dev. Biol. 10: 205-214, 1990.
[0016872]7460.Selden, J. R.; Emanuel, B. S.; Wang, E.; Cannizzaro, L.; Palumbo, A.; Erikson, J.; Nowell, P. C.; Rovera, G.; Croce, C. M.: Amplified C-lambda and c-abl genes are on the same marker chromosome in K562 leukemia cells. Proc. Nat. Acad. Sci. 80: 7289-7292, 1983.
[0016873]7461.Mufti, G. J.; Hamblin, T. J.; Oscier, D. G.; Johnson, S.: Common ALL with pre-B-cell features showing (8;14) and (14;18) chromosome translocations. Blood 62: 1141-1146, 1983.
[0016874]7462.Nakayama, K.; Nakayama, K.; Negishi, I.; Kuida, K.; Sawa, H.; Loh, D. Y.: Targeted disruption of Bcl-2-alpha-beta in mice: occurrence of gray hair, polycystic kidney disease, and lymphocytopenia. Proc. Nat. Acad. Sci. 91: 3700-3704, 1994.
[0016875]7463.Negrini, M.; Silini, E.; Kozak, C.; Tsujimoto, Y.; Croce, C. M. : Molecular analysis of mbcl-2: structure and expression of the murine gene homologous to the human gene involved in follicular lymphoma. Cell 49: 455-463, 1987.
[0016876]7464.Ngan, B.-Y.; Chen-Levy, Z.; Weiss, L. M.; Warnke, R. A.; Cleary, M. L.: Expression in non-Hodgkin's lymphoma of the BCL-2 protein associated with the t(14;18) chromosomal translocation. New Eng. J. Med. 318: 1638-1644, 1988.
[0016877]7465.Nunez, G.; Hockenbery, D.; McDonnell, T. J.; Sorensen, C. M.; Korsmeyer, S. J.: Bcl-2 maintains B cell memory. Nature 353: 71-73, 1991.
[0016878]7466.Nunez, G.; Seto, M.; Seremetis, S.; Ferrero, D.; Grignani, F.; Korsmeyer, S. J.; Dalla-Favera, R.: Growth- and tumor-promoting effects of deregulated BCL2 in human B-lymphoblastoid cells. Proc. Nat. Acad. Sci. 86: 4589-4593, 1989.
[0016879]7467.Pegoraro, L.; Palumbo, A.; Erikson, J.; Falda, M.; Giovanazzo, B.; Emanuel, B. S.; Rovera, G.; Nowell, P. C.; Croce, C. M.: A 14;18 and an 8;14 chromosome translocation in a cell line derived from an acute B-cell leukemia. Proc. Nat. Acad. Sci. 81: 7166-7170, 1984.
[0016880]7468.Reed, J. C.; Cuddy, M.; Slabiak, T.; Croce, C. M.; Nowell, P. C.: Oncogenic potential of bcl-2 demonstrated by gene transfer. Nature 336: 259-261, 1988.
[0016881]7469.Sagot, Y.; Dubois-Dauphin, M.; Tan, S. A.; de Bilbao, F.; Aebischer, P.; Martinou, J.-C.; Kato, A. C.: Bcl-2 overexpression prevents motoneuron cell body loss but not axonal degeneration in a mouse model of a neurodegenerative disease. J. Neurosci. 15: 7727-7733, 1995.
[0016882]7470.Sentman, C. L.; Shutter, J. R.; Hockenbery, D.; Kanagawa, O.; Korsmeyer, S. J.: bcl-2 inhibits multiple forms of apoptosis but not negative selection in thymocytes. Cell 67: 879-888, 1991.
[0016883]7471.Silverman, G. A.; Green, E. D.; Young, R. L.; Jockel, J. I.; Domer, P. H.; Korsmeyer, S. J.: Meiotic recombination between yeast artificial chromosomes yields a single clone containing the entire BCL2 protooncogene. Proc. Nat. Acad. Sci. 87: 9913-9917, 1990.
[0016884]7472.Strasser, A.; Harris, A. W.; Cory, S.: bcl-2 transgene inhibits T cell death and perturbs thymic self-censorship. Cell 67: 889-899, 1991.
[0016885]7473.Sugino, N.; Suzuki, T.; Kashida, S.; Karube, A.; Takiguchi, S.; Kato, H.: Expression of Bcl-2 and Bax in the human corpus luteum during the menstrual cycle in early pregnancy: regulation by human chorionic gonadotropin. J. Clin. Endocr. Metab. 85: 4379-4386, 2000.
[0016886]7474.Tsujimoto, Y.: Overexpression of the human BCL-2 gene product results in growth enhancement of Epstein-Barr virus-immortalized B cells. Proc. Nat. Acad. Sci. 86: 1958-1962, 1989.
[0016887]7475.Tsujimoto, Y.; Bashir, M. M.; Givol, I.; Cossman, J.; Jaffe, E.; Croce, C. M.: DNA rearrangements in human follicular lymphoma can involve the 5-prime or the 3-prime region of the bcl-2 gene. Proc. Nat. Acad. Sci. 84: 1329-1331, 1987.
[0016888]7476.Tsujimoto, Y.; Cossman, J.; Jaffe, E.; Croce, C. M.: Involvement of the bcl-2 gene in human follicular lymphoma. Science 228: 1440-1443, 1985.
[0016889]7477.Tsujimoto, Y.; Croce, C. M.: Analysis of the structure, transcripts, and protein products of bcl-2, the gene involved in human follicular lymphoma. Proc. Nat. Acad. Sci. 83: 5214-5218, 1986.
[0016890]7478.Tsujimoto, Y.; Finger, L. R.; Yunis, J.; Nowell, P. C.; Croce, C. M.: Cloning of the chromosome breakpoint of neoplastic B cells with the t(14;18) chromosome translocation. Science 226: 1097-1099, 1985.
[0016891]7479.Tsujimoto, Y.; Gorham, J.; Cossman, J.; Jaffe, E.; Croce, C. M. : The t(14;18) chromosome translocations involved in B-cell neoplasms result from mistakes in VDJ joining. Science 229: 1390-1393, 1985.
[0016892]7480.Vanasse, G. J.; Halbrook, J.; Thomas, S.; Burgess, A.; Hoekstra, M. F.; Disteche, C. M.; Willerford, D. M.: Genetic pathway to recurrent chromosome translocations in murine lymphoma involves V(D)J recombinase. J. Clin. Invest. 103: 1669-1675, 1999.
[0016893]7481.Vaskivuo, T. E.; Anttonen, M.; Herva, R.; Billig, H.; Dorland, M.; Te Velde, E. R.; Stenback, F.; Heikinheimo, M.; Tapanainen, J. S.: Survival of human ovarian follicles from fetal to adult life: apoptosis, apoptosis-related proteins, and transcription factor GATA-4. J. Clin. Endocr. Metab. 86: 3421-3429, 2001.
[0016894]7482.Vaux, D. L.; Cory, S.; Adams, J. M.: Bcl-2 gene promotes haemopoietic cell survival and cooperates with c-myc to immortalize pre-B cells. Nature 335: 440-442, 1988.
[0016895]7483.Wang, H.-G.; Rapp, U. R.; Reed, J. C.: Bcl-2 targets the protein kinase Raf-1 to mitochondria. Cell 87: 629-638, 1996.
[0016896]7484.Williams, G. T.: Programmed cell death: apoptosis and oncogenesis. Cell 65: 1097-1098, 1991.
[0016897]7485.Yunis, J. J.; Frizzera, G.; Oken, M. M.; McKenna, J.; Theologides, A.; Arnesen, M.: Multiple recurrent genomic defects in follicular lymphoma: a possible model for cancer. New Eng. J. Med. 316: 79-84, 1987.
[0016898]7486.Yunis, J. J.; Mayer, M. G.; Arnesen, M. A.; Aeppli, D. P.; Oken, M. M.; Frizzera, G.: Bcl-2 and other genomic alterations in the prognosis of large-cell lymphoma. New Eng. J. Med. 320: 1047-1054, 1989.
[0016899]7487.Cleary, M. L.; Mellentin, J. D.; Spies, J.; Smith, S. D.: Chromosomal translocation involving the beta T cell receptor gene in acute leukemia. J. Exp. Med. 167: 682-687, 1988.
[0016900]7488.Kuo, S. S.; Mellentin, J. D.; Copeland, N. G.; Gilbert, D. J.; Jenkins, N. A.; Cleary, M. L.: Structure, chromosome mapping, and expression of the mouse Lyl-1 gene. Oncogene 6: 961-968, 1991.
[0016901]7489.Inoguchi, K.; Yoshioka, H.; Khaleduzzaman, M.; Ninomiya, Y.: The mRNA for alpha-1(XIX) collagen chain, a new member of FACITs, contains a long unusual 3-prime untranslated region and displays many unique splicing variants. J. Biochem. 117: 137-146, 1995.
[0016902]7490.Khaleduzzaman, M.; Sumiyoshi, H.; Ueki, Y.; Inoguchi, K.; Ninomiya, Y.; Yoshioka, H.: Structure of the human type XIX collagen (COL19A1) gene, which suggests it has arisen from an ancestor gene of the FACIT family. Genomics 45: 304-312, 1997.
[0016903]7491.Myers, J. C.; Sun, M. J.; D'Ippolito, J. A.; Jabs, E. W.; Neilson, E. G.; Dion, A. S.: Human cDNA clones transcribed from an unusually high molecular weight RNA encode a new collagen chain. Gene 123: 211-217, 1993.
[0016904]7492.Yoshioka, H.; Zhang, H.; Ramirez, F.; Mattei, M.-G.; Moradi-Ameli, M.; van der Rest, M.; Gordon, M. K.: Synteny between the loci for a novel FACIT-like collagen (D6S228E) and alpha 1(IX) collagen (COL9A1) on 6q12-q14 in humans. Genomics 13: 884-886, 1992.
[0016905]7493.Gerecke, D. R.; Olson, P. F.; Koch, M.; Knoll, J. H. M.; Taylor, R.; Hudson, D. L.; Champliaud, M.-F.; Olsen, B. R.; Burgeson, R. E. : Complete primary structure of two splice variants of collagen XII, and assignment of alpha-1(XII) collagen (COL12A1), alpha-1(IX) collagen (COL9A1), and alpha-1(XIX) collagen (COL19A1) to human chromosome 6q12-q13. Genomics 41: 236-242, 1997.
[0016906]7494.Olufemi, S.-E.; Green, J. S.; Manickam, P.; Guru, S. C.; Agarwal, S. K.; Kester, M. B.; Dong, Q.; Burns, A. L.; Spiegel, A. M.; Marx, S. J.; Collins, F. S.; Chandrasekharappa, S. C.: Common ancestral mutation in the MEN1 gene is likely responsible for the prolactinoma variant of MEN1 (MEN1-Burin) in four kindreds from Newfoundland. Hum. Mutat. 11: 264-269, 1998.
[0016907]7495.Tong, Q.; Dalgin, G.; Xu, H.; Ting, C.-N.; Leiden, J. M.; Hotamisligil, G. S.: Function of GATA transcription factors in preadipocyte-adipocyte transition. Science 290: 134-138, 2000.
[0016908]7496.Litt, M.; Buroker, N. E.; Kondoleon, S.; Douglass, J.; Liston, D.; Sheehy, R.; Magenis, R. E.: Chromosomal localization of the human proenkephalin and prodynorphin genes. Am. J. Hum. Genet. 42: 327-334, 1988.
[0016909]7497.Litt, M.; Buroker, N. E.; Kondoleon, S. K.; Liston, D.; Douglass, J.; Sheehy, R.; Magenis, R. E.: Chromosomal localization of the human proenkephalin and prodynorphin genes. (Abstract) Cytogenet. Cell Genet. 46: 651 only, 1987.
[0016910]7498.Berkovic, S. F.; McIntosh, A.; Howell, R. A.; Mitchell, A.; Sheffield, L. J.; Hopper, J. L.: Familial temporal lobe epilepsy: a common disorder identified in twins. Ann. Neurol. 40: 227-235, 1996.
[0016911]7499.Cendes, F.; Lopes-Cendes, I.; Andermann, E.; Andermann, F.: Familial temporal lobe epilepsy: a clinically heterogeneous syndrome. Neurology 50: 554-557, 1998.
[0016912]7500.Horikawa, S.; Takai, T.; Toyosato, M.; Takahashi, H.; Noda, M.; Kakidani, H.; Kubo, T.; Hirose, T.; Inayama, S.; Hayashida, H.; Miyata, T.; Numa, S.: Isolation and structural organization of the human preproenkephalin B gene. Nature 306: 611-614, 1983.
[0016913]7501.Grigorenko, E. L.; Wood, F. B.; Meyer, M. S.; Hart, L. A.; Speed, W. C.; Shuster, A.; Pauls, D. L.: Susceptibility loci for distinct components of developmental dyslexia on chromosomes 6 and 15. Am. J. Hum. Genet. 60: 27-39, 1997.
[0016914]7502.Lorand, L.; Velasco, P. T.; Rinne, J. R.; Amare, M.; Miller, L. K.; Zucker, M. L.: Autoimmune antibody (IgG Kansas) against the fibrin stabilizing factor (factor XIII) system. Proc. Nat. Acad. Sci. 85: 232-236, 1988.
[0016915]7503.Takahashi, K.; Newburger, P. E.; Cohen, H. J.: Glutathione peroxidase protein: absence in selenium deficiency states and correlation with enzymatic activity. J. Clin. Invest. 77: 1402-1404, 1986.
[0016916]7504.Giuili, G.; Scholl, U.; Bulle, F.; Guellaen, G.: Molecular cloning of the cDNAs coding for the two subunits of soluble guanylyl cyclase from human brain. FEBS Lett. 304: 83-88, 1992.
[0016917]7505.Yan, B.; Heus, J.; Lu, N.; Nichols, R. C.; Raben, N.; Plotz, P. H.: Transcriptional regulation of the human acid alpha-glucosidase gene: identification of a repressor element and its transcription factors Hes-1 and YY1. J. Biol. Chem. 276: 1789-1793, 2001.
[0016918]7506.Yan, B.; Raben, N.; Plotz, P. H.: Hes-1, a known transcriptional repressor, acts as a transcriptional activator for the human acid alpha-glucosidase gene in human fibroblast cells. Biochem. Biophys. Res. Commun. 291: 582-587, 2002.
[0016919]7507.Pannett, A. A. J.; Thakker, R. V.: Somatic mutations in MEN type 1 tumors, consistent with the Knudson 'two-hit' hypothesis. J. Clin. Endocr. Metab. 86: 4371-4374, 2001.
[0016920]7508.Petty, E. M.; Green, J. S.; Marx, S. J.; Taggart, R. T.; Farid, N.; Bale, A. E.: Mapping the gene for hereditary hyperparathyroidism and prolactinoma (MEN1-Burin) to chromosome 11q: evidence for a founder effect in patients from Newfoundland. Am. J. Hum. Genet. 54: 1060-1066, 1994.
[0016921]7509.Prezant, T. R.; Levine, J.; Melmed, S.: Molecular characterization of the Men1 tumor suppressor gene in sporadic pituitary tumors. J. Clin. Endocr. Metab. 83: 1388-1391, 1998.
[0016922]7510.Prosser, P. R.; Karam, J. H.; Townsend, J. J.; Frosham, P. H. : Prolactin-secreting pituitary adenomas in multiple endocrine adenomatosis, type I. Ann. Intern. Med. 91: 41-44, 1979.
[0016923]7511.Regan, P. T.; Malagelada, J.-R.: A reappraisal of clinical, roentgenographic, and endoscopic features of the Zollinger-Ellison syndrome. Mayo Clin. Proc. 53: 19-23, 1978.
[0016924]7512.Reimer, D.; Singh, S. M.: A kindred with 5 cases of multiple endocrine adenomatosis type I. Hum. Hered. 31: 84-88, 1981.
[0016925]7513.Richard, C. W., III; Withers, D. A.; Meeker, T. C.; Maurer, S.; Evans, G. A.; Myers, R. M.; Cox, D. R.: A radiation hybrid map of the proximal long arm of human chromosome 11 containing the multiple endocrine neoplasia type 1 (MEN-1) and bcl-1 disease loci. Am. J. Hum. Genet. 49: 1189-1196, 1991.
[0016926]7514.Rochelle, J. M.; Watson, M. L.; Oakey, R. J.; Seldin, M. F.: A linkage map of mouse chromosome 19:definition of comparative mapping relationships with human chromosomes 10 and 11 including the MEN1 locus. Genomics 14: 26-31, 1992.
[0016927]7515.Sato, K.; Obara, T.; Yamazaki, K.; Kanbe, M.; Nakajima, K.; Yamada, A.; Yanagisawa, T.; Kato, Y.; Nishikawa, T.; Takano, K.: Somatic mutations of the MEN1 gene and microsatellite instability in a case of tertiary hyperparathyroidism occurring during high phosphate therapy for acquired, hypophosphatemic osteomalacia. J. Clin. Endocr. Metab. 86: 5564-5571, 2001.
[0016928]7516.Sato, M.; Matsubara, S.; Miyauchi, A.; Ohye, H.; Imachi, H.; Murao, K.; Takahara, J.: Identification of five novel germline mutations of the MEN1 gene in Japanese multiple endocrine neoplasia type 1 (MEN1) families. J. Med. Genet. 35: 915-919, 1998.
[0016929]7517.Sawicki, M. P.; Wan, Y.-J. Y.; Johnson, C. L.; Berenson, J.; Gatti, R.; Passaro, E., Jr.: Loss of heterozygosity on chromosome 11 in sporadic gastrinomas. Hum. Genet. 89: 445-449, 1992.
[0016930]7518.Schimke, R. N.: Multiple endocrine adenomatosis syndromes. Adv. Intern. Med. 21: 249-265, 1976.
[0016931]7519.Schimke, R. N.: Genetic aspects of multiple endocrine neoplasia. Ann. Rev. Med. 35: 25-31, 1984.
[0016932]7520.Schimke, R. N.: Multiple endocrine neoplasia: search for the oncogenic trigger. (Editorial) New Eng. J. Med. 314: 1315-1316, 1986.
[0016933]7521.Schulte, K.-M.; Heinze, M.; Mengel, M.; Simon, D.; Scheuring, S.; Kohrer, K.; Roher, H.-D.: MEN I gene mutations in sporadic adrenal adenomas. Hum. Genet. 105: 603-610, 1999.
[0016934]7522.Schussheim, D. H.; Skarulis, M. C.; Agarwal, S. K.; Simonds, W. F.; Burns, A. L.; Spiegel, A. M.; Marx, S. J.: Multiple endocrine neoplasia type 1: new clinical and basic findings. Trends Endocr. Metab. 12: 173-178, 2001.
[0016935]7523.Skogseid, B.; Larsson, C.; Lindgren, P.-G.; Kvanta, E.; Rastad, J.; Theodorsson, E.; Wide, L.; Wilander, E.; Oberg, K.: Clinical and genetic features of adrenocortical lesions in multiple endocrine neoplasia type 1. J. Clin. Endocr. Metab. 75: 76-81, 1992.
[0016936]7524.Snyder, N.; Scurry, M.; Hughes, W.: Hypergastrinemia in familial multiple endocrine adenomatosis. Ann. Intern. Med. 80: 321-325, 1974.
[0016937]7525.Snyder, N., III; Scurry, M. T.; Deiss, W. P., Jr.: Five families with multiple endocrine adenomatosis. Ann. Intern. Med. 76: 53-58, 1972.
[0016938]7526.Stacpoole, P. W.; Jaspan, J.; Kasselberg, A. G.; Halter, S. A.; Polonsky, K.; Gluck, F. W.; Liljenquist, J. E.; Rabin, D.: A familial glucagonoma syndrome: genetic, clinical and biochemical features. Am. J. Med. 70: 1017-1026, 1981.
[0016939]7527.Stadil, F.; Stage, G.; Rehfeld, J. F.; Efsen, F.; Fischerman, K.: Treatment of Zollinger-Ellison syndrome with streptozotocin. New Eng. J. Med. 294: 1440-1442, 1976.
[0016940]7528.Stratakis, C. A.; Schussheim, D. H.; Freedman, S. M.; Keil, M. F.; Pack, S. D.; Agarwal, S. K.; Skarulis, M. C.; Weil, R. J.; Lubensky, I. A.; Zhuang, Z.; Oldfield, E. H.; Marx, S. J.: Pituitary macroadenoma in a 5-year-old: an early expression of multiple endocrine neoplasia type 1. J. Clin. Endocr. Metab. 85: 4776-4780, 2000.
[0016941]7529.Straus, E.; Johnson, G. F.; Yalow, R. S.: Canine Zollinger-Ellison syndrome. Gastroenterology 72: 380-381, 1977.
[0016942]7530.Tahara, H.; Imanishi, Y.; Yamada, T.; Tsujimoto, Y.; Tabata, T.; Inoue, T.; Inaba, M.; Morii, H.; Nishizawa, Y.: Rare somatic inactivation of the multiple endocrine neoplasia type 1 gene in secondary hyperparathyroidism of uremia. J. Clin. Endocr. Metab. 85: 4113-4117, 2000.
[0016943]7531.Tateishi, R.; Wada, A.; Ishiguro, S.; Ehara, M.; Sakamoto, H.; Miki, T.; Mori, Y.; Matsui, Y.; Ishikawa, O.: Coexistence of bilateral pheochromocytoma and pancreatic islet cell tumor: report of a case and review of the literature. Cancer 42: 2928-2934, 1978.
[0016944]7532.Teh, B. T.; Esapa, C. T.; Houlston, R.; Grandell, U.; Farnebo, F.; Nordenskjold, M.; Pearce, C. J.; Carmichael, D.; Larsson, C.; Harris, P. E.: A family with isolated hyperparathyroidism segregating a missense MEN1 mutation and showing loss of the wild-type alleles in the parathyroid tumors. (Letter) Am. J. Hum. Genet. 63: 1554-1549, 1998. 100. Teh, B. T.; Kytola, S.; Farnebo, F.; Bergman, L.; Wong, F. K.; Weber, G.; Hayward, N.; Larsson, C.; Skogseid, B.; Beckers, A.; Phelan, C.; Edwards, M.; and 29 others: Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism. J. Clin. Endocr. Metab. 83: 2621-2626, 1998. 101. Thakker, R. V.: Multiple endocrine neoplasia: syndromes of the twentieth century. (Editorial) J. Clin. Endocr. Metab. 83: 2617-2620, 1998. 1. Aach, R.; Kissane, J. M.: Clinicopathologic conference: multiple endocrine adenomatosis. Am. J. Med. 47: 608-618, 1969. 102. Thakker, R. V.; Bouloux, P.; Wooding, C.; Chotai, K.; Broad, P. M.; Spurr, N. K.; Besser, G. M.; O'Riordan, J. L. H.: Association of parathyroid tumors in multiple endocrine neoplasia type I with loss of alleles on chromosome 11. New Eng. J. Med. 321: 218-224, 1989. 103. The European Consortium on MEN1: Construction of a 1.2-Mb sequence-ready contig of chromosome 11q13 encompassing the multiple endocrine neoplasia type 1 (MEN1) gene. Genomics 44: 94-100, 1997. 104. Underwood, L. E.; Jacobs, N. M.: Familial endocrine adenomatosis. Am. J. Dis. Child. 106: 218-223, 1963. 105. Vance, J. E.; Stoll, R. W.; Kitabchi, A. E.; Buchanan, K. D.; Hollander, D.; Williams, R. H.: Familial nesidioblastosis as the predominant manifestation of multiple endocrine adenomatosis. Am. J. Med. 52: 211-227, 1972. 106. Vance, J. E.; Stoll, R. W.; Kitabchi, A. E.; Williams, R. H.; Wood, F. C., Jr.: Nesidioblastosis in familial endocrine adenomatosis. J.A.M.A. 207: 1679-1682, 1969. 107. Verges, B.; Boureille, F.; Goudet, P.; Murat, A.; Beckers, A.; Sassolas, G.; Cougard, P.; Chambe, B.; Montvernay, C.; Calender, A.; Groupe d'Etude des Neoplasies Endocriniennes Multiples: Pituitary disease in MEN type 1 (MEN1): data from the France-Belgium MEN1 multicenter study. J. Clin. Endocr. Metab. 87: 457-465, 2002. 108. Vortmeyer, A. O.; Boni, R.; Pak, E.; Pack, S.; Zhuang, Z.: Multiple endocrine neoplasia 1 gene alterations in MEN1-associated and sporadic lipomas. (Letter) J. Nat. Cancer Inst. 90: 398-399, 1998. 109. Wautot, V.; Vercherat, C.; Lespinasse, J.; Chambe, B.; Lenoir, G. M.; Zhang, C. X.; Porchet, N.; Cordier, M.; Beroud, C.; Calender, A.: Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein. Hum. Mutat. 20: 35-47, 2002. 110. Way, L.; Goldman, L.; Dunphy, J. E.: Zollinger-Ellison syndrome: an analysis of twenty-five cases. Am. J. Surg. 116: 293-304, 1968. 111. Wermer, P.: Genetic aspects of adenomatosis of endocrine glands. Am. J. Med. 16: 363-371, 1954. 112. Williams, E. D.; Celestin, L. R.: The association of bronchial carcinoid and pluriglandular adenomatosis. Thorax 17: 120-127, 1962. 113. Wolfe, M. M.; Jensen, R. T.: Zollinger-Ellison syndrome: current concepts in diagnosis and management. New Eng. J. Med. 317: 1200-1209, 1987. 114. Yu, F.; Venzon, D. J.; Serrano, J.; Goebel, S. U.; Doppman, J. L.; Gibril, F.; Jensen, R. T.: Prospective study of the clinical course, prognostic factors, causes of death, and survival in patients with long-standing Zollinger-Ellison syndrome. J. Clin. Oncol. 17: 615-630, 1999. 115. Zollinger, R. M.; Ellison, E. H.: Primary peptic ulcerations of the jejunum associated with islet cell tumors of the pancreas. Ann. Surg. 142: 709-728, 1955.
[0016945]7533.Losowsky, M. S.; Miloszewski, K. J. A.: Factor XIII. Brit. J. Haemat. 37: 1-5, 1977.
[0016946]7534.McAlpine, P. J.: Personal Communication. Winnipeg, Manitoba, Canada 2/1/1989.
[0016947]7535.McDonagh, J.; McDonagh, R. P.; Myllyla, G.; Ikkala, E.: Factor XIII deficiency: a genetic study of two affected kindreds in Finland. Blood 43: 327-332, 1974.
[0016948]7536.McDonagh, J.; McDonagh, R. P., Jr.; Duckert, F.: Genetic aspects of factor XIII deficiency. Ann. Hum. Genet. 35: 197-206, 1971.
[0016949]7537.Mikkola, H.; Syrjala, M.; Rasi, V.; Vahtera, E.; Hamalainen, E.; Peltonen, L.; Palotie, A.: Deficiency in the A-subunit of coagulation factor XIII: two novel point mutations demonstrate different effects on transcript levels. Blood 84: 517-525, 1994.
[0016950]7538.Mikkola, H.; Yee, V. C.; Syrjala, M.; Seitz, R.; Egbring, R.; Petrini, P.; Ljung, R.; Ingerslev, J.; Teller, D. C.; Peltonen, L.; Palotie, A.: Four novel mutations in deficiency of coagulation factor XIII: consequences to expression and structure of the A subunit. Blood 87: 141-151, 1996.
[0016951]7539.Nishigaki, T.; Tokunaga, K.; Ishii, C.; Omoto, K.; Akaza, T.; Akiyama, N.; Juji, T.; Murata, S.; Naito, S.; Saji, H.; Satoh, H.; Shiraki, T.; Tokunaga, K.; Yasuda, N.: No evidence for linkage between the loci for coagulation factor XIII-A and HLA. Hum. Genet. 72: 266-267, 1986.
[0016952]7540.Olaisen, B.; Gedde-Dahl, T., Jr.; Teisberg, P.; Thorsby, E.; Siverts, A.; Jonassen, R.; Wilhelmy, M. C.: A structural locus for coagulation factor XIIIA (F13A) is located distal to the HLA region on chromosome 6p in man. Am. J. Hum. Genet. 37: 215-220, 1985.
[0016953]7541.Olaisen, B.; Siverts, A.; Gedde-Dahl, T., Jr.: Linkage data for the coagulation factor genes FXIIIA and FXIIIB. (Abstract) Cytogenet. Cell Genet. 37: 560 only, 1984.
[0016954]7542.Ratnoff, O. D.; Steinberg, A. G.: Inheritance of fibrin-stabilizing-factor deficiency. Lancet I: 25-26, 1968.
[0016955]7543.Schwartz, M. L.; Pizzo, S. V.; Hill, R. L.; McKee, P. A.: The subunit structures of human plasma and platelet factor XIII (fibrin-stabilizing factor). J. Biol. Chem. 246: 5851-5854, 1971.
[0016956]7544.Sebetan, I. M.: A new method for FXIIIA genetic variants determination using isoelectric focusing in 1 M urea: evidence for three structural gene loci, FXIIIA1, FXIIIA2, and FXIIIA3. Hum. Genet. 81: 95-97, 1988.
[0016957]7545.Shmerling, D. H.; Jung, E.; Duckert, F.: Eine neue familiaere Koagulopathie infolge Mangels an fibrinstabilisierendem Faktor. Helv. Paediat. Acta 15: 471-478, 1960.
[0016958]7546.Souri, M.; Yee, V. C.; Kasai, K.; Kaneshiro, T.; Narasaki, K.; Castaman, G.; Ichinose, A.: Novel Y283C mutation of the A subunit for coagulation factor XIII: molecular modelling predicts its impaired protein folding and dimer formation. Brit. J. Haemat. 113: 652-654, 2001.
[0016959]7547.Standen, G. R.; Bowen, D. J.: Factor XIII A-Bristol 1: detection of a nonsense mutation (arg171-to-stop codon) in factor XIII A subunit deficiency. Brit. J. Haemat. 85: 769-772, 1993.
[0016960]7548.Steinberg, A. G.; Ratnoff, O. D.: Inheritance of factor XIII. (Letter) Am. J. Hum. Genet. 22: 597-598, 1970.
[0016961]7549.Suzuki, K.; Matsui, K.; Ito, S.; Fujita, K.; Matsumoto, H.: Polymorphism of the A subunit of coagulation factor XIII: evidence for subtypes of the FXIIIA*I and FXIIIA*2 alleles. Am. J. Hum. Genet. 43: 170-174, 1988.
[0016962]7550.Takahashi, N.; Takahashi, Y.; Putnam, F. W.: Primary structure of blood coagulation factor XIIIa (fibrinoligase, transglutaminase) from human placenta. Proc. Nat. Acad. Sci. 83: 8019-8023, 1986.
[0016963]7551.Takahashi, N.; Tsukamoto, H.; Umeyama, H.; Castaman, G.; Rodeghiero, F.; Ichinose, A.: Molecular mechanisms of type II factor XIII deficiency: novel gly562-to-arg mutation and C-terminal truncation of the A subunit cause factor XIII deficiency as characterized in a mammalian expression system. Blood 91: 2830-2838, 1998.
[0016964]7552.Wong, P.; Komarnicki, L.; Schroeder, M. L.; Lewis, M.; Kaita, H.; Philipps, S.; Stranc, L.; McAlpine, P. J.: Analysis for linkage between F13A and three chromosome 6 marker loci: evidence for 6pter:F13A:HLA:GLO1:cen gene order. Hum. Genet. 79: 228-230, 1988.
[0016965]7553.Zahir, M.: Congenital deficiency of fibrin-stabilizing factor: report of a case and family study. J.A.M.A. 207: 751-753, 1969.
[0016966]7554.Zoghbi, H. Y.; Daiger, S. P.; McCall, A.; O'Brien, W. E.; Beaudet, A. L.: Extensive DNA polymorphism at the factor XIIIa (F13A) locus and linkage to HLA. Am. J. Hum. Genet. 42: 877-883, 1988.
[0016967]7555.Ayyagari, R.; Griesinger, I. B.; Bingham, E.; Lark, K. K.; Moroi, S. E.; Sieving, P. A.: Autosomal dominant hemorrhagic macular dystrophy not associated with the TIMP3 gene. Arch. Ophthal. 118: 85-92, 2000.
[0016968]7556.Felbor, U.; Suvanto, E. A.; Forsius, H. R.; Eriksson, A. W.; Weber, B. H. F.: Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance. Am. J. Hum. Genet. 60: 57-62, 1997.
[0016969]7557.Forsius, H. R.; Eriksson, A. W.; Suvanto, E. A.; Alanko, H. I. : Pseudoinflammatory fundus dystrophy with autosomal recessive inheritance. Am. J. Ophthal. 94: 634-649, 1982.
[0016970]7558.Weber, B. H. F.; Vogt, G.; Pruett, R. C.; Stohr, H.; Felbor, U. : Mutations in the tissue inhibitor metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy. Nature Genet. 8: 352-356, 1994.
[0016971]7559.Blanchette, F.; Day, R.; Dong, W.; Laprise, M.-H.; Dubois, C. M. : TGF-beta-1 regulates gene expression of its own converting enzyme furin. J. Clin. Invest. 99: 1974-1983, 1997.
[0016972]7560.Copeland, N. G.; Gilbert, D. J.; Chretien, M.; Seidah, N. G.; Jenkins, N. A.: Regional localization of three convertases, PC1 (Nec-1), PC2 (Nec-2), and furin (Fur), on mouse chromosomes. Genomics 13: 1356-1358, 1992.
[0016973]7561.Dubois, C. M.; Laprise, M.-H.; Blanchette, F.; Gentry, L. E.; Leduc, R.: Processing of transforming growth factor beta-1 precursor by human furin convertase. J. Biol. Chem. 270: 10618-10624, 1995.
[0016974]7562.Hendy, G. N.; Bennett, H. P. J.; Gibbs, B. F.; Lazure, C.; Day, R.; Seidah, N. G.: Proparathyroid hormone is preferentially cleaved to parathyroid hormone by the prohormone convertase furin: a mass spectrometric study. J. Biol. Chem. 270: 9517-9525, 1995.
[0016975]7563.Mbikay, M.; Seidah, N. G.; Chretien, M.; Simpson, E. M.: Chromosomal assignment of the genes for proprotein convertases PC4, PC5, and PACE 4 in mouse and human. Genomics 26: 123-129, 1995.
[0016976]7564.Roebroek, A. J. M.; Schalken, J. A.; Leunissen, J. A. M.; Onnekink, C.; Bloemers, H. P. J.; Van de Ven, W. J. M.: Evolutionary conserved close linkage of the c-fes/fps proto-oncogene and genetic sequences encoding a receptor-like protein. EMBO J. 5: 2197-2202, 1986.
[0016977]7565.Schalken, J. A.; Roebroek, A. J. M.; Oomen, P. P. C. A.; Wagenaar, S. S.; Debruyne, F. M. J.; Bloemers, H. P. J.; Van de Ven, W. J. M. : FUR gene expression as a discriminating marker for small cell and nonsmall cell lung carcinomas. J. Clin. Invest. 80: 1545-1549, 1987.
[0016978]7566.Seidah, N. G.; Mattei, M. G.; Gaspar, L.; Benjannet, S.; Mbikay, M.; Chretien, M.: Chromosomal assignments of the genes for neuroendocrine convertase PC1 (NEC1) to human 5q15-21, neuroendocrine convertase PC2 (NEC2) to human 20p11.1-11.2, and furin (mouse 7[D1-E2] region). Genomics 11: 103-107, 1991.
[0016979]7567.Curtis, E. J.; Fraser, F. C.; Warburton, D.: Congenital cleft lip and palate. Am. J. Dis. Child. 102: 853-857, 1961.
[0016980]7568.Awdeh, Z. L.; Alper, C. A.: Inherited structural polymorphism of the fourth component of human complement. Proc. Nat. Acad. Sci. 77: 3576-3580, 1980.
[0016981]7569.Awdeh, Z. L.; Ochs, H. D.; Alper, C. A.: Genetic analysis of C4 deficiency. J. Clin. Invest. 67: 260-263, 1981.
[0016982]7570.Brade, V.; Hall, R. E.; Colten, H. R.: Biosynthesis of pro-C3, a precursor of the third component of complement. J. Exp. Med. 146: 759-765, 1977.
[0016983]7571.Carroll, M. C.; Campbell, R. D.; Bentley, D. R.; Porter, R. R. : A molecular map of the human major histocompatibility complex class III region linking complement genes C4, C2 and factor B. Nature 307: 237-241, 1984.
[0016984]7572.Carroll, M. C.; Porter, R. R.: Cloning of a human complement component C4 gene. Proc. Nat. Acad. Sci. 80: 264-267, 1983.
[0016985]7573.Chan, A. C.; Mitchell, K. R.; Munns, T. W.; Karp, D. R.; Atkinson, J. P.: Identification and partial characterization of the secreted form of the fourth component of human complement: evidence that it is different from major plasma form. Proc. Nat. Acad. Sci. 80: 268-272, 1983.
[0016986]7574.Cream, J. J.; Olaisen, B.; Teisberg, P.; Soler, A. V.; Thompson, R. A.: Genetic basis of acquired C4 deficiency. Clin. Genet. 16: 297-300, 1979.
[0016987]7575.Cunningham-Rundles, C.; Dupont, B.; Jersild, C.; Tegoli, C.; Whitsett, C.; Good, R. A.: Are HLA and Chido related antigenic groups? Transplant. Proc. 9: 33-38, 1977.
[0016988]7576.Cunningham-Rundles, C.; Tegoli, J.; Dupont, B.; Whitsett, C.; Good, R. A.: Chemical studies on the Chido antigen. Transplant. Proc. 9: 647-652, 1977.
[0016989]7577.Curman, B.; Ostberg, L.; Sandberg, L.; Malmheden-Erikkson, I.; Stalenheim, G.; Rask, L.; Peterson, P. A.: H-2 linked Ss protein is C-4 component of complement. Nature 258: 243-245, 1975.
[0016990]7578.Ellman, L.; Green, I.; Frank, M.: Genetically controlled total deficiency of the fourth component of complement in the guinea pig. Science 170: 74-75, 1970.
[0016991]7579.Fontaine, M.; Daveau, M.; Lebreton, J. P.: A common antigenic determinant on human C4b and C3b. Molec. Immun. 17: 1075-1078, 1980.
[0016992]7580.Giles, C. M.: A new genetic variant for Chido. Vox Sang. 46: 149-156, 1984.
[0016993]7581.Hall, R. E.; Colten, H. R.: Genetic defect in biosynthesis of the precursor form of the fourth component of complement. Science 199: 69-70, 1978.
[0016994]7582.Hall, R. E.; Colten, H. R.: Cell-free synthesis of the fourth component of guinea pig complement (C4): identification of a precursor of serum C4 (pro-C4). Proc. Nat. Acad. Sci. 74: 1707-1710, 1977.
[0016995]7583.Harris, J. P.; Tegoli, J.; Swanson, J.; Fisher, N.; Gavin, J.; Noades, J.: A nebulous antibody responsible for cross-matching difficulties (Chido). Vox Sang. 12: 140-142, 1967.
[0016996]7584.Hobart, M. J.; Lachmann, P. J.: Allotypes of complement components in man. Transplant. Rev. 32: 26-42, 1976.
[0016997]7585.Kramer, J.; Fulop, T.; Rajczy, K.; Ahn Tuan, N.; Fust, G.: A marked drop in the incidence of the null allele of the B gene of the fourth component of complement (C4B*Q0) in elderly subjects: C4B*Q0 as a probable negative selection factor for survival. Hum. Genet. 86: 595-598, 1991.
[0016998]7586.Kronke, M.; Geezy, A. F.; Hadding, U.; Bitter-Suermann, D.: Linkage of C4 and C4 deficiency to Bf and GPLA. Immunogenetics 5: 461-466, 1977.
[0016999]7587.Lachmann, P. J.; Grennan, D.; Martin, A.; Demant, P.: Identification of Ss protein as murine C4. Nature 258: 242-243, 1975.
[0017000]7588.Lhotta, K.; Schlogl, A.; Uring-Lambert, B.; Kronenberg, F.; Konig, P.: Complement C4 phenotypes in patients with end-stage renal disease. Nephron 72: 442-446, 1996.
[0017001]7589.Mascart-Lemone, F.; Hauptmann, G.; Goetz, J.; Duchateau, J.; Delespesse, G.; Vray, B.; Dab, I.: Genetic deficiency of C4 presenting with recurrent infections and a SLE-like disease: genetic and immunologic studies. Am. J. Med. 75: 295-304, 1983.
[0017002]7590.Meo, T.; Krasteff, T.; Shreffler, D. C.: Immunochemical characterization of murine H-2 controlled Ss (serum substance) protein through identification of its human homologue as the fourth component of complement. Proc. Nat. Acad. Sci. 72: 4536-4540, 1975.
[0017003]7591.Middleton, J.; Crookston, M. C.: Chido-substance in plasma. Vox Sang. 23: 256-261, 1972.
[0017004]7592.Middleton, J.; Crookston, M. C.; Falk, J. A.; Robson, E. B.; Cook, P. J. L.; Batchelor, J. R.; Bodmer, J.; Ferrara, G. B.; Festenstein, J.; Harris, H.; Kissmeyer-Nielsen, F.; Lawler, S. D.; Sachs, J. A.; Wolf, E.: Linkage of Chido and HL-A. Tissue Antigens 4: 366-373, 1974.
[0017005]7593.O'Neill, G. J.: The genetic control of Chido and Rodgers blood group substances. Seminars Hemat. 18: 32-38, 1981.
[0017006]7594.O'Neill, G. J.; Yang, S. Y.; Dupont, B.: Two HLA-linked loci controlling the fourth component of human complement. Proc. Nat. Acad. Sci. 75: 5165-5169, 1978.
[0017007]7595.O'Neill, G. J.; Yang, S. Y.; Dupont, B.: Chido and Rodgers blood groups: relationships to C4 and HLA. Transplant. Proc. 10: 749-751, 1978.
[0017008]7596.O'Neill, G. J.; Yang, S. Y.; Tegoli, J.; Berger, R.; Dupont, B. : Chido and Rodgers blood groups are distinct antigenic components of human C4. Nature 273: 668-670, 1978.
[0017009]7597.Ochs, H. D.; Rosenfeld, S. I.; Thomas, E. D.; Giblett, E. R.; Alper, C. A.; Dupont, B.; Schaller, J. G.; Gilliland, B. C.; Hansen, J. A.; Wedgwood, R. J.: Linkage between the gene (or genes) controlling synthesis of the fourth component of complement and the major histocompatibility complex. New Eng. J. Med. 296: 470-475, 1977.
[0017010]7598.Olaisen, B.; Teisberg, P.; Nordhagen, R.; Michaelsen, T.; Gedde-Dahl, T., Jr.: Human complement C4 locus is duplicated on some chromosomes. Nature 279: 736-737, 1979.
[0017011]7599.Partanen, J.; Kere, J.; Wessberg, S.; Koskimies, S.: Determination of deletion sizes in the MHC-linked complement C4 and steroid 21-hydroxylase genes by pulsed-field gel electrophoresis. Genomics 5: 345-349, 1989.
[0017012]7600.Partanen, J.; Koskimies, S.; Johansson, E.: C4 null phenotypes among lupus erythematosus patients are predominantly the result of deletions covering C4 and closely linked 21-hydroxylase A genes. J. Med. Genet. 25: 387-391, 1988.
[0017013]7601.Petersen, G. B.; Sorensen, I. J.; Buskjaer, L.; Lamm, L. U.: Genetic studies of complement C4 in man. Hum. Genet. 53: 31-36, 1979.
[0017014]7602.Davidson, D.: The function and evolution of Msx genes: pointers and paradoxes. Trends Genet. 11: 405-411, 1995.
[0017015]7603.Jabs, E. W.; Muller, U.; Li, X.; Ma, L.; Luo, W.; Haworth, I. S.; Klisak, I.; Sparkes, R.; Warman, M. L.; Mulliken, J. B.; Snead, M. L.; Maxson, R.: A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis. Cell 75: 443-450, 1993.
[0017016]7604.Li, X.; Ma, L.; Snead, M.; Haworth, I.; Sparkes, R.; Jackson, C.; Warman, M.; Mulliken, J.; Maxson, R.; Muller, U.; Jabs, E.: A mutation in the homeodomain of the MSX2 gene in a family affected with craniosynostosis, Boston type. (Abstract) Am. J. Hum. Genet. 53 (suppl.): A213 only, 1993.
[0017017]7605.Liu, Y. H.; Kundu, R.; Wu, L.; Luo, W.; Ignelzi, M. A., Jr.; Snead, M. L.; Maxson, R. E., Jr.: Premature suture closure and ectopic cranial bone in mice expressing Msx2 transgenes in the developing skull. Proc. Nat. Acad. Sci. 92: 6137-6141, 1995.
[0017018]7606.Ma, L.; Golden, S.; Wu, L.; Maxson, R.: The molecular basis of Boston-type craniosynostosis: the pro148-to-his mutation in the N-terminal arm of the MSX2 homeodomain stabilizes DNA binding without altering nucleotide sequence preferences. Hum. Molec. Genet. 5: 1915-1920, 1996.
[0017019]7607.Muller, U.; Warman, M. L.; Mulliken, J. B.; Weber, J. L.: Assignment of a gene locus involved in craniosynostosis to chromosome 5qter. Hum. Molec. Genet. 2: 119-122, 1993.
[0017020]7608.Satokata, I.; Ma, L.; Ohshima, H.; Bei, M.; Woo, I.; Nishizawa, K.; Maeda, T.; Takano, Y.; Uchiyama, M.; Heaney, S.; Peters, H.; Tang, Z.; Maxson, R.; Maas, R.: Msx2 deficiency in mice causes pleiotropic defects in bone growth and ectodermal organ formation. Nature Genet. 24: 391-395, 2000.
[0017021]7609.Takahashi, C.; Akiyama, N.; Matsuzaki, T.; Takai, S.; Kitayama, H.; Noda, M.: Characterization of a human MSX-2 cDNA and its fragment isolated as a transformation suppressor gene against v-Ki-ras oncogene. Oncogene 12: 2137-2146, 1996.
[0017022]7610.Warman, M. L.; Mulliken, J. B.; Hayward, P. G.; Muller, U.: Newly recognized autosomal dominant disorder with craniosynostosis. Am. J. Med. Genet. 46: 444-449, 1993.
[0017023]7611.Wilkie, A. O. M.; Tang, Z.; Elanko, N.; Walsh, S.; Twigg, S. R. F.; Hurst, J. A.; Wall, S. A.; Chrzanowska, K. H.; Maxson, R. E., Jr.: Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification. Nature Genet. 24: 387-390, 2000.
[0017024]7612.Rius, C.; Smith, J. D.; Almendro, N.; Langa, C.; Botella, L. M.; Marchuk, D. A.; Vary, C. P. H.; Bernabeu, C.: Cloning of the promoter region of human endoglin, the target gene for hereditary hemorrhagic telangiectasia type 1. Blood 92: 4677-4690, 1998.
[0017025]7613.Shovlin, C. L.; Hughes, J. M. B.; Scott, J.; Seidman, C. E.; Seidman, J. G.: Characterization of endoglin and identification of novel mutations in hereditary hemorrhagic telangiectasia. Am. J. Hum. Genet. 61: 68-79, 1997.
[0017026]7614.Kanai, Y.; Hediger, M. A.: Primary structure and functional characterization of a highaffinity glutamate transporter. Nature 360: 467-471, 1992.
[0017027]7615.Lin, C. G.; Orlov, I.; Ruggiero, A. M.; Dykes-Hoberg, M.; Lee, A.; Jackson, M.; Rothstein, J. D.: Modulation of the neuronal glutamate transporter EAAC1 by the interacting protein GTRAP3-18. Nature 410: 84-88, 2001.
[0017028]7616.Smith, C. P.; Weremowicz, S.; Kanai, Y.; Stelzner, M.; Morton, C. C.; Hediger, M. A.: Assignment of the gene coding for the human high-affinity glutamate transporter EAAC1 to 9p24: potential role in dicarboxylic aminoaciduria and neurodegenerative disorders. Genomics 20: 335-336, 1994.
[0017029]7617.Ahn, J.; Ludecke, H.-J.; Lindow, S.; Horton, W. A.; Lee, B.; Wagner, M. J.; Horsthemke, B.; Wells, D. E.: Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1). Nature Genet. 11: 137-143, 1995.
[0017030]7618.Bakker, E.; Smoor, M. A.; Maat, A.; van Haeringen, A.; van de Kamp, J. J. P.; van Ommen, G. J. B.: Hereditary multiple exostoses in two Dutch families, LGS region excluded. (Abstract) Human Genome Mapping Workshop 93 15, 1993.
[0017031]7619.Beals, R.; Weber, C.; Wright, A.; Rowe, S.; Lovrien, E. W.: Multiple exostosis may be loosely linked to ABO. (Abstract) Cytogenet. Cell Genet. 37: 416-417, 1984.
[0017032]7620.Beighton, P.; Sujansky, E.; Patzak, B.; Portele, K. A.: Genetic skeletal dysplasias in the Museum of Pathological Anatomy, Vienna. Am. J. Med. Genet. 47: 843-847, 1993.
[0017033]7621.Blanton, S. H.; Hogue, D.; Wagner, M.; Wells, D.; Young, I. D.; Hecht, J. T.: Hereditary multiple exostoses: confirmation of linkage to chromosomes 8 and 11. Am. J. Med. Genet. 62: 150-159, 1996.
[0017034]7622.Bovee, J. V. M. G.; Cleton-Jansen, A.-M.; Wuyts, W.; Caethoven, G.; Taminiau, A. H. M.; Bakker, E.; Van Hul, W.; Cornelisse, C. J.; Hogendoorn, P. C. W.: EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas. Am. J. Hum. Genet. 65: 689-698, 1999.
[0017035]7623.Brooks, A. P.; Wynne-Davies, R.: A family with diaphyseal aclasis and peripheral dysostosis. J. Med. Genet. 17: 277-280, 1980.
[0017036]7624.Buhler, E. M.; Malik, N. J.: The tricho-rhino-phalangeal syndrome(s): chromosome 8 long arm deletion: is there a shortest region of overlap between reported cases? TRP I and TRP II syndromes: are they separate entities? (Editorial) Am. J. Med. Genet. 19: 113-119, 1984.
[0017037]7625.Buur, T.; Morch, M. M.: Hereditary multiple exostoses with spinal cord compression. (Letter) J. Neurol. Neurosurg. Psychiat. 46: 96-98, 1983.
[0017038]7626.Cheung, P. K.; McCormick, C.; Crawford, B. E.; Esko, J. D.; Tufaro, F.; Duncan, G.: Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity. Am. J. Hum. Genet. 69: 55-66, 2001.
[0017039]7627.Cook, A.; Raskind, W.; Blanton, S. H.; Pauli, R. M.; Gregg, R. G.; Francomano, C. A.; Puffenberger, E.; Conrad, E. U.; Schmale, G.; Schellenberg, G.; Wijsman, E.; Hecht, J. T.; Wells, D.; Wagner, M. J.: Genetic heterogeneity in families with hereditary multiple exostoses. Am. J. Hum. Genet. 53: 71-79, 1993.
[0017040]7628.Del-Rio, R.; Navarra, E.; Ferrando, J.; Mascaro, J. M.: Multiple exostoses syndrome presenting as nail malalignment and longitudinal dystrophy of fingers. (Letter) Arch. Derm. 128: 1655-1656, 1992.
[0017041]7629.Francannet, C.; Cohen-Tanugi, A.; Le Merrer, M.; Munnich, A.; Bonaventure, J.; Legeai-Mallet, L.: Genotype-phenotype correlation in hereditary multiple exostoses. J. Med. Genet. 38: 430-434, 2001.
[0017042]7630.Gardner, E. J.; Shupe, J. L.; Leone, N. C.; Olson, A. E.: Hereditary multiple exostosis: a comparative genetic evaluation in man and horses. J. Hered. 66: 318-322, 1975.
[0017043]7631.Giedion, A.: Personal Communication. Zurich, Switzerland 1972.
[0017044]7632.Hall, C. R.; Cole, W. G.; Haynes, R.; Hecht, J. T.: Reevaluation of a genetic model for the development of exostosis in hereditary multiple exostosis. Am. J. Med. Genet. 112: 1-5, 2002.
[0017045]7633.Hall, J. G.; Wilson, R. D.; Kalousek, D.; Beauchamp, R.: Familial multiple exostoses--no chromosome 8 deletion observed. Am. J. Med. Genet. 22: 639-640, 1985.
[0017046]7634.Hamers, A.; Peeters, G.; Jongbloet, P.; Geraedts, J.: Microcytogenetics of chromosome 8q. (Abstract) 8th Int. Chrom. Conf., Lubeck Abstract-8, 9/1983.
[0017047]7635.Hecht, J. T.; Hogue, D.; Strong, L. C.; Hansen, M. F.; Blanton, S. H.; Wagner, M.: Hereditary multiple exostosis and chondrosarcoma: linkage to chromosome 11 and loss of heterozygosity for EXT-linked markers on chromosomes 11 and 8. Am. J. Hum. Genet. 56: 1125-1131, 1995.
[0017048]7636.Hecht, J. T.; Hogue, D.; Wang, Y.; Blanton, S. H.; Wagner, M.; Strong, L. C.; Raskind, W.; Hansen, M. F.; Wells, D.: Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies. Am. J. Hum. Genet. 60: 80-86, 1997.
[0017049]7637.Lacey, S. W.; Sanders, J. M.; Rothberg, K. G.; Anderson, R. G. W.; Kamen, B. A.: Complementary DNA for the folate binding protein correctly predicts anchoring to the membrane by glycosyl-phosphatidylinositol. J. Clin. Invest. 84: 715-720, 1989.
[0017050]7638.Istvan, E. S.; Deisenhofer, J.: Structural mechanism for statin inhibition of HMG-CoA reductase. Science 292: 1160-1164, 2001.
[0017051]7639.Piedrahita, J. A.; Oetama, B.; Bennett, G. D.; van Waes, J.; Kamen, B. A.; Richardson, J.; Lacey, S. W.; Anderson, R. G. W.; Finnell, R. H.: Mice lacking the folic acid-binding protein Folbp1 are defective in early embryonic development. Nature Genet. 23: 228-232, 1999.
[0017052]7640.Shaw, G. M.; Jensvold, N. G.; Wasserman, C. R.; Lammer, E. J. : Epidemiologic characteristics of phenotypically distinct neural tube defects among 0.7 million California births, 1983-1987. Teratology 49: 143-149, 1994.
[0017053]7641.Werler, M. M.; Shapiro, S.; Mitchell, A. A.: Periconceptional folic acid exposure and risk of occurrent neural tube defects. J.A.M.A. 269: 1257-1261, 1993.
[0017054]7642.Sipila, K.; Aula, P.: Database for the mutations of the Finnish disease heritage. Hum. Mutat. 19: 16-22, 2002.
[0017055]7643.Rimokh, R.; Gadoux, M.; Bertheas, M.-F.; Berger, F.; Garoscio, M.; Deleage, G.; Germain, D.; Magaud, J.-P.: FVT-1, a novel human transcription unit affected by variant translocation t(2;18)(p11;q21) of follicular lymphoma. Blood 81: 136-142, 1993.
[0017056]7644.Tortoriello, D. V.; Sidis, Y.; Holtzman, D. A.; Holmes, W. E.; Schneyer, A. L.: Human follistatin-related protein: a structural homologue of follistatin with nuclear localization. Endocrinology 142: 3426-3434, 2001.
[0017057]7645.Lee, H.-K.; Barbarosie, M.; Kameyama, K.; Bear, M. F.; Huganir, R. L.: Regulation of distinct AMPA receptor phosphorylation sites during bidirectional synaptic plasticity. Nature 405: 955-959, 2000.
[0017058]7646.Mack, V.; Burnashev, N.; Kaiser, K. M. M.; Rozov, A.; Jensen, V.; Hvalby, O.; Seeburg, P. H.; Sakmann, B.; Sprengel, R.: Conditional restoration of hippocampal synaptic potentiation in GluR-A-deficient mice. Science 292: 2501-2504, 2001.
[0017059]7647.Puckett, C.; Gomez, C. M.; Korenberg, J. R.; Tung, H.; Meier, T. J.; Chen, X. N.; Hood, L.: Molecular cloning and chromosomal localization of one of the human glutamate receptor genes. Proc. Nat. Acad. Sci. 88: 7557-7561, 1991.
[0017060]7648.Shi, S.-H.; Hayashi, Y.; Petralla, R. S.; Zaman, S. H.; Wenthold, R. J.; Svoboda, K.; Malinow, R.: Rapid spine delivery and redistribution of AMPA receptors after synaptic NMDA receptor activation. Science 284: 1811-1816, 1999.
[0017061]7649.Zamanillo, D.; Sprengel, R.; Hvalby, O.; Jensen, V.; Burnashev, N.; Rozov, A.; Kaiser, K. M. M.; Koster, H. J.; Borchardt, T.; Worley, P.; Lubke, J.; Frotscher, M.; Kelly, P. H.; Sommer, B.; Andersen, P.; Seeburg, P. H.; Sakmann, B.: Importance of AMPA receptors for hippocampal synaptic plasticity but not for spatial learning. Science 284: 1805-1811, 1999.
[0017062]7650.Hardingham, G. E.; Fukunaga, Y.; Bading, H.: Extrasynaptic NMDARs oppose synaptic NMDARs by triggering CREB shut-off and cell death pathways. Nature Neurosci. 5: 405-414, 2002.
[0017063]7651.Takano, H.; Onodera, O.; Tanaka, H.; Mori, H.; Sakimura, K.; Hori, T.; Kobayashi, H.; Mishina, M.; Tsuji, S.: Chromosomal localization of the epsilon-1, epsilon-3, and zeta-1 subunit genes of the human NMDA receptor channel. Biochem. Biophys. Res. Commun. 197: 922-926, 1993.
[0017064]7652.Aral, B.; Schlenzig, J.-S.; Liu, G.; Kamoun, P.: Database cloning human delta-1-pyrroline-5-carboxylate synthetase (P5CS) cDNA: a bifunctional enzyme catalyzing the first two steps in proline biosynthesis. C. R. Acad. Sci. III 319: 171-178, 1996.
[0017065]7653.Baumgartner, M. R.; Hu, C. A.; Almashanu, S.; Steel, G.; Obie, C.; Aral, B.; Rabier, D.; Kamoun, P.; Saudubray, J.-M.; Valle, D. : Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta-1-pyrroline-5-carboxylate synthase. Hum. Molec. Genet. 9: 2853-2858, 2000.
[0017066]7654.Hu, C. A.; Lin, W.-W.; Obie, C.; Valle, D.: Molecular enzymology of mammalian delta-1-pyrroline-5-carboxylate synthase. J. Biol. Chem. 274: 6754-6762, 1999.
[0017067]7655.Meera Khan, P.; Doppert, B. A.; Hagemeijer, A.; Westerveld, A. : The human loci for phosphopyruvate hydratase and guanylate kinase are syntenic with the PGD-PGM1 linkage group in man-Chinese hamster somatic cell hybrids. Cytogenet. Cell Genet. 13: 130-131, 1974.
[0017068]7656.Berkovitz, G. D.; Guerami, A.; Brown, T. R.; MacDonald, P. C.; Migeon, C. J.: Familial gynecomastia with increased extraglandular aromatization of plasma carbon(19)-steroids. J. Clin. Invest. 75: 1763-1769, 1985.
[0017069]7657.Itoh, H.; Toyama, R.; Kozasa, T.; Tsukamoto, T.; Matsuoka, M.; Kaziro, Y.: Presence of three distinct molecular species of G(i) protein alpha subunit: structure of rat cDNAs and human genomic DNAs. J. Biol. Chem. 263: 6656-6664, 1988.
[0017070]7658.Jiang, M.; Gold, M. S.; Boulay, G.; Spicher, K.; Peyton, M.; Brabet, P.; Srinivasan, Y.; Rudolph, U.; Ellison, G.; Birnbaumer, L.: Multiple neurological abnormalities in mice deficient in the G protein G(o). Proc. Nat. Acad. Sci. 95: 3269-3274, 1998.
[0017071]7659.Kroll, S. D.; Chen, J.; De Vivo, M.; Carty, D. J.; Buku, A.; Premont, R. T.; Iyengar, R.: The Q205LGo-alpha subunit expressed in NIH-3T3 cells induces transformation. J. Biol. Chem. 267: 23183-23188, 1992.
[0017072]7660.Murtagh, J. J., Jr.; Eddy, R.; Shows, T. B.; Moss, J.; Vaughan, M.: Different forms of Go alpha mRNA arise by alternative splicing of transcripts from a single gene on human chromosome 16. Molec. Cell. Biol. 11: 1146-1155, 1991.
[0017073]7661.Ram, P. T.; Horvath, C. M.; Iyengar, R.: Stat3-mediated transformation of NIH-3T3 cells by the constitutively active Q205L G-alpha(O) protein. Science 287: 142-144, 2000.
[0017074]7662.Strathmann, M.; Wilkie, T. M.; Simon, M. I.: Alternative splicing produces transcripts encoding two forms of the alpha subunit of GTP-binding protein G(o). Proc. Nat. Acad. Sci. 87: 6477-6481, 1990.
[0017075]7663.Tsukamoto, T.; Toyama, R.; Itoh, H.; Kozasa, T.; Matsuoka, M.; Kaziro, Y.: Structure of the human gene and two rat cDNAs encoding the alpha chain of GTP-binding regulatory protein G(o): two different mRNAs are generated by alternative splicing. Proc. Nat. Acad. Sci. 88: 2974-2978, 1991.
[0017076]7664.Valenzuela, D.; Han, X.; Mende, U.; Fankhauser, C.; Mashimo, H.; Huang, P.; Pfeffer, J.; Neer, E. J.; Fishman, M. C.: G-alpha-o is necessary for muscarinic regulation of Ca(2+) channels in mouse heart. Proc. Nat. Acad. Sci. 94: 1727-2732, 1997.
[0017077]7665.Belluscio, L.; Gold, G. H.; Nemes, A.; Axel, R.: Mice deficient in G(olf) are anosmic. Neuron 20: 69-81, 1998.
[0017078]7666.Buck, L. B.: Information coding in the mammalian olfactory system. Cold Spring Harbor Symp. Quant. Biol. 61: 147-155, 1996.
[0017079]7667.Jones, D. T.; Reed, R. R.: Golf: an olfactory neuron specific G protein involved in odorant signal transduction. Science 244: 790-795, 1989.
[0017080]7668.Lindgren, V.; Luskey, K. L.; Russell, D. W.; Francke, U.: Human genes involved in cholesterol metabolism: chromosomal mapping of the loci for the low density lipoprotein receptor and 3-hydroxy-3-methylglutaryl-coenzyme A reductase with cDNA probes. Proc. Nat. Acad. Sci. 82: 8567-8571, 1985.
[0017081]7669.Luskey, K. L.: Conservation of promoter sequence but not complex intron splicing pattern in human and hamster genes for 3-hydroxy-3-methylglutaryl coenzyme A reductase. Molec. Cell. Biol. 7: 1881-1893, 1987.
[0017082]7670.Mohandas, T.; Heinzmann, C.; Sparkes, R. S.; Wasmuth, J.; Edwards, P.; Lusis, A. J.: Assignment of human 3-hydroxy-3-methylglutaryl coenzyme A reductase gene to q13-q23 region of chromosome 5. Somat. Cell Molec. Genet. 12: 89-94, 1986.
[0017083]7671.Osborne, T. F.; Goldstein, J. L.; Brown, M. S.: 5-prime end of HMG CoA reductase gene contains sequences responsible for cholesterol-mediated inhibition of transcription. Cell 42: 203-212, 1985.
[0017084]7672.Van Doren, M.; Broihier, H. T.; Moore, L. A.; Lehmann, R.: HMG-CoA reductase guides migrating primordial germ cells. Nature 396: 466-469, 1998.
[0017085]7673.Ayte, J.; Gil-Gomez, G.; Haro, D.; Marrero, P. F.; Hegardt, F. G.: Rat mitochondrial and cytosolic 3-hydroxy-3-methylglutaryl-CoA synthases are encoded by two different genes. Proc. Nat. Acad. Sci. 87: 3874-3878, 1990.
[0017086]7674.Gil, G.; Smith, J. R.; Goldstein, J. L.; Brown, M. S.: Optional exon in the 5-primeuntranslated region of 3-hydroxy-3-methylglutaryl coenzyme A synthase gene: conserved sequence and splicing pattern in humans and hamsters. Proc. Nat. Acad. Sci. 84: 1863-1866, 1987.
[0017087]7675.Leonard, S.; Arbogast, D.; Geyer, D.; Jones, C.; Sinensky, M.: Localization of the gene encoding 3-hydroxy-3-methylglutaryl-coenzyme A synthase to human chromosome 5. Proc. Nat. Acad. Sci. 83: 2187-2189, 1986.
[0017088]7676.Mehrabian, M.; Callaway, K. A.; Clarke, C. F.; Tanaka, R. D.; Greenspan, M.; Lusis, A. J.; Sparkes, R. S.; Mohandas, T.; Edmond, J.; Fogelman, A. M.; Edwards, P. A.: Regulation of rat liver 3-hydroxy-3-methylglutaryl coenzyme A synthase and the chromosomal localization of the human gene. J. Biol. Chem. 261: 16249-16255, 1986.
[0017089]7677.Rokosz, L. L.; Boulton, D. A.; Butkiewicz, E. A.; Sanyal, G.; Cueto, M. A.; Lachance, P. A.; Hermes, J. D.: Human cytoplasmic 3-hydroxy-3-methylglutaryl coenzyme A synthase: expression, purification, and characterization of recombinant wild-type and cys129 mutant enzymes. Arch. Biochem. Biophys. 312: 1-13, 1994.
[0017090]7678.Russ, A. P.; Ruzicka, V.; Maerz, W.; Appelhans, H.; Gross, W.: Amplification and direct sequencing of a cDNA encoding human cytosolic 3-hydroxy-3-methylglutaryl-coenzyme A synthase. Biochim. Biophys. Acta 1132: 329-331, 1992.
[0017091]7679.Hennies, H.-C.; Hagedorn, M.; Reis, A.: Palmoplantar keratoderma in association with carcinoma of the esophagus maps to chromosome 17q distal to the keratin gene cluster. Genomics 29: 537-540, 1995.
[0017092]7680.Howel-Evans, W.; McConnell, R. B.; Clarke, C. A.; Sheppard, P. M.: Carcinoma of the oesophagus with keratosis palmaris et plantaris (tylosis): a study of two families. Quart. J. Med. 27: 413-429, 1958.
[0017093]7681.Hennekam, R. C. M.: Hereditary multiple exostoses. J. Med. Genet. 28: 262-266, 1991.
[0017094]7682.Ho, S. U.; Lipton, H. L.: Hereditary multiple exostoses with myelopathy. Arch. Neurol. 36: 714, 1979.
[0017095]7683.Hogue, D: Personal Communication. Houston, Tex 2/6/1998.
[0017096]7684.Knudson, A. G., Jr.: Mutation and cancer: statistical study of retinoblastoma. Proc. Nat. Acad. Sci. 68: 820-823, 1971.
[0017097]7685.Krooth, R. S.; Macklin, M. T.; Hilbish, T. F.: Diaphysial aclasis (multiple exostoses) on Guam. Am. J. Hum. Genet. 13: 340-347, 1961.
[0017098]7686.Hou, J.; Parrish, J.; Ludecke, H.-J.; Sapru, M.; Wang, Y.; Chen, W.; Hill, A.; Siegel-Bartelt, J.; Northrup, H.; Elder, F. F. B.; Chinault, C.; Horsthemke, B.; Wagner, M. J.; Wells, D. E.: A 4-megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1: use in refining the location of the trichorhinophalangeal syndrome and multiple exostoses genes (TRPS1 and EXT1). Genomics 29: 87-97, 1995.
[0017099]7687.Legeai-Mallet, L.; Margaritte-Jeannin, P.; Lemdani, M.; Le Merrer, M.; Plauchu, H.; Maroteaux, P.; Munnich, A.; Clerget-Darpoux, F.: An extension of the admixture test for the study of genetic heterogeneity in hereditary multiple exostoses. Hum. Genet. 99: 298-302, 1997.
[0017100]7688.Legeai-Mallet, L.; Munnich, A.; Maroteaux, P.; Le Merrer, M.: Incomplete penetrance and expressivity skewing in hereditary multiple exostoses. Clin. Genet. 52: 12-16, 1997.
[0017101]7689.Le Merrer, M.; Ben Othmane, K.; Stanescu, V.; Lyonnet, S.; Van Maldergem, L.; Royer, G.; Munnich, A.; Maroteaux, P.: The gene for hereditary multiple exostoses does not map to the Langer-Giedion region (8q23-q24). J. Med. Genet. 29: 713-715, 1992.
[0017102]7690.Lin, X.; Wells, D.: Isolation of the mouse cDNA homologous to the human EXT1 gene responsible for hereditary multiple exostoses. DNA Seq. 7: 199-202, 1997.
[0017103]7691.Lohmann, D. R.; Brandt, B.; Hopping, W.; Passarge, E.; Horsthemke, B.: Spectrum of small length germline mutations in the RB1 gene. Hum. Molec. Genet. 3: 2187-2193, 1994.
[0017104]7692.Lohmann, D. R.; Buiting, K.; Ludecke, H.-J.; Horsthemke, B.: The murine Ext1 gene shows a high level of sequence similarity with its human homologue and is part of a conserved linkage group on chromosome 15. Cytogenet. Cell Genet. 76: 164-166, 1997.
[0017105]7693.Ludecke, H.-J.; Ahn, J.; Lin, X.; Hill, A.; Wagner, M. J.; Schomburg, L.; Horsthemke, B.; Wells, D. E.: Genomic organization and promoter structure of the human EXT1 gene. Genomics 40: 351-354, 1997.
[0017106]7694.Ludecke, H.-J.; Wagner, M. J.; Nardmann, J.; La Pillo, B.; Parrish, J. E.; Willems, P. J.; Haan, E. A.; Frydman, M.; Hamers, G. J. H.; Wells, D. E.; Horsthemke, B.: Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome. Hum. Molec. Genet. 4: 31-36, 1995.
[0017107]7695.Matsuno, T.; Ichioka, Y.; Yagi, T.; Ishii, S.: Spindle-cell sarcoma in patients who have osteochondromatosis: a report of two cases. J. Bone Joint Surg. 70A: 137-141, 1988.
[0017108]7696.McCormick, C.; Duncan, G.; Goutsos, K. T.; Tufaro, F.: The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate. Proc. Nat. Acad. Sci. 97: 668-673, 2000.
[0017109]7697.McCormick, C.; Leduc, Y.; Martindale, D.; Mattison, K.; Esford, L. E.; Dyer, A. P.; Tufaro, F.: The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate. Nature Genet. 19: 158-161, 1998.
[0017110]7698.Mertens, F.; Rydholm, A.; Kreicbergs, A.; Willen, H.; Jonsson, K.; Heim, S.; Mitelman, F.; Mandahl, N.: Loss of chromosome band 8q24 in sporadic osteocartilaginous exostoses. Genes Chromosomes Cancer 9: 8-12, 1994.
[0017111]7699.Morgan, J. P.; Carlson, W. D.; Adams, O. R.: Hereditary multiple exostosis in the horse. J. Am. Vet. Med. Assoc. 140: 1320-1322, 1962.
[0017112]7700.Ochsner, P. E.: Zum Problem der neoplastischen Entartung bei multipen kartilaginaren Exostosen. Z. Orthop. 116: 369-378, 1978.
[0017113]7701.Ogle, R. F.; Dalzell, P.; Turner, G.; Wass, D.; Yip, M.-Y.: Multiple exostoses in a patient with t(8;11)(q24.11;p15.5). J. Med. Genet. 28: 881-883, 1991.
[0017114]7702.Peterson, H. A.: Multiple hereditary osteochondromata. Clin. Orthop. 239: 222-230, 1989.
[0017115]7703.Philippe, C.; Porter, D. E.; Emerton, M. E.; Wells, D. E.; Simpson, A. H. R. W.; Monaco, A. P.: Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses. Am. J. Hum. Genet. 61: 520-528, 1997.
[0017116]7704.Raskind, W. H.; Conrad, E. U.; Chansky, H.; Matsushita, M.: Loss of heterozygosity in chondrosarcomas for markers linked to hereditary multiple exostoses loci on chromosomes 8 and 11. Am. J. Hum. Genet. 56: 1132-1139, 1995.
[0017117]7705.Raskind, W. H.; Conrad, E. U., III; Matsushita, M.; Wijsman, E. M.; Wells, D. E.; Chapman, N.; Sandell, L. J.; Wagner, M.; Houck, J.: Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses. Hum. Mutat. 11: 231-239, 1998.
[0017118]7706.Scholz, W.; Murken, J. D.: Koppelungsuntersuchungen bei Familien mit multiplen cartilaginaeren Exostosen. Z. Menschl. Vererb. Konstitutionsl. 37: 178-192, 1963.
[0017119]7707.Seki, H.; Kubota, T.; Ikegawa, S.; Haga, N.; Fujioka, F.; Ohzeki, S.; Wakui, K.; Yoshikawa, H.; Takaoka, K.; Fukushima, Y.: Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses. Am. J. Med. Genet. 99: 59-62, 2001.
[0017120]7708.Shapiro, F.; Simon, S.; Glimcher, M. J.: Hereditary multiple exostoses: anthropometric, roentgenographic, and clinical aspects. J. Bone Joint Surg. 61A: 815-824, 1979.
[0017121]7709.Shupe, J. L.; Leone, N. C.; Olson, A. E.; Gardner, E. J.: Hereditary multiple exostoses: clinicopathologic features of a comparative study in horses and man. Am. J. Vet. Res. 40: 751-757, 1979.
[0017122]7710.Silverman, F. N.: Caffey's Pediatric X-ray Diagnosis: An Integrated Imaging Approach. Chicago: Year Book Med. Publ. (pub.) 1: 1985. Pp. 433-434.
[0017123]7711.Solomon, L.: Hereditary multiple exostosis. J. Bone Joint Surg. 45B: 292-304, 1963.
[0017124]7712.Solomon, L.: Hereditary multiple exostosis. Am. J. Hum. Genet. 16: 351-363, 1964.
[0017125]7713.Sugiura, Y.; Sugiura, I.; Iwata, H.: Hereditary multiple exostosis: diaphyseal aclasis. Jpn. J. Hum. Genet. 21: 149-167, 1976.
[0017126]7714.Vinstein, A. L.; Franken, E. A., Jr.: Hereditary multiple exostoses: report of a case with spinal cord compression. Am. J. Roentgen. 112: 405-407, 1971.
[0017127]7715.Strathdee, C. A.; Gavish, H.; Shannon, W. R.; Buchwald, M.: Cloning of cDNAs for Fanconi's anaemia by functional complementation. Nature 356: 763-767, 1992.
[0017128]7716.Koizumi, T.; Hendel, E.; Lalley, P. A.; Tchetgen, M.-B. N.; Nadeau, J. H.: Homologs of genes and anonymous loci on human chromosome 13 map to mouse chromosomes 8 and 14. Mammalian Genome 6: 263-268, 1995.
[0017129]7717.Bu, X.; Yang, H.-Y.; Shohat, M.; Rotter, J. I.: Two-locus mitochondrial and nuclear gene models for mitochondrial disorders. Genet. Epidemiol. 9: 27-44, 1992.
[0017130]7718.Bykhovskaya, Y.; Estivill, X.; Taylor, K.; Hang, T.; Hamon, M.; Casano, R. A. M. S.; Yang, H.; Rotter, J. I.; Shohat, M.; Fischel-Ghodsian, N.: Candidate locus for a nuclear modifier gene for maternally inherited deafness. Am. J. Hum. Genet. 66: 1905-1910, 2000.
[0017131]7719.Bykhovskaya, Y.; Shohat, M.; Ehrenman, K.; Johnson, D.; Hamon, M.; Cantor, R. M.; Aouizerat, B.; Bu, X.; Rotter, J. I.; Jaber, L.; Fischel-Ghodsian, N.: Evidence for complex nuclear inheritance in a pedigree with nonsyndromic deafness due to a homoplasmic mitochondrial mutation. Am. J. Med. Genet. 77: 421-426, 1998.
[0017132]7720.Bykhovskaya, Y.; Yang, H.; Taylor, K.; Hang, T.; Tun, R. Y. M.; Estivill, X.; Casano, R. A. M. S.; Majamaa, K.; Shohat, M.; Fischel-Ghodsian, N.: Modifier locus for mitochondrial DNA disease: linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness. Genet. Med. 3: 177-180, 2001.
[0017133]7721.Guan, M.-X.; Fischel-Ghodsian, N.; Attardi, G.: Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation. Hum. Molec. Genet. 5: 963-971, 1996.
[0017134]7722.Jaber, L.; Shohat, M.; Bu, X.; Fischel-Ghodsian, N.; Yang, H.-Y.; Wang, S.-J.; Rotter, J. I.: Sensorineural deafness inherited as a tissue specific mitochondrial disorder. J. Med. Genet. 29: 86-90, 1992.
[0017135]7723.Prezant, T. R.; Agapian, J. V.; Bohlman, M. C.; Bu, X.; Oztas, S.; Qiu, W.-Q.; Arnos, K. S.; Cortopassi, G. A.; Jaber, L.; Rotter, J. I.; Shohat, M.; Fischel-Ghodsian, N.: Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nature Genet. 4: 289-294, 1993.
[0017136]7724.Prezant, T. R.; Shohat, M.; Jaber, L.; Pressman, S.; Fischel-Ghodsian, N.: Biochemical characterization of a pedigree with mitochondrially inherited deafness. Am. J. Med. Genet. 44: 465-472, 1992.
[0017137]7725.Chen, M.; Tomkins, D. J.; Auerbach, W.; McKerlie, C.; Youssoufian, H.; Liu, L.; Gan, O.; Carreau, M.; Auerbach, A.; Groves, T.; Guidos, C. J.; Freedman, M. H.; Cross, J.; Percy, D. H.; Dick, J. E.; Joyner, A. L.; Buchwald, M.: Inactivation of Fac in mice produces inducible chromosomal instability and reduced fertility reminiscent of Fanconi anaemia. Nature Genet. 12: 448-451, 1996.
[0017138]7726.Gibson, R. A.; Ford, D.; Jansen, S.; Savoia, A.; Havenga, C.; Milner, R. D.; de Ravel, T. J.; Cohn, R. J.; Ball, S. E.; Roberts, I.; Llerena, J. C.; Vorechovsky, I.; Pearson, T.; Birjandi, F.; Hussein, S. S.; Murer-Orlando, M.; Easton, D. F.; Mathew, C. G.: Genetic mapping of the FACC gene and linkage analysis in Fanconi anaemia families. J. Med. Genet. 31: 868-871, 1994.
[0017139]7727.Hoatlin, M. E.; Christianson, T. A.; Keeble, W. W.; Hammond, A. T.; Zhi, Y.; Heinrich, M. C.; Tower, P. A.; Bagby, G. C., Jr.: The Fanconi anemia group C gene product is located in both the nucleus and cytoplasm of human cells. Blood 91: 1418-1425, 1998.
[0017140]7728.Montgomery, R. R.; Kunicki, T. J.; Taves, C.; Pidard, D.; Corcoran, M.: Diagnosis of Bernard-Soulier syndrome and Glanzmann's thrombasthenia with a monoclonal assay on whole blood. J. Clin. Invest. 71: 385-389, 1983.
[0017141]7729.Steinmann, B.; Gitzelmann, R.: The diagnosis of hereditary fructose intolerance. Helv. Paediat. Acta 36: 297-316, 1981.
[0017142]7730.Baerlocher, K.; Gitzelmann, R.; Nussli, R.; Dumermuth, G.: Infantile lactic acidosis due to hereditary fructose-1,6-diphosphatase deficiency. Helv. Paediat. Acta 26: 489-506, 1971.
[0017143]7731.Baker, L.; Winegrad, A. I.: Fasting hypoglycaemia and metabolic acidosis associated with deficiency of hepatic fructose-1,6-diphosphatase activity. Lancet II: 13-16, 1970.
[0017144]7732.Besley, G. T. N.; Walter, J. H.; Lewis, M. A.; Chard, C. R.; Addison, G. M.: Fructose-1,6-bisphosphatase deficiency: severe phenotype with normal leukocyte enzyme activity. J. Inherit. Metab. Dis. 17: 333-335, 1994.
[0017145]7733.Buhrdel, P.; Bohme, H.-J.; Didt, L.: Biochemical and clinical observations in four patients with fructose-1,6-diphosphatase deficiency. Europ. J. Pediat. 149: 574-576, 1990.
[0017146]7734.El-Maghrabi, M. R.; Lange, A. J.; Jiang, W.; Yamagata, K.; Stoffel, M.; Takeda, J.; Fernald, A. A.; Le Beau, M. M.; Bell, G. I.; Baker, L.; Pilkis, S. J.: Human fructose-1,6-bisphosphatase gene (FBP1): exon-intron organization, localization to chromosome bands 9q22.2-q22.3, and mutation screening in subjects with fructose-1,6-bisphosphatase deficiency. Genomics 27: 520-525, 1995.
[0017147]7735.Gitzelmann, R.; Steinmann, B.; van den Berghe, G.: Disorders of fructose metabolism.In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D.: The Metabolic Basis of Inherited Disease. New York: McGraw-Hill (pub.) (6th ed.) 1: 1989. Pp. 413-417.
[0017148]7736.Greene, H. L.; Stifel, F. B.; Herman, R. H.: 'Ketotic hypoglycemia' due to hepatic fructose-1,6-diphosphatase deficiency. Am. J. Dis. Child. 124: 415-420, 1972.
[0017149]7737.Hulsmann, W. C.; Fernandez, J.: A child with lactacidemia and fructose diphosphatase deficiency in the liver. Pediat. Res. 5: 633-637, 1971.
[0017150]7738.Kikawa, Y.; Inuzuka, M.; Jin, B. Y.; Kaji, S.; Koga, J.; Yamamoto, Y.; Fujisawa, K.; Hata, I.; Nakai, A.; Shigematsu, Y.; Mizunuma, H.; Taketo, A.; Mayumi, M.; Sudo, M.: Identification of genetic mutations in Japanese patients with fructose-1,6-biphosphatase deficiency. Am. J. Hum. Genet. 61: 852-861, 1997.
[0017151]7739.Kikawa, Y.; Inuzuka, M.; Jin, B. Y.; Kaji, S.; Yamamoto, Y.; Shigematsu, Y.; Nakai, A.; Taketo, A.; Ohura, T.; Mikami, H.; Mizunuma, H.; Suzuki, Y.; Narisawa, K.; Sudo, M.: Identification of a genetic mutation in a family with fructose-1,6-biphosphatase deficiency. Biochem. Biophys. Res. Commun. 210: 797-804, 1995.
[0017152]7740.Melancon, S. B.; Nadler, H. L.: Detection of fructose-1,6-diphosphatase deficiency with use of white blood cells. (Letter) New Eng. J. Med. 286: 731-732, 1972.
[0017153]7741.Moses, S. W.; Bashan, N.; Flasterstein, B. F.; Rachmel, A.; Gutman, A.: Fructose-1,6-diphosphatase deficiency in Israel. Israel J. Med. Sci. 27: 1-4, 1991.
[0017154]7742.Odievre, M.; Brivet, M.; Moatti, N.; Dreyfus, J.-C.; Beaufils, F.; Lejeune, C.; Feffer, J.: Defict en fructose-1,6-diphosphatase chez deux soeurs. Arch. Franc. Pediat. 32: 113-122, 1975.
[0017155]7743.Pagliara, A. S.; Karl, I. E.; Keating, J. P.; Brown, B. I.; Kipnis, D. M.: Hepatic fructose-1,6-diphosphatase deficiency. A cause of lactic acidosis and hypoglycemia in infancy. J. Clin. Invest. 51: 2115-2123, 1972.
[0017156]7744.Holtzman, N. A.; Kronmal, R. A.; van Doorninck, W.; Azen, C.; Koch, R.: Effect of age at loss of dietary control on intellectual performance and behavior of children with phenylketonuria. New Eng. J. Med. 314: 593-598, 1986.
[0017157]7745.Amit, R.; Bashan, N.; Abarbanel, J. M.; Shapira, Y.; Sofer, S.; Moses, S.: Fatal familial infantile glycogen storage disease: multisystem phosphofructokinase deficiency. Muscle Nerve 15: 455-458, 1992.
[0017158]7746.Argov, Z.; Barash, V.; Soffer, D.; Sherman, J.; Raben, N.: Late-onset muscular weakness in phosphofructokinase deficiency due to exon 5/intron 5 junction point mutation: a unique disorder or the natural course of this glycolytic disorder? Neurology 44: 1097-1100, 1994.
[0017159]7747.Bruno, C.; Minetti, C.; Shanske, S.; Morreale, G.; Bado, M.; Cordone, G.; DiMauro, S.: Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria. Neurology 50: 296-298, 1998.
[0017160]7748.Danon, M. J.; Carpenter, S.; Manaligod, J. R.; Schliselfeld, L. H.: Fatal infantile glycogen storage disease: deficiency of phosphofructokinase and phosphorylase b kinase. Neurology 31: 1303-1307, 1981.
[0017161]7749.Danon, M. J.; Servidei, S.; DiMauro, S.; Vora, S.: Late-onset muscle phosphofructokinase deficiency. Neurology 38: 956-960, 1988.
[0017162]7750.Davidson, M.; Miranda, A. F.; Bender, A. N.; DiMauro, S.; Vora, S.: Muscle phosphofructokinase deficiency: biochemical and immunological studies of phosphofructokinase isozymes in muscle culture. J. Clin. Invest. 72: 545-550, 1983.
[0017163]7751.Guibaud, P.; Carrier, H.; Mathieu, M.; Dorche, C.; Parchoux, B.; Bethenod, M.; Larbre, F.: Observation familiale de dystrophie musculaire congenitale par deficit en phosphofructokinase. Arch. Franc. Pediat. 35: 1105-1115, 1978.
[0017164]7752.Haller, R. G.; Lewis, S. F.: Glucose-induced exertional fatigue in muscle phosphofructokinase deficiency. New Eng. J. Med. 324: 364-369, 1991.
[0017165]7753.Hamaguchi, T.; Nakajima, H.; Noguchi, T.; Nakagawa, C.; Kuwajima, M.; Kono, N.; Tarui, S.; Matsuzawa, Y.: Novel missense mutation (W686C) of the phosphofructokinase-M gene in a Japanese patient with a mild form of glycogenosis VII. Hum. Mutat. 8: 273-275, 1996.
[0017166]7754.Hays, A. P.; Hallett, M.; Delfs, J.; Morris, J.; Sotrel, A.; Shevchuk, M. M.; DiMauro, S.: Muscle phosphofructokinase deficiency: abnormal polysaccharide in a case of late-onset myopathy. Neurology 31: 1077-1086, 1981.
[0017167]7755.Howard, T. D.; Akots, G.; Bowden, D. W.: Physical and genetic mapping of the muscle phosphofructokinase gene (PFKM): reassignment to human chromosome 12q. Genomics 34: 122-127, 1996.
[0017168]7756.Layzer, R. B.; Rowland, L. P.; Bank, W. J.: Physical and kinetic properties of human phosphofructokinase from skeletal muscle and erythrocytes. J. Biol. Chem. 244: 3823-3831, 1969.
[0017169]7757.Layzer, R. B.; Rowland, L. P.; Ranney, H. M.: Muscle phosphofructokinase deficiency. Arch. Neurol. 17: 512-523, 1967.
[0017170]7758.Mineo, I.; Kono, N.; Hara, N.; Shimizu, T.; Yamada, Y.; Kawachi, M.; Kiyokawa, H.; Wang, Y. L.; Tarui, S.: Myogenic hyperuricemia: a common pathophysiologic feature of glycogenosis types III, V, and VII. New Eng. J. Med. 317: 75-80, 1987.
[0017171]7759.Nakajima, H.: Personal Communication. Osaka, Japan 6/15/1997.
[0017172]7760.Nakajima, H.; Kono, N.; Yamasaki, T.; Hotta, K.; Kawachi, M.; Kuwajima, M.; Noguchi, T.; Tanaka, T.; Tarui, S.: Genetic defect in muscle phosphofructokinase deficiency: abnormal splicing of the muscle phosphofructokinase gene due to a point mutation at the 5-prime-splice site. J. Biol. Chem. 265: 9392-9395, 1990.
[0017173]7761.Nakajima, H.; Noguchi, T.; Yamasaki, T.; Kono, N.; Tanaka, T.; Tarui, S.: Cloning of human muscle phosphofructokinase cDNA. FEBS Lett. 223: 113-116, 1987.
[0017174]7762.Nishikawa, M.; Tsukiyama, K.; Enomoto, T.; Tarui, S.; Okuno, G.; Ueda, K.; Ikura, T.; Tsujii, T.; Sugase, T.; Suda, M.; Tanaka, T. : A new type of skeletal muscle glycogenosis due to phosphofructokinase deficiency. Proc. Jpn. Acad. 41: 350-353, 1965.
[0017175]7763.Raben, N.; Sherman, J.; Miller, F.; Mena, H.; Plotz, P.: A 5-prime splice junction mutation leading to exon deletion in an Ashkenazic Jewish family with phosphofructokinase deficiency (Tarui disease). J. Biol. Chem. 268: 4963-4967, 1993.
[0017176]7764.Raben, N.; Sherman, J.; Nicastri, C.; Adams, E.; Argov, Z.; Nakajima, H.; Plotz, P.: A limited number of mutations in the phosphofructokinase gene in Ashkenazi Jewish patients with glycogenosis VII (Tarui disease).(Abstract) Am. J. Hum. Genet. 53 (suppl.): A942, 1993.
[0017177]7765.Raben, N.; Sherman, J. B.: Mutations in muscle phosphofructokinase gene. Hum. Mutat. 6: 1-6, 1995.
[0017178]7766.Ristow, M.; Vorgerd, M.; Mohlig, M.; Schatz, H.; Pfeiffer, A. : Deficiency of phosphofructo-1-kinase/muscle subtype in humans impairs insulin secretion and causes insulin resistance. J. Clin. Invest. 100: 2833-2841, 1997.
[0017179]7767.Bolliger-Stucki, B.; Lord, S. T.; Furlan, M.: Fibrinogen Milano XII: a dysfunctional variant containing 2 amino acid substitutions, A-alpha R16C and gamma G165R. Blood 98: 351-357, 2001.
[0017180]7768.Li, Y.-M.; Xu, M.; Lai, M.-T.; Huang, Q.; Castro, J. L.; DiMuzio-Mower, J.; Harrison, T.; Lellis, C.; Nadin, A.; Neduvelil, J. G.; Register, R. B.; Sardana, M. K.; Shearman, M. S.; Smith, A. L.; Shi, X.-P.; Yin, K.-C.; Shafer, J. A.; Gardell, S. J.: Photoactivated gamma-secretase inhibitors directed to the active site covalently label presenilin 1. Nature 405: 689-694, 2000.
[0017181]7769.Lopera, F.; Ardilla, A.; Martinez, A.; Madrigal, L.; Arango-Viana, J. C.; Lemere, C. A.; Arango-Lasprilla, J. C.; Hincapie, L.; Arcos-Burgos, M.; Ossa, J. E.; Behrens, I. M.; Norton, J.; Lendon, C.; Goate, A. M.; Ruiz-Linares, A.; Rosselli, M.; Kosik, K. S.: Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mutation. J.A.M.A. 277: 793-799, 1997.
[0017182]7770.Branson, H. E.; Schmer, G.; Dillard, D. H.: Fibrinogen Seattle: a qualitatively abnormal fibrinogen in a patient with tetralogy of Fallot. Am. J. Clin. Path. 67: 236-240, 1977.
[0017183]7771.Brennan, S. O.; Hammonds, B.; George, P. M.: Aberrant hepatic processing causes removal of activation peptide and primary polymerisation site from fibrinogen Canterbury (A-alpha 20 val-to-asp). J. Clin. Invest. 96: 2854-2858, 1995.
[0017184]7772.Carrell, N.; Gabriel, D. A.; Blatt, P. M.; Carr, M. E.; McDonagh, J.: Hereditary dysfibrinogenemia in a patient with thrombotic disease. Blood 62: 432-447, 1983.
[0017185]7773.Collen, A.; Maas, A.; Kooistra, T.; Lupu, F.; Grimbergen, J.; Haas, F. J. L. M.; Biesma, D. H.; Koolwijk, P.; Koopman, J.; van Hinsbergh, V. W. M.: Aberrant fibrin formation and cross-linking of fibrinogen Nieuwegein, a variant with a shortened A-alpha-chain, alters endothelial capillary tube formation. Blood 97: 973-980, 2001.
[0017186]7774.Crabtree, G. R.; Kant, J. A.: Molecular cloning of cDNA for the alpha, beta, and gamma chains of rat fibrinogen: a family of coordinately regulated genes. J. Biol. Chem. 256: 9718-9723, 1981.
[0017187]7775.Crabtree, G. R.; Kant, J. A.: Coordinate accumulation of the mRNAs for the alpha, beta, and gamma chains of rat fibrinogen following defibrination. J. Biol. Chem. 257: 7277-7279, 1982.
[0017188]7776.Crum, E. D.; Shainoff, J. R.; Graham, R. C.; Ratnoff, O. D.: Fibrinogen Cleveland II: an abnormal fibrinogen with defective release of fibrinopeptide A. J. Clin. Invest. 53: 1308-1319, 1974.
[0017189]7777.Davison, A. M.: The United Kingdom Medical Research Council's glomerulonephritis registry. Contrib. Nephrol. 48: 24-35, 1985.
[0017190]7778.Dayhoff, M. O.: Atlas of Protein Sequence and Structure. Fibrinogen and fibrinopeptides. Washington: National Biomedical Research Foundation (pub.) 5: 1972. Pp. D87-D97.
[0017191]7779.Doolittle, R. F.; Chen, R.; Glasgow, C.; Mross, B.; Weinstein, M.: The molecular constancy of fibrinopeptides A and B from 125 individual humans. Humangenetik 10: 15-29, 1970.
[0017192]7780.Doolittle, R. F.; Takagi, T.; Cottrell, B. A.: Platelet and plasma fibrinogens are identical gene products. Science 185: 368-370, 1974.
[0017193]7781.Drew, A. F.; Liu, H.; Davidson, J. M.; Daugherty, C. C.; Degen, J. L.: Wound-healing defects in mice lacking fibrinogen. Blood 97: 3691-3698, 2001.
[0017194]7782.Ebert, R. F.: Index of Variant Human Fibrinogens. Rockville, Md.: Privately published (pub.) 1990.
[0017195]7783.Ebert, R. F.; Schreiber, W. E.; Bell, W. R.: Fibrinogen Seattle II: congenital dysfibrinogenemia with an arg (A alpha 16)-to-his substitution. Thromb. Res. 43: 7-13, 1986.
[0017196]7784.Forman, W. B.; Ratnoff, O. D.; Boyer, M. H.: An inherited qualitative abnormality in plasma fibrinogen: fibrinogen Cleveland. J. Lab. Clin. Med. 72: 455-472, 1968.
[0017197]7785.Fu, Y.; Cao, Y.; Hertzberg, K. M.; Grieninger, G.: Fibrinogen alpha genes: conservation of bipartite transcripts and carboxy-terminal-extended alpha subunits in vertebrates. Genomics 30: 71-76, 1995.
[0017198]7786.Fu, Y.; Weissbach, L.; Plant, P. W.; Oddoux, C.; Cao, Y.; Liang, T. J.; Roy, S. N.; Redman, C. M.; Grieninger, G.: Carboxy-terminal-extended variant of the human fibrinogen alpha subunit: a novel exon conferring marked homology to beta and gamma subunits. Biochemistry 31: 11968-11972, 1992.
[0017199]7787.Fuchs, G.; Egbring, R.; Havemann, K.: Fibrinogen Marburg--new genetic variant of fibrinogen. Blut 34: 107-118, 1977.
[0017200]7788.Funk, C.; Straub, P. W.: Hereditary abnormality of fibrin monomer aggregation ('fibrinogen Zurich II'). Europ. J. Clin. Invest. 1: 131, 1970.
[0017201]7789.Galanakis, D. K.: Inherited dysfibrinogenemia: emerging abnormal structure associations with pathologic and nonpathologic dysfunctions. Semin. Thromb. Hemost. 19: 386-395, 1993.
[0017202]7790.Galanakis, D. K.; Henschen, A.; Keeling, M.; Kehl, M.; Dismore, R.; Peerschke, E. I.: Fibrinogen Louisville: an A-alpha-16-arg-to-his defect that forms no hybrid molecules in heterozygous individuals and inhibits aggregation of normal fibrin monomers. Ann. N.Y. Acad. Sci. 408: 644-648, 1983.
[0017203]7791.Galanakis, D. K.; Henschen, A.; Peerschke, E. I. B.; Kehl, M. : Fibrinogen Stony Brook, a heterozygous A-alpha-16-arg-to-cys dysfibrinogenemia: evaluation of diminished platelet aggregation support and of enhanced inhibition of fibrin assembly. J. Clin. Invest. 84: 295-304, 1989.
[0017204]7792.Godal, H. C.; Brosstad, F.; Kierulf, P.: Three new cases of an inborn qualitative fibrinogen defect (fibrinogen Oslo II). Scand. J. Haemat. 20: 57-62, 1978.
[0017205]7793.Gralnick, H. R.; Coller, B. S.; Fratantoni, J. C.; Martinez, J. : Fibrinogen Bethesda III: a hypodysfibrinogenemia. Blood 53: 28-46, 1979.
[0017206]7794.Gralnick, H. R.; Finlayson, J. S.: Congenital dysfibrinogenemias. Ann. Intern. Med. 77: 471-473, 1972.
[0017207]7795.Gralnick, H. R.; Givelber, H. M.; Finlayson, J. S.: Congenital dysfibrinogenemia: fibrinogen Bethesda II.In: Abstracts, International Society on Thrombosis and Haemostasis. Oslo: Villco Trykkeri (pub.) 1972.
[0017208]7796.Gralnick, H. R.; Givelber, H. M.; Shainoff, J. R.; Finlayson, J. S.: Fibrinogen Bethesda: a congenital dysfibrinogenemia with delayed fibrinopeptide release. J. Clin. Invest. 50: 1819-1830, 1971.
[0017209]7797.Hampton, J. W.; Garrison, M. S.: Fibrinogen and fibrin-stabilizing factor. Med. Clin. N. Am. 56: 133-143, 1972.
[0017210]7798.Hampton, J. W.; Morton, R. O.; Bannerjee, D.; Kalmaz, E.: Defective fibrin crosslinkages: a genetic and biochemical study of three families. (Abstract) J. Clin. Invest. 50: 42A only, 1971.
[0017211]7799.Hamsten, A.; Iselius, L.; de Faire, U.; Blomback, M.: Genetic and cultural inheritance of plasma fibrinogen concentration. Lancet II: 988-990, 1987.
[0017212]7800.Alzheimer's Disease Collaborative Group: The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families. Nature Genet. 11: 219-222, 1995.
[0017213]7801.Athan, E. S.; Williamson, J.; Ciappa, A.; Santana, V.; Romas, S. N.; Lee, J. H.; Rondon, H.; Lantigua, R. A.; Medrano, M.; Torres, M.; Arawaka, S.; Rogaeva, E.; and 10 others: A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families. J.A.M.A. 286: 2257-2263, 2001.
[0017214]7802.Buckler, A. J.; Chang, D. D.; Graw, S. L.; Brook, J. D.; Haber, D. A.; Sharp, P. A.; Housman, D. E.: Exon amplification: a strategy to isolate mammalian genes based on RNA splicing. Proc. Nat. Acad. Sci. 88: 4005-4009, 1991.
[0017215]7803.Campion, D.; Brice, A.; Hannequin, D.; Tardieu, S.; Dubois, B.; Calenda, A.; Brun, E.; Penet, C.; Tayot, J.; Martinez, M.; Bellis, M.; Mallet, J.; Agid, Y.; Clerget-Darpoux, F.: A large pedigree with early-onset Alzheimer's disease: clinical, neuropathologic, and genetic characterization. Neurology 45: 80-85, 1995.
[0017216]7804.Clark, R. F.; Hutton, M.; Talbot, C.; Wragg, M.; Lendon, C.; Busfield, F.; Han, S. W.; Perez-Tur, J.; Adams, M.; Fuldner, R.; Roberts, G.; Karran, E.; Hardy, J.; Goate, A.: The role of presenilin 1 in the genetics of Alzheimer's disease. Cold Spring Harbor Symp. Quant. Biol. 61: 551-558, 1996.
[0017217]7805.Borchelt, D. R.; Thinakaran, G.; Eckman, C. B.; Lee, M. K.; Davenport, F.; Ratovitsky, T.; Prada, C.-M.; Kim, G.; Seekins, S.; Yager, D.; Slunt, H. H.; Wang, R.; Seeger, M.; Levey, A. I.; Gandy, S. E.; Copeland, N. G.; Jenkins, N. A.; Price, D. L.; Younkin, S. G; Sisodia, S. S. : Familial Alzheimer's disease-linked presenilin 1 variants elevate A-beta-1-42/1-40 ratio in vitro and in vivo. Neuron 17: 1005-1013, 1996.
[0017218]7806.Citron, M.; Westaway, D.; Xia, W.; Carlson, G.; Diehl, T.; Levesque, G.; Johnson-Wood, K.; Lee, M.; Seubert, P.; Davis, A.; Kholodenko, D.; Motter, R.; Sherrington, R.; Perry, B.; Yao, H.; Strome, R.; Lieberburg, I.; Rommens, J.; Kim. S.; Schenk, D.; Fraser, P.; St George Hyslop, P.; Selkoe, D. J.: Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid betaprotein in both transfected cells and transgenic mice. Nature Med. 3: 67-72, 1997.
[0017219]7807.Crook, R.; Verkkoniemi, A.; Perez-Tur, J.; Mehta N.; Baker, M.; Houlden, H.; Farrer, M.; Hutton, M.; Lincoln, S.; Hardy, J.; Gwinn, K.; Somer, M.; Paetau, A.; Kalimo, H.; Ylikoski, R.; Poyhonen, M.; Kucera, S.; Haltia, M.: A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1. Nature Med. 4: 452-455, 1998.
[0017220]7808.Cruts, M.; Van Broeckhoven, C.: Presenilin mutations in Alzheimer's disease. Hum. Mutat. 11: 183-190, 1998.
[0017221]7809.Cruts, M.; van Duijn, C. M.; Backhovens, H.; Van den Broeck, M.; Wehnert, A.; Serneels, S.; Sherrington, R.; Hutton, M.; Hardy, J.; St George-Hyslop, P. H.; Hofman, A.; Van Broeckhoven, C.: Estimation of the genetic contribution of presenilin-1 and -2 mutations in a populationbased study of presenile Alzheimer disease. Hum. Molec. Genet. 7: 43-51, 1998.
[0017222]7810.Davis, J. A.; Naruse, S.; Chen, H.; Eckman, C.; Younkin, S.; Price, D. L.; Borchelt, D. R.; Sisodia, S. S.; Wong, P. C.: An Alzheimer's disease-linked PS1 variant rescues the developmental abnormalities of PS1-deficient embryos. Neuron 20: 603-609, 1998.
[0017223]7811.De Jonghe, C.; Cruts, M.; Rogaeva, E. A.; Tysoe, C.; Singleton, A.; Vanderstichele, H.; Meschino, W.; Dermaut, B.; Vanderhoeven, I.; Backhovens, H.; Vanmechelen, E.; Morris, C. M.; Hardy, J.; Rubinsztein, D. C.; St George-Hyslop, P. H.; Van Broeckhoven, C.: Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased A-beta-42 secretion. Hum. Molec. Genet. 8: 1529-1540, 1999.
[0017224]7812.Dermaut, B.; Cruts, M.; Slooter, A. J. C.; Van Gestel, S.; De Jonghe, C.; Vanderstichele, H.; Vanmechelen, E.; Breteler, M. M.; Hofman, A.; van Duijn, C. M.; Van Broeckhoven, C.: The glu318-to-gly substitution in presenilin 1 is not causally related to Alzheimer disease. (Letter) Am. J. Hum. Genet. 64: 290-292, 1999.
[0017225]7813.De Strooper, B.; Annaert, W.; Cupers, P.; Saftig, P.; Craessaerts, K.; Mumm, J. S.; Schroeter, E. H.; Schrijvers, V.; Wolfe, M. S.; Ray, W. J.; Goate, A.; Kopan, R.: A presenilin-1-dependent gamma-secretase-like protease mediates release of Notch intracellular domain. Nature 398: 518-522, 1999.
[0017226]7814.De Strooper, B.; Saftig, P.; Craessaerts, K.; Vanderstichele, H.; Guhde, G.; Annaert, W.; Von Figura, K.; Van Leuven, F.: Deficiency of presenilin-1 inhibits the normal cleavage of amyloid precursor protein. Nature 391: 387-390, 1998.
[0017227]7815.Devi, G.; Fotiou, A.; Jyrinji, D.; Tycko, B.; DeArmand, S.; Rogaeva, E.; Song, Y.-Q.; Medieros, H.; Liang, Y.; Orlacchio, A.; Williamson, J.; St George-Hyslop, P.; Mayeux, R.: Novel presenilin 1 mutations associated with early onset of dementia in a family with both early-onset and lateonset Alzheimer disease. Arch. Neurol. 57: 1454-1457, 2000.
[0017228]7816.Dineley, K. T.; Xia, X.; Bui, D.; Sweatt, J. D.; Zheng, H.: Accelerated plaque accumulation, associative learning deficits, and up-regulation of alpha-7 nicotinic receptor protein in transgenic mice co-expressing mutant human presenilin 1 and amyloid precursor proteins. J. Biol. Chem. 277: 22768-22780, 2002.
[0017229]7817.Donoviel, D. B.; Hadjantonakis, A.-K.; Ikeda, M.; Zheng, H.; St George Hyslop, P.; Bernstein, A.: Mice lacking both presenilin genes exhibit early embryonic patterning defects. Genes Dev. 13: 2801-2810, 1999.
[0017230]7818.Duff, K.; Eckman, C.; Zehr, C.; Yu, X; Prada, C.-M.; Perez-tur, J.; Hutton, M.; Buee, L.; Harigaya, Y.; Yager, D.; Morgan, D.; Gordon, M. N.; Holcomb, L.; Refolo, L.; Zenk, B.; Hardy, J.; Youndkin, S. : Increased amyloid-beta-42(43) in brains of mice expressing mutant presenilin 1. Nature 383: 710-713, 1996.
[0017231]7819.Burrows, N. P.; Nicholls, A. C.; Yates, J. R. W.; Gatward, G.; Sarathachandra, P.; Richards, A.; Pope, F. M.: The gene encoding collagen alpha-1(V) (COL5A1) is linked to mixed Ehlers-Danlos syndrome type I/II. J. Invest. Derm. 106: 1273-1276, 1996.
[0017232]7820.Blair, I. P.; Hulme, D.; Dawkins, J. L.; Nicholson, G. A.: A YAC-based transcript map of human chromosome 9q22.1-q22.3 encompassing the loci for hereditary sensory neuropathy type I and multiple self-healing squamous epithelioma. Genomics 51: 277-281, 1998.
[0017233]7821.Brennan, R. W.; Dehejia, H.; Kutt, H.; Verebely, K.; McDowell, F.: Diphenylhydantoin intoxication attendant to slow inactivation of isoniazid. Neurology 20: 687-693, 1970.
[0017234]7822.Brown, S.; Chalmers, D. E.: Microsomal epoxide hydrolase activity in human x mouse hybrid cells. Biochem. Biophys. Res. Commun. 137: 775-780, 1986.
[0017235]7823.Buehler, B. A.; Delimont, D.; van Waes, M.; Finnell, R. H.: Prenatal prediction of risk of the fetal hydantoin syndrome. New Eng. J. Med. 322: 1567-1571, 1990.
[0017236]7824.Chodirker, B. N.; Chudley, A. E.; Reed, M. H.; Persaud, T. V. N. : Possible prenatal hydantoin effect in a child born to a nonepileptic mother. Am. J. Med. Genet. 27: 373-378, 1987.
[0017237]7825.De Smet, L.; Debeer, P.: Fetal hydantoin syndrome with unilateral atypical cleft hand: additional evidence for vascular disruption. Genet. Counsel. 13: 157-161, 2002.
[0017238]7826.de Wolff, F. A.; Vermeij, P.; Ferrari, M. D.; Buruma, O. J. S.; Breimer, D. D.: Impairment of phenytoin parahydroxylation as a cause of severe intoxication. Ther. Drug Monit. 5: 213-215, 1983.
[0017239]7827.Gennis, M. A.; Vemuri, R.; Burns, E. A.; Hill, J. V.; Miller, M. A.; Spielberg, S. P.: Familial occurrence of hypersensitivity to phenytoin. Am. J. Med. 91: 631-634, 1991.
[0017240]7828.Goldman, A. S.; Van Dyke, D. C.; Gupta, C.; Katsumata, M.: Elevated glucocorticoid receptor levels in lymphocytes of children with the fetal hydantoin syndrome (FHS). Am. J. Med. Genet. 28: 607-618, 1987.
[0017241]7829.Hanson, J. W.; Myrianthopoulos, N. C.; Sedgwick, M. H. A.; Smith, D. W.: Risks to the offspring of women treated with hydantoin anticonvulsants, with emphasis on the fetal hydantoin syndrome. J. Pediat. 89: 662-668, 1976.
[0017242]7830.Hartsfield, J. K., Jr.; Sutcliffe, M. J.; Everett, E. T.; Hassett, C.; Omiecinski, C. J.; Saari, J. A.: Assignment of microsomal epoxide hydrolase (EPHX1) to human chromosome 1q42.1 by in situ hybridization. Cytogenet. Cell Genet. 83: 44-45, 1998.
[0017243]7831.Aoyama, T.; Francke, U.; Dietz, H. C.; Furthmayr, H.: Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms. J. Clin. Invest. 94: 130-137, 1994.
[0017244]7832.Biery, N. J.; Eldadah, Z. A.; Moore, C. S.; Stetten, G.; Spencer, F.; Dietz, H. C.: Revised genomic organization of FBN1 and significance for regulated gene expression. Genomics 56: 70-77, 1999.
[0017245]7833.Caputi, M.; Kendzior, R. J., Jr.; Beemon, K. L.: A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer. Genes Dev. 16: 1754-1759, 2002.
[0017246]7834.Cech, T. R.; Bass, B. L.: Biological catalysis by RNA. Ann. Rev. Biochem. 55: 599-629, 1986.
[0017247]7835.Chikumi, H.; Yamamoto, T.; Ohta, Y.; Nanba, E.; Nagata, K.; Ninomiya, H.; Narasaki, K.; Katoh, T.; Hisatome, I.; Ono, K.; Tanaka, Y.; Kuroda, H.; Ohgi, S.: Fibrillin gene (FBN1) mutations in Japanese patients with Marfan syndrome. Am. J. Hum. Genet. 45: 115-118, 2000.
[0017248]7836.Collod, G.; Beroud, C.; Soussi, T.; Junien, C.; Boileau, C.: Software and database for the analysis of mutations in the human FBN1 gene. Nucleic Acids Res. 24: 137-140, 1996.
[0017249]7837.Collod-Beroud, G.; Beroud, C.; Ades, L.; Black, C.; Boxer, M.; Brock, D. J.; Godfrey, M.; Hayward, C.; Karttunen, L.; Milewicz, D.; Peltonen, L.; Richards, R. I.; Wang, M.; Junien, C.; Boileau, C.: Marfan database (second edition): software and database for the analysis of mutations in the human FBN1 gene. Nucleic Acids Res. 25: 147-150, 1997.
[0017250]7838.Usala, A.-L.; Madigan, T.; Burguera, B.; Sinha, M. K.; Caro, J. F.; Cunningham, P.; Powell, J. G.; Butler, P. C.: Treatment of insulin-resistant diabetic ketoacidosis with insulin-like growth factor I in an adolescent with insulin-dependent diabetes. New Eng. J. Med. 327: 853-857, 1992.
[0017251]7839.Vaessen, N.; Janssen, J. A.; Heutink, P.; Hofman, A.; Lamberts, S. W. J.; Oostra, B. A.; Pols, H. A. P.; van Duijn, C. M.: Association between genetic variation in the gene for insulin-like growth factor-1 and low birthweight. Lancet 359: 1036-1037, 2002.
[0017252]7840.Van Wyk, J. J.; Svoboda, M. E.; Underwood, L. E.: Evidence from radioligand assays that somatomedin-C and insulin-like growth factor-I are similar to each other and different from other somatomedins. J. Clin. Endocr. Metab. 50: 206-208, 1980.
[0017253]7841.Zalin, A. M.; Jones, S.; Fitch, N. J. S.; Ramsden, D. B.: Familial nephropathic nonneuropathic amyloidosis: clinical features, immunohistochemistry and chemistry. Quart. J. Med. 81: 945-956, 1991.
[0017254]7842.Ceccherini, I.; Romei, C.; Barone, V.; Pacini, F.; Martino, E.; Loviselli, A.; Pinchera, A.; Romeo, G.: Identification of the cys634-to-tyr mutation of the RET proto-oncogene in a pedigree with multiple endocrine neoplasia type 2A and localized cutaneous lichen amyloidosis. J. Endocr. Invest. 17: 201-204, 1994.
[0017255]7843.Sarkar, F. H.; Gupta, S. L.: Receptors for human gamma interferon: binding and crosslinking of 125-I-labeled recombinant human gamma interferon to receptors on WISH cells. Proc. Nat. Acad. Sci. 81: 5160-5164, 1984.
[0017256]7844.Slate, D. L.; Ruddle, F. H.: Antibodies to chromosome 21 coded cell surface components can block response to human interferon. Cytogenet. Cell Genet. 22: 265-269, 1978.
[0017257]7845.Slate, D. L.; Shulman, L.; Lawrence, J. B.; Revel, M.; Ruddle, F. H.: Presence of human chromosome 21 alone is sufficient for hybrid cell sensitivity to human interferon. J. Virol. 25: 319-325, 1978.
[0017258]7846.Takaoka, A.; Mitani, Y.; Suemori, H.; Sato, M.; Yokochi, T.; Noguchi, S.; Tanaka, N.; Taniguchi, T.: Cross talk between interferon-gamma and -alpha/beta signaling components in caveolar membrane domains. Science 288: 2357-2360, 2000.
[0017259]7847.Tan, Y. H.: Chromosome 21 and the cell growth inhibitory effect of human interferon preparations. Nature 260: 141-143, 1976.
[0017260]7848.Tan, Y. H.; Schneider, E. L.; Tischfield, J.; Epstein, C. J.; Ruddle, F. H.: Human chromosome 21 dosage: effect on the expression of the interferon induced antiviral state. Science 186: 61-63, 1974.
[0017261]7849.Tan, Y. H.; Tischfield, J.; Ruddle, F. H.: The linkage of genes for the human interferoninduced antiviral protein and indophenoloxidase-B traits to chromosome G-21. J. Exp. Med. 37: 317-330, 1973.
[0017262]7850.Weil, J.; Tucker, G.; Epstein, L. B.; Epstein, C. J.: Interferon induction of (2-prime-5-prime) oligoisoadenylate synthetase in diploid and trisomy 21 human fibroblasts: relation to dosage of the interferon receptor gene (IFRC). Hum. Genet. 65: 108-111, 1983.
[0017263]7851.Wiranowska-Stewart, M.; Stewart, W. E., II: The role of human chromosome 21 in sensitivity to interferons. J. Gen. Virol. 37: 629-633, 1977.
[0017264]7852.Aguet, M.; Dembic, Z.; Merlin, G.: Molecular cloning and expression of the human interferon-gamma receptor. Cell 55: 273-280, 1988.
[0017265]7853.Alcaide-Loridan, C.; Le Coniat, M.; Bono, R.; Benech, P.; Couillin, P.; Van Cong, N.; Fisher, D. N.; Berger, R.; Fellous, M.: Mapping of the human interferon gamma response. (Abstract) Cytogenet. Cell Genet. 51: 949 only, 1989.
[0017266]7854.Branca, A. A.; Baglioni, C.: Evidence that types I and II interferons have different receptors. Nature 294: 768-770, 1981.
[0017267]7855.Casanova, J.-L.; Jouanguy, E.; Lamhamedi, S.; Blanche, S.; Fischer, A.: Immunological conditions of children with BCG disseminated infection. (Letter) Lancet 346: 581 only, 1995.
[0017268]7856.Celada, A.; Allen, R.; Esparza, I.; Gray, P. W.; Schreiber, R. D.: Demonstration and partial characterization of the interferon-gamma receptor on human mononuclear phagocytes. J. Clin. Invest. 76: 2196-2205, 1985.
[0017269]7857.Lee, W. M.; Galbraith, R. M.: The extracellular actin-scavenger system and actin toxicity. New Eng. J. Med. 326: 1335-1341, 1992.
[0017270]7858.Pilz, A.; Moseley, H.; Peters, J.; Abbott, C.: Comparative mapping of mouse chromosome 2 and human chromosome 9q: the genes for gelsolin and dopamine beta-hydroxylase map to mouse chromosome 2. Genomics 12: 715-719, 1992.
[0017271]7859.de Lecea, L.; Kilduff, T. S.; Peyron, C.; Gao, X.-B.; Foye, P. E.; Danielson, P. E.; Fukuhara, C.; Battenberg, E. L. F.; Gautvik, V. T.; Bartlett, F. S., II; Frankel, W. N.; van den Pol, A. N.; Bloom, F. E.; Gautvik, K. M.; Sutcliffe, J. G.: The hypocretins: hypothalamus-specific peptides with neuroexcitatory activity. Proc. Nat. Acad. Sci. 95: 322-327, 1998.
[0017272]7860.Lin, L.; Faraco, J.; Li, R.; Kadotani, H.; Rogers, W.; Lin, X.; Qiu, X.; de Jong, P. J.; Nishino, S.; Mignot, E.: The sleep disorder canine narcolepsy is caused by a mutation in the hypocretin (orexin) receptor 2 gene. Cell 98: 365-376, 1999.
[0017273]7861.Ostrander, E. A.; Giniger, E.: Let sleeping dogs lie? Nature Genet. 23: 3-4, 1999.
[0017274]7862.Peyron, C.; Faraco, J.; Rogers, W.; Ripley, B.; Overeem, S.; Charnay, Y.; Nevsimalova, S.; Aldrich, M.; Reynolds, D.; Albin, R.; Li, R.; Hungs, M.; and 10 others: A mutation in a case of early onset narcolepsy and a generalized absence of hypocretin peptides in human narcoleptic brains. Nature Med. 6: 991-997, 2000.
[0017275]7863.Siegel, J. M.: Narcolepsy: a key role for hypocretins (orexins). Cell 98: 409-412, 1999.
[0017276]7864.Thannickal, T. C.; Moore, R. Y.; Nienhuis, R.; Ramanathan, L.; Gulyani, S.; Aldrich, M.; Cornford, M.; Siegel, J. M.: Reduced number of hypocretin neurons in human narcolepsy. Neuron 27: 469-474, 2000.
[0017277]7865.Chakrani, F.; Armand, J.-P.; Lenoir, G.; Ju, L.; Liang, J.-P.; May, E.; May, P.: Mutations clustered in exon 5 of the p53 gene in primary nasopharyngeal carcinomas from southeastern Asia. Int. J. Cancer 61: 316-320, 1995.
[0017278]7866.Koufos, A.; Hansen, M. F.; Copeland, N. G.; Jenkins, N. A.; Lampkin, B. C.; Cavenee, W. K.: Loss of heterozygosity in three embryonal tumours suggests a common pathogenetic mechanism. Nature 316: 330-334, 1985.
[0017279]7867.Lam, W. W. K.; Hatada, I.; Ohishi, S.; Mukai, T.; Joyce, J. A.; Cole, T. R. P.; Donnai, D.; Reik, W.; Schofield, P. N.; Maher, E. R.: Analysis of germline CDKN1C (p57-KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation. J. Med. Genet. 36: 518-523, 1999.
[0017280]7868.Eglen, R. M.; Whiting, R. L.: Muscarinic receptor subtypes: a critique of the current classification and a proposal for a working nomenclature. J. Auton. Pharm. 6: 323-346, 1986.
[0017281]7869.Goyal, R. K.: Muscarinic receptor subtypes: physiology and clinical implications. New Eng. J. Med. 321: 1022-1029, 1989.
[0017282]7870.Liao, C. F.; Themmen, A. P.; Joho, R.; Barberis, C.; Birnbaumer, M.; Birnbaumer, L.: Molecular cloning and expression of a fifth muscarinic acetylcholine receptor. J. Biol. Chem. 264: 7328-7337, 1989.
[0017283]7871.Peralta, E. G.; Ashkenazi, A.; Winslow, J. W.; Smith, D. H.; Ramachandran, J.; Capon, D. J.: Distinct primary structures, ligand-binding properties and tissue-specific expression of four human muscarinic acetylcholine receptors. EMBO J. 6: 3923-3929, 1987.
[0017284]7872.Chini, B.; Raimond, E.; Elgoyhen, A. B.; Moralli, D.; Balzaretti, M.; Heinemann, S.: Molecular cloning and chromosomal localization of the human alpha-7-nicotinic receptor subunit gene (CHRNA7). Genomics 19: 379-381, 1994.
[0017285]7873.Doucette-Stamm, L.; Monteggia, L. M.; Donnelly-Roberts, D.; Wang, M. T.; Lee, J.; Tian, J.; Giordano, T.: Cloning and sequence of the human alpha-7 nicotinic acetylcholine receptor. Drug Dev. Res. 30: 252-256, 1993.
[0017286]7874.Elmslie, F.; Williamson, M. P.; Rees, M.; Kerr, M.; Kjeldsen, M. J.; Pang, K. A.; Sundqvist, A.; Friis, M. L.; Chadwick, D.; Richens, A.; Curtis, D.; Whitehouse, W. P.; Gardiner, R. M.: Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q. Medizinische Genetik 9: 15 only, 1997.
[0017287]7875.Freedman, R.; Coon, H.; Myles-Worsley, M.; Orr-Urtreger, A.; Olincy, A.; Davis, A.; Polymeropoulos, M.; Holik, J.; Hopkins, J.; Hoff, M.; Rosenthal, J.; Waldo, M. C.; and 11 others: Linkage of a neurophysiological deficit in schizophrenia to a chromosome 15 locus. Proc. Nat. Acad. Sci. 94: 587-592, 1997.
[0017288]7876.Orr-Urtreger, A.; Seldin, M. F.; Baldini, A.; Beaudet, A. L.: Cloning and mapping of the mouse alpha-7-neuronal nicotinic acetylcholine receptor. Genomics 26: 399-402, 1995.
[0017289]7877.Peng, X.; Katz, M.; Gerzanich, V.; Anand, R.; Lindstrom, J.: Human alpha-7 acetylcholine receptor: cloning of the alpha-7 subunit from the SH-SY5Y cell line and determination of pharmacological properties of native receptors and functional alpha-7 homomers expressed in Xenopus oocytes. Molec. Pharm. 45: 546-554, 1994.
[0017290]7878.Wisniewski, L.; Hassold, T.; Heffelfinger, J.; Higgins, J. V.: Cytogenetic and clinical studies in five cases of inv dup (15). Hum. Genet. 50: 259-270, 1979.
[0017291]7879.Mortier, G. R.; Wilkin, D. J.; Wilcox, W. R.; Rimoin, D. L.; Lachman, R. S.; Eyre, D. R.; Cohn, D. H.: A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (gly691-to-arg) in the type II collagen trimer. Hum. Molec. Genet. 4: 285-288, 1995.
[0017292]7880.Nelson, F.; Dahlberg, L.; Laverty, S.; Reiner, A.; Pidoux, I.; Ionescu, M.; Fraser, G. L.; Brooks, E.; Tanzer, M.; Rosenberg, L. C.; Dieppe, P.; Poole, A. R.: Evidence for altered synthesis of type II collagen in patients with osteoarthritis. J. Clin. Invest. 102: 2115-2125, 1998.
[0017293]7881.Nunez, A. M.; Francomano, C.; Young, M. F.; Martin, G. R.; Yamada, Y.: Isolation and partial characterization of genomic clones coding for a human pro-alpha-1(II) collagen chain and demonstration of restriction fragment length polymorphism at the 3-prime end of the gene. Biochemistry 24: 6343-6348, 1985.
[0017294]7882.Pope, F. M.; Cheah, K. S. E.; Nicholls, A. C.; Price, A. B.; Grosveld, F. G.: Lethal osteogenesis imperfecta congenita and a 300 base pair gene deletion for alpha-1-like collagen. Brit. Med. J. 288: 431-434, 1984.
[0017295]7883.Reginato, A. J.; Passano, G. M.; Neumann, G.; Falasca, G. F.; Diaz-Valdez, M.; Jimenez, S. A.; Williams, C. J.: Familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis associated with an arginine75-to-cysteine mutation in the procollagen type II gene in a kindred of Chiloe Islanders. I. Clinical, radiographic, and pathologic findings. Arthritis Rheum. 37: 1078-1086, 1994.
[0017296]7884.Ritvaniemi, P.; Hyland, J.; Ignatius, J.; Kivirikko, K. I.; Prockop, D. J.; Ala-Kokko, L.: A fourth example suggests that premature termination codons in the COL2A1 gene are a common cause of the Stickler syndrome: analysis of the COL2A1 gene by denaturing gradient gel electrophoresis. Genomics 17: 218-221, 1993.
[0017297]7885.Sangiorgi, F.; Huerre-Jeanpierre, C.; Weil, D.; Grzeschik, K. H.; Junien, C.; Sobel, M.; Ramirez, F.: Chromosomal assignment of the human type II collagen gene. (Abstract) Am. J. Hum. Genet. 36: 208S only, 1984.
[0017298]7886.Sangiorgi, F. O.; Benson-Chanda, V.; de Wet, W. J.; Sobel, M. E.; Tsipouras, P.; Ramirez, F.: Isolation and partial characterization of the entire human pro-alpha-1(II) collagen gene. Nucleic Acids Res. 13: 2207-2225, 1985.
[0017299]7887.Sher, C.; Ramesar, R.; Martell, R.; Learmonth, I.; Tsipouras, P.; Beighton, P.: Mild spondyloepiphyseal dysplasia (Namaqualand type): genetic linkage to the type II collagen gene (COL2A1). Am. J. Hum. Genet. 48: 518-524, 1991.
[0017300]7888.Siggers, D. C.: U. Kniest disease.:In: Bergsma, D. (ed.): Skeletal Dysplasias. New York: American Elsevier 1974. Pg. 432-442.
[0017301]7889.Solomon, E.; Hiorns, L. R.; Cheah, K. S. E.; Parkar, M.; Weiss, E.; Flavell, R. A.: Assignment of a human alpha-1(I)-like collagen gene to chromosome 12, by molecular hybridization. (Abstract) Cytogenet. Cell Genet. 37: 588-589, 1984.
[0017302]7890.Spector, T. D.; Cicuttini, F.; Baker, J.; Loughlin, J.; Hart, D.: Genetic influences on osteoarthritis in women: a twin study. Brit. Med. J. 312: 940-944, 1996.
[0017303]7891.Stoker, N. G.; Cheah, K. S. E.; Griffin, J. R.; Pope, F. M.; Solomon, E.: A highly polymorphic region 3-prime to the human type II collagen gene. Nucleic Acids Res. 13: 4613-4622, 1985.
[0017304]7892.Strom, C. M.: Achondroplasia due to DNA insertion into the type II collagen gene. (Abstract) Pediat. Res. 18: 226A only, 1984.
[0017305]7893.Strom, C. M.; Eddy, R. L.; Shows, T. B.: Localization of human type II procollagen gene (COL2A1) to chromosome 12. Somat. Cell Molec. Genet. 10: 651-655, 1984.
[0017306]7894.Strom, C. M.; Upholt, W. B.: Isolation and characterization of genomic clones corresponding to the human type II procollagen gene. Nucleic Acids Res. 12: 1025-1038, 1984.
[0017307]7895.Sykes, B.; Smith, R.; Vipond, S.; Paterson, C.; Cheah, K.; Solomon, E.: Exclusion of the alpha-1(II) cartilage collagen gene as the mutant locus in type IA osteogenesis imperfecta. J. Med. Genet. 22: 187-191, 1985.
[0017308]7896.Sykes, B. C.; Ogilvie, D. J.; Wordsworth, B. P.: Lethal osteogenesis imperfecta and a collagen gene deletion: length polymorphism provides an alternative explanation. Hum. Genet. 70: 35-37, 1985.
[0017309]7897.Takahashi, E.; Hori, T.; Sutherland, G. R.: Mapping of the human type II collagen gene (COL2A1) proximal to fra(12)(q13.1) by nonisotopic in situ hybridization. Cytogenet. Cell Genet. 54: 84-85, 1990.
[0017310]7898.Griffin, C. A.; McKeon, C.; Israel, M. A.; Gegonne, A.; Ghysdael, J.; Stehelin, D.; Douglass, E. C.; Green, A. A.; Emanuel, B. S.: Comparison of constitutional and tumor-associated 11;22 translocations: nonidentical breakpoints on chromosomes 11 and 22. Proc. Nat. Acad. Sci. 83: 6122-6126, 1986.
[0017311]7899.Mastrangelo, T.; Modena, P.; Tornielli, S.; Bullrich, F.; Testi, M. A.; Mezzelani, A.; Radice, P.; Azzarelli, A.; Pilotti, S.; Croce, C. M.; Pierotti, M. A.; Sozzi, G.: A novel zinc finger gene is fused to EWS in small round cell tumor. Oncogene 19: 3799-3804, 2000.
[0017312]7900.Baden, H. P.; Roth, S. I.; Goldsmith, L. A.; Lee, L. D.: Keratohyalin protein in disorders of keratinization. J. Invest. Derm. 62: 411-414, 1974.
[0017313]7901.Gan, S.-Q.; McBride, O. W.; Idler, W. W.; Markova, N.; Steinert, P. M.: Organization, structure, and polymorphisms of the human profilaggrin gene. Biochemistry 29: 9432-9440, 1990.
[0017314]7902.Holbrook, K. A.; Dale, B. A.; Brown, K. S.: Abnormal epidermal keratinization in the repeated epilation mutant mouse. J. Cell Biol. 92: 387-397, 1982.
[0017315]7903.McKinley-Grant, L. J.; Idler, W. W.; Bernstein, I. A.; Parry, D. A. D.; Cannizzaro, L.; Croce, C. M.; Huebner, K.; Lessin, S. R.; Steinert, P. M.: Characterization of a cDNA clone encoding human filaggrin and localization of the gene to chromosome region 1q21. Proc. Nat. Acad. Sci. 86: 4848-4852, 1989.
[0017316]7904.Rothnagel, J. A.; Longley, M. A.; Bundman, D. S.; Naylor, S. L.; Lalley, P. A.; Jenkins, N. A.; Gilbert, D. J.; Copeland, N. G.; Roop, D. R.: Characterization of the mouse loricrin gene: linkage with profilaggrin and the flaky tail and soft coat mutant loci on chromosome 3. Genomics 23: 450-456, 1994.
[0017317]7905.Sybert, V. P.; Dale, B. A.; Holbrook, K. A.: Ichthyosis vulgaris: identification of a defect in synthesis of filaggrin correlated with an absence of keratohyaline granules. J. Invest. Derm. 84: 191-194, 1985.
[0017318]7906.Volz, A.; Korge, B. P.; Compton, J. G.; Ziegler, A.; Steinert, P. M.; Mischke, D.: Physical mapping of a functional cluster of epidermal differentiation genes on chromosome 1q21. Genomics 18: 92-99, 1993.
[0017319]7907.Barbosa, C. A. A.; Koury, W. H.; Krieger, H.: Linkage data on MN and the Hb beta locus. Am. J. Hum. Genet. 27: 797-801, 1975.
[0017320]7908.Riddell, D. C.; Wang, H.; Umbenhauer, D. R.; Beaume, P. H.; Guengerich, F. P.; Hamerton, J. L.: Regional assignment for the genes encoding human P450IIIA3 (CYP3) and P450IIC9 (CYP2C). (Abstract) Cytogenet. Cell Genet. 46: 682, 1987.
[0017321]7909.Yoder, J. A.; Yen, R.-W. C.; Vertino, P. M.; Bestor, T. H.; Baylin, S. B.: New 5-prime regions of the murine and human genes for DNA (cytosine-5)-methyltransferase. J. Biol. Chem. 271: 31092-31097, 1996.
[0017322]7910.Hofmann, S.; Lichtner, P.; Schuffenhauer, S.; Gerbitz, K.-D.; Meitinger, T.: Assignment of the human genes coding for cytochrome c oxidase subunits Va (COX5A), VIc (COX6C) and VIIc (COX7C) to chromosome bands 15q25, 8q22-q23 and 5q14 and of three pseudogenes (COX5AP1, COX6CP1, COX7CP1) to 14q22, 16p12 and 13q14-q21 by FISH and radiation hybrid mapping. Cytogenet. Cell Genet. 83: 226-227, 1998.
[0017323]7911.Martin-Gallardo, A.; McCombie, W. R.; Gocayne, J. D.; FitzGerald, M. G.; Wallace, S.; Lee, B. M. B.; Lamerdin, J.; Trapp, S.; Kelley, J. M.; Liu, L.-I.; Dubnick, M.; Johnston-Dow, L. A.; Kerlavage, A. R.; de Jong, P.; Carrano, A.; Fields, C.; Venter, J. C.: Automated DNA sequencing and analysis of 106 kilobases from human chromosome 19q13.3. Nature Genet. 1: 34-39, 1992.
[0017324]7912.Volker, M.; Mone, M. J.; Karmakar, P.; van Hoffen, A.; Schul, W.; Vermeulen, W.; Hoeijmakers, J. H. J.; van Driel, R.; van Zeeland, A. A.; Mullenders, L. H. F.: Sequential assembly of the nucleotide excision repair factors in vivo. Molec. Cell 8: 213-224, 2001.
[0017325]7913.Schellens, J. H. M.; Soons, P. A.; Breimer, D. D.: Lack of bimodality in nifedipine plasma kinetics in a large population of healthy subjects. Biochem. Pharm. 37: 2507-2510, 1988.
[0017326]7914.Shet, M. S.; Fisher, C. W.; Holmans, P. L.; Estabrook, R. W.: Human cytochrome P450 3A4: enzymatic properties of a purified recombinant fusion protein containing NADPH-P450 reductase. Proc. Nat. Acad. Sci. 90: 11748-11752, 1993.
[0017327]7915.Shimada, T.; Guengerich, F. P.: Evidence for cytochrome P-450(NF), the nifedipine oxidase, being the principal enzyme involved in the bioactivation of aflatoxins in human liver. Proc. Nat. Acad. Sci. 86: 462-465, 1989.
[0017328]7916.Spurr, N. K.; Gough, A. C.; Stevenson, K.; Wolf, C. R.: The human cytochrome P450 CYP3 locus: assignment to chromosome 7q22-qter. Hum. Genet. 81: 171-174, 1989.
[0017329]7917.Walker, A. H.; Jaffe, J. M.; Gunasegaram, S.; Cummings, S. A.; Huang, C.-S.; Chern, H.-D.; Olopade, O. I.; Weber, B. L.; Rebbeck, T. R.: Characterization of an allelic variant in the nifedipine-specific element of CYP3A4: ethnic distribution and implications for prostate cancer risk. Hum. Mutat. 12: 289-293, 1998.
[0017330]7918.Watkins, P. B.; Wrighton, S. A.; Maurel, P.; Schuetz, E. G.; Mendez-Picon, G.; Parker, G. A.; Guzelian, P. S.: Identification of an inducible form of cytochrome P-450 in human liver. Proc. Nat. Acad. Sci. 82: 6310-6314, 1985.
[0017331]7919.Wolf, C. R.; Smith, C. A. D.; Gough, A. C.; Moss, J. E.; Vallis, K. A.; Howard, G.; Carey, F. J.; Mills, K.; McNee, W.; Carmichael, J.; Spurr, N. K.: Relationship between the debrisoquine hydroxylase polymorphism and cancer susceptibility. Carcinogenesis 13: 1035-1038, 1992.
[0017332]7920.Wrighton, S. A.; Stevens, J. C.: The human hepatic cytochromes P450 involved in drug metabolism. Crit. Rev. Toxicol. 22: 1-21, 1992.
[0017333]7921.Wrighton, S. A.; Vandenbranden, M.: Isolation and characterization of human fetal liver cytochrome P450HLp2: a third member of the P450III gene family. Arch. Biochem. Biophys. 268: 144-151, 1989.
[0017334]7922.Xie, W.; Barwick, J. L.; Downes, M.; Blumberg, B.; Simon, C. M.; Nelson, M. C.; Neuschwander-Tetri, B. A.; Brunt, E. M.; Guzelian, P. S.; Evans, R. M.: Humanized xenobiotic response in mice expressing nuclear receptor SXR. Nature 406: 435-439, 2000.
[0017335]7923.Gray, I. C.; Nobile, C.; Muresu, R.; Ford, S.; Spurr, N. K.: A 2.4-megabase physical map spanning the CYP2C gene cluster on chromosome 10q24. Genomics 28: 328-332, 1995.
[0017336]7924.Guengerich, F. P.; Distlerath, L. M.; Reilly, P. E. B.; Wolff, T.; Shimada, T.; Umbenhauer, D. R.; Martin, M. V.: Human-liver cytochromes P-450 involved in polymorphisms of drug oxidation. Xenobiotica 16: 367-378, 1986.
[0017337]7925.Weinberger, C.; Hollenberg, S. M.; Rosenfeld, M. G.; Evans, R. M.: Domain structure of human glucocorticoid receptor and its relationship to the v-erb-A oncogene product. Nature 318: 670-672, 1985.
[0017338]7926.Colao, A.; Di Somma, C.; Pivonello, R.; Cuocolo, A.; Spinelli, L.; Bonaduce, D.; Salvatore, M.; Lombardi, G.: The cardiovascular risk of adult GH deficiency (GHD) improved after GH replacement and worsened in untreated GHD: a 12-month prospective study. J. Clin. Endocr. Metab. 87: 1088-1093, 2002.
[0017339]7927.Lenka, N.; Vijayasarathy, C.; Mullick, J.; Avadhani, N. G.: Structural organization and transcription regulation of nuclear genes encoding the mammalian cytochrome c oxidase complex. Prog. Nucleic Acid Res. Molec. Biol. 61: 309-344, 1998.
[0017340]7928.Otsuka, M.; Mizuno, Y.; Yoshida, M.; Kagawa, Y.; Ohta, S.: Nucleotide sequence of cDNA encoding human cytochrome c oxidase subunit VIc. Nucleic Acids Res. 16: 10916 only, 1988.
[0017341]7929.Akbari, O.; Freeman, G. J.; Meyer, E. H.; Greenfield, E. A.; Chang, T. T.; Sharpe, A. H.; Berry, G.; DeKruyff, R. H.; Umetsu, D. T.: Antigen-specific regulatory T cells develop via the ICOSICOS-ligand pathway and inhibit allergen-induced airway hyperreactivity. Nature Med. 8: 1024-1032, 2002.
[0017342]7930.Cox, D. R.; Burmeister, M.; Price, E. R.; Kim, S.; Myers, R. M. : Radiation hybrid mapping: a somatic cell genetic method for constructing high-resolution maps of mammalian chromosomes. Science 250: 245-250, 1990.
[0017343]7931.Crawley, J. B.; Williams, L. M.; Mander, T.; Brennan, F. M.; Foxwell, B. M.: Interleukin-10 stimulation of phosphatidylinositol 3-kinase and p70 S6 kinase is required for the proliferative but not the antiinflammatory effects of the cytokine. J. Biol. Chem. 271: 16357-16362, 1996.
[0017344]7932.Eskdale, J.; Gallagher, G.; Verweij, C. L.; Keijsers, V.; Westendorp, R. G. J.; Huizinga, T. W. J.: Interleukin 10 secretion in relation to human IL-10 locus haplotypes. Proc. Nat. Acad. Sci. 95: 9465-9470, 1998.
[0017345]7933.Eskdale, J.; Kube, D.; Tesch, H.; Gallagher, G.: Mapping of the human IL10 gene and further characterization of the 5-prime flanking sequence. Immunogenetics 46: 120-128, 1997.
[0017346]7934.Farmer, M. A.; Sundberg, J. P.; Bristol, I. J.; Churchill, G. A.; Li, R.; Elson, C. O.; Leiter, E. H.: A major quantitative trait locus on chromosome 3 controls colitis severity in IL-10-deficient mice. Proc. Nat. Acad. Sci. 98: 13820-13825, 2001.
[0017347]7935.Franchimont, D.; Martens, H.; Hagelstein, M.-T.; Louis, E.; Dewe, W.; Chrousos, G. P.; Belaiche, J.; Geenen, V.: Tumor necrosis factor alpha decreases, and interleukin-10 increases, the sensitivity of human monocytes to dexamethasone: potential regulation of the glucocorticoid receptor. J. Clin. Endocr. Metab. 84: 2834-2839, 1999.
[0017348]7936.Gesser, B.; Leffers, H.; Jinquan, T.; Vestergaard, C.; Kirstein, N.; Sindet-Pedersen, S.; Jensen, S. L.; Thestrup-Pedersen, K.; Larsen, C. G.: Identification of functional domains on human interleukin 10. Proc. Nat. Acad. Sci. 94: 14620-14625, 1997.
[0017349]7937.Gibson, A. W.; Edberg, J. C.; Wu, J.; Westendorp, R. G. J.; Huizinga, T. W. J.; Kimberly, R. P.: Novel single nucleotide polymorphisms in the distal IL-10 promoter affect IL-10 production and enhance the risk of systemic lupus erythematosus. J. Immun. 166: 3915-3922, 2001.
[0017350]7938.Goudy, K.; Song, S.; Wasserfall, C.; Zhang, Y. C.; Kapturczak, M.; Muir, A.; Powers, M.; Scott-Jorgensen, M.; Campbell-Thompson, M.; Crawford, J. M.; Ellis, T. M.; Flotte, T. R.; Atkinson, M. A. : Adeno-associated virus vector-mediated IL-10 gene delivery prevents type 1 diabetes in NOD mice. Proc. Nat. Acad. Sci. 98: 13913-13918, 2001.
[0017351]7939.Grove, J.; Daly, A. K.; Bassendine, M. F.; Gilvarry, E.; Day, C. P.: Interleukin 10 promoter region polymorphisms and susceptibility to advanced alcoholic liver disease. Gut 46: 540-545, 2000.
[0017352]7940.Kim, J. M.; Brannan, C. I.; Copeland, N. G.; Jenkins, N. A.; Khan, T. A.; Moore, K. W.: Structure of the mouse Il-10 gene and chromosomal localization of the mouse and human genes. J. Immun. 148: 3618-3623, 1992.
[0017353]7941.Kitagawa, N.; Goto, M.; Kurozumi, K.; Maruo, S.; Fukayama, M.; Naoe, T.; Yasukawa, M.; Hino, K.; Suzuki, T.; Todo, S.; Takada, K. : Epstein-Barr virus-encoded poly(A)- RNA supports Burkitt's lymphoma growth through interleukin-10 induction. EMBO J. 19: 6742-6750, 2000.
[0017354]7942.Kuhn, R.; Lohler, J.; Rennick, D.; Rajewsky, K.; Muller, K.: Interleukin-10-deficient mice develop chronic enterocolitis. Cell 75: 263-274, 1993.
[0017355]7943.Lee, T.-S.; Chau, L.-Y.: Heme oxygenase-1 mediates the anti-inflammatory effect of interleukin-10 in mice. Nature Med. 8: 240-246, 2002.
[0017356]7944.Meng, X.; Sawamura, D.; Tamai, K.; Hanada, K.; Ishida, H.; Hashimoto, I.: Keratinocyte gene therapy for systemic diseases: circulating interleukin 10 released from gene-transferred keratinocytes inhibits contact hypersensitivity at distant areas of the skin. J. Clin. Invest. 101: 1462-1467, 1998.
[0017357]7945.Pinderski Oslund, L. J.; Hedrick, C. C.; Olvera, T.; Hagenbaugh, A.; Territo, M.; Berliner, J. A.; Fyfe, A. I.: Interleukin-10 blocks atherosclerotic events in vitro and in vivo. Arterioscler. Thromb. Vasc. Biol. 19: 2847-2853, 1999.
[0017358]7946.Rosenwasser, L. J.; Borish, L.: Genetics of atopy and asthma: the rationale behind promoter-based candidate gene studies (IL-4 and IL-10). Am. J. Resp. Crit. Care Med. 156: S152-S155, 1997.
[0017359]7947.Shin, H. D.; Winkler, C.; Stephens, J. C.; Bream, J.; Young, H.; Goedert, J. J.; O'Brien, T. R.; Vlahov, D.; Buchbinder, S.; Giorgi, J.; Rinaldo, C.; Donfield, S.; Willoughby, A.; O'Brien, S. J.; Smith, M. W.: Genetic restriction of HIV-1 pathogenesis to AIDS by promoter alleles of IL10. Proc. Nat. Acad. Sci. 97: 14467-14472, 2000.
[0017360]7948.Terkeltaub, R. A.: IL-10: an 'immunologic scalpel' for atherosclerosis? (Editorial) Atheroscler. Thromb. Vasc. Biol. 19: 2823-2825, 1999.
[0017361]7949.Turner, D. M.; Williams, D. M.; Sankaran, D.; Lazarus, M.; Sinnott, P. J.; Hutchinson, I. V.: An investigation of polymorphism in the interleukin-10 gene promoter. Europ. J. Immunogenet. 24: 1-8, 1997.
[0017362]7950.Vieira, P.; de Waal-Malefyt, R.; Dang, M.-N.; Johnson, K. E.; Kastelein, R.; Fiorentino, D. F.; deVries, J. E.; Roncarolo, M.-G.; Mosmann, T. R.; Moore, K. W.: Isolation and expression of human cytokine synthesis inhibitory factor cDNA clones: homology to Epstein-Barr virus open reading frame BCRFI. Proc. Nat. Acad. Sci. 88: 1172-1176, 1991.
[0017363]7951.Westendorp, R. G. J.; Langermans, J. A. M.; Huizinga, T. W. G.; Elouali, A. H.; Boomsma, D. I.; Verweij, C. L.; Vandenbroucke, J. P.: Genetic influence on cytokine production and fatal meningococcal disease. Lancet 349: 170-173, 1997.
[0017364]7952.Armstrong, E.; Cannizzaro, L.; Bergman, M.; Huebner, K.; Alitalo, K.: The c-src tyrosine kinase (CSK) gene, a potential antioncogene, localizes to human chromosome region 15q23-q25. Cytogenet. Cell Genet. 60: 119-120, 1992.
[0017365]7953.Cloutier, J.-F.; Veillette, A.: Association of inhibitory tyrosine protein kinase p50(csk) with protein tyrosine phosphatase PEP in T cells and other hemopoietic cells. EMBO J. 15: 4909-4918, 1996.
[0017366]7954.Partanen, J.; Armstrong, E.; Bergman, M.; Makela, T. P.; Hirvonen, H.; Huebner, K.; Alitalo, K.: Cyl encodes a putative cytoplasmic tyrosine kinase lacking the conserved tyrosine autophosphorylation site (Y416-src). Oncogene 6: 2013-2018, 1991.
[0017367]7955.Morison, I. M.; Becroft, D. M.; Taniguchi, T.; Woods, C. G.; Reeve, A. E.: Somatic overgrowth associated with overexpression of insulin-like growth factor II. Nature Med. 2: 311-316, 1996.
[0017368]7956.Porteous, D. J.; Bickmore, W.; Christie, S.; Boyd, P. A.; Cranston, G.; Fletcher, J. M.; Gosden, J. R.; Rout, D.; Seawright, A.; Simola, K. O. J.; van Heyningen, V.; Hastie, N. D.: HRAS1-selected chromosome transfer generates markers that colocalize aniridia- and genitourinary dysplasia-associated translocation breakpoints and the Wilms tumor gene within band 11p13. Proc. Nat. Acad. Sci. 84: 5355-5359, 1987.
[0017369]7957.van Heyningen, V.; Bickmore, W. A.; Seawright, A.; Fletcher, J. M.; Maule, J.; Fekete, G.; Gessler, M.; Bruns, G. A. P.; Huerre-Jeanpierre, C.; Junien, C.; Williams, B. R. G.; Hastie, N. D.: Role for the Wilms tumor gene in genital development? Proc. Nat. Acad. Sci. 87: 5383-5386, 1990.
[0017370]7958.Webster, A. D. B.; Barnes, D. E.; Arlett, C. F.; Lehmann, A. R.; Lindahl, T.: Growth retardation and immunodeficiency in a patient with mutations in the DNA ligase I gene. Lancet 339: 1508-1509, 1992.
[0017371]7959.Webster, D.; Arlett, C. F.; Harcourt, S. A.; Teo, I.; Henderson, L.: A new syndrome of immunodeficiency and increased cellular sensitivity to DNA damaging agents.In: Bridges, B. A.; Harnden, D. G.: Ataxia-telangiectasia: A Cellular and Molecular Link between Cancer, Neuropathology, and Immune Deficiency. New York: John Wiley (pub.) 1982. Pp. 379-386.
[0017372]7960.Ahuja, H. G.; Felix, C. A.; Aplan, P. D.: The t(11;20)(p15;q11) chromosomal translocation associated with therapy-related myelodysplastic syndrome results in an NUP98-TOP1 fusion. Blood 94: 3258-3261, 1999.
[0017373]7961.Baumgartner, B.; Klett, C.; Hameister, H.; Richter, A.; Knippers, R.: Mouse genes encoding DNA topoisomerase I. Mammalian Genome 5: 19-25, 1994.
[0017374]7962.Chang, J.-Y.; Liu, J.-F.; Juang, S.-H.; Liu, T.-W.; Chen, L.-T. : Novel mutation of topoisomerase I in rendering cells resistant to camptothecin. Cancer Res. 62: 3716-3721, 2002.
[0017375]7963.D'Arpa, P.; Machlin, P. S.; Ratrie, H., III; Rothfield, N. F.; Cleveland, D. W.; Earnshaw, W. C.: cDNA cloning of human DNA topoisomerase I: catalytic activity of a 67.7-kDa carboxyl-terminal fragment. Proc. Nat. Acad. Sci. 85: 2543-2547, 1988.
[0017376]7964.Juan, C.-C.; Hwang, J.; Liu, A. A.; Whang-Peng, J.; Knutsen, T.; Huebner, K.; Croce, C. M.; Zhang, H.; Wang, J. C.; Liu, L. F.: Human DNA topoisomerase I is encoded by a single-copy gene that maps to chromosome region 20q12-13.2. Proc. Nat. Acad. Sci. 85: 8910-8913, 1988.
[0017377]7965.Kunze, N.; Yang, G.; Dolberg, M.; Sundarp, R.; Knippers, R.; Richter, A.: Structure of the human type I DNA topoisomerase gene. J. Biol. Chem. 266: 9610-9616, 1991.
[0017378]7966.Kunze, N.; Yang, G. C.; Jiang, Z. Y.; Hameister, H.; Adolph, S.; Wiedorn, K.-H.; Richter, A.; Knippers, R.: Localization of the active type I DNA topoisomerase gene on human chromosome 20q11.2-13.1, and two pseudogenes on chromosomes 1q23-24 and 22q11.2-13.1. Hum. Genet. 84: 6-10, 1989.
[0017379]7967.Tamura, H.; Kohchi, C.; Yamada, R.; Ikeda, T.; Koiwai, O.; Patterson, E.; Keene, J. D.; Okada, K.; Kjeldsen, E.; Nishikawa, K.; Andoh, T. : Molecular cloning of a cDNA of a camptothecinresistant human DNA topoisomerase I and identification of mutation sites. Nucleic Acids Res. 19: 69-75, 1991.
[0017380]7968.Siciliano, M. J.; Bachinski, L.; Dolf, G.; Carrano, A. V.; Thompson, L. H.: Chromosomal assignments of human DNA repair genes that complement Chinese hamster ovary (CHO) cell mutants. (Abstract) Cytogenet. Cell Genet. 46: 691-692, 1987.
[0017381]7969.Thompson, L. H.; Carrano, A. V.; Sato, K.; Salazar, E. P.; White, B. F.; Stewart, S. A.; Minkler, J. L.; Siciliano, M. J.: Identification of nucleotide-excision-repair genes on human chromosomes 2 and 13 by functional complementation in hamster-human hybrids. Somat. Cell Molec. Genet. 13: 539-551, 1987.
[0017382]7970.Brandi, M. L.; Gagel, R. F.; Angeli, A.; Bilezikian, J. P.; Beck-Peccoz, P.; Bordi, C.; Conte-Devolx, B.; Falchetti, A.; Gheri, R. G.; Libroia, A.; Lips, C. J. M.; Lombardi, G.; and 12 others: Guidelines for diagnosis and therapy of MEN type 1 and type 2. J. Clin. Endocr. Metab. 86: 5658-5671, 2001.
[0017383]7971.Buchta, R. M.; Kaplan, J. M.: Zollinger-Ellison syndrome in a nine-year-old child: a case report and review of the entity in childhood. Pediatrics 47: 594-598, 1971.
[0017384]7972.Bystrom, C.; Larsson, C.; Blomberg, C.; Sandelin, K.; Falkmer, U.; Skogseid, B.; Oberg, K.; Werner, S.; Nordenskjold, M.: Localization of the MEN1 gene to a small region within chromosome 11q13 by deletion mapping in tumors. Proc. Nat. Acad. Sci. 87: 1968-1972, 1990.
[0017385]7973.Carling, T.; Correa, P.; Hessman, O.; Hedberg, J.; Skogseid, B.; Lindberg, D.; Rastad, J.; Westin, G.; Akerstrom, G.: Parathyroid MEN1 gene mutations in relation to clinical characteristics of nonfamilial primary hyperparathyroidism. J. Clin. Endocr. Metab. 83: 2960-2963, 1998.
[0017386]7974.Cebrian, A.; Herrera-Pombo, J. L.; Diez, J. J.; Sanchez-Vilar, O.; Lara, J. I.; Vazquez, C.; Pico, A.; Osorio, A.; Martinez-Delgado, B.; Benitez, J.; Robledo, M.: Genetic and clinical analysis in 10 Spanish patients with multiple endocrine neoplasia type 1. Europ. J. Hum. Genet. 7: 585-589, 1999.
[0017387]7975.Chedid, A.; Hoversland, R. C.; Chejfec, G.; McCune, S. A.; Jurin, R. R.; Evans, E. E.: Hereditary pituitary prolactinomas: a new rat model. Acta Endocr. 119: 535-542, 1988.
[0017388]7976.Cocco, A. E.; Conway, S. J.: Zollinger-Ellison syndrome associated with ovarian mucinous cystadenocarcinoma. New Eng. J. Med. 293: 485-486, 1975.
[0017389]7977.Crabtree, J. S.; Scacheri, P. C.; Ward, J. M.; Garrett-Beal, L.; Emmert-Buck, M. R.; Edgemon, K. A.; Lorang, D.; Libutti, S. K.; Chandrasekharappa, S. C.; Marx, S. J.; Spiegel, A. M.; Collins, F. S.: A mouse model of multiple endocrine neoplasia, type 1, develops multiple endocrine tumors. Proc. Nat. Acad. Sci. 98: 1118-1123, 2001.
[0017390]7978.Cutler, R. E.; Reiss, E.; Ackerman, L. V.: Familial hyperparathyroidism: a kindred involving eleven cases, with a discussion of primary chief-cell hyperplasia. New Eng. J. Med. 270: 859-865, 1964.
[0017391]7979.Chandrasekharappa, S. C.; Guru, S. C.; Manickam, P.; Olufemi, S.-E.; Collins, F. S.; Emmert-Buck, M. R.; Debelenko, L. V.; Zhuang, Z.; Lubensky, I. A.; Liotta, L. A.; Crabtree, J. S.; Wang, Y.; Roe, B. A.; Weisemann, J.; Boguski, M. S.; Agarwal, S. K.; Kester, M. B.; Kim, Y. S.; Heppner, C.; Dong, Q.; Spiegel, A. M.; Burns, A. L.; Marx, S. J.: Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science 276: 404-406, 1997.
[0017392]7980.Darling, T. N.; Skarulis, M. C.; Steinberg, S. M.; Marx, S. J.; Spiegel, A. M.; Turner, M.: Multiple facial angiofibromas and collagenomas in patients with multiple endocrine neoplasia type 1. Arch. Derm. 133: 853-857, 1997.
[0017393]7981.Debelenko, L. V.; Brambilla, E.; Agarwal, S. K.; Swalwell, J. I.; Kester, M. B.; Lubensky, I. A.; Zhuang, Z.; Guru, S. C.; Manickam, P.; Olufemi, S.-E.; Chandrasekharappa, S. C.; Crabtree, J. S.; Kim, Y. S.; Heppner, C.; Burns, A. L.; Spiegel, A. M.; Marx, S. J.; Liotta, L. A.; Collins, F. S.; Travis, W. D.; Emmert-Buck, M. R.: Identification of MEN1 gene mutations in sporadic carcinoid tumors of the lung. Hum. Molec. Genet. 6: 2285-2290, 1997.
[0017394]7982.Deveney, C. W.; Deveney, K. S.; Way, L. W.: The Zollinger-Ellison syndrome--23 years later. Ann. Surg. 188: 384-391, 1978.
[0017395]7983.Ellison, E. H.; Wilson, S. D.: The Zollinger-Ellison syndrome. Re-appraisal and evaluation of 260 registered cases. Ann. Surg. 160: 512-530, 1964.
[0017396]7984.Ellison, E. H.; Wilson, S. D.: The Zollinger-Ellison syndrome updated. Surg. Clin. N. Am. 47: 1115-1124, 1967.
[0017397]7985.Farid, N. R.: Personal Communication. St. John's, Newfoundland, Canada 7/28/1980.
[0017398]7986.Farid, N. R.: Personal Communication. Riyadh, Saudi Arabia 1/11/1994.
[0017399]7987.Farid, N. R.; Buehler, S.; Russell, N. A.; Maroun, F. B.; Allerdice, P.; Smyth, H. S.: Prolactinomas in familial multiple endocrine neoplasia syndrome type I: relationship to HLA and carcinoid tumors. Am. J. Med. 69: 874-880, 1980.
[0017400]7988.Farnebo, F.; Teh, B. T.; Kytola, S.; Svensson, A.; Phelan, C.; Sandelin, K.; Thompson, N. W.; Hoog, A.; Weber, G.; Farnebo, L.-O.; Larsson, C.: Alterations of the MEN1 gene in sporadic parathyroid tumors. J. Clin. Endocr. Metab. 83: 2627-2630, 1998.
[0017401]7989.Friesen, S. R.; Schimke, R. N.; Pearse, A. G. E.: Genetic aspects of the Z-E syndrome: prospective studies in two kindred: antral gastrin cell hyperplasia. Ann. Surg. 176: 370-383, 1972.
[0017402]7990.Fujimori, M.: Personal Communication. Matsumoto, Japan 1/5/1999.
[0017403]7991.Fujimori, M.; Shirahama, S.; Sakurai, A.; Hashizume, K.; Hama, Y.; Ito, K.; Shingu, K.; Kobayashi, S.; Amano, J.; Fukushima, Y.: Novel V184E MEN1 germline mutation in a Japanese kindred with familial hyperparathyroidism. Am. J. Med. Genet. 80: 221-222, 1998.
[0017404]7992.Fujimori, M.; Wells, S. A., Jr.; Nakamura, Y.: Fine-scale mapping of the gene responsible for multiple endocrine neoplasia type 1 (MEN1). Am. J. Hum. Genet. 50: 399-403, 1992.
[0017405]7993.Friedman, E.; Sakaguchi, K.; Bale, A. E.; Falchetti, A.; Streeten, E.; Zimering, M. B.; Weinstein, L. S.; McBride, W. O.; Nakamura, Y.; Brandi, M.-L.; Norton, J. A.; Aurbach, G. D.; Spiegel, A. M.; Marx, S. J.: Clonality of parathyroid tumors in familial multiple endocrine neoplasia type 1. New Eng. J. Med. 321: 213-218, 1989. Note: Erratum: New Eng. J. Med. 321: 1057 only, 1989...
[0017406]7994.Gaitan, D.; Loosen, P. T.; Orth, D. N.: Two patients with Cushing's disease in a kindred with multiple endocrine neoplasia type I. J. Clin. Endocr. Metab. 76: 1580-1582, 1993.
[0017407]7995.Giraud, S.; Zhang, C. X.; Serova-Sinilnikova, O.; Wautot, V.; Salandre, J.; Buisson, N.; Waterlot, C.; Bauters, C.; Porchet, N.; Aubert, J.-P.; Emy, P.; Cadiot, G.; and 29 others: Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders. Am. J. Hum. Genet. 63: 455-467, 1998.
[0017408]7996.Gisselsson, D.; Hoglund, M.; Mertens, F.; Del Cin, P.; Mandahl, N.: Hibernomas are characterized by homozygous deletions in the multiple endocrine neoplasia type I region: metaphase fluorescence in situ hybridization reveals complex rearrangements not detected by conventional cytogenetics. Am. J. Path. 155: 61-66, 1999.
[0017409]7997.Olson, S.; Wang, M. G.; Carafoli, E.; Strehler, E. E.; McBride, O. W.: Localization of two genes encoding plasma membrane Ca(2+)-transporting ATPases to human chromosomes 1q25-32 and 12q21-23. Genomics 9: 629-641, 1991.
[0017410]7998.Brandt, P.; Ibrahim, E.; Bruns, G. A. P.; Neve, R. L.: Determination of the nucleotide sequence and chromosomal localization of the ATP2B2 gene encoding human Ca(2+)-pumping ATPase isoform PMCA2. Genomics 14: 484-487, 1992.
[0017411]7999.Kozel, P. J.; Friedman, R. A.; Erway, L. C.; Yamoah, E. N.; Liu, L. H.; Riddle, T.; Duffy, J. J.; Doetschman, T.; Miller, M. L.; Cardell, E. L.; Shull, G. E.: Balance and hearing deficits in mice with a null mutation in the gene encoding plasma membrane Ca(2+)-ATPase isoform 2. J. Biol. Chem. 273: 18693-18696, 1998.
[0017412]8000.Richards, F. M.; Phipps, M. E.; Latif, F.; Yao, M.; Crossey, P. A.; Foster, K.; Linehan, W. M.; Affara, N. A.; Lerman, M. I.; Zbar, B.; Ferguson-Smith, M. A.; Maher, E. R.: Mapping the von Hippel-Lindau disease tumour suppressor gene: identification of germline deletions by pulsed field gel electrophoresis. Hum. Molec. Genet. 2: 879-882, 1993.
[0017413]8001.Street, V. A.; McKee-Johnson, J. W.; Fonseca, R. C.; Tempel, B. L.; Noben-Trauth, K.: Mutations in a plasma membrane Ca(2+)-ATPase gene cause deafness in deafwaddler mice. Nature Genet. 19: 390-394, 1998.
[0017414]8002.Wang, M. G.; Yi, H.; Hilfiker, H.; Carafoli, E.; Strehler, E. E.; McBride, O. W.: Localization of two genes encoding plasma membrane Ca(2+)-ATPases isoforms 2 (ATP2B2) and 3 (ATP2B3) to human chromosomes 3p26-p25 and Xq28, respectively. Cytogenet. Cell Genet. 67: 41-45, 1994.
[0017415]8003.Shi, G.-P.; Munger, J. S.; Meara, J. P.; Rich, D. H.; Chapman, H. A.: Molecular cloning and expression of human alveolar macrophage cathepsin S, an elastinolytic cysteine protease. J. Biol. Chem. 267: 7258-7262, 1992.
[0017416]8004.Shi, G.-P.; Webb, A. C.; Foster, K. E.; Knoll, J. H. M.; Lemere, C. A.; Munger, J. S.; Chapman, H. A.: Human cathepsin S: chromosomal localization, gene structure, and tissue distribution. J. Biol. Chem. 269: 11530-11536, 1994.
[0017417]8005.Berube, D.; Luu-The, V.; Simard, J.; Gagne, R.; Labrie, F.: Localization of the betaestradiol dehydrogenase genes to q11-q12 of chromosome 17. (Abstract) Cytogenet. Cell Genet. 51: 962 only, 1989.
[0017418]8006.Geissler, W. M.; Davis, D. L.; Wu, L.; Bradshaw, K. D.; Patel, S.; Mendonca, B. B.; Elliston, K. O.; Wilson, J. D.; Russell, D. W.; Andersson, S.: Male pseudohermaphroditism caused by mutations of testicular 17-beta-hydroxysteroid dehydrogenase 3. Nature Genet. 7: 34-39, 1994.
[0017419]8007.Green, V. L.; Speirs, V.; Landolt, A. M., Foy, P. M.; Atkin, S. L.: 17-betahydroxysteroid dehydrogenase type 1, 2, 3, and 4 expression and enzyme activity in human anterior pituitary adenomas. J. Clin. Endocr. Metab. 84: 1340-1345, 1999.
[0017420]8008.Harkness, R. A.; Thistlethwaite, D.; Darling, J. A. B.; Skakkebaek, N. E.; Corker, C. S.: Neutral 17-beta-hydroxysteroid oxidoreductase deficiency in testes causing male pseudohermaphroditism in an infant. J. Inherit. Metab. Dis. 2: 51-54, 1979.
[0017421]8009.Huang, Y.-W.; Pineau, I.; Chang, H.-J.; Azzi, A.; Bellemare, V.; Laberge, S.; Lin, S.-X.: Critical residues for the specificity of cofactors and substrates in human estrogenic 17-betahydroxysteroid dehydrogenase 1: variants designed from the three-dimensional structure of the enzyme. Molec. Endocr. 15: 2010-2020, 2001.
[0017422]8010.Luu-The, V.; Labrie, C.; Simard, J.; Lachance, Y.; Zhao, H.-F.; Couet, J.; Leblanc, G.; Labrie, F.: Structure of two in tandem human 17-beta-hydroxysteroid dehydrogenase genes. Molec. Endocr. 4: 268-275, 1990.
[0017423]8011.Migeon, C. J.: Personal Communication. Baltimore, Md. 10/29/1990.
[0017424]8012.Normand, T.; Narod, S.; Labrie, F.; Simard, J.: Detection of polymorphisms in the estradiol 17-beta-hydroxysteroid dehydrogenase II gene at the EDH17B2 locus on 17q11-q21. Hum. Molec. Genet. 2: 479-483, 1993.
[0017425]8013.Russell, D. W.: Personal Communication. Dallas, Texas 5/9/1994.
[0017426]8014.Tremblay, Y.; Ringler, G. E.; Morel, Y.; Mohandas, T. K.; Labrie, F.; Strauss, J. F., III; Miller, W. L.: Regulation of the gene for estrogenic 17-ketosteroid reductase lying on chromosome 17cen-q25. J. Biol. Chem. 264: 20458-20462, 1989.
[0017427]8015.Winqvist, R.; Peltoketo, H.; Isomaa, V.; Grzeschik, K. H.; Mannermaa, A.; Vihko, R.: The gene for 17-beta-hydroxysteroid dehydrogenase maps to human chromosome 17, bands q12-q21, and shows an RFLP with ScaI. Hum. Genet. 85: 473-476, 1990.
[0017428]8016.Casey, M. L.; MacDonald, P. C.; Andersson, S.: 17-beta-hydroxysteroid dehydrogenase type 2: chromosomal assignment and progestin regulation of gene expression in human endometrium. J. Clin. Invest. 94: 2135-2141, 1994.
[0017429]8017.Durocher, F.; Morissette, J.; Labrie, Y.; Labrie, F.; Simard, J. : Mapping of the HSD17B2 gene encoding type II 17-beta-hydroxysteroid dehydrogenase close to D16S422 on chromosome 16q24.1-q24.2. Genomics 25: 724-726, 1995.
[0017430]8018.Bouillaud, F.; Villarroya, F.; Hentz, E.; Raimbault, S.; Cassard, A.-M.; Ricquier, D.: Detection of brown adipose tissue uncoupling protein mRNA in adult patients by a human genomic probe. Clin. Sci. 75: 21-27, 1988.
[0017431]8019.Bouillaud, F.; Weissenbach, J.; Ricquier, D.: Complete cDNA-derived amino acid sequence of rat brown fat uncoupling protein. J. Biol. Chem. 261: 1487-1491, 1986.
[0017432]8020.Cassard, A. M.; Bouillaud, F.; Mattei, M. G.; Hentz, E.; Raimbault, S.; Thomas, M.; Ricquier, D.: Human uncoupling protein gene: structure, comparison with rat gene, and assignment to the long arm of chromosome 4. J Cell Biochem. 43: 255-64, 1990.
[0017433]8021.Echtay, K. S.; Roussel, D.; St-Pierre, J.; Jekabsons, M. B.; Cadenas, S.; Stuart, J. A.; Harper, J. A.; Roebuck, S. J.; Morrison, A.; Pickering, S.; Clapham, J. C.; Brand, M. D.: Superoxide activates mitochondrial uncoupling proteins. Nature 415: 96-99, 2002.
[0017434]8022.Echtay, K. S.; Winkler, E.; Klingenberg, M.: Coenzyme Q is an obligatory cofactor for uncoupling protein function. Nature 408: 609-613, 2000.
[0017435]8023.J. Cell. Biochem. 43: 255-264, 1990. 4. Clement, K.; Ruiz, J.; Cassard-Doulcier, A. M.; Bouillaud, F.; Ricquier, D.; Basdevant, A.; Guy-Grand, B.; Froguel, P.: Additive effect of A-G (-3826) variant of the uncoupling protein gene and the trp64arg mutation of the beta 3-adrenergic receptor gene on weight gain in morbid obesity. Int. J. Obes. Relat. Metab. Disord. 20: 1062-1066, 1996.
[0017436]8024.Enerback, S.; Jacobsson, A.; Simpson, E. M.; Guerra, C.; Yamashita, H.; Harper, M.-E.; Kozak, L. P.: Mice lacking mitochondrial uncoupling protein are cold-sensitive but not obese. Nature 387: 90-93, 1997.
[0017437]8025.Fletcher, C.; Norman, D. J.; Germond, E.; Heintz, N.: A multilocus linkage map of mouse chromosome 8. Genomics 9: 737-741, 1991.
[0017438]8026.Jacobson, A.; Stadler, U.; Glotzer, M. A.; Kozak, L. P.: Mitochondrial uncoupling protein from mouse brown fat: molecular cloning, genetic mapping and mRNA expression. J. Biol. Chem. 260: 16250-16254, 1985.
[0017439]8027.Lowell, B. B.; S-Susulic, V.; Hamann, A.; Lawitts, J. A.; Himms-Hagen, J.; Boyer, B. B.; Kozak, L. P.; Flier, J. S.: Development of obesity in transgenic mice after genetic ablation of brown adipose tissue. Nature 366: 740-742, 1993.
[0017440]8028.Oppert, J. M.; Vohl, M. C.; Chagnon, M.; Dionne, F. T.; Cassard-Doulcier, A. M.; Ricquier, D.; Perusse, L.; Bouchard, C.: DNA polymorphism in the uncoupling protein (UCP) gene and human body fat. Int. J. Obes. Relat. Metab. Disord. 18: 526-531, 1994.
[0017441]8029.Ridley, R. G.; Patel, H. V.; Gerber, G. E.; Morton, R. C.; Freeman, K. B.: Complete nucleotide and derived amino acid sequence of cDNA encoding the mitochondrial uncoupling protein of rat brown adipose tissue: lack of mitochondrial targeting presequence. Nucleic Acids Res. 14: 4025-4035, 1986.
[0017442]8030.Urhammer, S. A.; Fridberg, M.; Sorensen, T. I.; Echwald, S. M.; Andersen, T.; Tybjaerg-Hansen, A.; Clausen, J. O.; Pedersen, O.: Studies of genetic variability of the uncoupling protein 1 gene in Caucasian subjects with juvenile-onset obesity. J. Clin. Endocr. Metab. 82: 4069-4074, 1997.
[0017443]8031.Reich, C. B.; Franklin, E. C.: Familial Mediterranean fever in an Italian family. Arch. Intern. Med. 125: 337-340, 1970.
[0017444]8032.Di Marzo, V.; Goparaju, S. K.; Wang, L.; Liu, J.; Batkai, S.; Jarai, Z.; Fezza, F.; Miura, G. I.; Palmiter, R. D.; Sugiura, T.; Kunos, G.: Leptin-regulated endocannabinoids are involved in maintaining food intake. Nature 410: 822-825, 2001.
[0017445]8033.Gerard, C. M.; Mollereau, C.; Vassart, G.; Parmentier, M.: Molecular cloning of a human cannabinoid receptor which is also expressed in testis. Biochem. J. 279: 129-134, 1991.
[0017446]8034.Hoehe, M. R.; Caenazzo, L.; Martinez, M. M.; Hsieh, W.-T.; Modi, W. S.; Gershon, E. S.; Bonner, T. I.: Genetic and physical mapping of the human cannabinoid receptor gene to chromosome 6q14-q15. New Biologist 3: 880-885, 1991.
[0017447]8035.Ledent, C.; Valverde, O.; Cossu, G.; Petitet, F.; Aubert, J.-F.; Beslot, F.; Bohme, G. A.; Imperato, A.; Pedrazzini, T.; Roques, B. P.; Vassart, G.; Fratta, W.; Parmentier, M.: Unresponsiveness to cannabinoids and reduced addictive effects of opiates in CB(1) receptor knockout mice. Science 283 401-404, 1999.
[0017448]8036.Marsicano, G.; Wotjak, C. T.; Azad, S. C.; Bisogno, T.; Rammes, G.; Cascio, M. G.; Hermann, H.; Tang, J.; Hofmann, C.; Zieglgansberger, W.; Di Marzo, V.; Lutz, B.: The endogenous cannabinoid system controls extinction of aversive memories. Nature 418: 530-534, 2002.
[0017449]8037.Matsuda, L. A.; Lolait, S. J.; Brownstein, M. J.; Young, A. C.; Bonner, T. I.: Structure of a cannabinoid receptor and functional expression of the cloned cDNA. Nature 346: 561-564, 1990.
[0017450]8038.Modi, W. S.; Bonner, T. I.: Localization of the cannabanoid (sic) receptor locus using non-isotopic in situ hybridization. (Abstract) Cytogenet. Cell Genet. 58: 1915 only, 1991.
[0017451]8039.Panikashvili, D.; Simeonidou, C.; Ben-Shabat, S.; Hanus, L.; Breuer, A.; Mechoulam, R.; Shohami, E.: An endogenous cannabinoid (2-AG) is neuroprotective after brain injury. Nature 413: 527-531, 2001.
[0017452]8040.Beechey, C.; Tweedie, S.; Spurr, N.; Ball, S.; Peters, J.; Edwards, Y.: Mapping of mouse carbonic anhydrase-3, Car-3: another locus in the homologous region of mouse chromosome 3 and human chromosome 8. Genomics 6: 692-696, 1990.
[0017453]8041.Carter, N.; Jeffery, S.; Shiels, A.; Edwards, Y.; Tipler, T.; Hopkinson, D. A.: Characterization of human carbonic anhydrase III from skeletal muscle. Biochem. Genet. 17: 837-854, 1979.
[0017454]8042.Edwards, Y. H.; Lloyd, J.; Parkar, M.; Povey, S.: Human muscle specific carbonic anhydrase, CA3, is on chromosome 8. (Abstract) Cytogenet. Cell Genet. 40: 621 only, 1985.
[0017455]8043.Edwards, Y. H.; Lloyd, J. C.; Parkar, M.; Povey, S.: The gene for human muscle specific carbonic anhydrase (CAIII) is assigned to chromosome 8. Ann. Hum. Genet. 50: 41-47, 1986.
[0017456]8044.Heath, R.; Carter, N. D.; Jeffery, S.; Edwards, R. J.; Watts, D. C.; Watts, R. L.: Evaluation of carrier detection of Duchenne muscular dystrophy using carbonic anhydrase III and creatine kinase. Am. J. Med. Genet. 21: 291-296, 1985.
[0017457]8045.Lloyd, J.; Brownson, C.; Tweedie, S.; Charlton, J.; Edwards, Y. H.: Human muscle carbonic anhydrase: gene structure and DNA methylation patterns in fetal and adult tissues. Genes Dev. 1: 594-602, 1987.
[0017458]8046.Lloyd, J.; McMillan, S.; Hopkinson, D.; Edwards, Y. H.: Nucleotide sequence and derived amino acid sequence of a cDNA encoding human muscle carbonic anhydrase. Gene 41: 233-239, 1986.
[0017459]8047.Lloyd, J. C.; Isenberg, H.; Hopkinson, D. A.; Edwards, Y. H.: Isolation of a cDNA clone for the human muscle specific carbonic anhydrase, CA III. Ann. Hum. Genet. 49: 241-251, 1985.
[0017460]8048.Wade, R.; Gunning, P.; Eddy, R.; Shows, T.; Kedes, L.: Nucleotide sequence, tissuespecific expression, and chromosome location of human carbonic anhydrase III: the human CAIII gene is located on the same chromosome as the closely linked CAI and CAII genes. Proc. Nat. Acad. Sci. 83: 9571-9575, 1986.
[0017461]8049.Ueki, Y.; Tiziani, V.; Santanna, C.; Fukai, N.; Maulik, C.; Garfinkle, J.; Ninomiya, C.; doAmaral, C.; Peters, H.; Habal, M.; Rhee-Morris, L.; Doss, J. B.; Kreiborg, S.; Olsen, B. R.; Reichenberger, E.: Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism. Nature Genet. 28: 125-126, 2001.
[0017462]8050.Hall, C.; Monfries, C.; Smith, P.; Lim, H. H.; Kozma, R.; Ahmed, S.; Vanniasingham, V.; Leung, T.; Lim, L.: Novel human brain cDNA encoding a 34,000 M(r) protein n-chimaerin, related to both the regulatory domain of protein kinase C and BCR, the product of the breakpoint cluster region gene. J. Molec. Biol. 211: 11-16, 1990.
[0017463]8051.Hall, C.; Sin, W. C.; Teo, M.; Michael, G. J.; Smith, P.; Dong, J. M.; Lim, H. H.; Manser, E.; Spurr, N. K.; Jones, T. A.; Lim, L. : Alpha-2-chimerin, an SH2-containing GTPase-activating protein for the ras-related protein p21-rac derived by alternate splicing of the human n-chimerin gene, is selectively expressed in brain regions and testes. Molec. Cell. Biol. 13: 4986-4998, 1993.
[0017464]8052.Brewer, C.; Holloway, S.; Zawalnyski, P.; Schinzel, A.; FitzPatrick, D.: A chromosomal deletion map of human malformations. Am. J. Hum. Genet. 63: 1153-1159, 1998.
[0017465]8053.Brewer, C. M.; Leek, J. P.; Green, A. J.; Holloway, S.; Bonthron, D. T.; Markham, A. F.; FitzPatrick, D. R.: A locus for isolated cleft palate, located on human chromosome 2q32. Am. J. Hum. Genet. 65: 387-396, 1999.
[0017466]8054.Carter, C. O.; Evans, K.; Coffey, R.; Roberts, J. A. F.; Buck, A.; Roberts, M. F.: A family study of isolated cleft palate. J. Med. Genet. 19: 329-331, 1982.
[0017467]8055.Christensen, K.; Holm, N. V.; Olsen, J.; Kock, K.; Fogh-Andersen, P.: Selection bias in genetic-epidemiological studies of cleft lip and palate. Am. J. Hum. Genet. 51: 654-659, 1992.
[0017468]8056.Christensen, K.; Mitchell, L. E.: Familial recurrence-pattern analysis of nonsyndromic isolated cleft palate: a Danish registry study. Am. J. Hum. Genet. 58: 182-190, 1996.
[0017469]8057.Jenkins, M.; Stady, C.: Dominant inheritance of cleft of the soft palate. Hum. Genet. 53: 341-342, 1980.
[0017470]8058.Shields, E. D.; Bixler, D.; Fogh-Andersen, P.: Cleft palate: a genetic and epidemiologic investigation. Clin. Genet. 20: 13-24, 1981.
[0017471]8059.Hwang, S. J.; Beaty, T. H.; Panny, S. R.; Street, N. A.; Joseph, J. M.; Gordon, S.; McIntosh, I.; Francomano, C. A.: Association study of transforming growth factor alpha (TGF-alpha) TaqI polymorphism and oral clefts: indication of gene-environment interaction in a population-based sample of infants with birth defects. Am. J. Epidemiol. 141: 629-636, 1995.
[0017472]8060.Van Dyke, D. C.; Goldman, A. S.; Spielman, R. S.; Zmijewski, C. M.: Segregation of HLA in families with oral clefts: evidence against linkage between isolated cleft palate and HLA. Am. J. Med. Genet. 15: 85-88, 1983.
[0017473]8061.Czarny-Ratajczak, M.; Lohiniva, J.; Rogala, P.; Kozlowski, K.; Perala, M.; Carter, L.; Spector, T. D.; Kolodziej, L.; Seppanen, U.; Glazar, R.; Krolewski, J.; Latos-Bielenska, A.; Ala-Kokko, L.: A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity. Am. J. Hum. Genet. 69: 969-980, 2001.
[0017474]8062.Eyre, D. R.; Apon, S.; Wu, J.-J.; Ericsson, L. H.; Walsh, K. A. : Collagen type IX: evidence for covalent linkages to type II collagen in cartilage. FEBS Lett. 220: 337-341, 1987.
[0017475]8063.Fassler, R.; Schnegelsberg, P. N. J.; Dausman, J.; Shinya, T.; Muragaki, Y.; McCarthy, M. T.; Olsen, B. R.; Jaenisch, R.: Mice lacking alpha 1 (IX) collagen develop noninflammatory degenerative joint disease Proc. Nat. Acad. Sci. 91: 5070-5074, 1994.
[0017476]8064.Hagg, R.; Hedbom, E.; Mollers, U.; Aszodi, A.; Fassler, R.; Bruckner, P.: Absence of the alpha-1(IX) chain leads to a functional knock-out of the entire collagen IX protein in mice. J. Biol. Chem. 272: 20650-20654, 1997.
[0017477]8065.Jacenko, O.; Olsen, B. R.; Warman, M. L.: Of mice and men: heritable skeletal disorders. (Editorial) Am. J. Hum. Genet. 54: 163-168, 1994.
[0017478]8066.Kimura, T.; Mattei, M.-G.; Stevens, J. W.; Goldring, M. B.; Ninomiya, Y.; Olsen, B. R.: Molecular cloning of rat and human type IX collagen cDNA and localization of the alpha1(IX) gene on the human chromosome 6. Europ. J. Biochem. 179: 71-78, 1989.
[0017479]8067.Mayne, R.; van der Rest, M.; Ninomiya, Y.; Olsen, B. R.: The structure of type IX collagen. Ann. N.Y. Acad. Sci. 460: 38-46, 1985.
[0017480]8068.McCormick, D.; van der Rest, M.; Goodship, J.; Lozano, G.; Ninomiya, T.; Olsen, B. R.: Structure of the glycosaminoglycan domain in the type IX collagen-proteoglycan. Proc. Nat. Acad. Sci. 84: 4044-4048, 1987.
[0017481]8069.Muragaki, Y.; Nishimura, I.; Henney, A.; Ninomiya, Y.; Olsen, B. R.: The alpha-1(IX) collagen gene gives rise to two different transcripts in both mouse embryonic and human fetal RNA. Proc. Nat. Acad. Sci. 87: 2400-2404, 1990.
[0017482]8070.Nakata, K.; Ono, K.; Miyazaki, J.; Olsen, B. R.; Muragaki, Y.; Adachi, E.; Yamamura, K.; Kimura, T.: Osteoarthritis associated with mild chondrodysplasia in transgenic mice expressing alpha-1(IX) collagen chains with a central deletion. Proc. Nat. Acad. Sci. 90: 2870-2874, 1993.
[0017483]8071.Warman, M. L.; Tiller, G. E.; Polumbo, P. A.; Seldin, M. F.; Rochelle, J. M.; Knoll, J. H. M.; Cheng, S.-D.; Olsen, B. R.: Physical and linkage mapping of the human and murine genes for the alpha-1 chain of type IX collagen (COL9A1). Genomics 17: 694-698, 1993.
[0017484]8072.Burrows, N. P.; Nicholls, A. C.; Richards, A. J.; Luccarini, C.; Harrison, J. B.; Yates, J. R. W.; Pope, F. M.: A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families. Am. J. Hum. Genet. 63: 390-398, 1998.
[0017485]8073.Caridi, G.; Pezzolo, A.; Bertelli, R.; Gimelli, G.; Di Donato, A.; Candiano, G.; Ghiggeri, G. M.: Mapping of the human COL5A1 gene to chromosome 9q34.3. Hum. Genet. 90: 174-176, 1992.
[0017486]8074.Fichard, A.; Kleman, J.-P.; Ruggiero, F.: Another look at collagen V and XI molecules. Matrix Biol. 14: 515-531, 1994.
[0017487]8075.Giunta, C.; Steinmann, B.: Compound heterozygosity for a disease-causing G1489D and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability? Am. J. Med. Genet. 90: 72-79, 2000.
[0017488]8076.Greenspan, D. S.; Byers, M. G.; Eddy, R. L.; Cheng, W.; Jani-Sait, S.; Shows, T. B.: Human collagen gene COL5A1 maps to the q34.2-q34.3 region of chromosome 9, near the locus for nailpatella syndrome. Genomics 12: 836-837, 1992.
[0017489]8077.Hamann, K. J.; Ten, R. M.; Loegering, D. A.; Jenkins, R. B.; Heise, M. T.; Schad, C. R.; Pease, L. R.; Gleich, G. J.; Barker, R. L.: Structure and chromosome localization of the human eosinophil-derived neurotoxin and eosinophil cationic protein genes: evidence for intronless coding sequences in the ribonuclease gene superfamily. Genomics 7: 535-546, 1990.
[0017490]8078.Mastrianni, D. M.; Eddy, R. L.; Rosenberg, H. F.; Corrette, S. E.; Shows, T. B.; Tenen, D. G.; Ackerman, S. J.: Localization of the human eosinophil Charcot-Leyden crystal protein (lysophospholipase) gene (CLC) to chromosome 19 and the human ribonuclease 2 (eosinophil-derived neurotoxin) and ribonuclease 3 (eosinophil cationic protein) genes (RNS2 and RNS3) to chromosome 14. Genomics 13: 240-242, 1992.
[0017491]8079.Benner, S. A.: The past as the key to the present: resurrection of ancient proteins from eosinophils. (Commentary) Proc. Nat. Acad. Sci. 99: 4760-4761, 2002.
[0017492]8080.Rosenberg, H. F.; Tenen, D. G.; Ackerman, S. J.: Molecular cloning of the human eosinophil-derived neurotoxin: a member of the ribonuclease gene family. Proc. Nat. Acad. Sci. 86: 4460-4464, 1989.
[0017493]8081.Zhang, J.; Rosenberg, H. F.: Complementary advantageous substitutions in the evolution of an antiviral RNase of higher primates. Proc. Nat. Acad. Sci. 99: 5486-5491, 2002.
[0017494]8082.Goetzl, E. J.: Personal Communication. Boston, Mass. 12/4/1978.
[0017495]8083.Pearson, W. R.; Vorachek, W. R.; Xu, S.; Berger, R.; Hart, I.; Vannais, D.; Patterson, D.: Identification of class-mu glutathione transferase genes GSTM1-GSTM5 on human chromosome 1p13. Am. J. Hum. Genet. 53: 220-233, 1993.
[0017496]8084.Hillarp, A.; Dahlback, B.: Novel subunit in C4b-binding protein required for protein S binding. J. Biol. Chem. 263: 12759-12764, 1988.
[0017497]8085.Hillarp, A.; Dahlback, B.: Cloning of cDNA coding for the beta-chain of human complement component C4b-binding protein: sequence homology with the alpha chain. Proc. Nat. Acad. Sci. 87: 1183-1187, 1990.
[0017498]8086.Hillarp, A.; Pardo-Manuel, F.; Ramos Ruiz, R.; Rodriguez de Cordoba, R.; Dahlback, B.: The human C4b-binding protein beta-chain gene. J. Biol. Chem. 268: 15017-15023, 1993.
[0017499]8087.Pardo-Manuel, F.; Rey-Campos, J.; Hillarp, A.; Dahlback, B.; Rodriguez de Cordoba, S.: Human genes for the alpha and beta chains of complement C4b-binding protein are closely linked in a head-to-tail arrangement. Proc. Nat. Acad. Sci. 87: 4529-4532, 1990.
[0017500]8088.Rodriguez de Cordoba, S.; Perez-Blas, M.; Ramos-Ruiz, R.; Sanchez-Corral, P.; Pardo-Manuel de Villena, F.; Rey-Campos, J.: The gene coding for the beta-chain of C4b-binding protein (C4BPB) has become a pseudogene in the mouse. Genomics 21: 501-509, 1994.
[0017501]8089.Asghar, S. S.; Venneker, G. T.; van Meegen, M.; Meinardi, M. M. H. M.; Hulsmans, R.-F. H. J.; de Waal, L. P.: Hereditary deficiency of C5 in association with discoid lupus erythematosus. J. Am. Acad. Derm. 24: 376-378, 1991.
[0017502]8090.Collaborative Study on the Genetics of Asthma: A genome-wide search for asthma susceptibility loci in ethnically diverse populations. Nature Genet. 15: 389-392, 1997.
[0017503]8091.Gavett, S. H.; O'Hearn, D. J.; Li, X.; Huang, S. K.; Finkelman, F. D.; Wills-Karp, M.: Interleukin 12 inhibits antigen-induced airway hyperresponsiveness, inflammation, and Th2 cytokine expression in mice. J. Exp. Med. 182: 1527-1536, 1995.
[0017504]8092.Heist, D. G.; Solis-Cohen, S.; Solis-Cohen, M.: A study of the virulence of meningococci for man and human susceptibility to meningococcic infection. J. Immun. 7: 1-33, 1922.
[0017505]8093.Jacobs, J. C.; Miller, M. E.: Fatal familial Leiner's disease: a deficiency of the opsonic activity of serum complement. Pediatrics 49: 225-232, 1972.
[0017506]8094.Jeremiah, S. J.; West, L. F.; Davis, M.; Povey, S.; Carritt, B.; Fey, G. H.: The assignment of the human gene coding for complement C5 to chromosome 9q22-9q33. Ann. Hum. Genet. 52: 111-116, 1988.
[0017507]8095.Jeremiah, S. J.; West, L. F.; Davis, M. B.; Povey, S.; Carritt, B.; Fey, G.: Assignment of human complement component C5 to chromosome 9. (Abstract) Cytogenet. Cell Genet. 46: 634 only, 1987.
[0017508]8096.Karp, C. L.; Grupe, A.; Schadt, E.; Ewart, S. L.; Keane-Moore, M.; Cuomo, P. J.; Kohl, J.; Wahl, L.; Kuperman, D.; Germer, S.; Aud, D.; Peltz, G.; Wills-Karp, M.: Identification of complement factor 5 as a susceptibility locus for experimental allergic asthma. Nature Immun. 1: 221-226, 2000.
[0017509]8097.McLean, R. H.; Peter, G.; Gold, R.; Guerra, L.; Yunis, E. J.; Kreutzer, D. L.: Familial deficiency of C5 in humans: intact but deficient alternative complement pathway activity. Clin. Immun. Immunopath. 21: 62-76, 1981.
[0017510]8098.Miller, M. E.; Nilsson, U. R.: A familial deficiency of the phagocytosis-enhancing activity of serum related to a dysfunction of the fifth component of complement (C5). New Eng. J. Med. 282: 354-358, 1970.
[0017511]8099.Miller, M. E.; Seals, J.; Kaye, R.; Levitsky, L. C.: A familial, plasma-associated defect of phagocytosis: a new cause of recurrent bacterial infections. Lancet II: 60-63, 1968.
[0017512]8100.Ober, C.; Cox, N. J.; Abney, M.; Di Rienzo, A.; Lander, E. S.; Changyaleket, B.; Gidley, H.; Kurtz, B.; Lee, J.; Nance, M.; Pettersson, A.; Prescott, J.; Richardson, A.; Schlenker, E.; Summerhill, E.; Willadsen, S.; Parry, R.; Collaborative Study on the Genetics of Asthma: Genome-wide search for asthma susceptibility loci in a founder population. Hum. Molec. Genet. 7: 1393-1398, 1998.
[0017513]8101.Ooi, Y. M.; Colten, H. R.: Genetic defect in secretion of complement C5 in mice. Nature 282: 207-208, 1979.
[0017514]8102.Rosenfeld, S. I.; Baum, J.; Steigbigel, R. T.; Leddy, J. P.: Hereditary deficiency of the fifth component of complement in man. II. Biological properties of C5-deficient human serum. J. Clin. Invest. 57: 1635-1643, 1976.
[0017515]8103.Rosenfeld, S. I.; Kelly, M. E.; Leddy, J. P.: Hereditary deficiency of the fifth component of complement in man. I. Clinical, immunochemical, and family studies. J. Clin. Invest. 57: 1626-1634, 1976.
[0017516]8104.Rosenfeld, S. I.; Leddy, J. P.: Hereditary deficiency of fifth component of complement (C5) in man. (Abstract) J. Clin. Invest. 53: 67A only, 1974.
[0017517]8105.Rosenfeld, S. I.; Weitkamp, L. R.; Countryman, J. K.: Non-linkage for a locus of human complement C5 deficiency to the complement C6 structural locus. Immunogenetics 7: 95-97, 1978.
[0017518]8106.Schifferli, J. A.; Hirschel, B.: Meningococcal meningitis in the first case of complement deficiency. (Letter) Lancet II: 1240 only, 1985.
[0017519]8107.Snyderman, R.; Durack, D. T.; McCarty, G. A.; Ward, F. E.; Meadows, L.: Deficiency of the fifth component of complement in human subjects: clinical, genetic and immunologic studies in a large kindred. Am. J. Med. 67: 638-645, 1979.
[0017520]8108.Tack, B. F.; Morris, S. C.; Prahl, J. W.: Fifth component of human complement: purification from plasma and polypeptide chain structure. Biochemistry 18: 1490-1497, 1979.
[0017521]8109.Weitkamp, L. R.; Rosenfeld, S.; Johnston, E.: Complement C5: immunofixation electrophoresis, quantitative variants, and nonlinkage to HLA. Cytogenet. Cell Genet. 22: 651-654, 1978.
[0017522]8110.Wetsel, R. A.; Fleischer, D. T.; Haviland, D. L.: Deficiency of the murine fifth complement component (C5): a 2-base pair gene deletion in a 5-prime-exon. J. Biol. Chem. 265: 2435-2440, 1990.
[0017523]8111.Wetsel, R. A.; Lemons, R. S.; Le Beau, M. M.; Barnum, S. R.; Noack, D.; Tack, B. F.: Molecular analysis of human complement component C5: localization of the structural gene to chromosome 9. Biochemistry 27: 1474-1482, 1988.
[0017524]8112.Carbone, I.; Bruno, C.; Sotgia, F.; Bado, M.; Broda, P.; Masetti, E.; Panella, A.; Zara, F.; Bricarelli, F. D.; Cordone, G.; Lisanti, M. P.; Minetti, C.: Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. Neurology 54: 1373-1376, 2000.
[0017525]8113.Aguzzi, A.; Weissmann, C.: A suspicious signature. Nature 383: 666-667, 1996.
[0017526]8114.Collinge, J.; Sidle, K. C. L.; Heads, J.; Ironside, J.; Hill, A. F.: Molecular analysis of prion strain variation and the aetiology of 'new variant' CJD. Nature 383: 685-690, 1996.
[0017527]8115.Kishi, K.; Yasuda, T.; Awazu, S.; Mizuta, K.: Genetic polymorphism of human urine deoxyribonuclease I. Hum. Genet. 81: 295-297, 1989.
[0017528]8116.Kishi, K.; Yasuda, T.; Ikehara, Y.; Sawazaki, K.; Sato, W.; Iida, R.: Human serum deoxyribonuclease I (DNase I) polymorphism: pattern similarities among isozymes from serum, urine, kidney, liver, and pancreas. Am. J. Hum. Genet. 47: 121-126, 1990.
[0017529]8117.Napirei, M.; Karsunky, H.; Zevnik, B.; Stephan, H.; Mannherz, H. G.; Moroy, T.: Features of systemic lupus erythematosus in Dnase1-deficient mice. Nature Genet. 25: 177-181, 2000.
[0017530]8118.Yasuda, T.; Awazu, S.; Sato, W.; Iida, R.; Tanaka, Y.; Kishi, K. : Human genetically polymorphic deoxyribonuclease: purification, characterization, and multiplicity of urine deoxyribonuclease I. J. Biochem. 108: 393-398, 1990.
[0017531]8119.Yasuda, T.; Kishi, K.; Yanagawa, Y.; Yoshida, A.: Structure of the human deoxyribonuclease I (DNase I) gene: identification of the nucleotide substitution that generates its classical genetic polymorphism. Ann. Hum. Genet. 59: 1-15, 1995.
[0017532]8120.Yasuda, T.; Nadano, D.; Iida, R.; Takeshita, H.; Lane, S. A.; Callen, D. F.; Kishi, K.: Chromosomal assignment of the human deoxyribonuclease I gene, DNASE1 (DNL1), to band 16p13.3 using the polymerase chain reaction. Cytogenet. Cell Genet. 70: 221-223, 1995.
[0017533]8121.Yasutomo, K.; Horiuchi, T.; Kagami, S.; Tsukamoto, H.; Hashimura, C.; Urushihara, M.; Kuroda, Y.: Mutation of DNASE1 in people with systemic lupus erythematosus. Nature Genet. 28: 313-314, 2001.
[0017534]8122.Muller, U.; Steinberger, D.; Nemeth, A. H.: Clinical and molecular genetics of primary dystonias. Neurogenetics 1: 165-177, 1998.
[0017535]8123.Ozelius, L. J.; Hewett, J. W.; Page, C. E.; Bressman, S. B.; Kramer, P. L.; Shalish, C.; de Leon, D.; Brin, M. F.; Raymond, D.; Corey, D. P.; Fahn, S.; Risch, N. J.; Buckler, A. J.; Gusella, J. F.; Breakefield, X. O.: The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nature Genet. 17: 40-48, 1997.
[0017536]8124.Winograd, J.; Reilly, M. P.; Roe, R.; Lutz, J.; Laughner, E.; Xu, X.; Hu, L.; Asakura, T.; vander Kolk, C.; Strandberg, J. D.; Semenza, G. L.: Perinatal lethality and multiple craniofacial malformations in MSX2 transgenic mice. Hum. Molec. Genet. 6: 369-378, 1997.
[0017537]8125.Wuyts, W.; Reardon, W.; Preis, S.; Homfray, T.; Rasore-Quartino, A.; Christians, H.; Willems, P. J.; Van Hul, W.: Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna. Hum. Molec. Genet. 9: 1251-1255, 2000.
[0017538]8126.Jabs, E. W.; Li, X.; Scott, A. F.; Meyers, G.; Chen, W.; Eccles, M.; Mao, J.; Charnas, L. R.; Jackson, C. E.; Jaye, M.: Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. Nature Genet. 8: 275-279, 1994.
[0017539]8127.Roscioli, T.; Flanagan, S.; Kumar, P.; Masel, J.; Gattas, M.; Hyland, V. J.; Glass, I. A.: Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature. Am. J. Med. Genet. 93: 22-28, 2000.
[0017540]8128.Vinton, N. E.; Dahlstrom, K. A.; Stobel, C. T.; Ament, M. E.: Macrocytosis and pseudoalbinism: manifestations of selenium deficiency. J. Pediat. 111: 711-717, 1987.
[0017541]8129.Wijnen, L. M.; Monteba-van Heuvel, M.; Pearson, P. L.; Meera Khan, P.: Assignment of a gene for glutathione peroxidase (GPX-1) to human chromosome 3. Cytogenet. Cell Genet. 22: 232-238, 1978.
[0017542]8130.Yannicelli, S.; Hambidge, K. M.; Picciano, M. F.: Decreased selenium intake and low plasma selenium concentrations leading to clinical symptoms in a child with propionic acidaemia. J. Inherit. Metab. Dis. 15: 261-268, 1992.
[0017543]8131.Chambers, I.; Frampton, J.; Goldfarb, P.; Affara, N.; McBain, W.; Harrison, P. R.: The structure of the mouse glutathione peroxidase gene: the selenocysteine in the active site is encoded by the 'termination' codon, TGA. EMBO J. 5: 1221-1227, 1986.
[0017544]8132.Chu, F.-F.; Esworthy, R. S.; Doroshow, J. H.; Doan, K.; Liu, X.-F. : Expression of glutathione peroxidase in human liver in addition to kidney, heart, lung, and breast in humans and rodents. Blood 79: 3233-3238, 1992.
[0017545]8133.Takahashi, K.; Akasaka, M.; Yamamoto, Y.; Kobayashi, C.; Mizoguchi, J.; Koyama, J.: Primary structure of human plasma glutathione peroxidase deduced from cDNA sequences. J. Biochem. 108: 145-148, 1990.
[0017546]8134.Kelner, M. J.; Montoya, M. A.: Structural organization of the human seleniumdependent phospholipid hydroperoxide glutathione peroxidase gene (GPX4): chromosomal localization to 19p13.3. Biochem. Biophys. Res. Commun. 249: 53-55, 1998.
[0017547]8135.Roveri, A.; Casasco, A.; Maiorino, M.; Dalan, P.; Calligaro, A.; Ursini, F.: Phospholipid hydroperoxide glutathione peroxidase of rat testis. J. Biol. Chem. 267: 6142-6146, 1992.
[0017548]8136.Ikeuchi, T.; Shimohata, T.; Nakano, R.; Koide, R.; Takano, H.; Tsuji, S.: A case of primary torsion dystonia in Japan with the 3-bp (GAG) deletion in the DYT1 gene with a unique clinical presentation. (Letter) Neurogenetics 2: 189-190, 1999.
[0017549]8137.Kamm, C.; Castelon-Konkiewitz, E.; Naumann, M.; Heinen, F.; Brack, M.; Nebe, A.; Ceballos-Baumann, A.; Gasser, T.: GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany. Mov. Disord. 14: 681-683, 1999.
[0017550]8138.Arce, M. A.; Thompson, E. S.; Wagner, S.; Coyne, K. E.; Ferdman, B. A.; Lublin, D. M.: Molecular cloning of RhD cDNA derived from a gene present in RhD-positive, but not RhD-negative individuals. Blood 82: 651-655, 1993.
[0017551]8139.Bennett, P. R.; Le Van Kim, C.; Colin, Y.; Warwick, R. M.; Cherif-Zahar, B.; Fisk, N. M.; Cartron, J.-P.: Prenatal determination of fetal RhD type by DNA amplification. New Eng. J. Med. 329: 607-610, 1993.
[0017552]8140.Bowman, J. M.: RhD hemolytic disease of the newborn. (Editorial) New Eng. J. Med. 339: 1775-1777, 1998.
[0017553]8141.Cartron, J.-P.: Defining the Rh blood group antigens: biochemistry and molecular genetics. Blood Rev. 8: 199-212, 1994.
[0017554]8142.Colin, Y.; Cherif-Zahar, B.; Le Van Kim, C.; Raynal, V.; Van Huffel, V.; Cartron, J.-P.: Genetic basis of the RhD-positive and RhD-negative blood group polymorphism as determined by Southern analysis. Blood 78: 2747-2752, 1991.
[0017555]8143.Diamond, L. K.; Blackfan, K. D.; Baty, J. M.: Erythroblastosis fetalis and its association with universal edema of the fetus, icterus gravis neonatorum and anemia of the newborn. J. Pediat. 1: 269-309, 1932.
[0017556]8144.du Toit, E. D.; Martell, R. W.; Botha, I.; Kriel, C. J.: Anti-D antibodies in the Rhpositive mothers. S. Afr. Med. J. 75: 452, 1989.
[0017557]8145.Garratty, G.: Severe reactions associated with transfusion of patients with sickle cell disease. Transfusion 37: 357-361, 1997.
[0017558]8146.Huang, C.-H.: Personal Communication. New York City, N. Y. 10/11/1996.
[0017559]8147.Huang, C.-H.; Chen, Y.; Reid, M.; Ghosh, S.: Genetic recombination at the human RH locus: a family study of the red-cell Evans phenotype reveals a transfer of exons 2-6 from the RHD to the RHCE gene. Am. J. Hum. Genet. 59: 825-833, 1996.
[0017560]8148.Huang, C.-H.; Reid, M. E.; Chen, Y.; Coghlan, G.; Okubo, Y.: Molecular definition of red cell Rh haplotypes by tightly linked SphI RFLPs. Am. J. Hum. Genet. 58: 133-142, 1996.
[0017561]8149.Hyland, C. A.; Wolter, L. C.; Liew, Y. W.; Saul, A.: A Southern analysis of Rh blood group genes: association between restriction fragment length polymorphism patterns and Rh serotypes. Blood 83: 566-572, 1994.
[0017562]8150.Issitt, P. D.: The Rh blood group system, 1988: eight new antigens in nine years and some observations on the biochemistry and genetics of the system. Transfusion Med. Rev. 3: 1-12, 1989.
[0017563]8151.Kemp, T. J.; Poulter, M.; Carritt, B.: A recombination hot spot in the Rh genes revealed by analysis of unrelated donors with the rare D-- phenotype. Am. J. Hum. Genet. 59: 1066-1073, 1996.
[0017564]8152.Legler, T. J.; Eber, S. W.; Lakomek, M.; Lynen, R.; Maas, J. H.; Pekrun, A.; Repas-Humpe, M.; Schroter, W.; Kohler, M.: Application of RHD and RHCE genotyping for correct blood group determination in chronically transfused patients. Transfusion 39: 852-855, 1999.
[0017565]8153.Le Van Kim, C.; Cherif-Zahar, B.; Raynal, V.; Mouro, I.; Lopez, M.; Cartron, J. P.; Colin, Y.: Multiple Rh messenger RNA isoforms are produced by alternative splicing. Blood 80: 1074-1078, 1992.
[0017566]8154.Le Van Kim, C.; Mouro, I.; Cherif-Zahar, B.; Raynal, V.; Cherrier, C.; Cartron, J.-P.; Colin, Y.: Molecular cloning and primary structure of the human blood group RhD polypeptide. Proc. Nat. Acad. Sci. 89: 10925-10929, 1992.
[0017567]8155.Levine, P.; Katzin, E. M.; Burnham, L.: Isoimmunization in pregnancy: its possible bearing on the etiology of erythroblastosis foetalis. J.A.M.A. 116: 825-827, 1941.
[0017568]8156.Lo, Y. M. D.; Hjelm, N. M.; Fidler, C.; Sargent, I. L.; Murphy, M. F.; Chamberlain, P. F.; Poon, P. M. K.; Redman, C. W. G.; Wainscoat, J. S.: Prenatal diagnosis of fetal RhD status by molecular analysis of maternal plasma. New Eng. J. Med. 339: 1734-1738, 1998.
[0017569]8157.Miyoshi, O.; Yabe, R.; Wakui, K.; Fukushima, Y.; Koizumi, S.; Uchikawa, M.; Kajii, T.; Numakura, C.; Takahashi, S.; Hayasaka, K.; Niikawa, N.: Two cases of mosaic RhD blood-group phenotypes and paternal isodisomy for chromosome 1. Am. J. Med. Genet. 104: 250-256, 2001.
[0017570]8158.Okuda, H.; Kawano, M.; Iwamoto, S.; Tanaka, M.; Seno, T.; Okubo, Y.; Kajii, E.: The RHD gene is highly detectable in RhD-negative Japanese donors. J. Clin. Invest. 100: 373-379, 1997.
[0017571]8159.Race, R. R.: An 'incomplete' antibody in human serum. (Letter) Nature 153: 771-772, 1944.
[0017572]8160.Race, R. R.; Sanger, R.: Blood Groups in Man. Oxford: Blackwell (pub.) (6th ed.): 1975.
[0017573]8161.Rouillac, C.; Le Van Kim, C.; Beolet, M.; Cartron, J.-P.; Colin, Y.: Leu110-to-pro substitution in the RhD polypeptide is responsible for the D(VII) category blood group phenotype. Am. J. Hemat. 49: 87-88, 1995.
[0017574]8162.Smythe, J. S.; Avent, N. D.; Judson, P. A.; Parsons, S. F.; Martin, P. G.; Anstee, D. J.: Expression of RHD and RHCE gene products using retroviral transduction of K562 cells establishes the molecular basis of Rh blood group antigens. Blood 87: 2968-2973, 1996.
[0017575]8163.Spanos, T.; Karageorga, M.; Ladis, V.; Peristeri, J.; Hatziliami, A.; Kattamis, C.: Red cell alloantibodies in patients with thalassemia. Vox Sang. 58: 50-55, 1990.
[0017576]8164.Wagner, F. F.; Flegel, W. A.: RHD gene deletion occurred in the Rhesus box. Blood 95: 3662-3668, 2000.
[0017577]8165.Wagner, F. F.; Gassner, C.; Muller, T. H.; Schonitzer, D.; Schunter, F.; Flegel, W. A.: Molecular basis of weak D phenotypes. Blood 93: 385-393, 1999.
[0017578]8166.Wagner, F. F.; Ladewig, B.; Angert, K. S.; Heymann, G. A.; Eicher, N. I.; Flegel, W. A.: The DAU allele cluster of the RHD gene. Blood 100: 306-311, 2002.
[0017579]8167.Wiener, A. S.: The Rh series of allelic genes. Science 100: 595-597, 1944.
[0017580]8168.Wang, X.; Chan, S. J.; Eddy, R. L.; Byers, M. G.; Fukushima, Y.; Henry, W. M.; Haley, L. L.; Steiner, D. F.; Shows, T. B.: Chromosome assignment of cathepsin B (CTSB) to 8p22 and cathepsin H (CTSH) to 15q24-q25. (Abstract) Cytogenet. Cell Genet. 46: 710-711, 1987.
[0017581]8169.Gelb, B. D.; Shi, G.-P.; Heller, M.; Weremowicz, S.; Morton, C.; Desnick, R. J.; Chapman, H. A.: Structure and chromosomal assignment of the human cathepsin K gene. Genomics 41: 258-262, 1997.
[0017582]8170.Shiang, R.; Lidral, A. C.; Ardinger, H. H.; Buetow, K. H.; Romitti, P. A.; Munger, R. G.; Murray, J. C.: Association of transforming growth-factor alpha gene polymorphisms with nonsyndromic cleft palate only (CPO). Am. J. Hum. Genet. 53: 836-843, 1993.
[0017583]8171.Shields, E. D.; Bixler, D.; Fogh-Andersen, P.: Facial clefts in Danish twins. Cleft Palate J. 16: 1-6, 1979.
[0017584]8172.Pollack, M. S.; Ochs, H. D.; Dupont, B.: HLA typing of cultured amniotic cells for the prenatal diagnosis of complement C4 deficiency. Clin. Genet. 18: 197-200, 1980.
[0017585]8173.Porter, R. R.; Reid, K. B. M.: The biochemistry of complement. Nature 275: 699-704, 1978.
[0017586]8174.Rittner, C.; Bertrams, J.: On the significance of C2, C4, and factor B polymorphisms in disease. Hum. Genet. 56: 235-247, 1981.
[0017587]8175.Rittner, C.; Hauptmann, G.; Grosse-Wilde, H.; Grosshans, E.; Tongio, M. M.; Mayer, S.: Linkage between HL-A (major histocompatibility complex) and genes controlling the fourth component of complement.In: Histocompatibility Testing 1975. Copenhagen: Munksgaard (pub.) 1976. Pp. 945-953.
[0017588]8176.Roos, M. H.; Mollenhauer, E.; Demant, P.; Rittner, C.: A molecular basis for the two locus model of human complement component C4. Nature 298: 854-856, 1982.
[0017589]8177.Rosenfeld, S. I.; Ruddy, S.; Austen, K. F.: Structural polymorphism of the fourth component of human complement. J. Clin. Invest. 48: 2283-2292, 1969.
[0017590]8178.Roychoudhury, A. K.; Nei, M.: Human Polymorphic Genes: World Distribution. New York: Oxford Univ. Press (pub.) 1988.
[0017591]8179.Schaller, J. G.; Gilliland, B. G.; Ochs, H. D.; Leddy, J. P.; Agodoa, L. C. Y.; Rosenfeld, S. I.: Severe systemic lupus erythematosus with nephritis in a boy with deficiency of the fourth component of complement. Arthritis Rheum. 20: 1519-1525, 1977.
[0017592]8180.Shevach, E. M.; Frank, M. M.; Green, I.: Linkage of gene controlling the synthesis of the fourth component of complement to the major histocompatibility complex of the guinea pig. Immunogenetics 3: 595-602, 1976.
[0017593]8181.Shreffler, D. C.: The S region of the mouse major histocompatibility complex (H-2): genetic variation and functional role in complement system. Transplant. Rev. 32: 140-167, 1976.
[0017594]8182.Torisu, M.; Sonozaki, H.; Inai, S.; Arata, M.: Deficiency of the fourth component of complement in man. J. Immunogenet. 104: 728-737, 1970.
[0017595]8183.Wank, R.; Schendel, D. J.; O'Neill, G. J.; Riethmuller, G.; Held, E.; Feucht, H. E.: Rare variant of complement C4 is seen in high frequency in patients with primary glomerulonephritis. Lancet I: 872-874, 1984.
[0017596]8184.Welch, T. R.; Beischel, L.: C4 uremic variant: an acquired C4 allotype. Immunogenetics 22: 553-562, 1985.
[0017597]8185.Welch, T. R.; Beischel, L. S.; Choi, E.; Balakrishnan, K.; Bishof, N. A.: Uniparental isodisomy 6 associated with deficiency of the fourth component of complement. J. Clin. Invest. 86: 675-678, 1990.
[0017598]8186.Whitehead, A. S.; Colten, H. R.; Chang, C. C.; Demars, R.: Localization of the human MHC-linked complement genes between HLA-B and HLA-DR by using HLA mutant cell lines. J. Immun. 134: 641-643, 1985.
[0017599]8187.Wilson, W. A.; Perez, M. C.: Complete C4B deficiency in black Americans with systemic lupus erythematosus. J. Rheum. 15: 1855-1858, 1988.
[0017600]8188.Andersson, A.; Dahlback, B.; Hanson, C.; Hillarp, A.; Levan, G.; Szpirer, J.; Szpirer, C.: Genes for C4b-binding protein alpha- and beta-chains (C4BPA and C4BPB) are located on chromosome 1, band 1q32, in humans and on chromosome 13 in rats. Somat. Cell Molec. Genet. 16: 493-500, 1990.
[0017601]8189.Rodriguez de Cordoba, S.; Lublin, D. M.; Rubinstein, P.; Atkinson, J. P.: Human genes for three complement components that regulate the activation of C3 are tightly linked. J. Exp. Med. 161: 1189-1195, 1985.
[0017602]8190.Hofstra, R. M. W.; Osinga, J.; Tan-Sindhunata, G.; Wu, Y.; Kamsteeg, E.-J.; Stulp, R. P.; van Ravenswaaij-Arts, C.; Majoor-Krakauer, D.; Angrist, M.; Chakravarti, A.; Meijers, C.; Buys, C. H. C. M.: A homozygous mutation in the endothelin-3 gene associated with a combined Hirschsprung type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). Nature Genet. 12: 445-447, 1996.
[0017603]8191.Lenzerini, L.; Benatti, U.; Morelli, A.; Pontremoli, S.; De Flora, A.; Piazza, A.; Rinaldi, A.; Filippi, G.; Siniscalco, M.: Genetic variation in the quantitative levels of an NADP(H)-binding protein (FX) in human erythrocytes. Blood 57: 209-217, 1981.
[0017604]8192.Morelli, A.; De Flora, A.: Isolation and partial characterization of an NADP- and NADPH-binding protein from human erythrocytes. Arch. Biochem. Biophys. 179: 698-705, 1977.
[0017605]8193.Sullivan, F. X.; Kumar, R.; Kriz, R.; Stahl, M.; Xu, G.-Y.; Rouse, J.; Chang, X.; Boodhoo, A.; Potvin, B.; Cumming, D. A.: Molecular cloning of human GDP-mannose 4,6-dehydratase and reconstitution of GDP-fucose biosynthesis in vitro. J. Biol. Chem. 273: 8193-8202, 1998.
[0017606]8194.Tonetti, M.; Sturla, L.; Bisso, A.; Benatti, U.; De Flora, A.: Synthesis of GDP-L-fucose by the human FX protein. J. Biol. Chem. 271: 27274-27279, 1996.
[0017607]8195.Boyle, J. M.; Hey, Y.; Myers, K.; Stern, P. L.; Grzeschik, F.-H.; Ikehara, Y.; Misumi, Y.; Fox, M.: Regional localization of a trophoblast antigen-related sequence and 16 other sequences to human chromosome 6q using somatic cell hybrids. Genomics 12: 693-698, 1992.
[0017608]8196.Justice, M. J.; Siracusa, L. D.; Gilbert, D. J.; Heisterkamp, N.; Groffen, J.; Chada, K.; Silan, C. M.; Copeland, N. G.; Jenkins, N. A.: A genetic linkage map of mouse chromosome 10: localization of eighteen molecular markers using a single interspecific backcross. Genetics 125: 855-866, 1990.
[0017609]8197.Mouillet-Richard, S.; Ermonval, M.; Chebassier, C.; Laplanche, J. L.; Lehmann, S.; Launay, J. M.; Kellermann, O.: Signal transduction through prion protein. Science 289: 1925-1928, 2000.
[0017610]8198.Casari, G.; Barlassina, C.; Cusi, D.; Zagato, L.; Muirhead, R.; Righetti, M.; Nembri, P.; Amar, K.; Gatti, M.; Macciardi, F.; Binelli, G.; Bianchi, G.: Association of the alpha-adducin locus with essential hypertension. Hypertension 25: 320-326, 1995.
[0017611]8199.Lee, R. T.; Peterson, C. L.; Calman, A. F.; Herskowitz, I.; O'Donnell, J. J.: Cloning of a human galactokinase gene (GK2) on chromosome 15 by complementation in yeast. Proc. Nat. Acad. Sci. 89: 10887-10891, 1992.
[0017612]8200.Pastuszak, I.; O'Donnell, J.; Elbein, A. D.: Identification of the GalNAc kinase amino acid sequence. J. Biol. Chem. 271: 23653-23656, 1996.
[0017613]8201.Ball, S. P.; Cook, P. J. L.; Mars, M.; Buckton, K. E.: Linkage between dentinogenesis imperfecta and Gc. Ann. Hum. Genet. 46: 35-40, 1982.
[0017614]8202.Crosby, A. H.; Edwards, S. J.; Murray, J. C.; Dixon, M. J.: Genomic organization of the human osteopontin gene: exclusion of the locus from a causative role in the pathogenesis of dentinogenesis imperfecta type II. Genomics 27: 155-160, 1995.
[0017615]8203.Abernethy, T. J.; Avery, O. T.: The occurrence during acute infections of a protein not normally present in the blood. I. Distribution of the reactive protein in patients' sera and the effect of calcium on the flocculation reaction with C polysaccharide of pneumococcus. J. Exp. Med. 73: 173-182, 1941.
[0017616]8204.Floyd-Smith, G. A.; Whitehead, A. S.; Colten, H. R.; Francke, U. : The human Creactive protein gene (CRP) and serum amyloid P component gene (APCS) are located on the proximal long arm of chromosome 1. Immunogenetics 24: 171-176, 1986.
[0017617]8205.Tillett, W. S.; Francis, T., Jr.: Serological reactions in pneumonia with a nonprotein somatic fraction of pneumococcus. J. Exp. Med. 52: 561-585, 1930.
[0017618]8206.Stallings, R. L.; Olson, E.; Strauss, A. W.; Thompson, L. H.; Bachinski, L. L.; Siciliano, M. J.: Human creatine kinase genes on chromosomes 15 and 19, and proximity of the gene for the muscle form to the genes for apolipoprotein C2 and excision repair. Am. J. Hum. Genet. 43: 144-151, 1988.
[0017619]8207.Bark, C. J.: Mitochondrial creatine kinase: a poor prognostic sign. J.A.M.A. 243: 2058-2060, 1980.
[0017620]8208.Steeghs, K.; Merkx, G.; Wieringa, B.: The ubiquitous mitochondrial creatine kinase gene maps to a conserved region on human chromosome 15q15 and mouse chromosome 2 bands F1-F3. Genomics 24: 193-195, 1994.
[0017621]8209.Klein, S. C.; Haas, R. C.; Perryman, M. B.; Billadello, J. J.; Strauss, A. W.: Regulatory element analysis and structural characterization of the human sarcomeric mitochondrial creatine kinase gene. J. Biol. Chem. 266: 18058-18065, 1991.
[0017622]8210.Richard, I.; Devaud, C.; Cherif, D.; Cohen, D.; Beckmann, J. S. : The gene for creatine kinase, mitochondrial 2 (sarcomeric; CKMT2), maps to chromosome 5q13.3. Genomics 18: 134-136, 1993.
[0017623]8211.Holst, L. S.; Langin, D.; Mulder, H.; Laurell, H.; Grober, J.; Bergh, A.; Mohrenweiser, H. W.; Edgren, G.; Holm, C.: Molecular cloning, genomic organization, and expression of a testicular isoform of hormone-sensitive lipase. Genomics 35: 441-447, 1996.
[0017624]8212.Levitt, R. C.; Liu, Z.; Nouri, N.; Meyers, D. A.; Brandriff, B.; Mohrenweiser, H. M.: Mapping of the gene for hormone sensitive lipase (LIPE) to chromosome 19q13.1-q13.2. Cytogenet. Cell Genet. 69: 211-214, 1995.
[0017625]8213.Li, Z.; Sumida, M.; Birchbauer, A.; Schotz, M. C.; Reue, K.: Isolation and characterization of the gene for mouse hormone-sensitive lipase. Genomics 24: 259-265, 1994.
[0017626]8214.Osuga, J.; Ishibashi, S.; Oka, T.; Yagyu, H.; Tozawa, R.; Fujimoto, A.; Shionoiri, F.; Yahagi, N.; Kraemer, F. B.; Tsutsumi, O.; Yamada, N.: Targeted disruption of hormone-sensitive lipase results in male sterility and adipocyte hypertrophy, but not in obesity. Proc. Nat. Acad. Sci. 97: 787-792, 2000.
[0017627]8215.Schonk, D.; van Dijk, P.; Riegmann, P.; Trapman, J.; Holm, C.; Willcocks, T. C.; Sillekens, P.; van Venrooij, W.; Wimmer, E.; Geurts van Kessel, A.; Ropers, H.-H.; Wieringa, B.: Assignment of seven genes to distinct intervals on the midportion of human chromosome 19q surrounding the myotonic dystrophy gene region. Cytogenet. Cell Genet. 54: 15-19, 1990.
[0017628]8216.Wang, S.; Lapierre, P.; Robert, M.-F.; Nadeau, J. H.; Mitchell, G. A.: Hormonesensitive lipase maps to proximal chromosome 7 in mice and is genetically distinct from the Ad and Tub loci. Genomics 24: 416-417, 1994.
[0017629]8217.Dal Cin, P.; Turc-Carel, C.; Sandberg, A. A.: Consistent involvement of band 12q14 in two different translocations in three lipomas from the same patient. Cancer Genet. Cytogenet. 31: 237-240, 1988.
[0017630]8218.Levi-Strauss, M.; Carroll, M. C.; Steinmetz, M.; Meo, T.: A previously undetected MHC gene with an unusual periodic structure. Science 240: 201-204, 1988.
[0017631]8219.Speiser, P. W.; White, P. C.: Structure of the human RD gene: a highly conserved gene in the class III region of the major histocompatibility complex. DNA 8: 745-751, 1989.
[0017632]8220.Surowy, C. S.; Gosink, J. J.; Spritz, R. A.: cDNA cloning of the human 'RD' protein, a possible novel RNA-binding protein. (Abstract) Am. J. Hum. Genet. 43: A203 only, 1988.
[0017633]8221.Yamaguchi, Y.; Takagi, T.; Wada, T.; Yano, K.; Furuya, A.; Sugimoto, S.; Hasegawa, J.; Handa, H.: NELF, a multisubunit complex containing RD, cooperates with DSIF to repress RNA polymerase II elongation. Cell 97: 41-51, 1999.
[0017634]8222.Gross, M.-S.; Guyonnet-Duperat, V.; Porchet, N.; Bernheim, A.; Aubert, J. P.; Nguyen, V. C.: Mucin 4 (MUC4) gene: regional assignment (3q29) and RFLP analysis. Ann. Genet. 35: 21-26, 1992.
[0017635]8223.Porchet, N.; Van Cong, N.; Dufosse, J.; Audie, J. P.; Guyonnet-Duperat, V.; Gross, M. S.; Denis, C.; Degand, P.; Bernheim, A.; Aubert, J. P.: Molecular cloning and chromosomal localization of a novel human tracheo-bronchial mucin cDNA containing tandemly repeated sequences of 48 base pairs. Biochem. Biophys. Res. Commun. 175: 414-422, 1991.
[0017636]8224.Van Cong, N.; Aubert, J.-P.; Gross, M.-S.; Porchet, N.; Degand, P.; Bernheim, A.: Tracheobronchial mucin 4 (MUC4) gene: assignment to 3q29 and polymorphism of VNTR type. (Abstract) Cytogenet. Cell Genet. 58: 1879-1880, 1991.
[0017637]8225.Pigny, P.; Pratt, W. S.; Laine, A.; Leclercq, A.; Swallow, D. M.; Nguyen, V. C.; Aubert, J. P.; Porchet, N.: The MUC5AC gene: RFLP analysis with the Jer58 probe. Hum. Genet. 96: 367-368, 1995.
[0017638]8226.Collins, F. S.: Personal Communication. Bethesda, Md. 11/17/1993.
[0017639]8227.Blanck, O.; Perrin, C.; Mziaut, H.; Darbon, H.; Mattei, M. G.; Miquelis, R.: Molecular cloning, cDNA analysis, and localization of a monomer of the N-acetylglucosamine-specific receptor of the thyroid, NAGR1, to chromosome 19p13.3-13.2. Genomics 21: 18-26, 1994. Note: Erratum: Genomics 27: 561 only, 1995.
[0017640]8228.Datar, K. V.; Dreyfuss, G.; Swanson, M. S.: The human hnRNP M proteins: identification of a methionine/arginine-rich repeat motif in ribonucleoproteins. Nucleic Acids Res. 21: 439-446, 1993.
[0017641]8229.Hull, E.; Sarkar, M.; Spruijt, M. P. N.; Hoppener, J. W. M.; Dunn, R.; Schachter, H.: Organization and localization to chromosome 5 of the human UDP-N-acetylglucosamine:alpha-3-Dmannoside beta-1,2-N-acetylglucosaminyltransferase 1 gene. Biochem. Biophys. Res. Commun. 176: 608-615, 1991.
[0017642]8230.Ioffe, E.; Stanley, P.: Mice lacking N-acetylglucosaminyltransferase I activity die at mid-gestation, revealing an essential role for complex or hybrid N-linked carbohydrates. Proc. Nat. Acad. Sci. 91: 728-732, 1994.
[0017643]8231.Kumar, R.; Stanley, P.: Transfection of a human gene that corrects the Lec1 glycosylation defect: evidence for transfer of the structural gene for N-acetylglucosaminyltransferase I. Molec. Cell. Biol. 9: 5713-5717, 1989. Note: Erratum: Molec. Cell. Biol. 10: 3857 only, 1990.
[0017644]8232.Kumar, R.; Yang, J.; Eddy, R. L.; Byers, M. G.; Shows, T. B.; Stanley, P.: Cloning and expression of the murine gene and chromosomal location of the human gene encoding Nacetylglucosaminyltransferase I. Glycobiology 2: 383-393, 1992.
[0017645]8233.Kumar, R.; Yang, J.; Larsen, R. D.; Stanley, P.: Cloning and expression of Nacetylglucosaminyltransferase I, the medial Golgi transferase that initiates complex N-linked carbohydrate formation. Proc. Nat. Acad. Sci. 87: 9948-9952, 1990.
[0017646]8234.Metzler, M.; Gertz, A.; Sarkar, M.; Schachter, H.; Schrader, J. W.; Marth, J. D.: Complex asparagine-linked oligosaccharides are required for morphogenic events during postimplantation development. EMBO J. 13: 2056-2065, 1994.
[0017647]8235.Pownall, S.; Kozak, C. A.; Schappert, K.; Sarkar, M.; Hull, E.; Schachter, H.; Marth, J. D.: Molecular cloning and characterization of the mouse UDP-N-acetylglucosamine:alpha-3-Dmannoside beta-1,2-N-acetylglucosaminyltransferase I gene. Genomics 12: 699-704, 1992.
[0017648]8236.Puthalakath, H.; Burke, J.; Gleeson, P. A.: Glycosylation defect in lec1 Chinese hamster ovary mutant is due to a point mutation in N-acetylglucosaminyltransferase 1 gene. J. Biol. Chem. 271: 27818-27822, 1996.
[0017649]8237.Shows, T. B.: Personal Communication. Buffalo, N.Y. 4/13/1999.
[0017650]8238.Yip, B.; Chen, S.-H.; Mulder, H.; Hoppener, J. W. M.; Schachter, H.: Organization of the human beta-1,2-N-acetylglucosaminyltransferase I gene (MGAT1), which controls complex and hybrid N-glycan synthesis. Biochem. J. 321: 465-474, 1997.
[0017651]8239.Tan, J.; D'Agostaro, G. A. F.; Bendiak, B.; Reck, F.; Sarkar, M.; Squire, J. A.; Leong, P.; Schachter, H.: The human UDP-N-acetylglucosamine:alpha-6-D-mannoside-beta-1,2-Nacetylglucosaminyltransfe rase II gene (MGAT2): cloning of genomic DNA, localization to chromosome 14q21, expression in insect cells and purification of the recombinant protein. Europ. J. Biochem. 231: 317-328, 1995.
[0017652]8240.Kondo, M.; Scherer, D. C.; Miyamoto, T.; King, A. G.; Akashi, K.; Sugamura, K.; Weissman, I. L.: Cell-fate conversion of lymphoid-committed progenitors by instructive actions of cytokines. Nature 407: 383-386, 2000.
[0017653]8241.Le Beau, M. M.; Westbrook, C. A.; Diaz, M. O.; Larson, R. A.; Rowley, J. D.; Gasson, J. C.; Golde, D. W.; Sherr, C. J.: Evidence for the involvement of GM-CSF and FMS in the deletion (5q) in myeloid disorders. Science 231: 984-987, 1986.
[0017654]8242.Morgan, R.; Hecht, B. K.; Sandberg, A. A.; Hecht, F.; Smith, S. D.: Chromosome 5q35 breakpoint in malignant histiocytosis. (Letter) New Eng. J. Med. 314: 1322 only, 1986.
[0017655]8243.Ridge, S. A.; Worwood, M.; Oscier, D.; Jacobs, A.; Padua, R. A. : FMS mutations in myelodysplastic, leukemic, and normal subjects. Proc. Nat. Acad. Sci. 87: 1377-1380, 1990.
[0017656]8244.Roberts, W. M.; Look, A. T.; Roussel, M. F.; Sherr, C. J.: Tandem linkage of human CSF-1 receptor (c-fms) and PDGF receptor genes. Cell 55: 655-661, 1988.
[0017657]8245.Sapi, E.; Flick, M. B.; Kacinski, B. M.: The first intron of human c-fms proto-oncogene contains a processed pseudogene (RPL7P) for ribosomal protein L7. Genomics 22: 641-645, 1994.
[0017658]8246.Verbeek, J. S.; Roebroek, A. J. M.; van den Ouweland, A. M. W.; Bloemers, H. P. J.; Van de Ven, W. J. M.: Human c-fms proto-oncogene: comparative analysis with an abnormal allele. Molec. Cell. Biol. 5: 422-426, 1985.
[0017659]8247.Verbeek, J. S.; van Heerikhuizen, H.; de Pauw, B. E.; Haanen, C.; Bloemers, H. P. J.; Van de Ven, W. J. M.: A hereditary abnormal c-fms proto-oncogene in a patient with acute lymphocytic leukaemia and congenital hypothyroidism. Brit. J. Haemat. 61: 135-138, 1985.
[0017660]8248.Yarden, Y.; Ullrich, A.: Growth factor receptor tyrosine kinases. Ann. Rev. Biochem. 57: 443-478, 1988.
[0017661]8249.Brown, J. R.; Ye, H.; Bronson, R. T.; Dikkes, P.; Greenberg, M. E.: A defect in nurturing in mice lacking the immediate early gene fosB. Cell 86: 297-309, 1996.
[0017662]8250.Forsdyke, D.: Personal Communication. Kingston, Ontario, Canada 6/8/1992.
[0017663]8251.Lazo, P. S.; Dorfman, K.; Noguchi, T.; Mattei, M. G.; Bravo, R. : Structure and mapping of the fosB gene: FosB downregulates the activity of the fosB promoter. Nucleic Acids Res. 20: 343-350, 1992.
[0017664]8252.Nakabeppu, Y.; Nathans, D.: A naturally occurring truncated form of FosB that inhibits Fos/Jun transcriptional activity. Cell 64: 751-759, 1991.
[0017665]8253.Siderovski, D. P.; Blum, S.; Forsdyke, R. E.; Forsdyke, D. R.: A set of human putative lymphocyte G0/G1 switch genes includes genes homologous to rodent cytokine and zinc finger proteinencoding genes. DNA Cell Biol. 9: 579-587, 1990.
[0017666]8254.Kelz, M. B.; Chen, J.; Carlezon, W. A., Jr.; Whisler, K.; Gilden, L.; Beckmann, A. M.; Steffen, C.; Zhang, Y.-J.; Marotti, L.; Self, D. W.; Tkatch, T.; Baranauskas, G.; Surmeier, D. J.; Neve, R. L.; Duman, R. S.; Picciotto, M. R.; Nestler, E. J.: Expression of the transcription factor delta-FosB in the brain controls sensitivity to cocaine. Nature 401: 272-276, 1999.
[0017667]8255.Amaravadi, L. S.; Neff, A. W.; Sleeman, J. P.; Smith, R. C.: Autonomous neural axis formation by ectopic expression of the protooncogene c-ski. Dev. Biol. 192: 392-404, 1997.
[0017668]8256.Balazs, I.; Grzeschik, K. H.; Stavnezer, E.: Assignment of the human homologue of a chicken oncogene to chromosome 1. (Abstract) Cytogenet. Cell Genet. 37: 410-411, 1984.
[0017669]8257.Berk, M.; Desai, S. Y.; Heyman, H. C.; Colmenares, C.: Mice lacking the ski protooncogene have defects in neurulation, craniofacial, patterning, and skeletal muscle development. Genes Dev. 11: 2029-2039, 1997.
[0017670]8258.Chaganti, R. S. K.; Balazs, I.; Jhanwar, S. C.; Murty, V. V. V. S.; Koduru, P. R. K.; Grzeschik, K.-H.; Stavnezer, E.: The cellular homologue of the transforming gene of SKV avian retrovirus maps to human chromosome region 1q22-q24. Cytogenet. Cell Genet. 43: 181-186, 1986.
[0017671]8259.Colmenares, C.; Heilstedt, H. A.; Shaffer, L. G.; Schwartz, S.; Berk, M.; Murray, J. C.; Stavnezer, E.: Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski -/- mice. Nature Genet. 30: 106-109, 2002.
[0017672]8260.Kaufman, C. D.; Martinez-Rodriguez, G.; Hackett, P. B., Jr.: Ectopic expression of c-ski disrupts gastrulation and neural patterning in zebrafish. Mech. Dev. 95: 147-162, 2000.
[0017673]8261.Nomura, N.; Sasamoto, S.; Ishii, S.; Date, T.; Matsui, M.; Ishizaki, R.: Isolation of human cDNA clones of SKI and the SKI-related gene, SNO. Nucleic Acids Res. 17: 5489-5500, 1989.
[0017674]8262.Shapira, S. K.; McCaskill, C.; Northrup, H.; Spikes, A. S.; Elder, F. F. B.; Sutton, V. R.; Korenberg, J. R.; Greenberg, F.; Shaffer, L. G.: Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome. Am. J. Hum. Genet. 61: 642-650, 1997.
[0017675]8263.Shinagawa, T.; Nomura, T.; Colmenares, C.; Ohira, M.; Nakagawara, A.; Ishii, S.: Increased susceptibility to tumorigenesis of ski-deficient heterozygous mice. Oncogene 20: 8100-8108, 2001.
[0017676]8264.Slavotinek, A.; Shaffer, L. G.; Shapira, S. K.: Monosomy 1p36. J. Med. Genet. 36: 657-663, 1999.
[0017677]8265.Sun, Y.; Liu, X.; Eaton, E. N.; Lane, W. S.; Lodish, H. F.; Weinberg, R. A.: Interaction of the Ski oncoprotein with Smad3 regulates TGF-beta signaling. Molec. Cell 4: 499-509, 1999.
[0017678]8266.Sutrave, P.; Kelly, A. M.; Hughes, S. H.: ski can cause selective growth of skeletal muscle in transgenic mice. Genes Dev. 4: 1462-1472, 1990.
[0017679]8267.Boyd, M. T.; Vlatkovic, N.; Haines, D. S.: A novel cellular protein (MTBP) binds to MDM2 and induces a G1 arrest that is suppressed by MDM2. J. Biol. Chem. 275: 31883-31890, 2000.
[0017680]8268.Bueso-Ramos, C. E.; Yang, Y.; deLeon, E.; McCown, P.; Stass, S. A.; Albitar, M.: The human MDM-2 oncogene is overexpressed in leukemias. Blood 82: 2617-2623, 1993.
[0017681]8269.Buschmann, T.; Fuchs, S. Y.; Lee, C.-G.; Pan, Z.-Q.; Ronai, Z. : SUMO-1 modification of Mdm2 prevents its self-ubiquitination and increases Mdm2 ability to ubiquitinate p53. Cell 101: 753-762, 2000. Note: Erratum: Cell 107: 549 only, 2001.
[0017682]8270.Otsu, M.; Hiles, I.; Gout, I.; Fry, M. J.; Ruiz-Larrea, F.; Panayotou, G.; Thompson, A.; Dhand, R.; Hsuan, J.; Totty, N.; Smith, A. D.; Morgan, S. J.; Courtneidge, S. A.; Parker, P. J.; Waterfield, M. D.: Characterization of two 85 kd proteins that associate with receptor tyrosine kinases, middle-T/pp60(c-src) complexes, and PI3-kinase. Cell 65: 91-104, 1991.
[0017683]8271.Volinia, S.; Patracchini, P.; Otsu, M.; Hiles, I.; Gout, I.; Calzolari, E.; Bernardi, F.; Rooke, L.; Waterfield, M. D.: Chromosomal localization of human p85-alpha, a subunit of phosphatidylinositol 3-kinase, and its homologue p85-beta. Oncogene 7: 789-793, 1992.
[0017684]8272.Hilliker, C. E.; Darville, M. I.; Aly, M. S.; Chikri, M.; Szpirer, C.; Marynen, P.; Rousseau, G. G.; Cassiman, J.-J.: Human and rat chromosomal localization of two genes for 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase by analysis of somatic cell hybrids and in situ hybridization. Genomics 10: 867-873, 1991.
[0017685]8273.Hu, Z.; Bonifas, J. M.; Beech, J.; Bench, G.; Shigihara, T.; Ogawa, H.; Ikeda, S.; Mauro, T.; Epstein, E. H., Jr.: Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease. Nature Genet. 24: 61-65, 2000.
[0017686]8274.Steinkasserer, A.; Cockburn, D. J.; Black, D. M.; Boyd, Y.; Solomon, E.; Sim, R. B.: Assignment of apolipoprotein H (APOH: beta-2-glycoprotein I) to human chromosome 17q23-qter; determination of the major expression site. Cytogenet. Cell Genet. 60: 31-33, 1992.
[0017687]8275.Steinkasserer, A.; Dorner, C.; Wurzner, R.; Sim, R. B.: Human beta-2-glycoprotein I: molecular analysis of DNA and amino acid polymorphism. Hum. Genet. 91: 401-402, 1993.
[0017688]8276.Walter, H.; Hilling, M.; Brachtel, R.; Hitzeroth, H. W.: On the population genetics of beta-2-glycoprotein I. Hum. Hered. 29: 236-241, 1979.
[0017689]8277.Budarf, M. L.; Konkle, B. A.; Ludlow, L. B.; Michaud, D.; Li, M.; Yamashiro, D. J.; McDonald-McGinn, D.; Zackai, E. H.; Driscoll, D. A.: Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2. Hum. Molec. Genet. 4: 763-766, 1995.
[0017690]8278.Zieger, B.; Hashimoto, Y.; Ware, J.: Alternative expression of platelet glycoprotein Ibbeta mRNA from an adjacent 5-prime gene with an imperfect polyadenylation signal sequence. J. Clin. Invest. 99: 520-525, 1997.
[0017691]8279.Bakker, E.; Pearson, P. L.; Meera Khan, P.; Schreuder, G. M. T.; Madan, K.: Orientation of major histocompatibility (MHC) genes relative to the centromere of human chromosome 6. Clin. Genet. 15: 198-202, 1979.
[0017692]8280.Goldman, D.; O'Brien, S. J.; Lucas-Derse, S.; Dean, M.: Linkage mapping of human polymorphic proteins identified by two-dimensional electrophoresis. Genomics 11: 875-884, 1991.
[0017693]8281.Ducros, A.; Denier, C.; Joutel, A.; Vahedi, K.; Michel, A.; Darcel, F.; Madigand, M.; Guerouaou, D.; Tison, F.; Julien, J.; Hirsch, E.; Chedru, F.; Bisgard, C.; Lucotte, G.; Despres, P.; Billard, C.; Barthez, M. A.; Ponsot, G.; Bousser, M. G.; Tournier-Lasserve, E.: Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia. Am. J. Hum. Genet. 64: 89-98, 1999.
[0017694]8282.Andre, P.; Srinivasa Prasad, K. S.; Denis, C. V.; He, M.; Papalia, J. M.; Hynes, R. O.; Phillips, D. R.; Wagner, D. D.: CD40L stabilizes arterial thrombi by a beta(3) integrin-dependent mechanism. Nature Med. 8: 247-252, 2002.
[0017695]8283.Roninson, I. B.; Chin, J. E.; Choi, K.; Gros, P.; Housman, D. E.; Fojo, A.; Shen, D.; Gottesman, M. M.; Pastan, I.: Isolation of human mdr DNA sequences amplified in multidrug-resistant KB carcinoma cells. Proc. Nat. Acad. Sci. 83: 4538-4542, 1986.
[0017696]8284.Synold, T. W.; Dussault, I.; Forman, B. M.: The orphan nuclear receptor SXR coordinately regulates drug metabolism and efflux. Nature Med. 7: 584-590, 2001.
[0017697]8285.Alonso, E. M.; Snover, D. C.; Montag, A.; Freese, D. K.; Whitington, P. F.: Histologic pathology of the liver in progressive familial intrahepatic cholestasis. J. Pediat. Gastroent. Nutr. 18: 128-133, 1994.
[0017698]8286.Deleuze, J. F.; Jacquemin, E.; Dubuisson, C.; Cresteil, D.; Dumont, M.; Erlinger, S.; Bernard, O.; Hadchouel, M.: Defect of multidrug-resistance 3 gene expression in a subtype of progressive familial intrahepatic cholestasis. Hepatology 23: 904-908, 1996.
[0017699]8287.Woods, K. A.; Camacho-Hubner, C.; Bergman, R. N.; Barter, D.; Clark, A. J. L.; Savage, M. O.: Effects of insulin-like growth factor I (IGF-I) therapy on body composition and insulin resistance in IGF-I gene deletion. J. Clin. Endocr. Metab. 85: 1407-1411, 2000.
[0017700]8288.Woods, K. A.; Camacho-Hubner, C.; Savage, M. O.; Clark, A. J. L.: Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene. New Eng. J. Med. 335: 1363-1367, 1996.
[0017701]8289.Yang-Feng, T. L.; Brissenden, J. E.; Ullrich, A.; Francke, U. : Sub-regional localization of human genes for insulin-like growth factors I (IGF1) and II (IGF2) by in situ hybridization. (Abstract) Cytogenet. Cell Genet. 40: 782 only, 1985.
[0017702]8290.Yanovski, J. A.; Sovik, K. N.; Nguyen, T. T.; Sebring, N. G.: Insulin-like growth factors and bone mineral density in African American and white girls. J. Pediat. 137: 826-832, 2000.
[0017703]8291.Zhu, J.; Kahn, C. R.: Analysis of a peptide hormone-receptor interaction in the yeast two-hybrid system. Proc. Nat. Acad. Sci. 94: 13063-13068, 1997.
[0017704]8292.Nishi, S.; Seino, S.; Bell, G. I.: Human hexokinase: sequences of amino- and carboxylterminal halves are homologous. Biochem. Biophys. Res. Commun. 157: 937-943, 1988.
[0017705]8293.Rijksen, G.; Akkerman, J. W. N.; van den Wall Bake, A. W. L.; Pott Hofstede, D.; Staal, G. E. J.: Generalized hexokinase deficiency in the blood cells of a patient with nonspherocytic hemolytic anemia. Blood 61: 12-18, 1983.
[0017706]8294.Ritter, H.; Friedrichson, U.; Schmitt, J.: Genetic polymorphism of hexokinase in primates. Humangenetik 22: 265-266, 1974.
[0017707]8295.Rogers, P. A.; Fisher, R. A.; Harris, H.: An electrophoretic study of the distribution and properties of human hexokinases. Biochem. Genet. 13: 857-866, 1975.
[0017708]8296.Ruzzo, A.; Andreoni, F.; Magnani, M.: Structure of the human hexokinase type I gene and nucleotide sequence of the 5-prime flanking region. Biochem. J. 331: 607-613, 1998.
[0017709]8297.Schimke, R. T.; Grossbard, L.: Studies on isozymes of hexokinase in animal tissues. Ann. N.Y. Acad. Sci. 151: 332-350, 1968.
[0017710]8298.Shows, T. B.: Synteny of human genes for glutamic oxaloacetic transaminase and hexokinase in somatic cell hybrids. Cytogenet. Cell Genet. 13: 143-145, 1974.
[0017711]8299.Shows, T. B.; Eddy, R. L.; Byers, M. G.; Haley, L. L.; Henry, W. M.; Nishi, S.; Bell, G. I.: Localization of the human hexokinase I gene (HK1) to chromosome 10q22. (Abstract) Cytogenet. Cell Genet. 51: 1079 only, 1989.
[0017712]8300.Ureta, T.: The comparative isozymology of vertebrate hexokinases. Comp. Biochem. Physiol. 71B: 549-555, 1982.
[0017713]8301.Kobayashi, M.; Takamatsu, K.; Saitoh, S.; Miura, M.; Noguchi, T. : Molecular cloning of hippocalcin, a novel calcium-binding protein of the recoverin family exclusively expressed in hippocampus. Biochem. Biophys. Res. Commun. 189: 511-517, 1992.
[0017714]8302.Takamatsu, K.; Kobayashi, M.; Saitoh, S.; Fujishiro, M.; Noguchi, T.: Molecular cloning of human hippocalcin cDNA and chromosomal mapping of its gene. Biochem. Biophys. Res. Commun. 200: 606-611, 1994.
[0017715]8303.Borrego, S.; Ruiz, A.; Saez, M. E.; Gimm, O.; Gao, X.; Lopez-Alonso, M.; Hernandez, A.; Wright, F. A.; Antinolo, G.; Eng, C.: RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease. J. Med. Genet. 37: 572-578, 2000.
[0017716]8304.Borrego, S.; Saez, M. E.; Ruiz, A.; Gimm, O.; Lopez-Alonso, M.; Antinolo, G.; Eng, C.: Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression. J. Med. Genet. 36: 771-774, 1999.
[0017717]8305.Goldstein, J. L.; Brown, M. S.; Stone, N. J.: Genetics of the LDL receptor: evidence that the mutations affecting binding and internalization are allelic. Cell 12: 629-641, 1977.
[0017718]8306.Goldstein, J. L.; Dana, S. E.; Brunschede, G. Y.; Brown, M. S. : Genetic heterogeneity in familial hypercholesterolemia: evidence for two different mutations affecting functions of low-density lipoprotein receptor. Proc. Nat. Acad. Sci. 72: 1092-1096, 1975.
[0017719]8307.Hobbs, H. H.; Brown, M. S.; Goldstein, J. L.: Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum. Mutat. 1: 445-466, 1992.
[0017720]8308.Hobbs, H. H.; Brown, M. S.; Goldstein, J. L.; Russell, D. W.: Deletion of exon encoding cysteine-rich repeat of low density lipoprotein receptor alters its binding specificity in a subject with familial hypercholesterolemia. J. Biol. Chem. 261: 13114-13120, 1986.
[0017721]8309.Hobbs, H. H.; Russell, D. W.; Brown, M. S.; Goldstein, J. L.: The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein. Annu. Rev. Genet. 24: 133-170, 1990.
[0017722]8310.Horsthemke, B.; Beisiegel, U.; Dunning, A.; Havinga, J. R.; Williamson, R.; Humphries, S.: Unequal crossing-over between two Alu-repetitive DNA sequences in the low-density-lipoproteinreceptor gene: a possible mechanism for the defect in a patient with familial hypercholesterolaemia. Europ. J. Biochem. 164: 77-81, 1987.
[0017723]8311.Khachadurian, A. K.: The inheritance of essential familial hypercholesterolemia. Am. J. Med. 37: 402-407, 1964.
[0017724]8312.Kingsley, D. M.; Krieger, M.: Receptor-mediated endocytosis of low density lipoprotein: somatic cell mutants define multiple genes required for expression of surface-receptor activity. Proc. Nat. Acad. Sci. 81: 5454-5458, 1984.
[0017725]8313.Knight, B. L.; Gavigan, S. J. P.; Soutar, A. K.; Patel, D. D. : Defective processing and binding of low-density lipoprotein receptors in fibroblasts from a familial hypercholesterolaemic subject. Europ. J. Biochem. 179: 693-698, 1989.
[0017726]8314.Knoblauch, H.; Muller-Myhsok, B.; Busjahn, A.; Ben Avi, L.; Bahring, S.; Baron, H.; Heath, S. C.; Uhlmann, R.; Faulhaber, H.-D.; Shpitzen, S.; Aydin, A.; Reshef, A.; and 11 others: A cholesterol-lowering gene maps to chromosome 13q. Am. J. Hum. Genet. 66: 157-166, 2000.
[0017727]8315.Komuro, I.; Kato, H.; Nakagawa, T.; Takahashi, K.; Mimori, A.; Takeuchi, F.; Nishida, Y.; Miyamoto, T.: Case report: the longest-lived patient with homozygous familial hypercholesterolemia secondary to a defect in internalization of the LDL receptor. Am. J. Med. Sci. 294: 341-345, 1987.
[0017728]8316.Kotze, M. J.; Langenhoven, E.; Retief, A. E.; Steyn, K.; Marais, M. P.; Grobbelaar, J. J.; Oosthuizen, C. J. J.; Weich, H. F. H.; Benade, A. J. S.: Haplotype associations of three DNA polymorphisms at the human low density lipoprotein receptor gene locus in familial hypercholesterolemia. J. Med. Genet. 24: 750-755, 1987.
[0017729]8317.Grundy, H. O.; Peltz, G.; Moore, K. W.; Golbus, M. S.; Jackson, L. G.; Lebo, R. V.: The polymorphic Fc-gamma receptor II gene maps to human chromosome 1q. Immunogenetics 29: 331-339, 1989.
[0017730]8318.Kudo, A.; Melchers, F.: A second gene, Vpre-B in the lambda 5 locus of the mouse, which appears to be selectively expressed in pre-B lymphocytes. EMBO J. 6: 2267-2272, 1987.
[0017731]8319.Mattei, M.-G.; Fumoux, F.; Roeckel, N.; Fougereau, M.; Schiff, C.: The human pre-Bspecific lambda-like cluster is located in the 22q11.2-22q12.3 region, distal to the IgC-lambda locus. Genomics 9: 544-546, 1991.
[0017732]8320.Minegishi, Y.; Coustan-Smith, E.; Wang, Y.-H.; Cooper, M. D.; Campana, D.; Conley, M. E.: Mutations in the human lambda-5/14.1 gene result in B cell deficiency and agammaglobulinemia. J. Exp. Med. 187: 71-77, 1998.
[0017733]8321.Pillai, S.; Baltimore, D.: The omega and iota surrogate immunoglobulin light chains. Curr. Top. Microbiol. Immun. 137: 136-139, 1988.
[0017734]8322.Sakaguchi, N.; Melchers, F.: Lambda 5, a new light-chain-related locus selectively expressed in pre-B lymphocytes. Nature 324: 579-582, 1986.
[0017735]8323.Schiff, C.; Milili, M.; Fougereau, M.: Isolation of early immunoglobulin lambda-like gene transcripts in human fetal liver. Europ. J. Immun. 19: 1873-1878, 1989.
[0017736]8324.Lin, P.-F.; Slate, D. L.; Lawyer, F. C.; Ruddle, F. H.: Assignment of the murine interferon sensitivity and cytoplasmic superoxide dismutase genes to chromosome 16. Science 209: 285-287, 1980.
[0017737]8325.Holmes, W. E.; Lee, J.; Kuang, W.-J.; Rice, G. C.; Wood, W. I. : Structure and functional expression of a human interleukin-8 receptor. Science 253: 1278-1280, 1991.
[0017738]8326.Nishimura, D.; Buetow, K. H.; Yamada, Y.; Murray, J. C.: RFLPs and linkage relationships of the human laminin B2 gene. Genomics 3: 393-395, 1988.
[0017739]8327.Juppner, H.: Personal Communication. Boston, Mass. 6/26/1995.
[0017740]8328.Karaplis, A. C.; Luz, A.; Glowacki, J.; Bronson, R. T.; Tybulewicz, V. L. J.; Kronenberg, H. M.; Mulligan, R. C.: Lethal skeletal dysplasia from targeted disruption of the parathyroid hormone-related peptide gene. Genes Dev. 8: 277-289, 1994.
[0017741]8329.Schipani, E.; Kruse, K.; Juppner, H.: A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia. Science 268: 98-100, 1995.
[0017742]8330.Drayna, D.; Fielding, C.; McLean, J.; Baer, B.; Castro, G.; Chen, E.; Comstock, L.; Henzel, W.; Kohr, W.; Rhee, L.; Wion, K.; Lawn, R.: Cloning and expression of human apolipoprotein D cDNA. J. Biol. Chem. 261: 16535-16539, 1986.
[0017743]8331.Drayna, D.; Scott, J. D.; Lawn, R.: Multiple RFLPs at the human apolipoprotein D (APOD) locus. Nucleic Acids Res. 15: 9617 only, 1987.
[0017744]8332.Mattei, M. G.; Bruce, B.; Karsenty, G.: Mouse alpha-1 type V collagen gene maps to the [A2-B] region of chromosome 2. Genomics 16: 786-788, 1993.
[0017745]8333.Nicholls, A. C.; McCarron, S.; Narcisi, P.; Pope, F. M.: Molecular abnormalities of type V collagen in Ehlers Danlos syndrome (Abstract) Am. J. Hum. Genet. 55 (suppl.): A233, 1994.
[0017746]8334.Nicholls, A. C.; Oliver, J. E.; McCarron, S.; Harrison, J. B.; Greenspan, D. S.; Pope, F. M.: An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome. J. Med. Genet. 33: 940-946, 1996.
[0017747]8335.Schwarze, U.; Atkinson, M.; Hoffman, G. G.; Greenspan, D. S.; Byers, P. H.: Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II). Am. J. Hum. Genet. 66: 1757-1765, 2000.
[0017748]8336.Takahara, K.; Hoffman, G. G.; Greenspan, D. S.: Complete structural organization of the human alpha-1(V) collagen gene (COL5A1): divergence from the conserved organization of other characterized fibrillar collagen genes. Genomics 29: 588-597, 1995.
[0017749]8337.Takahara, K.; Sato, Y.; Okazawa, K.; Okamoto, N.; Noda, A.; Yaoi, Y.; Kato, I.: Complete primary structure of human collagen alpha-1(V) chain. J. Biol. Chem. 266: 13124-13129, 1991.
[0017750]8338.Baas, F.; Bikker, H.; Van Ommen, G.-J. B.; de Vijlder, J. J. M. : Unusual scarcity of restriction site polymorphism in the human thyroglobulin gene: a linkage study suggesting autosomal dominance of a defective thyroglobulin allele. Hum. Genet. 67: 301-305, 1984.
[0017751]8339.Takahara, K.; Schwarze, U.; Imamura, Y.; Hoffman, G. G.; Toriello, H.; Smith, L. T.; Byers, P. H.; Greenspan, D. S.: Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha-1(V) Npropeptides and Ehlers-Danlos syndrome type I. Am. J. Hum. Genet. 71: 451-465, 2002.
[0017752]8340.Wenstrup, R. J.; Florer, J. B.; Willing, M. C.; Giunta, C.; Steinmann, B.; Young, F.; Susic, M.; Cole, W. G.: COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS. Am. J. Hum. Genet. 66: 1766-1776, 2000.
[0017753]8341.Imamura, Y.; Scott, I. C.; Greenspan, D. S.: The pro-alpha3(V) collagen chain: complete primary structure, expression domains in adult and developing tissues, and comparison to the structures and expression domains of the other types V and XI procollagen chains. J. Biol. Chem. 275: 8749-8759, 2000.
[0017754]8342.Bonaldo, P.; Braghetta, P.; Zanetti, M.; Piccolo, S.; Volpin, D.; Bressan, G. M.: Collagen VI deficiency induces early onset myopathy in the mouse: an animal model for Bethlem myopathy. Hum. Molec. Genet. 7: 2135-2140, 1998.
[0017755]8343.Chu, M.-L.; Mann, K.; Deutzmann, R.; Pribula-Conway, D.; Hsu-Chen, C.-C.; Bernard, M. P.; Timpl, R.: Characterization of three constituent chains of collagen type VI by peptide sequences and cDNA clones. Europ. J. Biochem. 168: 309-317, 1987.
[0017756]8344.Chung, E.; Rhodes, R. K.; Miller, E. J.: Isolation of three collagenous components of probable basement membrane origin from several tissues. Biochem. Biophys. Res. Commun. 71: 1167-1174, 1976.
[0017757]8345.Cutting, G.; Francomano, C. A.; Chu, M. L.; Timpl, R.; McCormick, M. K.; Warren, A. C.; Hong, H. K.; Pyeritz, R. E.; Antonarakis, S. E.: Genetic linkage analysis and macrorestriction mapping of COL6A1 and COL6A2, structural genes of type VI collagen. (Abstract) Am. J. Hum. Genet. 43: A141 only, 1988.
[0017758]8346.Davies, G. E.; Howard, C. M.; Farrer, M. J.; Coleman, M. M.; Bennett, L. B.; Cullen, L. M.; Wyse, R. K. H.; Burn, J.; Williamson, R.; Kessling, A. M.: Genetic variation in the COL6A1 region is associated with congenital heart defects in trisomy 21 (Down's syndrome). Ann. Hum. Genet. 59: 253-269, 1995.
[0017759]8347.Delabar, J.-M.; Chettouh, Z.; Rahmani, Z.; Theophile, D.; Blouin, J.-L.; Bono, R.; Kraus, J.; Barton, J.; Patterson, D.; Sinet, P.-M. : Gene-dosage mapping of 30 DNA markers on chromosome 21. Genomics 13: 887-889, 1992.
[0017760]8348.Engel, J.; Furthmayr, H.; Odermatt, E.; Von der Mark, H.; Aumailley, M.; Fleishmajer, R.; Timpl, R.: Structure and macromolecular organization of type VI collagen. Ann. N.Y. Acad. Sci. 460: 25-37, 1985.
[0017761]8349.Francomano, C. A.; Cutting, G. R.; McCormick, M. K.; Chu, M. L.; Timpl, R.; Hong, H. K.; Antonarakis, S. E.: The COL6A1 and COL6A2 genes exist as a gene cluster and detect highly informative DNA polymorphisms in the telomeric region of human chromosome 21q. Hum. Genet. 87: 162-166, 1991.
[0017762]8350.Furuto, D. K.; Miller, E. J.: Characterization of a unique collagenous fraction from limited pepsin digests of human placental tissue: molecular organization of the native aggregate. Biochemistry 20: 1635-1640, 1981.
[0017763]8351.Heiskanen, M.; Saitta, B.; Palotie, A.; Chu, M.-L.: Head to tail organization of the human COL6A1 and COL6A2 genes by fiber-FISH. Genomics 29: 801-803, 1995.
[0017764]8352.Hessle, H.; Engvall, E.: Type VI collagen: studies on its localization, structure, and biosynthetic form with monoclonal antibodies. J. Biol. Chem. 259: 3955-3961, 1984.
[0017765]8353.Jander, R.; Rauterberg, J.; Voss, B.; von Bassewitz, D. B.: A cysteine-rich collagenous protein from bovine placenta: isolation of its constituent polypeptide chains and some properties of the non-denatured protein. Europ. J. Biochem. 114: 17-25, 1981.
[0017766]8354.Agar, N. S.; Board, P. G.; Bell, K.: Studies of erythrocyte glyoxalase II in various domestic species: discovery of glyoxalase II deficiency in the horse. Animal Blood Groups Biochem. Genet. 15: 67-70, 1984.
[0017767]8355.Ball, J. C.; Vander Jagt, D. L.: Purification of S-2-hydroxyacylglutathione hydrolase (glyoxalase II) from rat erythrocytes. Anal. Biochem. 98: 472-477, 1979.
[0017768]8356.Board, P. G.: Genetic polymorphism of human erythrocyte glyoxalase II. Am. J. Hum. Genet. 32: 690-694, 1980.
[0017769]8357.Board, P. G.; Gibbs, C. J., Jr.; Gajdusek, D. C.: Polymorphism of erythrocyte glyoxalase II in anthropoid primates. Folia Primatol. 36: 138-143, 1981.
[0017770]8358.Honey, N. K.; Shows, T. B.: Assignment of the glyoxalase II gene (HAGH) to human chromosome 16. Hum. Genet. 58: 358-361, 1981.
[0017771]8359.Mulley, J. C.; Barton, N.; Callen, D. F.: Localisation of human PGP and HAGH genes to 16p13.3. Cytogenet. Cell Genet. 53: 175-176, 1990.
[0017772]8360.Mulley, J. C.; Callen, D. F.: New regional localisations for HAGH and PGP on human chromosome 16. Hum. Genet. 74: 423-424, 1986.
[0017773]8361.Ridderstrom, M.; Saccucci, F.; Hellman, U.; Bergman, T.; Principato, G.; Mannervik, B.: Molecular cloning, heterologous expression, and characterization of human glyoxalase II. J. Biol. Chem. 271: 319-323, 1996.
[0017774]8362.Valentine, W. N.; Paglia, D. E.; Neerhout, R. C.; Konrad, P. N. : Erythrocyte glyoxalase II deficiency with coincidental hereditary elliptocytosis. Blood 36: 797-808, 1970.
[0017775]8363.Beranova, M.; Oliveira, L. M. B.; Bedecarrats, G. Y.; Schipani, E.; Vallejo, M.; Ammini, A. C.; Quintos, J. B.; Hall, J. E.; Martin, K. A.; Hayes, F. J.; Pitteloud, N.; Kaiser, U. B.; Crowley, W. F., Jr.; Seminara, S. B.: Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropin-releasing hormone receptor mutations in idiopathic hypogonadotropic hypogonadism. J. Clin. Endocr. Metab. 86: 1580-1588, 2001.
[0017776]8364.Caron, P.; Chauvin, S.; Christin-Maitre, S.; Bennet, A.; Lahlou, N.; Counis, R.; Bouchard, P.; Kottler, M.-L.: Resistance of hypogonadic patients with mutated GnRH receptor genes to pulsatile GnRH administration. J. Clin. Endocr. Metab. 84: 990-996, 1999.
[0017777]8365.Costa, E. M. F.; Bedecarrats, G. Y.; Mendonca, B. B.; Arnhold, I. J. P.; Kaiser, U. B.; Latronico, A. C.: Two novel mutations in the gonadotropin- releasing hormone receptor gene in Brazilian patients with hypogonadotropic hypogonadism and normal olfaction. J. Clin. Endocr. Metab. 86: 2680-2686, 2001.
[0017778]8366.de Roux, N.; Young, J.; Brailly-Tabard, S.; Misrahi, M.; Milgrom, E.; Schaison, G.: The same molecular defects of the gonadotropin-releasing hormone receptor determine a variable degree of hypogonadism in affected kindred. J. Clin. Endocr. Metab. 84: 567-572, 1999.
[0017779]8367.de Roux, N.; Young, J.; Misrahi, M.; Genet, R.; Chanson, P.; Schaison, G.; Milgrom, E.: A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor. New Eng. J. Med. 337: 1597-1602, 1997.
[0017780]8368.Fan, N. C.; Jeung, E.-B.; Peng, C.; Olofsson, J. I.; Krisinger, J.; Leung, P. C. K.: The human gonadotropin-releasing hormone (GnRH) receptor gene: cloning, genomic organization and chromosomal assignment. Molec. Cell. Endocr. 103: R1-R6, 1994.
[0017781]8369.Hasselback, R.; Marion, R. B.; Thomas, J. W.: Congenital hypofibrinogenemia in five members of a family. Canad. Med. Assoc. J. 88: 19-22, 1963.
[0017782]8370.Iwashita, T.; Murakami, H.; Asai, N.; Takahashi, M.: Mechanism of Ret dysfunction by Hirschsprung mutations affecting its extracellular domain. Hum. Molec. Genet. 5: 1577-1580, 1996.
[0017783]8371.Lehrman, M. A.; Goldstein, J. L.; Brown, M. S.; Russell, D. W.; Schneider, W. J.: Internalization-defective LDL receptors produced by genes with nonsense and frameshift mutations that truncate the cytoplasmic domain. Cell 41: 735-743, 1985.
[0017784]8372.Nezer, C.; Moreau, L.; Brouwers, B.; Coppieters, W.; Detilleux, J.; Hanset, R.; Karim, L.; Kvasz, A.; Leroy, P.; Georges, M.: An imprinted QTL with major effect on muscle mass and fat deposition maps to the IGF2 locus in pigs. (Letter) Nature Genet. 21: 155-156, 1999.
[0017785]8373.Bird, A. P.: CpG islands as gene markers in the vertebrate nucleus. Trends Genet. 3: 342-347, 1987.
[0017786]8374.Maartmann-Moe, K.; Wang, H. S.; Donald, L. J.; Hamerton, J. L.; Berg, K.: Data from hybrid cell lines raise the possibility that factors controlling the low density lipoprotein receptor activity may reside on human chromosome 21, 5 or both. (Abstract) Cytogenet. Cell Genet. 32: 295-296, 1982.
[0017787]8375.Miyake, Y.; Tajima, S.; Funahashi, T.; Yamamoto, A.: Analysis of a recycling-impaired mutant of low density lipoprotein receptor in familial hypercholesterolemia. J. Biol. Chem. 264: 16584-16590, 1989.
[0017788]8376.Ott, J.; Schrott, H. G.; Goldstein, J. L.; Hazzard, W. R.; Allen, F. H.; Falk, C. T.; Motulsky, A. G.: Linkage studies in a large kindred with familial hypercholesterolemia. Am. J. Hum. Genet. 26: 598-603, 1974.
[0017789]8377.Seftel, H. C.; Baker, S. G.; Sandler, M. P.; Forman, M. B.; Joffe, B. I.; Mendelsohn, D.; Jenkins, T.; Mieny, C. J.: A host of hypercholesterolaemic homozygotes in South Africa. Brit. Med. J. 281: 633-636, 1980.
[0017790]8378.Grundy, H. O.; Peltz, G.; Barsh, G.; Moore, K.; Golbus, M. S.; Lebo, R. V.: Immunoglobulin G Fc receptor II and Fc receptor III genes map to chromosome 1 by spot-blot chromosome analysis. (Abstract) Am. J. Hum. Genet. 43: A145, 1988.
[0017791]8379.Hibbs, M. L.; Bonadonna, L.; Scott, B. M.; McKenzie, I. F. C.; Hogarth, P. M.: Molecular cloning of a human immunoglobulin G Fc receptor. Proc. Nat. Acad. Sci. 85: 2240-2244, 1988.
[0017792]8380.Hibbs, M. L.; Hogarth, P. M.; McKenzie, I. F. C.: The mouse Ly-17 locus identifies a polymorphism of the Fc receptor. Immunogenetics 22: 335-348, 1985.
[0017793]8381.Lebo, R. V.; Lynch, E. D.; Wiegant, J.; Moore, K.; Trounstine, M.; van der Ploeg, M.: Multicolor fluorescence in situ hybridization and pulsed field electrophoresis dissect CMT1B gene region. Hum. Genet. 88: 13-20, 1991.
[0017794]8382.Moser, K. L.; Neas, B. R.; Salmon, J. E.; Yu, H.; Gray-McGuire, C.; Asundi, N.; Bruner, G. R.; Fox, J.; Kelly, J.; Henshall, S.; Bacino, D.; Dietz, M.; Hogue, R.; Koelsch, G.; Nightingale, L.; Shaver, T.; Abdou, N. I.; Albert, D. A.; Carson, C.; Petri, M.; Treadwell, E. L.; James, J. A.; Harley, J. B.: Genome scan of human systemic lupus erythematosus: evidence for linkage on chromosome 1q in African-American pedigrees. Proc. Nat. Acad. Sci. 95: 14869-14874, 1998.
[0017795]8383.Oakey, R. J.; Watson, M. L.; Seldin, M. F.: Construction of a physical map on mouse and human chromosome 1: comparison of 13 Mb of mouse and 11 Mb of human DNA. Hum. Molec. Genet. 1: 613-620, 1992.
[0017796]8384.Peltz, G. A.; Grundy, H. O.; Lebo, R. V.; Yssel, H.; Barsh, G. S.; Moore, K. W.: Human Fc-gamma-RIII: cloning, expression, and identification of the chromosomal locus of two Fc receptors for IgG. Proc. Nat. Acad. Sci. 86: 1013-1017, 1989.
[0017797]8385.Qiu, W. Q.; de Bruin, D.; Brownstein, B. H.; Pearse, R.; Ravetch, J. V.: Organization of the human and mouse low-affinity Fc-gamma-R genes: duplication and recombination. Science 248: 732-735, 1990.
[0017798]8386.Salmon, J. E.; Millard, S.; Schachter, L. A.; Arnett, F. C.; Ginzler, E. M.; Gourley, M. F.; Ramsey-Goldman, R.; Peterson, M. G. E.; Kimberly, R. P.: Fc-gamma-RIIA alleles are heritable risk factors for lupus nephritis in African Americans. J. Clin. Invest. 97: 1348-1354, 1996.
[0017799]8387.Sammartino, L.; Webber, L. M.; Hogarth, P. M.; McKenzie, I. F. C.; Garson, O. M.: Assignment of the gene coding for human FcRII (CD32) to bands q23q24 on chromosome 1. Immunogenetics 28: 380-381, 1988.
[0017800]8388.Stein, M.-P.; Edberg, J. C.; Kimberly, R. P.; Mangan, E. K.; Bharadwaj, D.; Mold, C.; Du Clos, T. W.: C-reactive protein binding to Fc-gamma-RIIa on human monocytes and neutrophils is allele-specific. J. Clin. Invest. 105: 369-376, 2000.
[0017801]8389.Unkeless, J. C.: Function and heterogeneity of human Fc receptors for immunoglobulin G. J. Clin. Invest. 83: 355-361, 1989.
[0017802]8390.Ogawa, O.; Becroft, D. M.; Morison, I. M.; Eccles, M. R.; Skeen, J. E.; Mauger, D. C.; Reeve, A. E.: Constitutional relaxation of insulin-like growth factor II gene imprinting associated with Wilms' tumour and gigantism. Nature Genet. 5: 408-412, 1993.
[0017803]8391.Pedone, P. V.; Tirabosco, R.; Cavazzana, A. O.; Ungaro, P.; Basso, G.; Luksch, R.; Carli, M.; Bruni, C. B.; Frunzio, R.; Riccio, A.: Mono- and bi-allelic expression of insulin-like growth factor II gene in human muscle tumors. Hum. Molec. Genet. 3: 1117-1121, 1994.
[0017804]8392.Reeve, A. E.; Eccles, M. R.; Wilkins, R. J.; Bell, G. I.; Millow, L. J.: Expression of insulin-like growth factor-II transcripts in Wilms' tumour. Nature 317: 258-260, 1985.
[0017805]8393.Scott, J.; Cowell, J.; Robertson, M. E.; Priestley, L. M.; Wadey, R.; Hopkins, B.; Pritchard, J.; Bell, G. I.; Rall, L. B.; Graham, C. F.; Knott, T. J.: Insulin-like growth factor-II gene expression in Wilms' tumour and embryonic tissues. Nature 317: 260-262, 1985.
[0017806]8394.Shen, S.-J.; Daimon, M.; Wang, C.-Y.; Jansen, M.; Ilan, J.: Isolation of an insulin-like growth factor II cDNA with a unique 5-prime untranslated region from human placenta. Proc. Nat. Acad. Sci. 85: 1947-1951, 1988.
[0017807]8395.Sun, F.-L.; Dean, W. L.; Kelsey, G.; Allen, N. D.; Reik, W.: Transactivation of IGF2 in a mouse model of Beckwith-Wiedemann syndrome. Nature 389: 809-815, 1997.
[0017808]8396.Tricoli, J. V.; Rall, L. B.; Scott, J.; Bell, G. I.; Shows, T. B.: Insulin-like growth factor genes: chromosome organization and association with disease. (Abstract) Am. J. Hum. Genet. 36: 121S, 1984.
[0017809]8397.Weksberg, R.; Shen, D. R.; Fei, Y.-L.; Song, Q. L.; Squire, J. : Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome. Nature Genet. 5: 143-150, 1993.
[0017810]8398.Zaina, S.; Pettersson, L.; Ahren, B.; Branen, L.; Bassim Hassan, A.; Lindholm, M.; Mattson, R.; Thyberg, J.; Nilsson, J.: Insulin-like growth factor II plays a central role in atherosclerosis in a mouse model. J. Biol. Chem. 277: 4505-4511, 2002.
[0017811]8399.Dixon, P. H.; Weerasekera, N.; Linton, K. J.; Donaldson, O.; Chambers, J.; Egginton, E.; Weaver, J.; Nelson-Piercy, C.; de Swiet, M.; Warnes, G.; Elias, E.; Higgins, C. F.; Johnston, D. G.; McCarthy, M. I.; Williamson, C.: Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein trafficking. Hum. Molec. Genet. 9: 1209-1217, 2000.
[0017812]8400.Jacquemin, E.; Cresteil, D.; Manouvrier, S.; Boute, O.; Hadchouel, M.: Heterozygous non-sense mutation of the MDR3 gene in familial intrahepatic cholestasis of pregnancy. Lancet 353: 210-211, 1999.
[0017813]8401.Chang-Yeh, A.; Jabs, E. W.; Li, X.; Dracopoli, N. C.; Huang, R. C. C.: The IPP gene is assigned to human chromosome 1p32-1p22. Genomics 15: 239-241, 1993.
[0017814]8402.Chang-Yeh, A.; Mold, D. E.; Brilliant, M. H.; Huang, R. C. C.: The mouse intracisternal A particle-promoted placental gene retrotransposition is mouse-strain-specific. Proc. Nat. Acad. Sci. 90: 292-296, 1993.
[0017815]8403.Chang-Yeh, A.; Mold, D. E.; Huang, R. C. C.: Identification of a novel murine IAPpromoted placenta-expressed gene. Nucleic Acids Res. 19: 3667-3672, 1991.
[0017816]8404.Mold, D. E.; Chang-Yeh, A.; Huang, R. C. C.: Cell lineage-specific expression of the MIPP gene. Biochem. Biophys. Res. Commun. 177: 1062-1067, 1991.
[0017817]8405.Cama, A.; de la Luz Sierra, M.; Quon, M. J.; Ottini, L.; Gorden, P.; Taylor, S. I.: Substitution of glutamic acid for alanine 1135 in the putative 'catalytic loop' of the tyrosine kinase domain of the human insulin receptor: a mutation that impairs proteolytic processing into subunits and inhibits receptor tyrosine kinase activity. J. Biol. Chem. 268: 8060-8069, 1993.
[0017818]8406.Cama, A.; Quon, M. J.; de la Luz Sierra, M.; Taylor, S. I.: Substitution of isoleucine for methionine at position 1153 in the beta-subunit of the human insulin receptor. J. Biol. Chem. 267: 8383-8389, 1992.
[0017819]8407.Caro, J. F.; Raju, S. M.; Sinha, M. K.; Goldfine, I. D.; Dohm, G. L.: Heterogeneity of human liver, muscle, and adipose tissue insulin receptor. Biochem. Biophys. Res. Commun. 151: 123-129, 1988.
[0017820]8408.Christiansen, K.; Tranum-Jensen, J.; Carlsen, J.; Vinten, J.: A model for the quaternary structure of human placental insulin receptor deduced from electron microscopy. Proc. Nat. Acad. Sci. 88: 249-252, 1991.
[0017821]8409.Cocozza, S.; Porcellini, A.; Riccardi, G.; Monticelli, A.; Condorelli, G.; Ferrara, A.; Pianese, L.; Miele, C.; Capaldo, B.; Beguinot, F.; Varrone, S.: NIDDM associated with mutation in tyrosine kinase domain of insulin receptor gene. Diabetes 41: 521-526, 1992.
[0017822]8410.Due, C.; Simonsen, M.; Olsson, L.: The major histocompatibility complex class I heavy chain as a structural subunit of the human cell membrane insulin receptor: implications for the range of biological functions of histocompatibility antigens. Proc. Nat. Acad. Sci. 83: 6007-6011, 1986.
[0017823]8411.Ebina, Y.; Ellis, L.; Jarnagin, K.; Edery, M.; Graf, L.; Clauser, E.; Ou, J.-H.; Masiarz, F.; Kan, Y. W.; Goldfine, I. D.; Roth, R. A.; Rutter, W. J.: The human insulin receptor cDNA: the structural basis for hormone activated transmembrane signalling. Cell 40: 747-758, 1985.
[0017824]8412.Elbein, S. C.; Corsetti, L.; Ullrich, A.; Permutt, M. A.: Multiple restriction fragment length polymorphisms at the insulin receptor locus: a highly informative marker for linkage analysis. Proc. Nat. Acad. Sci. 83: 5223-5227, 1986.
[0017825]8413.Elbein, S. C.; Sorensen, L. K.; Schumacher, M. C.: Methionine for valine substitution in exon 17 of the insulin receptor gene in a pedigree with familial NIDDM. Diabetes 42: 429-434, 1993.
[0017826]8414.Ferrannini, E.; Muggeo, M.; Navalesi, R.; Pilo, A.: Impaired insulin degradation in a patient with insulin resistance and acanthosis nigricans. Am. J. Med. 73: 148-154, 1982.
[0017827]8415.Grigorescu, F.; Flier, J. S.; Kahn, C. R.: Characterization of binding and phosphorylation defects of erythrocyte insulin receptors in the type A syndrome of insulin resistance. Diabetes 35: 127-138, 1986.
[0017828]8416.Grigorescu, F.; Flier, J. S.; Kahn, C. R.: Defect in insulin receptor phosphorylation in erythrocytes and fibroblasts associated with severe insulin resistance. J. Biol. Chem. 259: 15003-15006, 1984.
[0017829]8417.Grunberger, G.; Zick, Y.; Gordon, G.: Defect in phosphorylation of insulin receptors in cells from an insulin-resistant patient with normal insulin binding. Science 223: 932-934, 1984.
[0017830]8418.Hone, J.; Accili, D.; Al-Gazali, L. I.; Lestringant, G.; Orban, T.; Taylor, S. I.: Homozygosity for a new mutation (ile119-to-met) in the insulin receptor gene in five sibs with familial insulin resistance. J. Med. Genet. 31: 715-716, 1994.
[0017831]8419.Kadowaki, T.; Bevins, C. L.; Cama, A.; Ojamaa, K.; Marcus-Samuels, B.; Kadowaki, H.; Beitz, L.; McKeon, C.; Taylor, S. I.: Two mutant alleles of the insulin receptor gene in a patient with extreme insulin resistance. Science 240: 787-790, 1988.
[0017832]8420.Kadowaki, T.; Kadowaki, H.; Accili, D.; Taylor, S. I.: Substitution of lysine for asparagine at position 15 in the alpha-subunit of the human insulin receptor: a mutation that impairs transport of receptors to the cell surface and decreases the affinity of insulin binding. J. Biol. Chem. 265: 19143-19150, 1990.
[0017833]8421.Kadowaki, T.; Kadowaki, H.; Accili, D.; Yazaki, Y.; Taylor, S. I.: Substitution of arginine for histidine at position 209 in the alpha-subunit of the human insulin receptor: a mutation that impairs receptor dimerization and transport of receptors to the cell surface. J. Biol. Chem. 266: 21224-21231, 1991.
[0017834]8422.Kadowaki, T.; Kadowaki, H.; Rechler, M. M.; Serrano-Rios, M.; Roth, J.; Gorden, P.; Taylor, S. I.: Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance. J. Clin. Invest. 86: 254-264, 1990.
[0017835]8423.Kadowaki, T.; Kadowaki, H.; Taylor, S. I.: A nonsense mutation causing decreased levels of insulin receptor mRNA: detection by a simplified technique for direct sequencing of genomic DNA amplified by the polymerase chain reaction. Proc. Nat. Acad. Sci. 87: 658-662, 1990.
[0017836]8424.Kahn, C. R.; Flier, J. S.; Bar, R. S.; Archer, J. A.; Gorden, P.; Martin, M. M.; Roth, J.: The syndromes of insulin resistance and acanthosis nigricans: insulin receptor disorders in man. New Eng. J. Med. 294: 739-745, 1976.
[0017837]8425.Kahn, C. R.; Goldstein, B. J.: Molecular defects in insulin action. Science 245: 13 only, 1989.
[0017838]8426.Kahn, C. R.; White, M. F.: The insulin receptor and the molecular mechanism of insulin action. J. Clin. Invest. 82: 1151-1156, 1988.
[0017839]8427.Kakehi, T.; Hisatomi, A.; Kuzuya, H.; Yoshimasa, Y.; Okamoto, M.; Yamada, K.; Nishimura, H.; Kosaki, A.; Nawata, H.; Umeda, F.; Ibayashi, H.; Imura, H.: Defective processing of insulin-receptor precursor in cultured lymphocytes from a patient with extreme insulin resistance. J. Clin. Invest. 81: 2020-2022, 1988.
[0017840]8428.Kittur, D.; Shimizu, Y.; DeMars, R.; Edidin, M.: Insulin binding to human B lymphoblasts is a function of HLA haplotype. Proc. Nat. Acad. Sci. 84: 1351-1355, 1987.
[0017841]8429.Klinkhamer, M. P.; Groen, N. A.; van der Zon, G. C. M.; Lindhout, D.; Sandkuyl, L. A.; Krans, H. M. J.; Moller, W.; Maassen, J. A.: A leucine-to-proline mutation in the insulin receptor in a family with insulin resistance. EMBO J. 8: 2503-2507, 1989.
[0017842]8430.Krook, A.; Brueton, L.; O'Rahilly, S.: Homozygous nonsense mutation in the insulin receptor gene in infant with leprechaunism. Lancet 342: 277-278, 1993.
[0017843]8431.Kulkarni, R. N.; Bruning, J. C.; Winnay, J. N.; Postic, C.; Magnuson, M. A.; Kahn, C. R.: Tissue-specific knockout of the insulin receptor in pancreatic beta cells creates an insulin secretory defect similar to that in type 2 diabetes. Cell 96: 329-339, 1999.
[0017844]8432.Chan, A. M.-L.; Hilkens, J.; Kroezen, V.; Mitchell, P. J.; Scambler, P.; Wainwright, B. J.; Williamson, R.; Cooper, C. S.: Molecular cloning and localization to chromosome 6 of mouse INT1L1 gene. Somat. Cell Molec. Genet. 15: 555-562, 1989.
[0017845]8433.Huguet, E. L.; McMahon, J. A.; McMahon, A. P.; Bicknell, R.; Harris, A. L.: Differential expression of human Wnt genes 2, 3, 4, and 7B in human breast cell lines and normal and disease states of human breast tissue. Cancer Res. 54: 2615-2621, 1994.
[0017846]8434.McCoy, P. A.; Shao, Y.; Wolpert, C. M.; Donnelly, S. L.; Ashley-Koch, A.; Abel, H. L.; Ravan, S. A.; Abramson, R. K.; Wright, H. H.; DeLong, G. R.; Cuccaro, M. L.; Gilbert, J. R.; Pericak-Vance, M. A.: No association between the WNT2 gene and autistic disorder. Am. J. Med. Genet. (Neuropsychiat. Genet.) 114: 106-109, 2002.
[0017847]8435.Nusse, R.; Brown, A.; Papkoff, J.; Scambler, P.; Shackleford, G.; McMahon, A.; Moon, R.; Varmus, H.: A new nomenclature for int-1 and related genes: the Wnt gene family. Cell 64: 231-232, 1991.
[0017848]8436.Wainwright, B. J.; Scambler, P. J.; Stanier, P.; Watson, E. K.; Bell, G.; Wicking, C.; Estivill, X.; Courtney, M.; Bour, A.; Pedersen, P. S.; Williamson, R.; Farrall, M.: Isolation of a human gene with protein sequence similarity to human and murine int-1 and the Drosophila segment polarity mutant wingless. EMBO J. 7: 1743-1748, 1988.
[0017849]8437.Wassink, T. H.; Piven, J.; Vieland, V. J.; Huang, J.; Swiderski, R. E.; Pietila, J.; Braun, T.; Beck, G.; Folstein, S. E.; Haines, J. L.; Sheffield, V. C.: Evidence supporting WNT2 as an autism susceptibility gene. Am. J. Med. Genet. 105: 406-413, 2001.
[0017850]8438.Kluck, P. M. C.; Wiegant, J.; Jansen, R. P. M.; Bolk, M. W. J.; Raap, A. K.; Willemze, R.; Landegent, J. E.: The human interleukin-6 receptor alpha-chain gene is localized on chromosome 1 band q21. Hum. Genet. 90: 542-544, 1993.
[0017851]8439.Szpirer, J.; Szpirer, C.; Riviere, M.; Houart, C.; Baumann, M.; Fey, G. H.; Poli, V.; Cortese, R.; Islam, M. Q.; Levan, G.: The interleukin-6-dependent DNA-binding protein gene (transcription factor 5: TCF5) maps to human chromosome 20 and rat chromosome 3, the IL6 receptor locus (IL6R) to human chromosome 1 and rat chromosome 2, and the rat IL6 gene to rat chromosome 4. Genomics 10: 539-546, 1991.
[0017852]8440.Yamasaki, K.; Taga, T.; Hirata, Y.; Yawata, H.; Kawanishi, Y.; Seed, B.; Taniguchi, T.; Hirano, T.; Kishimoto, T.: Cloning and expression of the human interleukin-6 (BSF-2/IFN-beta-2) receptor. Science 241: 825-828, 1988.
[0017853]8441.Melen, K.; Keskinen, P.; Ronni, T.; Sareneva, T.; Lounatmaa, K.; Julkunen, I.: Human MxB protein, an interferon-alpha-inducible GTPase, contains a nuclear targeting signal and is localized in the hemochromatin region beneath the nuclear envelope. J. Biol. Chem. 271: 23478-23486, 1996.
[0017854]8442.Berry, M. J.; Banu, L.; Larsen, P. R.: Type I iodothyronine deiodinase is a selenocysteine-containing enzyme. Nature 349: 438-440, 1991.
[0017855]8443.Berry, M. J.; Grieco, D.; Taylor, B. A.; Maia, A. L.; Kieffer, J. D.; Beamer, W.; Glover, E.; Poland, A.; Larsen, P. R.: Physiological and genetic analyses of inbred mouse strains with a type I iodothyronine 5-prime deiodinase deficiency. J. Clin. Invest. 92: 1517-1528, 1993.
[0017856]8444.Hatfield, D.; Diamond, A.: UGA: a split personality in the universal genetic code. (Letter) Trends Genet. 9: 69-70, 1993.
[0017857]8445.Jakobs, T. C.; Koehler, M. R.; Schmutzler, C.; Glaser, F.; Schmid, M.; Kohrle, J.: Structure of the human type I iodothyronine 5-prime-deiodinase gene and localization to chromosome 1p32-p33. Genomics 42: 361-363, 1997.
[0017858]8446.Jansen, M.; Krenning, E. P.; Oostdijik, W.; Docter, R.; Kingma, B. E.; Van den Brande, J. V. L.; Hennemann, G.: Hyperthyroxinaemia due to decreased peripheral triiodothyronine production. Lancet II: 849-851, 1982.
[0017859]8447.Kleinhaus, N.; Faber, J.; Kahana, L.; Schneer, J.; Scheinfeld, M.: Euthyroid hyperthyroxinemia due to a generalized 5-prime-deiodinase defect. J. Clin. Endocr. Metab. 66: 684-688, 1988.
[0017860]8448.Maia, A. L.; Berry, M. J.; Sabbag, R.; Harney, J. W.; Larsen, P. R.: Structural and functional differences in the dio1 gene in mice with inherited type 1 deiodinase deficiency. Molec. Endocr. 9: 969-980, 1995.
[0017861]8449.Mandel, S. J.; Berry, M. J.; Kieffer, J. D.; Harney, J. W.; Warne, R. L.; Larsen, P. R.: Cloning and in vitro expression of the human selenoprotein, type I iodothyronine deiodinase. J. Clin. Endocr. Metab. 75: 1133-1139, 1992.
[0017862]8450.Toyoda, N.; Kleinhaus, N.; Larsen, P. R.: The structure of the coding and 5-prime flanking region of the type 1 iodothyronine deiodinase (dio1) gene is normal in a patient with suspected congenital dio1 deficiency. J. Clin. Endocr. Metab. 81: 2121-2124, 1996.
[0017863]8451.Alli, C.; Consalez, G. G.: Linkage mapping of Csrp to proximal mouse chromosome 3. Mammalian Genome 9: 172 only, 1998.
[0017864]8452.Erdel, M.; Weiskirchen, R.: Assignment of CSRP1 encoding the LIM domain protein CRP1, to human chromosome 1q32 by fluorescence in situ hybridization. Cytogenet. Cell Genet. 83: 10-11, 1998.
[0017865]8453.Liebhaber, S. A.; Emery, J. G.; Urbanek, M.; Wang, X.; Cooke, N. E.: Characterization of a human cDNA encoding a widely expressed and highly conserved cysteine-rich protein with an unusual zinc-finger motif. Nucleic Acids Res. 18: 3871-3879, 1990.
[0017866]8454.Weiskirchen, R.; Pino, J. D.; Macalma, T.; Bister, K.; Beckerle, M. C.: The cysteine-rich protein family of highly related LIM domain proteins. J. Biol. Chem. 270: 28946-28954, 1995.
[0017867]8455.Asselta, R.; Duga, S.; Simonic, T.; Malcovati, M.; Santagostino, E.; Giangrande, P. L. F.; Mannucci, P. M.; Tenchini, M. L.: Afibrinogenemia: first identification of a splicing mutation in the fibrinogen gamma chain gene leading to a major gamma chain truncation. Blood 96: 2496-2500, 2000.
[0017868]8456.Bantia, S.; Bell, W. R.; Dang, C. V.: Polymerization defect of fibrinogen Baltimore III due to a gamma-asn308-to-ile mutation. Blood 75: 1659-1663, 1990.
[0017869]8457.Bantia, S.; Mane, S. M.; Bell, W. R.; Dang, C. V.: Fibrinogen Baltimore I: polymerization defect associated with a gamma(292)gly-to-val (GGC-GTC) mutation. Blood 76: 2279-2283, 1990.
[0017870]8458.Brook, J. G.; Tabori, S.; Tatarsky, I.; Hashmonai, M.; Schramek, A.: Fibrinogen 'Haifa'--a new fibrinogen variant: a case report. Haemostasis 13: 277-281, 1983.
[0017871]8459.Brown, C. H., III; Crowe, M. F.: Defective alpha polymerization in the conversion of fibrinogen Baltimore to fibrin. J. Clin. Invest. 55: 1190-1194, 1975.
[0017872]8460.Budzynski, A. Z.; Marder, V. J.; Menache, D.; Guillin, M.-C.: Defect in the gamma polypeptide chain of a congenital abnormal fibrinogen (Paris I). Nature 252: 66-68, 1974.
[0017873]8461.Cote, H. C. F.; Lord, S. T.; Pratt, K. P.: Gamma-chain dysfibrinogenemias: molecular structure-function relationships of naturally occurring mutations in the gamma chain of human fibrinogen. J. Am. Soc. Hemat. 92: 2195-2212, 1998.
[0017874]8462.Crabtree, G. R.; Kant, J. A.: Organization of the rat gamma-fibrinogen gene: alternative mRNA splice patterns produce the gamma-A and gamma-B (gamma-prime) chains of fibrinogen. Cell 31: 159-166, 1982.
[0017875]8463.Ebert, R. F.; Bell, W. R.: Fibrinogen Baltimore IV: congenital dysfibrinogenemia with delayed fibrin monomer polymerization. Thromb. Res. 38: 121-128, 1985.
[0017876]8464.Ebert, R. F.; Bell, W. R.: Fibrinogen Baltimore III: congenital dysfibrinogenemia with a shortened gamma-subunit. Thromb. Res. 51: 251-258, 1988.
[0017877]8465.Fernandez, F. J.; Noguerol, P.; Sosa, R.; Cuesta, B.; Paramo, J. A.; Rocha, E.: Fibrinogen Sevilla, a congenital dysfibrinogenemia characterized by an abnormal monomer aggregation and a defective plasmin lysis. Clin. Chim. Acta 179: 239-250, 1989.
[0017878]8466.Fornace, A. J., Jr.; Cummings, D. E.; Comeau, C. M.; Kant, J. A.; Crabtree, G. R.: Structure of the human gamma-fibrinogen gene: alternate mRNA splicing near the 3-prime end of the gene produces gamma-A and gamma-B forms of gamma-fibrinogen. J. Biol. Chem. 259: 12826-12830, 1984.
[0017879]8467.Haverkate, F.; Samama, M.: Familial dysfibrinogenemia and thrombophilia: Report on a study of the SSC subcommittee on fibrinogen. Thromb. Haemost. 73: 151-161, 1995.
[0017880]8468.Bachman, N. J.; Wu, W.; Schmidt, T. R.; Grossman, L. I.; Lomax, M. I.: The 5-prime region of the COX4 gene contains a novel overlapping gene, NOC4. Mammalian Genome 10: 506-512, 1999.
[0017881]8469.Brown, W. M.; Prager, E. M.; Wang, A.; Wilson, A. C.: Mitochondrial DNA sequences of primates: tempo and mode of evolution. J. Molec. Evol. 18: 225-239, 1982.
[0017882]8470.Darras, B. T.; Zeviani, M.; Schon, E. A.; Francke, U.: Sequences homologous to cytochrome c oxidase subunit IV are located on human chromosomes 14q21-qter and 16q22-q24. (Abstract) Cytogenet. Cell Genet. 46: 603 only, 1987.
[0017883]8471.Lomax, M. I.; Hewett-Emmett, D.; Yang, T. L.; Grossman, L. I.: Rapid evolution of the human gene for cytochrome c oxidase subunit IV. Proc. Nat. Acad. Sci. 89: 5266-5270, 1992.
[0017884]8472.Lomax, M. I.; Welch, M. D.; Darras, B. T.; Francke, U.; Grossman, L. I.: Novel use of a chimpanzee pseudogene for chromosomal mapping of human cytochrome c oxidase subunit IV. Gene 86: 209-216, 1990.
[0017885]8473.Makris, G. J.; Samuelson, L. C.; Lomax, M. I.: The gene encoding subunit IV of cytochrome c oxidase maps to mouse chromosome 8. Mammalian Genome 7: 789-790, 1996.
[0017886]8474.Zeviani, M.; Nakagawa, M.; Herbert, J.; Lomax, M. I.; Grossman, L. I.; Sherbany, A. A.; Miranda, A. F.; DiMauro, S.; Schon, E. A. : Isolation of a cDNA clone encoding subunit IV of human cytochrome c oxidase. Gene 55: 205-217, 1987.
[0017887]8475.Wang, X.; Lee, G.; Liebhaber, S. A.; Cooke, N. E.: Human cysteine-rich protein: a member of the LIM/double-finger family displaying coordinate serum induction with c-myc. J. Biol. Chem. 267: 9176-9184, 1992.
[0017888]8476.Wang, X.; Ray, K.; Szpirer, J.; Levan, G.; Liebhaber, S. A.; Cooke, N. E.: Analysis of the human cysteine-rich protein gene (CSRP), assignment to chromosome 1q24-1q32, and identification of an associated MspI polymorphism. Genomics 14: 391-397, 1992.
[0017889]8477.Courseaux, A.; Grosgeorge, J.; Gaudray, P.; Pannett, A. A. J.; Forbes, S. A.; Williamson, C.; Bassett, D.; Thakker, R. V.; Teh, B. T.; Farnebo, F.; Shepherd, J.; Skogseid, B.; Larsson, C.; Giraud, S.; Zhang, C. X.; Salandre, J.; Calender, A.: Definition of the minimal MEN1 candidate area based on a 5-Mb integrated map of proximal 11q13. Genomics 37: 354-365, 1996.
[0017890]8478.Dorin, J. R.; Emslie, E.; van Heyningen, V.: Related calcium-binding proteins map to the same subregion of chromosome 1q and to an extended region of synteny on mouse chromosome 3. Genomics 8: 420-426, 1990.
[0017891]8479.Anagnou, N. P.; Antonarakis, S. E.; O'Brien, S. J.; Modi, W. S.; Nienhuis, A. W.: Chromosomal localization and racial distribution of the polymorphic human dihydrofolate reductase pseudogene (DHFRPI). Am. J. Hum. Genet. 42: 345-352, 1988.
[0017892]8480.Anagnou, N. P.; Antonarakis, S. E.; O'Brien, S. J.; Nienhuis, A. W.: Chromosomal localization and racial distribution of the polymorphic hDHFR-psi-1 pseudogene. (Abstract) Clin. Res. 33: 328A only, 1985.
[0017893]8481.Anagnou, N. P.; Antonarakis, S. E.; O'Brien, S. J.; Nienhuis, A. W.: A novel form of human polymorphism involving the hDHFR-psi-1 pseudogene identifies three RFLPs. Nucleic Acids Res. 15: 5501 only, 1987.
[0017894]8482.Anagnou, N. P.; O'Brien, S. J.; Shimada, T.; Nash, W. G.; Chen, M.-J.; Nienhuis, A. W.: Chromosomal organization of the human dihydrofolate reductase genes: dispersion, selective amplification and a novel form of polymorphism. Proc. Nat. Acad. Sci. 81: 5170-5174, 1984.
[0017895]8483.Blakley, R. L.; Sorrentino, B. P.: In vitro mutations in dihydrofolate reductase that confer resistance to methotrexate: potential for clinical application. Hum. Mutat. 11: 259-263, 1998.
[0017896]8484.Chen, M.-J.; Shimada, T.; Moulton, A. D.; Harrison, M.; Nienhuis, A. W.: Intronless human dihydrofolate reductase genes are derived from processed RNA molecules. Proc. Nat. Acad. Sci. 79: 7435-7439, 1982.
[0017897]8485.Craik, C. S.; Rutter, W. J.; Fletterick, R.: Splice junctions: association with variation in protein structure. Science 220: 1125-1129, 1983.
[0017898]8486.Erbe, R. W.: Inborn errors of folate metabolism. New Eng. J. Med. 293: 753-757 and 807-812, 1975.
[0017899]8487.Funanage, V. L.; Myoda, T. T.; Moses, P. A.; Cowell, H. R.: Assignment of the human dihydrofolate reductase gene to the q11-q22 region of chromosome 5. Molec. Cell. Biol. 4: 2010-2016, 1984.
[0017900]8488.Hoffbrand, A. V.; Tripp, E.; Jackson, B. F. A.; Luck, W. E.; Frater-Schroder, M.: Hereditary abnormal transcobalamin II previously diagnosed as congenital dihydrofolate reductase deficiency. (Letter) New Eng. J. Med. 310: 789-790, 1984.
[0017901]8489.Killary, A. M.; Leach, R. J.; Moran, R. G.; Fournier, R. E. K. : Assignment of genes encoding dihydrofolate reductase and hexosaminidase B to Mus musculus chromosome 13. Somat. Cell Molec. Genet. 12: 641-648, 1986.
[0017902]8490.Maurer, B.; Barker, P. E.; Masters, J. N.; D'Eustachio, P.; Ruddle, F. H.; Attardi, G.: Chromosomal location of the normal human DHFR gene and of its amplified copies in methotrexate resistant cell variants. (Abstract) Cytogenet. Cell Genet. 37: 534 only, 1984.
[0017903]8491.Maurer, B. J.; Barker, P. E.; Masters, J. N.; Ruddle, F. H.; Attardi, G.: Human dihydrofolate reductase gene is located in chromosome 5 and is unlinked to the related pseudogenes. Proc. Nat. Acad. Sci. 81: 1484-1488, 1984.
[0017904]8492.Maurer, B. J.; Carlock, L.; Wasmuth, J.; Attardi, G.: Assignment of human dihydrofolate reductase gene to band q23 of chromosome 5 and of related pseudogene psiHD1 to chromosome 3. Somat. Cell Molec. Genet. 11: 79-85, 1985.
[0017905]8493.Myoda, T. T.; Funanage, V. L.: Personal Communication. Wilmington, Del. 10/7/1983.
[0017906]8494.Singer, M. J.; Mesner, L. D.; Friedman, C. L.; Trask, B. J.; Hamlin, J. L.: Amplification of the human dihydrofolate reductase gene via double minutes is initiated by chromosome breaks. Proc. Nat. Acad. Sci. 97: 7921-7926, 2000.
[0017907]8495.Tauro, G. P.; Danks, D. M.; Rowe, P. B.; Van der Weyden, M. B.; Schwarz, M. A.; Collins, V. L.; Neal, B. W.: Dihydrofolate reductase deficiency causing megaloblastic anemia in two families. New Eng. J. Med. 294: 466-470, 1976.
[0017908]8496.Walters, T. R.: Congenital megaloblastic anemia responsive to N(5)-formyltetrahydrofolic acid administration. J. Pediat. 70: 686-687, 1967.
[0017909]8497.Ali, G.; Wasco, W.; Cai, X.; Szabo, P.; Sheu, K.-F. R.; Cooper, A. J. L.; Gaston, S. M.; Gusella, J. F.; Tanzi, R. E.; Blass, J. P. : Isolation, characterization, and mapping of gene encoding dihydrolipoyl succinyltransferase (E2k) of human alpha-ketoglutarate dehydrogenase complex. Somat. Cell Molec. Genet. 20: 99-105, 1994.
[0017910]8498.Nakano, K.; Matuda, S.; Sakamoto, T.; Takase, C.; Nakagawa, S.; Ohta, S.; Ariyama, T.; Inazawa, J.; Abe, T.; Miyata, T.: Human dihydrolipoamide succinyltransferase: cDNA cloning and localization on chromosome 14q24.2-q24.3. Biochim. Biophys. Acta 1216: 360-368, 1993.
[0017911]8499.Nakano, K.; Takase, C.; Sakamoto, T.; Ohta, S.; Nakagawa, S.; Ariyama, T.; Inazawa, J.; Abe, T.; Matuda, S.: An unspliced cDNA for human dihydrolipoamide succinyltransferase: characterization and mapping of the gene to chromosome 14q24.2-q24.3. Biochem. Biophys. Res. Commun. 196: 527-533, 1993.
[0017912]8500.Patel, M. S.; Harris, R. A.: Mammalian alpha-keto acid dehydrogenase complexes: gene regulation and genetic defects. FASEB J. 9: 1164-1172, 1995.
[0017913]8501.Wenstrup, R. J.; Langland, G. T.; Willing, M. C.; D'Souza, V. N.; Cole, W. G.: A splicejunction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro-alpha-1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I). Hum. Molec. Genet. 5: 1733-1736, 1996.
[0017914]8502.De Paepe, A.; Nuytinck, L.; Hausser, I.; Anton-Lamprecht, I.; Naeyaert, J.-M.: Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II. Am. J. Hum. Genet. 60: 547-554, 1997.
[0017915]8503.Palmer, G.; Manen, D.; Bonjour, J.-P.; Caverzasio, J.: Characterization of the human Glvr-1 phosphate transporter/retrovirus receptor gene and promoter region. Gene 226: 25-33, 1999.
[0017916]8504.Fan, N. C.; Peng, C.; Krisinger, J.; Leung, P. C. K.: The human gonadotropin-releasing hormone receptor gene: complete structure including multiple promoters, transcription initiation sites, and polyadenylation signals. Molec. Cell. Endocr. 107: R1-R8, 1995.
[0017917]8505.Nakano, A.; Pfendner, E.; Pulkkinen, L.; Hashimoto, I.; Uitto, J.: Herlitz junctional epidermolysis bullosa: novel and recurrent mutations in the LAMB3 gene and the population carrier frequency. J. Invest. Derm. 115: 493-498, 2000.
[0017918]8506.Boghosian-Sell, L.; Comings, D. E.; Overhauser, J.: Tourette syndrome in a pedigree with a 7;18 translocation: identification of a YAC spanning the translocation breakpoint at 18q22.3. Am. J. Hum. Genet. 59: 999-1005, 1996.
[0017919]8507.Collod-Beroud, G.; Lackmy-Port-Lys, M.; Jondeau, G.; Mathieu, M.; Maingourd, Y.; Coulon, M.; Guillotel, M.; Junien, C.; Boileau, C. : Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation. (Letter) Am. J. Hum. Genet. 65: 917-921, 1999.
[0017920]8508.Corson, G. M.; Chalberg, S. C.; Dietz, H. C.; Charbonneau, N. L.; Sakai, L. Y.: Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5-prime end. Genomics 17: 476-484, 1993.
[0017921]8509.De Paepe, A.; Devereux, R. B.; Dietz, H. C.; Hennekam, R. C. M.; Pyeritz, R. E.: Revised diagnostic criteria for the Marfan syndrome. Am. J. Med. Genet. 62: 417-426, 1996.
[0017922]8510.Dietz, H. C.; Cutting, G. R.; Pyeritz, R. E.; Maslen, C. L.; Sakai, L. Y.; Corson, G. M.; Puffenberger, E. G.; Hamosh, A.; Nanthakumar, E. J.; Curristin, S. M.; Stetten, G.; Meyers, D. A.; Francomano, C. A.: Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 352: 337-339, 1991.
[0017923]8511.Dietz, H. C.; Kendzior, R. J., Jr.: Maintenance of an open reading frame as an additional level of scrutiny during splice site selection. Nature Genet. 8: 183-188, 1994.
[0017924]8512.Dietz, H. C.; McIntosh, I.; Sakai, L. Y.; Corson, G. M.; Chalberg, S. C.; Pyeritz, R. E.; Francomano, C. A.: Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome. Genomics 17: 468-475, 1993.
[0017925]8513.Dietz, H. C.; Pyeritz, R. E.: Molecular biology: to the heart of the matter. (Editorial) New Eng. J. Med. 330: 930-932, 1994.
[0017926]8514.Dietz, H. C.; Pyeritz, R. E.: Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders. Hum. Molec. Genet. 4: 1799-1809, 1995.
[0017927]8515.Dietz, H. C.; Pyeritz, R. E.; Puffenberger, E. G.; Kendzior, R. J., Jr.; Corson, G. M.; Maslen, C. L.; Sakai, L. Y.; Francomano, C. A.; Cutting, G. R.: Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene. J. Clin. Invest. 89: 1674-1680, 1992.
[0017928]8516.Dietz, H. C.; Saraiva, J. M.; Pyeritz, R. E.; Cutting, G. R.; Francomano, C. A.: Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains. Hum. Mutat. 1: 366-374, 1992.
[0017929]8517.Dietz, H. C.; Sood, I.; McIntosh, I.: The phenotypic continuum associated with FBN1 mutations includes the Shprintzen-Goldberg syndrome. (Abstract) Am. J. Hum. Genet. 57: A211, 1995.
[0017930]8518.Dietz, H. C.; Valle, D.; Francomano, C. A.; Kendzior, R. J., Jr.; Pyeritz, R. E.; Cutting, G. R.: The skipping of constitutive exons in vivo induced by nonsense mutations. Science 259: 680-683, 1993.
[0017931]8519.Downing, A. K.; Knott, V.; Werner, J. M.; Cardy, C. M.; Campbell, I. D.; Handford, P. A.: Solution structure of a pair of calcium-binding epidermal growth factor-like domains: implications for the Marfan syndrome and other genetic disorders. Cell 85: 597-605, 1996.
[0017932]8520.Eldadah, Z. A.; Brenn, T.; Furthmayr, H.; Dietz, H. C.: Expression of a mutant human fibrillin allele upon a normal human or murine genetic background recapitulates a Marfan cellular phenotype. J. Clin. Invest. 95: 874-880, 1995.
[0017933]8521.Eldadah, Z. A.; Grifo, J. A.; Dietz, H. C.: Marfan syndrome as a paradigm for transcripttargeted preimplantation diagnosis of heterozygous mutations. Nature Med. 1: 798-803, 1995.
[0017934]8522.Francke, U.; Berg, M. A.; Tynan, K.; Brenn, T.; Liu, W.; Aoyama, T.; Gasner, C.; Miller, D. C.; Furthmayr, H.: A gly1127ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection. Am. J. Hum. Genet. 56: 1287-1296, 1995.
[0017935]8523.Gayraud, B.; Keene, D. R.; Sakai, L. Y.; Ramirez, F.: New insights into the assembly of extracellular microfibrils from the analysis of the fibrillin 1 mutation in the tight skin mouse. J. Cell Biol. 150: 667-679, 2000.
[0017936]8524.Glesby, M. J.; Pyeritz, R. E.: Association of mitral valve prolapse and systemic abnormalities of connective tissue: a phenotypic continuum. J.A.M.A. 262: 523-528, 1989.
[0017937]8525.Godfrey, M.; Vandemark, N.; Wang, M.; Velinov, M.; Wargowski, D.; Tsipouras, P.; Han, J.; Becker, J.; Robertson, W.; Droste, S.; Rao, V. H.: Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome. Am. J. Hum. Genet. 53: 472-480, 1993.
[0017938]8526.Hayward, C.; Brock, D. J. H.: Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies. Hum. Mutat. 10: 415-423, 1997.
[0017939]8527.Hayward, C.; Keston, M.; Brock, D. J. H.; Dietz, H. C.: Fibrillin (FBN1) mutations in Marfan syndrome. (Letter) Hum. Mutat. 1: 79, 1992.
[0017940]8528.Hayward, C.; Porteous, M. E.; Brock, D. J. H.: Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: report of 12 novel mutations. Hum. Mutat. 10: 280-289, 1997.
[0017941]8529.Hayward, C.; Porteous, M. E. M.; Brock, D. J. H.: Identification of a novel nonsense mutation in the fibrillin gene (FBN1) using nonisotopic techniques. Hum. Mutat. 3: 159-162, 1994.
[0017942]8530.Hewett, D. R.; Lynch, J. R.; Smith, R.; Sykes, B. C.: A novel fibrillin mutation in the Marfan syndrome which could disrupt calcium binding of the epidermal growth factor-like module. Hum. Molec. Genet. 2: 475-477, 1993.
[0017943]8531.Hollister, D. W.; Godfrey, M.; Sakai, L. Y.; Pyeritz, R. E.: Immunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndrome. New Eng. J. Med. 323: 152-159, 1990.
[0017944]8532.Hutchinson, S.; Wordsworth, B. P.; Handford, P. A.: Marfan syndrome caused by a mutation in FBN1 that gives rise to cryptic splicing and a 33 nucleotide insertion in the coding sequence. Hum. Genet. 109: 416-420, 2001.
[0017945]8533.Judge, D. P.; Biery, N. J.; Dietz, H. C.: Characterization and microsatellite markers flanking FBN1: utility in the diagnostic evaluation for Marfan syndrome. Am. J. Med. Genet. 99: 39-47, 2001.
[0017946]8534.Kainulainen, K.; Sakai, L. Y.; Child, A.; Pope, F. M.; Puhakka, L.; Ryhanen, L.; Palotie, A.; Kaitila, I.; Peltonen, L.: Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides. Proc. Nat. Acad. Sci. 89: 5917-5921, 1992.
[0017947]8535.Grosse, R.; Schoneberg, T.; Schultz, G.; Gudermann, T.: Inhibition of gonadotropinreleasing hormone receptor signaling by expression of a splice variant of the human receptor. Molec. Endocr. 11: 1305-1318, 1997.
[0017948]8536.Kaiser, U. B.; Dushkin, H.; Altherr, M. R.; Beier, D. R.; Chin, W. W.: Chromosomal localization of the gonadotropin-releasing hormone receptor gene to human chromosome 4q13.1-q21.1 and mouse chromosome 5. Genomics 20: 506-508, 1994.
[0017949]8537.Kakar, S. S.; Musgrove, L. C.; Devor, D. C.; Sellers, J. C.; Neill, J. D.: Cloning, sequencing, and expression of human gonadotropin releasing hormone (GnRH) receptor. Biochem. Biophys. Res. Commun. 189: 289-295, 1992.
[0017950]8538.Kakar, S. S.; Neill, J. D.: The human gonadotropin-releasing hormone receptor gene (GNRHR) maps to chromosome band 4q13. Cytogenet. Cell Genet. 70: 211-214, 1995.
[0017951]8539.Kottler, M.-L.; Chauvin, S.; Lahlou, N.; Harris, C. E.; Johnston, C. J.; Lagarde, J.-P.; Bouchard, P.; Farid, N. R.; Counis, R.: A new compound heterozygous mutation of the gonadotropinreleasing hormone receptor (L314X, Q106R) in a woman with complete hypogonadotropic hypogonadism: chronic estrogen administration amplifies the gonadotropin defect. J. Clin. Endocr. Metab. 85: 3002-3008, 2000.
[0017952]8540.Kottler, M.-L.; Counis, R.; Bouchard, P.: Mutations of the GnRH receptor gene: a new cause of autosomal-recessive hypogonadotropic hypogonadism. Arch. Med. Res. 30: 481-485, 1999.
[0017953]8541.Kottler, M. L.; Lorenzo, F.; Bergametti, F.; Commercon, P.; Souchier, C.; Counis, R.: Subregional mapping of the human gonadotropin-releasing hormone receptor (GnRH-R) gene to 4q between the markers D4S392 and D4S409. Hum. Genet. 96: 477-480, 1995.
[0017954]8542.Layman, L. C.; Cohen, D. P.; Jin, M.; Xie, J.; Li, Z.; Reindollar, R. H.; Bolbolan, S.; Bick, D. P.; Sherins, R. R.; Duck, L. W.; Musgrove, L. C.; Sellers, J. C.; Neill, J. D.: Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism. (Letter) Nature Genet. 18: 14-15, 1998.
[0017955]8543.Leung, P. C. K.; Squire, J.; Peng, C.; Fan, N.; Hayden, M. R.; Olofsson, J. I.: Mapping of the gonadotropin-releasing hormone (GnRH) receptor gene to human chromosome 4q21.2 by fluorescence in situ hybridization. Mammalian Genome 6: 309-310, 1995.
[0017956]8544.Mason, A. J.; Hayflick, J. S.; Zoeller, R. T.; Young, W. S., III; Phillips, H. S.; Nikolics, K.; Seeburg, P. H.: A deletion truncating the gonadotropin-releasing hormone gene is responsible for hypogonadism in the 'hpg' mouse. Science 234: 1366-1371, 1986.
[0017957]8545.Morrison, N.; Sellar, R. E.; Boyd, E.; Eidne, K. A.; Connor, J. M.: Assignment of the gene encoding the human gonadotropin-releasing hormone receptor to 4q13.2-13.3 by fluorescence in situ hybridization. Hum. Genet. 93: 714-715, 1994.
[0017958]8546.Pitteloud, N.; Boepple, P. A.; DeCruz, S.; Valkenburgh, S. B.; Crowley, W. F., Jr.; Hayes, F. J.: The fertile eunuch variant of idiopathic hypogonadotropic hypogonadism: spontaneous reversal associated with a homozygous mutation in the gonadotropin-releasing hormone receptor. J. Clin. Endocr. Metab. 86: 2470-2475, 2001.
[0017959]8547.Pralong, F. P.; Gomez, F.; Castillo, E.; Cotecchia, S.; Abuin, L.; Aubert, M. L.; Portmann, L.; Gaillard, R. C.: Complete hypogonadotropic hypogonadism associated with a novel inactivating mutation of the gonadotropin-releasing hormone receptor. J. Clin. Endocr. Metab. 84: 3811-3816, 1999.
[0017960]8548.Szende, B.; Srkalovic, G.; Timar, J.; Mulchahey, J. J.; Neill, J. D.; Lapis, K.; Csikos, A.; Szepeshazi, K.; Schally, A. V.: Localization of receptors for luteinizing hormone-releasing hormone in pancreatic and mammary cancer cells. Proc. Nat. Acad. Sci. 88: 4153-4156, 1991.
[0017961]8549.Aganna, E.; Aksentijevich, I.; Hitman, G. A.; Kastner, D. L.; Hoepelman, A. I. M.; Posma, F. D.; Zweers, E. J. K.; McDermott, M. F.: Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Dutch family: evidence for a TNFRSF1A mutation with reduced penetrance. Europ. J. Hum. Genet. 9: 63-66, 2001.
[0017962]8550.Mulley, J.; Saar, K.; Hewitt, G.; Ruschendorf, F.; Phillips, H.; Colley, A.; Sillence, D.; Reis, A.; Wilson, M.: Gene localization for an autosomal dominant familial periodic fever to 12p13. Am. J. Hum. Genet. 62: 884-889, 1998.
[0017963]8551.Williamson, L. M.; Hull, D.; Mehta, R.; Reeves, W. G.; Robinson, B. H. B.; Toghill, P. J.: Familial hibernian fever. Quart. J. Med. 51: 469-480, 1982.
[0017964]8552.Bahler, M.; Kehrer, I.; Gordon, L.; Stoffler, H.-E.; Olsen, A. S.: Physical mapping of human myosin-IXB (MYO9B), the human orthologue of the rat myosin myr 5, to chromosome 19p13.1. Genomics 43: 107-109, 1997.
[0017965]8553.Miyajima, N.; Kadowaki, Y.; Fukushige, S.; Shimizu, S.; Semba, K.; Yamanashi, Y.; Matsubara, K.; Toyoshima, K.; Yamamoto, T.: Identification of two novel members of erbA superfamily by molecular cloning: the gene products of the two are highly related to each other. Nucleic Acids Res. 16: 11057-11073, 1988.
[0017966]8554.Qiu, Y.; Krishnan, V.; Zeng, Z.; Gilbert, D. J.; Copeland, N. G.; Gibson, L.; Yang-Feng, T.; Jenkins, N. A.; Tsai, M.-J.; Tsai, S. Y. : Isolation, characterization, and chromosomal localization of mouse and human COUP-TF I and II genes. Genomics 29: 240-246, 1995.
[0017967]8555.Hawiger, J.; Timmons, S.; Kloczewiak, M.; Strong, D. D.; Doolittle, R. F.: Gamma and alpha chains of human fibrinogen possess sites reactive with human platelet receptors. Proc. Nat. Acad. Sci. 79: 2068-2071, 1982.
[0017968]8556.Henry, I.; Uzan, G.; Weil, D.; Nicolas, H.; Kaplan, J. C.; Marguerie, G.; Kahn, A.; Junien, C.: The genes coding for the A-alpha, B-beta, and gamma chains of fibrinogen are located on chromosome 4. (Abstract) Cytogenet. Cell Genet. 37: 490-491, 1984.
[0017969]8557.Koopman, J.; Haverkate, F.; Briet, E.; Lord, S. T.: A congenitally abnormal fibrinogen (Vlissingen) with a 6-base deletion in the gamma-chain gene, causing defective calcium binding and impaired fibrin polymerization. J. Biol. Chem. 266: 13456-13461, 1991.
[0017970]8558.Koopman, J.; Haverkate, F.; Lord, S.; Caekebeke-Peerlinck, K.; Brommer, E.; Briet, E.: A six base deletion in the gamma-chain gene of dysfibrinogen Vlissingen, coding for asn319 and asp320, resulting in defective interaction with calcium. (Abstract) Thromb. Haemost. 62: 158 only, 1989.
[0017971]8559.Lounes, K. C.; Soria, C.; Mirshahi, S. S.; Desvignes, P.; Mirshahi, M.; Bertrand, O.; Bonnet, P.; Koopman, J.; Soria, J.: Fibrinogen Ales: a homozygous case of dysfibrinogenemia (gammaasp330-to-val) characterized by a defective fibrin polymerization site 'a'. Blood 96: 3473-3479, 2000.
[0017972]8560.Marder, V. J.: Personal Communication. Philadelphia, Pa. 12/8/1974.
[0017973]8561.Margaglione, M.; Santacroce, R.; Colaizzo, D.; Seripa, D.; Vecchione, G.; Lupone, M. R.; De Lucia, D.; Fortina, P.; Grandone, E.; Perricone, C.; Di Minno, G.: A G-to-A mutation in IVS-3 of the human gamma fibrinogen gene causing afibrinogenemia due to abnormal RNA splicing. Blood 96: 2501-2505, 2000.
[0017974]8562.Matsuda, M.; Baba, M.; Morimoto, K.; Nakamikawa, C.: 'Fibrinogen Tokyo II': an abnormal fibrinogen with an impaired polymerization site on the aligned DD domain of fibrin molecules. J. Clin. Invest. 72: 1034-1041, 1983.
[0017975]8563.Miyata, T.; Furukawa, K.; Iwanaga, S.; Takamatsu, J.; Saito, H. : Fibrinogen Nagoya, a replacement of glutamine-329 by arginine in the gamma-chain that impairs the polymerization of fibrin monomer. J. Biochem. 105: 10-14, 1989.
[0017976]8564.Mosesson, M. W.; Amrani, D. L.; Menache, D.: Studies on the structural abnormality of fibrinogen Paris I. J. Clin. Invest. 57: 782-790, 1976.
[0017977]8565.Mosesson, M. W.; Siebenlist, K. R.; DiOrio, J. P.; Matsuda, M.; Hainfeld, J. F.; Wall, J. S.: The role of fibrinogen D domain intermolecular association sites in the polymerization of fibrin and fibrinogen Tokyo II (gamma-275 Arg-to-Cys). J. Clin. Invest. 96: 1053-1058, 1995.
[0017978]8566.Mullin, J. L.; Brennan, S. O.; Ganly, P. S.; George, P. M.: Fibrinogen Hillsborough: a novel gamma-gly309asp dysfibrinogen with impaired clotting. Blood 99: 3597-3601, 2002.
[0017979]8567.Okumura, N.; Furihata, K.; Terasawa, F.; Nagagoshi, R.; Ueno, I.; Katsuyama, T.: Fibrinogen Matsumoto I: a gamma 364 asp-to-his (GAT-to-CAT) substitution associated with defective fibrin polymerization. Thromb. Haemost. 75: 887-891, 1996.
[0017980]8568.Okumura, N.; Gorkun, O. V.; Lord, S. T.: Severely impaired polymerization of recombinant fibrinogen gamma-364 asp-to-his, the substitution discovered in a heterozygous individual. J. Biol. Chem. 272: 29596-29601, 1997.
[0017981]8569.Reber, P.; Furlan, M.; Henschen, A.; Kaudewitz, H.; Barbui, T.; Hilgard, P.; Nenci, G. G.; Berrettini, M.; Beck, E. A.: Three abnormal fibrinogen variants with the same amino acid substitution (gamma275 arg-to-his): fibrinogens Bergamo II, Essen and Perugia. Thromb. Haemost. 56: 401-406, 1986.
[0017982]8570.Reber, P.; Furlan, M.; Rupp, C.; Kehl, M.; Henschen, A.; Mannucci, P. M.; Beck, E. A.: Characterization of fibrinogen Milano I: amino acid exchange gamma-330 asp-to-val impairs fibrin polymerization. Blood 67: 1751-1756, 1986.
[0017983]8571.Rixon, M. W.; Chung, D. W.; Davie, E. W.: Nucleotide sequence of the gene for the gamma chain of human fibrinogen. Biochemistry 24: 2077-2086, 1985.
[0017984]8572.Rosenberg, J. B.; Newman, P. J.; Mosesson, M. W.; Guillin, M.-C.; Amrani, D. L.: Paris I dysfibrinogenemia: a point mutation in intron 8 results in insertion of a 15 amino acid sequence in fibrinogen gamma-chain. Thromb. Haemost. 69: 217-220, 1993.
[0017985]8573.Schmelzer, C. H.; Ebert, R. F.; Bell, W. R.: Fibrinogen Baltimore IV: congenital dysfibrinogenemia with a gamma-275 (arg-to-cys) substitution. Thromb. Res. 56: 307-316, 1989.
[0017986]8574.Siebenlist, K. R.; Mosesson, M. W.; Di Orio, J. P.; Tavori, S.; Tatarsky, I.; Rimon, A.: The polymerization of fibrin prepared from fibrinogen Haifa (gamma-275-arg-to-his). Thromb. Haemost. 62: 875-879, 1989.
[0017987]8575.Terukina, S.; Matsuda, M.; Hirata, H.; Takeda, Y.; Miyata, T.; Takao, T.; Shimonishi, Y.: Substitution of gamma-arg-275 by cys in an abnormal fibrinogen, 'fibrinogen Osaka II': evidence for a unique solitary cystine structure at the mutation site. J. Biol. Chem. 263: 13579-13587, 1988.
[0017988]8576.Terukina, S.; Yamazumi, K.; Okamoto, K.; Yamashita, H.; Ito, Y.; Matsuda, M.: Fibrinogen Kyoto III: a congenital dysfibrinogen with a gamma aspartic acid-330 to tyrosine substitution. Blood 74: 2681-2687, 1989.
[0017989]8577.Yamazumi, K.; Shimura, K.; Terukina, S.; Takahashi, N.; Matsuda, M.: A gamma methionine-310 to threonine substitution and consequent N-glycosylation at gamma asparagine-308 identified in a congenital dysfibrinogenemia associated with posttraumatic bleeding, fibrinogen Asahi. J. Clin. Invest. 83: 1590-1597, 1989.
[0017990]8578.Yamazumi, K.; Terukina, S.; Onohara, S.; Matsuda, M.: Normal plasmic cleavage of the gamma-chain variant of 'fibrinogen Saga' with an arg275-to-his substitution. Thromb. Haemost. 60: 476-480, 1988.
[0017991]8579.Yoshida, N.; Hirata, H.; Morigami, Y.; Imaoka, S.; Matsuda, M.; Yamazumi, K.; Asakura, S.: Characterization of an abnormal fibrinogen Osaka V with the replacement of gammaarginine 375 by glycine: the lack of high affinity calcium binding to D-domains and the lack of protective effect of calcium on fibrinolysis. J. Biol. Chem. 267: 2753-2759, 1992.
[0017992]8580.Petek, E.; Windpassinger, C.; Vincent, J. B.; Cheung, J.; Boright, A. P.; Scherer, S. W.; Kroisel, P. M.; Wagner, K.: Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome. Am. J. Hum. Genet. 848-858, 2001.
[0017993]8581.Azen, E. A.; Leutenegger, W.; Peters, E. H.: Evolutionary and dietary aspects of salivary basic (Pb) and post Pb (PPb) proteins in anthropoid primates. Nature 273: 775-778, 1978.
[0017994]8582.Peters, E. H.; Goodfriend, T.; Azen, E. A.: Human Pb, human post-Pb, and nonhuman primate Pb proteins: immunological and biochemical relationships. Biochem. Genet. 15: 947-962, 1977.
[0017995]8583.Sabatini, L. M.; Azen, E. A.: Histatins, a family of salivary histidine-rich proteins, are encoded by at least two loci (HIS1 and HIS2). Biochem. Biophys. Res. Commun. 160: 495-502, 1989.
[0017996]8584.vanderSpek, J. C.; Wyandt, H. E.; Skare, J. C.; Milunsky, A.; Oppenheim, F. G.; Troxler, R. F.: Localization of the genes for histatins to human chromosome 4q13 and tissue distribution of the mRNAs. Am. J. Hum. Genet. 45: 381-387, 1989.
[0017997]8585.Azen, E. A.: Properties of salivary basic proteins showing polymorphism. Biochem. Genet. 9: 69-86, 1973.
[0017998]8586.Azen, E. A.: Personal Communication. Madison, Wis. 3/27/1990.
[0017999]8587.Azen, E. A.: Genetic polymorphism of basic proteins from parotid saliva. Science 176: 673-674, 1972.
[0018000]8588.Helmerhorst, E. J.; Troxler, R. F.; Oppenheim, F. G.: The human salivary peptide histatin 5 exerts its antifungal activity through the formation of reactive oxygen species. Proc. Nat. Acad. Sci. 98: 14637-14642, 2001.
[0018001]8589.Oppenheim, F. G.; Xu, T.; McMillian, F. M.; Levitz, S. M.; Diamond, R. D.; Offner, G. D.; Troxler, R. F.: Histatins, a novel family of histidine-rich proteins in human parotid secretion. Isolation, characterization, primary structure, and fungistatic effects on Candida albicans. J. Biol. Chem. 263: 7472-7477, 1988.
[0018002]8590.Peters, E. H.; Azen, E. A.: Isolation and partial characterization of human parotid basic proteins. Biochem. Genet. 15: 925-946, 1977.
[0018003]8591.Kaelbling, M.; Eddy, R.; Shows, T. B.; Copeland, N. G.; Gilbert, D. J.; Jenkins, N. A.; Klinger, H. P.; O'Hara, B.: Localization of the human gene allowing infection by gibbon ape leukemia virus to human chromosome region 2q11-q14 and to the homologous region on mouse chromosome 2. J. Virol. 65: 1743-1747, 1991.
[0018004]8592.Kavanaugh, M. P.; Miller, D. G.; Zhang, W.; Law, W.; Kozak, S. L.; Kabat, D.; Miller, A. D.: Cell-surface receptors for gibbon ape leukemia virus and amphotropic murine retrovirus are inducible sodium-dependent phosphate symporters. Proc. Nat. Acad. Sci. 91: 7071-7075, 1994.
[0018005]8593.O'Hara, B.; Johann, S. V.; Klinger, H. P.; Blair, D. G.; Rubinson, H.; Dunn, K. J.; Sass, P.; Vitek, S. M.; Robins, T.: Characterization of a human gene conferring sensitivity to infection by gibbon ape leukemia virus. Cell Growth Differ. 1: 119-127, 1990.
[0018006]8594.Palmer, G.; Manen, D.; Bonjour, J.-P.; Caverzasio, J.: Species-specific mechanisms control the activity of the Pit1/PIT1 phosphate transporter gene promoter in mouse and human. Gene 279: 49-62, 2001.
[0018007]8595.Welch, W. J.; Diamond, M. I.: Glucocorticoid modulation of androgen receptor nuclear aggregation and cellular toxicity is associated with distinct forms of soluble expanded polyglutamine protein. Hum. Molec. Genet. 10: 3063-3074, 2001.
[0018008]8596.Aizawa, T.; Asanuma, N.; Terauchi, Y.; Suzuki, N.; Komatsu, M.; Itoh, N.; Nakabayashi, T.; Hidaka, H.; Ohnota, H.; Yamauchi, K.; Yasuda, K.; Yazaki, Y.; Kadowaki, T.; Hashizume, K.: Analysis of the pancreatic beta cell in the mouse with targeted disruption of the pancreatic beta cell-specific glucokinase gene. Biochem. Biophys. Res. Commun. 229: 460-465, 1996.
[0018009]8597.Bali, D.; Svetlanov, A.; Lee, H.-W.; Fusco-DeMane, D.; Leiser, M.; Li, B.; Barzilai, N.; Surana, M.; Hou, H.; Fleischer, N.; DePinho, R.; Rossetti, L.; Efrat, S.: Animal model for maturity-onset diabetes of the young generated by disruption of the mouse glucokinase gene. J. Biol. Chem. 270: 21464-21467, 1995.
[0018010]8598.Byrne, M. M.; Sturis, J.; Clement, K.; Vionnet, N.; Pueyo, M. E.; Stoffel, M.; Takeda, J.; Passa, P.; Cohen, D.; Bell, G. I.; Velho, G.; Froguel, P.; Polonsky, K. S.: Insulin secretory abnormalities in subjects with hyperglycemia due to glucokinase mutations. J. Clin. Invest. 93: 1120-1130, 1994.
[0018011]8599.Chiu, K. C.; Tanizawa, Y.; Permutt, M. A.: Non-sense mutation of glucokinase gene. (Letter) Lancet 341: 385-386, 1993.
[0018012]8600.Concannon, P.: Personal Communication. Seattle, Wash. 7/26/1995.
[0018013]8601.Froguel, P.; Velho, G.: Non-sense mutation of glucokinase gene. (Letter) Lancet 341: 385 only, 1993.
[0018014]8602.Froguel, P.; Zouali, H.; Vionnet, N.; Velho, G.; Vaxillaire, M.; Sun, F.; Lesage, S.; Stoffel, M.; Takeda, J.; Passa, P.; Permutt, M. A.; Beckmann, J. S.; Bell, G. I.; Cohen, D.: Familial hyperglycemia due to mutations in glucokinase: definition of a subtype of diabetes mellitus. New Eng. J. Med. 328: 697-702, 1993.
[0018015]8603.Glaser, B.; Kesavan, P.; Heyman, M.; Davis, E.; Cuesta, A.; Buchs, A.; Stanley, C. A.; Thornton, P. S.; Permutt, M. A.; Matschinsky, F. M.; Herold, K. C.: Familial hyperinsulinism caused by an activating glucokinase mutation. New Eng. J. Med. 338: 226-230, 1998.
[0018016]8604.Glaser, B.; Thornton, P. S.; Herold, K.; Stanley, C. A.: Clinical and molecular heterogeneity of familial hyperinsulinism. (Letter) J. Pediat. 133: 801-802, 1998.
[0018017]8605.Grupe, A.; Hultgren, B.; Ryan, A.; Ma, Y. H.; Bauer, M.; Stewart, T. A.: Transgenic knockouts reveal a critical requirement for pancreatic beta cell glucokinase in maintaining glucose homeostasis. Cell 83: 69-78, 1995.
[0018018]8606.Hattersley, A. T.; Turner, R. C.; Permutt, M. A.; Patel, P.; Tanizawa, Y.; Chiu, K. C.; O'Rahilly, S.; Watkins, P. J.; Wainscoat, J. S.: Linkage of type 2 diabetes to the glucokinase gene. Lancet 339: 1307-1310, 1992.
[0018019]8607.Heimberg, H.; De Vos, A.; Moens, K.; Quartier, E.; Bouwens, L.; Pipeleers, D.; Van Schaftingen, E.; Madsen, O.; Schuit, F.: The glucose sensor protein glucokinase is expressed in glucagonproducing alpha-cells. Proc. Nat. Acad. Sci. 93: 7036-7041, 1996.
[0018020]8608.Katagiri, H.; Asano, T.; Ishihara, H.; Inukai, K.; Anai, M.; Miyazaki, J.; Tsukuda, K.; Kikuchi, M.; Yazaki, Y.; Oka, Y.: Nonsense mutation of glucokinase gene in late-onset non-insulindependent diabetes mellitus. Lancet 340: 1316-1317, 1992.
[0018021]8609.Matschinsky, F.; Liang, Y.; Kesavan, P.; Wang, L.; Froguel, P.; Velho, G.; Cohen, D.; Permutt, M. A.; Tanizawa, Y.; Jetton, T. L.; Niswender, K.; Magnuson, M. A.: Glucokinase as pancreatic beta-cell glucose sensor and diabetes gene. J. Clin. Invest. 92: 2092-2098, 1993.
[0018022]8610.Matschinsky, F. M.: Glucokinase as glucose sensor and metabolic signal generator in pancreatic beta-cells and hepatocytes. Diabetes 39: 647-652, 1990.
[0018023]8611.Matsutani, A.; Janssen, R.; Donis-Keller, H.; Permutt, M. A.: A polymorphic (CA)n repeat element maps the human glucokinase gene (GCK) to chromosome 7p. Genomics 12: 319-325, 1992.
[0018024]8612.Mishra, S. K.; Helms, C.; Dorsey, D.; Permutt, M. A.; Donis-Keller, H.: A 2-cM genetic linkage map of human chromosome 7p that includes 47 loci. Genomics 12: 326-334, 1992.
[0018025]8613.Njolstad, P. R.; Sovik, O.; Cuesta-Munoz, A.; Bjorkhaug, L.; Massa, O.; Barbetti, F.; Undlien, D. E.; Shiota, C.; Magnuson, M. A.; Molven, A.; Matschinsky, F. M.; Bell, G. I.: Neonatal diabetes mellitus due to complete glucokinase deficiency. New Eng. J. Med. 344: 1588-1592, 2001.
[0018026]8614.Permutt, M. A.; Chiu, K. C.; Tanizawa, Y.: Glucokinase and NIDDM: a candidate gene that paid off. Diabetes 41: 1367-1372, 1992.
[0018027]8615.Randle, P. J.: Glucokinase and candidate genes for type 2 (non-insulin-dependent) diabetes mellitus. Diabetologia 36: 269-275, 1993.
[0018028]8616.Rowe, R. E.; Wapelhorst, B.; Bell, G. I.; Risch, N.; Spielman, R. S.; Concannon, P.: Linkage and association between insulin-dependent diabetes mellitus (IDDM) susceptibility and markers near the glucokinase gene on chromosome 7. Nature Genet. 10: 240-245, 1995.
[0018029]8617.Stoffel, M.; Bell, K. L.; Blackburn, C. L.; Powell, K. L.; Seo, T. S.; Takeda, J.; Vionnet, N.; Xiang, K.-S.; Gidh-Jain, M.; Pilkis, S. J.; Ober, C.; Bell, G. I.: Identification of glucokinase mutations in subjects with gestational diabetes mellitus. Diabetes 42: 937-940, 1993.
[0018030]8618.Hayashi, K.; Yano, H.; Hashida, T.; Takeuchi, R.; Takeda, O.; Asada, K.; Takahashi, E.; Kato, I.; Sobue, K.: Genomic structure of the human caldesmon gene. Proc. Nat. Acad. Sci. 89: 12122-12126, 1992.
[0018031]8619.Humphrey, M. B.; Herrera-Sosa, H.; Gonzalez, G.; Lee, R.; Bryan, J.: Cloning of cDNAs encoding human caldesmons. Gene 112: 197-204, 1992.
[0018032]8620.Dickson, K. M.; Bergeron, J. J. M.; Shames, I.; Colby, J.; Nguyen, D. T.; Chevet, E.; Thomas, D. Y.; Snipes, G. J.: Association of calnexin with mutant peripheral myelin protein-22 ex vivo: a basis for 'gain-of-function' ER diseases. Proc. Nat. Acad. Sci. 99: 9852-9857, 2002.
[0018033]8621.Gray, P. W.; Byers, M. G.; Eddy, R. L.; Shows, T. B.: The assignment of the calnexin gene to the q35 region of chromosome 5. (Abstract) Human Genome Mapping Workshop 93 9 only, 1993.
[0018034]8622.Schrag, J. D.; Bergeron, J. J. M.; Li, Y.; Borisova, S.; Hahn, M.; Thomas, D. Y.; Cygler, M.: The structure of calnexin, an ER chaperone involved in quality control of protein folding. Molec. Cell 8: 633-644, 2001.
[0018035]8623.Tjoelker, L. W.; Seyfried, C. E.; Eddy, R. L., Jr.; Byers, M. G.; Shows, T. B.; Calderon, J.; Schreiber, R. B.; Gray, P. W.: Human, mouse, and rat calnexin cDNA cloning: identification of potential calcium binding motifs and gene localization to human chromosome 5. Biochemistry 33: 3229-3236, 1994.
[0018036]8624.Ohno, S.; Minoshima, S.; Kudoh, J.; Fukuyama, R.; Ohmi-Imajoh, S.; Suzuki, K.; Shimizu, Y.; Shimizu, N.: Four genes for the calpain family locate on four distinct human chromosomes. Cytogenet. Cell Genet. 51: 1054-1055, 1989.
[0018037]8625.Chen, C.-S.; Bejeck, B. E.; Kersey, J. H.: A mapping study of 13 genes on human chromosome bands 4q11-q25. Cytogenet. Cell Genet. 69: 260-265, 1995.
[0018038]8626.Fujiwara, Y.; Miwa, M.; Nogami, M.; Okumura, K.; Nobori, T.; Suzuki, T.; Ueda, M.: Genomic organization and chromosomal localization of the human casein gene family. Hum. Genet. 99: 368-373, 1997.
[0018039]8627.Rijnkels, M.; Meershoek, E.; de Boer, H. A.; Pieper, F. R.: Physical map and localization of the human casein gene locus. Mammalian Genome 8: 285-286, 1997.
[0018040]8628.Dayhoff, M. O.: Atlas of Protein Sequence and Structure. Silver Spring, Md.: National Biomedical Research Foundation (pub.) 1976.
[0018041]8629.Ferretti, L.; Leone, P.; Sgaramella, V.: Long range restriction analysis of the bovine casein genes. Nucleic Acids Res. 18: 6829-6833, 1990.
[0018042]8630.Lonnerdal, B.; Bergstrom, S.; Andersson, Y.; Hjalmarsson, K.; Sundqvist, A. K.; Hernell, O.: Cloning and sequencing of a cDNA encoding human milk beta-casein. FEBS Lett. 269: 153-156, 1990.
[0018043]8631.McConkey, E. H.; Menon, R.; Williams, G.; Baker, E.; Sutherland, G. R.: Assignment of the gene for beta-casein (CSN2) to 4q13-q21 in humans and 3p13-p12 in chimpanzees. Cytogenet. Cell Genet. 72: 60-62, 1996.
[0018044]8632.Menon, R. S.; Chang, Y.-F.; Jeffers, K. F.; Ham, R. G.: Exon skipping in human betacasein. Genomics 12: 13-17, 1992.
[0018045]8633.Menon, R. S.; Chang, Y.-F.; Jeffers, K. F.; Jones, C.; Ham, R. G.: Regional localization of human beta-casein gene (CSN2) to 4pter-q21. Genomics 13: 225-226, 1992.
[0018046]8634.Menon, R. S.; Ham, R. G.: Human beta-casein: partial cDNA sequence and apparent polymorphism. Nucleic Acids Res. 17: 2869, 1989.
[0018047]8635.Threadgill, D. W.; Womack, J. E.: Genomic analysis of the major bovine milk protein genes. Nucleic Acids Res. 18: 6935-6942, 1990.
[0018048]8636.Wyszomierski, S. L.; Rosen, J. M.: Cooperative effects of STAT5 (signal transducer and activator of transcription 5) and C/EBP beta (CCAAT/enhancer-binding protein-beta) on beta-casein gene transcription are mediated by the glucocorticoid receptor. Molec. Endocr. 15: 228-240, 2001.
[0018049]8637.Kurotaki, N.; Imaizumi, K.; Harada, N.; Masuno, M.; Kondoh, T.; Nagai, T.; Ohashi, H.; Naritomi, K.; Tsukahara, M.; Makita, Y.; Sugimoto, T.; Sonoda, T.; and 11 others: Haploinsufficiency of NSD1 causes Sotos syndrome. Nature Genet. 30: 365-366, 2002.
[0018050]8638.Vandenberg, P.; Khillan, J. S.; Prockop, D. J.; Helminen, H.; Kontusaari, S.; Ala-Kokko, L.: Expression of a partially deleted gene of a human type II procollagen (COL2A1) in transgenic mice produces a chondrodysplasia. Proc. Nat. Acad. Sci. 88: 7640-7644, 1991.
[0018051]8639.van der Rest, M.; Rosenberg, L. C.; Olsen, B. R.; Poole, A. R. : Chondrocalcin is identical with the C-propeptide of type II procollagen. Biochem. J. 237: 923-925, 1986.
[0018052]8640.Vikkula, M.; Ritvaniemi, P.; Vuorio, A. F.; Kaitila, I.; Ala-Kokko, L.; Peltonen, L.: A mutation in the amino-terminal end of the triple helix of type II collagen causing severe osteochondrodysplasia. Genomics 16: 282-285, 1993.
[0018053]8641.Vissing, H.; D'Alessio, M.; Lee, B.; Ramirez, F.; Godfrey, M.; Hollister, D. W.: Glycine to serine substitution in the triple helical domain of pro-alpha-1(II) collagen results in a lethal perinatal form of short-limbed dwarfism. J. Biol. Chem. 264: 18265-18267, 1989.
[0018054]8642.Wagner, H.: Ein bisher unbeknantes Erbleiden des Auges (degeneratio hyaloideoretinalis hereditaria), beobachtet im Kanton, Zurich. Klin. Mbl. Augenheilk. 100: 840-857, 1938.
[0018055]8643.Weis, M. A.; Wilkin, D. J.; Kim, H. J.; Wilcox, W. R.; Lachman, R. S.; Rimoin, D. L.; Cohn, D. H.; Eyre, D. R.: Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation. J. Biol. Chem. 273: 4761-4768, 1998.
[0018056]8644.Weiss, E. H.; Cheah, S. E.; Grosveld, F. G.; Dahl, H. H. M.; Solomon, E.; Flavell, R. A.: Isolation and characterization of a human collagen alpha1(I)-like gene from a cosmid library. Nucleic Acids Res. 10: 1981-1992, 1982.
[0018057]8645.Wilkin, D. J.; Bogaert, R.; Lachman, R. S.; Rimoin, D. L.; Eyre, D. R.; Cohn, D. H.: A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia. Hum. Molec. Genet. 3: 1999-2003, 1994.
[0018058]8646.Williams, C. J.; Considine, E. L.; Knowlton, R. G.; Reginato, A.; Neumann, G.; Harrison, D.; Buxton, P.; Jimenez, S.; Prockop, D. J.: Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an arg75-to-cys mutation in the procollagen type II gene (COL2A1). Hum. Genet. 92: 499-505, 1993.
[0018059]8647.Williams, C. J.; Rock, M.; Considine, E.; McCarron, S.; Gow, P.; Ladda, R.; McLain, D.; Michels, V. M.; Murphy, W.; Prockop, D. J.; Ganguly, A.: Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 arg519-to-cys base substitution using conformation sensitive gel electrophoresis. Hum. Molec. Genet. 4: 309-312, 1995.
[0018060]8648.Winterpacht, A.; Hilbert, M.; Schwarze, U.; Mundlos, S.; Spranger, J.; Zabel, B. U.: Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect. Nature Genet. 3: 323-326, 1993.
[0018061]8649.Winterpacht, A.; Schwarze, U.; Mundlos, S.; Menger, H.; Spranger, J.; Zabel, B.: Alternative splicing as the result of a type II procollagen gene (COL2A1) mutation in a patient with Kniest dysplasia. Hum. Molec. Genet. 3: 1891-1893, 1994.
[0018062]8650.Wu, J.-J.; Eyre, D. R.: Structural analysis of cross-linking domains in cartilage type XI collagen: insights on polymeric assembly. J. Biol. Chem. 270: 18865-18870, 1995.
[0018063]8651.Yoo, T. J.; Tomoda, K.; Stuart, J. M.; Kang, A. H.; Townes, A. S.: Type II collageninduced autoimmune otospongiosis: a preliminary report. Ann. Otol. Rhinol. Laryng. 92: 103-108, 1983.
[0018064]8652.Young, M. F.; Vogeli, G.; Nunez, A. M.; Fernandez, M. P.; Sullivan, M.; Sobel, M. E.: Isolation of cDNA and genomic DNA clones encoding type II collagen. Nucleic Acids Res. 12: 4207-4228, 1984.
[0018065]8653.Bateman, J. F.; Lamande, S. R.; Dahl, H.-H. M.; Chan, D.; Cole, W. G.: Substitution of arginine for glycine 664 in the collagen alpha-1(I) chain in lethal perinatal osteogenesis imperfecta. J. Biol. Chem. 263: 11627-11630, 1988.
[0018066]8654.Brandi, M. L.; Aurbach, G. D.; Fitzpatrick, L. A.; Quarto, R.; Spiegel, A. M.; Bliziotes, M. M.; Norton, J. A.; Doppman, J. L.; Marx, S. J.: Parathyroid mitogenic activity in plasma from patients with familial multiple endocrine neoplasia type 1. New Eng. J. Med. 314: 1287-1293, 1986.
[0018067]8655.Colao, A.; Di Somma, C.; Pivonello, R.; Loche, S.; Aimaretti, G.; Cerbone, G.; Faggiano, A.; Corneli, G.; Ghigo, E.; Lombardi, G. : Bone loss is correlated to the severity of growth hormone deficiency in adult patients with hypopituitarism. J. Clin. Endocr. Metab. 84: 1919-1924, 1999.
[0018068]8656.Lee, S.; Lin, M.; Mele, A.; Cao, Y.; Farmar, J.; Russo, D.; Redman, C.: Proteolytic processing of big endothelin-3 by the Kell blood group protein. Blood 94: 1440-1450, 1999.
[0018069]8657.Pingault, V.; Bondurand, N.; Lemort, N.; Sancandi, M.; Ceccherini, I.; Hugot, J.-P.; Jouk, P.-S.; Goossens, M.: A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes? (Letter) J. Med. Genet. 38: 205-208, 2001.
[0018070]8658.Svensson, P.-J.; Von Tell, D.; Molander, M.-L.; Anvret, M.; Nordenskjold, A.: A heterozygous frameshift mutation in the endothelin-3 (EDN-3) gene in isolated Hirschsprung's disease. Pediat. Res. 45: 714-717, 1999.
[0018071]8659.Cyr, C.; Huebner, K.; Druck, T.; Kris, R.: Cloning and chromosomal localization of a human endothelin ETA receptor. Biochem. Biophys. Res. Commun. 181: 184-190, 1991.
[0018072]8660.Hosoda, K.; Nakao, K.; Tamura, N.; Arai, H.; Ogawa, Y.; Suga, S.; Nakanishi, S.; Imura, H.: Organization, structure, chromosomal assignment, and expression of the gene encoding the human endothelin-A receptor. J. Biol. Chem. 267: 18797-18804, 1992.
[0018073]8661.Tzourio, C.; El Amrani, M.; Poirier, O.; Nicaud, V.; Bousser, M.-G.; Alperovitch, A.: Association between migraine and endothelin type A receptor (ETA -231 A/G) gene polymorphism. Neurology 56: 1273-1277, 2001.
[0018074]8662.Carrasquillo, M. M.; McCallion, A. S.; Puffenberger, E. G.; Kashuk, C. S.; Nouri, N.; Chakravarti, A.: Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease. Nature Genet. 32: 237-244, 2002.
[0018075]8663.Charlton, P.; Guida, L.; Copeland, N.; Jenkins, N.; Munroe, D.; Greenberg, F.; Fiedorek, F. T.; Nicholls, R. D.: Genetic approach to function of the neuropeptide galanin. (Abstract) Am. J. Hum. Genet. 53 (suppl.): A1137, 1993.
[0018076]8664.Evans, H.; Baumgartner, M.; Shine, J.; Herzog, H.: Genomic organization and localization of the gene encoding human preprogalanin. Genomics 18: 473-477, 1993.
[0018077]8665.Evans, H. F.; Shine, J.: Human galanin: molecular cloning reveals a unique structure. Endocrinology 129: 1682-1684, 1991.
[0018078]8666.Harris, G. W.: Neural control of the pituitary gland. Physiol. Rev. 28: 139-179, 1948.
[0018079]8667.Holmes, F. E.; Mahoney, S.; King, V. R.; Bacon, A.; Kerr, N. C. H.; Pachnis, V.; Curtis, R.; Priestley, J. V.; Wynick, D.: Targeted disruption of the galanin gene reduces the number of sensory neurons and their regenerative capacity. Proc. Nat. Acad. Sci. 97: 11563-11568, 2000.
[0018080]8668.Lopez, F. J.; Merchenthaler, I.; Ching, M.; Wisniewski, M. G.; Negro-Vilar, A.: Galanin: a hypothalamic-hypophysiotropic hormone modulating reproductive functions. Proc. Nat. Acad. Sci. 88: 4508-4512, 1991.
[0018081]8669.Lundkvist, J.; Land, T.; Kahl, U.; Bedecs, K.; Bartfai, T.: cDNA sequence, ligand binding, and regulation of galanin/GMAP in mouse brain. Neurosci. Lett. 200: 121-124, 1995.
[0018082]8670.O'Meara, G.; Coumis, U.; Ma, S. Y.; Kehr, J.; Mahoney, S.; Bacon, A.; Allen, S. J.; Holmes, F.; Kahl, U.; Wang, F. H.; Kearns, I. R.; Ove-Ogren, S.; Dawbarn, D.; Mufson, E. J.; Davies, C.; Dawson, G.; Wynick, D.: Galanin regulates the postnatal survival of a subset of basal forebrain cholinergic neurons. Proc. Nat. Acad. Sci. 97: 11569-11574, 2000.
[0018083]8671.Rattan, S.: Role of galanin in the gut. Gastroenterology 100: 1762-1768, 1991.
[0018084]8672.Schmidt, W. E.; Kratzin, H.; Eckart, K.; Drevs, D.; Mundkowski, G.; Clemens, A.; Katsoulis, S.; Schafer, H.; Gallwitz, B.; Creutzfeldt, W.: Isolation and primary structure of pituitary human galanin, a 30-residue nonamidated neuropeptide. Proc. Nat. Acad. Sci. 88: 11435-11439, 1991.
[0018085]8673.Steiner, R. A.; Hohmann, J. G.; Holmes, A.; Wrenn, C. C.; Cadd, G.; Jureus, A.; Clifton, D. K.; Luo, M.; Gutshall, M.; Ma, S. Y.; Mufson, E. J.; Crawley, J. N.: Galanin transgenic mice display cognitive and neurochemical deficits characteristic of Alzheimer's disease. Proc. Nat. Acad. Sci. 98: 4184-4189, 2001.
[0018086]8674.Wynick, D.; Small, C. J.; Bacon, A.; Holmes, F. E.; Norman, M.; Ormandy, C. J.; Kilic, E.; Kerr, N. C. H.; Ghatei, M.; Talamantes, F.; Bloom, S. R.; Pachnis, V.: Galanin regulates prolactin release and lactotroph proliferation. Proc. Nat. Acad. Sci. 95: 12671-12676, 1998.
[0018087]8675.Appert, H.; Rutherford, T.; Tarr, G.; Wiest, J.; Thomford, N.; McCorquodale, M.; McCorquodale, D. J.: Isolation of a cDNA for human galactosyltransferase. (Abstract) Am. J. Hum. Genet. 39: A186 only, 1986.
[0018088]8676.Appert, H. E.; Rutherford, T. J.; Tarr, G. E.; Wiest, J. S.; Thomford, N. R.; McCorquodale, D. J.: Isolation of a cDNA coding for human galactosyltransferase. Biochem. Biophys. Res. Commun. 139: 163-168, 1986.
[0018089]8677.Asano, M.; Furukawa, K.; Kido, M.; Matsumoto, S.; Umesaki, Y.; Kochibe, N.; Iwakura, Y.: Growth retardation and early death of beta-1,4-galactosyltransferase knockout mice with augmented proliferation and abnormal differentiation of epithelial cells. EMBO J. 16: 1850-1857, 1997.
[0018090]8678.Duncan, A. M. V.; McCorquodale, M. M.; Morgan, C.; Rutherford, T. J.; Appert, H. E.; McCorquodale, D. J.: Chromosomal localization of the gene for a human galactosyltransferase (GT-1). Biochem. Biophys. Res. Commun. 141: 1185-1188, 1986.
[0018091]8679.Furukawa, K.; Roth, S.; Sawicki, J.: Several galactosyltransferase activities are associated with mouse chromosome 17. Genetics 114: 983-991, 1986.
[0018092]8680.Hansske, B.; Thiel, C.; Lubke, T.; Hasilik, M.; Honing, S.; Peters, V.; Heidemann, P. H.; Hoffmann, G. F.; Berger, E. G.; von Figura, K.; Korner, C.: Deficiency of UDP-galactose:Nacetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId. J. Clin. Invest. 109: 725-733, 2002.
[0018093]8681.Kotani, N.; Asano, M.; Iwakura, Y.; Takasaki, S.: Knockout of mouse beta-1,4-galactosyltransferase-1 gene results in a dramatic shift of outer chain moieties of N-glycans from type 2 to type 1 chains in hepatic membrane and plasma glycoproteins. Biochem. J. 357: 827-834, 2001.
[0018094]8682.Lo, N.-W.; Shaper, J. H.; Pevsner, J.; Shaper, N. L.: The expanding beta-4-galactosyltransferase gene family: messages from the databanks. Glycobiology 8: 517-526, 1998.
[0018095]8683.Masri, K. A.; Appert, H. E.; Fukuda, M. N.: Identification of the full-length coding sequence for human galactosyltransferase (beta-N-acetylglucosaminide: beta-1,4-galactosyltransferase). Biochem. Biophys. Res. Commun. 157: 657-663, 1988.
[0018096]8684.Mengle-Gaw, L.; McCoy-Haman, M. F.; Tiemeier, D. C.: Genomic structure and expression of human beta-1,4-galactosyltransferase. Biochem. Biophys. Res. Commun. 176: 1269-1276, 1991.
[0018097]8685.Schnyder-Candrian, S.; Borsig, L.; Moser, R.; Berger, E. G.: Localization of alpha-1,3-fucosyltransferase VI in Weibel-Palade bodies of human endothelial cells. Proc. Nat. Acad. Sci. 97: 8369-8374, 2000.
[0018098]8686.Shaper, N. L.; Shaper, J. H.; Bertness, V.; Chang, H.; Kirsch, I. R.; Hollis, G. F.: The human galactosyltransferase gene is on chromosome 9 at band p13. Somat. Cell Molec. Genet. 12: 633-636, 1986.
[0018099]8687.Shaper, N. L.; Shaper, J. H.; Meuth, J. L.; Fox, J. L.; Chang, H.; Kirsch, I. R.; Hollis, G. F.: Bovine galactosyltransferase: identification of a clone by direct immunological screening of a cDNA expression library. Proc. Nat. Acad. Sci. 83: 1573-1577, 1986.
[0018100]8688.Puech, A.; Saint-Jore, B.; Funke, B.; Gilbert, D. J.; Sirotkin, H.; Copeland, N. G.; Jenkins, N. A.; Kucherlapati, R.; Morrow, B.; Skoultchi, A. I.: Comparative mapping of the human 22q11 chromosomal region and the orthologous region in mice reveals complex changes in gene organization. Proc. Nat. Acad. Sci. 94: 14608-14613, 1997.
[0018101]8689.Janus, C.; Pearson, J.; McLaurin, J.; Mathews, P. M.; Jiang, Y.; Schmidt, S. D.; Chishti, M. A.; Horne, P.; Heslin, D.; French, J.; Mount, H. T. J.; Nixon, R. A.; Mercken, M.; Bergeron, C.; Fraser, P. E.; St George-Hyslop, P.; Westaway, D.: A-beta peptide immunization reduces behavioural impairment and plaques in a model of Alzheimer's disease. Nature 408: 979-982, 2000.
[0018102]8690.Jenkins, E. C.; Devine-Gage, E. A.; Robakis, N. K.; Yao, X.-L.; Brown, W. T.; Houck, G. E., Jr.; Wolfe, G.; Ramakrishna, N.; Silverman, W. P.; Wisniewski, H. M.: Fine mapping of an Alzheimer disease-associated gene encoding beta-amyloid protein. Biochem. Biophys. Res. Commun. 151: 1-8, 1988.
[0018103]8691.Jones, C. T.; Morris, S.; Yates, C. M.; Moffoot, A.; Sharpe, C.; Brock, D. J. H.; St. Clair, D.: Mutation in codon 713 of the beta amyloid precursor protein gene presenting with schizophrenia. Nature Genet. 1: 306-309, 1992.
[0018104]8692.Kamal, A.; Stokin, G. B.; Yang, Z.; Xia, C.-H.; Goldstein, L. S.: Axonal transport of amyloid precursor protein is mediated by direct binding to the kinesin light chain subunit of kinesin-I. Neuron 28: 449-459, 2000.
[0018105]8693.Kamino, K.; Orr, H. T.; Payami, H.; Wijsman, E. M.; Alonso, M. E.; Pulst, S. M.; Anderson, L.; O'dahl, S.; Nemens, E.; White, J. A.; Sadovnick, A. D.; Ball, M. J.; Kaye, J.; Warren, A.; McInnis, M.; Antonarakis, S. E.; Korenberg, J. R.; Sharma, V.; Kukull, W.; Larson, E.; Heston, L. L.; Martin, G. M.; Bird, T. D.; Schellenberg, G. D.: Linkage and mutational analysis of familial Alzheimer disease kindreds for the APP gene region. Am. J. Hum. Genet. 51: 998-1014, 1992.
[0018106]8694.Kaneko, I.; Yamada, N.; Sakuraba, Y.; Kamenosono, M.; Tutumi, S.: Suppression of mitochondrial succinate dehydrogenase, a primary target of beta-amyloid, and its derivative racemized at ser residue. J. Neurochem. 65: 2585-2593, 1995.
[0018107]8695.Karlinsky, H.; Vaula, G.; Haines, J. L.; Ridgley, J.; Bergeron, C.; Mortilla, M.; Tupler, R. G.; Percy, M. E.; Robitaille, Y.; Noldy, N. E.; Yip, T. C. K.; Tanzi, R. E.; Gusella, J. F.; Becker, R.; Berg, J. M.; Crapper McLachlan, D. R.; St. George-Hyslop, P. H.: Molecular and prospective phenotypic characterization of a pedigree with familial Alzheimer's disease and a missense mutation in codon 717 of the beta-amyloid precursor protein gene. Neurology 42: 1445-1453, 1992.
[0018108]8696.Korenberg, J. R.; Pulst, S.-M.; Neve, R. L.; West, R.: The Alzheimer amyloid precursor protein maps to human chromosome 21 bands q21.105-q21.05. Genomics 5: 124-127, 1989.
[0018109]8697.Kumar-Singh, S.; De Jonghe, C.; Cruts, M.; Kleinert, R.; Wang, R.; Mercken, M.; De Strooper, B.; Vanderstichele, H.; Lofgren, A.; Vanderhoeven, I.; Backhovens, H.; Vanmechelen, E.; Kroisel, P. M.; Van Broeckhoven, C.: Nonfibrillar diffuse amyloid deposition due to a gamma-42-secretase site mutation points to an essential role for N-truncated A-beta-42 in Alzheimer's disease. Hum. Molec. Genet. 9: 2589-2598, 2000.
[0018110]8698.Lashuel, H. A.; Hartley, D.; Petre, B. M.; Walz, T.; Lansbury, P. T., Jr.: Amyloid pores from pathogenic mutations. Nature 418: 291 only, 2002.
[0018111]8699.Levy, E.; Carman, M. D.; Fernandez-Madrid, I. J.; Power, M. D.; Lieberburg, I.; van Duinen, S. G.; Bots, G. T. A. M.; Luyendijk, W.; Frangione, B.: Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type. Science 248: 1124-1126, 1990.
[0018112]8700.Lewis, J.; Dickson, D. W.; Lin, W.-L.; Chisholm, L.; Corral, A.; Jones, G.; Yen, S.-H.; Sahara, N.; Skipper, L.; Yager, D.; Eckman, C.; Hardy, J.; Hutton, M.; McGowan, E.: Enhanced neurofibrillary degeneration in transgenic mice expressing mutant tau and APP. Science 293: 1487-1491, 2001.
[0018113]8701.Lorenzo, A.; Yuan, M.; Zhang, Z.; Paganetti, P. A.; Sturchler-Pierrat, C.; Staufenbiel, M.; Mautino, J.; Vigo, F. S.; Sommer, B.; Yankner, B. A.: Amyloid beta interacts with the amyloid precursor protein: a potential toxic mechanism in Alzheimer's disease. Nature Neurosci. 3: 460-464, 2000.
[0018114]8702.Lovett, M.; Goldgaber, D.; Ashley, P.; Cox, D. R.; Gajdusek, D. C.; Epstein, C. J.: The mouse homolog of the human amyloid beta protein (AD-AP) gene is located on the distal end of mouse chromosome 16: further extension of the homology between human chromosome 21 and mouse chromosome 16. Biochem. Biophys. Res. Commun. 144: 1069-1075, 1987.
[0018115]8703.Luyendijk, W.; Bots, G. T. A. M.: Hereditary cerebral haemorrhage.(Letter) Scand. J. Clin. Lab. Invest. 46: 391 only, 1986.
[0018116]8704.Luyendijk, W.; Bots, G. T. A. M.; Vegter-van der Vlis, M.; Went, L. N.; Frangione, B.: Hereditary cerebral haemorrhage caused by cortical amyloid angiopathy. J. Neurol. Sci. 85: 267-280, 1988.
[0018117]8705.Majocha, R. E.; Benes, F. M.; Reifel, J. L.; Rodenrys, A. M.; Marotta, C. A.: Laminarspecific distribution and infrastructural detail of amyloid in the Alzheimer disease cortex visualized by computer-enhanced imaging of epitopes recognized by monoclonal antibodies. Proc. Nat. Acad. Sci. 85: 6182-6186, 1988.
[0018118]8706.Mant, R.; Asherson, P.; Gill, M.; McGuffin, P.; Owen, M.: Schizophrenia scepticism.(Letter) Nature Genet. 2: 12 only, 1992.
[0018119]8707.Maruyama, K.; Tomita, T.; Shinozaki, K.; Kume, H.; Asada, H.; Saido, T. C.; Ishiura, S.; Iwatsubo, T.; Obata, K.: Familial Alzheimer's disease-linked mutations at val717 of amyloid precursor protein are specific for the increased secretion of A-beta-42(43). Biochem. Biophys. Res. Commun. 227: 730-735, 1996.
[0018120]8708.Masters, C. L.; Simms, G.; Weinman, N. A.; Multhaup, G.; McDonald, B. L.; Beyreuther, K.: Amyloid plaque core protein in Alzheimer disease and Down syndrome. Proc. Nat. Acad. Sci. 82: 4245-4249, 1985.
[0018121]8709.Meziane, H.; Dodart, J.-C.; Mathis, C.; Little, S.; Clemens, J.; Paul, S. M.; Ungerer, A.: Memory-enhancing effects of secreted forms of the beta-amyloid precursor protein in normal and amnestic mice. Proc. Nat. Acad. Sci. 95: 12683-12688, 1998.
[0018122]8710.Miravalle, L.; Tokuda, T.; Chiarle, R.; Giaccone, G.; Bugiani, O.; Tagliavini, F.; Frangione, B.; Ghiso, J.: Substitutions at codon 22 of Alzheimer's A-beta peptide induce diverse conformational changes and apoptotic effects in human cerebral endothelial cells. J. Biol. Chem. 275: 27110-27116, 2000.
[0018123]8711.Denker, S. P.; Huang, D. C.; Orlowski, J.; Furthmayr, H.; Barber, D. L.: Direct binding of the Na-H exchanger NHE1 to ERM proteins regulates the cortical cytoskeleton and cell shape independently of H(+) translocation. Molec. Cell 6: 1425-1436, 2000.
[0018124]8712.Dudley, C. R. K.; Giuffra, L. A.; Tippett, P.; Kidd, K. K.; Reeders, S. T.: The Na+/H+ antiporter: a 'melt' polymorphism allows regional mapping to the short arm of chromosome 1. Hum. Genet. 86: 79-83, 1990.
[0018125]8713.Franchi, A.; Perucca-Lostanlen, D.; Pouyssegur, J.: Functional expression of a human Na+/H+ antiporter gene transfected into antiporter-deficient mouse L cells. Proc. Nat. Acad. Sci. 83: 9388-9392, 1986.
[0018126]8714.Lifton, R. P.; Sardet, C.; Pouyssegur, J.; Lalouel, J.-M.: Cloning of the human genomic amiloride-sensitive Na+/H+ antiporter gene, identification of genetic polymorphisms, and localization on the genetic map of chromosome 1p. Genomics 7: 131-135, 1990.
[0018127]8715.Mattei, M.-G.; Galloni, M.; Sardet, C.; Franchi, A.; Counillon, L.; Passage, E.; Pouyssegur, J.: Localization of the antiporter gene (APNH) and chromosomal homology between human 1p, mouse 4 and Chinese hamster 2q. (Abstract) Cytogenet. Cell Genet. 51: 1041, 1989.
[0018128]8716.Mattei, M.-G.; Sardet, C.; Franchi, A.; Pouyssegur, J.: Chromosomal mapping of the amiloride-sensitive Na+/H+ antiporter gene. (Abstract) Cytogenet. Cell Genet. 46: 658-659, 1987.
[0018129]8717.Mattei, M.-G.; Sardet, C.; Franchi, A.; Pouyssegur, J.: The human amiloride-sensitive Na+/H+ antiporter: localization to chromosome 1 by in situ hybridization. Cytogenet. Cell Genet. 48: 6-8, 1988.
[0018130]8718.Mendoza, S. A.: The Na+/H+ antiport is a mediator of cell proliferation. Acta Paediat. Scand. 76: 545-547, 1987.
[0018131]8719.Morahan, G.; Rakar, S.: Localization of the mouse Na+/H+ exchanger gene on distal chromosome 4. Genomics 15: 231-232, 1993.
[0018132]8720.Sardet, C.; Franchi, A.; Pouyssegur, J.: Molecular cloning, primary structure, and expression of the human growth factor-activatable Na(+)/H(+) antiporter. Cell 56: 271-280, 1989.
[0018133]8721.Kitawaki, J.; Koshiba, H.; Ishihara, H.; Kusuki, I.; Tsukamoto, K.; Honjo, H.: Progesterone induction of 17-beta-hydroxysteroid dehydrogenase type 2 during the secretory phase occurs in the endometrium of estrogen-dependent benign diseases but not in normal endometrium. J. Clin. Endocr. Metab. 85: 3292-3296, 2000.
[0018134]8722.Suzuki, T.; Sasano, H.; Andersson, S.; Mason, J. I.: 3-beta-hydroxysteroid dehydrogenase/delta(5-4)-isomerase activity associated with the human 17-beta-hydroxysteroid dehydrogenase type 2 isoform. J. Clin. Endocr. Metab. 85: 3669-3672, 2000.
[0018135]8723.Wu, L.; Einstein, M.; Geissler, W. M.; Chan, H. K.; Elliston, K. O.; Andersson, S.: Expression cloning and characterization of human 17-beta-hydroxysteroid dehydrogenase type 2, a microsomal enzyme possessing 20-alpha-hydroxysteroid dehydrogenase activity. J. Biol. Chem. 268: 12964-12969, 1993.
[0018136]8724.Davare, M. A.; Avdonin, V.; Hall, D. D.; Peden, E. M.; Burette, A.; Weinberg, R. J.; Horne, M. C.; Hoshi, T.; Hell, J. W.: A beta-2 adrenergic receptor signaling complex assembled with the Ca(2+) channel Ca(V)1.2. Science 293: 98-101, 2001.
[0018137]8725.Jacobs, P. A.; Brunton, M.; Frackiewicz, A.; Newton, M.; Cook, P. J. L.; Robson, E. B.: Studies on a family with three cytogenetic markers. Ann. Hum. Genet. 33: 325-336, 1970.
[0018138]8726.Brown, A.; Bernier, G.; Mathieu, M.; Rossant, J.; Kothary, R.: The mouse dystonia musculorum gene is a neural isoform of bullous pemphigoid antigen 1. Nature Genet. 10: 301-306, 1995.
[0018139]8727.Brown, A.; Dalpe, G.; Mathieu, M.; Kothary, R.: Cloning and characterization of the neural isoforms of human dystonin. Genomics 29: 777-780, 1995.
[0018140]8728.Copeland, N. G.; Gilbert, D. J.; Li, K.; Sawamura, D.; Giudice, G. J.; Chu, M.-L.; Jenkins, N. A.; Uitto, J.: Chromosomal localization of mouse bullous pemphigoid antigens, BPAG1 and BPAG2: identification of a new region of homology between mouse and human chromosomes. Genomics 15: 180-181, 1993.
[0018141]8729.Diaz, L. A.; Ratrie, H., III; Saunders, W. S.; Futamura, S.; Squiquera, H. L.; Anhalt, G. J.; Giudice, G. J.: Isolation of a human epidermal cDNA corresponding to the 180-kD autoantigen recognized by bullous pemphigoid and herpes gestationis sera: immunolocalization of this protein to the hemidesmosome. J. Clin. Invest. 86: 1088-1094, 1990.
[0018142]8730.Guo, L.; Degenstein, L.; Dowling, J.; Yu, Q.-C.; Wollmann, R.; Perman, B.; Fuchs, E.: Gene targeting of BPAG1: abnormalities in mechanical strength and cell migration in stratified epithelia and neurologic degeneration. Cell 81: 233-243, 1995.
[0018143]8731.Minoshima, S.; Amagai, M.; Kudoh, J.; Fukuyama, R.; Hashimoto, T.; Nishikawa, T.; Shimizu, N.: Localization of the human gene for 230-kDa bullous pemphigoid autoantigen to the pter-q15 region of chromosome 6. (Abstract) Cytogenet. Cell Genet. 58: 1914-1915, 1991.
[0018144]8732.Minoshima, S.; Amagai, M.; Kudoh, J.; Fukuyama, R.; Hashimoto, T.; Nishikawa, T.; Shimizu, N.: Localization of the human gene for 230-kDal bullous pemphigoid autoantigen (BPAG1) to chromosome 6pter-q15. Cytogenet. Cell Genet. 57: 30-32, 1991.
[0018145]8733.Ryynanen, M.; Knowlton, R. G.; Kero, M.; Sawamura, D.; Li, K.; Giudice, G. J.; Diaz, L. A.; Uitto, J.: Bullous pemphigoid antigens (BPAGs): identification of RFLPs in human BPAG1 and BPAG2, and exclusion as candidate genes in a large kindred with dominant epidermolysis bullosa simplex. Genomics 11: 1025-1029, 1991.
[0018146]8734.Sawamura, D.; Nomura, K.; Sugita, Y.; Mattei, M.-G.; Chu, M.-L.; Knowlton, R.; Uitto, J.: Bullous pemphigoid antigen (BPAG1): cDNA cloning and mapping of the gene to the short arm of human chromosome 6. Genomics 8: 722-726, 1990.
[0018147]8735.Stanley, J. R.; Tanaka, T.; Mueller, S.; Klaus-Kovtun, V.; Roop, D.: Isolation of complementary DNA for bullous pemphigoid antigen by use of patients' autoantibodies. J. Clin. Invest. 82: 1864-1870, 1988.
[0018148]8736.Tamai, K.; Sawamura, D.; Do, H. C.; Tamai, Y.; Li, K.; Uitto, J.: The human 230-kD bullous pemphigoid antigen gene (BPAG1): exon-intron organization and identification of regulatory tissue specific elements in the promoter region. J. Clin. Invest. 92: 814-822, 1993.
[0018149]8737.Yang, Y.; Bauer, C.; Strasser, G.; Wollman, R.; Julien, J.-P.; Fuchs, E.: Integrators of the cytoskeleton that stabilize microtubules. Cell 98: 229-238, 1999.
[0018150]8738.Chavanas, S.; Gache, Y.; Tadini, G.; Pulkkinen, L.; Uitto, J.; Ortonne, J. P.; Meneguzzi, G.: A homozygous in-frame deletion in the collagenous domain of bullous pemphigoid antigen BP180 (type XVII collagen) causes generalized atrophic benign epidermolysis bullosa. J. Invest. Derm. 109: 74-78, 1997.
[0018151]8739.Darling, T. N.; Koh, B. B.; Bale, S. J.; Compton, J. G.; Bauer, J. W.; Hintner, H.; Yancey, K. B.: A deletion mutation in COL17A1 in five Austrian families with generalized atrophic benign epidermolysis bullosa represents propagation of an ancestral allele. J. Invest. Derm. 110: 170-173, 1998.
[0018152]8740.Darling, T. N.; Yee, C.; Koh, B.; McGrath, J. A.; Bauer, J. W.; Uitto, J.; Hintner, H.; Yancey, K. B.: Cycloheximide facilitates the identification of aberrant transcripts resulting from a novel splice-site mutation in COL17A1 in a patient with generalized atrophic benign epidermolysis bullosa. J. Invest. Derm. 110: 165-169, 1998.
[0018153]8741.Floeth, M.; Fiedorowicz, J.; Schacke, H.; Hammami-Hauasli, N.; Owaribe, K.; Trueb, R. M.; Bruckner-Tuderman, L.: Novel homozygous and compound heterozygous COL17A1 mutations associated with junctional epidermolysis bullosa. J. Invest. Derm. 111: 528-533, 1998.
[0018154]8742.Montgomery, J. C.; Shows, T. B.; Venta, P. J.; Tashian, R. E.: Gene for novel human carbonic anhydrase (CA) isozyme on chromosome 16 is unlinked to the CA1/CA2/CA3 gene cluster. (Abstract) Am. J. Hum. Genet. 41: A229 only, 1987.
[0018155]8743.Montgomery, J. C.; Venta, P. J.; Eddy, R. L.; Fukushima, Y.-S.; Shows, T. B.; Tashian, R. E.: Characterization of the human gene for a newly discovered carbonic anhydrase, CA VII, and its localization to chromosome 16. Genomics 11: 835-848, 1991.
[0018156]8744.Venta, P. J.; Montgomery, J. C.; Tashian, R. E.: Molecular genetics of carbonic anhydrase isozymes. Isozymes: Curr. Top. Biol. Med. Res. 14: 59-72, 1987.
[0018157]8745.Aldred, P.; Fu, P.; Barrett, G.; Penschow, J. D.; Wright, R. D.; Coghlan, J. P.; Fernley, R. T.: Human secreted carbonic anhydrase: cDNA cloning, nucleotide sequence, and hybridization histochemistry. Biochemistry 30: 569-575, 1991.
[0018158]8746.Karhumaa, P.; Leinonen, J.; Parkkila, S.; Kaunisto, K.; Tapanainen, J.; Rajaniemi, H.: The identification of secreted carbonic anhydrase VI as a constitutive glycoprotein of human and rat milk. Proc. Nat. Acad. Sci. 98: 11604-11608, 2001.
[0018159]8747.Murakami, H.; Sly, W. S.: Purification and characterization of human salivary carbonic anhydrase. J. Biol. Chem. 262: 1382-1388, 1987.
[0018160]8748.Sutherland, G. R.; Baker, E.; Fernandez, K. E. W.; Callen, D. F.; Aldred, P.; Coghlan, J. P.; Wright, R. D.; Fernley, R. T.: The gene for human carbonic anhydrase VI (CA6) is on the tip of the short arm of chromosome 1. Cytogenet. Cell Genet. 50: 149-150, 1989.
[0018161]8749.Thatcher, B. J.; Doherty, A. E.; Orvisky, E.; Martin, B. M.; Henkin, R. I.: Gustin from human parotid saliva is carbonic anhydrase VI. Biochem. Biophys. Res. Commun. 250: 635-641, 1998.
[0018162]8750.Chauhan, S. S.; Popescu, N. C.; Ray, D.; Fleischmann, R.; Gottesman, M. M.; Troen, B. R.: Cloning, genomic organization, and chromosomal localization of human cathepsin L. J. Biol. Chem. 268: 1039-1045, 1993.
[0018163]8751.Fan, Y.-S.; Byers, M. G.; Eddy, R. L.; Joseph, L.; Sukhatme, V.; Chan, S.-J.; Shows, T. B.: Cathepsin L (CTSL) is located in the chromosome 9q21-q22 region: a related sequence is located on chromosome 10. (Abstract) Cytogenet. Cell Genet. 51: 996 only, 1989.
[0018164]8752.Gal, S.; Gottesman, M. M.: Isolation and sequence of a cDNA for human pro-(cathepsin L). Biochem. J. 253: 303-306, 1988.
[0018165]8753.Joseph, L. J.; Chang, L. C.; Stamenkovich, D.; Sukhatme, V. P. : Complete nucleotide and deduced amino acid sequences of human and murine preprocathepsin L: an abundant transcript induced by transformation of fibroblasts. J. Clin. Invest. 81: 1621-1629, 1988.
[0018166]8754.Stypmann, J.; Glaser, K.; Roth, W.; Tobin, D. J.; Petermann, I.; Matthias, R.; Monnig, G.; Haverkamp, W.; Breithardt, G.; Schmahl, W.; Peters, C.; Reinheckel, T.: Dilated cardiomyopathy in mice deficient for the lysosomal cysteine peptidase cathepsin L. Proc. Nat. Acad. Sci. 99: 6234-6239, 2002.
[0018167]8755.Kere, J.; Ruutu, T.; Davies, K. A.; Roninson, I. B.; Watkins, P. C.; Winqvist, R.; de la Chapelle, A.: Chromosome 7 long arm deletion in myeloid disorders: a narrow breakpoint region in 7q22 defined by molecular mapping. Blood 73: 230-234, 1989.
[0018168]8756.Neufeld, E. J.: Personal Communication. Boston, Mass. 2/21/1995.
[0018169]8757.Neufeld, E. J.; Skalnik, D. G.; Lievens, P. M.-J.; Orkin, S. H. : Human CCAAT displacement protein is homologous to the Drosophila homeoprotein, cut. Nature Genet. 1: 50-55, 1992.
[0018170]8758.Scherer, S. W.; Neufeld, E. J.; Lievens, P. M.-J.; Orkin, S. H.; Kim, J.; Tsui, L.-C.: Regional localization of the CCAAT displacement protein gene (CUTL1) to 7q22 by analysis of somatic cell hybrids. Genomics 15: 695-696, 1993.
[0018171]8759.Snyder, S. R.; Wang, J.; Waring, J. F.; Ginder, G. D.: Identification of CCAAT displacement protein (CDP/cut) as a locus-specific repressor of major histocompatibility complex gene expression in human tumor cells. J. Biol. Chem. 276: 5323-5330, 2001.
[0018172]8760.Zeng, W. R.; Scherer, S. W.; Koutsilieris, M.; Huizenga, J. J.; Filteau, F.; Tsui, L.-C.; Nepveu, A.: Loss of heterozygosity and reduced expression of the CUTL1 gene in uterine leiomyomas. Oncogene 14: 2355-2365, 1997.
[0018173]8761.Birkenmeier, E. H.; Gwynn, B.; Howard, S.; Jerry, J.; Gordon, J. I.; Landschulz, W. H.; McKnight, S. L.: Tissue-specific expression, developmental regulation, and genetic mapping of the gene encoding CCAAT/enhancer binding protein. Genes Dev. 3: 1146-1156, 1989.
[0018174]8762.Flodby, P.; Barlow, C.; Kylefjord, H.; Ahrlund-Richter, L.; Xanthopoulos, K. G.: Increased hepatic cell proliferation and lung abnormalities in mice deficient in CCAAT/enhancer binding protein alpha. J. Biol. Chem. 271: 24753-24760, 1996.
[0018175]8763.Landschulz, W. H.; Johnson, P. F.; McKnight, S. L.: The DNA binding domain of the rat liver nuclear protein C/EBP is bipartite. Science 243: 1681-1688, 1989.
[0018176]8764.Blackburn, M. R.; Datta, S. K.; Kellems, R. E.: Adenosine deaminase-deficient mice generated using a two-stage genetic engineering strategy exhibit a combined immunodeficiency. J. Biol. Chem. 273: 5093-5100, 1998.
[0018177]8765.Blaese, R. M.; Culver, K. W.; Miller, A. D.; Carter, C. S.; Fleisher, T.; Clerici, M.; Shearer, G.; Chang, L., Chiang, Y.; Tolstoshev, P.; Greenblatt, J. J.; Rosenberg, S. A.; Klein, H.; Berger, M.; Mullen, C. A.; Ramsey, W. J.; Muul, L.; Morgan, R. A.; Anderson, W. F.: T lymphocyte-directed gene therapy for ADA-SCID: initial trial results after 4 years. Science 270: 475-480, 1995.
[0018178]8766.Bollinger, M. E.; Arredondo-Vega, F. X.; Santisteban, I.; Schwarz, K.; Hershfield, M. S.; Lederman, H. M.: Hepatic dysfunction as a complication of adenosine deaminase deficiency. New Eng. J. Med. 334: 1367-1371, 1996.
[0018179]8767.Bonthron, D. T.; Markham, A. F.; Ginsburg, D.; Orkin, S. H.: Identification of a point mutation in the adenosine deaminase gene responsible for immunodeficiency. J. Clin. Invest. 76: 894-897, 1985.
[0018180]8768.Bordignon, C.; Notarangelo, L. D.; Nobili, N.; Ferrari, G.; Casorati, G.; Panina, P.; Mazzolari, E.; Maggioni, D.; Rossi, C.; Servida, P.; Ugazio, A. G.; Mavilio, F.: Gene therapy in peripheral blood lymphocytes and bone marrow for ADA: immunodeficient patients. Science 270: 470-475, 1995.
[0018181]8769.Bortin, M. M.; Rimm, A. A. (eds.): Severe combined immunodeficiency disease: characterization of the disease and results of transplantation. J.A.M.A. 238: 591-600, 1977.
[0018182]8770.Boss, G. R.; Thompson, L. F.; O'Connor, R. D.; Ziering, R. W.; Seegmiller, J. E.: Ecto-5-prime-nucleotidase deficiency: association with adenosine deaminase deficiency and nonassociation with deoxyadenosine toxicity. Clin. Immun. Immunopath. 19: 1-7, 1981.
[0018183]8771.Bottini, N.; De Luca, D.; Saccucci, P.; Fiumara, A.; Elia, M.; Porfirio, M. C.; Lucarelli, P.; Curatolo, P.: Autism: evidence of association with adenosine deaminase genetic polymorphism. Neurogenetics 3: 111-113, 2001.
[0018184]8772.Chen, S.-H.; Ochs, H. D.; Scott, C. R.: Adenosine deaminase deficiency: disappearance of adenine deoxynucleotides from a patient's erythrocytes after successful marrow transplantation. J. Clin. Invest. 62: 1386-1389, 1978.
[0018185]8773.Chen, S.-H.; Ochs, H. D.; Scott, C. R.; Giblett, E. R.: Adenosine deaminase and nucleoside phosphorylase activity in patients with immunodeficiency syndromes. Clin. Immun. Immunopath. 13: 156-160, 1979.
[0018186]8774.Chen, S.-H.; Scott, C. R.; Giblett, E. R.: Adenosine deaminase: demonstration of a 'silent' gene associated with combined immunodeficiency disease. Am. J. Hum. Genet. 26: 103-107, 1974.
[0018187]8775.Cohen, A.; Hirschhorn, R.; Horowitz, S. D.; Rubinstein, A.; Polmar, S. H.; Hong, R.; Martin, D. W., Jr.: Deoxyadenosine triphosphate as a potentially toxic metabolite in adenosine deaminase deficiency. Proc. Nat. Acad. Sci. 75: 472-476, 1978.
[0018188]8776.Cook, P. J. L.; Hopkinson, D. A.; Robson, E. B.: The linkage relationships of adenosine deaminase. Ann. Hum. Genet. 34: 187-188, 1970.
[0018189]8777.Creagan, R. P.; Tischfield, J. A.; Nichols, E. A.; Ruddle, F. H.: Autosomal assignment of the gene for the form of adenosine deaminase which is deficient in patients with combined immunodeficiency syndrome. (Letter) Lancet II: 1449 only, 1973.
[0018190]8778.Culver, K. W.: Gene Therapy: A Primer for Physicians. Larchmont, New York: Mary Ann Liebert, Inc. , 1996.
[0018191]8779.Daddona, P. E.; Kelley, W. N.: Human adenosine deaminase: stoichiometry of the adenosine deaminase-binding protein complex. Biochim. Biophys. Acta 580: 302-311, 1979.
[0018192]8780.Daddona, P. E.; Mitchell, B. S.; Meuwissen, H. J.; Davidson, B. L.; Wilson, J. M.; Koller, C. A.: Adenosine deaminase deficiency with normal immune function: an acidic enzyme mutation. J. Clin. Invest. 72: 483-492, 1983.
[0018193]8781.Detter, J. C.; Stamatoyannopoulos, G.; Giblett, E. R.; Motulsky, A. G.: Adenosine deaminase: racial distribution and report of a new phenotype. J. Med. Genet. 7: 356-357, 1970.
[0018194]8782.Dissing, J.; Knudsen, B.: Adenosine-deaminase deficiency and combined immunodeficiency syndrome. (Letter) Lancet II: 1316, 1972.
[0018195]8783.Dissing, J.; Knudsen, J. B.: A new red cell adenosine deaminase phenotype in man. Hum. Hered. 19: 375-377, 1969.
[0018196]8784.Dyminski, J. W.; Daoud, A.; Lampkin, B. C.; Limouze, S.; Donofrio, J.; Coleman, M. S.; Hutton, J. J.: Immunological and biochemical profiles in response to transfusion therapy in adenosine deaminase-deficient patient with severe combined immunodeficiency disease. Clin. Immun. Immunopath. 14: 307-326, 1979.
[0018197]8785.Egashira, M.; Ariga, T.; Kawamura, N.; Miyoshi, O.; Niikawa, N.; Sakiyama, Y.: Visible integration of the adenosine deaminase (ADA) gene into the recipient genome after gene therapy. Am. J. Med. Genet. 75: 314-317, 1998.
[0018198]8786.Ellis, N. A.; Lennon, D. J.; Proytcheva, M.; Alhadeff, B.; Henderson, E. E.; German, J.: Somatic intragenic recombination within the mutated locus BLM can correct the high SCE phenotype of Bloom syndrome cells. Am. J. Hum. Genet. 57: 1019-1027, 1995.
[0018199]8787.Ferrari, G.; Rossini, S.; Giavazzi, R.; Maggioni, D.; Nobili, N.; Soldati, M.; Ungers, G.; Mavilio, F.; Gilboa, E.; Bordignon, C. : An in vivo model of somatic cell gene therapy for human severe combined immunodeficiency. Science 251: 1363-1366, 1991.
[0018200]8788.Giblett, E. R.; Anderson, J. E.; Cohen, F.; Pollara, B.; Meuwissen, H. J.: Adenosinedeaminase deficiency in two patients with severely impaired cellular immunity. Lancet I: 1067-1069, 1972.
[0018201]8789.Hart, S. L.; Lane, A. B.; Jenkins, T.: Partial adenosine deaminase deficiency: another family from southern Africa. Hum. Genet. 74: 307-312, 1986.
[0018202]8790.Herbschleb-Voogt, E.; Scholten, J.-W.; Meera Khan, P.: Basic defect in the expression of adenosine deaminase in ADA SCID disease. II. Deficiency of ADA-CRM detected in heterozygote human-Chinese hamster cell hybrids. Hum. Genet. 63: 121-125, 1983.
[0018203]8791.Hershfield, M. S.: PEG-ADA: an alternative to haploidentical bone marrow transplantation and an adjunct to gene therapy for adenosine deaminase deficiency. Hum. Mutat. 5: 107-112, 1995.
[0018204]8792.Hershfield, M. S.; Buckley, R. H.; Greenberg, M. L.; Melton, A. L.; Schiff, R.; Hatem, C.; Kurtzberg, J.; Markert, M. L.; Kobayashi, R. H.; Kobayashi, A. L.; Abuchowski, A.: Treatment of adenosine deaminase deficiency with polyethylene glycol-modified adenosine deaminase. New Eng. J. Med. 316: 589-596, 1987.
[0018205]8793.Hershfield, M. S.; Kredich, N. M.: S-adenosylhomocysteine hydrolase is an adenosinebinding protein: a target for adenosine toxicity. Science 202: 757-760, 1978.
[0018206]8794.Presley, J. F.; Ward, T. H.; Pfeifer, A. C.; Siggia, E. D.; Phair, R. D.; Lippincott-Schwartz, J.: Dissection of COPI and Arf1 dynamics in vivo and role in Golgi membrane transport. Nature 417: 187-193, 2002.
[0018207]8795.Tsai, S.-C.; Haun, R. S.; Tsuchiya, M.; Moss, J.; Vaughan, M.: Isolation and characterization of the human gene for ADP-ribosylation factor 3, a 20-kDa guanine nucleotide-binding protein activator of cholera toxin. J. Biol. Chem. 266: 23053-23059, 1991.
[0018208]8796.Lachman, H. M.; Papolos, D. F.; Saito, T.; Yu, Y. M.; Szumlanski, C. L.; Weinshilboum, R. M.: Human catechol-O-methyltransferase pharmacogenetics: description of a functional polymorphism and its potential application to neuropsychiatric disorders. Pharmacogenetics 6: 243-250, 1996.
[0018209]8797.Tiihonen, J.; Hallikainen, T.; Lachman, H.; Saito, T.; Volavka, J.; Kauhanen, J.; Salonen, J. T.; Ryynanen, O.-P.; Koulu, M.; Karvonen, M. K.; Pohjalainen, T.; Syvalahti, E.; Hietala, J.: Association between the functional variant of the catechol-O-methyltransferase (COMT) gene and type 1 alcoholism. Molec. Psychiat. 4: 286-289, 1999.
[0018210]8798.Alder, A.: Ueber konstitutionell bedingte Granulationsveraenderungen der Leukocyten. Dtsch. Arch. Klin. Med. 183: 372-378, 1939.
[0018211]8799.Bohren, K. M.; Bullock, B.; Wermuth, B.; Gabbay, K. H.: The aldo-keto reductase superfamily: cDNAs and deduced amino acid sequences of human aldehyde and aldose reductases. J. Biol. Chem. 264: 9547-9551, 1989.
[0018212]8800.Charlesworth, D.: Starch-gel electrophoresis of four enzymes from human red blood cells: glyceraldehyde-3-phosphate dehydrogenase, fructoaldolase, glyoxalase II and sorbitol dehydrogenase. Ann. Hum. Genet. 35: 477-484, 1972.
[0018213]8801.Frade, R.; Balbo, M.; Barel, M.: RB18A, whose gene is localized on chromosome 17q12-q21.1, regulates in vivo p53 transactivating activity. Cancer Res. 60: 6585-6589, 2000.
[0018214]8802.Wolffe, A. P.: Transcriptional control: sinful repression. Nature 387: 16-17, 1997.
[0018215]8803.Wu, L.; Aster, J. C.; Blacklow, S. C.; Lake, R.; Artavanis-Tsakonas, S.; Griffin, J. D.: MAML1, a human homologue of Drosophila mastermind, is a transcriptional co-activator for NOTCH receptors. Nature Genet. 26: 484-489, 2000.
[0018216]8804.Inohara, N.; Koseki, T.; del Peso, L.; Hu, Y.; Yee, C.; Chen, S.; Carrio, R.; Merino, J.; Liu, D.; Ni, J.; Nunez, G.: Nod1, an Apaf-1-like activator of caspase-9 and nuclear factor-kappa-B. J. Biol. Chem. 274: 14560-14567, 1999.
[0018217]8805.Weng, Z.; Fluckiger, A.-C.; Nisitani, S.; Wahl, M. I.; Le, L. Q.; Hunter, C. A.; Fernal, A. A.; le Beau, M. M.; Witte, O. N.: A DNA damage and stress inducible G protein-coupled receptor blocks cells in G2/M. Proc. Nat. Acad. Sci. 95: 12334-12339, 1998.
[0018218]8806.Charroux, B.; Pellizzoni, L.; Perkinson, R. A.; Shevchenko, A.; Mann, M.; Dreyfuss, G.: Gemin3: a novel DEAD box protein that interacts with SMN, the spinal muscular atrophy gene product, and is a component of gems. J. Cell Biol. 147: 1181-1193, 1999.
[0018219]8807.Grundhoff, A. T.; Kremmer, E.; Tureci, O.; Glieden, A.; Gindorf, C.; Atz, J.; Mueller-Lantzsch, N.; Schubach, W. H.; Grasser, F. A. : Characterization of DP103, a novel DEAD box protein that binds to the Epstein-Barr virus nuclear proteins EBNA2 and EBNA3C. J. Biol. Chem. 274: 19136-19144, 1999.
[0018220]8808.Hunt, S. L.; Hsuan, J. J.; Totty, N.; Jackson, R. J.: unr, a cellular cytoplasmic RNAbinding protein with five cold-shock domains, is required for internal initiation of translation of human rhinovirus RNA. Genes Dev. 13: 437-448, 1999.
[0018221]8809.Matsuda, S.; Katsumata, R.; Okuda, T.; Yamamoto, T.; Miyazaki, K.; Senga, T.; Machida, K.; Thant, A. A.; Nakatsugawa, S.; Hamaguchi, M.: Molecular cloning and characterization of human MAWD, a novel protein containing WD-40 repeats frequently overexpressed in breast cancer. Cancer Res. 60: 13-17, 2000.
[0018222]8810.Pasteris, N. G.; Trask, B. J.; Sheldon, S.; Gorski, J. L.: Discordant phenotype of two overlapping deletions involving the PAX3 gene in chromosome 2q35. Hum. Molec. Genet. 2: 953-959, 1993.
[0018223]8811.Beeson, D.; Brydson, M.; Betty, M.; Jeremiah, S.; Povey, S.; Vincent, A.; Newsom-Davis, J.: Primary structure of the human muscle acetylcholine receptor cDNA cloning of the gamma and epsilon subunits. Europ. J. Biochem. 215: 229-238, 1993.
[0018224]8812.Ohno, K.; Hutchinson, D. O.; Milone, M.; Brengman, J. M.; Bouzat, C.; Sine, S. M.; Engel, A. G.: Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit. Proc. Nat. Acad. Sci. 92: 758-762, 1995.
[0018225]8813.Ohno, K.; Quiram, P. A.; Milone, M.; Wang, H.-L.; Harper, M. C.; Pruitt, J. N., II; Brengman, J. M.; Pao, L.; Fischbeck, K. H.; Crawford, T. O.; Sine, S. M.; Engel, A. G.: Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations. Hum. Molec. Genet. 6: 753-766, 1997.
[0018226]8814.Ohno, K.; Wang, H.-L.; Milone, M.; Bren, N.; Brengman, J. M.; Nakano, S.; Quiram, P.; Pruitt, J. N.; Sine, S. M.; Engel, A. G.: Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit. Neuron 17: 157-170, 1996.
[0018227]8815.Sieb, J. P.; Dorfler, P.; Tzartos, S.; Wewer, U. M.; Ruegg, M. A.; Meyer, D.; Baumann, I.; Lindemuth, R.; Jakschik, J.; Ries, F. : Congenital myasthenic syndromes in two kinships with endplate acetylcholine receptor and utrophin deficiency. Neurology 50: 54-61, 1998.
[0018228]8816.Sieb, J. P.; Kraner, S.; Rauch, M.; Steinlein, O. K.: Immature end-plates and utrophin deficiency in congenital myasthenic syndrome caused by epsilon-AChR subunit truncating mutations. Hum. Genet. 107: 160-164, 2000.
[0018229]8817.Witzemann, V.; Schwarz, H.; Koenen, M.; Berberich, C.; Villarroel, A.; Wernig, A.; Brenner, H. R.; Sakmann, B.: Acetylcholine receptor epsilon-subunit deletion causes muscle weakness and atrophy in juvenile and adult mice. Proc. Nat. Acad. Sci. 93: 13286-13291, 1996.
[0018230]8818.Bartels, C. F.; Zelinski, T.; Lockridge, O.: Mutation at codon 322 in the human acetylcholinesterase (ACHE) gene accounts for YT blood group polymorphism. Am. J. Hum. Genet. 52: 928-936, 1993.
[0018231]8819.Coates, P. M.; Simpson, N. E.: Genetic variation in human erythrocyte acetylcholinesterase. Science 175: 1466-1467, 1972.
[0018232]8820.Ehrlich, G.; Viegas-Pequignot, E.; Ginzberg, D.; Sindel, L.; Soreq, H.; Zakut, H.: Mapping the human acetylcholinesterase gene to chromosome 7q22 by fluorescent in situ hybridization coupled with selective PCR amplification from a somatic hybrid cell panel and chromosome-sorted DNA libraries. Genomics 13: 1192-1197, 1992.
[0018233]8821.Feng, G.; Krejci, E.; Molgo, J.; Cunningham, J. M.; Massoulie, J.; Sanes, J. R.: Genetic analysis of collagen Q: roles in acetylcholinesterase and butyrylcholinesterase assembly and in synaptic structure and function. J. Cell Biol. 144: 1349-1360, 1999.
[0018234]8822.Getman, D. K.; Eubanks, J. H.; Camp, S.; Evans, G. A.; Taylor, P.: The human gene encoding acetylcholinesterase is located on the long arm of chromosome 7. Am. J. Hum. Genet. 51: 170-177, 1992.
[0018235]8823.Lapidot-Lifson, Y.; Prody, C. A.; Ginzberg, D.; Meytes, D.; Zakut, H.; Soreq, H.: Coamplification of human acetylcholinesterase and butyrylcholinesterase genes in blood cells: correlation with various leukemias and abnormal megakaryocytopoiesis. Proc. Nat. Acad. Sci. 86: 4715-4719, 1989.
[0018236]8824.Meshorer, E.; Erb, C.; Gazit, R.; Pavlovsky, L.; Kaufer, D.; Friedman, A.; Glick, D.; Ben-Arie, N.; Soreq, H.: Alternative splicing and neuritic mRNA translocation under long-term neuronal hypersensitivity. Science 295: 508-512, 2002.
[0018237]8825.Rachinsky, T. L.; Crenshaw, E. B., III; Taylor, P.: Assignment of the gene for acetylcholinesterase to distal mouse chromosome 5. Genomics 14: 511-514, 1992.
[0018238]8826.Rotundo, R. L.; Gomez, A. M.; Fernandez-Valle, C.; Randall, W. R.: Allelic variants of acetylcholinesterase: genetic evidence that all acetylcholinesterase forms in avian nerves and muscles are encoded by a single gene. Proc. Nat. Acad. Sci. 85: 7805-7809, 1988.
[0018239]8827.Shapira, M.; Tur-Kaspa, I.; Bosgraaf, L.; Livni, N.; Grant, A. D.; Grisaru, D.; Korner, M.; Ebstein, R. P.; Soreq, H.: A transcription-activating polymorphism in the ACHE promoter associated with acute sensitivity to anti-acetylcholinesterases. Hum. Molec. Genet. 9: 1273-1281, 2000.
[0018240]8828.Drayna, D. T.; McLean, J. W.; Wion, K. L.; Trent, J. M.; Drabkin, H. A.; Lawn, R. M.: Human apolipoprotein D gene: gene sequence, chromosome localization, and homology to the alpha-2mu-globulin superfamily. DNA 6: 199-204, 1987.
[0018241]8829.Fielding, P. E.; Fielding, C. J.: A cholesteryl ester transfer complex in human plasma. Proc. Nat. Acad. Sci. 77: 3327-3330, 1980.
[0018242]8830.Graham, C. A.; McGrew, W. C.: Menstrual synchrony in female undergaduates living on a coeducational campus. Psychoneuroendocrinology 5: 245-252, 1980.
[0018243]8831.Kamboh, M. I.; Albers, J. J.; Majumder, P. P.; Ferrell, R. E.: Genetic studies of human apolipoproteins. IX. Apolipoprotein D polymorphism and its relation to serum lipoprotein lipid levels. Am. J. Hum. Genet. 45: 147-154, 1989.
[0018244]8832.McClintock, M. K.: Menstrual synchrony and suppression. Nature 229: 244-245, 1971.
[0018245]8833.McClintock, M. K.: Estrous synchrony and its mediation by airborn chemical communication (Rattus norvegicus). Horm. Behav. 10: 264-276, 1978.
[0018246]8834.Quadagno, D. M.; Shubeita, H. E.; Deck, J.; Francoeur, D.: Influence of male social contacts, exercise and all-female living conditions on the menstrual cycle. Psychoneuroendocrinology 6: 239-244, 1981.
[0018247]8835.Warden, C. H.; Diep, A.; Taylor, B. A.; Lusis, A. J.: Localization of the gene for apolipoprotein D on mouse chromosome 16. Genomics 12: 851-852, 1992.
[0018248]8836.Zeng, C.; Spielman, A. I.; Vowels, B. R.; Leyden, J. J.; Biemann, K.; Preti, G.: A human axillary odorant is carried by apolipoprotein D. Proc. Nat. Acad. Sci. 93: 6626-6630, 1996.
[0018249]8837.Ruttledge, M. H.; Narod, S. A.; Dumanski, J. P.; Parry, D. M.; Eldridge, R.; Wertelecki, W.; Parboosingh, J.; Faucher, M.-C.; Lenoir, G. M.; Collins, V. P.; Nordenskjold, M.; Rouleau, G. A.: Presymptomatic diagnosis for neurofibromatosis 2 with chromosome 22 markers. Neurology 43: 1753-1760, 1993.
[0018250]8838.Ruttledge, M. H.; Sarrazin, J.; Rangaratnam, S.; Phelan, C. M.; Twist, E.; Merel, P.; Delattre, O.; Thomas, G.; Nordenskjold, M.; Collins, V. P.; Dumanski, J. P.; Rouleau, G. A.: Evidence for the complete inactivation of the NF2 gene in the majority of sporadic meningiomas. Nature Genet. 6: 180-184, 1994.
[0018251]8839.Sainz, J.; Huynh, D. P.; Figueroa, K.; Ragge, N. K.; Baser, M. E.; Pulst, S.-M.: Mutations of the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomas. Hum. Molec. Genet. 3: 885-891, 1994.
[0018252]8840.Schulze, K. M. M.; Hanemann, C. O.; Muller, H. W.; Hanenburg, H.: Transduction of wild-type merlin into human schwannoma cells decreases schwannoma cell growth and induces apoptosis. Hum. Molec. Genet. 11: 69-76, 2002.
[0018253]8841.Scoles, D. R.; Baser, M. E.; Pulst, S.-M.: A missense mutation in the neurofibromatosis 2 gene occurs in patients with mild and severe phenotypes. Neurology 47: 544-546, 1996.
[0018254]8842.Scoles, D. R.; Huynh, D. P.; Chen, M. S.; Burke, S. P.; Gutmann, D. H.; Pulst, S.-M.: The neurofibromatosis 2 tumor suppressor protein interacts with hepatocyte growth factor-regulated tyrosine kinase substrate. Hum. Molec. Genet. 9: 1567-1574, 2000.
[0018255]8843.Seizinger, B. R.; Martuza, R. L.; Gusella, J. F.: Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma. Nature 322: 644-647, 1986.
[0018256]8844.Seizinger, B. R.; Rouleau, G.; Ozelius, L. J.; Lane, A. H.; St. George-Hyslop, P.; Huson, S.; Gusella, J. F.; Martuza, R. L.: Common pathogenetic mechanism for three tumor types in bilateral acoustic neurofibromatosis. Science 236: 317-319, 1987.
[0018257]8845.Sestini, R.; Vivarelli, R.; Balestri, P.; Ammannati, F.; Montali, E.; Papi, L.: Neurofibromatosis type 2 attributable to gonosomal mosaicism in a clinically normal mother, and identification of seven novel mutations in the NF2 gene. Hum. Genet. 107: 366-371, 2000.
[0018258]8846.Siggers, D. C.; Boyer, S. H.; Eldridge, R.: Nerve-growth factor in disseminated neurofibromatosis. (Letter) New Eng. J. Med. 292: 1134, 1975.
[0018259]8847.Stokowski, R. P.; Cox, D. R.: Functional analysis of the neurofibromatosis type 2 protein by means of disease-causing point mutations. Am. J. Hum. Genet. 66: 873-891, 2000.
[0018260]8848.Thomas, G.: Personal Communication. Paris, France 11/17/1993.
[0018261]8849.Trofatter, J. A.; MacCollin, M. M.; Rutter, J. L.; Murrell, J. R.; Duyao, M. P.; Parry, D. M.; Eldridge, R.; Kley, N.; Menon, A. G.; Pulaski, K.; Haase, V. H.; Ambrose, C. M.; Munroe, D.; Bove, C.; Haines, J. L.; Martuza, R. L.; MacDonald, M. E.; Seizinger, B. R.; Short, M. P.; Buckler, A. J.; Gusella, J. F.: A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. Cell 72: 791-800, 1993.
[0018262]8850.Wellenreuther, R.; Kraus, J. A.; Lenartz, D.; Menon, A. G.; Schramm, J.; Louis, D. N.; Ramesh, V.; Gusella, J. F.; Wiestler, O. D.; von Deimling, A.: Analysis of the neurofibromatosis 2 gene reveals molecular variants of meningioma. Am. J. Path. 146: 827-832, 1995.
[0018263]8851.Wertelecki, W.; Rouleau, G. A.; Superneau, D. W.; Forehand, L. W.; Williams, J. P.; Haines, J. L.; Gusella, J. F.: Neurofibromatosis 2: clinical and DNA linkage studies of a large kindred. New Eng. J. Med. 319: 278-283, 1988.
[0018264]8852.Wishart, J. H.: Case of tumours in the skull, dura mater, and brain. Edinburgh Med. Surg. J. 18: 393-397, 1822.
[0018265]8853.Wolff, R. K.; Frazer, K. A.; Jackler, R. K.; Lanser, M. J.; Pitts, L. H.; Cox, D. R.: Analysis of chromosome 22 deletions in neurofibromatosis type 2-related tumors. Am. J. Hum. Genet. 51: 478-485, 1992.
[0018266]8854.Worster-Drought, C.; Dickson, W. E. C.; McMenemey, W. H.: Multiple meningeal and perineural tumors with analogous changes in the glia and ependyma (neurofibroblastomatosis). Brain 60: 85-117, 1937.
[0018267]8855.Wu, C. L.; Thakker, N.; Neary, W.; Black, G.; Lye, R.; Ramsden, R. T.; Read, A. P.; Evans, D. G. R.: Differential diagnosis of type 2 neurofibromatosis: molecular discrimination of NF2 and sporadic vestibular schwannomas. J. Med. Genet. 35: 973-977, 1998.
[0018268]8856.Young, D. F.; Eldridge, R.; Gardner, W. J.: Bilateral acoustic neuroma in a large kindred. J.A.M.A. 214: 347-353, 1970.
[0018269]8857.Zucman-Rossi, J.; Legoix, P.; Der Sarkissian, H.; Cheret, G.; Sor, F.; Bernardi, A.; Cazes, L.; Giraud, S.; Ollagnon, E.; Lenoir, G.; Thomas, G.: NF2 gene in neurofibromatosis type 2 patients. Hum. Molec. Genet. 7: 2095-2101, 1998.
[0018270]8858.Gatalica, B.; Pulkkinen, L.; Li, K.; Kuokkanen, K.; Ryynanen, M.; McGrath, J. A.; Uitto, J.: Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa. Am. J. Hum. Genet. 60: 352-365, 1997.
[0018271]8859.Wang, H.; Iakova, P.; Wilde, M.; Welm, A.; Goode, T.; Roesler, W. J.; Timchenko, N. A.: C/EBP-alpha arrests cell proliferation through direct inhibition of Cdk2 and Cdk4. Molec. Cell 8: 817-828, 2001.
[0018272]8860.Wang, N.; Finegold, M. J.; Bradley, A.; Ou, C. N.; Abdelsayed, S. V.; Wilde, M. D.; Taylor, L. R.; Wilson, D. R.; Darlington, G. J.: Impaired energy homeostasis in C/EBP-alpha knockout mice. Science 269: 1108-1112, 1995.
[0018273]8861.Wu, Z.; Rosen, E. D.; Brun, R.; Hauser, S.; Adelmant, G.; Troy, A. E.; McKeon, C.; Darlington, G. J.; Spiegelman, B. M.: Cross-regulation of C/EBP-alpha and PPAR-gamma controls the transcriptional pathway of adipogenesis and insulin sensitivity. Molec. Cell 3: 151-158, 1999.
[0018274]8862.Cleutjens, C. B. J. M.; van Eekelen, C. C. E. M.; van Dekken, H.; Smit, E. M. E.; Hagemeijer, A.; Wagner, M. J.; Wells, D. E.; Trapman, J.: The human C/EBP-delta (CRP3/CELF) gene: structure and chromosomal localization. Genomics 16: 520-523, 1993.
[0018275]8863.Williams, S. C.; Cantwell, C. A.; Johnson, P. F.: A family of C/EBP-related proteins capable of forming covalently linked leucine zipper dimers in vitro. Genes Dev. 5: 1553-1567, 1991.
[0018276]8864.Al-Awqati, Q.; Preisig, P. A.: Size does matter: will knockout of p21(WAF1/CIP1) save the kidney by limiting compensatory renal growth? (Commentary) Proc. Nat. Acad. Sci. 96: 10551-10553, 1999.
[0018277]8865.Chedid, M.; Michieli, P.; Lengel, C.; Huppi, K.; Givol, D.: A single nucleotide substitution at codon 31 (ser/arg) defines a polymorphism in a highly conserved region of the p53-inducible gene WAF1/CIP1. Oncogene 9: 3021-3024, 1994.
[0018278]8866.Cheng, T.; Rodrigues, N.; Shen, H.; Yang, Y.; Dombkowski, D.; Sykes, M.; Scadden, D. T.: Hematopoietic stem cell quiescence maintained by p21(cip1/waf1). Science 287: 1804-1808, 2000.
[0018279]8867.Harper, J. W.; Adami, G. R.; Wei, N.; Keyomarsi, K.; Elledge, S. J.: The p21 Cdkinteracting protein Cip1 is a potent inhibitor of G1 cyclin-dependent kinases. Cell 75: 805-816, 1993.
[0018280]8868.Huppi, K.; Siwarski, D.; Dosik, J.; Michieli, P.; Chedid, M.; Reed, S.; Mock, B.; Givol, D.; Mushinski, J. F.: Molecular cloning, sequencing, chromosomal localization and expression of mouse p21 (Waf1). Oncogene 9: 3017-3020, 1994.
[0018281]8869.Megyesi, J.; Price, P. M.; Tamayo, E.; Safirstein, R. L.: The lack of a functional p21(WAF1/CIP1) gene ameliorates progression to chronic renal failure. Proc. Nat. Acad. Sci. 96: 10830-10835, 1999.
[0018282]8870.Mousses, S.; Ozcelik, H.; Lee, P. D.; Malkin, D.; Bull, S. B.; Andrulis, I. L.: Two variants of the CIP1/WAF1 gene occur together and are associated with human cancer. Hum. Molec. Genet. 4: 1089-1092, 1995.
[0018283]8871.Heintz, N.; Zoghbi, H.: Alpha-synuclein--a link between Parkinson and Alzheimer diseases? Nature Genet. 16: 325-327, 1997.
[0018284]8872.Iwata, N.; Tsubuki, S.; Takaki, Y.; Shirotani, K.; Lu, B.; Gerard, N. P.; Gerard, C.; Hama, E.; Lee, H.-J.; Saido, T. C.: Metabolic regulation of brain A-beta by neprilysin. Science 292: 1550-1552, 2001.
[0018285]8873.Kang, J.; Lemaire, H.-G.; Unterbeck, A.; Salbaum, J. M.; Masters, C. L.; Grzeschik, K.-H.; Multhaup, G.; Beyreuther, K.; Muller-Hill, B.: The precursor of Alzheimer's disease amyloid A4 protein resembles a cell-surface receptor. Nature 325: 733-736, 1987.
[0018286]8874.Lu, P.-J.; Wulf, G.; Zhou, X. Z.; Davies, P.; Lu, K. P.: The prolyl isomerase Pin1 restores the function of Alzheimer-associated phosphorylated tau protein. Nature 399: 784-788, 1999.
[0018287]8875.Helmerhorst, E. J.; van't Hof, W.; Breeuwer, P.; Veerman, E. C. I.; Abee, T.; Troxler, R. F.; Nieuw Amerongen, A. V.; Oppenheim, F. G.: Characterization of histatin 5 with respect to amphipathicity, hydrophobicity, and effects on cell and mitochondrial membrane integrity excludes a candidacidal mechanism of pore formation. J. Biol. Chem. 276: 5643-5649, 2001.
[0018288]8876.Sabatini, L. M.; Azen, E. A.: Two coding change mutations in the HIS2(2) allele characterize the salivary histatin 3-2 protein variant. Hum. Mutat. 4: 12-19, 1994.
[0018289]8877.Troxler, R. F.; Offner, G. D.; Xu, T.; Vanderspek, J. C.; Oppenheim, F. G.: Structural relationship between human salivary histatins. J. Dent. Res. 69: 2-6, 1990.
[0018290]8878.vanderSpek, J. C.; Wyandt, H. E.; Skare, J. C.; Milunsky, A.; Oppenheim, F. G.; Troxler, R. F.: Localization of the genes for histatins to human chromosome 4q13 and tissue distribution of the mRNAs. Am. J. Hum. Genet. 45: 381-387, 1989.
[0018291]8879.Stamey, T. A.; Yang, N.; Hay, A. R.; McNeal, J. E.; Freiha, F. S.; Redwine, E.: Prostatespecific antigen as a serum marker for adenocarcinoma of the prostate. New Eng. J. Med. 317: 909-916, 1987.
[0018292]8880.Seldin, M. F.: Personal Communication. Durham, N. C. 9/19/1990.
[0018293]8881.Sherman, L.; Wainwright, D.; Ponta, H.; Herrlich, P.: A splice variant of CD44 expressed in the apical ectodermal ridge presents fibroblast growth factors to limb mesenchyme and is required for limb outgrowth. Genes Dev. 12: 1058-1071, 1998.
[0018294]8882.Stefanova, I.; Hilgert, I.; Bazil, V.; Kristofova, H.; Horejsi, V.: Human leucocyte surface glycoprotein CDw44 and lymphocyte homing receptor are identical molecules. Immunogenetics 29: 402-404, 1989.
[0018295]8883.Teder, P.; Vandivier, R. W.; Jiang, D.; Liang, J.; Cohn, L.; Pure, E.; Henson, P. M.; Noble, P. W.: Resolution of lung inflammation by CD44. Science 296: 155-158, 2002.
[0018296]8884.Telen, M. J.: Personal Communication. Durham, N. C. 12/30/1992.
[0018297]8885.Telen, M. J.; Eisenbarth, G. S.; Haynes, B. F.: Human erythrocyte antigens: regulation of expression of a novel erythrocyte surface antigen by the inhibitor Lutheran In(Lu) gene. J. Clin. Invest. 71: 1878-1886, 1983.
[0018298]8886.Mueller, T. J.; Morrison, M.: Detection of a variant of protein 3, the major transmembrane protein of the human erythrocyte. J. Biol. Chem. 252: 6573-6576, 1977.
[0018299]8887.Mueller, T. J.; Morrison, M.: Heterogeneity of the major protein in the human erythrocyte membrane. (Abstract) Fed. Proc. 36: 747, 1977.
[0018300]8888.Palatnik, M.; da Silva Simoes, M. L. M.; Alves, Z. M. S.; Laranjeira, N. S. M.: The 60 and 63 kDa proteolytic peptides of the red cell membrane band-3 protein: their prevalence in human and non-human primates. Hum. Genet. 86: 126-130, 1990.
[0018301]8889.Palumbo, A. P.; Isobe, M.; Huebner, K.; Shane, S.; Rovera, G.; Demuth, D.; Curtis, P. J.; Ballantine, M.; Croce, C. M.; Showe, L. C.: Chromosomal localization of a human band 3-like gene to region 7q35-7q36. Am. J. Hum. Genet. 39: 307-316, 1986.
[0018302]8890.Pawloski, J. R.; Hess, D. T.; Stamler, J. S.: Export by red blood cells of nitric oxide bioactivity. Nature 409: 622-626, 2001.
[0018303]8891.Peters, L. L.; Shivdasani, R. A.; Liu, S.-C.; Hanspal, M.; John, K. M.; Gonzalez, J. M.; Brugnara, C.; Gwynn, B.; Mohandas, N.; Alper, S. L.; Orkin, S. H.; Lux, S. E.: Anion exchanger 1 (band 3) is required to prevent erythrocyte membrane surface loss but not to form the membrane skeleton. Cell 86: 917-927, 1996.
[0018304]8892.Prchal, J. T.; Guan, Y.; Jarolim, P.; Palek, J.; Showe, L.; Bertoli, L.: Hereditary spherocytosis in a large family is linked with the band 3 gene and not with alpha-spectrin, beta-spectrin or ankyrin. (Abstract) Blood 78 (suppl.): 81a, 1991.
[0018305]8893.Ranney, H. M.; Rosenberg, G. H.; Morrison, M.; Mueller, T. J. : Frequencies of band 3 variants of human red cell membranes in some different populations. Brit. J. Haemat. 76: 262-267, 1990.
[0018306]8894.Ravindranath, Y.; Goyette, G., Jr.; Johnson, R. M.: Southeast Asian ovalocytosis in an African-American family. (Letter) Blood 84: 2823-2824, 1994.
[0018307]8895.Reinhart, W. H.; Wyss, E. J.; Arnold, D.; Ott, P.: Hereditary spherocytosis associated with protein band 3 defect in a Swiss kindred. Brit. J. Haemat. 86: 147-155, 1994.
[0018308]8896.Ribeiro, M. L.; Alloisio, N.; Almeida, H.; Gomes, C.; Texier, P.; Lemos, C.; Mimoso, G.; Morle, L.; Bey-Cabet, F.; Rudigoz, R.-C.; Delaunay, J.; Tamagnini, G.: Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3. Blood 96: 1602-1604, 2000.
[0018309]8897.Rybicki, A. C.; Qiu, J. J. H.; Musto, S.; Rosen, N. L.; Nagel, R. L.; Schwartz, R. S.: Human erythrocyte protein 4.2 deficiency associated with hemolytic anemia and a homozygous 40 glutamic acid-to-lysine substitution in the cytoplasmic domain of band 3 (band 3 Montefiore). Blood 81: 2155-2165, 1993.
[0018310]8898.Saad, S. T. O.; Liu, S. C.; Golan, D.; Corbett, J. B.; Thatte, H. S.; Derick, L.; Hanspal, M.; Jarolim, P.; Fibach, E.; Palek, J. : Mechanism underlying band 3 deficiency in a subset of patients with hereditary spherocytosis (HS). (Abstract) Blood 78 (suppl.): 81a, 1991.
[0018311]8899.Sahr, K. E.; Taylor, W. M.; Daniels, B. P.; Rubin, H. L.; Jarolim, P.: The structure and organization of the human erythroid anion exchanger (AE1) gene. Genomics 24: 491-501, 1994.
[0018312]8900.Schofield, A. E.; Martin, P. G.; Spillett, D.; Tanner, M. J. A. : The structure of the human red blood cell anion exchanger (EPB3, AE1, Band 3) gene. Blood 84: 2000-2012, 1994.
[0018313]8901.Schulman, S.; Roth, E. F., Jr.; Cheng, B.; Rybicki, A. C.; Sussman, I. I.; Wong, M.; Wang, W.; Ranney, H. M.; Nagel, R. L.; Schwartz, R. S.: Growth of Plasmodium falciparum in human erythrocytes containing abnormal membrane proteins. Proc. Nat. Acad. Sci. 87: 7339-7343, 1990.
[0018314]8902.Serjeantson, S.; Bryson, K.; Amato, D.; Babona, D.: Malaria and hereditary ovalocytosis. Hum. Genet. 37: 161-167, 1977.
[0018315]8903.Showe, L. C.; Ballantine, M.; Huebner, K.: Localization of the gene for the erythroid anion exchange protein, band 3 (EMPB3), to human chromosome 17. Genomics 1: 71-76, 1987.
[0018316]8904.Southgate, C. D.; Chisti, A. H.; Mitchell, B.; Yi, S. J.; Palek, J.: Targeted disruption of the murine erythroid band 3 gene results in spherocytosis and severe haemolytic anaemia despite a normal membrane skeleton. Nature Genet. 14: 227-230, 1996.
[0018317]8905.Stewart, E. A.; Kopito, R.; Bowcock, A. M.: A PstI polymorphism for the human erythrocyte surface protein band 3 (EPB3) demonstrates close linkage of EPB3 to the nerve growth factor receptor. Genomics 5: 633-635, 1989.
[0018318]8906.Tanner, M. J. A.: Molecular and cellular biology of the erythrocyte anion exchanger (AE1). Seminars Hemat. 30: 34-57, 1993.
[0018319]8907.Tanner, M. J. A.; Bruce, L.; Martin, P. G.; Rearden, D. M.; Jones, G. L.: Melanesian hereditary ovalocytes have a deletion in red cell band 3. (Letter) Blood 78: 2785-2786, 1991.
[0018320]8908.Tanphaichitr, V. S.; Sumboonnanonda, A.; Ideguchi, H.; Shayakul, C.; Brugnara, C.; Takao, M.; Veerakul, G.; Alper, S. L.: Novel AE1 mutations in recessive distal renal tubular acidosis: loss-of-function is rescued by glycophorin A. J. Clin. Invest. 102: 2173-2179, 1998.
[0018321]8909.Toye, A. M.; Bruce, L. J.; Unwin, R. J.; Wrong, O.; Tanner, M. J. A.: Band 3 Walton, a C-terminal deletion associated with distal renal tubular acidosis, is expressed in the red cell membrane but retained internally in kidney cells. Blood 99: 342-347, 2002.
[0018322]8910.Wrong, O. M.; Feest, T. G.; MacIver, A. G.: Immune-related potassium-losing interstitial nephritis: a comparison with distal renal tubular acidosis. Quart. J. Med. 86: 513-534, 1993.
[0018323]8911.Yannoukakos, D.; Vasseur, C.; Driancourt, C.; Blouquit, Y.; Delaunay, J.; Wajcman, H.; Bursaux, E.: Human erythrocyte band 3 polymorphism (band 3 Memphis): characterization of the structural modification (lys56-to-glu) by protein chemistry methods. Blood 78: 1117-1120, 1991.
[0018324]8912.Mallinson, G.; Soo, K. S.; Schall, T. J.; Pisacka, M.; Anstee, D. J.: Mutations in the erythrocyte chemokine receptor (Duffy) gene: the molecular basis of the Fy(a)/Fy(b) antigens and identification of a deletion in the Duffy gene of an apparently healthy individual with the Fy(a-b-) phenotype. Brit. J. Haemat. 90: 823-829, 1995.
[0018325]8913.Miller, L. H.; Mason, S. J.; Clyde, D. F.; McGinnis, M. H.: The resistance factor to Plasmodium vivax in blacks: the Duffy blood group genotype, FyFy. New Eng. J. Med. 295: 302-304, 1976.
[0018326]8914.Miller, L. H.; Mason, S. J.; Dvorak, J. A.: Erythrocyte receptors of Plasmodium knowlesi malaria: Duffy blood group determinants. Science 189: 561-562, 1975.
[0018327]8915.Nance, W. E.; Conneally, M.; Kang, K. W.; Reed, T. E.; Schroder, J.; Rose, S.: Genetic linkage analysis of human hemoglobin variants. Am. J. Hum. Genet. 22: 453-459, 1970.
[0018328]8916.Nichols, M. E.; Rubinstein, P.; Barnwell, J.; Rodriguez de Cordoba, S.; Rosenfield, R. E.: A new human Duffy blood group specificity defined by a murine monoclonal antibody: immunogenetics and association with susceptibility to Plasmodium vivax. J. Exp. Med. 166: 776-785, 1987.
[0018329]8917.Olsson, M. L.; Smythe, J. S.; Hansson, C.; Poole, J.; Mallinson, G.; Jones, J.; Avent, N. D.; Daniels, G.: The Fy(x) phenotype is associated with a missense mutation in the Fy(b) allele predicting Arg89Cys in the Duffy glycoprotein. Brit. J. Haemat. 103: 1184-1191, 1998.
[0018330]8918.Palmer, C. G.; Christian, J. C.; Merritt, A. D.: Partial trisomy 1 due to a 'shift' and probable location of the Duffy (Fy) locus. Am. J. Hum. Genet. 29: 371-377, 1977.
[0018331]8919.Parasol, N.; Reid, M.; Rios, M.; Castilho, L.; Harari, I.; Kosower, N. S.: A novel mutation in the coding sequence of the FY*B allele of the Duffy chemokine receptor gene is associated with an altered erythrocyte phenotype. Blood 92: 2237-2243, 1998.
[0018332]8920.Pasvol, G.; Wilson, R. J. M.: The interaction of malaria parasites with red blood cells. Brit. Med. Bull. 38: 133-140, 1982.
[0018333]8921.Peiper, S. C.; Wang, Z.; Neote, K.; Martin, A. W.; Showell, H. J.; Conklyn, M. J.; Ogborne, K.; Hadley, T. J.; Lu, Z.; Hesselgesser, J.; Horuk, R.: The Duffy antigen/receptor for chemokines (DARC) is expressed in endothelial cells of Duffy negative individuals who lack the erythrocyte receptor. J. Exp. Med. 181: 1311-1317, 1995.
[0018334]8922.Ritter, H.: Zur formalen Genetik des Duffy-systems. Untersuchung von 247 Familien. Humangenetik 4: 59-61, 1967.
[0018335]8923.Robson, E. B.; Cook, P. J. L.; Corney, G.; Hopkinson, D. A.; Noades, J.; Cleghorn, T. E.: Linkage data on Rh, PGM, PGD, peptidase C and Fy from family studies. Ann. Hum. Genet. 36: 393-399, 1973.
[0018336]8924.Szabo, M. C.; Soo, K. S.; Zlotnik, A.; Schall, T. J.: Chemokine class differences in binding to the Duffy antigen-erythrocyte chemokine receptor. J. Biol. Chem. 270: 25348-25351, 1995.
[0018337]8925.Tamasauskas, D.; Powell, V.; Saksela, K.; Yazdanbakhsh, K.: A homologous naturally occurring mutation in Duffy and CCR5 leading to reduced receptor expression. Blood 97: 3651-3654, 2001.
[0018338]8926.Tang, T.; Owen, J. D.; Du, J.; Walker, C. L.; Richmond, A.: Molecular cloning and characterization of a mouse gene with homology to the Duffy-antigen receptor for chemokines. DNA Seq. 9: 129-143, 1999.
[0018339]8927.Tournamille, C.; Kim Le Van, C.; Gane, P.; Le Pennec, P. Y.; Roubinet, F.; Babinet, J.; Cartron, J. P.; Colin, Y.: Arg89Cys substitution results in very low membrane expression of the Duffy antigen/receptor for chemokines in Fy(x) individuals. Blood 92: 2147-2156, 1998. Note: Erratum. Blood 95: 2753 only, 2000.
[0018340]8928.Tournamille, C.; Le Van Kim, C.; Gane, P.; Cartron, J.-P.; Colin, Y.: Molecular basis and PCR-DNA typing of the Fya/fyb blood group polymorphism. Hum. Genet. 95: 407-410, 1995.
[0018341]8929.Weitkamp, L. R.: Personal Communication. Rochester, N. Y. 1972.
[0018342]8930.Zimmerman, P. A.; Woolley, I.; Masinde, G. L.; Miller, S. M.; McNamara, D. T.; Hazlett, F.; Mgone, C. S.; Alpers, M. P.; Genton, B.; Boatin, B. A.; Kazura, J. W.: Emergence of FY*A(null) in a Plasmodium vivax-endemic region of Papua New Guinea. Proc. Nat. Acad. Sci. 96: 13973-13977, 1999.
[0018343]8931.Anderson, S. E.; McKenzie, J. L.; McLoughlin, K.; Beard, M. E. J.; Hart, D. N. J.: The inheritance of abnormal sialoglycoproteins found in a Gerbich negative individual. Pathology 18: 407-412, 1986.
[0018344]8932.Anstee, D. J.; Parsons, S. F.; Ridgwell, K.; Tanner, M. J. A.; Merry, A. H.; Thomson, E. E.; Judson, P. A.; Johnson, P.; Bates, S.; Fraser, I. D.: Two individuals with elliptocytic red cells apparently lack three minor erythrocyte membrane sialoglycoproteins. Biochem. J. 218: 615-619, 1984.
[0018345]8933.Barnes, R.; Lewis, T. L. T.: A rare antibody (anti-Ge) causing hemolytic disease of the newborn. Lancet II: 1285-1286, 1961.
[0018346]8934.Bennett, V.: The membrane skeleton of human erythrocytes and its implications for more complex cells. Annu. Rev. Biochem. 54: 273-304, 1985.
[0018347]8935.Bloomfield, L.; Rowe, G. P.; Green, C.: The Webb (Wb) antigen in South Wales donors. Hum. Hered. 36: 352-356, 1986.
[0018348]8936.Booth, P. B.; McLoughlin, K.: The Gerbich blood group system, especially in Melanesians. Vox Sang. 22: 73-84, 1972.
[0018349]8937.Cartron, J.-P.; Colin, Y.; Kudo, S.; Fukuda, M.: Molecular genetics of human erythrocyte sialoglycoproteins A, B, C, and D.In: Harris, J. R.: Erythroid Cells. Blood Cell Biochemistry. New York: Plenum Press (pub.) 1: 1990. Pp. 299-335.
[0018350]8938.Chang, S.; Reid, M. E.; Conboy, J.; Kan, Y. W.; Mohandas, N.: Molecular characterization of erythrocyte glycophorin C variants. Blood 77: 644-648, 1991.
[0018351]8939.Tommerup, N.; Leffers, H.: Assignment of the human genes encoding 14-3-3 eta (YWHAH) to 22q12, 14-3-3 zeta (YWHAZ) to 2p25.1-p25.2, and 14-3-3 beta (YWHAB) to 20q13.1 by in situ hybridization. Genomics 33: 149-150, 1996.
[0018352]8940.Yaffe, M. B.; Rittinger, K.; Volinia, S.; Caron, P. R.; Aitken, A.; Leffers, H.; Gamblin, S. J.; Smerdon, S. J.; Cantley, L. C.: The structural basis for 14-3-3:phosphopeptide binding specificity. Cell 91: 961-971, 1997.
[0018353]8941.Ben-Yosef, T.; Eden, A.; Benvenisty, N.: Characterization of murine BCAT genes: Bcat1, a c-Myc target, and its homolog, Bcat2. Mammalian Genome 9: 595-597, 1998.
[0018354]8942.Benvenisty, N.; Leder, A.; Kuo, A.; Leder, P.: An embryonically expressed gene is a target for c-Myc regulation via the c-Myc-binding sequence. Genes Dev. 6: 2513-2523, 1992.
[0018355]8943.Eden, A.; Simchen, G.; Benvenisty, N.: Two yeast homologs of ECA39, a target for c-Myc regulation, code for cytosolic and mitochondrial branched-chain amino acid aminotransferases. J. Biol. Chem. 271: 20242-20245, 1996.
[0018356]8944.Jones, C.; Moore, E. E.: Isolation of mutants lacking branched-chain amino acid transaminase. Somat. Cell Genet. 2: 235-243, 1976.
[0018357]8945.Jones, C.; Moore, E. E.: Assignment of the human gene complementing the auxotrophic marker TRANS-minus (BCT1) to chromosome 12. (Abstract) Cytogenet. Cell Genet. 25: 168 only, 1979.
[0018358]8946.Jones, C.; Moore, E. E.: Localization of a gene which complements branched-chain amino acid transaminase deficiency to the short arm of human chromosome 12. Hum. Genet. 66: 206-211, 1984.
[0018359]8947.Naylor, S. L.; Shows, T. B.: Branched-chain aminotransferase genes (BCT-1 and BCT-2) assigned to human chromosomes 12 and 19 using alpha-keto acid selection media. (Abstract) Cytogenet. Cell Genet. 25: 191-192, 1979.
[0018360]8948.Naylor, S. L.; Shows, T. B.: Branched-chain aminotransferase deficiency in Chinese hamster cells complemented by two independent genes on human chromosomes 12 and 19. Somat. Cell Genet. 6: 641-652, 1980.
[0018361]8949.Schuldiner, O.; Eden, A.; Ben-Yosef, T.; Yanuka, O.; Simchen, G.; Benvenisty, N.: ECA39, a conserved gene regulated by c-Myc in mice, is involved in G1/S cell cycle regulation in yeast. Proc. Nat. Acad. Sci. 93: 7143-7148, 1996.
[0018362]8950.Tanaka, K.; Rosenberg, L. E.: Disorders of branched chain amino acid and organic acid metabolism.In: Stanbury, J. B.; Wyngaarden, J. B.; Fredrickson, D. S.; Goldstein, J. L.; Brown, M. S.: The Metabolic Basis of Inherited Disease. New York: McGraw-Hill (pub.) (5th ed.): 1983. Pp. 450-451.
[0018363]8951.Bassett, D. E., Jr.; Boguski, M. S.; Spencer, F.; Reeves, R.; Kim, S.; Weaver, T.; Hieter, P.: Genome cross-referencing and XREFdb: implications for the identification and analysis of genes mutated in human disease. Nature Genet. 15: 339-344, 1997.
[0018364]8952.Bijlsma, E. K.; Merel, P.; Bosch, D. A.; Westerveld, A.; Delattre, O.; Thomas, G.; Hulsebos, T. J. M.: Analysis of mutations in the SCH gene in schwannomas. Genes Chromosomes Cancer 11: 7-14, 1994.
[0018365]8953.Nagase, S.; Shimamune, K.; Shumiya, S.: Albumin-deficient rat mutant. Science 205: 590-591, 1979.
[0018366]8954.Cattanach, B. M.; Barr, J. A.; Evans, E. P.; Burtenshaw, M.; Beechey, C. V.; Leff, S. E.; Brannan, C. I.; Copeland, N. G.; Jenkins, N. A.; Jones, J.: A candidate mouse model for Prader-Willi syndrome which shows an absence of Snrpn expression. Nature Genet. 2: 270-274, 1992.
[0018367]8955.Telen, M. J.; Palker, T. J.; Haynes, B. F.: Human erythrocyte antigens: II. The In(Lu) gene regulates expression of an antigen on an 80-kilodalton protein of human erythrocytes. Blood 64: 599-606, 1984.
[0018368]8956.Colin, Y.; Rahuel, C.; London, J.; Romeo, P. H.; d'Auriol, L.; Galibert, F.; Cartron, J.-P.: Isolation of cDNA clones and complete amino acid sequence of human erythrocyte glycophorin C. J. Biol. Chem. 261: 229-233, 1986.
[0018369]8957.Dayhoff, M. O.: Atlas of Protein Sequence and Structure. Collagen alpha-1 chain . Washington: National Biomedical Research Foundation (pub.) 5: 1972. Pp. D297-D300.
[0018370]8958.Groussin, P.; Renard, J.-P.; Chavanne, D.; Bertrand, G.; Avril, J.; Simier, J.-L.: Antigens HLA d'une famille ayant une adenomatose polyendocrienne de type I. (Letter) Presse Med. 9: 1033-1034, 1980.
[0018371]8959.Jung, K. Y.; Warter, S.; Rumpler, Y.: Assignment of the GDH loci to human chromosomes 10q23 and Xq24 by in situ hybridization. Ann. Genet. 32: 109-110, 1989.
[0018372]8960.Ho, Y.; Elefant, F.; Cooke, N.; Liebhaber, S.: A defined locus control region determinant links chromatin domain acetylation with long-range gene activation. Molec. Cell 9: 291-302, 2002.
[0018373]8961.Accolla, R. S.; Gross, N.; Carrel, S.; Corte, G.: Distinct forms of both alpha and beta subunits are present in the human Ia molecular pool. Proc. Nat. Acad. Sci. 78: 4549-4551, 1981.
[0018374]8962.Haavisto, A.-M.; Pettersson, K.; Bergendahl, M.; Virkamaki, A.; Huhtaniemi, I.: Occurrence and biological properties of a common genetic variant of luteinizing hormone. J. Clin. Endocr. Metab. 80: 1257-1263, 1995.
[0018375]8963.Motyckova, G.; Weilbaecher, K. N.; Horstmann, M.; Rieman, D. J.; Fisher, D. Z.; Fisher, D. E.: Linking osteopetrosis and pycnodysostosis: regulation of cathepsin K expression by the microphthalmia transcription factor family. Proc. Nat. Acad. Sci. 98: 5798-5803, 2001.
[0018376]8964.Iida, M.; Murakami, T.; Ishida, K.; Mizuno, A.; Kuwajima, M.; Shima, K.: Substitution at codon 269 (glutamine-to-proline) of the leptin receptor (OB-R) cDNA is the only mutation found in the Zucker fatty (fa/fa) rat. Biochem. Biophys. Res. Commun. 224: 597-604, 1996.
[0018377]8965.Gonnaud, P. M.; Sturtz, F.; Fourbil, Y.; Bonnebouche, C.; Tranchant, C.; Warter, J. M.; Chazot, G.; Bady, B.; Vial, C.; Brechard, A. S.; Vandenberghe, A.: DNA analysis as a tool to confirm the diagnosis of asymptomatic hereditary neuropathy with liability to pressure palsies (HNPP) with further evidence for the occurrence of de novo mutations. Acta. Neurol. Scand. 92: 313-318, 1995.
[0018378]8966.Thomas, K. R.; Folger, K. R.; Capecchi, M. R. :Cell 44: 419-428, 1986.
[0018379]8967.Peters, D. J. M.; Spruit, L.; Saris, J. J.; Ravine, D.; Sandkuijl, L. A.; Fossdal, R.; Boersma, J.; van Eijk, R.; Norby, S.; Constantinou-Deltas, C. D.; Pierides, A.; Brissenden, J. E.; Frants, R. R.; van Ommen, G.-J. B.; Breuning, M. H.: Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease. Nature Genet. 5: 359-362, 1993.
[0018380]8968.Watanabe, K.; Kessler, C. A.; Bachurski, C. J.; Kanda, Y.; Richardson, B. D.; Stanek, J.; Handwerger, S.; Brar, A. K.: Identification of a decidua-specific enhancer on the human prolactin gene with two critical activator protein 1 (AP-1) binding sites. Molec. Endocr. 15: 638-653, 2001.
[0018381]8969.Guillon, H.; de Massy, B.: An initiation site for meiotic crossing-over and gene conversion in the mouse. Nature Genet. 32: 296-299, 2002.
[0018382]8970.Berx, G.; Cleton-Jansen, A.-M.; Nollet, F.; de Leeuw, W. J. F.; van de Vijver, M. J.; Cornelisse, C.; van Roy, F.: E-cadherin is a tumour/invasion suppressor gene mutated in human lobular breast cancers. EMBO J. 14: 6107-6115, 1995.
[0018383]8971.Haines, J. L.; Boustany, R.-M. N.; Alroy, J.; Auger, K. J.; Shook, K. S.; Terwedow, H.; Lerner, T. J.: Chromosomal localization of two genes underlying late-infantile neuronal ceroid lipofuscinosis. Neurogenetics 1: 217-222, 1998.
[0018384]8972.Hari, K. L.; Santerre, A.; Sekelsky, J. J.; McKim, K. S.; Boyd, J. B.; Hawley, R. S.: The mei-41 gene of D. melanogaster is a structural and functional homolog of the human ataxia telangiectasia gene. Cell 82: 815-821, 1995.
[0018385]8973.Krasnoshtein, F.; Buchwald, M.: Developmental expression of the Fac gene correlates with congenital defects in Fanconi anemia patients. Hum. Molec. Genet. 5: 85-93, 1996.
[0018386]8974.Hoeg, J. M.; Osborne, J. C., Jr.; Gregg, R. E.; Brewer, H. B., Jr.: Initial diagnosis of lipoprotein lipase deficiency in a 75-year-old man. Am. J. Med. 75: 889-892, 1983.
[0018387]8975.Barth, M. L.; Ward, C.; Harris, A.; Saad, A.; Fensom, A.: Frequency of arylsulphatase A pseudodeficiency associated mutations in a healthy population. J. Med. Genet. 31: 667-671, 1994.
[0018388]8976.Sander, J. E.; Malamud, N.; Cowan, M. J.; Packman, S.; Amman, A. J.; Wara, D. W.: Intermittent ataxia and immunodeficiency with multiple carboxylase deficiencies: a biotin-responsive disorder. Ann. Neurol. 8: 544-547, 1980.
[0018389]8977.Lyon, M. F.; Hulse, E. V.: An inherited kidney disease of mice resembling human nephronophthisis. J. Med. Genet. 8: 41-48, 1971.
[0018390]8978.Mitchell, G. A.; Robert, M.-F.; Hruz, P. W.; Wang, S.; Fontaine, G.; Behnke, C. E.; Mende-Mueller, L. M.; Schappert, K.; Lee, C.; Gibson, K. M.; Miziorko, H. M.: 3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL): cloning of human and chicken liver HL cDNAs and characterization of a mutation causing human HL deficiency. J. Biol. Chem. 268: 4376-4381, 1993.
[0018391]8979.Papayannis, A. G.; Israels, M. C. G.: Glanzmann's disease and trait. (Letter) Lancet II: 44 only, 1970.
[0018392]8980.Dreyer, B.; Tranebjaerg, L.; Brox, V.; Rosenberg, T.; Moller, C.; Beneyto, M.; Weston, M. D.; Kimberling, W. J.; Nilssen, O.: A common ancestral origin of the frequent and widespread 2299delG USH2A mutation. Am. J. Hum. Genet. 69: 228-234, 2001. Note: Erratum: Am. J. Hum. Genet. 69: 922 only, 2001.
[0018393]8981.Moser, H. W.: Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy. Brain 120: 1485-1508, 1997.
[0018394]8982.Batischev, A. I.; Chernyak, N. B.; Torakev, Y. N.: Detection of a new abnormal variant of glucose-6-phosphate dehydrogenase in human red cells. Bulleten Eksperimental Noi Biologii I Meditsiny 84: 728-731, 1977.
[0018395]8983.Parolini, S.; Bottino, C.; Falco, M.; Augugliaro, R.; Giliani, S.; Franceschini, R.; Ochs, H. D.; Wolf, H.; Bonnefoy, J.-Y.; Biassoni, R.; Moretta, L.; Notarangelo, L. D.; Moretta, A.: X-linked lymphoproliferative disease: 2B4 molecules displaying inhibitory rather than activating function are responsible for the inability of natural killer cells to kill Epstein-Barr virus-infected cells. J. Exp. Med. 192: 337-346, 2000.
[0018396]8984.Rosse, W. F.: Epidemiology of PNH. Lancet 348: 560 only, 1996.
[0018397]8985.Hawkins, J. R.; Taylor, A.; Goodfellow, P. N.; Migeon, C. J.; Smith, K. D.; Berkovitz, G. D.: Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis. Am. J. Hum. Genet. 51: 979-984, 1992.
[0018398]8986.Sato, T. N.; Qin, Y.; Kozak, C. A.; Audus, K. L.: tie-1 and tie-2 define another class of putative receptor tyrosine kinase genes expressed in early embryonic vascular system. Proc. Nat. Acad. Sci. 90: 9355-9358, 1993.
[0018399]8987.Phelan, C. M.; Lancaster, J. M.; Tonin, P.; Gumbs, C.; Cochran, C.; Carter, R.; Ghadirian, P.; Perret, C.; Moslehi, R.; Dion, F.; Faucher, M. C.; Dole, K.; Karimi, S.; Foulkes, W.; Lounis, H.; Warner, E.; Goss, P.; Anderson, D.; Larsson, C.; Narod, S. A.; Futreal, P. A.: Mutation analysis of the BRCA2 gene in 49 site-specific breast cancer families. Nature Genet. 13: 120-122, 1996.
[0018400]8988.Harrington, J. J.; Lieber, M. R.: The characterization of a mammalian DNA structurespecific endonuclease. EMBO J. 13: 1235-1246, 1994.
[0018401]8989.Lee, M. P.; DeBaun, M.; Randhawa, G.; Reichard, B. A.; Elledge, S. J.; Feinberg, A. P.: Low frequency of p57(KIP2) mutation in Beckwith-Wiedemann syndrome. Am. J. Hum. Genet. 61: 304-309, 1997.
[0018402]8990.Yi, T.; Cleveland, J. L.; Ihle, J. N.: Identification of novel protein tyrosine phosphatases of hematopoietic cells by polymerase chain reaction amplification. Blood 78: 2222-2228, 1991.
[0018403]8991.Amano, M.; Mukai, H.; Ono, Y.; Chihara, K.; Matsui, T.; Hamajima, Y.; Okawa, K.; Iwamatsu, A.; Kaibuchi, K.: Identification of a putative target for rho as the serine-threonine kinase protein kinase N. Science 271: 648-651, 1996.
[0018404]8992.Gorlatov, S. N.; Stadtman, T. C.: Human thioredoxin reductase from HeLa cells: selective alkylation of selenocysteine in the protein inhibits enzyme activity and reduction with NADPH influences affinity to heparin. Proc. Nat. Acad. Sci. 95: 8520-8525, 1998.
[0018405]8993.Ibraghimov-Beskrovnaya, O.; Dackowski, W. R.; Foggensteiner, L.; Coleman, N.; Thiru, S.; Petry, L. R.; Burn, T. C.; Connors, T. D.; Van Raay, T.; Bradley, J.; Qian, F.; Onuchic, L. F.; Watnick, T. J.; Piontek, K.; Hakim, R. M.; Landes, G. M.; Germino, G. G.; Sandford, R.; Klinger, K. W.: Polycystin: in vitro synthesis, in vivo tissue expression, and subcellular localization identifies a large membrane-associated protein. Proc. Nat. Acad. Sci. 94: 6397-6402, 1997.
[0018406]8994.McPherron, A. C.; Lee, S.-J.: Suppression of body fat accumulation in myostatindeficient mice. J. Clin. Invest. 109: 595-601, 2002.
[0018407]8995.Abdelhak, S.; Kalatzis, V.; Heilig, R.; Compain, S.; Samson, D.; Vincent, C.; Levi-Acobas, F.; Cruaud, C.; Le Merrer, M.; Mathieu, M.; Konig, R.; Vigneron, J.; Weissenbach, J.; Petit, C.; Weil, D. : Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. Hum. Molec. Genet. 6: 2247-2255, 1997.
[0018408]8996.Masuda, H.; Tanaka, K.; Takagi, M.; Ohgami, K.; Sakamaki, T.; Shibata, N.; Takahashi, K.: Molecular cloning and characterization of human non-smooth muscle calponin. J. Biochem. 120: 415-424, 1996.
[0018409]8997.Sarfarazi, M.; Child, A.; Stoilova, D.; Brice, G.; Desai, T.; Trifan, O. C.; Poinoosawmy, D.; Crick, R. P.: Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region. Am. J. Hum. Genet. 62: 641-652, 1998.
[0018410]8998.Vlangos, C. N.; Das, P.; Patel, P. I.; Elsea, S. H.: Assignment of developmentally regulated GTP-binding protein (DRG2) to human chromosome band 17p11.2 with somatic cell hybrids and localization to the Smith-Magenis syndrome critical interval. Cytogenet. Cell Genet. 88: 283-285, 2000.
[0018411]8999.Augustin, M.; Bamberger, C.; Paul, D.; Schmale, H.: Cloning and chromosomal mapping of the human p53-related KET gene to chromosome 3q27 and its murine homolog Ket to mouse chromosome 16. Mammalian Genome 9: 899-902, 1998.
[0018412]9000.Ohmori, M.; Ohta, M.; Shimura, H.; Shimura, Y.; Suzuki, K.; Kohn, L. D.: Cloning of the single strand DNA-binding protein important for maximal expression and thyrotropin (TSH)-induced negative regulation of the TSH receptor. Molec. Endocr. 10: 1407-1424, 1996.
[0018413]9001.Peyrard, M.: Personal Communication. Stockholm, Sweden 1/7/1999.
[0018414]9002.Ware, F. E.; Lehrman, M. A.: Expression cloning of a novel suppressor of the Lec15 and Lec35 glycosylation mutations of Chinese hamster ovary cells. J. Biol. Chem. 271: 13935-13938, 1996.
[0018415]9003.Boehm, J.; Orth, T.; Van Nguyen, P.; Soling, H. D.: Systemic lupus erythematosus is associated with increased auto-antibody titers against calreticulin and grp94, but calreticulin is not the Ro/SS-A antigen. Europ. J. Clin. Invest. 24: 248-257, 1994.
[0018416]9004.Burns, K.; Duggan, B.; Atkinson, E. A.; Famulski, K. S.; Nemer, M.; Bleackley, R. C.; Michalak, M.: Modulation of gene expression by calreticulin binding to the glucocorticoid receptor. Nature 367: 476-480, 1994.
[0018417]9005.Telen, M. J.; Whitsett, C. F.: Erythrocyte acetylcholinesterase bears the Cartwright blood group antigens. (Abstract) Clin. Res. 40: 170A only, 1992.
[0018418]9006.David, G.; Terris, B.; Marchio, A.; Lavau, C.; Dejean, A.: The acute promyelocytic leukemia PML-RAR-alpha protein induces hepatic preneoplastic and neoplastic lesions in transgenic mice. Oncogene 14: 1547-1554, 1997.
[0018419]9007.Wjst, M.; Fischer, G.; Immervoll, T.; Jung, M.; Saar, K.; Rueschendorf, F.; Reis, A.; Ulbrecht, M.; Gomolka, M.; Weiss, E. H.; Jaeger, L.; Nickel, R.; and 14 others: A genome-wide search for linkage to asthma. Genomics 58: 1-8, 1999.
[0018420]9008.Kalachikov, S.; Evgrafov, O.; Ross, B.; Winawer, M.; Barker-Cummings, C.; Boneschi, F. M.; Choi, C.; Morozov, P.; Das, K.; Teplitskaya, E.; Yu, A.; Cayanis, E.; Penchaszadeh, G.; Kottmann, A. H.; Pedley, T. A.; Hauser, W. A.; Ottman, R.; Gilliam, T. C.: Mutations in LGI1 cause autosomaldominant partial epilepsy with auditory features. Nature Genet. 30: 335-341, 2002.
[0018421]9009.Dezateux, C. A.; Hyde, J. C.; Hoey, H. M. C. V.; O'Riordan, J. L. H.; Spitz, L.; Taylor, G. W.; Grant, D. B.: Neonatal hyperparathyroidism. Europ. J. Pediat. 142: 135-136, 1984.
[0018422]9010.Gordon, M. S.; Kato, R. M.; Lansigan, F.; Thompson, A. A.; Wall, R.; Rawlings, D. J.: Aberrant B cell receptor signaling from B29 (Ig-beta, CD79b) gene mutations of chronic lymphocytic leukemia B cells. Proc. Nat. Acad. Sci. 97: 5504-5509, 2000.
[0018423]9011.de Sousa, M.; Reimao, R.; Lacerda, R.; Hugo, P.; Kaufmann, S. H. E.; Porto, G.: Iron overload in beta-2-microglobulin-deficient mice. Immun. Lett. 39: 105-111, 1994.
[0018424]9012.Morissette, J.; Rheaume, E.; Leblanc, J.-F.; Luu-The, V.; Labrie, F.; Simard, J.: Genetic linkage mapping of HSD3B1 and HSD3B2 encoding human types I and II 3-beta-hydroxysteroid dehydrogenase/delta-5-delta-4-isomerase close to D1S514 and the centromeric D1Z5 locus. Cytogenet. Cell Genet. 69: 59-62, 1995.
[0018425]9013.Morrison, N.; Nickson, D. A.; McBride, M. W.; Mueller, U. W.; Boyd, E.; Sutcliffe, R. G.: Regional chromosomal assignment of human 3-beta-hydroxy-5-ene steroid dehydrogenase to 1p13.1 by non-isotopic in situ hybridisation. Hum. Genet. 87: 223-225, 1991.
[0018426]9014.Gallione, C. J.; Pasyk, K. A.; Boon, L. M.; Lennon, F.; Johnson, D. W.; Helmbold, E. A.; Markel, D. S.; Vikkula, M.; Mulliken, J. B.; Warman, M. L.; Pericak-Vance, M. A.; Marchuk, D. A.: A gene for familial venous malformations maps to chromosome 9p in a second large kindred. J. Med. Genet. 32: 197-199, 1995.
[0018427]9015.Chini, B.; Clementi, F.; Hukovic, N.; Sher, E.: Neuronal-type alpha-bungarotoxin receptors and the alpha-5-nicotinic receptor subunit gene are expressed in neuronal and nonneuronal human cell lines. Hum. Genet. 89: 1572-1576, 1992.
[0018428]9016.Kumar, B. V.; Aleman-Gomez, J. A.; Colwell, N.; Lopez-Candales, A.; Bosner, M. S.; Spilburg, C. A.; Lowe, M.; Lange, L. G.: Structure of the human pancreatic cholesterol esterase gene. Biochemistry 31: 6077-6081, 1992.
[0018429]9017.Lidberg, U.; Nilsson, J.; Stromberg, K.; Stenman, G.; Sahlin, P.; Enerback, S.; Bjursell, G.: Genomic organization, sequence analysis, and chromosomal localization of the human carboxyl ester lipase (CEL) gene and a CEL-like (CELL) gene. Genomics 13: 630-640, 1992.
[0018430]9018.Galland, F.; Stefanova, M.; Pirisi, V.; Birnbaum, D.: Characterization of a murine glyceraldehyde-3-phosphate dehydrogenase pseudogene. Biochimie 72: 759-762, 1990.
[0018431]9019.Lidmer, A.-S.; Kannius, M.; Lundberg, L.; Bjursell, G.; Nilsson, J.: Molecular cloning and characterization of the mouse carboxyl ester lipase gene and evidence for expression in the lactating mammary gland. Genomics 29: 115-122, 1995.
[0018432]9020.Nilsson, J.; Hellquist, M.; Bjursell, G.: The human carboxyl ester lipase-like (CELL) gene is ubiquitously expressed and contains a hypervariable region. Genomics 17: 416-422, 1993.
[0018433]9021.Taylor, A. K.; Zambaux, J. L.; Klisak, I.; Mohandas, T.; Sparkes, R. S.; Schotz, M. C.; Lusis, A. J.: Carboxyl-ester lipase: a highly polymorphic locus on chromosome 9qter. Genomics 10: 425-431, 1991.
[0018434]9022.Vanin, E. F.: Processed pseudogenes: characteristics and evolution. Annu. Rev. Genet. 19: 253-272, 1985.
[0018435]9023.Klewer, S. E.; Krob, S. L.; Kolker, S. J.; Kitten, G. T.: Expression of type VI collagen in the developing mouse heart. :Dev. Dyn. 211: 248-255, 1998.
[0018436]9024.Lamande, S. R.; Bateman, J. F.; Hutchison, W.; McKinlay Gardner, R. J.; Bower, S. P.; Byrne, E.; Dahl, H.-H. M.: Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency. Hum. Molec. Genet. 7: 981-989, 1998.
[0018437]9025.Murata, K.; Motoyama, T.; Suka, M.; Ohno, M.; Kuboki, Y.: High production of type VI collagen in multiple fibromatosis with multiple articular dysplasia. Biochem. Biophys. Res. Commun. 147: 275-281, 1987.
[0018438]9026.Pepe, G.; Giusti, B.; Bertini, E.; Brunelli, T.; Saitta, B.; Comeglio, P.; Bolognese, A.; Merlini, L.; Federici, G.; Abbate, R.; Chu, M.-L. : A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha-1(VI) collagen chain in an Italian family affected by Bethlem myopathy. Biochem. Biophys. Res. Commun. 258: 802-807, 1999.
[0018439]9027.Roest, P. A. M.; Roberts, R. G.; Sugino, S.; van Ommen, G.-J. B.; den Dunnen, J. T.: Protein truncation test (PTT) for rapid detection of translation-terminating mutations. Hum. Molec. Genet. 2: 1719-1721, 1993.
[0018440]9028.Scacheri, P. C.; Gillanders, E. M.; Subramony, S. H.; Vedanarayanan, V.; Crowe, C. A.; Thakore, N.; Bingler, M.; Hoffman, E. P.: Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. Neurology 58: 593-602, 2002.
[0018441]9029.Avramopoulos, D.; Cox, T.; Forrest, G. L.; Chakravarti, A.; Antonarakis, S. E.: Linkage mapping of the carbonyl reductase (CBR) gene on human chromosome 21 using a DNA polymorphism in the 3-prime untranslated region. Genomics 13: 447-448, 1992.
[0018442]9030.Forrest, G. L.; Akman, S.; Krutzik, S.; Paxton, R. J.; Sparkes, R. S.; Doroshow, J.; Felsted, R. L.; Glover, C. J.; Mohandas, T.; Bachur, N. R.: Induction of a human carbonyl reductase gene located on chromosome 21. Biochim. Biophys. Acta 1048: 149-155, 1990.
[0018443]9031.Lemieux, N.; Malfoy, B.; Forrest, G. L.: Human carbonyl reductase (CBR) localized to band 21q22.1 by high-resolution fluorescence in situ hybridization displays gene dosage effects in trisomy 21 cells. Genomics 15: 169-172, 1993.
[0018444]9032.Watanabe, K.; Sugawara, C.; Ono, A.; Fukuzumi, Y.; Itakura, S.; Yamazaki, M.; Tashiro, H.; Osoegawa, K.; Soeda, E.; Nomura, T.: Mapping of a novel human carbonyl reductase, CBR3, and ribosomal pseudogenes to human chromosome 21q22.2. Genomics 52: 95-100, 1998.
[0018445]9033.Wei, J.; Dlouhy, S. R.; Hara, A.; Ghetti, B.; Hodes, M. E.: Cloning a cDNA for carbonyl reductase (Cbr) from mouse cerebellum: murine genes that express Cbr map to chromosomes 16 and 11. Genomics 34: 147-148, 1996.
[0018446]9034.Wermuth, B.; Bohren, K. M.; Heinemann, G.; von Wartburg, J.-P.; Gabbay, K. H.: Human carbonyl reductase: nucleotide sequence analysis of a cDNA and amino acid sequence of the encoded protein. J. Biol. Chem. 263: 16185-16188, 1988.
[0018447]9035.Lowe, D. G.; Klisak, I.; Sparkes, R. S.; Mohandas, T.; Goeddel, D. V.: Chromosomal distribution of three members of the human natriuretic peptide receptor/guanylyl cyclase gene family. Genomics 8: 304-312, 1990.
[0018448]9036.Morgan, D.; Diamond, D. M.; Gottschall, P. E.; Ugen, K. E.; Dickey, C.; Hardy, J.; Duff, K.; Jantzen, P.; DiCarlo, G.; Wilcock, D.; Connor, K.; Hatcher, J.; Hope, C.; Gordon, M.; Arendash, G. W.: A-beta peptide vaccination prevents memory loss in an animal model of Alzheimer's disease. Nature 408: 982-985, 2000.
[0018449]9037.Mullan, M.; Crawford, F.; Axelman, K.; Houlden, H.; Lilius, L.; Winblad, B.; Lannfelt, L. :Nature Genet. 1: 345-349, 1992.
[0018450]9038.Mullan, M.; Crawford, F.; Axelman, K.; Houlden, H.; Lilius, L.; Winblad, B.; Lannfelt, L.: A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of betaamyloid. Nature Genet. 1: 345-347, 1992.
[0018451]9039.Multhaup, G.; Schlicksupp, A.; Hesse, L.; Beher, D.; Ruppert, T.; Masters, C. L.; Beyreuther, K.: The amyloid precursor protein of Alzheimer's disease in the reduction of copper(II) to copper (I). Science 271: 1406-1409, 1996.
[0018452]9040.Murrell, J.; Farlow, M.; Ghetti, B.; Benson, M. D.: A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease. Science 254: 97-99, 1991.
[0018453]9041.Naruse, S.; Igarashi, S.; Kobayashi, H.; Aoki, K.; Inuzuka, T.; Kaneko, K.; Shimizu, T.; Iihara, K.; Kojima, T.; Miyatake, T.; Tsuji, S.: Mis-sense mutation val-to-ile in exon 17 of amyloid precursor protein gene in Japanese familial Alzheimer's disease.(Letter) Lancet 337: 978-979, 1991.
[0018454]9042.Natte, R.; Maat-Schieman, M. L. C.; Haan, J.; Bornebroek, M.; Roos, R. A. C.; van Duinen, S. G.: Dementia in hereditary cerebral hemorrhage with amyloidosis-Dutch type is associated with cerebral amyloid angiopathy but is independent of plaques and neurofibrillary tangles. Ann. Neurol. 50: 765-772, 2001.
[0018455]9043.Olson, J. M.; Goddard, K. A. B.; Dudek, D. M.: A second locus for very-late-onset Alzheimer disease: a genome scan reveals linkage to 20p and epistasis between 20p and the amyloid precursor protein region. Am. J. Hum. Genet. 71: 154-161, 2002.
[0018456]9044.Olson, J. M.; Goddard, K. A. B.; Dudek, D. M.: The amyloid precursor protein locus and very-late-onset Alzheimer disease. Am. J. Hum. Genet. 69: 895-899, 2001.
[0018457]9045.Patterson, D.; Gardiner, K.; Kao, F.-T.; Tanzi, R.; Watkins, P.; Gusella, J. F.: Mapping of the gene encoding the beta-amyloid precursor protein and its relationship to the Down syndrome region of chromosome 21. Proc. Nat. Acad. Sci. 85: 8266-8270, 1988.
[0018458]9046.Peacock, M. L.; Murman, D. L.; Sima, A. A. F.; Warren, J. T., Jr.; Roses, A. D.; Fink, J. K.: Novel amyloid precursor protein gene mutation (codon 665asp) in a patient with late-onset Alzheimer disease. Ann. Neurol. 35: 432-438, 1994.
[0018459]9047.Prelli, F.; Levy, E.; van Duinen, S. G.; Bots, G. T. A. M.; Luyendijk, W.; Frangione, B.: Expression of a normal and variant Alzheimer's beta-protein gene in amyloid of hereditary cerebral hemorrhage, Dutch type: DNA and protein diagnostic assays. Biochem. Biophys. Res. Commun. 170: 301-307, 1990.
[0018460]9048.Robakis, N. K.; Ramakrishna, N.; Wolfe, G.; Wisniewski, H. M. : Molecular cloning and characterization of a cDNA encoding the cerebrovascular and the neuritic plaque amyloid peptides. Proc. Nat. Acad. Sci. 84: 4190-4194, 1987.
[0018461]9049.Robakis, N. K.; Wisniewski, H. M.; Jenkins, E. C.; Devine-Gage, E. A.; Houck, G. E.; Yao, X.-L.; Ramakrishna, N.; Wolfe, G.; Silverman, W. P.; Brown, W. T.: Chromosome 21q21 sublocalisation of gene encoding beta-amyloid peptide in cerebral vessels and neuritic (senile) plaques of people with Alzheimer disease and Down syndrome.(Letter) Lancet I: 384-385, 1987.
[0018462]9050.Sandbrink, R.; Masters, C. L.; Beyreuther, K.: Beta A4-amyloid protein precursor mRNA isoforms without exon 15 are ubiquitously expressed in rat tissues including brain, but not in neurons. J. Biol. Chem. 269: 1510-1517, 1994.
[0018463]9051.Schellenberg, G. D.; Anderson, L.; O'dahl, S.; Wisjman, E. M.; Sadovnick, A. D.; Ball, M. J.; Larson, E. B.; Kukull, W. A.; Martin, G. M.; Roses, A. D.; Bird, T. D.: APP(717), APP(693), and PRIP gene mutations are rare in Alzheimer disease. Am. J. Hum. Genet. 49: 511-517, 1991.
[0018464]9052.Schenk, D.; Barbour, R.; Dunn, W.; Gordon, G.; Grajeda, H.; Guido, T.; Hu, K.; Huang, J.; Johnson-Wood, K.; Khan, K.; Kholodenko, D.; Lee, M.; and 13 others: Immunization with amyloidbeta attenuates Alzheimer-disease-like pathology in the PDAPP mouse. Nature 400: 173-177, 1999.
[0018465]9053.Schmaier, A. H.; Dahl, L. D.; Rozemuller, A. J. M.; Roos, R. A. C.; Wagner, S. L.; Chung, R.; Van Nostrand, W. E.: Protease nexin-2/amyloid-beta protein precursor: a tight-binding inhibitor of coagulation factor IXa. J. Clin. Invest. 92: 2540-2545, 1993.
[0018466]9054.Senior, K.: Alzheimer's and prion disease: do they share a pathogenic mechanism? Lancet 355: 1434 only, 2000.
[0018467]9055.Sisodia, S. S.; Gallagher, M.: A role for the beta-amyloid precursor protein in memory? Proc. Nat. Acad. Sci. 95: 12074-12076, 1998.
[0018468]9056.Smith, R. P.; Higuchi, D. A.; Broze, G. J., Jr.: Platelet coagulation factor XI(a)-inhibitor: a form of Alzheimer amyloid precursor protein. Science 248: 1126-1128, 1990.
[0018469]9057.St. George-Hyslop, P.; Crapper McLachlan, D.; Tuda, T.; Rogaev, E.: Alzheimer's disease and possible gene interaction.(Letter) Science 263: 537 only, 1994.
[0018470]9058.Sturchler-Pierrat, C.; Abramowski, D.; Duke, M.; Wiederhold, K.-H.; Mistl, C.; Rothacher, S.; Ledermann, B.; Burki, K.; Frey, P.; Paganetti, P. A.; Waridel, C.; Calhoun, M. E.; Jucker, M.; Probst, A.; Staufenbiel, M.; Sommer, B.: Two amyloid precursor protein transgenic mouse models with Alzheimer disease-like pathology. Proc. Nat. Acad. Sci. 94: 13287-13292, 1997.
[0018471]9059.Sugarman, M. C.; Yamasaki, T. R.; Oddo, S.; Echegoyen, J. C.; Murphy, M. P.; Golde, T. E.; Jannatipour, M.; Leissring, M. A.; LaFerla, F. M.: Inclusion body myositis-like phenotype induced by transgenic overexpression of beta-APP in skeletal muscle. Proc. Nat. Acad. Sci. 99: 6334-6339, 2002.
[0018472]9060.Suzuki, N.; Cheung, T. T.; Cai, X.-D.; Odaka, A.; Otvos, L., Jr.; Eckman, C.; Golde, T. E.; Younkin, S. G.: An increased percentage of long amyloid beta protein secreted by familial amyloid beta protein precursor (beta-APP-717) mutants. Science 264: 1336-1340, 1994.
[0018473]9061.Tang, M. X.; Jacobs, D.; Stern, Y.; Marder, K.; Schofield, P.; Gurland, B.; Andrews, H.; Mayeux, R.: Effect of oestrogen during menopause on risk and age of onset of Alzheimer's disease. Lancet 348: 429-432, 1996.
[0018474]9062.AbdAlla, S.; Lother, H.; Quitterer, U.: AT(1)-receptor heterodimers show enhanced Gprotein activation and altered receptor sequestration. Nature 407: 94-98, 2000.
[0018475]9063.Bergsma, D. J.; Ellis, C.; Kumar, C.; Nuthulaganti, P.; Kersten, H.; Elshourbagy, N.; Griffin, E.; Stadel, J. M.; Aiyar, N.: Cloning and characterization of a human angiotensin II type 1 receptor. Biochem. Biophys. Res. Commun. 183: 989-995, 1992.
[0018476]9064.Bonnardeaux, A.; Davies, E.; Jeunemaitre, X.; Fery, I.; Charru, A.; Clauser, E.; Tiret, L.; Cambien, F.; Corvol, P.; Soubrier, F. : Angiotensin II type 1 receptor gene polymorphisms in human essential hypertension. Hypertension 24: 63-69, 1994.
[0018477]9065.Curnow, K. M.; Pascoe, L.; White, P. C.: Genetic analysis of the human type-1 angiotensin II receptor. Molec. Endocr. 6: 1113-1118, 1992.
[0018478]9066.Elton, T. S.; Stephan, C. C.; Taylor, G. R.; Kimball, M. G.; Martin, M. M.; Durand, J. N.; Oparil, S.: Isolation of two distinct type I angiotensin II receptor genes. Biochem. Biophys. Res. Commun. 184: 1067-1073, 1992.
[0018479]9067.Furuta, H.; Guo, D.-F.; Inagami, T.: Molecular cloning and sequencing of the gene encoding human angiotensin II type 1 receptor. Biochem. Biophys. Res. Commun. 183: 8-13, 1992.
[0018480]9068.Gemmill, R. M.; Drabkin, H. A.: Report of The Second International Workshop on Human Chromosome 3 Mapping. Cytogenet. Cell Genet. 57: 162-166, 1991.
[0018481]9069.Guo, D.-F.; Furuta, H.; Mizukoshi, M.; Inagami, T.: The genomic organization of human angiotensin II type 1 receptor. Biochem. Biophys. Res. Commun. 200: 313-319, 1994.
[0018482]9070.Harada, K.; Komuro, I.; Hayashi, D.; Sugaya, T.; Murakami, K.; Yazaki, Y.: Angiotensin II type 1a receptor is involved in the occurrence of reperfusion arrhythmias. Circulation 97: 315-317, 1998.
[0018483]9071.Haywood, G. A.; Gullestad, L.; Katsuya, T.; Hutchinson, H. G.; Pratt, R. E.; Horiuchi, M.; Fowler, M. B.: AT(1) and AT(2) angiotensin receptor gene expression in human heart failure. Circulation 95: 1201-1206, 1997.
[0018484]9072.Herzig, T. C.; Jobe, S. M.; Aoki, H.; Molkentin, J. D.; Cowley, A. W., Jr.; Izumo, S.; Markham, B. E.: Angiotensin II type-1a receptor gene expression in the heart: AP-1 and GATA-4 participate in the response to pressure overload. Proc. Nat. Acad. Sci. 94: 7543-7548, 1997.
[0018485]9073.Ito, M.; Oliverio, M. I.; Mannon, P. J.; Best, C. F.; Maeda, N.; Smithies, O.; Coffman, T. M.: Regulation of blood pressure by type 1A angiotensin II receptor gene. Proc. Nat. Acad. Sci. 92: 3521-3525, 1995.
[0018486]9074.Iyer, S. N.; Lu, D.; Katovich, M. J.; Raizada, M. K.: Chronic control of high blood pressure in the spontaneously hypertensive rat by delivery of angiotensin type 1 receptor antisense. Proc. Nat. Acad. Sci. 93: 9960-9965, 1996.
[0018487]9075.Konishi, H.; Kuroda, S.; Inada, Y.; Fujisawa, Y.: Novel subtype of human angiotensin II type 1 receptor: cDNA cloning and expression. Biochem. Biophys. Res. Commun. 199: 467-474, 1994.
[0018488]9076.Martens, J. R.; Reaves, P. Y.; Lu, D.; Katovich, M. J.; Berecek, K. H.; Bishop, S. P.; Raizada, M. K.; Gelband, C. H.: Prevention of renovascular and cardiac pathophysiological changes in hypertension by angiotensin II type 1 receptor antisense gene therapy. Proc. Nat. Acad. Sci. 95: 2664-2669, 1998.
[0018489]9077.Martin, M. M.; Willardson, B. M.; Burton, G. F.; White, C. R.; McLaughlin, J. N.; Bray, S. M.; Ogilvie, J. W., Jr.; Elton, T. S. : Human angiotensin II type 1 receptor isoforms encoded by messenger RNA splice variants are functionally distinct. Molec. Endocr. 15: 281-293, 2001.
[0018490]9078.Mauzy, C. A.; Hwang, O.; Egloff, A. M.; Wu, L.-H.; Chung, F.-Z. : Cloning, expression, and characterization of a gene encoding the human angiotensin II type 1A receptor. Biochem. Biophys. Res. Commun. 186: 277-284, 1992.
[0018491]9079.Murphy, T. J.; Alexander, R. W.; Griendling, K. K.; Runge, M. S.; Bernstein, K. E.: Isolation of a cDNA encoding the vascular type-1 angiotensin II receptor. Nature 351: 233-236, 1991.
[0018492]9080.Paradis, P.; Dali-Youcef, N.; Paradis, F. W.; Thibault, G.; Nemer, M.: Overexpression of angiotensin II type I receptor in cardiomyocytes induces cardiac hypertrophy and remodeling. Proc. Nat. Acad. Sci. 97: 931-936, 2000.
[0018493]9081.Sasaki, K.; Murohara, T.; Ikeda, H.; Sugaya, T.; Shimada, T.; Shintani, S.; Imaizumi, T.: Evidence for the importance of angiotensin II type 1 receptor in ischemia-induced angiogenesis. J. Clin. Invest. 109: 603-611, 2002.
[0018494]9082.Oliverio, M. I.; Kim, H-S.; Ito, M.; Le, T.; Audoly, L.; Best, C. F.; Hiller, S.; Kluckman, K.; Maeda, N.; Smithies, O.; Coffman, T. M.: Reduced growth, abnormal kidney structure, and type 2 (AT2) angiotensin receptor-mediated blood pressure regulation in mice lacking both AT1A and AT1B receptors for angiotensin II. Proc. Nat. Acad. Sci. 95: 15496-15501, 1998.
[0018495]9083.Sasaki, K.; Yamano, Y.; Bardhan, S.; Iwai, N.; Murray, J. J.; Hasegawa, M.; Matsuda, Y.; Inagami, T.: Cloning and expression of a complementary DNA encoding a bovine adrenal angiotensin II type-1 receptor. Nature 351: 230-233, 1991.
[0018496]9084.Scott, A. F.: Personal Communication. Baltimore, Md. 3/20/2001.
[0018497]9085.Szpirer, C.; Riviere, M.; Szpirer, J.; Levan, G.; Guo, D. F.; Iwai, N.; Inagami, T.: Chromosomal assignment of human and rat hypertension candidate genes: type 1 angiotensin II receptor genes and the SA gene. J. Hypertension 11: 919-925, 1993.
[0018498]9086.Takayanagi, R.; Ohnaka, K.; Sakai, Y.; Nakao, R.; Yanase, T.; Haji, M.; Inagami, T.; Furuta, H.; Gou, D.-F.; Nakamuta, M.; Nawata, H.: Molecular cloning, sequence analysis and expression of a cDNA encoding human type-1 angiotensin II receptor. Biochem. Biophys. Res. Commun. 183: 910-916, 1992.
[0018499]9087.Tsuchida, S.; Matsusaka, T.; Chen, X.; Okubo, S.; Niimura, F.; Nishimura, H.; Fogo, A.; Utsunomiya, H.; Inagami, T.; Ichikawa, I. : Murine double nullizygotes of the angiotensin type 1A and 1B receptor genes duplicate severe abnormal phenotypes of angiotensinogen nullizygotes. J. Clin. Invest. 101: 755-760, 1998.
[0018500]9088.Erba, H. P.; Eddy, R.; Shows, T.; Kedes, L.; Gunning, P.: Structure, chromosome location, and expression of the human gamma-actin gene: differential evolution, location, and expression of the cytoskeletal beta- and gamma-actin genes. Molec. Cell. Biol. 8: 1775-1789, 1988.
[0018501]9089.Ueyama, H.; Inazawa, J.; Nishino, H.; Ohkubo, I.; Miwa, T.: FISH localization of human cytoplasmic actin genes ACTB to 7p22 and ACTG1 to 17q25 and characterization of related pseudogenes. Cytogenet. Cell Genet. 74: 221-224, 1996.
[0018502]9090.Beggs, A. H.; Byers, T. J.; Knoll, J. H. M.; Boyce, F. M.; Bruns, G. A. P.; Kunkel, L. M.: Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11. J. Biol. Chem. 267: 9281-9288, 1992.
[0018503]9091.Beggs, A. H.; Phillips, H. A.; Kozman, H.; Mulley, J. C.; Wilton, S. D.; Kunkel, L. M.; Laing, N. G.: A (CA)n repeat polymorphism for the human skeletal muscle alpha-actinin gene ACTN2 and its localization on the linkage map of chromosome 1. Genomics 13: 1314-1315, 1992.
[0018504]9092.Mills, M. A.; Yang, N.; Weinberger, R. P.; Vander Woude, D. L.; Beggs, A. H.; Easteal, S.; North, K. N.: Differential expression of the actin-binding proteins, alpha-actinin-2 and -3, in different species: implications for the evolution of functional redundancy. Hum. Molec. Genet. 10: 1335-1346, 2001.
[0018505]9093.Youssoufian, H.; McAfee, M.; Kwiatkowski, D. J.: Cloning and chromosomal localization of the human cytoskeletal alpha-actinin gene reveals linkage to the beta-spectrin gene. Am. J. Hum. Genet. 47: 62-72, 1990.
[0018506]9094.Attisano, L.; Carcamo, J.; Ventura, F.; Weis, F. M. B.; Massague, J.; Wrana, J. L.: Identification of human activin and TGF-beta type I receptors that form heteromeric kinase complexes with type II receptors. Cell 75: 671-680, 1993.
[0018507]9095.Mathews, L. S.; Vale, W. W.: Expression cloning of an activin receptor, a predicted transmembrane serine kinase. Cell 65: 973-982, 1991.
[0018508]9096.Matsuzaki, K.; Xu, J.; Wang, F.; McKeehan, W. L.; Krummen, L.; Kan, M.: A widely expressed transmembrane serine/threonine kinase that does not bind activin, inhibin, transforming growth factor beta, or bone morphogenic factor. J. Biol. Chem. 268: 12719-12723, 1993.
[0018509]9097.Roijer, E.; Miyazono, K.; Astrom, A.-K.; Geurts van Kessel, A.; ten Dijke, P.; Stenman, G.: Chromosomal localization of three human genes encoding members of the TGF-beta superfamily of type I serine/threonine kinase receptors. Mammalian Genome 9: 266-268, 1998.
[0018510]9098.ten Dijke, P.; Ichijo, H.; Franzen, P.; Schulz, P.; Saras, J.; Toyoshima, H.; Heldin, C.-H.; Miyazono, K.: Activin receptor-like kinases: a novel subclass of cell-surface receptors with predicted serine/threonine kinase activity. Oncogene 8: 2879-2887, 1993.
[0018511]9099.Chen, M.; Pan, Z.-Q.; Hurwitz, J.: Studies of the cloned 37-kDa subunit of activator 1 (replication factor C) of HeLa cells. Proc. Nat. Acad. Sci. 89: 5211-5215, 1992.
[0018512]9100.Alcalay, M.; Zangrilli, D.; Fagioli, M.; Pandolfi, P. P.; Mencarelli, A.; Lo Coco, F.; Biondi, A.; Grignani, F.; Pelicci, P. G.: Expression pattern of the RAR-alpha-PML fusion gene in acute promyelocytic leukemia. Proc. Nat. Acad. Sci. 89: 4840-4844, 1992.
[0018513]9101.Brown, D.; Kogan, S.; Lagasse, E.; Weissman, I.; Alcalay, M.; Pelicci, P. G.; Atwater, S.; Bishop, J. M.: A PMLRAR-alpha transgene initiates murine acute promyelocytic leukemia. Proc. Nat. Acad. Sci. 94: 2551-2556, 1997.
[0018514]9102.Chang, K.-S.; Fan, Y.-H.; Andreeff, M.; Liu, J.; Mu, Z.-M.: The PML gene encodes a phosphoprotein associated with the nuclear matrix. Blood 85: 3646-3653, 1995.
[0018515]9103.Cleary, M. L.: Oncogenic conversion of transcription factors by chromosomal translocations. Cell 66: 619-622, 1991.
[0018516]9104.Jonkman, M. F.: Revertant mosaicism in human genetic disorders. Am. J. Med. Genet. 85: 361-364, 1999.
[0018517]9105.Jonkman, M. F.; de Jong, M. C. J. M.; Heeres, K.; Pas, H. H.; van der Meer, J. B.; Owaribe, K.; Martinez de Velasco, A. M.; Niessen, C. M.; Sonnenberg, A.: 180-kD bullous pemphigoid antigen (BP180) is deficient in generalized atrophic benign epidermolysis bullosa. J. Clin. Invest. 95: 1345-1352, 1995.
[0018518]9106.Jonkman, M. F.; De Jong, M. C. J. M.; Heeres, K.; Steijlen, P. M.; Owaribe, K.; Kuster, W.; Meurer, M.; Gedde-Dahl, T., Jr.; Sonnenberg, A.; Bruckner-Tuderman, L.: Generalized atrophic benign epidermolysis bullosa: either 180-kd bullous pemphigoid antigen or laminin-5 deficiency. Arch. Derm. 132: 145-150, 1996.
[0018519]9107.Li, K.; Sawamura, D.; Giudice, G. J.; Diaz, L. A.; Mattei, M.-G.; Chu, M.-L.; Uitto, J.: Genomic organization of collagenous domains and chromosomal assignment of human 180-kDa bullous pemphigoid antigen-2, a novel collagen of stratified squamous epithelium. J. Biol. Chem. 266: 24064-24069, 1991.
[0018520]9108.Li, K.; Tamai, K.; Tan, E. M. L.; Uitto, J.: Cloning of type XVII collagen: complementary and genomic sequences of mouse 180-kDa bullous pemphigoid antigen (BPAG2) predict an interrupted collagenous domain, a transmembranous segment, and unusual features in the 5-prime end of the gene and the 3-prime-untranslated region of the mRNA. J. Biol. Chem. 268: 8825-8834, 1993.
[0018521]9109.Sawamura, D.; Li, K.; Nomura, K.; Sugita, Y.; Christiano, A. M.; Uitto, J.: Bullous pemphigoid antigen: cDNA cloning, cellular expression, and evidence for polymorphism of the human gene. J. Invest. Derm. 96: 908-915, 1991.
[0018522]9110.Sawamura, D.; Li, K.; Uitto, J.: 230-kD and 180-kD bullous pemphigoid antigens are distinct gene products. (Letter) J. Invest. Derm. 98: 942-943, 1992.
[0018523]9111.Schacke, H.; Schumann, H.; Hammami-Hauasli, N.; Raghunath, M.; Bruckner-Tuderman, L.: Two forms of collagen XVII in keratinocytes. A full-length transmembrane protein and a soluble ectodomain. J. Biol. Chem. 273: 25937-25943, 1998.
[0018524]9112.Schumann, H.; Hammami-Hauasli, N.; Pulkkinen, L.; Mauviel, A.; Kuster, W.; Luthi, U.; Owaribe, K.; Uitto, J.; Bruckner-Tuderman, L.: Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosa. Am. J. Hum. Genet. 60: 1344-1353, 1997.
[0018525]9113.Tasanen, K.; Eble, J. A.; Aumailley, M.; Schumann, H.; Baetge, J.; Tu, H.; Bruckner, P.; Bruckner-Tuderman, L.: Collagen XVII is destabilized by a glycine substitution mutation in the cell adhesion domain Col15. J. Biol. Chem. 275: 3093-3099, 2000.
[0018526]9114.Tasanen, K.; Floeth, M.; Schumann, H.; Bruckner-Tuderman, L.: Hemizygosity for a glycine substitution in collagen XVII: unfolding and degradation of the ectodomain. J. Invest. Derm. 115: 207-212, 2000.
[0018527]9115.Wahn, V.; Stephan, V.; Hirschhorn, R.: Reverse mutations--spontaneous amelioration or cure of inherited disorders? Europ. J. Pediat. 157: 613-617, 1998.
[0018528]9116.Youssoufian, H.: Natural gene therapy and the Darwinian legacy. Nature Genet. 13: 255-256, 1996.
[0018529]9117.Buettner, R.; Schaffler, A.; Arndt, H.; Rogler, G.; Nusser, J.; Zietz, B.; Enger, I.; Hugl, S.; Cuk, A.; Scholmerich, J.; Palitzsch, K.-D.: The trp64arg polymorphism of the beta-3-adrenergic receptor gene is not associated with obesity or type 2 diabetes mellitus in a large population-based Caucasian cohort. J. Clin. Endocr. Metab. 83: 2892-2897, 1998.
[0018530]9118.Clement, K.; Vaisse, C.; Manning, B. S. J.; Basdevant, A.; Guy-Grand, B.; Ruiz, J.; Silver, K. D.; Shuldiner, A. R.; Froguel, P.; Strosberg, A. D.: Genetic variation in the beta-3-adrenergic receptor and an increased capacity to gain weight in patients with morbid obesity. New Eng. J. Med. 333: 352-354, 1995.
[0018531]9119.Elbein, S. C.; Hoffman, M.; Barrett, K.; Wegner, K.; Miles, C.; Bachman, K.; Berkowitz, D.; Shuldiner, A. R.; Leppert, M. F.; Hasstedt, S.: Role of the beta-3-adrenergic receptor locus in obesity and noninsulin-dependent diabetes among members of Caucasian families with a diabetic sibling pair. J. Clin. Endocr. Metab. 81: 4422-4427, 1996.
[0018532]9120.Emorine, L. J.; Marullo, S.; Briend-Sutren, M.-M.; Patey, G.; Tate, K.; Delavier-Klutchko, C.; Strosberg, A. D.: Molecular characterization of the human beta-3-adrenergic receptor. Science 245: 1118-1121, 1989.
[0018533]9121.Festa, A.; Krugluger, W.; Shnawa, N.; Hopmeier, P.; Haffner, S. M.; Schernthaner, G.: Trp64Arg polymorphism of the beta-3-adrenergic receptor gene in pregnancy: association with mild gestational diabetes mellitus. J. Clin. Endocr. Metab. 84: 1695-1699, 1999.
[0018534]9122.Gagnon, J.; Mauriege, P.; Roy, S.; Sjostrom, D.; Chagnon, Y. C.; Dionne, F. T.; Oppert, J.-M.; Perusse, L.; Sjostrom, L.; Bouchard, C.: The trp64arg mutation of the beta-3 adrenergic receptor gene has no effect on obesity phenotypes in the Quebec Family Study and Swedish Obese Subjects cohorts. J. Clin. Invest. 98: 2086-2093, 1996.
[0018535]9123.Garcia-Rubi, E.; Starling, R. D.; Tchernof, A.; Matthews, D. E.; Walston, J. D.; Shuldiner, A. R.; Silver, K.; Poehlman, E. T.; Calles-Escandon, J.: Trp64Arg variant of the beta-3-adrenoceptor and insulin resistance in obese postmenopausal women. J. Clin. Endocr. Metab. 83: 4002-4005, 1998.
[0018536]9124.Hoffstedt, J.; Poirier, O.; Thorne, A.; Lonnqvist, F.; Herrmann, S. M.; Cambien, F.; Arner, P.: Polymorphism of the human beta-3-adrenoceptor gene forms a well-conserved haplotype that is associated with moderate obesity and altered receptor function. Diabetes 48: 203-205, 1999.
[0018537]9125.Kim-Motoyama, H.; Yasuda, K.; Yamaguchi, T.; Yamada, N.; Katakura, T.; Shuldiner, A. R.; Akanuma, Y.; Ohashi, Y.; Yazaki, Y.; Kadowaki, T.: A mutation of the beta-3-adrenergic receptor is associated with visceral obesity but decreased serum triglyceride. Diabetologia 40: 469-472, 1997.
[0018538]9126.Mitchell, B. D.; Blangero, J.; Comuzzie, A. G.; Almasy, L. A.; Shuldiner, A. R.; Silver, K.; Stern, M. P.; MacCluer, J. W.; Hixson, J. E.: A paired sibling analysis of the beta-3 adrenergic receptor and obesity in Mexican Americans. J. Clin. Invest. 101: 584-587, 1998.
[0018539]9127.Nagase, T.; Aoki, A.; Yamamoto, M.; Yasuda, H.; Kado, S.; Nishikawa, M.; Kugai, N.; Akatsu, T.; Nagata, N.: Lack of association between the trp64arg mutation in the beta-3-adrenergic receptor gene and obesity in Japanese men: a longitudinal analysis. J. Clin. Endocr. Metab. 82: 1284-1287, 1997.
[0018540]9128.Shihara, N.; Yasuda, K.; Moritani, T.; Ue, H.; Adachi, T.; Tanaka, H.; Tsuda, K.; Seino, Y.: The association between Trp64Arg polymorphism of the beta-3-adrenergic receptor and autonomic nervous system activity. J. Clin. Endocr. Metab. 84: 1623-1627, 1999.
[0018541]9129.Van Spronsen, A.; Nahmias, C.; Krief, S.; Briend-Sutren, M.-M.; Strosberg, A. D.; Emorine, L. J.: The promoter and intron/exon structure of the human and mouse beta-3-adrenergicreceptor genes. Europ. J. Biochem. 213: 1117-1124, 1993.
[0018542]9130.Urhammer, S. A.; Hansen, T.; Borch-Johnsen, K.; Pedersen, O.: Studies of the synergistic effect of the trp/arg64 polymorphism of the beta-3-adrenergic receptor gene and the -3826 AG variant of the uncoupling protein-1 gene on features of obesity and insulin resistance in a populationbased sample of 379 young Danish subjects. J. Clin. Endocr. Metab. 85: 3151-3154, 2000.
[0018543]9131.Walston, J.; Silver, K.; Bogardus, C.; Knowler, W. C.; Celi, F. S.; Austin, S.; Manning, B.; Strosberg, A. D.; Stern, M. P.; Raben, N.; Sorkin, J. D.; Roth, J.; Shuldiner, A. R.: Time of onset of non-insulin-dependent diabetes mellitus and genetic variation in the beta-3-adrenergic-receptor gene. New Eng. J. Med. 333: 343-347, 1995.
[0018544]9132.Walston, J.; Silver, K.; Hilfiker, H.; Andersen, R. E.; Seibert, M.; Beamer, B.; Roth, J.; Poehlman, E.; Shuldiner, A. R.: Insulin response to glucose is lower in individuals homozygous for the arg64 variant of the beta-3-andrenergic receptor. J. Clin. Endocr. Metab. 85: 4019-4022, 2000.
[0018545]9133.Hershfield, M. S.; Mitchell, B. S.: Immunodeficiency diseases caused by adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency.In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic and Molecular Bases of Inherited Disease. Vol. 2. New York: McGraw-Hill (7th ed.): 1995. Pp. 1725-1768.
[0018546]9134.Hirschhorn, R.: Identification of two new missense mutations (R156C and S291L) in two ADA(-) SCID patients unusual for response to therapy with partial exchange transfusions. Hum. Mutat. 1: 166-168, 1992.
[0018547]9135.Hirschhorn, R.: Personal Communication. New York, N.Y. 1976.
[0018548]9136.Hirschhorn, R.; Borkowsky, W.; Jiang, C.-K.; Yang, D. R.; Jenkins, T.: Two newly identified mutations (Thr233Ile and Leu152Met) in partially adenosine deaminase-deficient (ADA-) individuals that result in differing biochemical and metabolic phenotypes. Hum. Genet. 100: 22-29, 1997.
[0018549]9137.Hirschhorn, R.; Chakravarti, V.; Puck, J.; Douglas, S. D.: Homozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID). Am. J. Hum. Genet. 49: 878-885, 1991.
[0018550]9138.Hirschhorn, R.; Ellenbogen, A.: Genetic heterogeneity in adenosine deaminase (ADA) deficiency: five different mutations in five new patients with partial ADA deficiency. Am. J. Hum. Genet. 38: 13-25, 1986.
[0018551]9139.Hirschhorn, R.; Ellenbogen, A.; Tzall, S.: Five missense mutations at the adenosine deaminase locus (ADA) detected by altered restriction fragments and their frequency in ADA-patients with severe combined immunodeficiency (ADA-SCID). Am. J. Med. Genet. 42: 201-207, 1992.
[0018552]9140.Hirschhorn, R.; Levytska, V.; Parkman, R.: A mutant form of adenosine deaminase in severe combined immunodeficiency. (Abstract) J. Clin. Invest. 53: 33A, 1974.
[0018553]9141.Hirschhorn, R.; Martiniuk, F.; Roegner-Maniscalco, V.; Ellenbogen, A.; Perignon, J.-L.; Jenkins, T.: Genetic heterogeneity in partial adenosine deaminase deficiency. J. Clin. Invest. 71: 1887-1892, 1983.
[0018554]9142.Hirschhorn, R.; Papageorgiou, P. S.; Kesarwala, H. H.; Taft, L. T.: Amelioration of neurologic abnormalities after 'enzyme replacement' in adenosine deaminase deficiency. New Eng. J. Med. 303: 377-380, 1980.
[0018555]9143.Hirschhorn, R.; Roegner, V.; Jenkins, T.; Seaman, C.; Piomelli, S.; Borkowsky, W.: Erythrocyte adenosine deaminase deficiency without immunodeficiency: evidence for an unstable mutant enzyme. J. Clin. Invest. 64: 1130-1139, 1979.
[0018556]9144.Hirschhorn, R.; Tzall, S.; Ellenbogen, A.: Hot spot mutations in adenosine deaminase deficiency. Proc. Nat. Acad. Sci. 87: 6171-6175, 1990.
[0018557]9145.Hirschhorn, R.; Tzall, S.; Ellenbogen, A.; Orkin, S. H.: Identification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiency. J. Clin. Invest. 83: 497-501, 1989.
[0018558]9146.Hirschhorn, R.; Vawter, G. F.; Kirkpatrick, J. A., Jr.; Rosen, F. S.: Adenosine deaminase deficiency: frequency and comparative pathology in autosomally recessive severe combined immunodeficiency. Clin. Immun. Immunopath. 14: 107-120, 1979.
[0018559]9147.Hirschhorn, R.; Yang, D. R.; Israni, A.: An asp8-to-asn substitution results in the adenosine deaminase (ADA) genetic polymorphism (ADA 2 allozyme): occurrence on different chromosomal backgrounds and apparent intragenic crossover. Ann. Hum. Genet. 58: 1-9, 1994.
[0018560]9148.Hirschhorn, R.; Yang, D. R.; Israni, A.; Huie, M. L.; Ownby, D. R.: Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery. Am. J. Hum. Genet. 55: 59-68, 1994.
[0018561]9149.Hirschhorn, R.; Yang, D. R.; Puck, J. M.; Huie, M. L.; Jiang, C.-K.; Kurlandsky, L. E.: Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency. Nature Genet. 13: 290-295, 1996.
[0018562]9150.Hong, R.; Galti, R.; Rathbun, J. C.; Good, R. A.: Thymic hypoplasia and thyroid dysfunction. New Eng. J. Med. 282: 470-474, 1970.
[0018563]9151.Honig, J.; Martiniuk, F.; D'Eustachio, P.; Zamfirescu, C.; Desnick, R.; Hirschhorn, K.; Hirschhorn, L. R.; Hirschhorn, R.: Confirmation of the regional localization of the genes for human acid alpha-glucosidase (GAA) and adenosine deaminase (ADA) by somatic cell hybridization. Ann. Hum. Genet. 48: 49-56, 1984.
[0018564]9152.Hopkinson, D. A.; Cook, P. J. L.; Harris, H.: Further data on the adenosine deaminase (ADA) polymorphism and a report of a new phenotype. Ann. Hum. Genet. 32: 361-368, 1969.
[0018565]9153.Hutton, J. J.; Wiginton, D. A.; Coleman, M. S.; Fuller, S. A.; Limouze, S.; Lampkin, B. C.: Biochemical and functional abnormalities in lymphocytes from an adenosine deaminase-deficient patient during enzyme replacement therapy. J. Clin. Invest. 68: 413-421, 1981.
[0018566]9154.Jenkins, T.; Rabson, A. R.; Nurse, G. T.; Lane, A. B.; Hopkinson, D. A.: Deficiency of adenosine deaminase not associated with severe combined immunodeficiency. J. Pediat. 89: 732-736, 1976.
[0018567]9155.Jhanwar, S. C.; Berkvens, T. M.; Breukel, C.; van Ormondt, H.; van der Eb, A. J.; Meera Khan, P.: Localization of human adenosine deaminase (ADA) gene sequences to the q12-q13.11 region of chromosome 20 by in situ hybridization. Cytogenet. Cell Genet. 50: 168-171, 1989.
[0018568]9156.Jiang, C.-K.; Hong, R.; Horowitz, S. D.; Kong, X.-P.; Hirschhorn, R.: An adenosine deaminase (ADA) allele contains two newly identified deleterious mutations (Y97C and L106V) that interact to abolish enzyme activity. Hum. Molec. Genet. 6: 2271-2278, 1997.
[0018569]9157.Kaitila, I.; Rimoin, D. L.; Cederbaum, S. D.; Stiehm, E. R.; Lechman, R. S.: Chondroosseous histopathology in adenosine deaminase deficient combined immunodeficiency disease. Birth Defects Orig. Art. Ser. XII(6): 115-121, 1976.
[0018570]9158.Kellems, R. E.; Yeung, C.-Y.; Ingolia, D. E.: Adenosine deaminase deficiency and severe combined immunodeficiencies. Trends Genet. 1: 278-283, 1985.
[0018571]9159.Kenny, A. B.; Hitzig, W. H.: Bone marrow transplantation for severe combined immunodeficiency disease: reported from 1968-1977. Europ. J. Pediat. 131: 155-176, 1979.
[0018572]9160.Koch, G.; Shows, T. B.: Somatic cell genetics of adenosine deaminase expression and severe combined immunodeficiency disease in humans. Proc. Nat. Acad. Sci. 77: 4211-4215, 1980.
[0018573]9161.Kredich, N. M.; Martin, D. W., Jr.: Role of 5-adenosylhomocysteine in adenosinemediated toxicity in cultured mouse T-lymphoma cells. Cell 12: 931-938, 1977.
[0018574]9162.Levy, Y.; Hershfield, M. S.; Fernandez-Mejia, C.; Polmar, S. H.; Scudiery, D.; Berger, M.; Sorensen, R. U.: Adenosine deaminase deficiency with late onset of recurrent infections: response to treatment with polyethylene glycol-modified adenosine deaminase. J. Pediat. 113: 312-317, 1988.
[0018575]9163.Sparkes, R. S.; Klisak, I.; Miller, W. L.: Regional mapping of genes encoding human steroidogenic enzymes: P450scc to 15q23-q24; adrenodoxin to 11q22; adrenodoxin reductase to 17q24-q25; and P450c17 to 10q24-q25. DNA Cell Biol. 10: 359-365, 1991.
[0018576]9164.Makino, Y.; Shibata, K.; Makino, I.; Kangawa, K.; Kawarabayashi, T.: Alteration of the adrenomedullin receptor components gene expression associated with the blood pressure in pregnancyinduced hypertension. J. Clin. Endocr. Metab. 86: 5079-5082, 2001.
[0018577]9165.McLatchie, L. M.; Fraser, N. J.; Main, M. J.; Wise, A.; Brown, J.; Thompson, N.; Solari, R.; Lee, M. G.; Foord, S. M.: RAMPs regulate the transport and ligand specificity of the calcitoninreceptor-like receptor. Nature 393: 333-339, 1998.
[0018578]9166.Bell, A. C.; Felsenfeld, G.: Methylation of a CTCF-dependent boundary controls imprinted expression of the Igf2 gene. Nature 405: 482-485, 2000.
[0018579]9167.Ferguson-Smith, A. C.; Cattanach, B. M.; Barton, S. C.; Beechey, C. V.; Surani, M. A.: Embryological and molecular investigations of parental imprinting on mouse chromosome 7. Nature 351: 667-670, 1991.
[0018580]9168.Ohno, S.: Ancient linkage groups and frozen accidents. Nature 244: 259-262, 1973.
[0018581]9169.Bateman, J. B.; Kojis, T.; Heinzmann, C.; Klisak, I.; Diep, A.; Carper, D.; Nishimura, C.; Mohandas, T.; Sparkes, R. S.: Mapping of aldose reductase gene sequences to human chromosomes 1, 3, 7, 9, 11, and 13. Genomics 17: 560-565, 1993.
[0018582]9170.Brown, L.; Hedge, P. J.; Markham, A. F.; Graham, A.: A human aldehyde dehydrogenase (aldose reductase) pseudogene: nucleotide sequence analysis and assignment to chromosome 3. Genomics 13: 465-468, 1992.
[0018583]9171.Chung, S.; LaMendola, J.: Cloning and sequence determination of human placental aldose reductase gene. J. Biol. Chem. 264: 14775-14777, 1989.
[0018584]9172.Graham, A.; Brown, L.; Hedge, P. J.; Gammack, A. J.; Markham, A. F.: Structure of the human aldose reductase gene. J. Biol. Chem. 266: 6872-6877, 1991.
[0018585]9173.Graham, A.; Heath, P.; Morten, J. E. N.; Markham, A. F.: The human aldose reductase gene maps to chromosome region 7q35. Hum. Genet. 86: 509-514, 1991.
[0018586]9174.Nishimura, C.; Matsuura, Y.; Kokai, Y.; Akera, T.; Carper, D.; Morjana, N.; Lyons, C.; Flynn, T. G.: Cloning and expression of human aldose reductase. J. Biol. Chem. 265: 9788-9792, 1990.
[0018587]9175.Shah, V. O.; Dorin, R. I.; Sun, Y.; Braun, M.; Zager, P. G.: Aldose reductase gene expression is increased in diabetic nephropathy. J. Clin. Endocr. Metab. 82: 2294-2298, 1997.
[0018588]9176.Pericak-Vance, M. A.; Bebout, J. L.; Gaskell, P. C., Jr.; Yamaoka, L. H.; Hung, W.-Y.; Alberts, M. J.; Walker, A. P.; Bartlett, R. J.; Haynes, C. A.; Welsh, K. A.; Earl, N. L.; Heyman, A.; Clark, C. M.; Roses, A. D.: Linkage studies in familial Alzheimer disease: evidence for chromosome 19 linkage. Am. J. Hum. Genet. 48: 1034-1050, 1991.
[0018589]9177.Roberds, S. L.; Anderson, J.; Basi, G.; Bienkowski, M. J.; Branstetter, D. G.; Chen, K. S.; Freedman, S. B.; Frigon, N. L.; Games, D.; Hu, K.; Johnson-Wood, K.; Kappenman, K. E.; and 20 others: BACE knockout mice are healthy despite lacking the primary beta-secretase activity in brain: implications for Alzheimer's disease therapeutics. Hum. Molec. Genet. 10: 1317-1324, 2001.
[0018590]9178.Tanzi, R.; St. George-Hyslop, P.; Haines, J.; Neve, R.; Polinsky, R.; Conneally, P. M.; Gusella, J. F.: Genetic linkage analysis of the Alzheimer's associated amyloid beta protein gene with familial Alzheimer's disease and chromosome 21.(Abstract) Cytogenet. Cell Genet. 46: 703 only, 1987.
[0018591]9179.Tanzi, R. E.; Bird, E. D.; Latt, S. A.; Neve, R. L.: The amyloid beta protein gene is not duplicated in brains from patients with Alzheimer's disease. Science 238: 666-669, 1987.
[0018592]9180.Tanzi, R. E.; St. George-Hyslop, P. H.; Haines, J. L.; Polinsky, R. J.; Nee, L.; Foncin, J.-F.; Neve, R. L.; McClatchey, A. I.; Conneally, P. M.; Gusella, J. F.: The genetic defect in familial Alzheimer's disease is not tightly linked to the amyloid beta-protein gene. Nature 329: 156-157, 1987.
[0018593]9181.Van Broeckhoven, C.; Backhovens, H.; Raeymaekers, P.; Wehnert, A.; Horsthemke, B.; Beyreuther, K.; Genthe, A.; Barton, A.; Hardy, J.; Irving, N.; Williamson, R.; Vandenberghe, A.: Linkage study between the amyloid gene and familial Alzheimer disease.(Abstract) Cytogenet. Cell Genet. 46: 708 only, 1987.
[0018594]9182.Botto, M.; Hawkins, P. N.; Bickerstaff, M. C.; Herbert, J.; Bygrave, A. E.; McBride, A.; Hutchinson, W. L.; Tennent, G. A.; Walport, M. J.; Pepys, M. B.: Amyloid deposition is delayed in mice with targeted deletion of the serum amyloid P component gene. Nature Med. 3: 855-859, 1997.
[0018595]9183.Tanzi, R. E.; Vaula, G.; Romano, D. M.; Mortilla, M.; Huang, T. L.; Tupler, R. G.; Wasco, W.; Hyman, B. T.; Haines, J. L.; Jenkins, B. J.; Kalaitsidaki, M.; Warren, A. C.; McInnis, M. C.; Antonarakis, S. E.; Karlinsky, H.; Percy, M. E.; Connor, L.; Growdon, J.; Crapper-McLachlan, D. R.; Gusella, J. F.; St. George-Hyslop, P. H.: Assessment of amyloid beta-protein precursor gene mutations in a large set of familial and sporadic Alzheimer disease cases. Am. J. Hum. Genet. 51: 273-282, 1992.
[0018596]9184.Van Broeckhoven, C.; Haan, J.; Bakker, E.; Hardy, J. A.; Van Hul, W.; Wehnert, A.; Vegter-Van der Vlis, M.; Roos, R. A. C.: Amyloid beta protein precursor gene and hereditary cerebral hemorrhage with amyloidosis (Dutch). Science 248: 1120-1122, 1990. 100. van Duijn, C. M.; Hendriks, L.; Cruts, M.; Hardy, J. A.; Hofman, A.; Van Broeckhoven, C.: Amyloid precursor protein gene mutation in early-onset Alzheimer's disease.(Letter) Lancet 337: 978 only, 1991. 101. van Duinen, S. G.; Castano, E. M.; Prelli, F.; Bots, G. T. A. B.; Luyendijk, W.; Frangione, B.: Hereditary cerebral hemorrhage with amyloidosis in patients of Dutch origin is related to Alzheimer disease. Proc. Nat. Acad. Sci. 84: 5991-5994, 1987. 102. van Leeuwen, F. W.; de Kleijn, D. P. V.; van den Hurk, H. H.; Neubauer, A.; Sonnemans, M. A. F.; Sluijs, J. A.; Koycu, S.; Ramdjielal, R. D. J.; Salehi, A.; Martens, G. J. M.; Grosveld, F. G.; Burbach, J. P. H.; Hol, E. M.: Frameshift mutants of beta-amyloid precursor protein and ubiquitin-B in Alzheimer's and Down patients. Science 279: 242-247, 1998. 103. Van Nostrand, W. E.; Wanger, S. L.; Suzuki, M.; Choi, B. H.; Farrow, J. S.; Geddes, J. W.; Cotman, C. W.; Cunningham, D. D.: Protease nexin-II, a potent antichymotrypsin, shows identity to amyloid beta-protein precursor. Nature 341: 546-549, 1989. 104. Walsh, D. M.; Klyubin, I.; Fadeeva, J. V.; Cullen, W. K.; Anwyl, R.; Wolfe, M. S.; Rowan, M. J.; Selkoe, D. J.: Naturally secreted oligomers of amyloid beta protein potently inhibit hippocampal long-term potentiation in vivo. Nature 416: 535-539, 2002. 105. Wattendorff, A. R.; Bots, G. T. A. M.; Went, L. N.; Endtz, L. J.: Familial cerebral amyloid angiopathy presenting as recurrent cerebral haemorrhage. J. Neurol. Sci. 55: 121-135, 1982. 106. Weggen, S.; Eriksen, J. L.; Das, P.; Sagi, S. A.; Wang, R.; Pietrzik, C. U.; Findlay, K. A.; Smith, T. E.; Murphy, M. P.; Bulter, T.; Kang, D. E.; Marquez-Sterling, N.; Golde, T. E.; Koo, E. H.: A subset of NSAIDs lower amyloidogenic A-beta-42 independently of cyclooxygenase activity. Nature 414: 212-216, 2001. 107. Wilson, C. A.; Doms, R. W.; Zheng, H.; Lee, V. M.-Y.: Presenilins are not required for A-beta-42 production in the early secretory pathway. Nature Neurosci. 5: 849-855, 2002. 108. Wyss-Coray, T.; Lin, C.; Yan, F.; Yu, G.; Rohde, M.; McConlogue, L.; Masliah, E.; Mucke, L.: TGF-beta-1 promotes microglial amyloid-beta clearance and reduces plaque burden in transgenic mice. Nature Med. 7: 612-618, 2001. 109. Xu, H.; Gouras, G. K.; Greenfield, J. P.; Vincent, B.; Naslund, J.; Mazzarelli, L.; Fried, G.; Jovanovic, J. N.; Seeger, M.; Relkin, N. R.; Liao, F.; Checler, F.; Buxbaum, J. D.; Chait, B. T.; Thinakaran, G.; Sisodia, S. S.; Wang, R.; Greengard, P.; Gandy, S.: Estrogen reduces neuronal generation of Alzheimer beta-amyloid peptides. Nature Med. 4: 447-451, 1998. 110. Yamatsuji, T.; Matsui, T.; Okamoto, T.; Komatsuzaki, K.; Takeda, S.; Fukumoto, H.; Iwatsubo, T.; Suzuki, N.; Asami-Odaka, A.; Ireland, S.; Kinane, T. B.; Giambarella, U.; Nishimoto, I.: G protein-mediated neuronal DNA fragmentation induced by familial Alzheimer's disease-associated mutants of APP. Science 272: 1349-1352, 1996. 111. Yan, S. D.; Chen, X.; Fu, J.; Chen, M.; Zhu, H.; Roher, A.; Slattery, T.; Zhao, L.; Nagashima, M.; Morser, J.; Migheli, A.; Nawroth, P.; Stern, D.; Schmidt, A. M.: RAGE and amyloid-beta peptide neurotoxicity in Alzheimer's disease. Nature 382: 685-691, 1996. 112. Yoshikai, S.; Sasaki, H.; Doh-ura, K.; Furuya, H.; Sakaki, Y. : Genomic organization of the human amyloid beta-protein precursor gene. Gene 87: 257-263, 1990. 113. Yoshioka, K.; Miki, T.; Katsuya, T.; Ogihara, T.; Sakaki, Y. : The 717-val-to-ile substitution in amyloid precursor protein is associated with familial Alzheimer's disease regardless of ethnic groups. Biochem. Biophys. Res. Commun. 178: 1141-1146, 1991. 114. Zabel, B. U.; Salbaum, J. M.; Multhaup, G.; Master, C. L.; Bohl, J.; Beyreuther, K.: Sublocalization of the gene for the precursor of Alzheimer's disease amyloid A4 protein on chromosome 21.(Abstract) Cytogenet. Cell Genet. 46: 725-726, 1987. 115. Zeldenrust, S. R.; Murrell, J.; Farlow, M.; Ghetti, B.; Roses, A. D.; Benson, M. D.: RFLP analysis for APP 717 mutations associated with Alzheimer's disease. J. Med. Genet. 30: 476-478, 1993.
[0018597]9185.Floyd-Smith, G. A.; Whitehead, A. S.; Colten, H. R.; Francke, U. : Human serum amyloid P component (SAP) is located on the proximal long arm of chromosome 1. (Abstract) Cytogenet. Cell Genet. 40: 631 only, 1985.
[0018598]9186.Ionasescu, V.; Burns, T.; Searby, C.; Ionasescu, R.: Linkage between the loci for Duffy (FY) and serum amyloid P component (APCS) on human chromosome 1. Cytogenet. Cell Genet. 45: 240-241, 1987.
[0018599]9187.Mantzouranis, E. C.; Dowton, S. B.; Whitehead, A. S.; Edge, M. D.; Bruns, G. A. P.; Colten, H. R.: Human serum amyloid P component: cDNA isolation, complete sequence of pre-serum amyloid P component, and localization of the gene to chromosome 1. J. Biol. Chem. 260: 7752-7756, 1985.
[0018600]9188.Mortensen, R. F.; Le, P. T.; Taylor, B. A.: Mouse serum amyloid P-component (SAP) levels controlled by a locus on chromosome 1. Immunogenetics 22: 367-375, 1985.
[0018601]9189.Pepys, M. B.; Herbert, J.; Hutchinson, W. L.; Tennent, G. A.; Lachmann, H. J.; Gallimore, J. R.; Lovat, L. B.; Bartfai, T.; Alanine, A.; Hertel, C.; Hoffmann, T.; Jakob-Roetne, R.; and 11 others: Targeted pharmacological depletion of serum amyloid P component for treatment of human amyloidosis. Nature 417: 254-259, 2002.
[0018602]9190.Prelli, F.; Pras, M.; Frangione, B.: The primary structure of human tissue amyloid P component from a patient with primary idiopathic amyloidosis. J. Biol. Chem. 260: 12895-12898, 1985.
[0018603]9191.Whitehead, A. S.; Rits, M.; Michaelson, J.: Molecular genetics of mouse serum amyloid P component (SAP): cloning and gene mapping. Immunogenetics 28: 388-390, 1988.
[0018604]9192.Woo, P.; O'Brien, J.; Robson, M.; Ansell, B. M.: A genetic marker for systemic amyloidosis in juvenile arthritis. Lancet I: 767-769, 1987.
[0018605]9193.Wasco, W.; Brook, J. D.; Tanzi, R. E.: The amyloid precursor-like protein (APLP) gene maps to the long arm of human chromosome 19. Genomics 15: 237-239, 1993.
[0018606]9194.Leach, R.; Ko, M.; Krawetz, S. A.: Assignment of amyloid-precursor-like protein 2 gene (APLP2) to 11q24 by fluorescent in situ hybridization. Cytogenet. Cell Genet. 87: 215-216, 1999.
[0018607]9195.von der Kammer, H.; Loffler, C.; Hanes, J.; Klaudiny, J.; Scheit, K. H.; Hansmann, I.: The gene for the amyloid precursor-like protein APLP2 is assigned to human chromosome 11q23-25. Genomics 10: 308-311, 1994.
[0018608]9196.von Koch, C. S.; Lahiri, D. K.; Mammen, A. L.; Copeland, N. G.; Gilbert, D. J.; Jenkins, N. A.; Sisodia, S. S.: The mouse APLP2 gene: chromosomal localization and promoter characterization. J. Biol. Chem. 270: 25475-25480, 1995.
[0018609]9197.Yan, Y. C.; Bai, Y.; Wang, L.; Miao, S.; Koide, S. S.: Characterization of cDNA encoding a human sperm membrane protein related to A4 amyloid protein. Proc. Nat. Acad. Sci. 87: 2405-2408, 1990.
[0018610]9198.Yang, Y.; Martin, L.; Cuzin, F.; Mattei, M.-G.; Rassoulzadegan, M.: Genomic structure and chromosomal localization of the mouse CDEI-binding protein CDEBP (APLP2) gene and promoter sequences. Genomics 35: 24-29, 1996.
[0018611]9199.Wallukat, G.; Homuth, V.; Fischer, T.; Lindschau, C.; Horstkamp, B.; Jupner, A.; Baur, E.; Nissen, E.; Vetter, K.; Neichel, D.; Dudenhausen, J. W.; Haller, H.; Luft, F. C.: Patients with preeclampsia develop agonistic autoantibodies against the angiotensin AT-1 receptor. J. Clin. Invest. 103: 945-952, 1999.
[0018612]9200.Wang, W. Y. S.; Zee, R. Y. L.; Morris, B. J.: Association of angiotensin II type 1 receptor gene polymorphism with essential hypertension. Clin. Genet. 51: 31-34, 1997.
[0018613]9201.Wilson, G. N.; Dasouki, M.; Barr, M., Jr.: Further delineation of the dup(3q) syndrome. Am. J. Med. Genet. 22: 117-123, 1985.
[0018614]9202.Tweardy, D. J.; Cannizzaro, L. A.; Palumbo, A. P.; Shane, S.; Huebner, K.; Vantuinen, P.; Ledbetter, D. H.; Finan, J. B.; Nowell, P. C.; Rovera, G.: Molecular cloning and characterization of a cDNA for human granulocyte colony-stimulating factor (G-CSF) from a glioblastoma multiforme cell line and localization of the G-CSF gene to chromosome band 17q21. Oncogene Res. 1: 209-220, 1987.
[0018615]9203.Wada, K.; Yokotani, N.; Hunter, C.; Doi, K.; Wenthold, R. J.; Shimasaki, S.: Differential expression of two distinct forms of mRNA encoding members of a dipeptidyl aminopeptidase family. Proc. Nat. Acad. Sci. 89: 197-201, 1992.
[0018616]9204.Wada, K.; Zimmerman, K. L.; Adamson, M. C.; Yokotani, N.; Wenthold, R. J.; Kozak, C. A.: Genetic mapping of the mouse gene encoding dipeptidyl aminopeptidase-like proteins. Mammalian Genome 4: 234-237, 1993.
[0018617]9205.Yokotani, N.; Doi, K.; Wenthold, R. J.; Wada, K.: Non-conservation of a catalytic residue in a depeptidyl aminopeptidase IV-related protein encoded by a gene on human chromosome 7. Hum. Molec. Genet. 2: 1037-1039, 1993.
[0018618]9206.Chang, T.-M.; Neville, D. M., Jr.: Demonstration of diphtheria toxin receptors on surface membranes from both toxin-sensitive and toxin-resistant species. J. Biol. Chem. 253: 6866-6871, 1978.
[0018619]9207.Creagan, R. P.; Chen, S.-H.; Ruddle, F. H.: Genetic analysis of the cell surface: association of human chromosome 5 with sensitivity to diphtheria toxin in mouse-human somatic cell hybrids. Proc. Nat. Acad. Sci. 72: 2237-2241, 1975.
[0018620]9208.Fen, Z.; Dhadly, M. S.; Yoshizumi, M.; Hilkert, R. J.; Quertermous, T.; Eddy, R. L.; Shows, T. B.; Lee, M.-E.: Structural organization and chromosomal assignment of the gene encoding the human heparin-binding epidermal growth factor-like growth factor/diphtheria toxin receptor. Biochemistry 32: 7932-7938, 1993.
[0018621]9209.George, D. L.; Francke, U.: Regional mapping of human genes for hexosaminidase B and diphtheria toxin sensitivity on chromosome 5 using mouse X human hybrid cells. Somat. Cell Genet. 3: 629-638, 1977.
[0018622]9210.Gupta, R. S.; Siminovitch, L.: Isolation and characterization of mutants of human diploid fibroblasts resistant to diphtheria toxin. Proc. Nat. Acad. Sci. 75: 3337-3340, 1978.
[0018623]9211.Hayes, H.; Kaneda, Y.; Uchida, T.; Okada, Y.: Regional assignment of the gene for diphtheria toxin sensitivity using subchromosomal fragments in microcell hybrids. Chromosoma 96: 26-32, 1987.
[0018624]9212.Higashiyama, S.; Abraham, J. A.; Miller, J.; Fiddes, J. C.; Klagsbrun, M.: A heparinbinding growth factor secreted by macrophage-like cells that is related to EGF. Science 251: 936-939, 1991.
[0018625]9213.Wang, Q.; Curren, M. E.; Splawski, I.; Burn, T. C.; Millholland, J. M.; VanRaay, T. J.; Shen, J.; Timothy, K. W.; Vincent, G. M.; de Jager, T.; Schwartz, P. J.; Towbin, J. A.; Moss, A. J.; Atkinson, D. L.; Landes, G. M.; Connors, T. D.; Keating, M. T.: Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nature Genet. 12: 17-23, 1996.
[0018626]9214.Kresse, H.; Rosthoj, S.; Quentin, E.; Hollmann, J.; Glossl, J.; Okada, S.; Tonnesen, T.: Glycosaminoglycan-free small proteoglycan core protein is secreted by fibroblasts from a patient with a syndrome resembling progeroid. Am. J. Hum. Genet. 41: 436-453, 1987.
[0018627]9215.Bellus, G. A.; Spector, E. B.; Speiser, P. W.; Weaver, C. A.; Garber, A. T.; Bryke, C. R.; Israel, J.; Rosengren, S. S.; Webster, M. K.; Donoghue, D. J.; Francomano, C. A.: Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype. Am. J. Hum. Genet. 67: 1411-1421, 2000.
[0018628]9216.Kondo, M.; Scherer, D. C.; Miyamoto, T.; King, A. G.; Akashi, K.; Sugamura, K.; Weissman, I. L.: Cell-fate conversion of lymphoid-committed progenitors by instructive actions of cytokines. Nature 407: 383-386, 2000.
[0018629]9217.Tavernier, J.; Devos, R.; Cornelis, S.; Tuypens, T.; Van der Heyden, J.; Fiers, W.; Plaetinck, G.: A human high affinity interleukin-5 receptor (IL5R) is composed of an IL5-specific alpha chain and a beta chain shared with the receptor for GM-CSF. Cell 66: 1175-1184, 1991.
[0018630]9218.Prohl, C.; Pelzer, W.; Diekert, K.; Kmita, H.; Bedekovics, T.; Kispal, G.; Lill, R.: The yeast mitochondrial carrier Leu5p and its human homologue Graves' disease protein are required for accumulation of coenzyme A in the matrix. Molec. Cell Biol. 21: 1089-1097, 2001.
[0018631]9219.Rossi, E.; Zarrilli, R.; Zuffardi, O.: Regional assignment of the gene coding for a human Graves' disease autoantigen to 10q21.3-q22.1. Hum. Genet. 90: 653-654, 1993.
[0018632]9220.Zarrilli, R.; Oates, E. L.; McBride, O. W.; Lerman, M. I.; Chan, J. Y.; Santisteban, P.; Ursini, M. V.; Notkins, A. L.; Kohn, L. D. : Sequence and chromosomal assignment of a novel cDNA identified by immunoscreening of a thyroid expression library: similarity to a family of mitochondrial solute carrier proteins. Molec. Endocr. 3: 1498-1508, 1989.
[0018633]9221.Douglas, A. J.; Fox, M. F.; Abbott, C. M.; Hinks, L. J.; Sharpe, G.; Povey, S.; Thompson, R. J.: Structure and chromosomal localization of the human 2-prime,3-prime-cyclic nucleotide 3-prime-phosphodiesterase gene. Ann. Hum. Genet. 56: 243-254, 1992.
[0018634]9222.Douglas, A. J.; Fox, M. F.; Hinks, L. J.; Povey, S.; Thompson, R. J.: Localization of the myelin specific enzyme 2-prime,3-prime-cyclic nucleotide-3-prime-phosphohydrolase to 17q21. (Abstract) Cytogenet. Cell Genet. 58: 2004 only, 1991.
[0018635]9223.Kurihara, T.; Monoh, K.; Sakimura, K.; Takahashi, Y.: Alternative splicing of mouse brain 2-prime,3-prime-cyclic nucleotide 3-prime-phosphodiesterase mRNA. Biochem. Biophys. Res. Commun. 170: 1074-1081, 1990.
[0018636]9224.Monoh, K.; Kurihara, T.; Takahashi, Y.; Ichikawa, T.; Kumanishi, T.; Hayashi, S.; Minoshima, S.; Shimizu, N.: Structure, expression and chromosomal localization of the gene encoding human 2-prime,3-prime-cyclic-nucleotide 3-prime-phosphodiesterase. Gene 129: 297-301, 1993.
[0018637]9225.Stepanova, L.; Leng, X.; Parker, S. B.; Harper, J. W.: Mammalian p50(Cdc37) is a protein kinase-targeting subunit of Hsp90 that binds and stabilizes Cdk4. Genes Dev. 10: 1491-1502, 1996.
[0018638]9226.Wolfel, T.; Hauer, M.; Schneider, J.; Serrano, M.; Wolfel, C.; Klehmann-Hieb, E.; De Plaen, E.; Hankeln, T.; Meyer zum Buschenfelde, K.-H.; Beach, D.: A p16(INK4a)-insensitive CDK4 mutant targeted by cytolytic T lymphocytes in a human melanoma. Science 269: 1281-1284, 1995.
[0018639]9227.Zuo, L.; Weger, J.; Yang, Q.; Goldstein, A. M.; Tucker, M. A.; Walker, G. J.; Hayward, N.; Dracopoli, N. C.: Germline mutations in the p16(INK4a) binding domain of CDK4 in familial melanoma. Nature Genet. 12: 97-99, 1996.
[0018640]9228.Bernier, L.; Colman, D. R.; D'Eustachio, P.: Chromosomal locations of genes encoding 2-prime,3-prime cyclic nucleotide 3-prime-phosphodiesterase and glial fibrillary acidic protein in the mouse. J. Neurosci. Res. 20: 497-504, 1988.
[0018641]9229.Bifulco, M.; Laezza, C.; Stingo, S.; Wolff, J.: 2-prime,3-prime-cyclic nucleotide 3-prime-phosphodiesterase: a membrane-bound, microtubule-associated protein and membrane anchor for tubulin. Proc. Nat. Acad. Sci. 99: 1807-1812, 2002.
[0018642]9230.Sprinkle, T. J.; Kouri, R. E.; Fain, P. D.; Stoming, T. A.; Whitney, J. B., III: Chromosomal mapping of the human CNP gene using a meiotic crossover DNA panel, PCR, and allelespecific probes. Genomics 16: 542-545, 1993.
[0018643]9231.Sprinkle, T. J.; Lanclos, K. D.; Lapp, D. F.: Assignment of the human 2-prime,3-primecyclic nucleotide 3-prime-phosphohydrolase gene to chromosome 17. Genomics 13: 877-880, 1992.
[0018644]9232.Vogel, U. S.; Thompson, R. J.: Molecular structure, localization, and possible functions of the myelin-associated enzyme 2-prime,3-prime-cyclic nucleotide 3-prime-phosphodiesterase. J. Neurochem. 50: 1667-1677, 1988.
[0018645]9233.Bibb, J. A.; Chen, J.; Taylor, J. R.; Svenningsson, P.; Nishi, A.; Snyder, G. L.; Yan, Z.; Sagawa, Z. K.; Ouimet, C. C.; Nairn, A. C.; Nestler, E. J.; Greengard, P.: Effects of chronic exposure to cocaine are regulated by the neuronal protein Cdk5. Nature 410: 376-380, 2001.
[0018646]9234.Demetrick, D. J.; Matsumoto, S.; Hannon, G. J.; Okamoto, K.; Xiong, Y.; Zhang, H.; Beach, D. H.: Chromosomal mapping of the genes for the human cell cycle proteins cyclin C (CCNC), cyclin E (CCNE), p21 (CDKN1) and KAP (CDKN3). Cytogenet. Cell Genet. 69: 190-192, 1995.
[0018647]9235.Gyuris, J.; Golemis, E.; Chertkov, H.; Brent, R.: Cdi1, a human G1 and S phase protein phosphatase that associates with Cdk2. Cell 75: 791-803, 1993.
[0018648]9236.Hannon, G. J.; Casso, D.; Beach, D.: KAP: a dual specificity phosphatase that interacts with cyclin-dependent kinases. Proc. Nat. Acad. Sci. 91: 1731-1735, 1994.
[0018649]9237.Inaba, T.; Matsushime, H.; Valentine, M.; Roussel, M. F.; Sherr, C. J.; Look, A. T.: Genomic organization, chromosomal localization, and independent expression of human cyclin D genes. Genomics 13: 565-574, 1992.
[0018650]9238.Kim, H. A.; Pomeroy, S. L.; Whoriskey, W.; Pawlitzky, I.; Benowitz, L. I.; Sicinski, P.; Stiles, C. D.; Roberts, T. M.: A developmentally regulated switch directs regenerative growth of Schwann cells through cyclin D1. Neuron 26: 405-416, 2000.
[0018651]9239.Xiong, Y.; Menninger, J.; Beach, D.; Ward, D. C.: Molecular cloning and chromosomal mapping of CCND genes encoding human D-type cyclins. Genomics 13: 575-584, 1992.
[0018652]9240.Stamper, C. C.; Zhang, Y.; Tobin, J. F.; Erbe, D. V.; Ikemizu, S.; Davis, S. J.; Stahl, M. L.; Seehra, J.; Somers, W. S.; Mosyak, L.: Crystal structure of the B7-1/CTLA-4 complex that inhibits human immune responses. Nature 410: 608-611, 2001. Note: Erratum: Nature 411: 617 only, 2001.
[0018653]9241.Allenspach, E. J.; Cullinan, P.; Tong, J.; Tang, Q.; Tesciuba, A. G.; Cannon, J. L.; Takahashi, S. M.; Morgan, R.; Burkhardt, J. K.; Sperling, A. I.: ERM-dependent movement of CD43 defines a novel protein complex distal to the immunological synapse. Immunity 15: 739-750, 2001.
[0018654]9242.Bonilha, V. L.; Rodriguez-Boulan, E.: Polarity and developmental regulation of two PDZ proteins in the retinal pigment epithelium. Invest. Ophthal. Vis. Sci. 42: 3274-3282, 2001.
[0018655]9243.Brunet, J.-F.; Dosseto, M.; Denizot, F.; Mattei, M.-G.; Clark, W. R.; Haqqi, T. M.; Ferrier, P.; Nabholz, M.; Schmitt-Verhulst, A.-M.; Luciani, M.-F.; Golstein, P.: The inducible cytotoxic T-lymphocyte-associated gene transcript CTLA-1 sequence and gene localization to mouse chromosome 14. Nature 322: 268-271, 1986.
[0018656]9244.Crosby, J. L.; Bleackley, R. C.; Nadeau, J. H.: A complex of serine protease genes expressed preferentially in cytotoxic T-lymphocytes is closely linked to the T-cell receptor alpha- and delta-chain genes on mouse chromosome 14. Genomics 6: 252-259, 1990.
[0018657]9245.Dahl, C. A.; Bach, F. H.; Chan, W.; Huebner, K.; Russo, G.; Croce, C. M.; Herfurth, T.; Cairns, J. S.: Isolation of a cDNA clone encoding a novel form of granzyme B from human NK cells and mapping to chromosome 14. Hum. Genet. 84: 465-470, 1990.
[0018658]9246.Okajima, T.; Fukumoto, S.; Furukawa, K.; Urano, T.; Furukawa, K. : Molecular basis for the progeroid variant of Ehlers-Danlos syndrome: identification and characterization of two mutations in galactosyltransferase I gene. J. Biol. Chem. 274: 28841-28844, 1999.
[0018659]9247.Okajima, T.; Yoshida, K.; Kondo, T.; Furukawa, K.: Human homolog of Caenorhabditis elegans sqv-3 gene is galactosyltransferase I involved in the biosynthesis of the glycosaminoglycanprotein linkage region of proteoglycans. J. Biol. Chem. 274: 22915-22918, 1999.
[0018660]9248.Trueb, B.; Winterhalter, K. H.: Type VI collagen is composed of a 200 kD subunit and two 140 kD subunits. EMBO J. 5: 2815-2819, 1986.
[0018661]9249.Weil, D.; Mattei, M.-G.; Passage, E.; Van Cong, N.; Pribula-Conway, D.; Mann, K.; Deutzmann, R.; Timpl, R.; Chu, M.-L.: Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen. Am. J. Hum. Genet. 42: 435-445, 1988.
[0018662]9250.Muragaki, Y.; Mattei, M.-G.; Yamaguchi, N.; Olsen, B. R.; Ninomiya, Y.: The complete primary structure of the human alpha-1(VIII) chain and assignment of its gene (COL8A1) to chromosome 3. Europ. J. Biochem. 197: 615-622, 1991.
[0018663]9251.Muragaki, Y.; Shiota, C.; Inoue, M.; Ooshima, A.; Olsen, B. R.; Ninomiya, Y.: Alpha-1(VIII)-collagen gene transcripts encode a short-chain collagen polypeptide and are expressed by various epithelial, endothelial and mesenchymal cells in newborn mouse tissues. Europ. J. Biochem. 207: 895-902, 1992.
[0018664]9252.Schafer, B. W.; Wicki, R.; Engelkamp, D.; Mattei, M.-G.; Heizmann, C. W.: Isolation of a YAC clone covering a cluster of nine S100 genes on human chromosome 1q21: rationale for a new nomenclature of the S100 calcium-binding protein family. Genomics 25: 638-643, 1995.
[0018665]9253.van Heyningen, V.; Emslie, E.; Dorin, J. R.: Related calcium binding proteins map to the same sub-region of chromosome 1q and to an extended region of synteny on mouse chromosome 3. (Abstract) Cytogenet. Cell Genet. 51: 1095, 1989.
[0018666]9254.van Heyningen, V.; Emslie, E.; Dorin, J. R.: Related calcium binding proteins map to the same sub-region of chromosome 1q and to an extended region of synteny on mouse chromosome 3. (Abstract) Cytogenet. Cell Genet. 51: 1095 only, 1989.
[0018667]9255.Buonavista, N.; Balzano, C.; Pontarotti, P.; Le Paslier, D.; Golstein, P.: Molecular linkage of the human CTLA4 and CD28 Ig-superfamily genes in yeast artificial chromosomes. Genomics 13: 856-861, 1992.
[0018668]9256.Howard, T. A.; Rochelle, J. M.; Seldin, M. F.: Cd28 and Ctla-4, two related members of the Ig supergene family, are tightly linked on proximal mouse chromosome 1. Immunogenetics 33: 74-76, 1991.
[0018669]9257.Albertson, D. G.; Ylstra, B.; Segraves, R.; Collins, C.; Dairkee, S. H.; Kowbel, D.; Kuo, W.- L.; Gray, J. W.; Pinkel, D.: Quantitative mapping of amplicon structure by array CGH identifies CYP24 as a candidate oncogene. Nature Genet. 25: 144-146, 2000.
[0018670]9258.Chen, K.-S.; Prahl, J. M.; DeLuca, H. F.: Isolation and expression of human 1,25-dihydroxyvitamin D3 24-hydroxylase cDNA. Proc. Nat. Acad. Sci. 90: 4543-4547, 1993.
[0018671]9259.Hahn, C. N.; Baker, E.; Laslo, P.; May, B. K.; Omdahl, J. L.; Sutherland, G. R.: Localization of the human vitamin D 24-hydroxylase gene (CYP24) to chromosome 20q13.2-q13.3. Cytogenet. Cell Genet. 62: 192-193, 1993.
[0018672]9260.Labuda, M.; Lemieux, N.; Tihy, F.; Prinster, C.; Glorieux, F. H. : Human 25-hydroxyvitamin D 24-hydroxylase cytochrome P450 subunit maps to a different chromosomal location than that of pseudovitamin D-deficient rickets. J. Bone Miner. Res. 8: 1397-1406, 1993.
[0018673]9261.Malas, S.; Peters, J.; Abbott, C.: The genes for endothelin 3, vitamin D 24-hydroxylase, and melanocortin 3 receptor map to distal mouse chromosome 2, in the region of conserved synteny with human chromosome 20. Mammalian Genome 5: 577-579, 1994.
[0018674]9262.Ohyama, Y.; Noshiro, M.; Okuda, K.: Cloning and expression of cDNA encoding 25-hydroxyvitamin D(3) 24-hydroxylase. FEBS Lett. 278: 195-198, 1991.
[0018675]9263.Mendel, D. B.; Khavari, P. A.; Conley, P. B.; Graves, M. K.; Hansen, L. P.; Admon, A.; Crabtree, G. R.: Characterization of a cofactor that regulates dimerization of a mammalian homeodomain protein. Science 254: 1762-1767, 1991.
[0018676]9264.Hogenesch, J. B.; Chan, W. K.; Jackiw, V. H.; Brown, R. C.; Gu, Y.-Z.; Pray-Grant, M.; Perdew, G. H.; Bradfield, C. A.: Characterization of a subset of the basic-helix-loop-helix-PAS superfamily that interacts with components of the dioxin signaling pathway. J. Biol. Chem. 272: 8581-8593, 1997.
[0018677]9265.Wang, G. L.; Jiang, B.-H.; Rue, E. A.; Semenza, G. L.: Hypoxia-inducible factor 1 is a basic-helix-loop-helix-PAS heterodimer regulated by cellular O(2) tension. Proc. Nat. Acad. Sci. 92: 5510-5514, 1995.
[0018678]9266.Neerman-Arbez, M.; de Moerloose, P.; Bridel, C.; Honsberger, A.; Schonborner, A.; Rossier, C.; Peerlinck, K.; Claeyssens, S.; Di Michele, D.; d'Oiron, R.; Dreyfus, M.; Laubriat-Bianchin, M.; Dieval, J.; Antonarakis, S. E.; Morris, M. A.: Mutations in the fibrinogen A-alpha gene account for the majority of cases of congenital afibrinogenemia. Blood 96: 149-152, 2000.
[0018679]9267.Le Beau, M. M.; Lemons, R. S.; Carrino, J. J.; Pettenati, M. J.; Souza, L. M.; Diaz, M. O.; Rowley, J. D.: Chromosomal localization of the human G-CSF gene to 17q11 proximal to the breakpoint of the t(15;17) in acute promyelocytic leukemia. Leukemia 1: 795-799, 1987.
[0018680]9268.Posteraro, P.; Sorvillo, S.; Gagnoux-Palacios, L.; Angelo, C.; Paradisi, M.; Meneguzzi, G.; Castiglia, D.; Zambruno, G.: Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa. Biochem. Biophys. Res. Commun. 243: 758-764, 1998.
[0018681]9269.Pulkkinen, L.; Christiano, A. M.; Gerecke, D.; Wagman, D. W.; Burgeson, R. E.; Pittelkow, M. R.; Uitto, J.: A homozygous nonsense mutation in the beta-3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa. Genomics 24: 357-360, 1994.
[0018682]9270.Pulkkinen, L.; Gerecke, D. R.; Christiano, A. M.; Wagman, D. W.; Burgeson, R. E.; Uitto, J.: Cloning of the beta-3 chain gene (LAMB3) of human laminin 5, a candidate gene in junctional epidermolysis bullosa. Genomics 25: 192-198, 1995.
[0018683]9271.Pulkkinen, L.; Meneguzzi, G.; McGrath, J. A.; Xu, Y.; Blanchet-Bardon, C.; Ortonne, J.-P.; Christiano, A. M.; Uitto, J.: Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy. J. Invest. Derm. 109: 232-237, 1997.
[0018684]9272.Pulkkinen, L.; Uitto, J.: Heterozygosity for premature termination codon mutations in LAMB3 in siblings with non-lethal junctional epidermolysis bullosa. (Letter) J. Invest. Derm. 111: 1244-1245, 1998.
[0018685]9273.Robbins, P. B.; Lin, Q.; Goodnough, J. B.; Tian, H.; Chen, X.; Khavari, P. A.: In vivo restoration of laminin 5 beta-3 expression and function in junctional epidermolysis bullosa. Proc. Nat. Acad. Sci. 98: 5193-5198, 2001.
[0018686]9274.Takizawa, Y.; Pulkkinen, L.; Shimizu, H.; Lin, H.; Hagiwara, S.; Nishikawa, T.; Uitto, J.: Maternal uniparental meroisodisomy in the LAMB3 region of chromosome 1 results in lethal junctional epidermolysis bullosa. J. Invest. Derm. 110: 828-831, 1998.
[0018687]9275.Takizawa, Y.; Shimizu, H.; Pulkkinen, L.; Hiraoka, Y.; McGrath, J. A.; Suzumori, K.; Aiso, S.; Uitto, J.; Nishikawa, T.: Novel mutations in the LAMB3 gene shared by two Japanese unrelated families with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing. J. Invest. Derm. 110: 174-178, 1998.
[0018688]9276.Haaparanta, T.; Uitto, J.; Ruoslahti, E.; Engvall, E.: Molecular cloning of the cDNA encoding human laminin A chain. Matrix 11: 151-160, 1991.
[0018689]9277.Chu, M.-L.; de Wet, W.; Bernard, M.; Ding, J.-F.; Morabito, M.; Myers, J.; Williams, C.; Ramirez, F.: Human pro-alpha-1(I) collagen gene structure reveals evolutionary conservation of a pattern of introns and exons. Nature 310: 337-340, 1984.
[0018690]9278.Cole, W. G.; Chan, D.; Chambers, G. W.; Walker, I. D.; Bateman, J. F.: Deletion of 24 amino acids from the pro-alpha-1(I) chain of type I procollagen in a patient with the Ehlers-Danlos syndrome type VII. J. Biol. Chem. 261: 5496-5503, 1986.
[0018691]9279.Gallagher, P. G.; Forget, B. G.: Structure, organization, and expression of the band 7.2b gene, a candidate gene for hereditary hydrocytosis. J. Biol. Chem. 270: 26358-26363, 1995.
[0018692]9280.Gallagher, P. G.; Romana, M.; Lieman, J. H.; Ward, D. C.: cDNA structure, tissuespecific expression, and chromosomal localization of the murine band 7.2b gene. Blood 86: 359-365, 1995.
[0018693]9281.Gallagher, P. G.; Upender, M.; Ward, D. C.; Forget, B. G.: The gene for human erythrocyte membrane protein band 7.2 (EPB72) maps to 9q33-q34 centromeric to the Philadelphia chromosome translocation breakpoint region. Genomics 18: 167-169, 1993.
[0018694]9282.Hiebl-Dirschmied, C. M.; Entler, B.; Glotzmann, C.; Maurer-Fogy, I.; Stratowa, C.; Prohaska, R.: Cloning and nucleotide sequence of cDNA encoding human erythrocyte band 7 integral membrane protein. Biochim. Biophys. Acta 1090: 123-124, 1991.
[0018695]9283.Pilz, A.; Prohaska, R.; Peters, J.; Abbott, C.: Genetic linkage analysis of the Ak1, Col5a1, Epb7.2, Fpgs, Grp78, Pbx3, and Notch1 genes in the region of mouse chromosome 2 homologous to human chromosome 9q. Genomics 21: 104-109, 1994.
[0018696]9284.Unfried, I.; Entler, B.; Prohaska, R.: The organization of the gene (EPB72) encoding the human erythrocyte band 7 integral membrane protein (protein 7.2b). Genomics 30: 521-528, 1995.
[0018697]9285.Westberg, J. A.; Entler, B.; Prohaska, R.; Schroder, J. P.: The gene coding for erythrocyte protein band 7.2b (EPB72) is located in band q34.1 of human chromosome 9. Cytogenet. Cell Genet. 63: 241-243, 1993.
[0018698]9286.Zhu, Y.; Paszty, C.; Turetsky, T.; Tsai, S.; Kuypers, F. A.; Lee, G.; Cooper, P.; Gallagher, P. G.; Stevens, M. E.; Rubin, E.; Mohandas, N.; Mentzer, W. C.: Stomatocytosis is absent in 'stomatin'-deficient murine red blood cells. Blood 93: 2404-2410, 1999.
[0018699]9287.de la Chapelle, A.; Sistonen, P.; Lehvaslaiho, H.; Ikkala, E.; Juvonen, E.: Familial erythrocytosis genetically linked to erythropoietin receptor gene. Lancet 341: 82-84, 1993.
[0018700]9288.Juvonen, E.; Ikkala, E.; Fyhrquist, F.; Ruutu, T.: Autosomal dominant erythrocytosis caused by increased sensitivity to erythropoietin. Blood 78: 3066-3069, 1991.
[0018701]9289.Neerman-Arbez, M.; Honsberger, A.; Antonarakis, S. E.; Morris, M. A.: Deletion of the fibrogen (sic) alpha-chain gene (FGA) causes congenital afibrogenemia (sic). J. Clin. Invest. 103: 215-218, 1999.
[0018702]9290.Olaisen, B.; Teisberg, P.; Gedde-Dahl, T., Jr.: Fibrinogen gamma chain locus is on chromosome 4 in man. Hum. Genet. 61: 24-26, 1982.
[0018703]9291.Qureshi, G. D.; Evans, H. J.; Vennart, R. M.; Magnant, J. P.; Sabau, J. M.; Willoughby, J. B.; Koehn, J. A.: Fibrinogen White Marsh--a new human fibrinogen variant with alpha chain defect. (Abstract) Clin. Res. 31: 321A only, 1983.
[0018704]9292.Ratnoff, O. D.; Bennett, B.: The genetics of hereditary disorders of blood coagulation. Science 179: 1291-1298, 1973.
[0018705]9293.Reber, P.; Furlan, M.; Beck, E. A.; Barbui, T.: Fibrinogen Bergamo III and fibrinogen Torino: two further variants with hereditary molecular defects in fibrinopeptide A. Thromb. Res. 46: 163-167, 1987.
[0018706]9294.Reber, P.; Furlan, M.; Beck, E. A.; Finazzi, G.; Buelli, M.; Barbui, T.: Fibrinogen Bergamo I (A alpha 16 arg-to-cys): susceptibility towards thrombin following aminoethylation, methylation or carboxamidomethylation of cysteine residues. Thromb. Haemost. 54: 390-393, 1985.
[0018707]9295.Rupp, C.; Beck, E. A.: Congenital dysfibrinogenemia.In: Beck, E. A.; Furlan, M.: Variants of Human Fibrinogen. Berne: Hans Huber (pub.) 1984. Pp. 65-130.
[0018708]9296.Samama, M.; Soria, J.; Soria, C.; Bousser, J.: Dysfibrinogenemie congenitale et familiale sans tendance hemorragique. Nouv. Rev. Franc. Hemat. 9: 817-832, 1969.
[0018709]9297.Siebenlist, K. R.; Prchal, J. T.; Mosesson, M. W.: Fibrinogen Birmingham: a heterozygous dysfibrinogenemia (A alpha 16 arg-to-his) containing heterodimeric molecules. Blood 71: 613-618, 1988.
[0018710]9298.Soria, J.; Soria, C.; Bertrand, O.; Dunn, F.; Drouet, L.; Caen, J. P.: Plasminogen Paris I: congenital abnormal plasminogen and its incidence in thrombosis. Thromb. Res. 32: 229-238, 1983.
[0018711]9299.Soria, J.; Soria, C.; Hedner, U.; Nilsson, I. M.; Bergqvist, D.; Samama, M.: Episodes of increased fibronectin level observed in a patient suffering from recurrent thrombosis related to congenital hypodysfibrinogenaemia (fibrinogen Malmoe). Brit. J. Haemat. 61: 727-738, 1985.
[0018712]9300.Soria, J.; Soria, C.; Samama, M.; Poirot, E.; Kling, C.: Fibrinogen Troyes-fibrinogen Metz: two new cases of congenital dysfibrinogenemia. Thromb. Diath. Haemorrh. 27: 619-633, 1972.
[0018713]9301.Southan, C.; Henschen, A.; Lottspeich, F.: The search for molecular defects in abnormal fibrinogens.In: Henschen, A.; Graeff, H.; Lottspeich, F.: Fibrinogen--Recent Biochemical and Medical Aspects. Berlin: W. de Gruyter (pub.) 1982. Pp. 153-166.
[0018714]9302.Southan, C.; Lane, D. A.; Knight, I.; Ireland, H.; Bottomley, J.: Fibrinogen Manchester: detection of a heterozygous phenotype in the intraplatelet pool. Biochem. J. 229: 723-730, 1985.
[0018715]9303.Streiff, F.; Alexandre, P.; Vigneron, C.; Soria, J.; Soria, C.; Mester, L.: Un nouveau cas d'anomalie constitutionnelle et familiale du fibrinogene sans diathese hemorragique. Thromb. Diath. Haemorrh. 26: 565-576, 1971.
[0018716]9304.Suh, T. T.; Holmback, K.; Jensen, N. J.; Daugherty, C. C.; Small, K.; Simon, D. I.; Potter, S.; Degen, J. L.: Resolution of spontaneous bleeding events but failure of pregnancy in fibrinogendeficient mice. Genes Dev. 9: 2020-2033, 1995.
[0018717]9305.Thomas, A.; Lamlum, H.; Humphries, S.; Green, F.: Linkage disequilibrium across the fibrinogen locus as shown by five genetic polymorphisms, G/A(-455) (HaeIII), C/T(-148) (HindIII/AluI), T/G(+1689) (AvaII), and BclI (beta-fibrinogen) and TaqI (alpha-fibrinogen), and their detection by PCR. Hum. Mutat. 3: 79-81, 1994.
[0018718]9306.Uemichi, T.; Liepnieks, J. J.; Alexander, F.; Benson, M. D.: The molecular basis of renal amyloidosis in Irish-American and Polish-Canadian kindreds. Quart. J. Med. 89: 745-750, 1996.
[0018719]9307.Uemichi, T.; Liepnieks, J. J.; Benson, M. D.: Fibrinogen Indianapolis: a fibrinogen Aalpha chain associated with hereditary amyloidosis. (Abstract) Clin. Res. 41: 133 only, 1993.
[0018720]9308.Uemichi, T.; Liepnieks, J. J.; Benson, M. D.: Hereditary renal amyloidosis with a novel variant fibrinogen. J. Clin. Invest. 93: 731-736, 1994.
[0018721]9309.Uemichi, T.; Liepnieks, J. J.; Yamada, T.; Gertz, M. A.; Bang, N.; Benson, M. D.: A frame shift mutation in the fibrinogen A-alpha chain gene in a kindred with renal amyloidosis. Blood 87: 4197-4203, 1996.
[0018722]9310.Uemichi, T.; Liepnieks, J. J.; Yamada, T.; Gertz, M. A. Bang, N.; Benson, M. D.: A frame shift mutation in the fibrinogen A-alpha chain gene in a kindred with renal amyloidosis. Blood 87: 4197-4203, 1996.
[0018723]9311.Uzan, G.; Besmond, C.; Kahn, A.; Marguerie, G.: Cell free translation of messenger RNA for human fibrinogen. Biochem. Int. 4: 271-278, 1982. 100. Uzan, G.; Courtois, G.; Besmond, C.; Frain, M.; Sala-Trepat, J.; Kahn, A.; Marguerie, G.: Analysis of fibrinogen genes in patients with congenital afibrinogenemia. Biochem. Biophys. Res. Commun. 120: 376-383, 1984. 101. Verhaeghe, R.; Verstraete, M.; Vermylen, J.; Vermylen, C.: Fibrinogen 'Leuven', another genetic variant. Brit. J. Haemat. 26: 421-434, 1974. 102. Verstraete, M.: Discussion. Thromb. Diath. Haemorrh. 39 (suppl.): 334-337, 1970. 103. Vogel, F.; Motulsky, A. G.: Human Genetics: Problems and Approaches. New York: Springer-Verlag (pub.) 1979. Pp. 262 only. 104. von Felton, A.; Duckert, F.; Frick, P. G.: Familial disturbance of fibrin monomer aggregation. Brit. J. Haemat. 12: 667-677, 1966. 105. Wehinger, H.; Klinge, O.; Alexandrakis, E.; Schurmann, J.; Witt, J.; Seydewitz, H. H.: Hereditary hypofibrinogenemia with fibrinogen storage in the liver. Europ. J. Pediat. 141: 109-112, 1983. 106. Winckelmann, G.; Augustin, R.; Bandilla, K.: Congenital dysfibrinogenemia: report of a new family (fibrinogen Wiesbaden).In: Abstracts, International Society on Thrombosis and Haemostasis. Oslo: Villco Trykkeri (pub.) 1971. Pp. 64 only. 107. Xiao, Q.; Danton, M. J. S.; Witte, D. P.; Kowala, M. C.; Valentine, M. T.; Degen, J. L.: Fibrinogen deficiency is compatible with the development of atherosclerosis in mice. J. Clin. Invest. 101: 1184-1194, 1998. 108. Yoshida, N.; Okuma, M.; Hirata, H.; Matsuda, M.; Yamazumi, K.; Asakura, S.: Fibrinogen Kyoto II, a new congenitally abnormal molecule, characterized by the replacement of A-alpha proline-18 by leucine. Blood 78: 149-153, 1991. 109. Zietz, B. H.; Scott, J. L.: An inherited defect in fibrinogen polymerization: fibrinogen Los Angeles. (Abstract) Clin. Res. 18: 179 only, 1970.
[0018724]9312.Alward, W. L. M.; Semina, E. V.; Kalenak, J. W.; Heon, E.; Sheth, B. P.; Stone, E. M.; Murray, J. C.: Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene. Am. J. Ophthal. 125: 98-100, 1998.
[0018725]9313.Heon, E.; Sheth, B. P.; Kalenak, J. W.; Sunden, S. L. F.; Streb, L. M.; Taylor, C. M.; Alward, W. L. M.; Sheffield, V. C.; Stone, E. M.: Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25). Hum. Molec. Genet. 4: 1435-1439, 1995.
[0018726]9314.Kulak, S. C.; Kozlowski, K.; Semina, E. V.; Pearce, W. G.; Walter, M. A.: Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome. Hum. Molec. Genet. 7: 1113-1117, 1998.
[0018727]9315.Walter, M. A.; Mirzayans, F.; Mears, A. J.; Hickey, K.; Pearce, W. G.: Autosomaldominant iridogoniodysgenesis and Axenfeld-Rieger syndrome are genetically distinct. Ophthalmology 103: 1907-1915, 1996.
[0018728]9316.Metcalf, D.: The granulocyte-macrophage colony-stimulating factors. Science 229: 16-22, 1985.
[0018729]9317.Nagata, S.; Tsuchiya, M.; Asano, S.; Kaziro, Y.; Yamazaki, T.; Yamamoto, O.; Hirata, Y.; Kubota, N.; Oheda, M.; Nomura, H.; Ono, M.: Molecular cloning and expression of cDNA for the human granulocyte colony-stimulating factor. Nature 319: 415-418, 1986.
[0018730]9318.Nagata, S.; Tsuchiya, M.; Asano, S.; Yamamoto, O.; Hirata, Y.; Kubota, N.; Oheda, M.; Nomura, H.; Yamazaki, T.: The chromosomal gene structure and two mRNAs for human granulocyte colony-stimulating factor. EMBO J. 5: 575-581, 1986.
[0018731]9319.Petit, I.; Szyper-Kravitz, M.; Nagler, A.; Lahav, M.; Peled, A.; Habler, L.; Ponomaryov, T.; Taichman, R. S.; Arenzana-Seisdedos, F.; Fujii, N.; Sandbank, J.; Zipori, D.; Lapidot, T.: G-CSF induces stem cell mobilization by decreasing bone marrow SDF-1 and up-regulating CXCR4. Nature Immun. 3: 687-694, 2002.
[0018732]9320.Simmers, R. N.; Smith, J.; Shannon, M. F.; Wong, G.; Lopez, A. F.; Baker, E.; Sutherland, G. R.; Vadas, M. A.: Localization of the human G-CSF gene to the region of a breakpoint in the translocation typical of acute promyelocytic leukemia. Hum. Genet. 78: 134-136, 1988.
[0018733]9321.Souza, L. M.; Boone, T. C.; Gabrilove, J.; Lai, P. H.; Zsebo, K. M.; Murdock, D. C.; Chazin, V. R.; Bruszewski, J.; Lee, H.; Chen, K. K.; Barendt, J.; Platzer, E.; Moore, M. A. S.; Mertelsmann, R.; Welte, K.: Recombinant human granulocyte colony-stimulating factor: effects on normal and leukemic myeloid cells. Science 232: 61-65, 1986.
[0018734]9322.Sudo, S.; Yamada, H.; Kikuchi, K.; Sumie, A.; Yamashita, Y.; Tumura, N.; Kawaguchi, I.; Fujimoto, S.; Kato, A.; Yamaguchi, J.: A case of ovarian carcinoma with production of granulocyte colony-stimulating factor. Brit. J. Haemat. 92: 137-139, 1996.
[0018735]9323.Tse, W.; Zhu, W.; Chen, H. S.; Cohen, A.: A novel gene, AF1q, fused to MLL in t(1;11)(q21;q23), is specifically expressed in leukemic and immature hematopoietic cells. Blood 85: 650-656, 1995.
[0018736]9324.Scott, M. P.: Vertebrate homeobox gene nomenclature. Cell 71: 551-553, 1992.
[0018737]9325.Carr, D. W.; Hausken, Z. E.; Fraser, I. D.; Stofko-Hahn, R. E.; Scott, J. D: Association of the type II cAMP-dependent protein kinase with a human thyroid RII-anchoring protein: cloning and characterization of the RII-binding domain. J. Biol. Chem. 267: 13376-13382, 1992.
[0018738]9326.Carr, D. W.; Stofko-Hahn, R. E.; Fraser, I. D.; Bishop, S. M.; Acott, T. S.; Brennan, R. G.; Scott, J. D.: Interaction of the regulatory subunit (RII) of cAMP-dependent protein kinase with RIIanchoring proteins occurs through an amphipathic helix binding motif. J. Biol. Chem. 266: 14188-14192, 1991.
[0018739]9327.Rubino, D.; Driggers, P.; Arbit, D.; Kemp, L.; Miller, B.; Coso, O.; Pagliai, K.; Gray, K.; Gutkind, S.; Segars, J.: Characterization of Brx, a novel Dbl family member that modulates estrogen receptor action. Oncogene 16: 2513-2526, 1998.
[0018740]9328.Sterpetti, P.; Hack, A. A.; Bashar, M. P.; Park, B.; Cheng, S.-D.; Knoll, J. H. M.; Urano, T.; Feig, L. A.; Toksoz, D.: Activation of the Lbc Rho exchange factor proto-oncogene by truncation of an extended C terminus that regulates transformation and targeting. Molec. Cell. Biol. 19: 1334-1345, 1999.
[0018741]9329.Toksoz, D.; Williams, D. A.: Novel human oncogene lbc detected by transfection with distinct homology regions to signal transduction products. Oncogene 9: 621-628, 1994.
[0018742]9330.Hirai, H.; Tanaka, K.; Yoshie, O.; Ogawa, K.; Kenmotsu, K.; Takamori, Y.; Ichimasa, M.; Sugamura, K.; Nakamura, M.; Takano, S.; Nagata, K.: Prostaglandin D2 selectively induces chemotaxis in T helper type 2 cells, eosinophils, and basophils via seven-transmembrane receptor CRTH2. J. Exp. Med. 193: 255-261, 2001.
[0018743]9331.Margolis, R. L.; O'Hearn, E.; Rosenblatt, A.; Willour, V.; Holmes, S. E.; Franz, M. L.; Callahan, C.; Hwang, H. S.; Troncoso, J. C.; Ross, C. A.: A disorder similar to Huntington's disease is associated with a novel CAG repeat expansion. Ann. Neurol. 50: 373-380, 2001.
[0018744]9332.Lacy, S. E.; Bonnemann, C. G.; Buzney, E. A.; Kunkel, L. M.: Identification of FLRT1, FLRT2, and FLRT3: a novel family of transmembrane leucine-rich repeat proteins. Genomics 62: 417-426, 1999.
[0018745]9333.Borges, L.; Hsu, M.-L.; Fanger, N.; Kubin, M.; Cosman, D.: A family of human lymphoid and myeloid Ig-like receptors, some of which bind to MHC class I molecules. J. Immun. 159: 5192-5196, 1997.
[0018746]9334.Andre, P.; Biassoni, R.; Colonna, M.; Cosman, D.; Lanier, L. L.; Long, E. O.; Lopez-Botet, M.; Moretta, A.; Moretta, L.; Parham, P.; Trowsdale, J.; Vivier, E.; Wagtmann, N.; Wilson, M. J.: New nomenclature for MHC receptors. Nature Immun. 2: 661 only, 2001.
[0018747]9335.Banham, A. H.; Colonna, M.; Cella, M.; Micklem, K. J.; Pulford, K.; Willis, A. C.; Mason, D. Y.: Identification of the CD85 antigen as ILT2, an inhibitory MHC class I receptor of the immunoglobulin superfamily. J. Leukoc. Biol. 65: 841-845, 1999.
[0018748]9336.Colonna, M.; Navarro, F.; Bellon, T.; Llano, M.; Garcia, P.; Samaridis, J.; Angman, L.; Cella, M.; Lopez-Botet, M.: A common inhibitory receptor for major histocompatibility complex class I molecules on human lymphoid and myelomonocytic cells. J. Exp. Med. 186: 1809-1818, 1997.
[0018749]9337.Fenster, S. D.; Chung, W. J.; Zhai, R.; Cases-Langhoff, C.; Voss, B.; Garner, A. M.; Kaempf, U.; Kindler, S.; Gundelfinger, E. D.; Garner, C. C.: Piccolo, a presynaptic zinc finger protein structurally related to Bassoon. Neuron 25: 203-214, 2000.
[0018750]9338.Tung, R. M.; Blenis, J.: A novel human SPS1/STE20 homologue, KHS, activates Jun Nterminal kinase. Oncogene 14: 653-659, 1997.
[0018751]9339.Redeker, E.; Hoovers, J. M.; Alders, M.; van Moorsel, C. J.; Ivens, A. C.; Gregory, S.; Kalikin, L.; Bliek, J.; de Galan, L.; van den Bogaard, R.; Visser, J.; van der Voort, R.; Feinberg, A. P.; Little, P. F. R.; Westerveld, A.; Mannens, M.: An integrated physical map of 210 markers assigned to the short arm of human chromosome 11. Genomics 21: 538-550, 1994.
[0018752]9340.Rosnet, O.; Mattei, M.-G.; Delattre, O.; Schiff, C.: VPREB3: cDNA characterization and expression in human and chromosome mapping in human and mouse. Cytogenet. Cell Genet. 87: 205-208, 1999.
[0018753]9341.Hayashi, T.; Huang, J.; Deeb, S. S.: RINX(VSX1), a novel homeobox gene expressed in the inner nuclear layer of the adult retina. Genomics 67: 128-139, 2000.
[0018754]9342.Ohtoshi, A.; Justice, M. J.; Behringer, R. R.: Isolation and characterization of Vsx1, a novel mouse CVC paired-like homeobox gene expressed during embryogenesis and in the retina. Biochem. Biophys. Res. Commun. 286: 133-140, 2001.
[0018755]9343.Semina, E. V.; Mintz-Hittner, H. A.; Murray, J. C.: Isolation and characterization of a novel human paired-like homeodomain-containing transcription factor gene, VSX1, expressed in ocular tissues. Genomics 63: 289-293, 2000.
[0018756]9344.Jones, J. M.; Morrell, J. C.; Gould, S. J.: Identification and characterization of HAOX1, HAOX2, and HAOX3, three human peroxisomal 2-hydroxy acid oxidases. J. Biol. Chem. 275: 12590-12597, 2000.
[0018757]9345.Martignetti, J. A.; Al Aqeel, A.; Al Sewairi, W.; Boumah, C. E.; Kambouris, M.; Al Mayouf, S.; Sheth, K. V.; Al Eid, W.; Dowling, O.; Harris, J.; Glucksman, M. J.; Bahabri, S.; Meyer, B. F.; Desnick, R. J.: Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome. Nature Genet. 28: 261-265, 2001.
[0018758]9346.Horikoshi, N.; Cong, J.; Kley, N.; Shenk, T.: Isolation of differentially expressed cDNAs from p53-dependent apoptotic cells: activation of the human homologue of the Drosophila peroxidasin gene. Biochem. Biophys. Res. Commun. 261: 864-869, 1999.
[0018759]9347.Weiler, S. R.; Taylor, S. M.; Deans, R. J.; Kan-Mitchell, J.; Mitchell, M. S.; Trent, J. M.: Assignment of a human melanoma associated gene MG50 (D2S448) to chromosome 2p25.3 by fluorescence in situ hybridization. Genomics 22: 243-244, 1994.
[0018760]9348.Matloubian, M.; David, A.; Engel, S.; Ryan, J. E.; Cyster, J. G. : A transmembrane CXC chemokine is a ligand for HIV-coreceptor Bonzo. Nature Immun. 1: 298-304, 2000.
[0018761]9349.Fedele, M.; Benvenuto, G.; Pero, R.; Majello, B.; Battista, S.; Lembo, F.; Vollono, E.; Day, P. M.; Santoro, M.; Lania, L.; Bruni, C. B.; Fusco, A.; Chiariotti, L.: A novel member of the BTB/POZ family, PATZ, associates with the RNF4 RING finger protein and acts as a transcriptional repressor. J. Biol. Chem. 275: 7894-7901, 2000.
[0018762]9350.Kobayashi, A.; Yamagiwa, H.; Hoshino, H.; Muto, A.; Sato, K.; Morita, M.; Hayashi, N.; Yamamoto, M.; Igarashi, K.: A combinatorial code for gene expression generated by transcription factor Bach2 and MAZR (MAZ-related factor) through the BTB/POZ domain. Molec. Cell. Biol. 20: 1733-1746, 2000.
[0018763]9351.McAleer, M. A.; Breen, M. A.; White, N. L.; Matthews, N.: pABC11 (also known as MOAT-C and MRP5), a member of the ABC family of proteins, has anion transporter activity but does not confer multidrug resistance when overexpressed in human embryonic kidney 293 cells. J. Biol. Chem. 274: 23541-23548, 1999.
[0018764]9352.Oguri, T.; Isobe, T.; Suzuki, T.; Nishio, K.; Fujiwara, Y.; Katoh, O.; Yamakido, M.: Increased expression of the MRP5 gene is associated with exposure to platinum drugs in lung cancer. Int. J. Cancer 86: 95-100, 2000.
[0018765]9353.Suzuki, T.; Nishio, K.; Sasaki, H.; Kurokawa, H.; Saito-Ohara, F.; Ikeuchi, T.; Tanabe, S.; Terada, M.; Saijo, N.: cDNA cloning of a short type of multidrug resistance protein homologue, SMRP, from a human lung cancer cell line. Biochem. Biophys. Res. Commun. 238: 790-794, 1997.
[0018766]9354.Suzuki, T.; Sasaki, H.; Kuh, H.-J.; Agui, M.; Tatsumi, Y.; Tanabe, S.; Terada, M.; Saijo, N.; Nishio, K.: Detailed structural analysis on both human MRP5 and mouse mrp5 transcripts. Gene 242: 167-173, 2000.
[0018767]9355.Wijnholds, J.; Mol, C. A. A. M.; van Deemter, L.; de Haas, M.; Scheffer, G. L.; Baas, F.; Beijnen, J. H.; Scheper, R. J.; Hatse, S.; De Clercq, E.; Balzarini, J.; Borst, P.: Multidrug-resistance protein 5 is a multispecific organic anion transporter able to transport nucleotide analogs. Proc. Nat. Acad. Sci. 97: 7476-7481, 2000.
[0018768]9356.Tateishi, S.; Sakuraba, Y.; Masuyama, S.; Inoue, H.; Yamaizumi, M.: Dysfunction of human Rad18 results in defective postreplication repair and hypersensitivity to multiple mutagens. Proc. Nat. Acad. Sci. 97: 7927-7932, 2000.
[0018769]9357.Arakawa, H.; Hauschild, J.; Buerstedde, J.-M.: Requirement of the activation-induced deaminase (AID) gene for immunoglobulin gene conversion. Science 295: 1301-1306, 2002.
[0018770]9358.Fagarasan, S.; Kinoshita, K.; Muramatsu, M.; Ikuta, K.; Honjo, T.: In situ class switching and differentiation to IgA producing cells in the gut lamina propria. Nature 413: 639-643, 2001.
[0018771]9359.Muramatsu, M.; Kinoshita, K.; Fagarasan, S.; Yamada, S.; Shinkai, Y.; Honjo, T.: Class switch recombination and hypermutation require activation-induced cytidine deaminase (AID), a potential RNA editing enzyme. Cell 102: 553-563, 2000.
[0018772]9360.Muramatsu, M.; Sankaranand, V. S.; Anant, S.; Sugai, M.; Kinoshita, K.; Davidson, N. O.; Honjo, T.: Specific expression of activation-induced cytidine deaminase (AID), a novel member of the RNA-editing deaminase family in germinal center B cells. J. Biol. Chem. 274: 18470-18476, 1999.
[0018773]9361.Rowley, D. R.; Tindall, D. J.: Responses of NBT-II bladder carcinoma cells to conditioned medium from normal fetal urogenital sinus. Cancer Res. 47: 2955-2960, 1987.
[0018774]9362.Kasaian, M. T.; Whitters, M. J.; Carter, L. L.; Lowe, L. D.; Jussif, J. M.; Deng, B.; Johnson, K. A.; Witek, J. S.; Senices, M.; Konz, R. F.; Wurster, A. L.; Donaldson, D. D.; Collins, M.; Young, D. A.; Grusby, M. J.: IL-21 limits NK cell responses and promotes antigen-specific T cell activation: a mediator of the transition from innate to adaptive immunity. Immunity 16: 559-569, 2002.
[0018775]9363.Brattsand, M.; Egelrud, T.: Purification, molecular cloning, and expression of a human stratum corneum trypsin-like serine protease with possible function in desquamation. J. Biol. Chem. 274: 30033-30040, 1999.
[0018776]9364.Choglay, A. A.; Chapple, J. P.; Blatch, G. L.; Cheetham, M. E. : Identification and characterization of a human mitochondrial homologue of the bacterial co-chaperone GrpE. Gene 267: 125-134, 2001.
[0018777]9365.Zheng, P.; Eastman, J.; Vande Pol, S.; Pimplikar, S. W.: PAT1, a microtubuleinteracting protein, recognizes the basolateral sorting signal of amyloid precursor protein. Proc. Nat. Acad. Sci. 95: 14745-14750, 1998.
[0018778]9366.De Valck, D.; Jin, D. Y.; Heyninck, K.; Van de Craen, M.; Contreras, R.; Fiers, W.; Jeang, K. T.; Beyaert, R.: The zinc finger protein A20 interacts with a novel anti-apoptotic protein which is cleaved by specific caspases. Oncogene 18: 4182-4190, 1999.
[0018779]9367.Gachon, F.; Peleraux, A.; Thebault, S.; Dick, J.; Lemasson, I.; Devaux, C.; Mesnard, J.-M.: CREB-2, a cellular CRE-dependent transcription repressor, functions in association with tax as an activator of the human T-cell leukemia virus type 1 promoter. J. Virol. 72: 8332-8337, 1998.
[0018780]9368.Ling, L.; Goeddel, D. V.: T6BP, a TRAF6-interacting protein involved in IL-1 signaling. Proc. Nat. Acad. Sci. 97: 9567-9572, 2000.
[0018781]9369.Cowell, I. G.; Skinner, A.; Hurst, H. C.: Transcriptional repression by a novel member of the bZIP family of transcription factors. Molec. Cell. Biol. 12: 3070-3077, 1992.
[0018782]9370.Hulme, D. J.; Blair, I. P.; Dawkins, J. L.; Nicholson, G. A.: Exclusion of NFIL3 as the gene causing hereditary sensory neuropathy type I by mutation analysis. Hum. Genet. 106: 594-596, 2000.
[0018783]9371.Ikushima, S.; Inukai, T.; Inaba, T.; Nimer, S. D.; Cleveland, J. L.; Look, A. T.: Pivotal role for the NFIL3/E4BP4 transcription factor in interleukin 3-mediated survival of pro-B lymphocytes. Proc. Nat. Acad. Sci. 94: 2609-2614, 1997.
[0018784]9372.Zhang, W.; Zhang, J.; Kornuc, M.; Kwan, K.; Frank, R.; Nimer, S. D.: Molecular cloning and characterization of NF-IL3A, a transcriptional activator of the human interleukin-3 promoter. Molec. Cell. Biol. 15: 6055-6063, 1995.
[0018785]9373.Ozaki, K.; Kikly, K.; Michalovich, D.; Young, P. R.; Leonard, W. J.: Cloning of a type I cytokine receptor most related to the IL-2 receptor beta chain. Proc. Nat. Acad. Sci. 97: 11439-11444, 2000.
[0018786]9374.Parrish-Novak, J.; Dillon, S. R.; Nelson, A.; Hammond, A.; Sprecher, C.; Gross, J. A.; Johnston, J.; Madden, K.; Xu, W.; West, J.; Schrader, S.; Burkhead, S.; and 26 others: Interleukin 21 and its receptor are involved in NK cell expansion and regulation of lymphocyte function. Nature 408: 57-63, 2000.
[0018787]9375.Reither, A.; Hehlmann, R.; Goldman, J. M.; Cross, N. C.: The 8p11 myeloproliferative syndrome. Med. Klin. 94: 207-210, 1999.
[0018788]9376.Bartholin, L.; Maguer-Satta, V.; Hayette, S.; Martel, S.; Gadoux, M.; Bertrand, S.; Corbo, L.; Lamadon, C.; Morera, A.-M.; Magaud, J.-P.; Rimokh, R.: FLRG, an activin-binding protein, is a new target of TGF-beta transcription activation through Smad proteins. Oncogene 20: 5409-5419, 2001.
[0018789]9377.Rimokh, R.; Berger, F.; Delsol, G.; Charrin, C.; Bertheas, M. F.; Ffrench, M.; Garoscio, M.; Felman, P.; Coiffier, C.; Bryon, P. A. : Rearrangement and overexpression of the BCL-1/PRAD-1 gene in intermediate lymphocytic lymphomas and in t(11q13)-bearing leukemias. Blood 81: 3063-3067, 1993.
[0018790]9378.Bahou, W. F.; Campbell, A. D.; Wicha, M. S.: cDNA cloning and molecular characterization of MSE55, a novel human serum constituent protein that displays bone marrow stromal/endothelial cell-specific expression. J. Biol. Chem. 267: 13986-13992, 1992.
[0018791]9379.Burbelo, P. D.; Drechsel, D.; Hall, A.: A conserved binding motif defines numerous candidate target proteins for both Cdc42 and Rac GTPases. J. Biol. Chem. 270: 29071-29074, 1995.
[0018792]9380.Hermey, G.; Riedel, I. B.; Hampe, W.; Schaller, H. C.; Hermans-Borgmeyer, I.: Identification and characterization of SorCS, a third member of a novel receptor family. Biochem. Biophys. Res. Commun. 266: 347-351, 1999.
[0018793]9381.Rezgaoui, M.; Hermey, G.; Riedel, I. B.; Hampe, W.; Schaller, H. C.; Hermans-Borgmeyer, I.: Identification of SorCS2, a novel member of the VPS10 domain containing receptor family, prominently expressed in the developing mouse brain. Mech. Dev. 100: 335-338, 2001.
[0018794]9382.Oda, K.; Arakawa, H.; Tanaka, T.; Matsuda, K.; Tanikawa, C.; Mori, T.; Nishimori, H.; Tamai, K.; Tokino, T.; Nakamura, Y.; Taya, Y.: p53AIP1, a potential mediator of p53-dependent apoptosis, and its regulation by Ser-46-phosphorylated p53. Cell 102: 849-862, 2000.
[0018795]9383.Strotmann, R.; Harteneck, C.; Nunnenmacher, K.; Schultz, G.; Plant, T. D: OTRPC4, a nonselective cation channel that confers sensitivity to extracellular osmolarity Nature Cell. Biol. 2: 695-702, 2000.
[0018796]9384.Wissenbach, U.; Bodding, M.; Freichel, M.; Flockerzi, V.: Trp12, a novel Trp related protein from kidney FEBS Lett. 485: 127-134, 2000.
[0018797]9385.Baron, C. L.; Malhotra, V.: Role of diacylglycerol in PKD recruitment to the TGN and protein transport to the plasma membrane. Science 295: 325-328, 2002.
[0018798]9386.Jamora, C.; Yamanouye, N.; Van Lint, J.; Laudenslager, J.; Vandenheede, J. R.; Faulkner, D. J.; Malhotra, V.: G-beta-gamma-mediated regulation of Golgi organization is through the direct activation of protein kinase D. Cell 98: 59-68, 1999.
[0018799]9387.Johannes, F.-J.; Prestle, J.; Eis, S.; Oberhagemann, P.; Pfizenmaier, K.: PKC-mu is a novel, atypical member of the protein kinase C family. J. Biol. Chem. 269: 6140-6148, 1994.
[0018800]9388.Maeda, Y.; Beznoussenko, G. V.; Van Lint, J.; Mironov, A. A.; Malhotra, V.: Recruitment of protein kinase D to the trans-Golgi network via the first cysteine-rich domain. EMBO J. 20: 5982-5990, 2001.
[0018801]9389.Owczarek, C. M.; Portbury, K. J.; Kola, I.; Hertzog, P. J.: Assignment of protein kinase C mu (PRKCM) to human chromosome band 14q11 with somatic cell hybrids and radiation hybrids. Cytogenet. Cell Genet. 89: 240-241, 2000.
[0018802]9390.Ouchi, N.; Kihara, S.; Arita, Y.; Okamoto, Y.; Maeda, K.; Kuriyama, H.; Hotta, K.; Nishida, M.; Takahashi, M.; Muraguchi, M.; Ohmoto, Y.; Nakamura, T.; Yamashita, S.; Funahashi, T.; Matsuzawa, Y.: Adiponectin, an adipocyte-derived plasma protein, inhibits endothelial NF-kappa-B signaling through a cAMP-dependent pathway. Circulation 102: 1296-1301, 2000.
[0018803]9391.Schaffler, A.; Orso, E.; Palitzsch, K.-D.; Buchler, C.; Drobnik, W.; Furst, A.; Scholmerich, J.; Schmitz, G.: The human apM-1, an adipocyte-specific gene linked to the family of TNF's and to genes expressed in activated T cells, is mapped to chromosome 1q21.3-q23, a susceptibility locus identified for familial combined hyperlipidaemia (FCH). Biochem. Biophys. Res. Commun. 260: 416-425, 1999.
[0018804]9392.Gong, T.-W. L.; Burmeister, M.; Lomax, M. I.: The novel gene D4Mil1e maps to mouse chromosome 4 and human chromosome 1p36. Mammalian Genome 7: 790-791, 1996.
[0018805]9393.Nangaku, M.; Sato-Yoshitake, R.; Okada, Y.; Noda, Y.; Takemura, R.; Yamazaki, H.; Hirokawa, N.: KIF1B, a novel microtubule plus end-directed monomeric motor protein for transport of mitochondria. Cell 79: 1209-1220, 1994.
[0018806]9394.Saito, M.; Hayashi, Y.; Suzuki, T.; Tanaka, H.; Hozumi, I.; Tsuji, S.: Linkage mapping of the gene for Charcot-Marie-Tooth disease type 2 to chromosome 1p (CMT2A) and the clinical features of CMT2A. Neurology 49: 1630-1635, 1997.
[0018807]9395.Yang, H. W.; Chen, Y. Z.; Takita, J.; Soeda, E.; Piao, H. Y.; Hayashi, Y.: Genomic structure and mutational analysis of the human KIF1B gene which is homozygously deleted in neuroblastoma at chromosome 1p36.2. Oncogene 20: 5075-5083, 2001.
[0018808]9396.Hu, P.; Yu, L.; Zhang, M.; Zheng, L.; Zhao, Y.; Fu, Q.; Zhao, S. : Molecular cloning and mapping of the brain-abundant B1-gamma subunit of protein phosphatase 2A, PPP2R2C, to human chromosome 4p16. Genomics 67: 83-86, 2000.
[0018809]9397.Clark, R. M.; Marker, P. C.; Kingsley, D. M.: A novel candidate gene for mouse and human preaxial polydactyly with altered expression in limbs of hemimelic extra-toes mutant mice. Genomics 67: 19-27, 2000.
[0018810]9398.Knudsen, T. B.; Kochhar, D. M.: The role of morphogenetic cell death during abnormal limb-bud outgrowth in mice heterozygous for the dominant mutation hemimelia-extra toe (Hmx). J. Embryol. Exp. Morphol. 65 (suppl.): 289-307, 1981.
[0018811]9399.Matsuda, S.; Kawamura-Tsuzuku, J.; Ohsugi, M.; Yoshida, M.; Emi, M.; Nakamura, Y.; Onda, M.; Yoshida, Y.; Nishiyama, A.; Yamamoto, T.: Tob, a novel protein that interacts with p185erbB2, is associated with anti-proliferative activity. Oncogene 12: 705-713, 1996.
[0018812]9400.Tzachanis, D.; Freeman, G. J.; Hirano, N.; van Puijenbroek, A. A. F. L.; Delfs, M. W.; Berezovskaya, A.; Nadler, L. M.; Boussiotis, V. A.: Tob is a negative regulator of activation that is expressed in anergic and quiescent T cells. Nature Immun. 2: 1174-1182, 2001.
[0018813]9401.Yoshida, Y.; Tanaka, S.; Umemori, H.; Minowa, O.; Usui, M.; Ikematsu, N.; Hosoda, E.; Imamura, T.; Kuno, J.; Yamashita, T.; Miyazono, K.; Noda, M.; Noda, T.; Yamamoto, T.: Negative regulation of BMP/Smad signaling by Tob in osteoblasts. Cell 103: 1085-1097, 2000.
[0018814]9402.Dell'Angelica, E. C.; Puertollano, R.; Mullins, C.; Aguilar, R. C.; Vargas, J. D.; Hartnell, L. M.; Bonifacino, J. S.: GGAs: a family of ADP ribosylation factor-binding proteins related to adaptors and associated with the Golgi complex. J. Cell Biol. 149: 81-93, 2000.
[0018815]9403.Hirst, J.; Lui, W. W. Y.; Bright, N. A.; Totty, N.; Seaman, M. N. J.; Robinson, M. S.: A family of proteins with gamma-adaptin and VHS domains that facilitate trafficking between the trans-Golgi network and the vacuole/lysosome. J. Cell Biol. 149: 67-69, 2000.
[0018816]9404.Blumberg, H.; Conklin, D.; Xu, W.; Grossmann, A.; Brender, T.; Carollo, S.; Eagan, M.; Foster, D.; Haldeman, B. A.; Hammond, A.; Haugen, H.; Jelinek, L.; and 14 others: Interleukin 20: discovery, receptor identification, and role in epidermal function. Cell 104: 9-19, 2001.
[0018817]9405.Huang, E. Y.; Madireddi, M. T.; Gopalkrishnan, R. V.; Leszczyniecka, M.; Su, Z.; Lebedeva, I. V.; Kang, D.; Jiang, H.; Lin, J. J.; Alexandre, D.; Chen, Y.; Vozhilla, N.: and 9 others: Genomic structure, chromosomal localization and expression profile of a novel melanoma differentiation associated (mda-7) gene with cancer specific growth suppressing and apoptosis inducing properties. Oncogene 20: 7051-7063, 2001.
[0018818]9406.Jiang, H.; Lin, J. J.; Su, Z.-Z.; Goldstein, N. I.; Fisher, P. B.: Subtraction hybridization identifies a novel melanoma differentiation associated gene, mda-7, modulated during human melanoma differentiation, growth and progression. Oncogene 11: 2477-2486, 1995.
[0018819]9407.Jiang, H.; Su, Z.-Z.; Lin, J. J.; Goldstein, N. I.; Young, C. S. H.; Fisher, P. B.: The melanoma differentiation associated gene mda-7 suppresses cancer cell growth. Proc. Nat. Acad. Sci. 93: 9160-9165, 1996.
[0018820]9408.Su, Z.; Madireddi, M. T.; Lin, J. J.; Young, C. S. H.; Kitada, S.; Reed, J. C.; Goldstein, N. I.; Fisher, P. B.: The cancer growth suppressor gene mda-7 selectively induces apoptosis in human breast cancer cells and inhibits tumor growth in nude mice. Proc. Nat. Acad. Sci. 95: 14400-14405, 1998.
[0018821]9409.Cheng, Y.; Lotan, R.: Molecular cloning and characterization of a novel retinoic acidinducible gene that encodes a putative G protein-coupled receptor. J. Biol. Chem. 273: 35008-35015, 1998.
[0018822]9410.Mansour, S. J.; Skaug, J.; Zhao, X.-H.; Giordano, J.; Scherer, S. W.; Melancon, P.: p200 ARF-GEP1: a Golgi-localized guanine nucleotide exchange protein whose Sec7 domain is targeted by the drug brefeldin A. Proc. Nat. Acad. Sci. 96: 7968-7973, 1999.
[0018823]9411.Morinaga, N.; Moss, J.; Vaughan, M.: Cloning and expression of a cDNA encoding a bovine brain brefeldin A-sensitive guanine nucleotide-exchange protein for ADP-ribosylation factor. Proc. Nat. Acad. Sci. 94: 12926-12931, 1997.
[0018824]9412.Morinaga, N.; Tsai, S.-C.; Moss, J.; Vaughan, M.: Isolation of a brefeldin A-inhibited guanine nucleotide-exchange protein for ADP ribosylation factor (ARF) 1 and ARF3 that contains a Sec7-like domain. Proc. Nat. Acad. Sci. 93: 12856-12860, 1996.
[0018825]9413.Togawa, A.; Morinaga, N.; Ogasawara, M.; Moss, J.; Vaughan, M. : Purification and cloning of a brefeldin A-inhibited guanine nucleotide-exchange protein for ADP-ribosylation factors. J. Biol. Chem. 274: 12308-12315, 1999.
[0018826]9414.Zou, H.; McGarry, T. J.; Bernal, T.; Kirschner, M. W.: Identification of a vertebrate sister-chromatid separation inhibitor involved in transformation and tumorigenesis. Science 285: 418-422, 1999.
[0018827]9415.Colombo, R.: Dating the origin of the V170M mutation causing non-type I cystinuria in Libyan Jews by linkage disequilibrium and physical mapping of the SLC7A9 gene. Genomics 69: 131-134, 2000.
[0018828]9416.Kim, H.; Scorillas, A.; Katsaros, D.; Yousef, G. M.; Massobrio, M.; Fracchioli, S.; Piccinno, R.; Gordini, G.; Diamandis, E. P.: Human kallikrein gene 5 (KLK5) expression is an indicator of poor prognosis in ovarian cancer. Brit. J. Cancer 84: 643-650, 2001.
[0018829]9417.Yousef, G. M.; Diamandis, E. P.: The new kallikrein-like gene, KLK-L2: molecular characterization, mapping, tissue expression, and hormonal regulation. J. Biol. Chem. 274: 37511-37516, 1999.
[0018830]9418.Bidart, J.-M.; Mian, C.; Lazar, V.; Russo, D.; Filetti, S.; Caillou, B.; Schlumberger, M.: Expression of pendrin and the Pendred syndrome (PDS) gene in human thyroid tissues. J. Clin. Endocr. Metab. 85: 2028-2033, 2000.
[0018831]9419.Coyle, B.; Reardon, W.; Herbrick, J.-A.; Tsui, L.-C.; Gausden, E.; Lee, J.; Coffey, R.; Grueters, A.; Grossman, A.; Phelps, P. D.; Luxon, L.; Kendall-Taylor, P.; Scherer, S. W.; Trembath, R. C.: Molecular analysis of the PDS gene in Pendred syndrome (sensorineural hearing loss and goitre). Hum. Molec. Genet. 7: 1105-1112, 1998.
[0018832]9420.Everett, L. A.; Belyantseva, I. A.; Noben-Trauth, K.; Cantos, R.; Chen, A.; Thakkar, S. I.; Hoogstraten-Miller, S. L.; Kachar, B.; Wu, D. K.; Green, E. D.: Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome. Hum. Molec. Genet. 10: 153-161, 2001.
[0018833]9421.Everett, L. A.; Morsli, H.; Wu, D. K.; Green, E. D.: Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear. Proc. Nat. Acad. Sci. 96: 9727-9732, 1999.
[0018834]9422.Kraiem, Z.; Heinrich, R.; Sadeh, O.; Shiloni, E.; Nassir, E.; Hazani, E.; Glaser, B.: Sulfate transport is not impaired in Pendred syndrome thyrocytes. J. Clin. Endocr. Metab. 84: 2574-2576, 1999.
[0018835]9423.Lopez-Bigas, N.; Rabionet, R.; de Cid, R.; Govea, N.; Gasparini, P.; Zelante, L.; Arbones, M. L.; Estivill, X.: Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome. Hum. Mutat. 14: 520-526, 1999.
[0018836]9424.Scott, D. A.; Wang, R.; Kreman, T. M.; Andrews, M.; McDonald, J. M.; Bishop, J. R.; Smith, R. J. H.; Karniski, L. P.; Sheffield, V. C.: Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4). Hum. Molec. Genet. 9: 1709-1715, 2000.
[0018837]9425.Markert, M. L.; Hershfield, M. S.; Schiff, R. I.; Buckley, R. H.: Adenosine deaminase and purine nucleoside phosphorylase deficiencies: evaluation of therapeutic interventions in eight patients. J. Clin. Immun. 7: 389-399, 1987.
[0018838]9426.Liquori, C. L.; Ricker, K.; Moseley, M. L.; Jacobsen, J. F.; Kress, W.; Naylor, S. L.; Day, J. W.; Ranum, L. P. W.: Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 293: 864-867, 2001.
[0018839]9427.Lusis, A. J.; Rajavashisth, T. B.; Klisak, I.; Heinzmann, C.; Mohandas, T.; Sparkes, R. S.: Mapping of the gene for CNBP, a finger protein, to human chromosome 3q13.3-q24. Genomics 8: 411-414, 1990. Note: Erratum: Genomics 9: 564 only, 1991.
[0018840]9428.Rajavashisth, T. B.; Taylor, A. K.; Andalibi, A.; Svenson, K. L.; Lusis, A. J.: Identification of a zinc finger protein that binds to the sterol regulatory element. Science 245: 640-643, 1989.
[0018841]9429.Ewen, M. E.; Xing, Y.; Lawrence, J. B.; Livingston, D. M.: Molecular cloning, chromosomal mapping, and expression of the cDNA for p107, a retinoblastoma gene product-related protein. Cell 66: 1155-1164, 1991.
[0018842]9430.Huppi, K.; Siwarski, D.; Mock, B. A.; Dosik, J.; Hamel, P. A.: Molecular cloning, chromosomal mapping, and expression of the mouse p107 gene. Mammalian Genome 7: 353-355, 1996.
[0018843]9431.Kim, K. K.; Soonpaa, M. H.; Wang, H.; Field, L. J.: Developmental expression of p107 mRNA and evidence for alternative splicing of the p107 (RBL1) gene product. Genomics 28: 520-529, 1995.
[0018844]9432.LeCouter, J. E.; Kablar, B.; Hardy, W. R.; Ying, C.; Megeney, L. A.; May, L. L.; Rudnicki, M. A.: Strain-dependent myeloid hyperplasia, growth deficiency, and accelerated cell cycle in mice lacking the Rb-related p107 gene. Molec. Cell. Biol. 18: 7455-7465, 1998.
[0018845]9433.Bonner, T. I.; Modi, W. S.; Seuanez, H. N.; O'Brien, S. J.: Chromosomal mapping of five human genes encoding muscarinic acetylcholine receptors. (Abstract) Cytogenet. Cell Genet. 58: 1850-1851, 1991.
[0018846]9434.Anand, R.; Lindstrom, J.: Chromosomal localization of seven neuronal nicotinic acetylcholine receptor subunit genes in humans. Genomics 13: 962-967, 1992.
[0018847]9435.Bessis, A.; Simon-Chazottes, D.; Devillers-Thiery, A.; Guenet, J.-L.; Changeux, J.-P.: Chromosomal localization of the mouse genes coding for alpha-2, alpha-3, alpha-4 and beta-2 subunits of neuronal nicotinic acetylcholine receptor. FEBS Lett. 264: 48-52, 1990.
[0018848]9436.Wilcox, W. R.; Tavormina, P. L.; Krakow, D.; Kitoh, H.; Lachman, R. S.; Wasmuth, J. J.; Thompson, L. M.; Rimoin, D. L.: Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia. Am. J. Med. Genet. 78: 274-281, 1998.
[0018849]9437.Wilkie, A. O. M.: Craniosynostosis: genes and mechanisms. Hum. Molec. Genet. 6: 1647-1656, 1997.
[0018850]9438.Armstrong, E.; Partanen, J.; Cannizzaro, L.; Huebner, K.; Alitalo, K.: Localization of the fibroblast growth factor receptor-4 gene to chromosome region 5q33-qter. Genes Chromosomes Cancer 4: 94-98, 1992.
[0018851]9439.Bange, J.; Prechtl, D.; Cheburkin, Y.; Specht, K.; Harbeck, N.; Schmitt, M.; Knyazeva, T.; Muller, S.; Gartner, S.; Sures, I.; Wang, H.; Imyanitov, E.; Haring, H.-U.; Knayzev, P.; Iacobelli, S.; Hofler, H.; Ullrich, A.: Cancer progression and tumor cell motility are associated with the FGFR4 Arg388 allele. Cancer Res. 62: 840-847, 2002.
[0018852]9440.Holtrich, U.; Brauninger, A.; Strebhardt, K.; Rubsamen-Waigmann, H.: Two additional protein-tyrosine kinases expressed in human lung: fourth member of the fibroblast growth factor receptor family and an intracellular protein-tyrosine kinase. Proc. Nat. Acad. Sci. 88: 10411-10415, 1991.
[0018853]9441.Kostrzewa, M.; Muller, U.: Genomic structure and complete sequence of the human FGFR4 gene. Mammalian Genome 9: 131-135, 1998.
[0018854]9442.Partanen, J.; Makela, T. P.; Eerola, E.; Korhonen, J.; Hirvonen, H.; Claesson-Welsh, L.; Alitalo, K.: FGFR-4, a novel acidic fibroblast growth factor receptor with a distinct expression pattern. EMBO J. 10: 1347-1354, 1991.
[0018855]9443.Scott, A. F.: Personal Communication. Baltimore, Md. 10/12/1999.
[0018856]9444.Vainikka, S.; Partanen, J.; Bellosta, P.; Coulier, F.; Basilico, C.; Jaye, M.; Alitalo, K.: Fibroblast growth factor receptor-4 shows novel features in genomic structure, ligand binding and signal transduction. EMBO J. 11: 4273-4280, 1992.
[0018857]9445.Warrington, J. A.; Bailey, S. K.; Armstrong, E.; Aprelikova, O.; Alitalo, K.; Dolganov, G. M.; Wilcox, A. S.; Sikela, J. M.; Wolfe, S. F.; Lovett, M.; Wasmuth, J. J.: A radiation hybrid map of 18 growth factor, growth factor receptor, hormone receptor, or neurotransmitter receptor genes on the distal region of the long arm of chromosome 5. Genomics 13: 803-808, 1992.
[0018858]9446.Celik, M.; Gokmen, N.; Erbayraktar, S.; Akhisaroglu, M.; Konakc, S.; Ulukus, C.; Genc, S.; Genc, K.; Sagiroglu, E.; Cerami, A.; Brines, M.: Erythropoietin prevents motor neuron apoptosis and neurologic disability in experimental spinal cord ischemic injury. Proc. Nat. Acad. Sci. 99: 2258-2263, 2002.
[0018859]9447.Digicaylioglu, M.; Lipton, S. A.: Erythropoietin-mediated neuroprotection involves cross-talk between Jak2 and NF-kappa-B signalling cascades. Nature 412: 641-647, 2001.
[0018860]9448.Eschbach, J. W.; Egrie, J. C.; Downing, M. R.; Browne, J. K.; Adamson, J. W.: Correction of the anemia of end-stage renal disease with recombinant human erythropoietin: results of a combined phase I and II clinical trial. New Eng. J. Med. 316: 73-78, 1987.
[0018861]9449.Goldberg, M. A.; Dunning, S. P.; Bunn, H. F.: Regulation of the erythropoietin gene: evidence that the oxygen sensor is a heme protein. Science 242: 1412-1415, 1988.
[0018862]9450.Gorio, A.; Gokmen, N.; Erbayraktar, S.; Yilmaz, O.; Madaschi, L.; Cichetti, C.; Di Giulio, A. M.; Vardar, E.; Cerami, A.; Brines, M. : Recombinant human erythropoietin counteracts secondary injury and markedly enhances neurological recovery from experimental spinal cord trauma. Proc. Nat. Acad. Sci. 99: 9450-9455, 2002.
[0018863]9451.Grimm, C.; Wenzel, A.; Groszer, M.; Mayser, H.; Seeliger, M.; Samardzija, M.; Bauer, C.; Gassmann, Z.; Reme, C. E.: HIF-1-induced erythropoietin in the hypoxic retina protects against lightinduced retinal degeneration. Nature Med. 8: 718-724, 2002.
[0018864]9452.Jacobs, K.; Shoemaker, C.; Rudersdorf, R.; Neill, S. D.; Kaufman, R. J.; Mufson, A.; Seehra, J.; Jones, S. S.; Hewick, R.; Fritsch, E. F.; Kawakita, M.; Shimizu, T.; Miyake, T.: Isolation and characterization of genomic and cDNA clones of human erythropoietin. Nature 313: 806-810, 1985.
[0018865]9453.Junk, A. K.; Mammis, A.; Savitz, S. I.; Singh, M.; Roth, S.; Malhotra, S.; Rosenbaum, P. S.; Cerami, A.; Brines, M.; Rosenbaum, D. M.: Erythropoietin administration protects retinal neurons from acute ischemia-reperfusion injury. Proc. Nat. Acad. Sci. 99: 10659-10664, 2002.
[0018866]9454.Kessler, P. D.; Podsakoff, G. M.; Chen, X.; McQuiston, S. A.; Colosi, P. C.; Matelis, L. A.; Kurtzman, G. J.; Byrne, B. J.: Gene delivery to skeletal muscle results in sustained expression and systemic delivery of a therapeutic protein. Proc. Nat. Acad. Sci. 93: 14082-14087, 1996.
[0018867]9455.Lacombe, C.; Tambourin, P.; Mattei, M. G.; Simon, D.; Guenet, J. L.: The murine erythropoietin gene is localized on chromosome 5. (Letter) Blood 72: 1440-1442, 1988.
[0018868]9456.Law, M. L.; Cai, G.-Y.; Lin, F.-K.; Wei, Q.; Huang, S.-Z.; Hartz, J. H.; Morse, H.; Lin, C.-H.; Jones, C.; Kao, F.-T.: Chromosomal assignment of the human erythropoietin gene and its DNA polymorphism. Proc. Nat. Acad. Sci. 83: 6920-6924, 1986.
[0018869]9457.Lee, R.; Kertesz, N.; Joseph, S. B.; Jegalian, A. Wu, H.: Erythropoietin (Epo) and EpoR expression and 2 waves of erythropoiesis. Blood 98: 1408-1415, 2001.
[0018870]9458.Lee-Huang, S.: Cloning and expression of human erythropoietin cDNA in Escherichia coli. Proc. Nat. Acad. Sci. 81: 2708-2712, 1984.
[0018871]9459.Lin, F.-K.; Suggs, S.; Lin, C.-H.; Browne, J. K.; Smalling, R.; Egrie, J. C.; Chen, K. K.; Fox, G. M.; Martin, F.; Stabinsky, Z.; Badrawi, S. M.; Lai, P.-H.; Goldwasser, E.: Cloning and expression of the human erythropoietin gene. Proc. Nat. Acad. Sci. 82: 7580-7584, 1985.
[0018872]9460.Macdougall, I. C.; Gray, S. J.; Elston, O.; Breen, C.; Jenkins, B.; Browne, J.; Egrie, J.: Pharmacokinetics of novel erythropoiesis stimulating protein compared with Epoetin alfa in dialysis patients. J. Am. Soc. Nephrol. 10: 2392-2395, 1999.
[0018873]9461.McDonald, J. D.; Lin, F.-K.; Goldwasser, E.: Cloning, sequencing, and evolutionary analysis of the mouse erythropoietin gene. Molec. Cell. Biol. 6: 842-848, 1986.
[0018874]9462.Naffakh, N.; Henri, A.; Villeval, J. L.; Rouyer-Fessard, P.; Moullier, P.; Blumenfeld, N.; Danos, O.; Vainchenker, W.; Heard, J. M.; Beuzard, Y.: Sustained delivery of erythropoietin in mice by genetically modified skin fibroblasts. Proc. Nat. Acad. Sci. 92: 3194-3198, 1995.
[0018875]9463.Osborne, W. R. A.; Ramesh, N.; Lau, S.; Clowes, M. M.; Dale, D. C.; Clowes, A. W.: Gene therapy for long-term expression of erythropoietin in rats. Proc. Nat. Acad. Sci. 92: 8055-8058, 1995.
[0018876]9464.Powell, J. S.; Berkner, K. L.; Lebo, R. V.; Adamson, J. W.: Human erythropoietin gene: high level expression in stably transfected mammalian cells and chromosome localization. Proc. Nat. Acad. Sci. 83: 6465-6469, 1986.
[0018877]9465.Romanowski, R. R.; Sytkowski, A. J.: The molecular structure of human erythropoietin. Hemat. Oncol. Clin. North Am. 8: 885-894, 1994.
[0018878]9466.Sakanaka, M.; Wen, T.-C.; Matsuda, S.; Masuda, S.; Morishita, E.; Nagao, M.; Sasaki, R.: In vivo evidence that erythropoietin protects neurons from ischemic damage. Proc. Nat. Acad. Sci. 95: 4635-4640, 1998.
[0018879]9467.Semenza, G. L.; Dureza, R. C.; Traystman, M. D.; Gearhart, J. D.; Antonarakis, S. E.: Different DNA sequences control liver versus kidney expression of the human erythropoietin gene in transgenic mice. (Abstract) Am. J. Hum. Genet. 45 (suppl.): A116 only, 1989.
[0018880]9468.Semenza, G. L.; Traystman, M. D.; Gearhart, J. D.; Antonarakis, S. E.: Polycythemia in transgenic mice expressing the human erythropoietin gene. Proc. Nat. Acad. Sci. 86: 2301-2305, 1989.
[0018881]9469.Sherwood, J. B.; Shouval, D.: Continuous production of erythropoietin by an established human renal carcinoma cell line: development of the cell line. Proc. Nat. Acad. Sci. 83: 165-169, 1986.
[0018882]9470.Shoemaker, C. B.; Mitsock, L. D.: Murine erythropoietin gene: cloning, expression, and human gene homology. Molec. Cell. Biol. 6: 849-858, 1986.
[0018883]9471.Siren, A.-L.; Fratelli, M.; Brines, M.; Goemans, C.; Casagrande, S.; Lewczuk, P.; Keenan, S.; Gleiter, C.; Pasquali, C.; Capobianco, A.; Mennini, T.; Heumann, R.; Cerami, A.; Ehrenreich, H.; Ghezzi, P.: Erythropoietin prevents neuronal apoptosis after cerebral ischemia and metabolic stress. Proc. Nat. Acad. Sci. 98: 4044-4049, 2001.
[0018884]9472.Clancy, D. J.; Gems, D.; Harshman, L. G.; Oldham, S.; Stocker, H.; Hafen, E.; Leevers, S. J.; Partridge, L.: Extension of life-span by loss of CHICO, a Drosophila insulin receptor substrate protein. Science 292: 104-106, 2001.
[0018885]9473.Chai, K. X.; Chen, L.-M.; Chao, J.; Chao, L.: Kallistatin: a novel human serine proteinase inhibitor: molecular cloning, tissue distribution, and expression in Escherichia coli. J. Biol. Chem. 268: 24498-24505, 1993.
[0018886]9474.Chai, K. X.; Ward, D. C.; Chao, J.; Chao, L.: Molecular cloning, sequence analysis, and chromosomal localization of the human protease inhibitor 4 (kallistatin) gene (PI4). Genomics 23: 370-378, 1994.
[0018887]9475.Zhou, G. X.; Chao, L.; Chao, J.: Kallistatin: a novel human tissue kallikrein inhibitor; purification, characterization, and reactive center sequence. J. Biol. Chem. 267: 25873-25880, 1992.
[0018888]9476.Christmanson, L.; Rorsman, F.; Stenman, G.; Westermark, P.; Betsholtz, C.: The human islet amyloid polypeptide (IAPP) gene: organization, chromosomal localization and functional identification of a promoter region. FEBS Lett. 267: 160-166, 1990.
[0018889]9477.Cockburn, D. C.; Holt, S. M.; Roberts, A. N.; Cooper, G. J. S.; Reid, K. B. M.; Boyd, Y.: Localization of the amylin locus to chromosome 12. (Abstract) Cytogenet. Cell Genet. 51: 977, 1989.
[0018890]9478.Cooper, G. J.; Willis, A. C.; Clark, A.; Turner, R. C.; Sim, R. B.; Reid, K. B.: Purification and characterization of a peptide from amyloid-rich pancreases of type 2 diabetic patients. Proc. Nat. Acad. Sci. 84: 8628-8632, 1987.
[0018891]9479.Cooper, G. J. S.; Leighton, B.; Dimitriadis, G. D.; Parry-Billings, M.; Kowalchuk, J. M.; Howland, K.; Rothbard, J. B.; Willis, A. C.; Reid, K. B. M.: Amylin found in amyloid deposits in human type 2 diabetes mellitus may be a hormone that regulates glycogen metabolism in skeletal muscle. Proc. Nat. Acad. Sci. 85: 7763-7766, 1988.
[0018892]9480.Fan, Y.-S.; Eddy, R. L.; Byers, M. G.; Haley, L. L.; Henry, W. M.; Sanke, T.; Steiner, D. F.; Shows, T. B.; Bell, G. I.: Localization of the human islet amyloid polypeptide gene (IAP) to chromosome 12p12.3. (Abstract) Cytogenet. Cell Genet. 51: 997, 1989.
[0018893]9481.Harvey, A. M.: Medical students on the march: Brown, MacCallum and Opie. Johns Hopkins Med. J. 134: 330-345, 1974.
[0018894]9482.Hoovers, J. M. N.; Redeker, E.; Speleman, F.; Hoppener, J. W. M.; Bhola, S.; Bliek, J.; van Roy, N.; Leschot, N. J.; Westerveld, A.; Mannens, M.: High-resolution chromosomal localization of the human calcitonin/CGRP/IAPP gene family members. Genomics 15: 525-529, 1993.
[0018895]9483.Hoppener, J. W. M.; Oosterwijk, C.; van Hulst, K. L.; Verbeek, J. S.; Capel, P. J. A.; de Koning, E. J. P.; Clark, A.; Jansz, H. S.; Lips, C. J. M.: Molecular physiology of the islet amyloid polypeptide (IAPP)/amylin gene in man, rat, and transgenic mice. J. Cell. Biochem. 55S: 39-53, 1994.
[0018896]9484.Jaikaran, E. T. A. S.; Clark, A.: Islet amyloid and type 2 diabetes: from molecular misfolding to islet pathophysiology. Biochim. Biophys. Acta 1537: 179-203, 2001.
[0018897]9485.Janson, J.; Soeller, W. C.; Roche, P. C.; Nelson, R. T.; Torchia, A. J.; Kreutter, D. K.; Butler, P. C.: Spontaneous diabetes mellitus in transgenic mice expressing human islet amyloid polypeptide. Proc. Nat. Acad. Sci. 93: 7283-7288, 1996.
[0018898]9486.Johnson, K. H.; O'Brien, T. D.; Betsholtz, C.; Westermark, P. : Islet amyloid, isletamyloid polypeptide, and diabetes mellitus. New Eng. J. Med. 321: 513-518, 1989.
[0018899]9487.Lorenzo, A.; Razzaboni, B.; Weir, G. C.; Yankner, B. A.: Pancreatic islet cell toxicity of amylin associated with type-2 diabetes mellitus. Nature 368: 756-760, 1994.
[0018900]9488.Mosselman, S.; Hoppener, J. W. M.; Lips, C. J. M.; Jansz, H. S. : The complete islet amyloid polypeptide precursor is encoded by two exons. FEBS Lett. 247: 154-158, 1989.
[0018901]9489.Mosselman, S.; Hoppener, J. W. M.; Zandberg, J.; van Mansfeld, A. D. M.; Geurts van Kessel, A. H. M.; Lips, C. J. M.; Jansz, H. S. : Islet amyloid polypeptide: identification and chromosomal localization of the human gene. FEBS Lett. 239: 227-232, 1988.
[0018902]9490.Nishi, M.; Sanke, T.; Seino, S.; Eddy, R. L.; Fan, Y.-S.; Byers, M. G.; Shows, T. B.; Bell, G. I.; Steiner, D. F.: Human islet amyloid polypeptide gene: complete nucleotide sequence, chromosomal localization, and evolutionary history. Molec. Endocr. 3: 1775-1781, 1989.
[0018903]9491.Opie, E. L.: On the relation of the chronic interstitial pancreatitis to the islands of Langerhans and to diabetes mellitus. J. Exp. Med. 5: 397-428, 1900.
[0018904]9492.Bergsagel, P. L.; Chesi, M.; Nardini, E.; Brents, L. A.; Kirby, S. L.; Kuehl, W. M.: Promiscuous translocations into immunoglobulin heavy chain switch regions in multiple myeloma. Proc. Nat. Acad. Sci. 93: 13931-13936, 1996.
[0018905]9493.Breitbart, A. S.; Eaton, C.; McCarthy, J. G.: Crouzon's syndrome associated with acanthosis nigricans: ramifications for the craniofacial surgeon. Ann. Plastic Surg. 22: 310-315, 1989.
[0018906]9494.Brodie, S. G.; Kitoh, H.; Lipson, M.; Sifry-Platt, M.; Wilcox, W. R.: Thanatophoric dysplasia type I with syndactyly. Am. J. Med. Genet. 80: 260-262, 1998.
[0018907]9495.Cappellen, D.; De Oliveira, C.; Ricol, D.; Gil Diez de Medina, S.; Bourdin, J.; Sastre-Garau, X.; Chopin, D.; Thiery, J. P.; Radvanyi, F.: Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas. (Letter) Nature Genet. 23: 18-20, 1999.
[0018908]9496.Chen, L.; Adar, R.; Yang, X.; Monsonego, E. O.; Li, C.; Hauschka, P. V.; Yayon, A.; Deng, C.-X.: Gly369-to-cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis. J. Clin. Invest. 104: 1517-1525, 1999.
[0018909]9497.Chen, L.; Li, C.; Qiao, W.; Xu, X.; Deng, C.: A ser365-cys mutation of fibroblast growth factor receptor 3 in mouse downregulates Ihh/PTHrP signals and causes severe achondroplasia. Hum. Molec. Genet. 10: 457-465, 2001.
[0018910]9498.Chesi, M.; Nardini, E.; Brents, L. A.; Schrock, E.; Ried, T.; Kuehl, W. M.; Bergsagel, P. L.: Frequent translocation t(4;14)(p16.3;q32.3) in multiple myeloma is associated with increased expression and activating mutations of fibroblast growth factor receptor 3. Nature Genet. 16: 260-264, 1997.
[0018911]9499.Cohen, M. M., Jr.: Let's call it 'Crouzonodermoskeletal syndrome' so we won't be prisoners of our own conventional terminology. (Letter) Am. J. Med. Genet. 84: 74 only, 1999.
[0018912]9500.Colvin, J. S.; Bohne, B. A.; Harding, G. W.; McEwen, D. G.; Ornitz, D. M.: Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3. Nature Genet. 12: 390-397, 1996.
[0018913]9501.Deng, C.; Wynshaw-Boris, A.; Zhou, F.; Kuo, A.; Leder, P.: Fibroblast growth factor receptor 3 is a negative regulator of bone growth. Cell 84: 911-921, 1996.
[0018914]9502.Deutz-Terlouw, P. P.; Losekoot, M.; Aalfs, C. M.; Hennekam, R. C. M.; Bakker, E.: Asn540thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia. Hum. Mutat. Suppl. 1: S62-S65, 1998.
[0018915]9503.El Ghouzzi, V.; Lajeunie, E.; Le Merrer, M.; Cormier-Daire, V.; Renier, D.; Munnich, A.; Bonaventure, J.: Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome. Europ. J. Hum. Genet. 7: 27-33, 1999.
[0018916]9504.Fofanova, O. V.; Takamura, N.; Kinoshita, E.; Meerson, E. M.; Iljina, V. K.; Nechvolodova, O. L.; Evgrafov, O. V.; Peterkova, V. A.; Yamashita, S.: A missense mutation of C1659 in the fibroblast growth factor receptor 3 gene in Russian patients with hypochondroplasia. Endocr. J. 45: 791-795, 1998.
[0018917]9505.Francomano, C. A.: Personal Communication. Bethesda, Md. 1/19/1999.
[0018918]9506.Francomano, C. A.: Personal Communication. Baltimore, Md. 12/1/1994.
[0018919]9507.Golla, A.; Lichtner, P.; von Gernet, S.; Winterpacht, A.; Fairley, J.; Murken, J.; Schuffenhauer, S.: Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family. J. Med. Genet. 34: 683-684, 1997.
[0018920]9508.Graham, J. M., Jr.; Braddock, S. R.; Mortier, G. R.; Lachman, R.; Van Dop, C.; Jabs, E. W.: Syndrome of coronal craniosynostosis with brachydactyly and carpal tarsal coalition due to Pro250Arg mutation in FGFR3 gene. Am. J. Med. Genet. 77: 322-329, 1998.
[0018921]9509.Grigelioniene, G.; Hagenas, L.; Eklof, O.; Neumeyer, L.; Haereid, P. E.; Anvret, M.: A novel missense mutation ile538-to-val in the fibroblast growth factor receptor 3 in hypochondroplasia. (Abstract) Hum. Mutat. 11: 333 only, 1998.
[0018922]9510.Gripp, K. W.; McDonald-McGinn, D. M.; Gaudenz, K.; Whitaker, L. A.; Bartlett, S. P.; Glat, P. M.; Cassileth, L. B.; Mayro, R.; Zackai, E. H.; Muenke, M.: Identification of a genetic cause for isolated unilateral coronal synostosis: a unique mutation in the fibroblast growth factor receptor 3. J. Pediat. 132: 714-716, 1998.
[0018923]9511.Francomano, C. A.; Bellus, G. A.; Szabo, J.; McIntosh, I.; Dorst, J.; Lee, R.; Hurko, O.; Fraley, A. E.; Bamshad, M. J.: A new skeletal dysplasia with severe tibial bowing, profound developmental delay and acanthosis nigricans is caused by a Lys 650 Met mutation in fibroblast growth factor receptor 3 (FGFR3). (Abstract) Am. J. Hum. Genet. 59 (suppl.): A25 only, 1996.
[0018924]9512.Henderson, J. E.; Naski, M. C.; Aarts, M. M.; Wang, D.; Cheng, L.; Goltzman, D.; Ornitz, D. M.: Expression of FGFR3 with the G380R achondroplasia mutation inhibits proliferation and maturation of CFK2 chondrocytic cells. J. Bone Miner. Res. 15: 155-165, 2000.
[0018925]9513.Hollway, G. E.; Suthers, G. K.; Battese, K. M.; Turner, A. M.; David, D. J.; Mulley, J. C.: Deafness due to pro250-to-arg mutation of FGFR3. (Letter) Lancet 351: 877-878, 1998.
[0018926]9514.Ikegawa, S.; Fukushima, Y.; Isomura, M.; Takada, F.; Nakamura, Y.: Mutations of the fibroblast growth factor receptor-3 gene in one familial and six sporadic cases of achondroplasia in Japanese patients. Hum. Genet. 96: 309-311, 1995.
[0018927]9515.Intini, D.; Baldini, L.; Fabris, S.; Lombardi, L.; Ciceri, G.; Maiolo, A. T.; Neri, A.: Analysis of FGFR3 gene mutations in multiple myeloma patients with t(4;14). Brit. J. Haemat. 114: 362-364, 2001.
[0018928]9516.Iwata, T.; Chen, L.; Li, C.; Ovchinnikov, D. A.; Behringer, R. R.; Francomano, C. A.; Deng, C.-X.: A neonatal lethal mutation in FGFR3 uncouples proliferation and differentiation of growth plate chondrocytes in embryos. Hum. Molec. Genet. 9: 1603-1613, 2000.
[0018929]9517.Iwata, T.; Li, C.-L.; Deng, C.-X.; Francomano, C. A.: Highly activated Fgfr3 with the K644M mutation causes prolonged survival in severe dwarf mice. Hum. Molec. Genet. 10: 1255-1264, 2001.
[0018930]9518.Jabs, E. W.; Li, X.; Scott, A. F.; Meyers, G.; Chen, W.; Eccles, M.; Mao, J. I.; Charnas, L. R.; Jackson, C. E.; Jaye, M.: Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. Nature Genet. 8: 275-279, 1994.
[0018931]9519.Jang, J.-H.: Identification and characterization of soluble isoform of fibroblast growth factor receptor 3 in human SaOS-2 osteosarcoma cells. Biochem. Biophys. Res. Commun. 292: 378-382, 2002.
[0018932]9520.Jang, J.-H.; Shin, K.-H.; Park, J.-G.: Mutations in fibroblast growth factor receptor 2 and fibroblast growth factor receptor 3 genes associated with human gastric and colorectal cancers. Cancer Res. 61: 3541-3543, 2001.
[0018933]9521.Clausen, J. O.; Hansen, T.; Bjorbaek, C.; Echwald, S. M.; Urhammer, S. A.; Rasmussen, S.; Andersen, C. B.; Hansen, L.; Almind, K.; Winther, K.; Haraldsdottir, J.; Borch-Johnsen, K.; Pedersen, O.: Insulin resistance: interactions between obesity and a common variant of insulin receptor substrate-1. Lancet 346: 397-402, 1995.
[0018934]9522.Esposito, D. L.; Mammarella, S.; Ranieri, A.; Loggia, F. D.; Capani, F.; Consoli, A.; Mariani-Costantini, R.; Caramia, F. G.; Cama, A.; Battista, P.: Deletion of gly723 in the insulin receptor substrate-1 of a patient with noninsulin-dependent diabetes mellitus. Hum. Mutat. 7: 364-366, 1996.
[0018935]9523.Hribal, M. L.; Federici, M.; Porzio, O.; Lauro, D.; Borboni, P.; Accili, D.; Lauro, R.; Sesti, G.: The gly-to-arg(972) amino acid polymorphism in insulin receptor substrate-1 affects glucose metabolism in skeletal muscle cells. J. Clin. Endocr. Metab. 85: 2004-2013, 2000.
[0018936]9524.Kido, Y.; Burks, D. J.; Withers, D.; Bruning, J. C.; Kahn, C. R.; White, M. F.; Accili, D.: Tissue-specific insulin resistance in mice with mutations in the insulin receptor, IRS-1, and IRS-2. J. Clin. Invest. 105: 199-205, 2000.
[0018937]9525.Kulkarni, R. N.; Winnay, J. N.; Daniels, M.; Bruning, J. C.; Flier, S. N.; Hanahan, D.; Kahn, C. R.: Altered function of insulin receptor substrate-1-deficient mouse islets and cultured beta-cell lines. J. Clin. Invest. 104: R69-R75, 1999.
[0018938]9526.Laakso, M.; Malkki, M.; Kekalainen, P.; Kuusisto, J.; Deeb, S. S.: Insulin receptor substrate-1 variants in non-insulin-dependent diabetes. J. Clin. Invest. 94: 1141-1146, 1994.
[0018939]9527.Myers, M. G., Jr.; Sun, X. J.; White, M. F.: The IRS-1 signaling system. Trends Biochem. Sci. 19: 289-293, 1994.
[0018940]9528.Nishiyama, M.; Inazawa, J.; Ariyama, T.; Nakamura, Y.; Matsufuji, S.; Furusaka, A.; Tanaka, T.; Hayashi, S.; Wands, J. R.: The human insulin receptor substrate-1 gene (IRS1) is localized on 2q36. Genomics 20: 139-141, 1994.
[0018941]9529.Nishiyama, M.; Wands, J. R.: Cloning and increased expression of an insulin receptor substrate-1-like gene in human hepatocellular carcinoma. Biochem. Biophys. Res. Commun. 183: 280-285, 1992.
[0018942]9530.Ogata, N.; Chikazu, D.; Kubota, N.; Terauchi, Y.; Tobe, K.; Azuma, Y.; Ohta, T.; Kadowaki, T.; Nakamura, K.; Kawaguchi, H.: Insulin receptor substrate-1 in osteoblast is indispensable for maintaining bone turnover. J. Clin. Invest. 105: 935-943, 2000.
[0018943]9531.Ogihara, T.; Isobe, T.; Ichimura, T.; Taoka, M.; Funaki, M.; Sakoda, H.; Onishi, Y.; Inukai, K.; Anai, M.; Fukushima, Y.; Kikuchi, M.; Yazaki, Y.; Oka, Y.; Asano, T.: 14-3-3 protein binds to insulin receptor substrate-1, one of the binding sites of which is in the phosphotyrosine binding domain. J. Biol. Chem. 272: 25267-25274, 1997.
[0018944]9532.Porzio, O.; Federici, M.; Hribal, M. L.; Lauro, D.; Accili, D.; Lauro, R.; Borboni, P.; Sesti, G.: The gly972-to-arg amino acid polymorphism in IRS-1 impairs insulin secretion in pancreatic beta cells. J. Clin. Invest. 104: 357-364, 1999.
[0018945]9533.Stoffel, M.; Espinosa, R., III; Keller, S. R.; Lienhard, G. E.; Le Beau, M. M.; Bell, G. I.: Human insulin receptor substrate-1 gene (IRS1): chromosomal localization to 2q35-q36.1 and identification of a simple tandem repeat DNA polymorphism. Diabetologia 36: 335-337, 1993.
[0018946]9534.Sun, X. J.; Rothenberg, P.; Kahn, C. R.; Backer, J. M.; Araki, E.; Wilden, P. A.; Cahill, D. A.; Goldstein, B. J.; White, M. F.: Structure of the insulin receptor substrate IRS-1 defines a unique signal transduction protein. Nature 352: 73-77, 1991.
[0018947]9535.Diaz, M. O.; Bohlander, S.: Nomenclature of the human interferon genes. J. Interferon Res. 13: 443-444, 1993.
[0018948]9536.Henco, K.; Brosius, J.; Fujisawa, A.; Fujisawa, J.-I.; Haynes, J. R.; Hochstadt, J.; Kovacic, T.; Pasek, M.; Schambock, A.; Schmid, J.; Todokoro, K.; Walchli, M.; Nagata, S.; Weissmann, C.: Structural relationship of human interferon alpha genes and pseudogenes. J. Molec. Biol. 185: 227-260, 1985.
[0018949]9537.Olopade, O. I.; Bohlander, S. K.; Pomykala, H.; Maltepe, E.; Van Melle, E.; Le Beau, M. M.; Diaz, M. O.: Mapping of the shortest region of overlap of deletions of the short arm of chromosome 9 associated with human neoplasia. Genomics 14: 437-443, 1992.
[0018950]9538.Georges-Labouesse, E.; Messaddeq, N.; Yehia, G.; Cadalbert, L.; Dierich, A.; Le Meur, M.: Absence of integrin alpha-6 leads to epidermolysis bullosa and neonatal death in mice. Nature Genet. 13: 370-373, 1996.
[0018951]9539.Hogervorst, F.; Kuikman, I.; Geurts van Kessel, A.; Sonnenberg, A.: Molecular cloning of the human alpha-6 integrin subunit: alternative splicing of alpha-6 mRNA and chromosomal localization of the alpha-6 and beta-4 genes. Europ. J. Biochem. 199: 425-433, 1991.
[0018952]9540.Ruzzi, L.; Gagnoux-Palacios, L.; Pinola, M.; Belli, S.; Meneguzzi, G.; D'Alessio, M.; Zambruno, G.: A homozygous mutation in the integrin alpha-6 gene in junctional epidermolysis bullosa with pyloric atresia. J. Clin. Invest. 99: 2826-2831, 1997.
[0018953]9541.Ruzzi, L.; Gagnoux-Palacios, L.; Pinola, M.; Belli, S.; Meneguzzi, G.; Zambruno, G.; D'Alessio, M.: A homozygous mutation in the gene encoding integrin alpha6 in junctional epidermolysis bullosa with pyloric atresia. (Abstract) Medizinische Genetik 9: 13-14, 1997.
[0018954]9542.Tamura, R. N.; Rozzo, C.; Starr, L.; Chambers, J.; Reichardt, L. F.; Cooper, H. M.; Quaranta, V.: Epithelial integrin alpha-6/beta-4: complete primary structure of alpha-6 and variant forms of beta-4. J. Cell Biol. 111: 1593-1604, 1990.
[0018955]9543.Chavanas, S.; Gache, Y.; Vailly, J.; Kanitakis, J.; Pulkkinen, L.; Uitto, J.; Ortonne, J.-P.; Meneguzzi, G.: Splicing modulation of integrin beta-4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing. Hum. Molec. Genet. 8: 2097-2105, 1999.
[0018956]9544.Inoue, M.; Tamai, K.; Shimizu, H.; Owaribe, K.; Nakama, T.; Hashimoto, T.; McGrath, J. A.: A homozygous missense mutation in the cytoplasmic tail of beta-4 integrin, G931D, that disrupts hemidesmosome assembly and underlies non-Herlitz junctional epidermolysis bullosa without pyloric atresia? J. Invest. Derm. 114: 1061-1064, 2000.
[0018957]9545.Mellerio, J. E.; Pulkkinen, L.; McMillan, J. R.; Lake, B. D.; Horn, H. M.; Tidman, M. J.; Harper, J. I.; McGrath, J. A.; Uitto, J.; Eady, R. A. J.: Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta-4 gene (ITGB4) in two unrelated patients with mild disease. Brit. J. Derm. 139: 862-871, 1998.
[0018958]9546.Carayannopoulos, M. O.; Chi, M. M.-Y.; Cui, Y.; Pingsterhaus, J. M.; McKnight, R. A.; Mueckler, M.; Devaskar, S. U.; Moley, K. H.: GLUT8 is a glucose transporter responsible for insulinstimulated glucose uptake in the blastocyst. Proc. Nat. Acad. Sci. 97: 7313-7318, 2000.
[0018959]9547.Doege, H.; Schurmann, A.; Bahrenberg, G.; Brauers, A.; Joost, H. G.: GLUT8, a novel member of the sugar transport facilitator family with glucose transport activity. J. Biol. Chem. 275: 16275-16280, 2000.
[0018960]9548.Ibberson, M.; Uldry, M.; Thorens, B.: GLUTX1, a novel mammalian glucose transporter expressed in the central nervous system and insulin-sensitive tissues. J. Biol. Chem. 275: 4607-4612, 2000.
[0018961]9549.Kool, M.; de Haas, M.; Scheffer, G. L.; Scheper, R. J.; van Eijk, M. J.; Juijn, J. A.; Baas, F.; Borst, P.: Analysis of expression of cMOAT (MRP2), MRP3, MRP4, and MRP5, homologues of the multidrug resistance-associated protein gene (MRP1), in human cancer cell lines. Cancer Res. 57: 3537-3547, 1997.
[0018962]9550.Mahlknecht, U.; Schnittger, S.; Ottmann, O. G.; Schoch, C.; Mosebach, M.; Hiddemann, W.; Hoelzer, D.: Chromosomal organization and localization of the human histone deacetylase 5 gene (HDAC5). Biochim. Biophys. Acta 1493: 342-348, 2000.
[0018963]9551.McKinsey, T. A.; Zhang, C.-L.; Lu, J.; Olson, E. N.: Signal-dependent nuclear export of a histone deacetylase regulates muscle differentiation. Nature 408: 106-111, 2000.
[0018964]9552.Chesney, J.; Mitchell, R.; Benigni, F.; Bacher, M.; Spiegel, L.; Al-Abed, Y.; Han, J. H.; Metz, C.; Bucala, R.: An inducible gene product for 6-phosphofructo-2-kinase with an AU-rich instability element: role in tumor cell glycolysis and the Warburg effect. Proc. Nat. Acad. Sci. 96: 3047-3052, 1999.
[0018965]9553.Manzano, A.; Rosa, J. L.; Ventura, F.; Perez, J. X.; Nadal, M.; Estivill, X.; Ambrosio, S.; Gil, J.; Bartrons, R.: Molecular cloning, expression, and chromosomal localization of a ubiquitously expressed human 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase gene (PFKFB3). Cytogenet. Cell Genet. 83: 214-217, 1998.
[0018966]9554.Nicholl, J.; Hamilton, J. A.; Sutherland, G. R.; Sutherland, R. L.; Watts, C. K. W.: The third human isoform of 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase (PFKFB3) map position 10p14-p15. Chromosome Res. 5: 150 only, 1997.
[0018967]9555.Sakai, A.; Kato, M.; Fukasawa, M.; Ishiguro, M.; Furuya, E.; Sakakibara, R.: Cloning of cDNA encoding for a novel isozyme of fructose 6-phosphate,2-kinase/fructose 2,6-bisphosphatase from human placenta. J. Biochem. 119: 506-511, 1996.
[0018968]9556.Sakakibara, R.; Kato, M.; Okamura, N.; Nakagawa, T.; Komada, Y.; Tominaga, N.; Shimojo, M.; Fukasawa, M.: Characterization of a human placental fructose-6-phosphate,2-kinase/fructose-2,6-bisphosphatase. J. Biochem. 122: 122-128, 1997.
[0018969]9557.Manzano, A.; Perez, J. X.; Nadal, M.; Estivill, X.; Lange, A.; Bartrons, R.: Cloning, expression and chromosomal localization of a human testis 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase gene. Gene 229: 83-89, 1999.
[0018970]9558.Larsen, M.; Ressler, S. J.; Gerdes, M. J.; Lu, B.; Byron, M.; Lawrence, J. B.; Rowley, D. R.: The WFDC1 gene encoding ps20 localizes to 16q24, a region of LOH in multiple cancers. Mammalian Genome 11: 767-773, 2000.
[0018971]9559.Larsen, M.; Ressler, S. J.; Lu, B.; Gerdes, M. J.; McBride, L.; Dang, T. D.; Rowley, D. R.: Molecular cloning and expression of ps20 growth inhibitor: a novel WAP-type 'four-disulfide core' domain protein expressed in smooth muscle. J. Biol. Chem. 273: 4574-4584, 1998.
[0018972]9560.Rowley, D. R.: Characterization of a fetal urogenital sinus mesenchymal cell line U4F: secretion of a negative growth factor regulatory activity. In Vitro Cell. Dev. Biol. 28A: 29-38, 1992.
[0018973]9561.Rowley, D. R.; Dang, T. D.; Larsen, M.; Gerdes, M. J.; McBride, L.; Lu, B.: Purification of a novel protein (ps20) from urogenital sinus mesenchymal cells with growth inhibitory properties in vitro. J. Biol. Chem. 270: 22058-22065, 1995.
[0018974]9562.Hildebrand, J. D.; Taylor, J. M.; Parsons, T. J.: An SH3 domain-containing GTPaseactivating protein for Rho and Cdc42 associates with focal adhesion kinase. Molec. Cell. Biol. 16: 3169-3178, 1996.
[0018975]9563.Smith, D. E.; Renshaw, B. R.; Ketchem, R. R.; Kubin, M.; Garka, K. E.; Sims, J. E.: Four new members expand the interleukin-1 superfamily. J. Biol. Chem. 275: 1169-1175, 2000.
[0018976]9564.Kumar, S.; McDonnell, P. C.; Lehr, R.; Tierney, L.; Tzimas, M. N.; Griswold, D. E.; Capper, E. A.; Tal-Singer, R.; Wells, G. I.; Doyle, M. L.; Young, P. R.: Identification and initial characterization of four novel members of the interleukin-1 family. J. Biol. Chem. 275: 10308-10314, 2000.
[0018977]9565.Masmoudi, S.; Antonarakis, S. E.; Schwede, T.; Ghorbel, A. M.; Gratri, M.; Pappasavas, M.-P.; Drira, M.; Elgaied-Boulila, A.; Wattenhofer, M.; Rossier, C.; Scott, H. S.; Ayadi, H.; Guipponi, M.: Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with nonsyndromic autosomal recessive deafness. Hum. Mutat. 18: 101-108, 2001.
[0018978]9566.Borkhardt, A.; Bojesen, S.; Haas, O. A.; Fuchs, U.; Bartelheimer, D.; Loncarevic, I. F.; Bohle, R. M.; Harbott, J.; Repp, R.; Jaeger, U.; Viehmann, S.; Henn, T.; Korth, P.; Scharr, D.; Lampert, F.: The human GRAF gene is fused to MLL in a unique t(5;11)(q31;q23) and both alleles are disrupted in three cases of myelodysplastic syndrome/acute myeloid leukemia with a deletion 5q. Proc. Nat. Acad. Sci. 97: 9168-9173, 2000.
[0018979]9567.Krystal, G. W.; Armstrong, B. C.; Battey, J. F.: N-myc mRNA forms an RNA-RNA duplex with endogenous antisense transcripts. Molec. Cell. Biol. 10: 4180-4191, 1990.
[0018980]9568.Torrents, D.; Estevez, R.; Pineda, M.; Fernandez, E.; Lloberas, J.; Shi, Y.-B.; Zorzano, A.; Palacin, M.: Identification and characterization of a membrane protein (y(+)L amino acid transporter-1) that associates with 4F2hc to encode the amino acid transport activity y(+)L: a candidate gene for lysinuric protein intolerance. J. Biol. Chem. 273: 32437-32445, 1998.
[0018981]9569.Yousef, G. M.; Chang, A.; Diamandis, E. P.: Identification and characterization of KLKL4, a new kallikrein-like gene that appears to be down-regulated in breast cancer tissues. J. Biol. Chem. 275: 11891-11898, 2000.
[0018982]9570.Haft, C. R.; de la Luz Sierra, M.; Bafford, R.; Lesniak, M. A.; Barr, V. A.; Taylor, S. I.: Human orthologs of yeast vacuolar protein sorting proteins Vps26, 29, and 35: assembly into multimeric complexes. Molec. Biol. Cell 11: 4105-4116, 2000.
[0018983]9571.Busfield, S. J.; Comrack, C. A.; Yu, G.; Chickering, T. W.; Smutko, J. S.; Zhou, H.; Leiby, K. R.; Holmgren, L. M.; Gearing, D. P.; Pan, Y.: Identification and gene organization of three novel members of the IL-1 family on human chromosome 2. Genomics 66: 213-216, 2000.
[0018984]9572.Mulero, J. J.; Pace, A. M.; Nelken, S. T.; Loeb, D. B.; Correa, T. R.; Drmanac, R.; Ford, J. E.: IL1HY1: a novel interleukin-1 receptor antagonist gene. Biochem. Biophys. Res. Commun. 263: 702-706, 1999.
[0018985]9573.Ben-Yosef, T.; Wattenhofer, M.; Riazuddin, S.; Ahmed, Z. M.; Scott, H. S.; Kudoh, J.; Shibuya, K.; Antonarakis, S. E.; Bonne-Tamir, B.; Radhakrishna, U.; Naz, S.; Ahmed, Z.; Riazuddin, S.; Pandya, A.; Nance, W. E.; Wilcox, E. R.; Friedman, T. B.; Morell, R. J.: Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness. (Letter) J. Med. Genet. 38: 396-400, 2001.
[0018986]9574.Pratt, W. S.; Crawley, S.; Hicks, J.; Ho, J.; Nash, M.; Kim, Y. S.; Gum, J. R.; Swallow, D. M.: Multiple transcripts of MUC3: evidence for two genes, MUC3A and MUC3B. Biochem. Biophys. Res. Commun. 275: 916-923, 2000.
[0018987]9575.Ishida, N.; Ito, M.; Yoshioka, S.; Sun-Wada, G.-H.; Kawakita, M. : Functional expression of human Golgi CMP-sialic acid transporter in the Golgi complex of a transporter-deficient Chinese hamster ovary cell mutant. J. Biochem. 124: 171-178, 1998.
[0018988]9576.Angata, T.; Varki, A.: Cloning, characterization, and phylogenetic analysis of Siglec-9, a new member of the CD33-related group of Siglecs: evidence for co-evolution with sialic acid synthesis pathways. J. Biol. Chem. 275: 22127-22135, 2000.
[0018989]9577.Foussias, G.; Yousef, G. M.; Diamandis, E. P.: Identification and molecular characterization of a novel member of the Siglec family (SIGLEC9). Genomics 67: 171-178, 2000.
[0018990]9578.Zhang, J. Q.; Nicoll, G.; Jones, C.; Crocker, P. R.: Siglec-9, a novel sialic acid binding member of the immunoglobulin superfamily expressed broadly on human blood leukocytes. J. Biol. Chem. 275: 22121-22126, 2000.
[0018991]9579.Jinks-Robertson, S.: The genome's best friend. Nature Genet. 31: 331-332, 2002.
[0018992]9580.Wattenhofer, M.; Shibuya, K.; Kudoh, J.; Lyle, R.; Michaud, J.; Rossier, C.; Kawasaki, K.; Asakawa, S.; Minoshima, S.; Berry, A.; Bonne-Tamir, B.; Shimizu, N.; Antonarakis, S. E.; Scott, H. S.: Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains. Hum. Genet. 108: 140-147, 2001.
[0018993]9581.Kasof, G. M.; Gomes, B. C.: Livin, a novel inhibitor of apoptosis protein family member. J. Biol. Chem. 276: 3238-3246, 2001.
[0018994]9582.Lin, J.-H.; Deng, G.; Huang, Q.; Morser, J.: KIAP, a novel member of the inhibitor of apoptosis protein family. Biochem. Biophys. Res. Commun. 279: 820-831, 2000.
[0018995]9583.Vucic, D.; Stennicke, H. R.; Pisabarro, M. T.; Salvesen, G. S.; Dixit, V. M.: ML-IAP, a novel inhibitor of apoptosis that is preferentially expressed in human melanomas. Curr. Biol. 10: 1359-1366, 2000.
[0018996]9584.Balemans, W.; Ebeling, M.; Patel, N.; Van Hul, E.; Olson, P.; Dioszegi, M.; Lacza, C.; Wuyts, W.; Van Den Ende, J.; Willems, P.; Paes-Alves, A. F.; Hill, S.; and 9 others: Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST). Hum. Molec. Genet. 10: 537-543, 2001.
[0018997]9585.Kobayashi, S.; Akiyama, T.; Nata, K.; Abe, M.; Tajima, M.; Shervani, N. J.; Unno, M.; Matsuno, S.; Sasaki, H.; Takasawa, S.; Okamoto, H. : Identification of a receptor for Reg (regenerating gene) protein, a pancreatic beta-cell regeneration factor. J. Biol. Chem. 275: 10723-10726, 2000.
[0018998]9586.Van Hul, W.; Wuyts, W.; Hendrickx, J.; Speleman, F.; Wauters, J.; De Boulle, K.; Van Roy, N.; Bossuyt, P.; Willems, P. J.: Identification of a third EXT-like gene (EXTL3) belonging to the EXT gene family. Genomics 47: 230-237, 1998.
[0018999]9587.Brdicka, T.; Pavlistova, D.; Leo, A.; Bruyns, E.; Korinek, V.; Angelisova, P.; Scherer, J.; Shevchenko, A.; Shevchenko, A.; Hilgert, I.; Cerny, J.; Drbal, K.; Kuramitsu, Y.; Kornacker, B.; Horejsi, V.; Schraven, B.: Phosphoprotein associated with glycosphingolipid-enriched microdomains (PAG), a novel ubiquitously expressed transmembrane adaptor protein, binds the protein tyrosine kinase Csk and is involved in regulation of T cell activation. J. Exp. Med. 191: 1591-1604, 2000.
[0019000]9588.Dowler, S.; Currie, R. A.; Downes, C. P.; Alessi, D. R.: DAPP1: a dual adaptor for phosphotyrosine and 3-phosphoinositides. Biochem. J. 342: 7-12, 1999.
[0019001]9589.Marshall, A. J.; Niiro, H.; Lerner, C. G.; Yun, T. J.; Thomas, S.; Disteche, C. M.; Clark, E. A.: A novel B lymphocyte-associated adaptor protein, Bam32, regulates antigen receptor signaling downstream of phosphatidylinositol 3-kinase. J. Exp. Med. 191: 1319-1331, 2000.
[0019002]9590.Cantor, S. B.; Bell, D. W.; Ganesan, S.; Kass, E. M.; Drapkin, R.; Grossman, S.; Wahrer, D. C. R.; Sgroi, D. C.; Lane, W. S.; Haber, D. A.; Livingston, D. M.: BACH1, a novel helicaselike protein, interacts directly with BRCA1 and contributes to its DNA repair function. Cell 105: 149-160, 2001.
[0019003]9591.Cheung, I.; Schertzer, M.; Rose, A.; Lansdorp, P. M.: Disruption of dog-1 in Caenorhabditis elegans triggers deletions upstream of guanine-rich DNA. Nature Genet. 31: 405-409, 2002.
[0019004]9592.Kinzler, K. W.; Vogelstein, B. :Nature 386: 761-763, 1997.
[0019005]9593.Schmitt, C.; von Kobbe, C.; Bachi, A.; Pante, N.; Rodrigues, J. P.; Boscheron, C.; Rigaut, G.; Wilm, M.; Seraphin, B.; Carmo-Fonseca, M.; Izaurralde, E.: Dbp5, a DEAD-box protein required for mRNA export, is recruited to the cytoplasmic fibrils of nuclear pore complex via a conserved interaction with CAN/Nup159p. EMBO J. 18: 4332-4347, 1999.
[0019006]9594.Pati, D.; Meistrich, M. L.; Plon, S. E.: Human Cdc34 and Rad6B ubiquitin-conjugating enzymes target repressors of cyclic AMP-induced transcription for proteolysis. Molec. Cell. Biol. 19: 5001-5013, 1999.
[0019007]9595.Courjal, F.; Louason, G.; Speiser, P.; Katsaros, D.; Zeillinger, R.; Theillet, C.: Cyclin gene amplification and overexpression in breast and ovarian cancers: evidence for the selection of cyclin D1 in breast and cyclin E in ovarian tumors. Int. J. Cancer 69: 247-253, 1996.
[0019008]9596.Strohmaier, H.; Spruck, C. H.; Kaiser, P.; Won, K.-A.; Sangfelt, O.; Reed, S. I.: Human F-box protein hCdc4 targets cyclin E for proteolysis and is mutated in a breast cancer cell line. Nature 413: 316-322, 2001.
[0019009]9597.Matsuda, S.; Iriyama, C.; Yokozaki, S.; Ichigotani, Y.; Shirafuji, N.; Yamaki, K.; Hayakawa, T.; Hamaguchi, M.: Cloning and sequencing of a novel human gene that encodes a putative target protein of Nesh-SH3. J. Hum. Genet. 46: 483-486, 2001.
[0019010]9598.Jager, D.; Stockert, E.; Jager, E.; Gure, A. O.; Scanlan, M. J.; Knuth, A.; Old, L. J.; Chen, Y.-T.: Serological cloning of a melanocyte rab guanosine 5-prime-triphosphate-binding protein and a chromosome condensation protein from a melanoma complementary DNA library. Cancer Res. 60: 3584-3591, 2000.
[0019011]9599.Loftus, S. K.; Larson, D. M.; Baxter, L. L.; Antonellis, A.; Chen, Y.; Wu, X.; Jiang, Y.; Bittner, M.; Hammer, J. A., III; Pavan, W. J.: Mutation of melanosome protein RAB38 in chocolate mice. Proc. Nat. Acad. Sci. 99: 4471-4476, 2002.
[0019012]9600.Matsuyoshi, N.; Tanaka, T.; Toda, K.; Imamura, S.: Identification of novel cadherins expressed in human melanoma cells. J. Invest. Derm. 108: 908-913, 1997.
[0019013]9601.Gumienny, T. L.; Brugnera, E.; Tosello-Trampont, A.-C.; Kinchen, J. M.; Haney, L. B.; Nishiwaki, K.; Walk, S. F.; Nemergut, M. E.; Macara, I. G.; Francis, R.; Schedl, T.; Qin, Y.; Van Aelst, L.; Hengartner, M. O.; Ravichandran, K. S.: CED-12/ELMO, a novel member of the CrkII/Dock180/Rac pathway, is required for phagocytosis and cell migration. Cell 107: 27-41, 2001.
[0019014]9602.Tanner, S. M.; Austin, J. L.; Leone, G.; Rush, L. J.; Plass, C.; Heinonen, K.; Mrozek, K.; Sill, H.; Knuutila, S.; Kolitz, J. E.; Archer, K. J.; Caligiuri, M. A.; Bloomfield, C. D.; de la Chapelle, A.: BAALC, the human member of a novel mammalian neuroectoderm gene lineage, is implicated in hematopoiesis and acute leukemia. Proc. Nat. Acad. Sci. 98: 13901-13906, 2001.
[0019015]9603.Wang, H.; Fei, Y.-J.; Kekuda, R.; Yang-Feng, T. L.; Devoe, L. D.; Leibach, F. H.; Prasad, P. D.; Ganapathy, V.: Structure, function, and genomic organization of human Na(+)-dependent high-affinity dicarboxylate transporter. Am. J. Physiol. Cell Physiol. 278: C1019-C1030, 2000.
[0019016]9604.Yun, C. H. C.; Oh, S.; Zizak, M.; Steplock, D.; Tsao, S.; Tse, C.-M.; Weinman, E. J.; Donowitz, M.: cAMP-mediated inhibition of the epithelial brush border Na(+)/H(+) exchanger, NHE3, requires an associated regulatory protein. Proc. Nat. Acad. Sci. 94: 3010-3015, 1997.
[0019017]9605.Li, Y.; Chin, L.-S.; Weigel, C.; Li, L.: Spring, a novel RING finger protein that regulates synaptic vesicle exocytosis. J. Biol. Chem. 276: 40824-40833, 2001.
[0019018]9606.Reymond, A.; Meroni, G.; Fantozzi, A.; Merla, G.; Cairo, S.; Luzi, L.; Riganelli, D.; Zanaria, E.; Messali, S.; Cainarca, S.; Guffanti, A.; Minucci, S.; Pelicci, P. G.; Ballabio, A.: The tripartite motif family identifies cell compartments. EMBO J. 20: 2140-2151, 2001.
[0019019]9607.Boles, K. S.; Mathew, P. A.: Molecular cloning of CS1, a novel human natural killer cell receptor belonging to the CD2 subset of the immunoglobulin superfamily. Immunogenetics 52: 302-307, 2001.
[0019020]9608.Bouchon, A.; Cella, M.; Grierson, H. L.; Cohen, J. I.; Colonna, M.: Cutting edge: activation of NK cell-mediated cytotoxicity by a SAP-independent receptor of the CD2 family. J. Immun. 167: 5517-5521, 2001.
[0019021]9609.Habas, R.; Kato, Y.; He, X.: Wnt/Frizzled activation of Rho regulates vertebrate gastrulation and requires a novel Formin homology protein Daam1. Cell 107: 843-854, 2001.
[0019022]9610.Peters, C. S.; Liang, X.; Li, S.; Kannan, S.; Peng, Y.; Taub, R.; Diamond, R. H.: ATF-7, a novel bZIP protein, interacts with the PRL-1 protein-tyrosine phosphatase. J. Biol. Chem. 276: 13718-13726, 2001.
[0019023]9611.White, J. H.; McIllhinney, R. A. J.; Wise, A.; Ciruela, F.; Chan, W.-Y.; Emson, P. C.; Billinton, A.; Marshall, F. H.: The GABA-B receptor interacts directly with the related transcription factors CREB2 and ATFx. Proc. Nat. Acad. Sci. 97: 13967-13972, 2000.
[0019024]9612.Futai, E.; Kubo, T.; Sorimachi, H.; Suzuki, K.; Maeda, T.: Molecular cloning of PalBH, a mammalian homologue of the Aspergillus atypical calpain PalB. Biochim. Biophys. Acta 1517: 316-319, 2001.
[0019025]9613.Huang, Y.; Wang, K. K. W.: The calpain family and human disease. Trends Molec. Med. 7: 355-362, 2001.
[0019026]9614.Lee, H.-J.; Sorimachi, H.; Jeong, S.-Y.; Ishiura, S.; Suzuki, K. : Molecular cloning and characterization of a novel tissue-specific calpain predominantly expressed in digestive tract. Biol. Chem. 379: 175-183, 1998.
[0019027]9615.Yoshikawa, Y.; Mukai, H.; Hino, F.; Asada, K.; Kato, I.: Isolation of two novel genes, down-regulated in gastric cancer. Jpn. J. Cancer Res. 91: 459-463, 2000.
[0019028]9616.Burgess, D. L.; Gefrides, L. A.; Foreman, P. J.; Noebels, J. L. : A cluster of three novel Ca(2+) channel gamma subunit genes on chromosome 19q13.4: evolution and expression profile of the gamma subunit gene family. Genomics 71: 339-350, 2001.
[0019029]9617.Chu, P.-J.; Robertson, H. M.; Best, P. M.: Calcium channel gamma subunits provide insights into the evolution of this gene family. Gene 280: 37-48, 2001.
[0019030]9618.Chen, X.; Wen, S.; Fukuda, M. N.; Gavva, N. R.; Hsu, D.; Akama, T. O.; Yang-Feng, T.; Shen, C. K. J.: Human ITCH is a coregulator of the hematopoietic transcription factor NF-E2. Genomics 73: 238-241, 2001.
[0019031]9619.D'Andrea, A. D.; Serhan, C. N.: Relieving the Itch. Nature Genet. 18: 97-99, 1998.
[0019032]9620.Perry, W. L.; Hustad, C. M.; Swing, D. A.; O'Sullivan, T. N.; Jenkins, N. A.; Copeland, N. G.: The itchy locus encodes a novel ubiquitin protein ligase that is disrupted in a18H mice. Nature Genet. 18: 143-146, 1998.
[0019033]9621.Qiu, L.; Joazeiro, C.; Fang, N.; Wang, H.-Y.; Elly, C.; Altman, Y.; Fang, D.; Hunter, T.; Liu, Y.-C.: Recognition and ubiquitination of Notch by Itch, a Hect-type E3 ubiquitin ligase. J. Biol. Chem. 275: 35734-35737, 2000.
[0019034]9622.Winberg, G.; Matskova, L.; Chen, F.; Plant, P.; Rotin, D.; Gish, G.; Ingham, R.; Ernberg, I.; Pawson, T.: Latent membrane protein 2A of Epstein-Barr virus binds WW domain E3 protein-ubiquitin ligases that ubiquitinate B-cell tyrosine kinases. Molec. Cell. Biol. 20: 8526-8535, 2000.
[0019035]9623.Bradley, K. A.; Mogridge, J.; Mourez, M.; Collier, R. J.; Young, J. A. T.: Identification of the cellular receptor for anthrax toxin. Nature 414: 160-161, 2001.
[0019036]9624.Krause, A.; Neitz, S.; Magert, H.-J.; Schulz, A.; Forssmann, W.-G.; Schulz-Knappe, P.; Adermann, K.: LEAP-1, a novel highly disulfide-bonded human peptide, exhibits antimicrobial activity. FEBS Lett. 480: 147-150, 2000.
[0019037]9625.Nicolas, G.; Bennoun, M.; Devaux, I.; Beaumont, C.; Grandchamp, B.; Kahn, A.; Vaulont, S.: Lack of hepcidin gene expression and severe tissue iron overlad in upstream stimulatory factor 2 (USF2) knockout mice. Proc. Natl. Acad. Sci. 98: 8780-8785, 2001.
[0019038]9626.Nicolas, G.; Bennoun, M.; Porteu, A.; Mativet, S.; Beaumont, C.; Grandchamp, B.; Sirito, M.; Sawadogo, M.; Kahn, A.; Vaulont, S.: Severe iron deficiency anemia in transgenic mice expressing liver hepcidin. Proc. Nat. Acad. Sci. 99: 4596-4601, 2002.
[0019039]9627.Park, C. H.; Valore, E. V.; Waring, A. J.; Ganz, T.: Hepcidin, a urinary antimicrobial peptide synthesized in the liver. J. Biol. Chem. 276: 7806-7810, 2001.
[0019040]9628.Pigeon, C.; Ilyin, G.; Courselaud, B.; Leroyer, P.; Turlin, B.; Brissot, P.; Loreal, O.: A new mouse liver-specific gene, encoding a protein homologous to human antimicrobial peptide hepcidin, is overexpressed during iron overload. J. Biol. Chem. 276: 7811-7819, 2001.
[0019041]9629.Lin, M.; Napoli, J. L.: cDNA cloning and expression of a human aldehyde dehydrogenase (ALDH) active with 9-cis-retinal and identification of a rat ortholog, ALDH12. J. Biol. Chem. 275: 40106-40112, 2000.
[0019042]9630.Dragon, F.; Pogacic, V.; Filipowicz, W.: In vitro assembly of human H/ACA small nucleolar RNPs reveals unique features of U17 and telomerase RNAs. Molec. Cell. Biol. 20: 3037-3048, 2000.
[0019043]9631.Tollervey, D.; Kiss, T.: Function and synthesis of small nucleolar RNAs. Curr. Opin. Cell Biol. 9: 337-342, 1997.
[0019044]9632.Pogacic, V.; Dragon, F.; Filipowicz, W.: Human H/ACA small nucleolar RNPs and telomerase share evolutionarily conserved proteins NHP2 and NOP10. Molec. Cell. Biol. 20: 9028-9040, 2000.
[0019045]9633.Ichtchenko, K.; Nguyen, T.; Sudhof, T. C.: Structures, alternative splicing, and neurexin binding of multiple neuroligins. J. Biol. Chem. 271: 2676-2682, 1996.
[0019046]9634.Hammarsund, M.; Wilson, W.; Corcoran, M.; Merup, M.; Einhorn, S.; Grander, D.; Sangfelt, O.: Identification and characterization of two novel human mitochondrial elongation factor genes, hEFG2 and hEFG1, phylogenetically conserved through evolution. Hum. Genet. 109: 542-550, 2001.
[0019047]9635.Ishibashi, K.; Suzuki, M.; Sasaki, S.; Imai, M.: Identification of a new multigene fourtransmembrane family (MS4A) related to CD20, HTm4 and beta subunit of the high-affinity IgE receptor. Gene 264: 87-93, 2001.
[0019048]9636.Liang, Y.; Tedder, T. F.: Identification of a CD20-, Fc-epsilon-RI-beta-related gene family: sixteen new MS4A family members expressed in human and mouse. Genomics 72: 119-127, 2001.
[0019049]9637.Ishii, H.; Vecchione, A.; Murakumo, Y.; Baldassarre, G.; Numata, S.; Trapasso, F.; Alder, H.; Baffa, R.; Croce, C. M.: FEZ1/LZTS1 gene at 8p22 suppresses cancer cell growth and regulates mitosis. Proc. Nat. Acad. Sci. 98: 10374-10379, 2001.
[0019050]9638.Mahon, M. J.; Donowitz, M.; Yun, C. C.; Segre, G. V.: Na+/H+ exchanger regulatory factor 2 directs parathyroid hormone 1 receptor signalling. Nature 417: 858-861, 2002.
[0019051]9639.Poulat, F.; de Santa Barbara, P.; Desclozeaux, M.; Soullier, S.; Moniot, B.; Bonneaud, N.; Boizet, B.; Berta, P. The human testis determining factor SRY binds a nuclear factor containing PDZ protein interaction domains. J. Biol. Chem. 272: 7167-7172, 1997.
[0019052]9640.Yun, C.-H. C.; Lamprecht, G.; Forster, D. V.; Sidor, A.: NHE3 kinase A regulatory protein E3KARP binds the epithelial brush border Na(+)/H(+) exchanger NHE3 and the cytoskeletal protein ezrin. J. Biol. Chem. 273: 25856-25863, 1998.
[0019053]9641.Hall, R. A.; Ostedgaard, L. S.; Premont, R. T.; Blitzer, J. T.; Rahman, N.; Welsh, M. J.; Lefkowitz, R. J.: A C-terminal motif found in the beta-2-adrenergic receptor, P2Y1 receptor and cystic fibrosis transmembrane conductance regulator determines binding to the Na(+)/H(+) exchanger regulatory factor family of PDZ proteins. Proc. Nat. Acad. Sci. 95: 8496-8501, 1998.
[0019054]9642.Druck, T.; Podolski, J.; Byrski, T.; Wyrwicz, L.; Zajaczek, S.; Kata, G.; Borowka, A.; Lubinski, J.; Huebner, K.: The DIRC1 gene at chromosome 2q33 spans a familial RCC-associated t(2;3)(q33;q21) chromosome translocation. J. Hum. Genet. 46: 583-589, 2001.
[0019055]9643.Podolski, J.; Zajaczek, S.; Byrski, T.; Druck, T.; Zimonjic, D. B.; Popescu, N. C.; Lubinski, J.; Huebner, K.: Characterization of a familial RCC-associated t(2;3)(q33;q21) chromosome translocation. J. Hum. Genet. in-press, 2001.
[0019056]9644.Bruick, R. K.; McKnight, S. L.: A conserved family of prolyl-4-hydroxylases that modify HIF. Science 294: 1337-1340, 2001.
[0019057]9645.Epstein, A. C. R.; Gleadle, J. M.; McNeill, L. A.; Hewitson, K. S.; O'Rourke, J.; Mole, D. R.; Mukherji, M.; Metzen, E.; Wilson, M. I.; Dhanda, A.; Tian, Y.-M.; Masson, N.; Hamilton, D. L.; Jaakkola, P.; Barstead, R.; Hodgkin, J.; Maxwell, P. H.; Pugh, C. W.; Schofield, C. J.; Ratcliffe, P. J.: C. elegans EGL-9 and mammalian homologs define a family of dioxygenases that regulate HIF by prolyl hydroxylation. Cell 107: 43-54, 2001.
[0019058]9646.Dupuy, D.; Aubert, I.; Duperat, V. G.; Petit, J.; Taine, L.; Stef, M.; Bloch, B.; Arveiler, B.: Mapping, characterization, and expression analysis of the SM-20 human homologue, C1orf12, and identification of a novel related gene, SCAND2. Genomics 69: 348-354, 2000.
[0019059]9647.Ritter, J. K.; Crawford, J. M.; Owens, I. S.: Cloning of two human liver bilirubin UDPglucuronosyltransferase cDNAs with expression in COS-1 cells. J. Biol. Chem. 266: 1043-1047, 1991.
[0019060]9648.Rheaume, E.; Leblanc, J. F.; Lachance, Y.; Labrie, F.; Simard, J.: Detection of frequent BglII polymorphism by polymerase chain reaction and TaqI restriction fragment length polymorphism for 3-beta-hydroxysteroid dehydrogenase/delta-5-delta-4 isomerase at the human HSDB3 locus (1p11-p13). Hum. Genet. 87: 753-754, 1991.
[0019061]9649.Yamaguchi, N.; Benya, P. D.; van der Rest, M.; Ninomiya, Y.: The cloning and sequencing of alpha-1(VIII) collagen cDNAs demonstrate that type VIII collagen is a short chain collagen and contains triple-helical and carboxyl-terminal non-triple-helical domains similar to those of type X collagen. J. Biol. Chem. 264: 16022-16029, 1989.
[0019062]9650.Bleul, C. C.; Farzan, M.; Choe, H.; Parolin, C.; Clark-Lewis, I.; Sodroski, J.; Springer, T. A.: The lymphocyte chemoattractant SDF-1 is a ligand for LESTR/fusin and blocks HIV-1 entry. Nature 382: 829-833, 1996.
[0019063]9651.Caruz, A.; Samsom, M.; Alonso, J. M.; Alcami, J.; Baleux, F.; Virelizier, J. L.; Parmentier, M.; Arenzana-Seisdedos, F.: Genomic organization and promoter characterization of human CXCR4 gene. FEBS Lett. 426: 271-278, 1998.
[0019064]9652.Clapham, P. R.; Blanc, D.; Weiss, R. A.: Specific cell surface requirements for the infection of CD4-positive cells by human immunodeficiency virus types 1 and 2 and by Simian immunodeficiency virus. Virology 181: 703-715, 1991.
[0019065]9653.Dragic, T.; Alizon, M.: Different requirements for membrane fusion mediated by the envelopes of human immunodeficiency virus types 1 and 2. J. Virol. 67: 2355-2359, 1993.
[0019066]9654.Federsppiel, B.; Melhado, I. G.; Duncan, A. M. V.; Delaney, A.; Schappert, K.; Clark-Lewis, I.; Jirik, F. R.: Molecular cloning of the cDNA and chromosomal localization of the gene for a putative seven-transmembrane segment (7-TMS) receptor isolated from human spleen. Genomics 16: 707-712, 1993.
[0019067]9655.Feng, Y.; Broder, C. C.; Kennedy, P. E.; Berger, E. A.: HIV-1 entry cofactor: functional cDNA cloning of a seven-transmembrane, G protein-coupled receptor. Science 272: 872-876, 1996.
[0019068]9656.Hendrix, C. W.; Flexner, C.; MacFarland, R. T.; Giandomenico, C.; Fuchs, E. J.; Redpath, E.; Bridger, G.; Henson, G. W.: Pharmacokinetics and safety of AMD-3100, a novel antagonist of the CXCR-4 chemokine receptor, in human volunteers. Antimicrob. Agents Chemother. 44: 1667-1673, 2000.
[0019069]9657.Herzog, H.; Hort, Y. J.; Shine, J.; Selbie, L. A.: Molecular cloning, characterization, and localization of the human homolog to the reported bovine NPY Y3 receptor: lack of NPY binding and activation. DNA Cell Biol. 12: 465-471, 1993.
[0019070]9658.Jazin, E. E.; Yoo, H.; Blomqvist, A. G.; Yee, F.; Weng, G.; Walker, M. W.; Salon, J.; Larhammar, D.; Wahlestedt, C.: A proposed bovine neuropeptide Y (NPY) receptor cDNA clone, or its human homologue, confers neither NPY binding sites nor NPY responsiveness on transfected cells. Regul. Pept. 47: 247-258, 1993.
[0019071]9659.Liotta, L. A.: An attractive force in metastasis. Nature 410: 24-25, 2001.
[0019072]9660.Loetscher, M.; Geiser, T.; O'Reilly, T.; Zwahlen, R.; Baggiolini, M.; Moser, B.: Cloning of a human seven-transmembrane domain receptor, LESTR, that is highly expressed in leukocytes. J. Biol. Chem. 269: 232-237, 1994.
[0019073]9661.Lu, M.; Grove, E. A.; Miller, R. J.: Abnormal development of the hippocampal dentate gyrus in mice lacking the CXCR4 chemokine receptor. Proc. Nat. Acad. Sci. 99: 7090-7095, 2002.
[0019074]9662.Ma, Q.; Jones, D.; Borghesani, P. R.; Segal, R. A.; Nagasawa, T.; Kishimoto, T.; Bronson, R. T.; Springer, T. A.: Impaired B-lymphopoiesis, myelopoiesis, and derailed cerebellar neuron migration in CXCR4- and SDF-1-deficient mice. Proc. Nat. Acad. Sci. 95: 9448-9453, 1998.
[0019075]9663.Muller, A.; Homey, B.; Soto, H.; Ge, N.; Catron, D.; Buchanan, M. E.; McClanahan, T.; Murphy, E.; Yuan, W.; Wagner, S. N.; Barrera, J. L.; Mohar, A.; Verastegui, E.; Zlotnik, A.: Involvement of chemokine receptors in breast cancer metastasis. Nature 410: 50-56, 2001.
[0019076]9664.Nagasawa, T.; Hirota, S.; Tachibana, K.; Takakura, N.; Nishikawa, S.; Kitamura, Y.; Yoshida, N.; Kikutani, H.; Kishimoto, T.: Defects of B-cell lymphopoiesis and bone-marrow myelopoiesis in mice lacking the CXC chemokine PBSF/SDF-1. Nature 382: 635-638, 1996.
[0019077]9665.Oberlin, E.; Amara, A.; Bachelerie, F.; Bessia, C.; Virelizier, J.-L.; Arenzana-Seisdedos, F.; Schwartz, O.; Heard, J.-M.; Clark-Lewis, I.; Legler, D. F.; Loetscher, M.; Baggiollini, M.; Moser, B.: The CXC chemokine SDF-1 is the ligand for LESTR/fusin and prevents infection by T-cell-line-adapted HIV-1. Nature 382: 833-835, 1996.
[0019078]9666.Peled, A.; Petit, I.; Kollet, O.; Magid, M.; Ponomaryov, T.; Byk, T.; Nagler, A.; Ben-Hur, H.; Many, A.; Shultz, L.; Lider, O.; Alon, R.; Zipori, D.; Lapidot, T.: Dependence of human stem cell engraftment and repopulation of NOD/SCID mice on CXCR4. Science 283: 845-848, 1999.
[0019079]9667.Rimland, J.; Xin, W.; Sweetnam, P.; Saijoh, K.; Nestler, E. J.; Duman, R. S.: Sequence and expression of a neuropeptide Y receptor cDNA. Molec. Pharm. 40: 869-875, 1991.
[0019080]9668.Tachibana, K.; Hirota, S.; Iizasa, H.; Yoshida, H.; Kawabata, K.; Kataoka, Y.; Kitamura, Y.; Matsushima, K.; Yoshida, N.; Nishikawa, S.; Kishimoto, T.; Nagasawa, T.: The chemokine receptor CXCR4 is essential for vascularization of the gastrointestinal tract. Nature 393: 591-594, 1998.
[0019081]9669.Wegner, S. A.; Ehrenberg, P. K.; Chang, G.; Dayhoff, D. E.; Sleeker, A. L.; Michael, N. L.: Genomic organization and functional characterization of the chemokine receptor CXCR4, a major entry co-receptor for human immunodeficiency virus type 1. J. Biol. Chem. 273: 4754-4760, 1998.
[0019082]9670.Weiner, D. B.; Huebner, K.; Williams, W. V.; Greene, M. I.: Human genes other than CD4 facilitate HIV-1 infection of murine cells. Pathobiology 59: 361-371, 1991.
[0019083]9671.Szostecki, C.; Guldner, H. H.; Netter, H. J.; Will, H.: Isolation and characterization of cDNA encoding a human nuclear antigen predominantly recognized by autoantibodies from patients with primary biliary cirrhosis. J. Immun. 145: 4338-4347, 1990.
[0019084]9672.Freeman, G. J.; Disteche, C. M.; Gribben, J. G.; Adler, D. A.; Freedman, A. S.; Dougery, J.; Nadler, L. M.: The gene for B7, a costimulatory signal for T-cell activation, maps to chromosomal region 3q13.3-3q21. Blood 79: 489-494, 1992.
[0019085]9673.Reeves, R. H.; Patch, D.; Sharpe, A. H.; Borriello, F.; Freeman, G. J.; Edelhoff, S.; Disteche, C.: The costimulatory genes Cd80 and Cd86 are linked on mouse chromosome 16 and human chromosome 3. Mammalian Genome 8: 581-582, 1997.
[0019086]9674.Selvakumar, A.; Mohanraj, B. K.; Eddy, R. L.; Shows, T. B.; White, P. C.; Dupont, B.: Genomic organization and chromosomal location of the human gene encoding the B-lymphocyte activation antigen B7. Immunogenetics 36: 175-181, 1992.
[0019087]9675.Ha, H.; Kubagawa, H.; Burrows, P. D.: Molecular cloning and expression pattern of a human gene homologous to the murine mb-1 gene. J. Immun. 148: 1526-1531, 1992.
[0019088]9676.Hashimoto, S.; Mohrenweiser, H. W.; Gregersen, P. K.; Chiorazzi, N.: Chromosomal localization, genomic structure, and allelic polymorphism of the human CD79a (Ig-alpha/mb-1) gene. Immunogenetics 40: 287-295, 1994.
[0019089]9677.Reth, M.: Antigen receptors on B lymphocytes. Annu. Rev. Immun. 10: 97-121, 1992.
[0019090]9678.Liang, Y.; Buckley, T. R.; Tu, L.; Langdon, S. D.; Tedder, T. F. : Structural organization of the human MS4A gene cluster on chromosome 11q12. Immunogenetics 53: 357-368, 2001.
[0019091]9679.Tedder, T. F.; Disteche, C. M.; Louie, E.; Adler, D. A.; Croce, C. M.; Schlossman, S. F.; Saito, H.: The gene that encodes the human CD20 (B1) differentiation antigen is located on chromosome 11 near the t(11;14)(q13;q32) translocation site. J. Immun. 142: 2555-2559, 1989.
[0019092]9680.Tedder, T. F.; Klejman, G.; Schlossman, S. F.; Saito, H.: Structure of the gene encoding the human B lymphocyte differentiation antigen CD20 (B1). J. Immun. 142: 2560-2568, 1989.
[0019093]9681.Tedder, T. F.; Streuli, M.; Schlossman, S. F.; Saito, H.: Isolation and structure of a cDNA encoding the B1 (CD20) cell-surface antigen of human B lymphocytes. Proc. Nat. Acad. Sci. 85: 208-212, 1988.
[0019094]9682.Celeste, A. J.; Rosen, V.; Buecker, J. L.; Kriz, R.; Wang, E. A.; Wozney, J. M.: Isolation of the human gene for bone gla protein utilizing mouse and rat cDNA clones. EMBO J. 5: 1885-1890, 1986.
[0019095]9683.Desbois, C.; Seldin, M. F.; Karsenty, G.: Localization of the osteocalcin gene cluster on mouse chromosome 3. Mammalian Genome 5: 321-322, 1994.
[0019096]9684.Ducy, P.; Karsenty, G.: Two distinct osteoblast-specific cis-acting elements control expression of a mouse osteocalcin gene. Molec. Cell. Biol. 15: 1858-1869, 1995.
[0019097]9685.Ducy, P.; Zhang, R.; Geoffroy, V.; Ridall, A. L.; Karsenty, G. : Osf2/Cbfa1: a transcriptional activator of osteoblast differentiation. Cell 89: 747-754, 1997.
[0019098]9686.Kaplan, F. S.; Tabas, J. A.; Zasloff, M. A.: Fibrodysplasia ossificans progressiva: a clue from the fly? Calcif. Tissue Int. 47: 117-125, 1990.
[0019099]9687.Kerner, S. A.; Scott, R. A.; Pike, J. W.: Sequence elements in the human osteocalcin gene confer basal activation and inducible response to hormonal vitamin D(3). Proc. Nat. Acad. Sci. 86: 4455-4459, 1989.
[0019100]9688.Hopken, U. E.; Lu, D.; Gerard, N. P.; Gerard, C.: The C5a chemoattractant receptor mediates mucosal defense to infection. Nature 383: 86-89, 1996.
[0019101]9689.Chen, H.; Jawahar, S.; Qian, Y.; Duong, Q.; Chan, G.; Parker, A.; Meyer, J. M.; Moore, K. J.; Chayen, S.; Gross, D. J.; Glaser, B.; Permutt, M. A.; Fricker, L. D.: Missense polymorphism in the human carboxypeptidase E gene alters enzymatic activity. Hum. Mutat. 18: 120-131, 2001.
[0019102]9690.Hall, C.; Manser, E.; Spurr, N. K.; Lim, L.: Assignment of the human carboxypeptidase E (CPE) gene to chromosome 4. Genomics 15: 461-463, 1993.
[0019103]9691.Manser, E.; Fernandez, D.; Loo, L.; Goh, P. Y.; Monfries, C.; Hall, C.; Lim, L.: Human carboxypeptidase E: isolation and characterization of the cDNA, sequence conservation, expression and processing in vitro. Biochem. J. 267: 517-525, 1990.
[0019104]9692.Kas, K.; Schoenmakers, E. F. P. M.; Van de Ven, W. J. M.: Physical map location of the human carboxypeptidase M gene (CPM) distal to D12S375 and proximal to D12S8 at chromosome 12q15. Genomics 30: 403-405, 1995.
[0019105]9693.Rehli, M.; Krause, S. W.; Kreutz, M.; Andreesen, R.: Carboxypeptidase M is identical to the MAX.1 antigen and its expression is associated with monocyte to macrophage differentiation. J. Biol. Chem. 270: 15644-15649, 1995.
[0019106]9694.Tan, F.; Chan, S. J.; Steiner, D. F.; Schilling, J. W.; Skidgel, R. A.: Molecular cloning and sequencing of the cDNA for human membrane-bound carboxypeptidase M: comparison with carboxypeptidases A, B, H, and N. J. Biol. Chem. 264: 13165-13170, 1989.
[0019107]9695.Gold, P.; Freedman, S. O.: Demonstration of tumor-specific antigens in human colonic carcinomata by immunological tolerance and absorption techniques. J. Exp. Med. 121: 439-462, 1965.
[0019108]9696.Kamarck, M. E.; Elting, J. J.; Hart, J. T.; Goebel, S. J.; Rae, P. M. M.; Nothdurft, M. A.; Nedwin, J. J.; Barnett, T. R.: Carcinoembryonic antigen family: expression in a mouse L-cell transfectant and characterization of a partial cDNA in bacteriophage lambda-gt11. Proc. Nat. Acad. Sci. 84: 5350-5354, 1987.
[0019109]9697.Nishi, M.; Inazawa, J.; Inoue, K.; Nakagawa, H.; Taniwaki, M.; Misawa, S.; Oikawa, S.; Nakazato, H.; Abe, T.: Regional chromosomal assignment of carcinoembryonic antigen gene (CEA) to chromosome 19 at band q13.2. Cancer Genet. Cytogenet. 54: 77-81, 1991.
[0019110]9698.Oikawa, S.; Nakazato, H.; Kosaki, G.: Primary structure of human carcinoembryonic antigen (CEA) deduced from cDNA sequence. Biochem. Biophys. Res. Commun. 142: 511-528, 1987.
[0019111]9699.Thompson, J.; Zimmermann, W.: The carcinoembryonic antigen gene family: structure, expression and evolution. Tumor Biol. 9: 63-83, 1988.
[0019112]9700.Thompson, J. A.; Pande, H.; Paxton, R. J.; Shively, L.; Padma, A.; Simmer, R. L.; Todd, C. W.; Riggs, A. D.; Shively, J. E.: Molecular cloning of a gene belonging to the carcinoembryonic antigen gene family and discussion of a domain model. Proc. Nat. Acad. Sci. 84: 2965-2969, 1987.
[0019113]9701.Willcocks, T. C.; Craig, I. W.: Characterization of the genomic organization of human carcinoembryonic antigen (CEA): comparison with other family members and sequence analysis of 5-prime controlling region. Genomics 8: 492-500, 1990.
[0019114]9702.Willcocks, T. C.; Craig, S. P.; Coates, D.; Craig, I. W.: Coding sequences for carcinoembryonic antigen (CEA) assigned to human chromosome 19q13. (Abstract) Cytogenet. Cell Genet. 46: 716 only, 1987.
[0019115]9703.Zimmer, R.; Thomas, P.: Mutations in the carcinoembroyonic antigen gene in colorectal cancer patients: implications on liver metastasis. Cancer Res. 61: 2822-2826, 2001.
[0019116]9704.Zimmermann, W.; Ortlieb, B.; Friedrich, R.; von Kleist, S.: Isolation and characterization of cDNA clones encoding the human carcinoembryonic antigen reveal a highly conserved repeating structure. Proc. Nat. Acad. Sci. 84: 2960-2964, 1987.
[0019117]9705.Zimmermann, W.; Weber, B.; Ortlieb, B.; Rudert, F.; Schempp, W.; Fiebig, H.-H.; Shively, J. E.; von Kleist, S.; Thompson, J. A.: Chromosomal localization of the carcinoembryonic antigen gene family and differential expression in various tumors. Cancer Res. 48: 2550-2554, 1988.
[0019118]9706.Brewton, R. G.; Wood, B. M.; Ren, Z.-X.; Gong, Y.; Tiller, G. E.; Warman, M. L.; Lee, B.; Horton, W. A.; Olsen, B. R.; Baker, J. R.; Mayne, R.: Molecular cloning of the alpha-3 chain of human type IX collagen: linkage of the gene COL9A3 to chromosome 20q13.3. Genomics 30: 329-336, 1995.
[0019119]9707.Lohiniva, J.; Paassilta, P.; Seppanen, U.; Vierimaa, O.; Kivirikko, S.; Ala-Kokko, L.: Splicing mutations in the COL3 domain of collagen IX cause multiple epiphyseal dysplasia. Am. J. Med. Genet. 90: 216-222, 2000.
[0019120]9708.Paassilta, P.; Lohiniva, J.; Goring, H. H. H.; Perala, M.; Raina, S. S.; Karppinen, J.; Hakala, M.; Palm, T.; Kroger, H.; Kaitila, I.; Vanharanta, H.; Ott, J.; Ala-Kokko, L.: Identification of a novel common genetic risk factor for lumbar disk disease. J.A.M.A. 285: 1843-1849, 2001.
[0019121]9709.Tiller, G. E.; Warman, M. L.; Gong, Y.; Knoll, J. H. M.; Mayne, R.; and Brewton, R. G.: Physical and linkage mapping of the gene for the alpha-3 chain of type IX collagen, COL9A3, to human chromosome 20q13.3. Cytogenet. Cell Genet. 81: 205-207, 1998.
[0019122]9710.Henry, I.; Bernheim, A.; Bernard, M.; van der Rest, M.; Kimura, T.; Jeanpierre, C.; Barichard, F.; Berger, R.; Olsen, B. R.; Ramirez, F.; Junien, C.: Mapping of a human fibrillar collagen gene, pro alpha-1(XI)(COL11A1), to the p21 region of chromosome 1. Genomics 3: 87-90, 1988.
[0019123]9711.Bernard, M.; Yoshioka, H.; Rodriguez, E.; van der Rest, M.; Kimura, T.; Ninomiya, Y.; Olsen, B. R.; Ramirez, F.: Cloning and sequencing of pro-alpha1(XI) collagen cDNA demonstrated that type XI belongs to the fibrillar class of collagens and reveals that the expression of the gene is not restricted to cartilaginous tissue. J. Biol. Chem. 263: 17159-17166, 1988.
[0019124]9712.Li, Y.; Lacerda, D. A.; Warman, M.; Beier, D.; Oxford, J. T.; Morris, N.; Andrikopoulos, K.; Ramirez, F.; Taylor, B.; Seegmiller, R.; Olsen, B. R.: An abnormality in alpha-1(XI) collagen causes autosomal recessive chondrodysplasia (cho) in mice. (Abstract) Molec. Biol. Cell 4 (suppl. 1): 7a, 1993.
[0019125]9713.Li, Y.; Lacerda, D. A.; Warman, M. L.; Beier, D. R.; Yoshioka, H.; Ninomiya, Y.; Oxford, J. T.; Morris, N. P.; Andrikopoulos, K.; Ramirez, F.; Wardell, B. B.; Lifferth, G. D.; Teuscher, C.; Woodward, S. R.; Taylor, B. A.; Seegmiller, R. E.; Olsen, B. R.: A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis. Cell 80: 423-430, 1995.
[0019126]9714.Morris, N. P.; Bachinger, H. P.: Type XI collagen is a heterotrimer with the composition (1alpha,2alpha,3alpha) retaining non-triple-helical domains. J. Biol. Chem. 262: 11345-11350, 1987.
[0019127]9715.Ichinose, H.; Ohye, T.; Takahashi, E.; Seki, N.; Hori, T.; Segawa, M.; Nomura, Y.; Endo, K.; Tanaka, H.; Tsuji, S.; Fujita, K.; Nagatsu, T.: Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nature Genet. 8: 236-242, 1994.
[0019128]9716.Schuback, D.; Kramer, P.; Ozelius, L.; Holmgren, G.; Forsgren, L.; Kyllerman, M.; Wahlstrom, J.; Craft, C. M.; Nygaard, T.; Brin, M.; de Leon, D.; Bressman, S.; Moskowitz, C. B.; Burke, R. E.; Sanner, G.; Drugge, U.; Gusella, J. F.; Fahn, S.; Breakefield, X. O.: Dopamine beta-hydroxylase gene excluded in four subtypes of hereditary dystonia. Hum. Genet. 87: 311-316, 1991.
[0019129]9717.Steinberger, D.; Korinthenberg, R.; Topka, H.; Berghauser, M.; Wedde, R.; Muller, U.: Dopa-responsive dystonia: mutation analysis of GCH1 and analysis of therapeutic doses of L-dopa. Neurology 55: 1735-1737, 2000.
[0019130]9718.Arahata, K.; Hayashi, Y. K.; Mizuno, Y.; Yoshida, M.; Ozawa, E. : Dystrophinassociated glycoprotein and dystrophin co-localisation at sarcolemma in Fukuyama congenital muscular dystrophy. (Letter) Lancet 342: 623-624, 1993.
[0019131]9719.Campanelli, J. T.; Roberds, S. L.; Campbell, K. P.; Scheller, R. H.: A role for dystrophin-associated glycoproteins and utrophin in agrin-induced AChR clustering. Cell 77: 663-674, 1994.
[0019132]9720.Cao, W.; Henry, M. D.; Borrow, P.; Yamada, H.; Elder, J. H.; Ravkov, E. V.; Nichol, S. T.; Compans, R. W.; Campbell, K. P.; Oldstone, M. B. A.: Identification of alpha-dystroglycan as a receptor for lymphocytic choriomeningitis virus and Lassa fever virus. Science 282: 2079-2081, 1998.
[0019133]9721.Ottman, R.; Risch, N.; Hauser, W. A.; Pedley, T. A.; Lee, J. H.; Barker-Cummings, C.; Lustenberger, A.; Nagle, K. J.; Lee, K. S.; Scheuer, M. L.; Neystat, M.; Susser, M.; Wilhelmsen, K. C.: Localization of a gene for partial epilepsy to chromosome 10q. Nature Genet. 10: 56-60, 1995.
[0019134]9722.Stogmann, E.; Zimprich, A.; Baumgartner, C.; Aull-Watschinger, S.; Hollt, V.; Zimprich, F.: A functional polymorphism in the prodynorphin gene promoter is associated with temporal lobe epilespy. Ann. Neurol. 51: 260-263, 2002.
[0019135]9723.Summar, M. L.; Phillips, J. A., III; Battey, J.; Castiglione, C. M.; Kidd, K. K.; Maness, K. J.; Weiffenbach, B.; Gravius, T. C.: Linkage relationships of human arginine vasopressin-neurophysin-II and oxytocin-neurophysin-I to prodynorphin and other loci on chromosome 20. Molec. Endocr. 4: 947-950, 1990.
[0019136]9724.Zimprich, A.; Kraus, J.; Woltje, M.; Mayer, P.; Rauch, E.; Hollt, V.: An allelic variation in the human prodynorphin gene promoter alters stimulus-induced expression. J. Neurochem. 74: 472-477, 2000.
[0019137]9725.Craig, S. P.; Day, I. N. M.; Thompson, R. J.; Craig, I. W.: Localization of human neurone-specific enolase to chromosome 12p13. (Abstract) Cytogenet. Cell Genet. 51: 980 only, 1989.
[0019138]9726.Craig, S. P.; Day, I. N. M.; Thompson, R. J.; Craig, I. W.: Localisation of neuronespecific enolase (ENO2) to 12p13. Cytogenet. Cell Genet. 54: 71-73, 1990.
[0019139]9727.Feo, S.; Oliva, D.; Barbieri, G.; Xu, W.; Fried, M.; Giallongo, A.: The gene for the muscle-specific enolase is on the short arm of human chromosome 17. Genomics 6: 192-194, 1990.
[0019140]9728.Grzeschik, K.-H.: Assignment of human genes: beta-glucuronidase to chromosome 7, adenylate kinase-1 to 9, a second enzyme with enolase activity to 12, and mitochondrial IDH to 15. Cytogenet. Cell Genet. 16: 142-148, 1976. Note: Alternate: Birth Defects Orig. Art. Ser. 12(7): 142-148, 1976.
[0019141]9729.Herbschleb-Voogt, E.; Monteba-van Heuvel, M.; Wijnen, L. M. M.; Westerveld, A.; Pearson, P. L.; Meera Khan, P.: Chromosomal assignment and regional localization of CS, ENO-2, GAPDH, LDH-B, PEP-B and TPI in man-rodent cell hybrids. Cytogenet. Cell Genet. 22: 482-486, 1978.
[0019142]9730.Hinks, L. J.; Day, I. N. M.: Further studies of enolase loci. (Abstract) Cytogenet. Cell Genet. 58: 1854 only, 1991.
[0019143]9731.Law, M. L.; Kao, F.: Regional mapping of the gene coding for enolase-2 on human chromosome 12. J. Cell Sci. 53: 245-254, 1982.
[0019144]9732.Mattei, J. F.; Baeteman, M. A.; Mattei, M. G.; Ardissonne, J. P.; Giraud, F.: Regional assignments of CS and ENO2 on chromosome 12. (Abstract) Cytogenet. Cell Genet. 32: 297 only, 1982.
[0019145]9733.Oliva, D.; Cali, L.; Feo, S.; Giallongo, A.: Complete structure of the human gene encoding neuron-specific enolase. Genomics 10: 157-165, 1991.
[0019146]9734.Jenkins, N. A.; Justice, M. J.; Gilbert, D. J.; Chu, M.-L.; Copeland, N. G.: Nidogen/entactin (Nid) maps to the proximal end of mouse chromosome 13 linked to beige (bg) and identifies a new region of homology between mouse and human chromosomes. Genomics 9: 401-403, 1991.
[0019147]9735.Olavesen, M. G.; Bentley, E.; Mason, R. V. F.; Stephens, R. J.; Ragoussis, J.: Fine mapping of 39 ESTs on human chromosome 6p23-p25. Genomics 46: 303-306, 1997.
[0019148]9736.Boyd, C. D.; Toth-Fejel, S.; Gadi, I. K.; Litt, M.; Condon, M. R.; Kolbe, M.; Hagen, I. K.; Kurkinen, M.; Mackenzie, J. W.; Magenis, E.: The genes coding for human pro alpha-1(IV) collagen and pro alpha-2(IV) collagen are both located at the end of the long arm of chromosome 13. Am. J. Hum. Genet. 42: 309-314, 1988.
[0019149]9737.Brazel, D.; Pollner, R.; Oberbaumer, I.; Kuhn, K.: Human basement membrane collagen (type IV): the amino acid sequence of the alpha-2(IV) chain and its comparison with the alpha-1(IV) chain reveals deletions in the alpha-1(IV) chain. Europ. J. Biochem. 172: 35-42, 1988.
[0019150]9738.Griffin, C. A.; Emanuel, B. S.; Hansen, J. R.; Cavenee, W. K.; Myers, J. C.: Human collagen genes encoding basement membrane alpha-1(IV) and alpha-2(IV) chains map to the distal long arm of chromosome 13. Proc. Nat. Acad. Sci. 84: 512-516, 1987.
[0019151]9739.Haniel, A.; Welge-Lussen, U.; Kuhn, K.; Poschl, E.: Identification and characterization of a novel transcriptional silencer in the human collagen type IV gene COL4A2. J. Biol. Chem. 270: 11209-11215, 1995.
[0019152]9740.Killen, P. D.; Francomano, C. A.; Yamada, Y.; Modi, W. S.; O'Brien, S. J.: Partial structure of the human alpha-2(IV) collagen chain and chromosomal localization of the gene (COL4A2). Hum. Genet. 77: 318-324, 1987.
[0019153]9741.Solomon, E.; Hall, V.; Kurkinen, M.: The human alpha-2(IV) collagen gene, COL4A2, is syntenic with the alpha-1(IV) gene, COL4A1, on chromosome 13. Ann. Hum. Genet. 51: 125-127, 1987.
[0019154]9742.Apte, S.; Mattei, M.-G.; Olsen, B. R.: Cloning of human alpha-1(X) collagen DNA and localization of the COL10A1 gene to the q21-q22 region of human chromosome 6. FEBS Lett. 282: 393-396, 1991.
[0019155]9743.Apte, S. S.; Seldin, M. F.; Hayashi, M.; Olsen, B. R.: Cloning of the human and mouse type X collagen genes and mapping of the mouse type X collagen gene to chromosome 10. Europ. J. Biochem. 206: 217-224, 1992.
[0019156]9744.Chan, D.; Weng, Y. M.; Graham, H. K.; Sillence, D. O.; Bateman, J. F.: A nonsense mutation in the carboxyl-terminal domain of type X collagen causes haploinsufficiency in Schmid metaphyseal chondrodysplasia. J. Clin. Invest. 101: 1490-1499, 1998.
[0019157]9745.Dharmavaram, R. M.; Elberson, M. A.; Peng, M.; Kirson, L. A.; Kelley, T. E.; Jimenez, S. A.: Identification of a mutation in type X collagen in a family with Schmid metaphyseal chondrodysplasia. Hum. Molec. Genet. 3: 507-509, 1994.
[0019158]9746.Alper, C. A.; Marcus, D.; Raum, D.; Petersen, B. H.; Spira, T. J.: Genetic polymorphism in C8 beta-chains: evidence for two unlinked genetic loci for the eighth component of human complement (C8). J. Clin. Invest. 72: 1526-1531, 1983.
[0019159]9747.Densen, P.; Brown, E. J.; O'Neill, G. J.; Tedesco, F.; Clark, R. A.; Frank, M. M.; Webb, D.; Myers, J.: Inherited deficiency of C8 in a patient with recurrent meningococcal infections: further evidence for a dysfunctional C8 molecule and nonlinkage to the HLA system. J. Clin. Immun. 3: 90-99, 1983.
[0019160]9748.Giraldo, G.; Degos, L.; Beth, E.; Sasportes, M.; Marcelli, A.; Gharbi, R.; Day, N. K.: C8 deficiency in a family with xeroderma pigmentosum: lack of linkage to HLA region. Clin. Immun. Immunopath. 8: 377-384, 1977.
[0019161]9749.Jasin, H. E.: Absence of the eighth component of complement in association with systemic lupus erythematosus-like disease. J. Clin. Invest. 60: 709-715, 1977.
[0019162]9750.Kolb, W. P.; Muller-Eberhard, H. J.: The membrane attack mechanism of complement: the three polypeptide chain structure of the eighth component (C8). J. Exp. Med. 143: 1131-1139, 1976.
[0019163]9751.Komatsu, M.; Imaoka, K.; Satoh, M.; Mikami, H.: Hereditary C8-alpha-gamma deficiency associated with dwarfism in the rabbit. J. Hered. 81: 413-417, 1990.
[0019164]9752.Komatsu, M.; Yamamoto, K.; Kawashima, T.; Migita, S.: Genetic deficiency of the alpha-gamma-subunit of the eighth complement component in the rabbit. J. Immun. 134: 2607-2609, 1985.
[0019165]9753.Marcus, D.; Spira, T. J.; Petersen, B. H.; Raum, D.; Alper, C. A.: There are two unlinked genetic loci for human C8. (Abstract) Molec. Immun. 19: 1385 only, 1982.
[0019166]9754.Matthews, N.; Stark, J. M.; Harper, P. S.; Doran, J.; Jones, D. M.: Recurrent meningococcal infections associated with a functional deficiency of the C8 component of human complement. Clin. Exp. Immun. 39: 53-59, 1980.
[0019167]9755.Merritt, A. D.; Petersen, B. H.; Biegel, A. A.; Meyers, D. A.; Brooks, G. F.; Hodes, M. E.: Chromosome 6: linkage of the eighth component of complement (C8) to the histocompatibility region (HLA). Cytogenet. Cell Genet. 16: 331-334, 1976.
[0019168]9756.Michelotti, G. A.; Snider, J. V.; Sodetz, J. M.: Genomic organization of human complement protein C8-alpha and further examination of its linkage to C8-beta. Hum. Genet. 95: 513-518, 1995.
[0019169]9757.Nakamura, S.; Ohue, O.; Abe, K.: Genetic polymorphism of human complement component C81 in the Japanese population. Hum. Genet. 72: 344-347, 1986.
[0019170]9758.Pericak-Vance, M. A.; Elston, R. C.; Spira, T. J.; Band, J.: Segregation and linkage analysis of immunochemical C8 levels in a family with C8 beta-chain deficiency. (Abstract) Am. J. Hum. Genet. 34: 109A only, 1982.
[0019171]9759.Petersen, B. H.; Graham, J. A.; Brooks, G. F.: Human deficiency of the eighth component of complement: the requirement of C8 for serum Neisseria gonorrhoeae bactericidal activity. J. Clin. Invest. 57: 283-290, 1976.
[0019172]9760.Pickering, R. J.; Rynes, R. I.; LoCascio, N.; Monahan, J. B.; Sodetz, J. M.: Identification of the alpha-gamma subunit of the eighth component of complement (C8) in a patient with systemic lupus erythematosus and absent C8 activity: patient and family studies. Clin. Immun. Immunopath. 23: 323-334, 1982.
[0019173]9761.Rittner, C.; Hargesheimer, W.; Mollenhauer, E.: Population and formal genetics of the human C81(alpha-gamma) polymorphism. Hum. Genet. 67: 166-169, 1984.
[0019174]9762.Rittner, C.; Hargesheimer, W.; Stradmann, B.; Bertrams, J.; Baur, M. P.; Petersen, B. H.: Human C81 (alpha-gamma) polymorphism: detection in the alpha-gamma subunit on SDS-PAGE, formal genetics and linkage relationship. Am. J. Hum. Genet. 38: 482-491, 1986.
[0019175]9763.Rogde, S.; Gedde-Dahl, T., Jr.; Teisberg, P.; Jonassen, R.; Hoyheim, B.; Olaisen, B.: Linkage and association studies with C8A and C8B RFLPs on chromosome 1. Ann. Hum. Genet. 56: 233-242, 1992.
[0019176]9764.Rogde, S.; Mevag, B.; Olaisen, B.; Gedde-Dahl, T., Jr.; Teisberg, P.: Structural genes for complement factor C8 on chromosome 1. (Abstract) Cytogenet. Cell Genet. 37: 571 only, 1984.
[0019177]9765.Rogde, S.; Mevag, B.; Teisberg, P.; Gedde-Dahl, T., Jr.; Tedesco, F.; Olaisen, B.: Genetic polymorphism of complement component C8. Hum. Genet. 70: 211-216, 1985.
[0019178]9766.Rogde, S.; Olaisen, B.; Gedde-Dahl, T., Jr.; Teisberg, P.: Two complement component C8 loci are localized between PGM1 and Rh on chromosome 1. (Abstract) Cytogenet. Cell Genet. 40: 734-735, 1985.
[0019179]9767.Rogde, S.; Olaisen, B.; Gedde-Dahl, T., Jr.; Teisberg, P.: The C8A and C8B loci are closely linked on chromosome 1. Ann. Hum. Genet. 50: 139-144, 1986.
[0019180]9768.Tedesco, F.; Densen, P.; Villa, M. A.; Petersen, B. H.; Sirchia, G.: Two types of dysfunctional eighth component of complement (C8) molecules in C8 deficiency in man: reconstitution of normal C8 from the mixture of two abnormal C8 molecules. J. Clin. Invest. 71: 183-191, 1983.
[0019181]9769.Glaser, R. L.; Jiang, W.; Boyadjiev, S. A.; Tran, A. K.; Zachary, A. A.; Van Maldergem, L.; Johnson, D.; Walsh, S.; Oldridge, M.; Wall, S. A.; Wilkie, A. O. M.; Jabs, E. W.: Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. Am. J. Hum. Genet. 66: 768-777, 2000.
[0019182]9770.Jones, K. L.; Smith, D. W.; Harvey, M. A. S.; Hall, B. D.; Quan, L.: Older paternal age and fresh gene mutation: data on additional disorders. J. Pediat. 86: 84-88, 1975.
[0019183]9771.Meyers, G. A.; Orlow, S. J.; Munro, I. R.; Przylepa, K. A.; Jabs, E. W.: Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. Nature Genet. 11: 462-464, 1995.
[0019184]9772.Preston, R. A.; Post, J. C.; Keats, B. J. B.; Aston, C. E.; Ferrell, R. E.; Priest, J.; Nouri, N.; Losken, H. W.; Morris, C. A.; Hurtt, M. R.; Mulvihill, J. J.; Ehrlich, G. D.: A gene for Crouzon craniofacial dysostosis maps to the long arm of chromosome 10. Nature Genet. 7: 149-153, 1994.
[0019185]9773.Reardon, W.; Winter, R. M.; Rutland, P.; Pulleyn, L. J.; Jones, B. M.; Malcolm, S.: Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nature Genet. 8: 98-103, 1994.
[0019186]9774.Jankowski, S. A.; Gumucio, D. L.: Genes for tensin, villin and desmin are linked on mouse chromosome 1. Mammalian Genome 6: 744-745, 1995.
[0019187]9775.Quax, W.; Meera Khan, P.; Quax-Jeuken, Y.; Bloemendal, H.: The human desmin and vimentin genes are located on different chromosomes. Gene 38: 189-196, 1985.
[0019188]9776.Sibilia, M.; Fleischmann, A.; Behrens, A.; Stingl, L.; Carroll, J.; Watt, F. M.; Schlessinger, J.; Wagner, E. F.: The EGF receptor provides an essential survival signal for SOSdependent skin tumor development. Cell 102: 211-220, 2000.
[0019189]9777.Spurr, N. K.; Solomon, E.; Jansson, M.; Sheer, D.; Goodfellow, P. N.; Bodmer, W. F.; Vennstrom, B.: Chromosomal localisation of the human homologues to the oncogenes erbA and B. EMBO J. 3: 159-163, 1984.
[0019190]9778.Thaung, C.; West, K.; Clark, B. J.; McKie, L.; Morgan, J. E.; Arnold, K.; Nolan, P. M.; Peters, J.; Hunter, A. J.; Brown, S. D. M.; Jackson, I. J.; Cross, S. H.: Novel ENU-induced eye mutations in the mouse: models for human eye disease. Hum. Molec. Genet. 11: 755-767, 2002.
[0019191]9779.Baumann, C. A.; Ribon, V.; Kanzaki, M.; Thurmond, D. C.; Mora, S.; Shigematsu, S.; Bickel, P. E.; Pessin, J. E.; Saltiel, A. R.: CAP defines a second signalling pathway required for insulinstimulated glucose transport. Nature 407: 202-207, 2000.
[0019192]9780.Bickel, P. E.; Scherer, P. E.; Schnitzer, J. E.; Oh, P.; Lisanti, M. P.; Lodish, H. F.: Flotillin and epidermal surface antigen define a new family of caveolae-associated integral membrane proteins. J. Biol. Chem. 272: 13793-13802, 1997.
[0019193]9781.Cho, Y.-J.; Chema, D.; Moskow, J. J.; Cho, M.; Schroeder, W. T.; Overbeek, P.; Buchberg, A. M.; Duvic, M.: Epidermal surface antigen (MS17S1) is highly conserved between mouse and human. Genomics 27: 251-258, 1995.
[0019194]9782.Kayes, L. M.; Schroeder, W. T.; Marchuk, D. A.; Collins, F. S.; Riccardi, V. M.; Duvic, M.; Stephens, K.: The gene for a novel epidermal antigen maps near the neurofibromatosis 1 gene. Genomics 14: 369-376, 1992.
[0019195]9783.Schroeder, W. T.; Siciliano, M. J.; Stewart-Galetka, S. L.; Duvic, M.: The human gene for an epidermal surface antigen (M17S1) is located at 17q11-12. Genomics 11: 481-482, 1991.
[0019196]9784.Schroeder, W. T.; Stephens, K.; Stewart-Galetka, S.; Riccardi, V.; Duvic, M.: The gene for an epidermal surface antigen is in close proximity to the locus for von Recklinghausen neurofibromatosis. (Abstract) Clin. Res. 39: 323A only, 1991.
[0019197]9785.Mitchell, B. D.; Cole, S. A.; Bauer, R. L.; Iturria, S. J.; Rodriguez, E. A.; Blangero, J.; MacCluer, J. W.; Hixson, J. E.: Genes influencing variation in serum osteocalcin concentrations are linked to markers on chromosomes 16q and 20q. J. Clin. Endocr. Metab. 85: 1362-1366, 2000.
[0019198]9786.Richards, A. J.; Yates, J. R. W.; Williams, R.; Payne, S. J.; Pope, F. M.; Scott, J. D.; Snead, M. P.: A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha-1(XI) collagen. Hum. Molec. Genet. 5: 1339-1343, 1996.
[0019199]9787.Cohn, R. D.; Henry, M. D.; Michele, D. E.; Barresi, R.; Saito, F.; Moore, S. A.; Flanagan, J. D.; Skwarchuk, M. W.; Robbins, M. E.; Mendell, J. R.; Williamson, R. A.; Campbell, K. P.: Disruption of Dag1 in differentiated skeletal muscle reveals a role for dystroglycan in muscle regeneration. Cell 110: 639-648, 2002.
[0019200]9788.Apperley, J. F.; Gardembas, M.; Melo, J. V.; Russell-Jones, R.; Bain, B. J.; Baxter, E. J.; Chase, A.; Chessells, J. M.; Colombat, M.; Dearden, C. E.; Dimitrijevic, S.; Mahon, F.-X.; Marin, D.; Nikolova, Z.; Olavarria, E.; Silberman, S.; Schultheis, B.; Cross, N. C. P.; Goldman, J. M.: Response to imatinib mesylate in patients with chronic myeloproliferative diseases with rearrangements of the plateletderived growth factor receptor beta. New Eng. J. Med. 347: 481-487, 2002.
[0019201]9789.Shanske, A.; Bogdanow, A.; Shprintzen, R. J.; Marion, R. W.: Marshall syndrome and a defect at the COL11A1 locus. (Letter) Am. J. Hum. Genet. 63: 1558-1559, 1998.
[0019202]9790.Yoshioka, H.; Inoguchi, K.; Khaleduzzaman, M.; Ninomiya, Y.; Andrikopoulos, K.; Ramirez, F.: Coding sequence and alternative splicing of the mouse alpha-1(XI) collagen gene (Col11a1). Genomics 28: 337-340, 1995.
[0019203]9791.Zhidkova, N. I.; Justice, S. K.; Mayne, R.: Alternative mRNA processing occurs in the variable region of the pro-alpha-1(XI) and pro-alpha-2(XI) collagen chains. J. Biol. Chem. 270: 9486-9493, 1995.
[0019204]9792.Spear, P. G.: A welcome mat for leprosy and Lassa fever. Science 282: 1999-2000, 1998.
[0019205]9793.Tinsley, J. M.; Blake, D. J.; Zuellig, R. A.; Davies, K. E.: Increasing complexity of the dystrophin-associated protein complex. Proc. Nat. Acad. Sci. 91: 8307-8313, 1994.
[0019206]9794.Williamson, R. A.; Henry, M. D.; Daniels, K. J.; Hrstka, R. F.; Lee, J. C.; Sunada, Y.; Ibraghimov-Beskrovnaya, O.; Campbell, K. P. : Dystroglycan is essential for early embryonic development: disruption of Reichert's membrane in Dag1-null mice. Hum. Molec. Genet. 6: 831-841, 1997.
[0019207]9795.Yamada, H.; Denzer, A. J.; Hori, H.; Tanaka, T.; Anderson, L. V. B.; Fujita, S.; Fukuta-Ohi, H.; Shimizu, T.; Ruegg, M. A.; Matsumura, K.: Dystroglycan is a dual receptor for agrin and laminin-2 in Schwann cell membrane. J. Biol. Chem. 271: 23418-23423, 1996.
[0019208]9796.Cote, P. D.; Moukhles, H.; Lindenbaum, M.; Carbonetto, S.: Chimaeric mice deficient in dystroglycans develop muscular dystrophy and have disrupted myoneural synapses. Nature Genet. 23: 338-342, 1999.
[0019209]9797.Gee, S. H.; Montanaro, F.; Lindenbaum, M. H.; Carbonetto, S.: Dystroglycan-alpha, a dystrophin-associated glycoprotein, is a functional agrin receptor. Cell 77: 675-686, 1994.
[0019210]9798.Gorecki, D. C.; Derry, J. M. J.; Barnard, E. A.: Dystroglycan: brain localisation and chromosome mapping in the mouse. Hum. Molec. Genet. 3: 1589-1597, 1994.
[0019211]9799.Hayashi, Y. K.; Ogawa, M.; Tagawa, K.; Noguchi, S.; Ishihara, T.; Nonaka, I.; Arahata, K.: Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy. Neurology 57: 115-121, 2001.
[0019212]9800.Henry, M. D.; Campbell, K. P.: A role for dystroglycan in basement membrane assembly. Cell 95: 859-970, 1998.
[0019213]9801.Ibraghimov-Beskrovnaya, O.; Ervasti, J. M.; Leveille, C. J.; Slaughter, C. A.; Sernett, S. W.; Campbell, K. P.: Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix. Nature 355: 696-702, 1992.
[0019214]9802.Ibraghimov-Beskrovnaya, O.; Milatovich, A.; Ozcelik, T.; Yang, B.; Francke, U.; Campbell, K. P.: Dystroglycan: tissue distribution, human muscle cDNA, genomic structure and chromosome mapping. (Abstract) Am. J. Hum. Genet. 51 (suppl.): A130 only, 1992.
[0019215]9803.Ibraghimov-Beskrovnaya, O.; Milatovich, A.; Ozcelik, T.; Yang, B.; Koepnick, K.; Francke, U.; Campbell, K. P.: Human dystroglycan: skeletal muscle cDNA, genomic structure, origin of tissue specific isoforms and chromosomal localization. Hum. Molec. Genet. 2: 1651-1657, 1993.
[0019216]9804.Ma, J.; Nastuk, M. A.; McKechnie, B. A.; Fallon, J. R.: The agrin receptor: localization in the postsynaptic membrane, interaction with agrin, and relationship to the acetylcholine receptor. J. Biol. Chem. 268: 25108-25117, 1993.
[0019217]9805.Matsumura, K.; Nonaka, I.; Campbell, K. P.: Abnormal expression of dystrophinassociated proteins in Fukuyama-type congenital muscular dystrophy. Lancet 341: 521-522, 1993.
[0019218]9806.Matsumura, K.; Tome, F. M. S.; Collin, H.; Azibi, K.; Chaouch, M.; Kaplan, J.-C.; Fardeau, M.; Campbell, K. P.: Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy. Nature 359: 320-322, 1992.
[0019219]9807.Matsumura, K.; Tome, F. M. S.; Ionasescu, V.; Ervasti, J. M.; Anderson, R. D.; Romero, N. B.; Simon, D.; Recan, D.; Kaplan, J.-C.; Fardeau, M.; Campbell, K. P.: Deficiency of dystrophinassociated proteins in Duchenne muscular dystrophy patients lacking COOH-terminal domains of dystrophin. J. Clin. Invest. 92: 866-871, 1993.
[0019220]9808.Michele, D. E.; Barresi, R.; Kanagawa, M.; Saito, F.; Cohn, R. D.; Satz, J. S.; Dollar, J.; Nishino, I.; Kelley, R. I.; Somer, H.; Straub, V.; Mathews, K. D.; Moore, S. A.; Campbell, K. P.: Posttranslational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature 418: 417-422, 2002.
[0019221]9809.Moore, S. A.; Saito, F.; Chen, J.; Michele, D. E.; Henry, M. D.; Messing, A.; Cohn, R. D.; Ross-Barta, S. E.; Westra, S.; Williamson, R. A.; Hoshi, T.; Campbell, K. P.: Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy. Nature 418: 422-425, 2002.
[0019222]9810.Rambukkana, A.; Yamada, H.; Zanazzi, G.; Mathus, T.; Salzer, J. L.; Yurchenco, P. D.; Campbell, K. P.; Fischetti, V. A.: Role of alpha-dystroglycan as a Schwann cell receptor for Mycobacterium leprae. Science 282: 2076-2078, 1998.
[0019223]9811.Sealock, R.; Froehner, S. C.: Dystrophin-associated proteins and synapse formation: is alpha-dystroglycan the agrin receptor? Cell 77: 617-619, 1994.
[0019224]9812.Yamada, H.; Saito, F.; Fukuta-Ohi, H.; Zhong, D.; Hase, A.; Arai, K.; Okuyama, A.; Maekawa, R.; Shimizu, T.; Matsumura, K.: Processing of beta-dystroglycan by matrix metalloproteinase disrupts the link between the extracellular matrix and cell membrane via the dystroglycan complex. Hum. Molec. Genet. 10: 1563-1569, 2001.
[0019225]9813.Blake, D. J.; Love, D. R.; Tinsley, J.; Morris, G. E.; Turley, H.; Gatter, K.; Dickson, G.; Edwards, Y. H.; Davies, K. E.: Characterization of a 4.8kb transcript from the Duchenne muscular dystrophy locus expressed in schwannoma cells. Hum. Molec. Genet. 1: 103-109, 1992.
[0019226]9814.Golub, T. R.; Barker, G. F.; Lovett, M.; Gilliland, D. G.: Fusion of PDGF receptor beta to a novel ets-like gene, tel, in chronic myelomonocytic leukemia with t(5;12) chromosomal translocation. Cell 77: 307-316, 1994.
[0019227]9815.Brissenden, J. E.; Ullrich, A.; Francke, U.: Chromosomal mapping of loci for insulinlike growth factors I and II and for epidermal growth factor in man. (Abstract) Am. J. Hum. Genet. 36: 133S only, 1984.
[0019228]9816.Brissenden, J. E.; Ullrich, A.; Francke, U.: Human chromosomal mapping of genes for insulin-like growth factors I and II and epidermal growth factor. Nature 310: 781-784, 1984.
[0019229]9817.Morton, C. C.; Byers, M. G.; Nakai, H.; Bell, G. I.; Shows, T. B.: Human genes for insulin-like growth factors I and II and epidermal growth factor are located on 12q22-q24.1, 11p15, and 4q25-q27, respectively. Cytogenet. Cell Genet. 41: 245-249, 1986.
[0019230]9818.Chen, B.; Bronson, R. T.; Klaman, L. D.; Hampton, T. G.; Wang, J.; Green, P. J.; Magnuson, T.; Douglas, P. S.; Morgan, J. P.; Neel, B. G.: Mice mutant for Egfr and Shp2 have defective cardiac semilunar valvulogenesis. Nature Genet. 24: 296-299, 2000.
[0019231]9819.Ishii, H.; Baffa, R.; Numata, S.-I.; Murakumo, Y.; Rattan, S.; Inoue, H.; Mori, M.; Fidanza, V.; Alder, H.; Croce, C. M.: The FEZ1 gene at chromosome 8p22 encodes a leucine-zipper protein, and its expression is altered in multiple human tumors. Proc. Nat. Acad. Sci. 96: 3928-3933, 1999.
[0019232]9820.Li, G.; Hu, N.; Goldstein, A. M.; Tang, Z.-Z.; Roth, M. J.; Wang, Q.-H.; Dawsey, S. M.; Han, X.-Y.; Ding, T.; Huang, J.; Giffen, C.; Taylor, P. R.; Emmert-Buck, M. R.: Allelic loss on chromosome bands 13q11-q13 in esophageal squamous cell carcinoma. Genes Chromosomes Cancer 31: 390-397, 2001.
[0019233]9821.Lo, H. S.; Hu, N.; Gere, S.; Lu, N.; Su, H.; Goldstein, A. M.; Taylor, P. R.; Lee, M. P.: Identification of somatic mutations of the RNF6 gene in human esophageal squamous cell carcinoma. Cancer Res. 62: 4191-4193, 2002.
[0019234]9822.Wang, M.; Price, C. E.; Han, J.; Cisler, J.; Imaizumi, K.; Van Thienen, M. N.; DePaepe, A.; Godfrey, M.: Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome. Hum. Molec. Genet. 4: 607-613, 1995.
[0019235]9823.Beck, C.; Moulard, B.; Steinlein, O.; Guipponi, M.; Vallee, L.; Montpied, P.; Baldy-Moulnier, M.; Malafosse, A.: A nonsense mutation in the alpha-4 subunit of the nicotinic acetylcholine receptor (CHRNA4) cosegregates with 20q-linked benign neonatal familial convulsions (EBN1). Neurobiol. Dis. 1: 95-99, 1994.
[0019236]9824.Singh, N. A.; Charlier, C.; Stauffer, D.; DuPont, B. R.; Leach, R. J.; Melis, R.; Ronen, G. M.; Bjerre, I.; Quattlebaum, T.; Murphy, J. V.; McHarg, M. L.; Gagnon, D.; Rosales, T. O.; Peiffer, A.; Anderson, V. E.; Leppert, M.: A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nature Genet. 18: 25-29, 1998.
[0019237]9825.Earnshaw, W. C.; Sullivan, K. F.; Machlin, P. S.; Cooke, C. A.; Kaiser, D. A.; Pollard, T. D.; Rothfield, N. F.; Cleveland, D. W. : Molecular cloning of cDNA for CENP-B, the major human centromere autoantigen. J. Cell Biol. 104: 817-829, 1987.
[0019238]9826.Seki, N.; Saito, T.; Kitagawa, K.; Masumoto, H.; Okazaki, T.; Hori, T.-A.: Mapping of the human centromere protein B gene (CENPB) to chromosome 20p13 by fluorescence in situ hybridization. Genomics 24: 187-188, 1994.
[0019239]9827.Sugimoto, K.; Yata, H.; Himeno, M.: Mapping of the human CENP-B gene to chromosome 20 and the CENP-C gene to chromosome 12 by a rapid cycle DNA amplification procedure. Genomics 17: 240-242, 1993.
[0019240]9828.Rothstein, J. D.; Martin, L. J.; Kuncl, R. W.: Decreased glutamate transport by the brain and spinal cord in amyotrophic lateral sclerosis. New Eng. J. Med. 326: 1464-1468, 1992.
[0019241]9829.Gaynor, R. B.; Muchardt, C.; Xia, Y.; Klisak, I.; Mohandas, T.; Sparkes, R. S.; Lusis, A. J.: Localization of the gene for the DNA-binding protein AP-2 to human chromosome 6p22.3-pter. Genomics 10: 1100-1102, 1991.
[0019242]9830.Schorle, H.; Meier, P.; Buchert, M.; Jaenisch, R.; Mitchell, P. J.: Transcription factor AP-2 essential for cranial closure and craniofacial development. Nature 381: 235-238, 1996.
[0019243]9831.Warren, G.; Gordon, M.; Siracusa, L. D.; Buchberg, A. M.; Williams, T.: Physical and genetic localization of the gene encoding the AP-2 transcription factor to mouse chromosome 13. Genomics 31: 234-237, 1996.
[0019244]9832.Williams, T.; Admon, A.; Luscher, B.; Tjian, R.: Cloning and expression of AP-2, a cell-type-specific transcription factor that activates inducible enhancer elements. Genes Dev. 2: 1557-1569, 1988.
[0019245]9833.Williamson, J. A.; Bosher, J. M.; Skinner, A.; Sheer, D.; Williams, T.; Hurst, H. C.: Chromosomal mapping of the human and mouse homologues of two new members of the AP-2 family of transcription factors. Genomics 35: 262-264, 1996.
[0019246]9834.Zhang, J.; Hagopian-Donaldson, S.; Serbedzija, G.; Elsemore, J.; Plehn-Dujowich, D.; McMahon, A. P.; Flavell, R. A.; Williams, T.: Neural tube, skeletal and body wall defects in mice lacking transcription factor AP-2. Nature 381: 238-241, 1996.
[0019247]9835.McGrath, J. A.; Duijf, P. H. G.; Doetsch, V.; Irvine, A. D.; de Waal, R.; Vanmolkot, K. R. J.; Wessagowit, V.; Kelly, A.; Atherton, D. J.; Griffiths, W. A. D.; Orlow, S. J.; van Haeringen, A.; Ausems, M. G. E. M.; Yang, A.; McKeon, F.; Bamshad, M. A.; Brunner, H. G.; Hamel, B. C. J.; van Bokhoven, H.: Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. Hum. Molec. Genet. 10: 221-229, 2001.
[0019248]9836.Gotoh, T.; Araki, M.; Mori, M.: Chromosomal localization of the human arginase II gene and tissue distribution of its mRNA. Biochem. Biophys. Res. Commun. 233: 487-491, 1997.
[0019249]9837.Gotoh, T.; Sonoki, T.; Nagasaki, A.; Terada, K.; Takiguchi, M.; Mori, M.: Molecular cloning of cDNA for nonhepatic mitochondrial arginase (arginase II) and comparison of its induction with nitric oxide synthase in a murine macrophage-like cell line. FEBS Lett. 395: 119-122, 1996.
[0019250]9838.Iyer, R.; Jenkinson, C. P.; Vockley, J. G.; Kern, R. M.; Grody, W. W.; Cederbaum, S.: The human arginases and arginase deficiency. J. Inherit. Metab. Dis. 21 (suppl. 1): 86-100, 1998.
[0019251]9839.Morris, S. M., Jr.; Bhamidipati, D.; Kepka-Lenhart, D.: Human type II arginase: sequence analysis and tissue-specific expression. Gene 193: 157-161, 1997.
[0019252]9840.Spector, E. B.; Rice, S. C. H.; Cederbaum, S. D.: Evidence for two genes encoding human arginase. (Abstract) Am. J. Hum. Genet. 32: 55A only, 1980.
[0019253]9841.Spector, E. B.; Rice, S. C. H.; Cederbaum, S. D.: Immunologic studies of arginase in tissues of normal human adult and arginase-deficient patients. Pediat. Res. 17: 941-944, 1983.
[0019254]9842.Vockley, J. G.; Jenkinson, C. P.; Shukla, H.; Kern, R. M.; Grody, W. W.; Cederbaum, S. D.: Cloning and characterization of the human type II arginase gene. Genomics 38: 118-123, 1996.
[0019255]9843.Agarwal, V. R.; Ashanullah, C. I.; Simpson, E. R.; Bulun, S. E. : Alternatively spliced transcripts of the aromatase cytochrome P450 (CYP19) gene in adipose tissue of women. J. Clin. Endocr. Metab. 82: 70-74, 1997.
[0019256]9844.Nalabolu, S. R.; Shukla, H.; Nallur, G.; Parimoo, S.; Weissman, S. M.: Genes in a 220-kb region spanning the TNF cluster in human MHC. Genomics 31: 215-222, 1996.
[0019257]9845.DeChiara, T. M.; Kimble, R. B.; Poueymirou, W. T.; Rojas, J.; Masiakowski, P.; Valenzuela, D. M.; Yancopoulos, G. D.: Ror2, encoding a receptor-like tyrosine kinase, is required for cartilage and growth plate development. Nature Genet. 24: 271-274, 2000.
[0019258]9846.Oldridge, M.; Fortuna, A. M.; Maringa, M.; Propping, P.; Mansour, S.; Pollitt, C.; DeChiara, T. M.; Kimble, R. B.; Valenzuela, D. M.; Yancopoulos, G. D.; Wilkie, A. O. M.: Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B. Nature Genet. 24: 375-378, 2000.
[0019259]9847.De Windt, L. J.; Lim, H. W.; Bueno, O. F.; Liang, Q.; Delling, U.; Braz, J. C.; Glascock, B. J.; Kimball, T. F.; del Monte, F.; Hajjar, R. J.; Molkentin, J. D.: Targeted inhibition of calcineurin attenuates cardiac hypertrophy in vivo. Proc. Nat. Acad. Sci. 98: 3322-3327, 2001.
[0019260]9848.Fuentes, J. J.; Genesca, L.; Kingsbury, T. J.; Cunningham, K. W.; Perez-Riba, M.; Estivill, X.; de la Luna, S.: DSCR1, overexpressed in Down syndrome, is an inhibitor of calcineurinmediated signaling pathways. Hum. Molec. Genet. 9: 1681-1690, 2000.
[0019261]9849.Giri, P.; Higuchi, S.; Kincaid, R. L.: Chromosomal mapping of the human genes for the calmodulin-dependent protein phosphatase (calcineurin) catalytic subunit. Biochem. Biophys. Res. Commun. 181: 252-258, 1991.
[0019262]9850.Guerini, D.; Klee, C. B.: Cloning of human calcineurin A: evidence for two isozymes and identification of a polyproline structural domain. Proc. Nat. Acad. Sci. 86: 9183-9187, 1989.
[0019263]9851.Leinwand, L. A.: Calcineurin inhibition and cardiac hypertrophy: a matter of balance. Proc. Nat. Acad. Sci. 98: 2947-2949, 2001.
[0019264]9852.Malleret, G.; Haditsch, U.; Genoux, D.; Jones, M. W.; Bliss, T. V. P.; Vanhoose, A. M.; Weitlauf, C.; Kandel, E. R.; Winder, D. G.; Mansuy, I. M.: Inducible and reversible enhancement of learning, memory, and long-term potentiation by genetic inhibition of calcineurin. Cell 104: 675-686, 2001.
[0019265]9853.Mansuy, I. M.; Mayford, M.; Jacob, B.; Kandel, E. R.; Bach, M. E.: Restricted and regulated overexpression reveals calcineurin as a key component in the transition from short-term to longterm memory. Cell 92: 39-49, 1998.
[0019266]9854.Rothermel, B. A.; McKinsey, T. A.; Vega, R. B.; Nicol, R. L.; Mammen, P.; Yang, J.; Antos, C. L.; Shelton, J. M.; Bassel-Duby, R.; Olson, E. N.; Williams, R. S.: Myocyte-enriched calcineurin-interacting protein, MCIP1, inhibits cardiac hypertrophy in vivo. Proc. Nat. Acad. Sci. 98: 3328-3333, 2001.
[0019267]9855.Seitz, D. P.; Pasha, M. K.; Singh, B.; Chu, A.; Sharma, R. K. : Localization and characterization of calcineurin in bovine eye. Invest. Ophthal. Vis. Sci. 43: 15-21, 2002.
[0019268]9856.Wang, M. G.; Yi, H.; Guerini, D.; Klee, C. B.; McBride, O. W. : Calcineurin A alpha (PPP3CA), calcineurin A beta (PPP3CB) and calcineurin B (PPP3R1) are located on human chromosomes 4, 10q21-q22 and 2p16-p15 respectively. Cytogenet. Cell Genet. 72: 236-241, 1996.
[0019269]9857.Winder, D. G.; Mansuy, I. M.; Osman, M.; Moallem, T. M.; Kandel, E. R.: Genetic and pharmacological evidence for a novel, intermediate phase of long-term potentiation suppressed by calcineurin. Cell 92: 25-37, 1998.
[0019270]9858.Bueno, O. F.; Wilkins, B. J.; Tymitz, K. M.; Glascock, B. J.; Kimball, T. F.; Lorenz, J. N.; Molkentin, J. D.: Impaired cardiac hypertrophic response in calcineurin A-beta-deficient mice. Proc. Nat. Acad. Sci. 99: 4586-4591, 2002.
[0019271]9859.Guerini, D.; Krinks, M. H.; Sikela, J. M.; Hahn, W. E.; Klee, C. B.: Isolation and sequence of a cDNA clone for human calcineurin B, the Ca(2+)-binding subunit of the Ca(2+)/calmodulin-stimulated protein phosphatase. DNA 8: 675-682, 1989.
[0019272]9860.Wang, M. G.; Yi, H.; Guerini, D.; Klee, C. B.; McBride, O. W.: Calcineurin A alpha (PPP3CA), calcineurin A beta (PPP3CB) and calcineurin B (PPP3R1) are located on human chromosomes 4, 10q21-q22 and 2p16-p15 respectively. Cytogenet. Cell Genet. 72: 236-241, 1996.
[0019273]9861.Ferrari, S.; Calabretta, B.; deRiel, J. K.; Battini, R.; Ghezzo, F.; Lauret, E.; Griffin, C.; Emanuel, B. S.; Gurrieri, F.; Baserga, R.: Structural and functional analysis of a growth-regulated gene, the human calcyclin. J. Biol. Chem. 262: 8325-8332, 1987.
[0019274]9862.Alevizaki, M.; Stevenson, J. C.; Girgis, S. I.; MacIntyre, I.; Legon, S.: Altered calcitonin gene in a young patient with osteoporosis. Brit. Med. J. 298: 1215-1216, 1989.
[0019275]9863.Amara, S. G.; Jonas, V.; Rosenfeld, M. G.; Ong, E. S.; Evans, R. M.: Alternative RNA processing in calcitonin gene expression generates mRNAs encoding different polypeptide products. Nature 298: 240-244, 1982.
[0019276]9864.Aiyar, N.; Rand, K.; Elshourbagy, N. A.; Zeng, Z.; Adamou, J. E.; Bergsma, D. J.; Li, Y.: A cDNA encoding the calcitonin gene-related peptide type 1 receptor. J. Biol. Chem. 271: 11325-11329, 1996.
[0019277]9865.Fluhmann, B.; Muff, R.; Hunziker, W.; Fischer, J. A.; Born, W. : A human orphan calcitonin receptor-like structure. Biochem. Biophys. Res. Commun. 206: 341-347, 1995.
[0019278]9866.Foord, S. M.; Craig, R. K.: Isolation and characterisation of a human calcitonin-generelated-peptide receptor. Europ. J. Biochem. 170: 373-379, 1987.
[0019279]9867.Foord, S. M.; Marshall, F. H.: RAMPs: accessory proteins for seven transmembrane domain receptors. Trends Pharm. Sci. 20: 184-187, 1999.
[0019280]9868.Kamitani, S.; Asakawa, M.; Shimekake, Y.; Kuwasako, K.; Nakahara, K.; Sakata, T.: The RAMP2/CRLR complex is a functional adrenomedullin receptor in human endothelial and vascular smooth muscle cells. FEBS Lett. 448: 111-114, 1999.
[0019281]9869.Nakazawa, I.; Nakajima, T.; Harada, H.; Ishigami, T.; Umemura, S.; Emi, M.: Human calcitonin receptor-like receptor for adrenomedullin: genomic structure, eight single-nucleotide polymorphisms, and haplotype analysis. J. Hum. Genet. 46: 132-136, 2001.
[0019282]9870.Dolmetsch, R. E.; Pajvani, U.; Fife, K.; Spotts, J. M.; Greenberg, M. E.: Signaling to the nucleus by an L-type calcium channel-calmodulin complex through the MAP kinase pathway. Science 294: 333-339, 2001.
[0019283]9871.McAlpine, P. J.: Personal Communication. Winnipeg, Manitoba, Canada 2/14/1992.
[0019284]9872.Powers, P. A.; Gregg, R. G.; Hogan, K.: Linkage mapping of the human gene for the alpha-1 subunit of the cardiac DHP-sensitive Ca(2+) channel (CACNL1A1) to chromosome 12p13.2-pter using a dinucleotide repeat. Genomics 14: 206-207, 1992.
[0019285]9873.Powers, P. A.; Gregg, R. G.; Lalley, P. A.; Liao, M.; Hogan, K. : Assignment of the human gene for the alpha-1 subunit of the cardiac DHP-sensitive Ca(2+) channel (CCHL1A1) to chromosome 12p12-pter. Genomics 10: 835-839, 1991.
[0019286]9874.Sartor, H.; Ehlert, F.; Grzeschik, K.-H.; Muller, R.; Adolph, S. : Assignment of two human cell cycle genes, CDC25C and CCNB1, to 5q31 and 5q12, respectively. Genomics 13: 911-912, 1992.
[0019287]9875.Geng, Y.; Whoriskey, W.; Park, M. Y.; Bronson, R. T.; Medema, R. H.; Li, T.; Weinberg, R. A.; Sicinski, P.: Rescue of cyclin D1 deficiency by knockin cyclin E. Cell 97: 767-777, 1999.
[0019288]9876.Moberg, K. H.; Bell, D. W.; Wahrer, D. C. R.; Haber, D. A.; Hariharan, I. K.: Archipelago regulates cyclin E levels in Drosophila and is mutated in human cancer cell lines. Nature 413: 311-316, 2001.
[0019289]9877.Sheaff, R. J.; Groudine, M.; Gordon, M.; Roberts, J. M.; Clurman, B. E.: Cyclin ECDK2 is a regulator of p27(Kip1). Genes Dev. 11: 1464-1478, 1997.
[0019290]9878.Akoulitchev, S.; Chuikov, S.; Reinberg, D.: TFIIH is negatively regulated by cdk8-containing mediator complexes. Nature 407: 102-106, 2000.
[0019291]9879.Hanson, R. D.; Hohn, P. A.; Popescu, N. C.; Ley, T. J.: A cluster of hematopoietic serine protease genes is found on the same chromosomal band as the human alpha/delta T-cell receptor locus. Proc. Nat. Acad. Sci. 87: 960-963, 1990.
[0019292]9880.Harper, K.; Mattei, M.-G.; Simon, D.; Suzan, M.; Guenet, J.-L.; Haddad, P.; Sasportes, M.; Golstein, P.: Proximity of the CTLA-1 serine esterase and Tcr(alpha) loci in mouse and man. Immunogenetics 28: 439-444, 1988.
[0019293]9881.Klein, J. L.; Shows, T. B.; Dupont, B.; Trapani, J. A.: Genomic organization and chromosomal assignment for a serine protease gene (CSP-B), expressed by human cytotoxic lymphocytes. Genomics 5: 110-117, 1989.
[0019294]9882.Lin, C. C.; Meier, M.; Sorensen, O.; Sasi, R.; Tainaka, T.; Bleackley, R. C.: Chromosome localization of two human serine protease genes to region 14q11.2-q12 by in situ hybridization. Cytogenet. Cell Genet. 53: 169-171, 1990.
[0019295]9883.Motyka, B.; Korbutt, G.; Pinkoski, M. J.; Heibein, J. A.; Caputo, A.; Hobman, M.; Barry, M.; Shostak, I.; Sawchuk, T.; Holmes, C. F. B.; Gauldie, J.; Bleackley, R. C.: Mannose 6-phosphate/insulin-like growth factor II receptor is a death receptor for granzyme B during cytotoxic T cell-induced apoptosis. Cell 103: 491-500, 2000.
[0019296]9884.Miles, J. S.; Spurr, N. K.; Gough, A. C.; Jowett, T.; McLaren, A. W.; Brook, J. D.; Wolf, C. R.: A novel human cytochrome P450 gene (P450IIB): chromosomal localization and evidence for alternative splicing. Nucleic Acids Res. 16: 5783-5795, 1988.
[0019297]9885.Santisteban, I.; Povey, S.; Shephard, E. A.; Phillips, I. R.: The major phenobarbitalinducible cytochrome P-450 gene subfamily (P450IIB) mapped to the long arm of human chromosome 19. Ann. Hum. Genet. 52: 129-135, 1988.
[0019298]9886.Trask, B.; Fertitta, A.; Christensen, M.; Youngblom, J.; Bergmann, A.; Copeland, A.; de Jong, P.; Mohrenweiser, H.; Olsen, A.; Carrano, A.; Tynan, K.: Fluorescence in situ hybridization mapping of human chromosome 19: cytogenetic band location of 540 cosmids and 70 genes or DNA markers. Genomics 15: 133-145, 1993.
[0019299]9887.Barletta, C.; Batticane, N.; Ragusa, R. M.; Leube, R.; Peschle, C.; Romano, V.: Subchromosomal localization of two human cytokeratin genes (KRT4 and KRT15) by in situ hybridization. Cytogenet. Cell Genet. 54: 148-150, 1990.
[0019300]9888.Barletta, C.; Batticane, N.; Ragusa, R. M.; Leube, R. E.; Franke, W. W.; Peschle, C.; Romano, V.: Sub-chromosomal localization of human cytokeratin 4, 15, and 19 genes. (Abstract) Cytogenet. Cell Genet. 51: 958 only, 1989.
[0019301]9889.Fuchs, E.: Keratins as biochemical markers of epithelial differentiation. Trends Genet. 4: 277-281, 1988.
[0019302]9890.Mischke, D.; Wild, G.: Polymorphic keratins in human epidermis. J. Invest. Derm. 88: 191-197, 1987.
[0019303]9891.Mischke, D.; Wille, G.; Wild, A. G.: Allele frequencies and segregation of human polymorphic keratins K4 and K5. Am. J. Hum. Genet. 46: 548-552, 1990.
[0019304]9892.Romano, V.; Bosco, P.; Costa, G.; Leube, R.; Franke, W. W.; Rocchi, M.; Romeo, G.: Chromosomal assignment of cytokeratin genes. (Abstract) Cytogenet. Cell Genet. 46: 683 only, 1987.
[0019305]9893.Romano, V.; Bosco, P.; Rocchi, M.; Costa, G.; Leube, R. E.; Franke, W. W.; Romeo, G.: Chromosomal assignments of human type I and type II cytokeratin genes to different chromosomes. Cytogenet. Cell Genet. 48: 148-151, 1988.
[0019306]9894.Rugg, E. L.; McLean, W. H. I.; Allison, W. E.; Lunny, D. P.; Lane, E. B.; Macleod, R. I.; Felix, D. H.; Munro, C. S.: White sponge nevus (WSN) is caused by mutations in mucosal keratin K4. (Abstract) Am. J. Hum. Genet. 57: A47 only, 1995.
[0019307]9895.Rugg, E. L.; McLean, W. H. I.; Allison, W. E.; Lunny, D. P.; Macleod, R. I.; Felix, D. H.; Lane, E. B.; Munro, C. S.: A mutation in the mucosal keratin K4 is associated with oral white sponge nevus. Nature Genet. 11: 450-452, 1995.
[0019308]9896.Terrinoni, A.; Candi, E.; Oddi, S.; Gobello, T.; Camaione, D. B.; Mazzanti, C.; Zambruno, G.; Knight, R.; Melino, G.: A glutamine insertion in the 1A alpha helical domain of the keratin 4 gene in a familial case of white sponge nevus. J. Invest. Derm. 114: 388-391, 2000.
[0019309]9897.Schrijver, H. M.; Crusius, J. B. A.; Uitdehaag, B. M. J.; Garcia Gonzalez, M. A.; Kostense, P. J.; Polman, C. H.; Pena, A. S.: Association of interleukin-1-beta and interleukin-1 receptor antagonist genes with disease severity in MS. Neurology 52: 595-599, 1999.
[0019310]9898.Terasaki, P. I.; Park, M. S.; Opelz, G.; Ting, A.: Multiple sclerosis and high incidence of a B-lymphocyte antigen. Science 193: 1245-1247, 1976.
[0019311]9899.Reardon, W.; Wilkes, D.; Rutland, P.; Pulleyn, L. J.; Malcolm, S.; Dean, J. C. S.; Evans, R. D.; Jones, B. M.; Hayward, R.; Hall, C. M.; Nevin, N. C.; Baraitser, M.; Winter, R. M.: Craniosynostosis associated with FGFR3 pro250-to-arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis. J. Med. Genet. 34: 632-636, 1997.
[0019312]9900.Reddy, B. S. N.; Garg, B. R.; Padiyar, N. V.; Krishnaram, A. S. : An unusual association of acanthosis nigricans and Crouzon's disease: a case report. J. Derm. 12: 85-90, 1985.
[0019313]9901.Robin, N. H.; Scott, J. A.; Cohen, A. R.; Goldstein, J. A.: Nonpenetrance in FGFR3-associated coronal synostosis syndrome. (Letter) Am. J. Med. Genet. 80: 296-297, 1998.
[0019314]9902.Roscioli, T.; Flanagan, S.; Mortimore, R. J.; Kumar, P.; Weedon, D.; Masel, J.; Lewandowski, R.; Hyland, V.; Glass, I. A.: Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) resulting from a P250R missense mutation in the gene encoding fibroblast growth factor receptor 3. Am. J. Med. Genet. 101: 187-194, 2001.
[0019315]9903.Rousseau, F.; Bonaventure, J.; Legeai-Mallet, L.; Pelet, A.; Rozet, J.-M.; Maroteaux, P.; Le Merrer, M.; Munnich, A.: Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Nature 371: 252-254, 1994.
[0019316]9904.Rousseau, F.; El Ghouzzi, V.; Delezoide, A. L.; Legeai-Mallet, L.; Le Merrer, M.; Munnich, A.; Bonaventure, J.: Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1). Hum. Molec. Genet. 5: 509-512, 1996.
[0019317]9905.Rousseau, F.; Saugier, P.; Le Merrer, M.; Munnich, A.; Delezoide, A.-L.; Maroteaux, P.; Bonaventure, J.; Narcy, F.; Sanak, M.: Stop codon FGFR3 mutations in thanatophoric dwarfism type 1. Nature Genet. 10: 11-12, 1995.
[0019318]9906.Sawai, H.; Komori, S.; Ida, A.; Henmi, T.; Bessho, T.; Koyama, K.: Prenatal diagnosis of thanatophoric dysplasia by mutational analysis of the fibroblast growth factor receptor 3 gene and a proposed correction of previously published PCR results. Prenatal Diag. 19: 21-24, 1999.
[0019319]9907.Schweitzer, D. N.; Graham, J. M., Jr.; Lachman, R. S.; Jabs, E. W.; Okajima, K.; Przylepa, K. A.; Shanske, A.; Chen, K.; Neidich, J. A.; Wilcox, W. R.: Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an ala391-to-glu substitution in FGFR3. Am. J. Med. Genet. 98: 75-91, 2001.
[0019320]9908.Scotet, E.; Houssaint, E.: The choice between alternative IIIb and IIIc exons of the FGFR-3 gene is not strictly tissue-specific. Biochim. Biophys. Acta 1264: 238-242, 1995.
[0019321]9909.Shiang, R.; Thompson, L. M.; Zhu, Y.-Z.; Church, D. M.; Fielder, T. J.; Bocian, M.; Winokur, S. T.; Wasmuth, J. J.: Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell 78: 335-342, 1994.
[0019322]9910.Shimizu, A.; Tada, K.; Shukunami, C.; Hiraki, Y.; Kurokawa, T.; Magane, N.; Kurokawa-Seo, M.: A novel alternatively spliced fibroblast growth factor receptor 3 isoform lacking the acid box domain is expressed during chondrogenic differentiation of ATDC5 cells. J. Biol. Chem. 276: 11031-11040, 2001.
[0019323]9911.Shimizu, A.; Takashima, Y.; Kurokawa-Seo, M.: FGFR3 isoforms have distinct functions in the regulation of growth and cell morphology. Biochem. Biophys. Res. Commun. 290: 113-120, 2002.
[0019324]9912.Sibley, K.; Cuthbert-Heavens, D.; Knowles, M. A.: Loss of heterozygosity at 4p16.3 and mutation of FGFR3 in transitional cell carcinoma. Oncogene 20: 686-691, 2001.
[0019325]9913.Spranger, J.: Bone dysplasia families. Path. Immunopath. Res. 7: 76-80, 1988.
[0019326]9914.Su, W.-C. S.; Kitagawa, M.; Xue, N.; Xie, B.; Garofalo, S.; Cho, J.; Deng, C.; Horton, W. A.; Fu, X.-Y.: Activation of Stat1 by mutant fibroblast growth-factor receptor in thanatophoric dysplasia type II dwarfism. Nature 386: 288-292, 1997.
[0019327]9915.Superti-Furga, A.; Eich, G.; Bucher, H. U.; Wisser, J.; Giedion, A.; Gitzelmann, R.; Steinmann, B.: A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia. Europ. J. Pediat. 154: 215-219, 1995.
[0019328]9916.Superti-Furga, A.; Locher, M. L.; Steinlin, M.; Elch, G.; Huisman, T.; Steinmann, B.; Sailer, H. F.; Boltshauser, E.: Crouzon syndrome with acanthosis nigricans, spinal stenosis and desmo-osteoblastomas: pleiotropic effects of the FGFR-3 ala391glu mutation. J. Craniomaxillofac. Surg. (Suppl.) 24: 112 only, 1996.
[0019329]9917.Szabo, J.; Bellus, G. A.; Kaitila, I.; Francomano, C. A.: Fibroblast growth factor receptor 3 (FGFR3) mutations in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome. Am. J. Hum. Genet.(Abstract) 59 (suppl.): A287 only, 1996.
[0019330]9918.Tavormina, P. L.; Bellus, G. A.; Webster, M. K.; Bamshad, M. J.; Fraley, A. E.; McIntosh, I.; Szabo, J.; Jiang, W.; Jabs, E. W.; Wilcox, W. R.; Wasmuth, J. J.; Donoghue, D. J.; Thompson, L. M.; Francomano, C. A.: A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a lys650-to-met mutation in the fibroblast growth factor receptor 3 gene. Am. J. Hum. Genet. 64: 722-731, 1999.
[0019331]9919.Tavormina, P. L.; Rimoin, D. L.; Cohn, D. H.; Zhu, Y.-Z.; Shiang, R.; Wasmuth, J. J.: Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I. Hum. Molec. Genet. 4: 2175-2177, 1995.
[0019332]9920.Tavormina, P. L.; Shiang, R.; Thompson, L. M.; Zhu, Y.-Z.; Wilkin, D. J.; Lachman, R. S.; Wilcox, W. R.; Rimoin, D. L.; Cohn, D. H.; Wasmuth, J. J.: Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nature Genet. 9: 321-328, 1995.
[0019333]9921.Thompson, L. M.; Plummer, S.; Schalling, M.; Altherr, M. R.; Gusella, J. F.; Housman, D. E.; Wasmuth, J. J.: A gene encoding a fibroblast growth factor receptor isolated from the Huntington disease gene region of human chromosome 4. Genomics 11: 1133-1142, 1991.
[0019334]9922.Tsai, F.-J.; Tsai, C.-H.; Chang, J.-G.; Wu, J.-Y.: Mutations in the fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia, hypochondroplasia, and thanatophoric dysplasia: Taiwanese data. (Letter) Am. J. Med. Genet. 86: 300-301, 1999.
[0019335]9923.Tsai, F.-J.; Wu, J.-Y.; Tsai, C.-H.; Chang, J.-G.: Identification of a common N540K mutation in 8/18 Taiwanese hypochondroplasia patients: further evidence for genetic heterogeneity. (Letter) Clin. Genet. 55: 279-280, 1999.
[0019336]9924.von Gernet, S.; Schuffenhauer, S.; Golla, A.; Lichtner, P.; Balg, S.; Muhlbauer, W.; Murken, J.; Fairley, J.; Meitinger, T.: Craniosynostosis suggestive of Saethre-Chotzen syndrome: clinical description of a large kindred and exclusion of candidate regions on 7p. Am. J. Med. Genet. 63: 177-184, 1996.
[0019337]9925.Frydman, M.; Bonne-Tamir, B.; Farrer, L. A.; Conneally, P. M.; Magazanik, A.; Ashbel, S.; Goldwitch, Z.: Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus. Proc. Nat. Acad. Sci. 82: 1819-1821, 1985.
[0019338]9926.Scheuner, D.; Eckman, C.; Jensen, M.; Song, X.; Citron, M.; Suzuki, N.; Bird, T. D.; Hardy, J.; Hutton, M.; Kukull, W.; Larson, E.; Levy-Lahad, E.: Secreted amyloid beta-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease. Nature Med. 2: 864-870, 1996.
[0019339]9927.Sherrington, R.; Rogaev, E. I.; Liang, Y.; Rogaeva, E. A.; Levesque, G.; Ikeda, M.; Chi, H.; Lin, C.; Li, G.; Holman, K.; Tsuda, T.; Mar, L.; Foncin, J.-F.; Bruni, A. C.; Montesi, M. P.; Sorbi, S.; Rainero, I.; Pinessi, L.; Nee, L.; Chumakov, I.; Pollen, D.; Brookes, A.; Sanseau, P.; Polinsky, R. J.; Wasco, W.; Da Silva, H. A. R.; Haines, J. L.; Pericak-Vance, M. A.; Tanzi, R. E.; Roses, A. D.; Fraser, P. E.; Rommens, J. M.; St George-Hyslop, P. H.: Cloning of a gene bearing mis-sense mutations in earlyonset familial Alzheimer's disease. Nature 375: 754-760, 1995.
[0019340]9928.St. George-Hyslop, P.; Haines, J.; Rogaev, E.; Mortilla, M.; Vaula, G.; Pericak-Vance, M.; Foncin, J.-F.; Montesi, M.; Bruni, A.; Sorbi, S.; Rainero, I.; Pinessi, L.; Pollen, D.; Polinsky, R.; Nee, L.; Kennedy, J.; Macciardi, F.; Rogaeva, E.; Liang, Y.; Alexandrova, N.; Lukiw, W.; Schlumpf, K.; Tanzi, R.; Tsuda, T.; Farrer, L.; Cantu, J.-M.; Duara, R.; Amaducci, L.; Bergamini, L.; Gusella, J.; Roses, A.; Crapper McLachlan, D.: Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14. Nature Genet. 2: 330-334, 1992.
[0019341]9929.St. George-Hyslop, P. H.; Haines, J. L.; Farrer, L. A.; Polinsky, R.; Van Broeckhoven, C.; Goate, A.; Crapper McLachlan, D. R.; Orr, H.; Bruni, A. C.; Sorbi, S.; Rainero, I.; Foncin, J.-F.; Pollen, D.; Cantu, J. M.; Tupler, R.; Voskresenskaya, N.; Mayeux, R.; Growdon, J.; Fried, V. A.; Myers, R. H.; Nee, L.; Backhovens, H.; Martin, J. J.; Rossor, M.; Owen, M. J.; Mullan, M.; Percy, M. E.; Karlinsky, H.; Rich, S.; Heston, L.; Montesi, M.; Mortilla, M.; Nacmias, N.; Gusella, J. F.; Hardy, J. A.; other members of the FAD Collaborative Study Group: Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder. Nature 347: 194-197, 1990.
[0019342]9930.Moehlmann, T.; Winkler, E.; Xia, X.; Edbauer, D.; Murrell, J.; Capell, A.; Kaether, C.; Zheng, H.; Ghetti, B.; Haass, C.; Steiner, H.: Presenilin-1 mutations of leucine 166 equally affect the generation of the Notch and APP intracellular domains independent of their effect on A-beta(42) production. Proc. Nat. Acad. Sci. 99: 8025-8030, 2002.
[0019343]9931.Morelli, L.; Prat, M. I.; Levy, E.; Mangone, C. A.; Castano, E. M.: Presenilin 1 met146leu variant due to an A-T transversion in an early-onset familial Alzheimer's disease pedigree from Argentina. Clin. Genet. 53: 469-473, 1998.
[0019344]9932.Morgan, D.; Diamond, D. M.; Gottschall, P. E.; Ugen, K. E.; Dickey, C.; Hardy, J.; Duff, K.; Jantzen, P.; DiCarlo, G.; Wilcock, D.; Connor, K.; Hatcher, J.; Hope, C.; Gordon, M.; Arendash, G. W.: A-beta peptide vaccination prevents memory loss in an animal model of Alzheimer's disease. Nature 408: 982-985, 2000. Note: Erratum Nature 412: 660 only, 2001.
[0019345]9933.Mullan, M.; Houlden, H.; Windelspecht, M.; Fidani, L.; Lombardi, C.; Diaz, P.; Rossor, M.; Crook, R.; Hardy, J.; Duff, K.; Crawford, F.: A locus for familial early-onset Alzheimer's disease on the long arm of chromosome 14, proximal to the alpha-1-antichymotrypsin gene. Nature Genet. 2: 340-342, 1992.
[0019346]9934.Nechiporuk, A.; Fain, P.; Kort, E.; Nee, L. E.; Frommelt, E.; Polinsky, R. J.; Korenberg, J. R.; Pulst, S.-M.: Linkage of familial Alzheimer disease to chromosome 14 in two large early-onset pedigrees: effects of marker allele frequencies on lod scores. Am. J. Med. Genet. 48: 63-66, 1993.
[0019347]9935.Page, K.; Hollister, R.; Tanzi, R. E.; Hyman, B. T.: In situ hybridization analysis of presenilin 1 mRNA in Alzheimer disease and in lesioned rat brain. Proc. Nat. Acad. Sci. 93: 14020-14024, 1996.
[0019348]9936.Perez-Tur, J.; Froelich, S.; Prihar, G.; Crook, R.; Baker, M.; Duff, K.; Wragg, M.; Busfield, F.; Lendon, C.; Clark, R. F.; Roques, P.; Fuldner, R. A.; Johnston, J.; Cowburn, R.; Forsell, C.; Axelman, K.; Lilius, L.; Houlden, H.; Karran, E.; Roberts, G. W.; Rossor, M.; Adams, M. D.; Hardy, J.; Goate, A.; Lannfelt, L.; Hutton, M.: A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene. Neuroreport 7: 297-301, 1995.
[0019349]9937.Poorkaj, P.; Sharma, V.; Anderson, L.; Nemens, E.; Alonso, M. E.; Orr, H.; White, J.; Heston, L.; Bird, T. D.; Schellenberg, G. D.: Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene. Hum. Mutat. 11: 216-221, 1998.
[0019350]9938.Qian, S.; Jiang, P.; Guan, X.-M.; Singh, G.; Trumbauer, M. E.; Yu, H.; Chen, H. Y.; Van der Ploeg, L. H. T.; Zheng, H.: Mutant human presenilin 1 protects presenilin 1 null mouse against embryonic lethality and elevates A-beta-1-42/43 expression. Neuron 20: 611-617, 1998.
[0019351]9939.Raux, G.; Gantier, R.; Thomas-Anterion, C.; Boulliat, J.; Verpillat, P.; Hannequin, D.; Brice, A.; Frebourg, T.; Campion, D.: Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation. Neurology 55: 1577-1578, 2000.
[0019352]9940.Reznik-Wolf, H; Treves, T. A.; Davidson, M.; Aharon-Peretz, J.; St. George Hyslop, P. H.; Chapman, J.; Korczyn, A. D.; Goldman, B.; Friedman, E.: A novel mutation of presenilin 1 in familial Alzheimer's disease in Israel detected by denaturing gradient gel electrophoresis. Hum. Genet. 98: 700-702, 1996.
[0019353]9941.Rozen, R.; Barton, D.; Du, J.; Hum, D. W.; MacKenzie, R. E.; Francke, U.: Chromosomal localization of the gene for the human trifunctional enzyme, methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyltetrahydrofolate synthetase. Am. J. Hum. Genet. 44: 781-786, 1989.
[0019354]9942.Russo, C.; Schettini, G.; Saido, T. C.; Hulette, C.; Lippa, C.; Lannfelt, L.; Ghetti, B.; Gambetti, P.; Tabaton, M.; Teller, J. K. : Presenilin-1 mutations in Alzheimer's disease. Nature 405: 531-532, 2000.
[0019355]9943.Schellenberg, G. D.; Bird, T. D.; Wijsman, E. M.; Orr, H. T.; Anderson, L.; Nemens, E.; White, J. A.; Bonnycastle, L.; Weber, J. L.; Alonso, M. E.; Potter, H.; Heston, L. L.; Martin, G. M.: Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14. Science 258: 668-671, 1992.
[0019356]9944.Rogaev, E. I.; Sherrington, R.; Wu, C.; Levesque, G.; Liang, Y.; Rogaeva, E. A.; Ikeda, M.; Holman, K.; Lin, C.; Lukiw, W. J.; de Jong, P. J.; Fraser, P. E.; Rommens, J. M.; St. George-Hyslop, P.: Analysis of the 5-prime sequence, genomic structure, and alternative splicing of the presenilin-1 gene (PSEN1) associated with early onset Alzheimer disease. Genomics 40: 415-424, 1997.
[0019357]9945.Schellenberg, G. D.; Boehnke, M.; Wijsman, E. M.; Moore, D. K.; Martin, G. M.; Bird, T. D.: Genetic association and linkage analysis of the apolipoprotein CII locus and familial Alzheimer's disease. Ann. Neurol. 31: 223-227, 1992.
[0019358]9946.Schellenberg, G. D.; Payami, H.; Wijsman, E. M.; Orr, H. T.; Goddard, K. A. B.; Anderson, L.; Nemens, E.; White, J. A.; Alonso, M. E.; Ball, M. J.; Kaye, J.; Morris, J. C.; Chui, H.; Sadovnick, A. D.; Heston, L. L.; Martin, G. M.; Bird, T. D.: Chromosome 14 and late-onset familial Alzheimer disease (FAD). Am. J. Hum. Genet. 53: 619-628, 1993.
[0019359]9947.Shen, J.; Bronson, R. T.; Chen, D. F.; Xia, W.; Selkoe, D. J.; Tonegawa, S.: Skeletal and CNS defects in presenilin-1-deficient mice. Cell 89: 629-639, 1997.
[0019360]9948.Smith, M. J.; Kwok, J. B. J.; McLean, C. A.; Kril, J. J.; Broe, G. A.; Nicholson, G. A.; Cappai, R.; Hallupp, M.; Cotton, R. G. H.; Masters, C. L.; Schofield, P. R.; Brooks, W. S.: Variable phenotype of Alzheimer's disease with spastic paraparesis. Ann. Neurol. 49: 125-129, 2001.
[0019361]9949.Sorbi, S.; Nacmias, B.; Forleo, P.; Piacentini, S.; Sherrington, R.; Rogaev, E.; St George Hyslop, P.; Amaducci, L.: Missense mutation of S182 gene in Italian families with early-onset Alzheimer's disease. (Letter) Lancet 346: 439-440, 1995.
[0019362]9950.St. George-Hyslop, P. H.; Levesque, G.; Levesque, L.; Rommens, J.; Westaway, D.; Fraser, P. E.: Two homologous genes causing early-onset familial Alzheimer's disease. Cold Spring Harbor Symp. Quant. Biol. 61: 559-564, 1996.
[0019363]9951.Shitoh, K.; Konishi, F.; Iijima, T.; Ohdaira, T.; Sakai, K.; Kanazawa, K.; Miyaki, M.: A novel case of a sporadic desmoid tumour with mutation of the beta catenin gene. J. Clin. Path. 52: 695-696, 1999.
[0019364]9952.Hart, T. C.; Zhang, Y.; Gorry, M. C.; Hart, P. S.; Cooper, M.; Marazita, M. L.; Marks, J. M.; Cortelli, J. R.; Pallos, D.: A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1. Am. J. Hum. Genet. 70: 943-954, 2002.
[0019365]9953.Chernova, O. B.; Somerville, R. P. T.; Cowell, J. K.: A novel gene, LGI1, from 10q24 is rearranged and downregulated in malignant brain tumors. Oncogene 17: 2873-2881, 1998.
[0019366]9954.Hamilton, S. R.; Liu, B.; Parsons, R. E.; Papadopoulos, N.; Jen, J.; Powell, S. M.; Krush, A. J.; Berk, T.; Cohen, Z.; Tetu, B.; Burger, P. C.; Wood, P. A.; Taqi, F.; Booker, S. V.; Petersen, G. M.; Offerhaus, G. J. A.; Tersmette, A. C.; Giardiello, F. M.; Vogelstein, B.; Kinzler, K. W.: The molecular basis of Turcot's syndrome. New Eng. J. Med. 332: 839-847, 1995.
[0019367]9955.Holland, E. C.; Celestino, J.; Dai, C.; Schaefer, L.; Sawaya, R. E.; Fuller, G. N.: Combined activation of Ras and Akt in neural progenitors induces glioblastoma formation in mice. Nature Genet. 25: 55-57, 2000.
[0019368]9956.Efstratiadis, A.; Posakony, J. W.; Maniatis, T.; Lawn, R. M.; O'Connell, C.; Spritz, R. A.; DeRiel, J. K.; Forget, B. G.; Weissman, S. M.; Slightom, J. L.; Blechl, A. E.; Smithies, O.; Baralle, F. E.; Shoulders, C. C.; Proudfoot, N. J.: The structure and evolution of the human beta-globin gene family. Cell 21: 653-668, 1980.
[0019369]9957.Jin, Y.; Dietz, H. C.; Montgomery, R. A.; Bell, W. R.; McIntosh, I.; Coller, B.; Bray, P. F.: Glanzmann thrombasthenia: cooperation between sequence variants in Cis during splice site selection. J. Clin. Invest. 98: 1745-1754, 1996.
[0019370]9958.Levine, M. A.; Modi, W. S.; O'Brien, S. J.: Chromosomal localization of the genes encoding two forms of the G-protein beta polypeptide, beta-1 and beta-3, in man. Genomics 8: 380-386, 1990.
[0019371]9959.Stallings-Mann, M. L.; Ludwiczak, R. L.; Klinger, K. W.; Rottman, F.: Alternative splicing of exon 3 of the human growth hormone receptor is the result of an unusual genetic polymorphism. Proc. Nat. Acad. Sci. 93: 12394-12399, 1996.
[0019372]9960.Friedman, E.; Gejman, P. V.; Martin, G. A.; McCormick, F.: Nonsense mutations in the C-terminal SH2 region of the GTPase activating protein (GAP) gene in human tumours. Nature Genet. 5: 242-247, 1993.
[0019373]9961.Hsieh, C. L.; Francke, U.: The gene for GTPase activating protein (GAP) is on human chromosome 5q and mouse chromosome 13. (Abstract) Cytogenet. Cell Genet. 51: 1016 only, 1989.
[0019374]9962.Hsieh, C. L.; Vogel, U. S.; Dixon, R. A.; Francke, U.: Chromosome localization and cDNA sequence of murine and human genes for ras p21 GTPase activating protein (GAP). Somat. Cell Molec. Genet. 15: 579-590, 1989.
[0019375]9963.Lemons, R. S.; Espinosa, R., III; Rebentisch, M.; McCormick, F.; Ladner, M.; Le Beau, M. M.: Chromosomal localization of the gene encoding GTPase-activating protein (RASA) to human chromosome 5, bands q13-q15. Genomics 6: 383-385, 1990.
[0019376]9964.Mitsudomi, T.; Friedman, E.; Gejman, P. V.; McCormick, F.; Gazdar, A. F.: Genetic analysis of the catalytic domain of the GAP gene in human lung cancer cell lines. Hum. Genet. 93: 27-31, 1994.
[0019377]9965.Trahey, M.; Wong, G.; Halenbeck, R.; Rubinfeld, B.; Martin, G. A.; Ladner, M.; Long, C. M.; Crosier, W. J.; Watt, K.; Koths, K.; McCormick, F.: Molecular cloning of two types of GAP complementary DNA from human placenta. Science 242: 1697-1700, 1988.
[0019378]9966.Blatt, C.; Eversole-Cire, P.; Cohn, V. H.; Zollman, S.; Fournier, R. E. K.; Mohandas, L. T.; Nesbitt, M.; Lugo, T.; Jones, D. T.; Reed, R. R.; Weiner, L. P.; Sparkes, R. S.; Simon, M. I.: Chromosomal localization of genes encoding guanine nucleotide-binding protein subunits in mouse and human. Proc. Nat. Acad. Sci. 85: 7642-7646, 1988.
[0019379]9967.Allen, B.; Ostrer, H.; Stein, J.; Stein, G.: Histone gene clusters map to chromosomes 1 and 6. (Abstract) Cytogenet. Cell Genet. 51: 950 only, 1989.
[0019380]9968.Carozzi, N.; Marashi, F.; Plumb, M.; Zimmerman, S.; Zimmerman, A.; Coles, L. S.; Wells, J. R. E.; Stein, G.; Stein, J.: Clustering of human H1 and core histone genes. Science 224: 1115-1117, 1984.
[0019381]9969.Chandler, M. E.; Kedes, L. H.; Cohn, R. H.; Yunis, J. J.: Genes coding for histone proteins in man are located on the distal end of chromosome 7. Science 205: 908-910, 1979.
[0019382]9970.Clark, S. J.; Krieg, P. A.; Wells, J. R. E.: Isolation of a clone containing human histone genes. Nucleic Acids Res. 9: 1583-1597, 1981.
[0019383]9971.Delange, R. J.; Smith, E. L.: Histones: structure and function. Ann. Rev. Biochem. 40: 279-314, 1971.
[0019384]9972.Felsenfeld, G.: Chromatin as an essential part of the transcriptional mechanism. Nature 355: 219-224, 1992.
[0019385]9973.Green, L.; Van Antwerpen, R.; Stein, J.; Stein, G.; Tripputi, P.; Emanuel, B.; Selden, J.; Croce, C.: A major human histone gene cluster on the long arm of chromosome 1. Science 226: 838-840, 1984.
[0019386]9974.Heintz, N.; Zernik, M.; Roeder, R. G.: The structure of the human histone genes: clustered but not tandemly repeated. Cell 24: 661-668, 1981.
[0019387]9975.Hentschel, C. C.; Birnstiel, M. L.: The organization and expression of histone gene families. Cell 25: 301-313, 1981.
[0019388]9976.Kedes, L.; Maxson, R.: Histone gene organization: paradigm lost. Nature 294: 11-12, 1981.
[0019389]9977.Lichtler, A. C.; Sierra, F.; Clark, S.; Wells, J. R. E.; Stein, J. L.; Stein, G. S.: Multiple H4 histone mRNAs of HeLa cells are encoded in different genes. Nature 298: 195-198, 1982.
[0019390]9978.McAlpine, P. J.: Personal Communication. Winnipeg, Manitoba, Canada 1989.
[0019391]9979.Sierra, F.; Lichtler, A.; Marashi, F.; Rickles, R.; Van Dyke, T.; Clark, S.; Wells, J.; Stein, G.; Stein, J.: Organization of human histone genes. Proc. Nat. Acad. Sci. 79: 1795-1799, 1982.
[0019392]9980.Steffensen, D. M.: Human histone genes mapped to chromosome 7. (Abstract) Cytogenet. Cell Genet. 25: 211 only, 1979.
[0019393]9981.Szabo, P.; Yu, L. C.; Borun, T.; Varicchio, F.; Siniscalco, M.; Prensky, W.: Localization of the histone genes in man. Cytogenet. Cell Genet. 22: 359-363, 1978.
[0019394]9982.Tripputi, P.; Emanuel, B. S.; Croce, C. M.; Green, L. G.; Stein, G. S.; Stein, J. L.: Human histone genes map to multiple chromosomes. Proc. Nat. Acad. Sci. 83: 3185-3188, 1986.
[0019395]9983.Yunis, J. J.; Chandler, M. E.: Localization of histone genes to bands 7q32-36 in man and the homologous chromosome segments in chimpanzee, gorilla, and orangutan. (Abstract) Cytogenet. Cell Genet. 25: 220 only, 1979.
[0019396]9984.Doyle, J.; Hoffman, S.; Ucla, C.; Reith, W.; Mach, B.; Stubbs, L.: Locations of human and mouse genes encoding the RFX1 and RFX2 transcription factor proteins. Genomics 35: 227-230, 1996.
[0019397]9985.Pugliatti, L.; Derre, J.; Berger, R.; Ucla, C.; Reith, W.; Mach, B.: The genes for MHC class II regulatory factors RFX1 and RFX2 are located on the short arm of chromosome 19. Genomics 13: 1307-1310, 1992.
[0019398]9986.Reith, W.; Ucla, C.; Barras, E.; Gaud, A.; Durand, B.; Herrero-Sanchez, C.; Kobr, M.; Mach, B.: RFX1, a transactivator of hepatitis B virus enhancer I, belongs to a novel family of homodimeric and heterodimeric DNA-binding proteins. Molec. Cell. Biol. 14: 1230-1244, 1994.
[0019399]9987.Claesson, L.; Larhammar, D.; Rask, L.; Peterson, P. A.: cDNA clone for the human invariant gamma chain of class II histocompatibility antigens and its implications for the protein structure. Proc. Nat. Acad. Sci. 80: 7395-7399, 1983.
[0019400]9988.Claesson-Welsh, L.; Barker, P. E.; Larhammar, D.; Rask, L.; Ruddle, F. H.; Peterson, P. A.: The gene encoding the human class II antigen-associated gamma chain is located on chromosome 5. Immunogenetics 20: 89-93, 1984.
[0019401]9989.Driessen, C.; Bryant, R. A.; Lennon-Dumenil, A. M.; Villadangos, J. A.; Bryant, P. W.; Shi, G. P.; Chapman, H. A.; Ploegh, H. L.: Cathepsin S controls the trafficking and maturation of MHC class II molecules in dendritic cells. J. Cell Biol. 147: 775-790, 1999.
[0019402]9990.Genuardi, M.; Saunders, G. F.: Localization of the HLA class II-associated invariant chain gene to human chromosome band 5q32. Immunogenetics 28: 53-56, 1988.
[0019403]9991.Ferdinandusse, S.; Denis, S.; Clayton, P. T.; Graham, A.; Rees, J. E.; Allen, J. T.; McLean, B. N.; Brown, A. Y.; Vreken, P.; Waterham, H. R.; Wanders, R. J. A.: Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy. Nature Genet. 24: 188-191, 2000.
[0019404]9992.Bathori, G.; Parolini, I.; Tombola, F.; Szabo, I.; Messina, A.; Oliva, M.; De Pinto, V.; Lisanti, M.; Sargiacomo, M.; Zoratti, M. : Porin is present in the plasma membrane where it is concentrated in caveolae and caveolae-related domains. J. Biol. Chem. 274: 29607-29612, 1999.
[0019405]9993.Huizing, M.; Ruitenbeek, W.; Thinnes, F. P.; DePinto, V.; Wendel, U.; Trijbels, F. J. M.; Smit, L. M. E.; Ter Laak, H. J.; Van Den Heuvel, L. P.: Deficiency of the voltage-dependent anion channel: a novel cause of mitochondriopathy. Pediat. Res. 39: 760-765, 1996.
[0019406]9994.Cornish, A. L.; Freeman, S.; Forbes, G.; Ni, J.; Zhang, M.; Cepeda, M.; Gentz, R.; Augustus, M.; Carter, K. C.; Crocker, P. R.: Characterization of siglec-5, a novel glycoprotein expressed on myeloid cells related to CD33. Blood 92: 2123-2132, 1998.
[0019407]9995.Kim, H.-S.: Assignment of the human OB binding protein-2 gene (CD33L2) to chromosome 19q13.3 by radiation hybrid mapping. Cytogenet. Cell Genet. 84: 96 only, 1999.
[0019408]9996.Patel, N.; Brinkman-Van der Linden, E. C. M.; Altmann, S. W.; Gish, K.; Balasubramanian, S.; Timans, J. C.; Peterson, D.; Bell, M. P.; Bazan, J. F.; Varki, A.; Kastelein, R. A.: OB-BP1/Siglec-6: a leptin- and sialic acid-binding protein of the immunoglobulin superfamily. J. Biol. Chem. 274: 22729-22738, 1999.
[0019409]9997.Creutz, C. E.; Tomsig, J. L.; Snyder, S. L.; Gautier, M.-C.; Skouri, F.; Beisson, J.; Cohen, J.: The copines, a novel class of C2 domain-containing, calcium-dependent, phospholipid-binding proteins conserved from Paramecium to humans. J. Biol. Chem. 273: 1393-1402, 1998.
[0019410]9998.Caudell, E. G.; Caudell, J. J.; Tang, C.-H.; Yu, T.-K.; Frederick, M. J.; Grimm, E. A.: Characterization of human copine III as a phosphoprotein with associated kinase activity. Biochemistry 39: 13034-13043, 2000.
[0019411]9999.Ito, M.; Yuan, C.-X.; Okano, H. J.; Darnell, R. B.; Roeder, R. G.: Involvement of the TRAP220 component of the TRAP/SMCC coactivator complex in embryonic development and thyroid hormone action. Molec. Cell 5: 683-693, 2000.
[0019412]10000.Yuan, C.-X.; Ito, M.; Fondell, J. D.; Fu, Z.-Y.; Roeder, R. G. : The TRAP220 component of a thyroid hormone receptor-associated protein (TRAP) coactivator complex interacts directly with nuclear receptors in a ligand-dependent fashion. Proc. Nat. Acad. Sci. 95: 7939-7944, 1998. Note: Erratum: Proc. Nat. Acad. Sci. 95: 14584 only, 1998.
[0019413]10001.Zhu, Y.; Qi, C.; Jain, S.; Le Beau, M. M.; Espinosa, R., III; Atkins, G. B.; Lazar, M. A.; Yeldandi, A. V.; Rao, M. S.; Reddy, J. K.: Amplification and overexpression of peroxisome proliferator-activated receptor binding protein (PBP/PPARBP) gene in breast cancer. Proc. Nat. Acad. Sci. 96: 10848-10853, 1999.
[0019414]10002.Zhu, Y.; Qi, C.; Jain, S.; Rao, M. S.; Reddy, J. K.: Isolation and characterization of PBP, a protein that interacts with peroxisome proliferator-activated receptor. J. Biol. Chem. 272: 25500-25506, 1997.
[0019415]10003.Kadereit, S.; Gewert, D. R.; Galabru, J.; Hovanessian, A. G.; Meurs, E. F.: Molecular cloning of two new interferon-induced, highly related nuclear phosphoproteins. J. Biol. Chem. 268: 24432-24441, 1993.
[0019416]10004.Welsh, G. I.; Kadereit, S.; Coccia, E. M.; Hovanessian, A. G.; Meurs, E. F.: Colocalization within the nucleolus of two highly related IFN-induced human nuclear phosphoproteins with nucleolin. Exp. Cell Res. 250: 62-74, 1999.
[0019417]10005.Pohl, U.; Smith, J. S.; Tachibana, I.; Ueki, K.; Lee, H. K.; Ramaswamy, S.; Wu, Q.; Mohrenweiser, H. W.; Jenkins, R. B.; Louis, D. N.: EHD2, EHD3, and EHD4 encode novel members of a highly conserved family of EH domain-containing proteins. Genomics 63: 255-262, 2000.
[0019418]10006.Schweizer, A.; Valdenaire, O.; Koster, A.; Lang, Y.; Schmitt, G.; Lenz, B.; Bluethmann, H.; Rohrer, J.: Neonatal lethality in mice deficient in XCE, a novel member of the endothelin-converting enzyme and neutral endopeptidase family. J. Biol. Chem. 274: 20450-20456, 1999.
[0019419]10007.Valdenaire, O.; Richards, J. G.; Faull, R. L. M.; Schweizer, A. : XCE, a new member of the endothelin-converting enzyme and neutral endopeptidase family, is preferentially expressed in the CNS. Molec. Brain Res. 64: 211-221, 1999.
[0019420]10008.Valdenaire, O.; Rohrbacher, E.; Langeveld, A.; Schweizer, A.; Meijers, C.: Organization and chromosomal localization of the human ECEL1 (XCE) gene encoding a zinc metallopeptidase involved in the nervous control of respiration. Biochem. J. 346: 611-616, 2000.
[0019421]10009.Hengst, U.; Albrecht, H.; Hess, D.; Monard, D.: The phosphatidylethanolaminebinding protein is the prototype of a novel family of serine protease inhibitors. J. Biol. Chem. 276: 535-540, 2001.
[0019422]10010.Hori, N.; Chae, K.; Murakawa, K.; Matoba, R.; Fukushima, A.; Okubo, K.; Matsubara, K.: A human cDNA sequence homologue of bovine phosphatidylethanolamine-binding protein. Gene 140: 293-294, 1994.
[0019423]10011.Moore, C.; Perry, A. C. F.; Love, S.; Hall, L.: Sequence analysis and immunolocalisation of phosphatidylethanolamine binding protein (PBP) in human brain tissue. Molec. Brain Res. 37: 74-78, 1996.
[0019424]10012.Schoentgen, F.; Jolles, P.: From structure to function: possible biological roles of a new widespread protein family binding hydrophobic ligands and displaying a nucleotide binding site. FEBS Lett. 369: 22-26, 1995.
[0019425]10013.Seddiqi, N.; Bollengier, F.; Alliel, P. M.; Perin, J.-P.; Bonnet, F.; Bucquoy, S.; Jolles, P.; Schoentgen, F.: Amino acid sequence of the Homo sapiens brain 21-23-kDa protein (neuropolypeptide h3), comparison with its counterparts from Rattus norvegicus and Bos tauras species, and expression of its mRNA in different tissues. J. Molec. Evol. 39: 655-660, 1994.
[0019426]10014.Tohdoh, N.; Tojo, S.; Agui, H.; Ojika, K.: Sequence homology of rat and human HCNP precursor proteins, bovine phosphatidylethanolamine-binding protein and rat 23-kDa protein associated with the opioid-binding protein. Molec. Brain Res. 30: 381-384, 1995.
[0019427]10015.Yeung, K.; Seitz, T.; Li, S.; Janosch, P.; McFerran, B.; Kaiser, C.; Fee, F.; Katsanakis, K. D.; Rose, D. W.; Mischak, H.; Sedivy, J. M.; Kolch, W.: Suppression of Raf-1 kinase activity and MAP kinase signalling by RKIP. Nature 401: 173-177, 1999.
[0019428]10016.Heinemann, T.; Bulwin, G. C.; Randall, J.; Schnieders, B.; Sandhoff, K.; Volk, H. D.; Milford, E.; Gullans, S. R.; Utku, N.: Genomic organization of the gene coding for TIRC7, a novel membrane protein essential for T cell activation. Genomics 57: 398-406, 1999.
[0019429]10017.Li, Y.-P.; Chen, W.; Liang, Y.; Li, E.; Stashenko, P.: ATP6i-deficient mice exhibit severe osteopetrosis due to loss of osteoclast-mediated extracellular acidification. Nature Genet. 23: 447-451, 1999.
[0019430]10018.Li, Y.-P.; Chen, W.; Stashenko, P.: Molecular cloning and characterization of a putative novel human osteoclast-specific 116-kDa vacuolar proton pump subunit. Biochem. Biophys. Res. Commun. 218: 813-821, 1996.
[0019431]10019.Scimeca, J.-C.; Franchi, A.; Trojani, C.; Parrinello, H.; Grosgeorge, J.; Robert, C.; Jaillon, O.; Poirier, C.; Gaudray, P.; Carle, G. F. : The gene encoding the mouse homologue of the human osteoclast-specific 116-kDa V-ATPase subunit bears a deletion in osteosclerotic (oc/oc) mutants. Bone 26: 207-213, 2000.
[0019432]10020.Sobacchi, C.; Frattini, A.; Orchard, P.; Porras, O.; Tezcan, I.; Andolina, M.; Babul-Hirji, R.; Baric, I.; Canham, N.; Chitayat, D.; Dupuis-Girod, S.; Ellis, I.; and 21 others: The mutational spectrum of human malignant autosomal recessive osteopetrosis. Hum. Molec. Genet. 10: 1767-1773, 2001.
[0019433]10021.Utku, N.; Heinemann, T.; Tullius, S. G.; Bulwin, G. C.; Beinke, S.; Blumberg, R. S.; Beato, F.; Randall, J.; Kojima, R.; Busconi, L.; Robertson, E. S.; Schulein, R.; Volk, H. D.; Milford, E. L.; Gullans, S. R.: Prevention of acute allograft rejection by antibody targeting of TIRC7, a novel T cell membrane protein. Immunity 9: 509-518, 1998.
[0019434]10022.Blum, R.; Feick, P.; Puype, M.; Vandekerckhove, J.; Klengel, R.; Nastainczyk, W.; Schulz, I.: Tmp21 and p24A, two type I proteins enriched in pancreatic microsomal membranes, are members of a protein family involved in vesicular trafficking. J. Biol. Chem. 271: 17183-17189, 1996.
[0019435]10023.Horer, J.; Blum, R.; Feick, P.; Nastainczyk, W.; Schulz, I.: A comparative study of rat and human Tmp21 (p23) reveals the pseudogene-like features of human Tmp21-II. DNA Seq. 10: 121-126, 1999.
[0019436]10024.Sherrington, R.; Rogaev, E. I.; Liang, Y.; Rogaeva, E. A.; Levesque, G.; Ikeda, M.; Chi, H.; Lin, C.; Li, G.; Holman, K.; Tsuda, T.; Mar, L.; Foncin, J.-F.; Bruni, A. C.; Montesi, M. P.; Sorbi, S.; Rainero, I.; Pinessi, L.; Nee, L.; Chumakov, I.; Pollen, D.; Brookes, A.; Sanseau, P.; Polinsky, R. J.; Wasco, W.; Da Silva, H. A. R.; Haines, J. L.; Pericak-Vance, M. A.; Tanzi, R. E.; Roses, A. D.; Fraser, P. E.; Rommens, J. M.; St George-Hyslop, P. H.: Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature 375: 754-760, 1995.
[0019437]10025.Postma, A. V.; Bezzina, C. R.; de Vries, J. F.; Wilde, A. A. M.; Moorman, A. F. M.; Mannens, M. M. A. M.: Genomic organisation and chromosomal localisation of two members of the KCND ion channel family, KCND2 and KCND3. Hum. Genet. 106: 614-619, 2000.
[0019438]10026.Zhu, X.-R.; Wulf, A.; Schwarz, M.; Isbrandt, D.; Pongs, O.: Characterization of human Kv4.2 mediating a rapidly-inactivating transient voltage-sensitive K+ current. Receptors Channels 6: 387-400, 1999.
[0019439]10027.Wong, A. C. C.; Shkolny, D.; Dorman, A.; Willingham, D.; Roe, B. A.; McDermid, H. E.: Two novel human RAB genes with near identical sequence each map to a telomere-associated region: the subtelomeric region of 22q13.3 and the ancestral telomere band 2q13. Genomics 59: 326-334, 1999.
[0019440]10028.Harada, H.; Nagai, H.; Tsuneizumi, M.; Mikami, I.; Sugano, S.; Emi, M.: Identification of DMC1, a novel gene in the TOC region on 17q25.1 that shows loss of expression in multiple human cancers. J. Hum. Genet. 46: 90-95, 2001.
[0019441]10029.van den Eynde, B. J.; Gaugler, B.; Probst-Kepper, M.; Michaux, L.; Devuyst, O.; Lorge, F.; Weynants, P.; Boon, T.: A new antigen recognized by cytolytic T lymphocytes on a human kidney tumor results from reverse strand transcription. J. Exp. Med. 190: 1793-1799, 1999.
[0019442]10030.Kile, B. T.; Viney, E. M.; Willson, T. A.; Brodnicki, T. C.; Cancilla, M. R.; Herlihy, A. S.; Croker, B. A.; Baca, M.; Nicola, N. A.; Hilton, D. J.; Alexander, W. S.: Cloning and characterization of the genes encoding the ankyrin repeat and SOCS box-containing proteins Asb-1, Asb-2, Asb-3, and Asb-4. Gene 258: 31-41, 2000.
[0019443]10031.Liu, Y.; Corcoran, M.; Rasool, O.; Ivanova, G.; Ibbotson, R.; Grander, D.; Iyengar, A.; Baranova, A.; Kashuba, V.; Merup, M.; Wu, X.; Gardiner, A.; and 12 others: Cloning of two candidate tumor suppressor genes within a 10 kb region on chromosome 13q14, frequently deleted in chronic lymphocytic leukemia. Oncogene 15: 2463-2473, 1997.
[0019444]10032.Pappu, R.; Cheng, A. M.; Li, B.; Gong, Q.; Chiu, C.; Griffin, N.; White, M.; Sleckman, B. P.; Chan, A. C.: Requirement for B cell linker protein (BLNK) in B cell development. Science 286: 1949-1954, 1999.
[0019445]10033.Wienands, J.; Schweikert, J.; Wollscheid, B.; Jumaa, H.; Nielsen, P. J.; Reth, M.: SLP-65: a new signaling component in B lymphocytes which requires expression of the antigen receptor for phosphorylation. J. Exp. Med. 188: 791-795, 1998.
[0019446]10034.Agarwal, A. K.; Garg, A.: A novel heterozygous mutation in peroxisome proliferatoractivated receptor-gamma gene in a patient with familial partial lipodystrophy. J. Clin. Endocr. Metab. 87: 408-411, 2002.
[0019447]10035.Cosman, D.; Fanger, N.; Borges, L.; Kubin, M.; Chin, W.; Peterson, L.; Hsu, M.-L.: A novel immunoglobulin superfamily receptor for cellular and viral MHC class I molecules. Immunity 7: 273-282, 1997.
[0019448]10036.Muto, T.; Muramatsu, M.; Taniwaki, M.; Kinoshita, K.; Honjo, T. : Isolation, tissue distribution, and chromosomal localization of the human activation-induced cytidine deaminase (AID) gene. Genomics 68: 85-88, 2000.
[0019449]10037.Geck, P.; Maffini, M. V.; Szelei, J.; Sonnenschein, C.; Soto, A. M.: Androgen-induced proliferative quiescence in prostate cancer cells: the role of AS3 as its mediator. Proc. Nat. Acad. Sci. 97: 10185-10190, 2000.
[0019450]10038.Kas, K.; Finger, E.; Grall, F.; Gu, X.; Akbarali, Y.; Boltax, J.; Weiss, A.; Oettgen, P.; Kapeller, R.; Libermann, T. A.: ESE-3, a novel member of an epithelium-specific Ets transcription factor subfamily, demonstrates different target gene specificity from ESE-1. J. Biol. Chem. 275: 2986-2998, 2000.
[0019451]10039.Kleinbaum, L. A.; Duggan, C.; Ferreira, E.; Coffey, G. P.; Buttice, G.; Burton, F. H.: Human chromosomal localization, tissue/tumor expression, and regulatory function of the ets family gene EHF. Biochem. Biophys. Res. Commun. 264: 119-126, 1999.
[0019452]10040.Davidson, J. D.; Riley, B.; Burright, E.N.; Duvick, L.A.; Zoghbi, H.Y.; Orr, H. T.: Identification and characterization of an ataxin-1-interacting protein: A1Up, a ubiquitin-like nuclear protein. Hum. Molec. Genet. 9: 2305-2312, 2000.
[0019453]10041.Arita, Y.; Kihara, S.; Ouchi, N.; Takahashi, M.; Maeda, K.; Miyagawa, J.; Hotta, K.; Shimomura, I.; Nakamura, T.; Miyaoka, K.; Kuriyama, H.; Nishida, M.; Yamashita, S.; Okubo, K.; Matsubara, K.; Muraguchi, M.; Ohmoto, Y.; Funahashi, T.; Matsuzawa, Y.: Paradoxical decrease of an adipose-specific protein, adiponectin, in obesity. Biochem. Biophys. Res. Commun. 257: 79-83, 1999.
[0019454]10042.Comuzzie, A. G.; Funahashi, T.; Sonnenberg, G.; Martin, L. J.; Jacob, H. J.; Kwitek Black, A. E.; Maas, D.; Takahashi, M.; Kihara, S.; Tanaka, S.; Matsuzawa, Y.; Blangero, J.; Cohen, D.; Kissebah, A.: The genetic basis of plasma variation in adiponectin, a global endophenotype for obesity and the metabolic syndrome. J. Clin. Endocr. Metab. 86: 4321-4325, 2001.
[0019455]10043.Das, K.; Lin, Y.; Widen, E.; Zhang, Y.; Scherer, P. E.: Chromosomal localization, expression pattern, and promoter analysis of the mouse gene encoding adipocyte-specific secretory protein Acrp30. Biochem. Biophys. Res. Commun. 280: 1120-1129, 2001.
[0019456]10044.Maeda, K.; Okubo, K.; Shimomura, I.; Funahashi, T.; Matsuzawa, Y.; Matsubara, K.: cDNA cloning and expression of a novel adipose specific collagen-like factor, apM1 (adipose most abundant gene transcript 1). Biochem. Biophys. Res. Commun. 221: 286-289, 1996.
[0019457]10045.Maeda, N.; Shimomura, I.; Kishida, K.; Nishizawa, H.; Matsuda, M.; Nagaretani, H.; Furuyama, N.; Kondo, H.; Takahashi, M.; Arita, Y.; Komuro, R.; Ouchi, N.; Kihara, S.; Tochino, Y.; Okutomi, K.; Horie, M.; Takeda, S.; Aoyama, T.; Funahashi, T.; Matsuzawa, Y.: Diet-induced insulin resistance in mice lacking adiponectin/ACRP30. Nature Med. 8: 731-737, 2002.
[0019458]10046.Ouchi, N.; Kihara, S.; Arita, Y.; Maeda, K.; Kuriyama, H.; Okamoto, Y.; Hotta, K.; Nishida, M.; Takahashi, M.; Nakamura, T.; Yamashita, S.; Funahashi, T.; Matsuzawa, Y.: Novel modulator for endothelial adhesion molecules: adipocyte-derived plasma protein adiponectin. Circulation 100: 2473-2476, 1999.
[0019459]10047.Saito, K.; Tobe, T.; Minoshima, S.; Asakawa, S.; Sumiya, J.; Yoda, M.; Nakano, Y.; Shimizu, N.; Tomita, M.: Organization of the gene for gelatin-binding protein (GBP28). Gene 229: 67-73, 1999.
[0019460]10048.Zhao, L.; Gregoire, F.; Sul, H. S.: Transient induction of ENC-1, a kelch-related actinbinding protein, is required for adipocyte differentiation. J. Biol. Chem. 275: 16845-16850, 2000.
[0019461]10049.Kuno, K.; Kanada, N.; Nakashima, E.; Fujiki, F.; Ichimura, F.; Matsushima, K.: Molecular cloning of a gene encoding a new type of metalloproteinase-disintegrin family protein with thrombospondin motifs as an inflammation associated gene. J. Biol. Chem. 272: 556-562, 1997.
[0019462]10050.Hansen, L. L.; Jorgensen, R.; Justesen, J.: Assignment of the human mitochondrial translational release factor 1 (MTRF1) to chromosome 13q14.1-q14.3 and of the human mitochondrial ribosome recycling factor (MRRF) to chromosome 9q32-q34.1 with radiation hybrid mapping. Cytogenet. Cell Genet. 88: 91-92, 2000.
[0019463]10051.Zhang, Y.; Spremulli, L. L.: Identification and cloning of human mitochondrial translational release factor 1 and the ribosome recycling factor. Biochim. Biophys. Acta 1443: 245-250, 1998.
[0019464]10052.Sim, D. L.; Chow, V. T.: The novel human HUEL (C4orf1) gene maps to chromosome 4p12-p13 and encodes a nuclear protein containing the nuclear receptor interaction motif. Genomics 59: 224-233, 1999.
[0019465]10053.Stelnicki, E. J.; Arbeit, J.; Cass, D. L.; Saner, C.; Harrison, M.; Largman, C.: Modulation of the human homeobox genes PRX-2 and HOXB13 in scarless fetal wounds. J. Invest. Derm. 111: 57-63, 1998.
[0019466]10054.Beadling, C.; Johnson, K. W.; Smith, K. A.: Isolation of interleukin 2-induced immediate-early genes. Proc. Nat. Acad. Sci. 90: 2719-2723, 1993.
[0019467]10055.Gong, R.; Yu, L.; Zhang, H.; Tu, Q.; Zhao, Y.; Yang, J.; Xu, Y.; Zhao, S.: Assignment of human GADD45G to chromosome 9q22.1-q22.3 by radiation hybrid mapping. Cytogenet. Cell Genet. 88: 95-96, 2000.
[0019468]10056.Nakayama, K.; Hara, T.; Hibi, M.; Hirano, T.; Miyajima, A.: A novel oncostatin Minducible gene OIG37 forms a gene family with MyD118 and GADD45 and negatively regulates cell growth. J. Biol. Chem. 274: 24766-24772, 1999.
[0019469]10057.Suzuki, M.; Watanabe, T. K.; Fujiwara, T.; Nakamura, Y.; Takahashi, E.; Tanigami, A.: Molecular cloning, expression, and mapping of a novel human cDNA, GRP17, highly homologous to human gadd45 and murine MyD118. J. Hum. Genet. 44: 300-303, 1999.
[0019470]10058.Zhang, X.; Sun, H.; Danila, D. C.; Johnson, S. R.; Zhou, Y.; Swearingen, B.; Klibanski, A.: Loss of expression of GADD45-gamma, a growth inhibitory gene, in human pituitary adenomas: implications for tumorigenesis. J. Clin. Endocr. Metab. 87: 1262-1267, 2002.
[0019471]10059.Donzeau, M.; Kaldi, K.; Adam, A.; Paschen, S.; Wanner, G.; Guiard, B.; Bauer, M. F.; Neupert, W.; Brunner, M.: Tim23 links the inner and outer mitochondrial membranes. Cell 101: 401-412, 2000.
[0019472]10060.Scott, D. A.; Wang, R.; Kreman, T. M.; Sheffield, V. C.; Karniski, L. P.: The Pendred syndrome gene encodes a chloride-iodide transport protein. Nature Genet. 21: 440-443, 1999.
[0019473]10061.Scott, A. F.: Personal Communication. Baltimore, Md. 10/23/2001.
[0019474]10062.Pajor, A. M.: Sodium-coupled transporters for Krebs cycle intermediates. Annu. Rev. Physiol. 61: 663-682, 1999.
[0019475]10063.McGaughran, J. M.; Ward, H. B.; Evans, D. G.: WAGR syndrome and multiple exostoses in a patient with del(11)(p11.2p14.2). J. Med. Genet. 32: 823-824, 1995.
[0019476]10064.Wuyts, W.; Van Hul, W.; Wauters, J.; Nemtsova, M.; Reyniers, E.; Van Hul, E. V.; De Boulle, K.; de Vries, B. B.; Hendrickx, J.; Herrygers, I.; Bossuyt, P.; Balemans, W.; Fransen, E.; Vits, L.; Coucke, P.; Nowak, N. J.; Shows, T. B.; Mallet, L.; van den Ouweland, A. M.; McGaughran, J.; Halley, D. J.; Willems, P. J.: Positional cloning of a gene involved in hereditary multiple exostoses. Hum. Molec. Genet. 5: 1547-1557, 1996.
[0019477]10065.Creasy, C. L.; Chernoff, J.: Cloning and characterization of a human protein kinase with homology to Ste20. J. Biol. Chem. 270: 21695-21700, 1995.
[0019478]10066.Taylor, L. K.; Wang, H.-C. R.; Erikson, R. L.: Newly identified stress-responsive protein kinases, Krs-1 and Krs-2. Proc. Nat. Acad. Sci. 93: 10099-10104, 1996.
[0019479]10067.Carmo-Fonseca, M.; Kern, H.; Hurt, E. C.: Human nucleoporin p62 and the essential yeast nuclear pore protein NSP1 show sequence homology and a similar domain organization. Europ. J. Cell Biol. 55: 17-30, 1991.
[0019480]10068.Lennard, A.; Gorman, P.; Carrier, M.; Griffiths, S.; Scotney, H.; Sheer, D.; Solari, R.: Cloning and chromosome mapping of the human interleukin-1 receptor antagonist gene. Cytokine 4: 83-89, 1992.
[0019481]10069.Mansfield, J. C.; Holden, H.; Tarlow, J. K.; Di Giovine, F. S.; McDowell, T. L.; Wilson, A. G.; Holdsworth, C. D.; Duff, G. W.: Novel genetic association between ulcerative colitis and the anti-inflammatory cytokine interleukin-1 receptor antagonist. Gastroenterology 106: 637-642, 1994.
[0019482]10070.Patterson, D.; Jones, C.; Hart, I.; Bleskan, J.; Berger, R.; Geyer, D.; Eisenberg, S. P.; Smith, M. F., Jr.; Arend, W. P.: The human interleukin-1 receptor antagonist (IL1RN) gene is located in the chromosome 2q14 region. Genomics 15: 173-176, 1993.
[0019483]10071.Steinkasserer, A.; Spurr, N. K.; Cox, S.; Jeggo, P.; Sim, R. B. : The human IL-1 receptor antagonist gene (IL1RN) maps to chromosome 2q14-q21, in the region of the IL-1-alpha and IL-1-beta loci. Genomics 13: 654-657, 1992.
[0019484]10072.Tarlow, J. K.; Blakemore, A. I. F.; Lennard, A.; Solari, R.; Hughes, H. N.; Steinkasserer, A.; Duff, G. W.: Polymorphism in human IL-1 receptor antagonist gene intron 2 is caused by variable numbers of an 86-bp tandem repeat. Hum. Genet. 91: 403-404, 1993.
[0019485]10073.Tarlow, J. K.; Clay, F. E.; Cork, M. J.; Blakemore, A. I. F.; McDonagh, A. J. G.; Messenger, A. G.; Duff, G. W.: Severity of alopecia areata is associated with a polymorphism in the interleukin-1 receptor antagonist gene. J. Invest. Dermatol. 103: 387-390, 1994.
[0019486]10074.Wuyts, W.; Ramlakhan, S.; Van Hul, W.; Hecht, J. T.; van den Ouweland, A. M. W.; Raskind, W. H.; Hofstede, F. C.; Reyniers, E.; Wells, D. E.; de Vries, B.; Conrad, E. U.; Hill, A.; Zalatayev, D.; Weissenbach, J.; Wagner, M. J.; Bakker, E.; Halley, D. J. J.; Willems, P. J.: Refinement of the multiple exostoses locus (EXT2) to a 3-cM interval on chromosome 11. Am. J. Hum. Genet. 57: 382-387, 1995.
[0019487]10075.Schild, D.; Brake, A. J.; Kiefer, M. C.; Young, D.; Barr, P. J. : Cloning of three human multifunctional de novo purine biosynthetic genes by functional complementation of yeast mutations. Proc. Nat. Acad. Sci. 87: 2916-2920, 1990.
[0019488]10076.Garrow, T. A.; Brenner, A. A.; Whitehead, V. M.; Chen, X.-N.; Duncan, R. G.; Korenberg, J. R.; Shane, B.: Cloning of human cDNAs encoding mitochondrial and cytosolic serine hydroxymethyltransferases and chromosomal localization. J. Biol. Chem. 268: 11910-11916, 1993.
[0019489]10077.Kao, F.-T.; Chasin, L. A.; Puck, T. T.: Genetics of somatic mammalian cells. X. Complementation analysis of glycine-requiring mutants. Proc. Nat. Acad. Sci. 64: 1284-1291, 1969.
[0019490]10078.Stover, P. J.; Chen, L. H.; Suh, J. R.; Stover, D. M.; Keyomarsi, K.; Shane, B.: Molecular cloning, characterization, and regulation of the human mitochondrial serine hydroxymethyltransferase gene. J. Biol. Chem. 272: 1842-1848, 1997.
[0019491]10079.Alper, C. A.: Inherited structural polymorphism in human C2: evidence for genetic linkage between C2 and Bf. J. Exp. Med. 144: 1111-1115, 1976.
[0019492]10080.Wuyts, W.; Van Hul, W.; Wauters, J.; Nemtsova, M.; Reyniers, E.; Van Hul, E.; De Boulle, K.; de Vries, B. B. A.; Hendrickx, J.; Herrygers, I.; Bossuyt, P.; Balemans, W.; Fransen, E.; Vits, L.; Coucke, P.; Nowak, N. J.; Shows, T. B.; Mallet, L.; van den Ouweland, A. M. W.; McGaughran, J.; Halley, D. J. J.; Willems, P. J.: Positional cloning of a gene involved in hereditary multiple exostoses. Hum. Molec. Genet. 5: 1547-1557, 1996.
[0019493]10081.Fulton, A. B.; Hansen, R. M.; Petersen, R. A.; Vanderveen, D. K. : The rod photoreceptors in retinopathy of prematurity: an electroretinographic study. Arch. Ophthal. 119: 499-505, 2001.
[0019494]10082.Rochelle, J. M.; Watson, M. L.; Oakey, R. J.; Seldin, M. F.: A linkage map of mouse chromosome 19: definition of comparative mapping relationships with human chromosomes 10 and 11 including the MEN1 locus. Genomics 14: 26-31, 1992.
[0019495]10083.Seldin, M. F.; Saunders, A. M.; Rochelle, J. M.; Howard, T. A. : A proximal mouse chromosome 9 linkage map that further defines linkage groups homologous with segments of human chromosomes 11, 15, and 19. Genomics 9: 678-685, 1991.
[0019496]10084.Buckwalter, M. S.; Lossie, A. C.; Scarlett, L. M.; Camper, S. A. : Localization of the human chromosome 5q genes Gabra-1, Gabrg-2, I1-4, I1-5, and Irf-1 on mouse chromosome 11. Mammalian Genome 3: 604-607, 1992.
[0019497]10085.Jensen, K. B.; Dredge, B. K.; Stefani, G.; Zhong, R.; Buckanovich, R. J.; Okano, H. J.; Yang, Y. Y. L.; Darnell, R. B.: Nova-1 regulates neuron-specific alternative splicing and is essential for neuronal viability. Neuron 25: 359-371, 2000.
[0019498]10086.Ozcelik, T.; Suedhof, T. C.; Francke, U.: The genes for inositol 1,4,5-triphosphate receptors 1 (ITPR1) and 3 (ITPR3) are localized on human chromosomes 3p and 6pter-p21, respectively. (Abstract) Cytogenet. Cell Genet. 58: 1880, 1991.
[0019499]10087.Woodroofe, M. N.; Tunnacliffe, A.; Pym, B.; Goodfellow, P. N.; Walsh, F. S.: Human muscle cell surface antigen 16-3A5 is encoded by a gene on chromosome 11. Somat. Cell Molec. Genet. 10: 535-540, 1984.
[0019500]10088.Sudo, T.; Ozawa, K.; Soeda, E.-I.; Nomura, N.; Ishii, S.: Mapping of the human gene for the human immunodeficiency virus type 1 enhancer binding protein HIV-EP2 to chromosome 6q23-q24. Genomics 12: 167-170, 1992.
[0019501]10089.Li, C.; Lusis, A. J.; Sparkes, R.; Tran, S.-M.; Gaynor, R.: Characterization and chromosomal mapping of the gene encoding the cellular DNA binding protein HTLF. Genomics 13: 658-664, 1992.
[0019502]10090.Adams, P.; Falek, A.; Arnold, J.: Huntington disease in Georgia: age at onset. Am. J. Hum. Genet. 43: 695-704, 1988.
[0019503]10091.Almqvist, E.; Adam, S.; Bloch, M.; Fuller, A.; Welch, P.; Eisenberg, D.; Whelan, D.; Macgregor, D.; Meschino, W.; Hayden, M. R.: Risk reversals in predictive testing for Huntington disease. Am. J. Hum. Genet. 61: 945-952, 1997.
[0019504]10092.Almqvist, E.; Andrew, S.; Theilmann, J.; Goldberg, P.; Zeisler, J.; Drugge, U.; Grandell, U.; Tapper-Persson, M.; Winblad, B.; Hayden, M.; Anvret, M.: Geographical distribution of haplotypes in Swedish families with Huntington's disease. Hum. Genet. 94: 124-128, 1994.
[0019505]10093.Almqvist, E. W.; Elterman, D. S.; MacLeod, P. M.; Hayden, M. R. : High incidence rate and absent family histories in one quarter of patients newly diagnosed with Huntington disease in British Columbia. Clin. Genet. 60: 198-205, 2001.
[0019506]10094.Altherr, M. R.; Wasmuth, J. J.; Seldin, M. F.; Nadeau, J. H.; Baehr, W.; Pittler, S. J.: Chromosome mapping of the rod photoreceptor cGMP phosphodiesterase beta-subunit gene in mouse and human: tight linkage to the Huntington disease region (4p16.3). Genomics 12: 750-754, 1992.
[0019507]10095.de Vree, J. M. L.; Jacquemin, E.; Sturm, E.; Cresteil, D.; Bosma, P. J.; Aten, J.; Deleuze, J.-F.; Desrochers, M.; Burdelski, M.; Bernard, O.; Oude Elferink, R. P. J.; Hadchouel, M.: Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis. Proc. Nat. Acad. Sci. 95: 282-287, 1998.
[0019508]10096.Watanabe, T.; Bai, M.; Lane, C. R.; Matsumoto, S.; Minamitani, K.; Minagawa, M.; Niimi, H.; Brown, E. M.; Yasuda, T.: Familial hypoparathyroidism: identification of a novel gain of function mutation in transmembrane domain 5 of the calcium-sensing receptor. J. Clin. Endocr. Metab. 83: 2497-2502, 1998.
[0019509]10097.Hasegawa, T.; Hasegawa, Y.; Aso, T.; Koto, S.; Nagai, T.; Tsuchiya, Y.; Kim, K. C.; Ohashi, H.; Wakui, K.; Fukushima, Y.: HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13). Am. J. Med. Genet. 73: 416-418, 1997.
[0019510]10098.Henthorn, P. S.; Raducha, M.; Fedde, K. N.; Lafferty, M. A.; Whyte, M. P.: Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia. Proc. Nat. Acad. Sci. 89: 9924-9928, 1992.
[0019511]10099.Macfarlane, J. D.; Kroon, H. M.; van der Harten, J. J.: Phenotypically dissimilar hypophosphatasia in two sibships. Am. J. Med. Genet. 42: 117-121, 1992.
[0019512]10100.Moore, C. A.; Curry, C. J. R.; Henthorn, P. S.; Smith, J. A.; Smith, J. C.; O'Lague, P.; Coburn, S. P.; Weaver, D. D.; Whyte, M. P.: Mild autosomal dominant hypophosphatasia: in utero presentation in two families. Am. J. Med. Genet. 86: 410-415, 1999.
[0019513]10101.Mornet, E.: Personal Communication. Paris, France 6/3/1999.
[0019514]10102.Yamada, N.; Makino, Y.; Clark, R. A.; Pearson, D. W.; Mattei, M.-G.; Guenet, J.-L.; Ohama, E.; Fujino, I.; Miyawaki, A.; Furuichi, T.; Mikoshiba, K.: Human inositol 1,4,5-triphosphate type-1 receptor, InsP3R1: structure, function, regulation of expression and chromosomal localization. Biochem. J. 302: 781-790, 1994.
[0019515]10103.Maranto, A. R.: Primary structure, ligand binding, and localization of the human type 3 inositol 1,4,5-trisphosphate receptor expressed in intestinal epithelium. J. Biol. Chem. 269: 1222-1230, 1994.
[0019516]10104.Ozcelik, T.; Suedhof, T. C.; Francke, U.: The genes for inositol 1,4,5-triphosphate receptors 1 (ITPR1) and 3 (ITPR3) are localized on human chromosomes 3p and 6pter-p21, respectively. (Abstract) Cytogenet. Cell Genet. 58: 1880 only, 1991.
[0019517]10105.Yamamoto-Hino, M.; Sugiyama, T.; Hikichi, K.; Mattei, M. G.; Hasegawa, K.; Sekine, S.; Sakurada, K.; Miyawaki, A.; Furuichi, T.; Hasegawa, M.; Mikoshiba, K.: Cloning and characterization of human type 2 and type 3 inositol 1,4,5-triphosphate receptors. Receptors Channels 2: 9-22, 1994.
[0019518]10106.Acquati, F.; Malgaretti, N.; Hauptschein, R.; Rao, P.; Gaidano, G.; Taramelli, R.: A 2-Mb YAC contig linking the plasminogen-apoprotein(a) gene family to the insulin-like growth factor 2 receptor (IGF2R) gene on the telomeric region of chromosome 6 (6q26-q27). Genomics 22: 664-666, 1994.
[0019519]10107.Barlow, D. P.; Stoger, R.; Herrmann, B. G.; Saito, K.; Schweifer, N.: The mouse insulin-like growth factor type-2 receptor is imprinted and closely linked to the Tme locus. Nature 349: 84-87, 1991.
[0019520]10108.DeChiara, T. M.; Robertson, E. J.; Efstratiadis, A.: Parental imprinting of the mouse insulin-like growth factor II gene. Cell 64: 849-859, 1991.
[0019521]10109.De Souza, A. T.; Hankins, G. R.; Washington, M. K.; Fine, R. L.; Orton, T. C.; Jirtle, R. L.: Frequent loss of heterozygosity on 6q at the mannose 6-phosphate/insulin-like growth factor II receptor locus in human hepatocellular tumors. Oncogene 10: 1725-1729, 1995.
[0019522]10110.De Souza, A. T.; Hankins, G. R.; Washington, M. K.; Orton, T. C.; Jirtle, R. L.: M6P/IGF2R gene is mutated in human hepatocellular carcinomas with loss of heterozygosity. Nature Genet. 11: 447-449, 1995.
[0019523]10111.Feinberg, A. P.: Genomic imprinting and gene activation in cancer. Nature Genet. 4: 110-113, 1993.
[0019524]10112.Haig, D.; Graham, C.: Genomic imprinting and the strange case of the insulin-like growth factor II receptor. Cell 64: 1045-1046, 1991.
[0019525]10113.Haig, D.; Westoby, M.: Parent-specific gene expression and the triploid endosperm. Am. Nat. 134: 147-155, 1989.
[0019526]10114.Kalscheuer, V. M.; Mariman, E. C.; Schepens, M. T.; Rehder, H.; Ropers, H.-H.: The insulin-like-growth factor type-2 receptor gene is imprinted in the mouse but not in humans. Nature Genet. 5: 74-78, 1993.
[0019527]10115.Kiess, W.; Blickenstaff, G. D.; Sklar, M. M.; Thomas, C. L.; Nissley, S. P.; Sahagian, G. G.: Biochemical evidence that the type II insulin-like growth factor receptor is identical to the cationindependent mannose 6-phosphate receptor. J. Biol. Chem. 263: 9339-9344, 1988.
[0019528]10116.Killian, J. K.; Oka, Y.; Jang, H.-S.; Fu, X.; Waterland, R. A.; Sohda, T.; Sakaguchi, S.; Jirtle, R. L.: Mannose 6-phosphate/insulin-like growth factor 2 receptor (M6P/IGF2R) variants in American and Japanese populations. Hum. Mutat. 18: 25-31, 2001.
[0019529]10117.Kornfeld, S.; Mellman, I.: The biogenesis of lysosomes. Annu. Rev. Cell Biol. 5: 483-525, 1989.
[0019530]10118.Lau, M. M. H.; Stewart, C. E. H.; Liu, Z.; Bhatt, H.; Rotwein, P.; Stewart, C. L.: Loss of the imprinted IGF2/cation-independent mannose 6-phosphate receptor results in fetal overgrowth and perinatal lethality. Genes Dev. 8: 2953-2963, 1994.
[0019531]10119.Laureys, G.; Barton, D. E.; Ullrich, A.; Francke, U.: Chromosomal mapping of the gene for the type II insulin-like growth factor receptor/cation-independent mannose 6-phosphate receptor in man and mouse. Genomics 3: 224-229, 1988.
[0019532]10120.MacDonald, R. G.; Pfeffer, S. R.; Coussens, L.; Tepper, M. A.; Brocklebank, C. M.; Mole, J. E.; Anderson, J. K.: A single receptor binds both insulin-like growth factor II and mannose-6-phosphate. Science 239: 1134-1137, 1988.
[0019533]10121.Morgan, D. O.; Edman, J. D.; Standring, D. N.; Fried, V. A.; Smith, M. C.; Roth, R. A.; Rutter, W. J.: Insulin-like growth factor II receptor as a multifunctional binding protein. Nature 329: 301-307, 1987.
[0019534]10122.Benharroch, D.; Meguerian-Bedoyan, Z.; Lamant, L.; Amin, C.; Brugieres, L.; Terrier-Lacombe, M.-J.; Haralambieva, E.; Pulford, K.; Pileri, S.; Morris, S. W.; Mason, D. Y.; Delsol, G.: ALKpositive lymphoma: a single disease with a broad spectrum of morphology. Blood 91: 2076-2084, 1998.
[0019535]10123.Mathew, P.; Morris, S. W.; Kane, J. R.; Shurtleff, S. A.; Pasquini, M.; Jenkins, N. A.; Gilbert, D. J.; Copeland, N. G.: Localization of the murine homolog of the anaplastic lymphoma kinase (Alk) gene on mouse chromosome 17. Cytogenet. Cell Genet. 70: 143-144, 1995.
[0019536]10124.Morris, S. W.; Kirstein, M. N.; Valentine, M. B.; Dittmer, K. G.; Shapiro, D. N.; Saltman, D. L.; Look, A. T.: Fusion of a kinase gene, ALK, to a nucleolar protein gene, NPM, in non-Hodgkin's lymphoma. Science 263: 1281-1284, 1994.
[0019537]10125.Otto, E.; Kunimoto, M.; McLaughlin, T.; Bennett, V.: Isolation and characterization of cDNAs encoding human brain ankyrins reveal a family of alternatively spliced genes. J. Cell Biol. 114: 241-253, 1991.
[0019538]10126.Tse, W. T.; Menninger, J. C.; Yang-Feng, T. L.; Francke, U.; Sahr, K. E.; Lux, S. E.; Ward, D. C.; Forget, B. G.: Isolation and chromosomal localization of a novel non-erythroid ankyrin gene. Genomics 10: 858-866, 1991.
[0019539]10127.Grundmann, U.; Amann, E.; Abel, K.-J.; Kupper, H. A.: Isolation and expression of cDNA coding for a new member of the phospholipase A2 inhibitor family. Behring Inst. Mitt. 82: 59-67, 1988.
[0019540]10128.Hauptmann, R.; Maurer-Fogy, I.; Krystek, E.; Bodo, G.; Andree, H.; Reutelingsperger, C. P. M.: Vascular anticoagulant beta, a novel human Ca(2+)/phospholipid binding protein that inhibits coagulation and phospholipase A-2 activity: its molecular cloning, expression and comparison with VACalpha. Europ. J. Biochem. 185: 63-71, 1989.
[0019541]10129.Tait, J. F.; Smith, C.; Frankenberry, D. A.; Miao, C. H.; Adler, D. A.; Disteche, C. M.: Chromosomal mapping of the human annexin IV (ANX4) gene. Genomics 12: 313-318, 1992.
[0019542]10130.Bilezikian, J. P.; Morishima, A.; Bell, J.; Grumbach, M. M.: Increased bone mass as a result of estrogen therapy in a man with aromatase deficiency. New Eng. J. Med. 339: 599-603, 1998.
[0019543]10131.Oldridge, M.; Temple, I. K. Santos, H. G.; Gibbons, R. J.; Mustafa, Z.; Chapman, K. E.; Loughlin, J.; Wilkie, A. O. M.: Brachydactyly type B: linkage to chromosome 9q22 and evidence for genetic heterogeneity. Am. J. Hum. Genet. 64: 578-585, 1999.
[0019544]10132.Breimer, L. H.; MacIntyre, I.; Zaidi, M.: Peptides from the calcitonin genes: molecular genetics, structure and function. Biochem. J. 255: 377-390, 1988.
[0019545]10133.Schultz, D.; Mikala, G.; Yatani, A.; Engle, D. B.; Iles, D. E.; Segers, B.; Sinke, R. J.; Weghuis, D. O.; Klockner, U.; Wakamori, M.; Wang, J.-J.; Melvin, D.; Varadi, G.; Schwartz, A.: Cloning, chromosomal localization, and functional expression of the alpha-1 subunit of the L-type voltage-dependent calcium channel from normal human heart. Proc. Nat. Acad. Sci. 90: 6228-6232, 1993.
[0019546]10134.Soldatov, N. M.: Genomic structure of human L-type Ca(2+) channel. Genomics 22: 77-87, 1994.
[0019547]10135.Sun, W.; McPherson, J. D.; Hoang, D. Q.; Wasmuth, J. J.; Evans, G. A.; Montal, M.: Mapping of a human brain voltage-gated calcium channel to human chromosome 12p13-pter. Genomics 14: 1092-1094, 1992.
[0019548]10136.Tsien, R. W.; Ellinor, P. T.; Horne, W. A.: Molecular diversity of voltage-dependent Ca(2+) channels. Trends Pharm. Sci. 12: 349-354, 1991.
[0019549]10137.Chin, H.; Kozak, C. A.; Kim, H.-L.; Mock, B.; McBride, O. W.: A brain L-type calcium channel alpha-1 subunit gene (CCHL1A2) maps to mouse chromosome 14 and human chromosome 3. Genomics 11: 914-919, 1991.
[0019550]10138.Jinnah, H. A.; Yitta, S.; Drew, T.; Kim, B. S.; Visser, J. E.; Rothstein, J. D.: Calcium channel activation and self-biting in mice. Proc. Nat. Acad. Sci. 96: 15228-15232, 1999.
[0019551]10139.Mori, Y.; Friedrich, T.; Kim, M.-S.; Mikami, A.; Nakai, J.; Ruth, P.; Bosse, E.; Hofmann, F.; Flockerzi, V.; Furuichi, T.; Mikoshiba, K.; Imoto, K.; Tanabe, T.; Numa, S.: Primary structure and functional expression from complementary DNA of a brain calcium channel. Nature 350: 398-402, 1991.
[0019552]10140.Pennartz, C. M. A.; de Jeu, M. T. G.; Bos, N. P. A.; Schaap, J.; Geurtsen, A. M. S.: Diurnal modulation of pacemaker potentials and calcium current in the mammalian circadian clock. Nature 416: 286-290, 2002.
[0019553]10141.Platzer, J.; Engel, J.; Schrott-Fischer, A.; Stephan, K.; Bova, S.; Chen, H.; Zheng, H.; Striessnig, J.: Congenital deafness and sinoatrial node dysfunction in mice lacking class D L-type Ca(2+) channels. Cell 102: 89-97, 2000.
[0019554]10142.Seino, S.; Chen, L.; Seino, M.; Blondel, O.; Takeda, J.; Johnson, J. H.; Bell, G. I.: Cloning of the alpha-1 subunit of a voltage-dependent calcium channel expressed in pancreatic beta-cells. Proc. Nat. Acad. Sci. 89: 584-588, 1992.
[0019555]10143.Seino, S.; Yamada, Y.; Espinosa, R., III; Le Beau, M. M.; Bell, G. I.: Assignment of the gene encoding the alpha-1 subunit of the neuroendocrine/brain-type calcium channel (CACNL1A2) to human chromosome 3, band p14.3. Genomics 13: 1375-1377, 1992.
[0019556]10144.Powers, P. A.; Liu, S.; Hogan, K.; Gregg, R. G.: Skeletal muscle and brain isoforms of a beta-subunit of human voltage-dependent calcium channels are encoded by a single gene. J. Biol. Chem. 267: 22967-22972, 1992.
[0019557]10145.Gregg, R. G.; Messing, A.; Strube, C.; Beurg, M.; Moss, R.; Behan, M.; Sukhareva, M.; Haynes, S.; Powell, J. A.; Coronado, R.; Powers, P. A.: Absence of the beta subunit (cchb1) of the skeletal muscle dihydropyridine receptor alters expression of the alpha-1 subunit and eliminates excitation-contraction coupling. Proc. Nat. Acad. Sci. 93: 13961-13966, 1996.
[0019558]10146.Iles, D. E.; Segers, B.; Sengers, R. C. A.; Monsieurs, K.; Heytens, L.; Halsall, P. J.; Hopkins, P. M.; Ellis, F. R.; Hall-Curran, J. L.; Stewart, A. D.; Wieringa, B.: Genetic mapping of the beta-1- and gamma-subunits of the human skeletal muscle L-type voltage-dependent calcium channel on chromosome 17q and exclusion as candidate genes for malignant hyperthermia susceptibility. Hum. Molec. Genet. 2: 863-868, 1993.
[0019559]10147.Pragnell, M.; Sakamoto, J.; Jay, S. D.; Campbell, K. P.: Cloning and tissue-specific expression of the brain calcium channel beta-subunit. FEBS Lett. 291: 253-258, 1991.
[0019560]10148.Boerman, R. H.; Ophoff, R. A.; Links, T. P.; van Eijk, R.; Sandkuijl, L. A.; Elbaz, A.; Vale-Santos, J. E.; Wintzen, A. R.; van Deutekom, J. C.; Isles, D. E.; Fontaine, B.; Padberg, G. W.; Frants, R. R.: Mutation in DHP receptor alpha-1 subunit (CACLN1A3) (sic) gene in a Dutch family with hypokalaemic periodic paralysis. J. Med. Genet. 32: 44-47, 1995.
[0019561]10149.Chaudhari, N.: A single nucleotide deletion in the skeletal muscle-specific calcium channel transcript of muscular dysgenesis (mdg) mice. J. Biol. Chem. 267: 25636-25639, 1992.
[0019562]10150.Chin, H.; Krall, M.; Kim, H.-L.; Kozak, C. A.; Mock, B.: The gene for the alpha-1 subunit of the skeletal muscle dihydropyridine-sensitive calcium channel (Cchl1a3) maps to mouse chromosome 1. Genomics 14: 1089-1091, 1992.
[0019563]10151.Bulun, S. E.: Aromatase deficiency in women and men: would you have predicted the phenotypes? J. Clin. Endocr. Metab. 81: 867-871, 1996.
[0019564]10152.Carani, C.; Qin, K.; Simoni, M.; Faustini-Fustini, M.; Serpente, S.; Boyd, J.; Korach, K. S.; Simpson, E. R.: Effect of testosterone and estradiol in a man with aromatase deficiency. New Eng. J. Med. 337: 91-95, 1997.
[0019565]10153.Chen, S.; Besman, M. J.; Sparkes, R. S.; Zollman, S.; Klisak, I.; Mohandas, T.; Hall, P. F.; Shively, J. E.: Human aromatase: cDNA cloning, Southern blot analysis, and assignment of the gene to chromosome 15. DNA 7: 27-38, 1988.
[0019566]10154.Chen, S.; Shively, J. E.; Nakajin, S.; Shinoda, M.; Hall, P. F. : Amino terminal sequence analysis of human placenta aromatase. Biochem. Biophys. Res. Commun. 135: 713-719, 1986.
[0019567]10155.Conte, F. A.; Grumbach, M. M.; Ito, Y.; Fisher, C. R.; Simpson, E. R.: A syndrome of female pseudohermaphrodism, hypergonadotropic hypogonadism, and multicystic ovaries associated with missense mutations in the gene encoding aromatase (P450arom). J. Clin. Endocr. Metab. 78: 1287-1292, 1994.
[0019568]10156.Corbin, C. J.; Graham-Lorence, S.; McPhaul, M.; Mason, J. I.; Mendelson, C. R.; Simpson, E. R.: Isolation of a full-length cDNA insert encoding human aromatase system cytochrome P-450 and its expression in nonsteroidogenic cells. Proc. Nat. Acad. Sci. 85: 8948-8952, 1988.
[0019569]10157.Deladoey, J.; Fluck, C.; Bex, M.; Yoshimura, N.; Harada, N.; Mullis, P. E.: Aromatase deficiency caused by a novel P450(arom) gene mutation: impact of absent estrogen production on serum gonadotropin concentration in a boy. J. Clin. Endocr. Metab. 84: 4050-4054, 1999.
[0019570]10158.Ellis, J. A.; Stebbing, M.; Harrap, S. B.: Significant population variation in adult male height associated with the Y chromosome and the aromatase gene. J. Clin. Endocr. Metab. 86: 4147-4150, 2001.
[0019571]10159.Evans, C. T.; Ledesma, D. B.; Schulz, T. Z.; Simpson, E. R.; Mendelson, C. R.: Isolation and characterization of a complementary DNA specific for human aromatase-system cytochrome P-450 mRNA. Proc. Nat. Acad. Sci. 83: 6387-6391, 1986.
[0019572]10160.Fisher, C. R.; Graves, K. H.; Parlow, A. F.; Simpson, E. R.: Characterization of mice deficient in aromatase (ArKO) because of targeted disruption of the cyp19 gene. Proc. Nat. Acad. Sci. 95: 6965-6970, 1998.
[0019573]10161.George, F. W.; Matsumine, H.; McPhaul, M. J.; Somes, R. G., Jr.; Wilson, J. D.: Inheritance of the henny feathering trait in the Golden Campine chicken: evidence for allelism with the gene that causes henny feathering in the Sebright Bantam. J. Hered. 81: 107-110, 1990.
[0019574]10162.George, F. W.; Wilson, J. D.: Pathogenesis of the henny feathering trait in the Sebright Bantam chicken. J. Clin. Invest. 66: 57-65, 1980.
[0019575]10163.Harada, N.: Cloning of a complete cDNA encoding human aromatase: immunochemical identification and sequence analysis. Biochem. Biophys. Res. Commun. 156: 725-732, 1988.
[0019576]10164.Harada, N.; Ogawa, H.; Shozu, M.; Yamada, K.: Genetic studies to characterize the origin of the mutation in placental aromatase deficiency. Am. J. Hum. Genet. 51: 666-672, 1992.
[0019577]10165.Harada, N.; Ogawa, H.; Shozu, M.; Yamada, K.; Suhara, K.; Nishida, E.; Takagi, Y.: Biochemical and molecular genetic analyses on placental aromatase (P-450-AROM) deficiency. J. Biol. Chem. 267: 4781-4785, 1992.
[0019578]10166.Hemsell, D. L.; Edman, C. D.; Marks, J. F.; Siiteri, P. K.; MacDonald, P. C.: Massive extraglandular aromatization of plasma androstenedione resulting in feminization of a prepubertal boy. J. Clin. Invest. 60: 455-464, 1977.
[0019579]10167.Ito, Y.; Fisher, C. R.; Conte, F. A.; Grumbach, M. M.; Simpson, E. R.: Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries. Proc. Nat. Acad. Sci. 90: 11673-11677, 1993.
[0019580]10168.Leiberman, E.; Zachmann, M.: Familial adrenal feminization probably due to increased steroid aromatization. Hormone Res. 37: 96-102, 1992.
[0019581]10169.Leshin, M.; Baron, J.; George, F. W.; Wilson, J. D.: Increased estrogen formation and aromatase activity in fibroblasts cultured from the skin of chickens with the Henny feathering trait. J. Biol. Chem. 256: 4341-4344, 1981.
[0019582]10170.Leshin, M.; George, F. W.; Wilson, J. D.: Increased estrogen synthesis in the Sebright bantam is due to a mutation that causes increased aromatase activity. Trans. Assoc. Am. Phys. 94: 97-105, 1981.
[0019583]10171.Mango, D.; Montemurro, A.; Scirpa, P.; Bompiani, A.; Menini, E. : Four cases of pregnancy with low estrogen production due to placental enzymatic deficiency. Europ. J. Obstet. Gynec. Reprod. Biol. 8: 65-71, 1978.
[0019584]10172.McTernan, P. G.; Anderson. L. A.; Anwar, A. J.; Eggo, M. C.; Crocker, J.; Barnett, A. H.; Stewart, P. M.; Kumar, S.: Glucocorticoid regulation of P450 aromatase activity in human adipose tissue: gender and site differences. J. Clin. Endocr. Metab. 87: 1327-1336, 2002.
[0019585]10173.Morishima, A.; Grumbach, M. M.; Simpson, E. R.; Fisher, C.; Qin, K.: Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens. J. Clin. Endocr. Metab. 80: 3689-3698, 1995.
[0019586]10174.Mullis, P. E.; Yoshimura, N.; Kuhlmann, B.; Lippuner, K.; Jaeger, P.; Harada, H.: Aromatase deficiency in a female who is compound heterozygote for two new point mutations in the P450(arom) gene: impact of estrogens on hypergonadotropic hypogonadism, multicystic ovaries, and bone densitometry in childhood. J. Clin. Endocr. Metab. 82: 1739-1745, 1997.
[0019587]10175.Phornphutkul, C.; Okubo, T.; Wu, K.; Harel, Z.; Tracy, T. F., Jr.; Pinar, H.; Chen, S.; Gruppuso, P. A.; Goodwin, G.: Aromatase P450 expression in a feminizing adrenal adenoma presenting as isosexual precocious puberty. J. Clin. Endocr. Metab. 86: 649-652, 2001.
[0019588]10176.Robertson, K. M.; O'Donnell, L.; Jones, M. E. E.; Meachem, S. J.; Boon, W. C.; Fisher, C. R.; Graves, K. H.; McLachlan, R. I.; Simpson, E. R.: Impairment of spermatogenesis in mice lacking a functional aromatase (cyp 19) gene. Proc. Nat. Acad. Sci. 96: 7986-7991, 1999.
[0019589]10177.Sebastian, S.; Bulun, S. E.: A highly complex organization of the regulatory region of the human CYP19 (aromatase) gene revealed by the Human Genome Project. J. Clin. Endocr. Metab. 86: 4600-4602, 2001.
[0019590]10178.Allen, S. J.; O'Donnell, A.; Alexander, N. D. E.; Mgone, C. S.; Peto, T. E. A.; Clegg, J. B.; Alpers, M. P.; Weatherall, D. J.: Prevention of cerebral malaria in children in Papua New Guinea by southeast Asian ovalocytosis band 3. Am. J. Trop. Med. Hyg. 60: 1056-1060, 1999.
[0019591]10179.Alloisio, N.; Maillet, P.; Carre, G.; Texier, P.; Vallier, A.; Baklouti, F.; Philippe, N.; Delaunay, J.: Hereditary spherocytosis with band 3 deficiency: association with a nonsense mutation of the band 3 gene (allele Lyon), and aggravation by a low-expression allele occurring in trans (allele Genas). Blood 88: 1062-1069, 1996.
[0019592]10180.Alloisio, N.; Texier, P.; Vallier, A.; Ribeiro, M. L.; Morle, L.; Bozon, M.; Bursaux, E.; Maillet, P.; Goncalves, P.; Tanner, M. J. A.; Tamagnini, G.; Delaunay, J.: Modulation of clinical expression and band 3 deficiency in hereditary spherocytosis. Blood 90: 414-420, 1997.
[0019593]10181.Amato, D.; Booth, P. B.: Hereditary ovalocytosis in Melanesians. Papua New Guinea Med. J. 20: 26-32, 1977.
[0019594]10182.Baehner, R. L.; Gilchrist, G. S.; Anderson, E. J.: Hereditary elliptocytosis and primary renal tubular acidosis in a single family. Am. J. Dis. Child. 115: 414-419, 1968.
[0019595]10183.Baer, A.: Elliptocytosis, malaria, and fertility in Malaysia. Hum. Biol. 60: 909-915, 1988.
[0019596]10184.Baer, A.; Lie-Injo, L. E.; Welch, Q. B.; Lewis, A. N.: Genetic factors and malaria in the Temuan. Am. J. Hum. Genet. 28: 179-188, 1976.
[0019597]10185.Booth, P. B.: The occurrence of weak I(T) red cell antigen among Melanesians. Vox Sang. 22: 64-72, 1972.
[0019598]10186.Booth, P. B.; Serjeantson, S.; Woodfield, D. G.; Amato, D.: Selective depression of blood group antigens associated with hereditary ovalocytosis among Melanesians. Vox Sang. 32: 99-110, 1977.
[0019599]10187.Bracher, N. A.; Lyons, C. A.; Wessels, G.; Mansvelt, E.; Coetzer, T. L.: Band 3 Cape Town (E90K) causes severe hereditary spherocytosis in combination with band 3 Prague III. Brit. J. Haemat. 113: 689-693, 2001.
[0019600]10188.Bruce, L. J.; Anstee, D. J.; Spring, F. A.; Tanner, M. J. A.: Band 3 Memphis variant. II. Altered stilbene disulfonate binding and the Diego (Di(a)) blood group antigen are associated with the human erythrocyte band 3 mutation pro854-to-leu. J. Biol. Chem. 269: 16155-16158, 1994.
[0019601]10189.Bruce, L. J.; Ring, S. M.; Anstee, D. J.; Reid, M. E.; Wilkinson, S.; Tanner, M. J. A.: Changes in the blood group Wright antigens are associated with a mutation at amino acid 658 in human erythrocyte band 3: a site of interaction between band 3 and glycophorin A under certain conditions. Blood 85: 541-547, 1995.
[0019602]10190.Bruce, L. J.; Tanner, M. J.; Zelinski, T.: The low incidence blood group antigen, Wd(a), is associated with the substitution val557-to-met in human erythrocyte band 3. (Abstract) Transfusion 35 (suppl.): 52S only, 1995.
[0019603]10191.Bruce, L. J.; Wrong, O.; Toye, A. M.; Young, M. T.; Ogle, G.; Ismail, Z.; Sinha, A. K.; McMaster, P.; Hwaihwanje, I.; Nash, G. B.; Hart, S.; Lavu, E.; Palmer, R.; Othman, A.; Unwin, R. J.; Tanner, M. J. A.: Band 3 mutations, renal tubular acidosis and South-East Asian ovalocytosis in Malaysia and Papua New Guinea: loss of up to 95% band 3 transport in red cells. Biochem. J. 350: 41-51, 2000.
[0019604]10192.Coetzer, T. L.; Beeton, L.; van Zyl, D.; Field, S. P.; Smart, E.; Daniels, G. L.: Southeast Asian ovalocytosis in a South African kindred with hemolytic anemia. Blood 87: 1656-1658, 1996.
[0019605]10193.del Giudice, E.; Perrotta, S.; Pinto, L.; Cappellini, M. D.; Fiorelli, G.; Cutillo, S.; Iolascon, A.: Hereditary spherocytosis characterized by increased spectrin/band 3 ratio. Brit. J. Haemat. 80: 133-136, 1992.
[0019606]10194.del Giudice, E. M.; Perrotta, S.; Nobili, B.; Pinto, L.; Cutillo, L.; Iolascon, A.: Coexistence of hereditary spherocytosis (HS) due to band 3 deficiency and beta-thalassaemia trait: partial correction of HS phenotype. Brit. J. Haemat. 85: 553-557, 1993.
[0019607]10195.Dhermy, D.; Galand, C.; Bournier, O.; Boulanger, L.; Cynober, T.; Schismanoff, P. O.; Bursaux, E.; Tchernia, G.; Boivin, P.; Garbarz, M.: Heterogenous band 3 deficiency in hereditary spherocytosis related to different band 3 gene defects. Brit. J. Haemat. 98: 32-40, 1997.
[0019608]10196.Feest, T. G.; Proctor, S.; Brown, R.; Wrong, O. M.: Nephrocalcinosis: another cause of renal erythrocytosis. Brit. Med. J. 2: 605 only, 1978.
[0019609]10197.Fix, A. G.; Baer, A. S.; Lie-Injo, L. E.: The mode of inheritance of ovalocytosis/elliptocytosis in Malaysian Orang Asli families. Hum. Genet. 61: 250-253, 1982.
[0019610]10198.Ganesan, J.; Lie-Injo, L. E.; Ong, B. P.: Abnormal hemoglobins, glucose-6-phosphate dehydrogenase deficiency and hereditary ovalocytosis in the Dayaks of Sarawak. Hum. Hered. 25: 258-262, 1975.
[0019611]10199.Groves, J. D.; Ring, S. M.; Schofield, A. E.; Tanner, M. J. A. : The expression of the abnormal human red cell anion transporter from South-East Asian ovalocytes (band 3 SAO) in Xenopus oocytes. FEBS Lett. 330: 186-190, 1993.
[0019612]10200.Mohr, J.; Eiberg, H.: Colton blood groups: indication of linkage with the Kidd (Jk) system as support for assignment to chromosome 7. Clin. Genet. 11: 372-374, 1977.
[0019613]10201.Dayhoff, M. O.: Atlas of Protein Sequence and Structure. Hormones, active peptides and toxins. Washington: National Biomedical Research Foundation (pub.) 5: 1972. Pp. D205 only.
[0019614]10202.Edbrooke, M. R.; Parker, D.; McVey, J. H.; Riley, J. H.; Sorenson, G. D.; Pettengill, O. S.; Craig, R. K.: Expression of the human calcitonin/CGRP gene in lung and thyroid carcinoma. EMBO J. 4: 715-724, 1985.
[0019615]10203.Girgis, S. I.; Macdonald, D. W. R.; Stevenson, J. C.; Bevis, P. J. R.; Lynch, C.; Wimalawansa, S. J.; Self, C. H.; Morris, H. R.; MacIntyre, I.: Calcitonin gene-related peptide: potent vasodilator and major product of calcitonin gene. Lancet II: 14-16, 1985.
[0019616]10204.Goltzman, D.; Mitchell, J.: Interaction of calcitonin and calcitonin gene-related peptide at receptor sites in target tissues. Science 227: 1343-1345, 1985.
[0019617]10205.Henry, I.; Grandjouan, S.; Barichard, F.; Huerre-Jeanpierre, C.; Junien, C.: Mitotic deletions of 11p15.5 in two different tumors indicate that the CALCA locus is distal to the PTH locus. Cytogenet. Cell Genet. 50: 155-157, 1989.
[0019618]10206.Hillyard, C. J.; Myers, C.; Abeyasekera, G.; Stevenson, J. C.; Craig, R. K.; MacIntyre, I.: Katacalcin: a new plasma calcium-lowering hormone. Lancet I: 846-848, 1983.
[0019619]10207.Hoovers, J. M. N.; Redeker, E.; Speleman, F.; Hoppener, J. W. M.; Bhola, S.; Bliek, J.; van Roy, N.; Leschot, N. J.; Westerveld, A.; Mannens, M.: High-resolution chromosomal localization of the human calcitonin/CGRP/IAPP gene family members. Genomics 15: 525-529, 1993.
[0019620]10208.Hoppener, J. W. M.; Steenbergh, P. H.; Zandberg, J.; Adema, G. J.; Geurts van Kessel, A. H. M.; Lips, C. J. M.; Jansz, H. S.: A third human CALC (pseudo)gene on chromosome 11. FEBS Lett. 233: 57-63, 1988.
[0019621]10209.Hoppener, J. W. M.; Steenbergh, P. H.; Zandberg, J.; Bakker, E.; Pearson, P. L.; Geurts van Kessel, A. H. M.; Jansz, H. S.; Lips, C. J. M.: Localization of the polymorphic human calcitonin gene on chromosome 11. Hum. Genet. 66: 309-312, 1984.
[0019622]10210.Jacobs, J. W.; Goodman, R. H.; Chin, W. W.; Dee, P. C.; Habener, J. F.; Bell, N. H.; Potts, J. T., Jr.: Calcitonin messenger RNA encodes multiple polypeptides in a single precursor. Science 213: 457-459, 1981.
[0019623]10211.Jonas, V.; Lin, C. R.; Kawashima, E.; Semon, D.; Swanson, L. W.; Mermod, J.-J.; Evans, R. M.; Rosenfeld, M. G.: Alternative RNA processing events in human calcitonin/calcitonin generelated peptide gene expression. Proc. Nat. Acad. Sci. 82: 1994-1998, 1985.
[0019624]10212.Kittur, S. D.; Hoppener, J. W. M.; Antonarakis, S. E.; Daniels, J. D. J.; Meyers, D. A.; Maestri, N. E.; Jansen, M.; Korneluk, R. G.; Nelkin, B. D.; Kazazian, H. H., Jr.: Linkage map of the short arm of human chromosome 11: location of the genes for catalase, calcitonin, and insulin-like growth factor II. Proc. Nat. Acad. Sci. 82: 5064-5067, 1985.
[0019625]10213.MacIntyre, I.; Hillyard, C. J.; Murphy, P. K.; Reynolds, J. J.; Gaines-Das, R. E.; Craig, R. K.: A second plasma calcium-lowering peptide from the human calcitonin precursor. Nature 300: 460-462, 1982.
[0019626]10214.Mathe, A. A.; Agren, H.; Lindstrom, L.; Theodorsson, E.: Increased concentration of calcitonin gene-related peptide in cerebrospinal fluid of depressed patients: a possible trait marker of major depressive disorder. Neurosci. Lett. 182: 138-142, 1994.
[0019627]10215.Neher, R.; Riniker, B.; Rittel, W.; Zuber, H.: Thyrocalcitonin. II. Struktur von alpha-Thyrocalcitonin. Helv. Chim. Acta 51: 917-924, 1968.
[0019628]10216.New, H. V.; Mudge, A. W.: Calcitonin gene-related peptide regulates muscle acetylcholine receptor synthesis. Nature 323: 809-811, 1986.
[0019629]10217.Przepiorka, D.; Baylin, S. B.; McBride, D. W.; Testa, J. R.; de Bustros, A.; Nelkin, B. D.: The human calcitonin gene is located on the short arm of chromosome 11. Biochem. Biophys. Res. Commun. 120: 493-499, 1984.
[0019630]10218.Rosenfeld, M. G.; Lin, C. R.; Amara, S. G.; Stolarsky, L.; Roos, B. A.; Ong, E. S.; Evans, R. M.: Calcitonin mRNA polymorphism: peptide switching associated with alternative RNA splicing events. Proc. Nat. Acad. Sci. 79: 1717-1721, 1982.
[0019631]10219.Vora, S.; Seaman, C.; Durham, S.; Piomelli, S.: Isozymes of human phosphofructokinase: identification and subunit structural characterization of a new system. Proc. Nat. Acad. Sci. 77: 62-66, 1980.
[0019632]10220.Mimmack, M. L.; Ryan, M.; Baba, H.; Navarro-Ruiz, J.; Iritani, S.; Faull, R. L. M.; McKenna, P. J.; Jones, P. B.; Arai, H.; Starkey, M.; Emson, P. C.; Bahn, S.: Gene expression analysis in schizophrenia: reproducible up-regulation of several members of the apolipoprotein L family located in a high-susceptibility locus for schizophrenia on chromosome 22. Proc. Nat. Acad. Sci. 99: 4680-4685, 2002.
[0019633]10221.Schmauss, C.; McAllister, G.; Ohosone, Y.; Hardin, J. A.; Lerner, M. R.: A comparison of snRNP-associated Sm-autoantigens: human N, rat N and human B/B-prime. Nucleic Acids Res. 17: 1733-1743, 1989.
[0019634]10222.Kovacs, G.; Kung, H.: Nonhomologous chromatid exchange in hereditary and sporadic renal cell carcinomas. Proc. Nat. Acad. Sci. 88: 194-198, 1991.
[0019635]10223.Pompe, J. C.: Over Idiopathische hypertrophie van het hart. Nederl. Tijdschr. Geneesk. 76: 304-312, 1932.
[0019636]10224.Brunkow, M. E.; Gardner, J. C.; Van Ness, J.; Paeper, B. W.; Kovacevich, B. R.; Proll, S.; Skonier, J. E.; Zhao, L.; Sabo, P. J.; Fu, Y.-H.; Alisch, R. S.; Gillett, L.; Colbert, T.; Tacconi, P.; Galas, D.; Hamersma, H.; Beighton, P.; Mulligan, J. T.: Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein. Am. J. Hum. Genet. 68: 577-589, 2001.
[0019637]10225.Mansfield, E.; Chae, J. J.; Komarow, H. D.; Brotz, T. M.; Frucht, D. M.; Aksentijevich, I.; Kastner, D. L.: The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments. Blood 98: 851-859, 2001.
[0019638]10226.Auer, I. A.; Schmidt, M. L.; Lee, V. M.-Y.; Curry, B.; Suzuki, K.; Shin, R.-W.; Pentchev, P. G.; Carstea, E. D.; Trojanowski, J. Q.: Paired helical filament tau (PHFtau) in Niemann-Pick type C disease is similar to PHFtau in Alzheimer's disease. Acta Neuropath. 90: 547-551, 1995.
[0019639]10227.Mules, E. H.; Dowling, C. E.; Petersen, M. B.; Kazazian, H. H., Jr.; Thomas, G. H.: A novel mutation in the invariant AG of the acceptor splice site of intron 4 of the beta-hexosaminidase alpha-subunit gene in two unrelated American black G(M2)-gangliosidosis (Tay-Sachs disease) patients. Am. J. Hum. Genet. 48: 1181-1185, 1991.
[0019640]10228.Montini, E.; Rugarli, E. I.; Van de Vosse, E.; Andolfi, G.; Mariani, M.; Puca, A. A.; Consalez, G. G.; den Dunnen, J. T.; Ballabio, A.; Franco, B.: A novel human serine-threonine phosphatase related to the Drosophila retinal degeneration C (rdgC) gene is selectively expressed in sensory neurons of neural crest origin. Hum. Molec. Genet. 6: 1137-1145, 1997.
[0019641]10229.Nishino, I.; Fu, J.; Tanji, K.; Yamada, T.; Shimojo, S.; Koori, T.; Mora, M.; Riggs, J. E.; Oh, S. J.; Koga, Y.; Sue, C. M.; Yamamoto, A.; Murakami, N.; Shanske, S.; Byrne, E.; Bonilla, E.; Nonaka, I.; DiMauro, S.; Hirano, M.: Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). Nature 406: 906-910, 2000.
[0019642]10230.Zonana, J.; Gault, J.; Davies, K. J. P.; Jones, M.; Browne, D.; Litt, M.; Brockdorff, N.; Rastan, S.; Clarke, A.; Thomas, N. S. T. : Detection of a molecular deletion at the DXS732 locus in a patient with X-linked hypohidrotic ectodermal dysplasia (EDA), with the identification of a unique junctional fragment. Am. J. Hum. Genet. 52: 78-84, 1993.
[0019643]10231.Ueki, Y.; Naito, I.; Oohashi, T.; Sugimoto, M.; Seki, T.; Yoshioka, H.; Sado, Y.; Sato, H.; Sawai, T.; Sasaki, F.; Matsuoka, M.; Fukuda, S.; Ninomiya, Y.: Topoisomerase I and II consensus sequences in a 17-kb deletion junction of the COL4A5 and COL4A6 genes and immunohistochemical analysis of esophageal leiomyomatosis associated with Alport syndrome. Am. J. Hum. Genet. 62: 253-261, 1998.
[0019644]10232.Rowe, R. C.; Schroeder, M.-L.; Faiman, C.: Testosterone-induced fertility in a patient with previously untreated Kallmann's syndrome. Fertil. Steril. 40: 400-401, 1983.
[0019645]10233.Hata, A.; Setoyama, C.; Shimada, K.; Takeda, E.; Kuroda, Y.; Akaboshi, I.; Matsuda, I.: Ornithine transcarbamylase deficiency resulting from a C-to-T substitution in exon 5 of the ornithine transcarbamylase gene. Am. J. Hum. Genet. 45: 123-127, 1989.
[0019646]10234.Huopaniemi, L.; Fellman, J.; Rantala, A.; Eriksson, A.; Forsius, H.; de la Chapelle, A.; Alitalo, T.: Skewed secondary sex ratio in the offspring of carriers of the 214G-A mutation of the RS1 gene. Ann. Hum. Genet. 63: 521-533, 1999.
[0019647]10235.Johnson, M. D.; Tho, S. P. T.; Behzadian, A.; McDonough, P. G. : Molecular scanning of Yq11 (interval 6) in men with Sertoli-cell-only syndrome. Am. J. Obstet. Gynec. 161: 1732-1737, 1989.
[0019648]10236.Bolger, G.; Michaeli, T.; Martins, T.; St. John, T.; Steiner, B.; Rodgers, L.; Riggs, M.; Wigler, M.; Ferguson, K.: A family of human phosphodiesterases homologous to the dunce learning and memory gene product of Drosophila melanogaster are potential targets for antidepressant drugs. Molec. Cell. Biol. 13: 6558-6571, 1993.
[0019649]10237.Welcsh, P. L.; King, M.-C.: BRCA1 and BRCA2 and the genetics of breast and ovarian cancer. Hum. Molec. Genet. 10: 705-713, 2001.
[0019650]10238.Argyrokastritis, A.; Kamakari, S.; Kapsetaki, M.; Kritis, A.; Talianidis, I.; Moschonas, N. K.: Human hepatocyte nuclear factor-4 (hHNF-4) gene maps to 20q12-q13.1 between PLCG1 and D20S17. Hum. Genet. 99: 233-236, 1997.
[0019651]10239.Weaver, D. R.; Rivkees, S. A.; Carlson, L. L.; Reppert, S. M.: Localization of melatonin receptors in mammalian brain.In: Klein, D. C.; Moore, R. Y.; Reppert, S. M.: Suprachiasmatic Nucleus: The Mind's Clock. New York: Oxford Press (pub.) 1991.
[0019652]10240.Pickard, R. T.; Strifler, B. A.; Kramer, R. M.; Sharp, J. D.: Molecular cloning of two new human paralogs of 85-kDa cytosolic phospholipase A2. J. Biol. Chem. 274: 8823-8831, 1999.
[0019653]10241.Lopes, J.; LeGuern, E.; Gouider, R.; Tardieu, S.; Abbas, N.; Birouk, N.; Gugenheim, M.; Bouche, P.; Agid, Y.; Brice, A.; French CMT Collaborative Research Group: Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: new tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A. Am. J. Hum. Genet. 58: 1223-1230, 1996.
[0019654]10242.Hegele, R. A.; Cao, H.; Harris, S. B.; Zinman, B.; Hanley, A. J. G.; Anderson, C. M.: Peroxisome proliferator-activated receptor-gamma2 P12A and type 2 diabetes in Canadian Oji-Cree. J. Clin. Endocr. Metab. 85: 2014-2019, 2000.
[0019655]10243.Chua, A. O.; Chizzonite, R.; Desai, B. B.; Truitt, T. P.; Nunes, P.; Minetti, L. J.; Warrier, R. R.; Presky, D. H.; Levine, J. F.; Gately, M. K.; Gubler, U.: Expression cloning of a human IL-12 receptor component: a new member of the cytokine receptor superfamily with strong homology to gp130. J. Immun. 153: 128-136, 1994.
[0019656]10244.Warburg, M.; Tommerup, N.; Vestermark, S.; Parving, A.; Weismann, K.; Russell, B.; Thomsen, H. K.: The Yemenite deaf-blind hypopigmentation syndrome: a new oculo-dermato-auditory syndrome. Ophthal. Paediat. Genet. 11: 201-207, 1990.
[0019657]10245.Wedemeyer, N.; Peoples, R.; Himmelbauer, H.; Lehrach, H.; Francke, U.; Wanker, E. E.: Localization of the human HIP1 gene close to the elastin (ELN) locus on 7q11.23. Genomics 46: 313-315, 1997.
[0019658]10246.Zetterstrom, R. H.; Solomin, L.; Jansson, L.; Hoffer, B. J.; Olson, L.; Perlmann, T.: Dopamine neuron agenesis in Nurr1-deficient mice. Science 276: 248-250, 1997.
[0019659]10247.Ye, H.; Kelly, T. F.; Samadani, U.; Lim, L.; Rubio, S.; Overdier, D. G.; Roebuck, K. A.; Costa, R. H.: Hepatic nuclear factor 3/fork head homolog 11 is expressed in proliferating epithelial and mesenchymal cells of embryonic and adult tissues. Molec. Cell. Biol. 17: 1626-1641, 1997.
[0019660]10248.Chu, C.-S.; Trapnell, B. C.; Murtagh, J. J., Jr.; Moss, J.; Dalemans, W.; Jallat, S.; Mercenier, A.; Pavirani, A.; Lecocq, J.-P.; Cutting, G. R.; Guggino, W. B.; Crystal, R. G.: Variable detection of exon 9 coding sequences in cystic fibrosis transmembrane conductance regulator gene mRNA transcripts in normal bronchial epithelium. EMBO J. 10: 1355-1363, 1991.
[0019661]10249.Bryan, J.; Kane, R. E.: Actin gelation in sea urchin egg extracts. Methods Cell Biol. 25: 175-199, 1982.
[0019662]10250.Bittner, R. E.; Anderson, L. V. B.; Burkhardt, E.; Bashir, R.; Vafiadaki, E.; Ivanova, S.; Raffelsberger, T.; Maerk, I.; Hoger, H.; Jung, M.; Karbasiyan, M.; Storch, M.; Lassmann, H.; Moss, J. A.; Davison, K.; Harrison, R.; Bushby, K. M. D.; Reis, A.: Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B. (Letter) Nature Genet. 23: 141-142, 1999.
[0019663]10251.Wilgoss, A.; Leigh, I. M.; Barnes, M. R.; Dopping-Hepenstal, P.; Eady, R. A. J.; Walter, J. M.; Kennedy, C. T. C.; Kelsell, D. P.: Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis. J. Invest. Derm. 113: 1119-1122, 1999.
[0019664]10252.Lamhonwah, A.-M.; Olpin, S. E.; Pollitt, R. J.; Vianey-Saban, C.; Divry, P.; Guffon, N.; Besley, G. T. N.; Onizuka, R.; De Meirleir, L. J.; Cvitanovic-Sojat, L.; Baric, I.; Dionisi-Vici, C.; Fumic, K.; Maradin, M.; Tein, I.: Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy. Am. J. Med. Genet. 111: 271-284, 2002.
[0019665]10253.Koi, M.; Johnson, L. A.; Kalikin, L. M.; Little, P. F. R.; Nakamura, Y.; Feinberg, A. P.: Tumor cell growth arrest caused by subchromosomal transferable DNA fragments from chromosome 11. Science 260: 361-364, 1993.
[0019666]10254.Yamada, T.; Ochi, H.; Hara, H.; Yoshimura, T.; Kobayashi T.: A skeletal muscle sodium channel mutation in a Japanese family with paramyotonia congenita. J. Neurol. Sci. 133: 192-193, 1995.
[0019667]10255.Makoff, A.; Pilling, C.; Harrington, K.; Emson, P.: Human metabotropic glutamate receptor type 7: molecular cloning and mRNA distribution in the CNS. Molec. Brain Res. 40: 165-170, 1996.
[0019668]10256.Esterbauer, H.; Oberkofler, H.; Krempler, F.; Patsch, W.: Human peroxisome proliferator activated receptor gamma coactivator 1 (PPARGC1) gene: cDNA sequence, genomic organization, chromosomal localization, and tissue expression. Genomics 62: 98-102, 1999.
[0019669]10257.Tsuchida, K.; Arai, K. Y.; Kuramoto, Y.; Yamakawa, N.; Hasegawa, Y.; Sugino, H.: Identification and characterization of a novel follistatin-like protein as a binding protein for the TGF-beta family. J. Biol. Chem. 275: 40788-40796, 2000.
[0019670]10258.Takatsu, H.; Yoshino, K.; Nakayama, K.: Adaptor gamma-ear homology domain conserved in gamma-adaptin and GGA proteins that interact with gamma-synergin. Biochem. Biophys. Res. Commun. 271: 719-725, 2000.
[0019671]10259.Burbelo, P. D.; Snow, D. M.; Bahou, W.; Spiegel, S.: MSE55, a Cdc42 effector protein, induces long cellular extensions in fibroblasts. Proc. Nat. Acad. Sci. 96: 9083-9088, 1999.
[0019672]10260.Tsavaler, L.; Shapero, M. H.; Morkowski, S.; Laus, R.: Trp-p8, a novel prostatespecific gene, is up-regulated in prostate cancer and other malignancies and shares high homology with transient receptor potential calcium channel proteins. Cancer Res. 61: 3760-3769, 2001.
[0019673]10261.Tomczak, J.; Boogen, C.; Grebner, E. E.: Distribution of a pseudodeficiency allele among Tay-Sachs carriers. (Letter) Am. J. Hum. Genet. 53: 537-539, 1993.
[0019674]10262.Rafi, M. A.; Luzi, P.; Chen, Y. Q.; Wenger, D. A.: A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease. Hum. Molec. Genet. 4: 1285-1289, 1995.
[0019675]10263.Hazarika, P.; Dham, N.; Patel, P.; Cho, M.; Weidner, D.; Goldsmith, L.; Duvic, M.: Flotillin 2 is distinct from epidermal surface antigen (ESA) and is associated with filopodia formation. J. Cell. Biochem. 75: 147-159, 1999.
[0019676]10264.Satoh, S.; Daigo, Y.; Furukawa, Y.; Kato, T.; Miwa, N.; Nishiwaki, T.; Kawasoe, T.; Ishiguro, H.; Fujita, M.; Tokino, T.; Sasaki, Y.; Imaoka, S.; Murata, M.; Shimano, T.; Yamaoka, Y.; Nakamura, Y.: AXIN1 mutations in hepatocellular carcinomas, and growth suppression in cancer cells by virus-mediated transfer of AXIN1. Nature Genet. 24: 245-250, 2000.
[0019677]10265.Zeng, L.; Fagotto, F.; Zhang, T.; Hsu, W.; Vasicek, T. J.; Perry, W. L., III; Lee, J. J.; Tilghman, S. M.; Gumbiner, B. M.; Costantini, F.: The mouse fused locus encodes axin, an inhibitor of the Wnt signaling pathway that regulates embryonic axis formation. Cell 90: 181-192, 1997.
[0019678]10266.Andreev, J.; Simon, J.-P.; Sabatini, D. D.; Kam, J.; Plowman, G.; Randazzo, P. A.; Schlessinger, J.: Identification of a new Pyk2 target protein with Arf-GAP activity. Molec. Cell. Biol. 19: 2338-2350, 1999.
[0019679]10267.Burden, S.; Yarden, Y.: Neuregulins and their receptors: a versatile signaling module in organogenesis and oncogenesis. Neuron 18: 847-855, 1997.
[0019680]10268.Busfield, S. J.; Michnick, D. A.; Chickering, T. W.; Revett, T. L.; Ma, J.; Woolf, E. A.; Comrack, C. A.; Dussault, B. J.; Woolf, J.; Goodearl, A. D. J.; Gearing, D. P.: Characterization of a neuregulin-related gene, Don-1, that is highly expressed in restricted regions of the cerebellum and hippocampus. Molec. Cell. Biol. 17: 4007-4014, 1997.
[0019681]10269.Carraway, K. L., III; Weber, J. L.; Unger, M. J.; Ledesma, J.; Yu, N.; Gassmann, M.; Lai, C.: Neuregulin-2, a new ligand of ErbB3/ErbB4-receptor tyrosine kinases. Nature 387: 512-516, 1997.
[0019682]10270.Chang, H.; Riese, D. J., II; Gilbert, W.; Stern, D. F.; McMahan, U. J.: Ligands for ErbB-family receptors encoded by a neuregulin-like gene. Nature 387: 509-512, 1997.
[0019683]10271.Ring, H. Z.; Chang, H.; Guilbot, A.; Brice, A.; LeGuern, E.; Francke, U.: The human neuregulin-2 (NRG2) gene: cloning, mapping and evaluation as a candidate for the autosomal recessive form of Charcot-Marie-Tooth disease linked to 5q. Hum. Genet. 104: 326-332, 1999.
[0019684]10272.Yamada, K.; Ichino, N.; Nishii, K.; Sawada, H.; Higashiyama, S.; Ishiguro, H.; Nagatsu, T.: Characterization of the human NTAK gene structure and distribution of the isoforms for rat NTAK mRNA. Gene 255: 15-24, 2000.
[0019685]10273.Yokoyama, M.; Nishi, Y.; Yoshii, J.; Okubo, K.; Matsubara, K.: Identification and cloning of neuroblastoma-specific and nerve tissue-specific genes through compiled expression profiles. DNA Res. 3: 311-320, 1996.
[0019686]10274.Hu, R.-J.; Lee, M. P.; Connors, T. D.; Johnson, L. A.; Burn, T. C.; Su, K.; Landes, G. M.; Feinberg, A. P.: A 2.5-Mb transcript map of a tumor-suppressing subchromosomal transferable fragment from 11p15.5, and isolation and sequence analysis of three novel genes. Genomics 46: 9-17, 1997.
[0019687]10275.Stephan, D.; Bon, C.; Holzwarth, J. A.; Galvan, M.; Pruss, R. M.: Human metabotropic glutamate receptor 1: mRNA distribution, chromosome localization and functional expression of two splice variants. Neuropharmacology 35: 1649-1660, 1996.
[0019688]10276.Chen, M. S.; Huber, A. B.; van der Haar, M. E.; Frank, M.; Schnell, L.; Spillmann, A. A.; Christ, F.; Schwab, M. E.: Nogo-A is a myelin-associated neurite outgrowth inhibitor and an antigen for monoclonal antibody IN-1. Nature 403: 434-439, 2000.
[0019689]10277.Fournier, A. E.; GrandPre, T.; Strittmatter, S. M.: Identification of a receptor mediating Nogo-66 inhibition of axonal regeneration. Nature 409: 341-346, 2001.
[0019690]10278.GrandPre, T.; Li, S.; Strittmatter, S. M.: Nogo-66 receptor antagonist peptide promotes axonal regeneration. Nature 417: 547-551, 2002.
[0019691]10279.GrandPre, T.; Nakamura, F.; Vartanian, T.; Strittmatter, S. M. : Identification of the Nogo inhibitor of axon regeneration as a reticulon protein. Nature 403: 439-444, 2000.
[0019692]10280.Prinjha, R.; Moore, S. E.; Vinson, M.; Blake, S.; Morrow, R.; Christie, G.; Michalovich, D.; Simmons, D. L.; Walsh, F. S.: Inhibitor of neurite outgrowth in humans. (Letter) Nature 403: 383-384, 2000.
[0019693]10281.Spillmann, A. A.; Bandtlow, C. E.; Lottspeich, F.; Keller, F.; Schwab, M. E.: Identification and characterization of a bovine neurite growth inhibitor (bNI-220). J. Biol. Chem. 273: 19283-19293, 1998.
[0019694]10282.Yang, J.; Yu, L.; Bi, A. D.; Zhao, S.-Y.: Assignment of the human reticulon 4 gene (RTN4) to chromosome 2p14-2p13 by radiation hybrid mapping. Cytogenet. Cell Genet. 88: 101-102, 2000.
[0019695]10283.Korner, C. G.; Wahle, E.: Poly(A) tail shortening by a mammalian poly(A)-specific 3-prime-exoribonuclease. J. Biol. Chem. 272: 10448-10456, 1997.
[0019696]10284.Korner, C. G.; Wormington, M.; Muckenthaler, M.; Schneider, S.; Dehlin, E.; Wahle, E.: The deadenylating nuclease (DAN) is involved in poly(A) tail removal during the meiotic maturation of Xenopus oocytes. EMBO J. 17: 5427-5437, 1998.
[0019697]10285.Dear, T. N.; Moller, A.; Boehm, T.: CAPN11: a calpain with high mRNA levels in testis and located on chromosome 6. Genomics 59: 243-247, 1999.
[0019698]10286.Ai, Y.; Jenkins, N. A.; Copeland, N. G.; Gilbert, D. J.; Bergsma, D. J.; Stambolian, D.: Mouse galactokinase: isolation, characterization, and location on chromosome 11. Genome Res. 5: 53-59, 1995.
[0019699]10287.Ai, Y.; Zheng, Z.; O'Brien-Jenkins, A.; Bernard, D. J.; Wynshaw-Boris, T.; Ning, C.; Reynolds, R.; Segal, S.; Huang, K.; Stambolian, D.: A mouse model of galactose-induced cataracts. Hum. Molec. Genet. 9: 1821-1827, 2000.
[0019700]10288.Bergsma, D. J.; Ai, Y.; Skach, W. R.; Nesburn, K.; Anoia, E.; Van Horn, S.; Stambolian, D.: Fine structure of the human galactokinase GALK1 gene. Genome Res. 6: 980-985, 1996.
[0019701]10289.Croce, C. M.; Huebner, K.; Koprowski, H.: Chromosome assignment of the T-antigen gene of simian virus 40 in African green monkey cells transformed by adeno 7-SV 40 hybrid. Proc. Nat. Acad. Sci. 71: 4116-4119, 1974.
[0019702]10290.de Jonge, A. J. R.; de Smit, S.; Kroos, M. A.; Reuser, A. J. J. : Cotransfer of syntenic human genes into mouse cells using isolated metaphase chromosomes or cellular DNA. Hum. Genet. 69: 32-38, 1985.
[0019703]10291.Elsevier, S. M.; Kucherlapati, R. S.; Nichols, E. A.; Willecke, K.; Creagan, R. P.; Giles, R. E.; McDougall, J. K.; Ruddle, F. H. : Assignment and regional localization of a gene coding for galactokinase to human chromosome 17q21-22. Birth Defects Orig. Art. Ser. 11(3): 117-119, 1975. Note: Alternate: Cytogenet. Cell Genet. 14: 287-289, 1975.
[0019704]10292.Klobutcher, L. A.; Ruddle, F. H.: Phenotype stabilisation and integration of transferred material in chromosome-mediated gene transfer. Natur e 280: 657-660, 1979.
[0019705]10293.Kolosha, V.; Anoia, E.; de Cespedes, C.; Gitzelmann, R.; Shih, L.; Casco, T.; Saborio, M.; Trejos, R.; Buist, N.; Tedesco, T.; Skach, W.; Mitelmann, O.; Ledee, D.; Huang, K.; Stambolian, D.: Novel mutations in 13 probands with galactokinase deficiency. Hum. Mutat. 15: 447-453, 2000.
[0019706]10294.Okajima, K.; Yazaki, M.; Wada, Y.: Thymidine kinase activity in individuals with galactokinase deficiency. (Letter) Am. J. Hum. Genet. 41: 503-504, 1987.
[0019707]10295.Okano, Y.; Asada, M.; Fujimoto, A.; Ohtake, A.; Murayama, K.; Hsiao, K.-J.; Choeh, K.; Yang, Y.; Cao, Q.; Reichardt, J. K. V.; Niihira, S.; Imamura, T.; Yamano, T.: A genetic factor for agerelated cataract: identification and characterization of a novel galactokinase variant, 'Osaka,' in Asians. Am. J. Hum. Genet. 68: 1036-1042, 2001.
[0019708]10296.Ruddle, F. H.: Personal Communication. New Haven, Conn. 5/4/1982.
[0019709]10297.Schoen, R. C.; Cox, S. H.; Wagner, R. P.: Thymidine-kinase activity of cultured cells from individuals with inherited galactokinase deficiency. Am. J. Hum. Genet. 36: 815-822, 1984.
[0019710]10298.O'Mahoney, J. V.; Guven, K. L.; Lin, J.; Joya, J. E.; Robinson, C. S.; Wade, R. P.; Hardeman, E. C.: Identification of a novel slow-muscle-fiber enhancer binding protein, MusTRD1. Molec. Cell. Biol. 18: 6641-6652, 1998.
[0019711]10299.Osborne, L. R.; Campbell, T.; Daradich, A.; Scherer, S. W.; Tsui, L.-C.: Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome. Genomics 57: 279-284, 1999.
[0019712]10300.Tassabehji, M.; Carette, M.; Wilmot, C.; Donnai, D.; Read, A. P.; Metcalfe, K.: A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome. Europ. J. Hum. Genet. 7: 737-747, 1999.
[0019713]10301.Schmidt, A.; Wolde, M.; Thiele, C.; Fest, W.; Kratzin, H.; Podtelejnikov, A. V.; Witke, W.; Huttner, W. B.; Soling, H.-D.: Endophilin I mediates synaptic vesicle formation by transfer of arachidonate to lysophosphatidic acid. Nature 401: 133-141, 1999.
[0019714]10302.Bahr, A.; Hankeln, T.; Fiedler, T.; Hegemann, J.; Schmidt, E. R. : Molecular analysis of METTL1, a novel human methyltransferase-like gene with a high degree of phylogenetic conservation. Genomics 57: 424-428, 1999.
[0019715]10303.Aiba, A.; Chen, C.; Herrup, K.; Rosenmund, C.; Stevens, C. F.; Tonegawa, S.: Reduced hippocampal long-term potentiation and context-specific deficit in associative learning in mGluR1 mutant mice. Cell 79: 365-375, 1994.
[0019716]10304.Aiba, A.; Kano, M.; Chen, C.; Stanton, M. E.; Fox, G. D.; Herrup, K.; Zwingman, T. A.; Tonegawa, S.: Deficient cerebellar long-term depression and impaired motor learning in mGluR1 mutant mice. Cell 79: 377-388, 1994.
[0019717]10305.Conquet, F.; Bashir, Z. I.; Davies, C. H.; Daniel, H.; Ferraguti, F.; Bordi, F.; Franz-Bacon, K.; Reggiani, A.; Matarese, V.; Conde, F.; Collingridge, G. L.; Crepel, F.: Motor deficit and impairment of synaptic plasticity in mice lacking mGluR1. Nature 372: 237-243, 1994.
[0019718]10306.Ganesh, S.; Amano, K.; Yamakawa, K.: Assignment of the gene GRM1 coding for metabotropic glutamate receptor 1 to human chromosome band 6q24 by in situ hybridization. Cytogenet. Cell Genet. 88: 314-315, 2000.
[0019719]10307.Ichise, T.; Kano, M.; Hashimoto, K.; Yanagihara, D.; Nakao, K.; Shigamoto, R.; Katsuki, M.; Alba, A.: mGluR1 in cerebellar Purkinje cells essential for long-term depression, synapse elimination, and motor coordination. Science 288: 1832-1835, 2000.
[0019720]10308.Kunishima, N.; Shimada, Y.; Tsuji, Y.; Sato, T.; Yamamoto, M.; Kumasaka, T.; Nakanishi, S.; Jingami, H.; Morikawa, K.: Structural basis of glutamate recognition by a dimeric metabotropic glutamate receptor. Nature 407: 971-977, 2000.
[0019721]10309.Okamoto, T.; Sekiyama, N.; Otsu, M.; Shimada, Y.; Sato, A.; Nakanishi, S.; Jingami, H.: Expression and purification of the extracellular ligand binding region of metabotropic glutamate receptor subtype 1. J. Biol. Chem. 273: 13089-13096, 1998.
[0019722]10310.Smitt, P. S.; Kinoshita, A.; De Leeuw, B.; Moll, W.; Coesmans, M.; Jaarsma, D.; Henzen-Logmans, S.; Vecht, C.; De Zeeuw, C.; Sekiyama, N.; Nakanishi, S.; Shigemoto, R.: Paraneoplastic cerebellar ataxia due to autoantibodies against a glutamate receptor. New Eng. J. Med. 342: 21-27, 2000.
[0019723]10311.Nagase, T.; Ishikawa, K.; Suyama, M.; Kikuno, R.; Hirosawa, M.; Miyajima, N.; Tanaka, A.; Kotani, H.; Nomura, N.; Ohara, O.: Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. DNA Res. 5: 355-364, 1998.
[0019724]10312.Chadwick, B. P.; Kidd, T.; Sgouros, J.; Ish-Horowicz, D.; Frischauf, A.-M.: Cloning, mapping and expression of UBL3, a novel ubiquitin-like gene. Gene 233: 189-195, 1999.
[0019725]10313.Hodges, M.; Tissot, C.; Freemont, P. S. Protein regulation: tag wrestling with relatives of ubiquitin. Curr. Biol. 8: R749-R752, 1998.
[0019726]10314.Tanaka, H.; Arakawa, H.; Yamaguchi, T.; Shiraishi, K.; Fukuda, S.; Matsui, K.; Takei, Y.; Nakamura, Y.: A ribonucleotide reductase gene involved in a p53-dependent cell-cycle checkpoint for DNA damage. Nature 404: 42-49, 2000.
[0019727]10315.Bora, R. S.; Kanamori, A.; Hirabayashi, Y.: Assignment of a putative acetyl-CoA transporter gene (Acatn) to mouse chromosome band 3E1-E3 by in situ hybridization. Cytogenet. Cell Genet. 83: 78-79, 1998.
[0019728]10316.Veitia, R. A.; Ottolenghi, C.; Bissery, M.-C.; Fellous, A.: A novel human gene, encoding a potential membrane protein conserved from yeast to man, is strongly expressed in testis and cancer cell lines. Cytogenet. Cell Genet. 85: 217-220, 1999.
[0019729]10317.Andree, B.; Hillemann, T.; Kessler-Ieckson, G.; Schmitt-John, T.; Jockusch, H.; Arnold, H.-H.; Brand, T.: Isolation and characterization of the novel Popeye gene family expressed in skeletal muscle and heart. Dev. Biol. 223: 371-382, 2000.
[0019730]10318.DeYoung, K. L.; Ray, M. E.; Su, Y. A.; Anzick, S. L.; Johnstone, R. W.; Trapani, J. A.; Meltzer, P. S.; Trent, J. M.: Cloning a novel member of the human interferon-inducible gene family associated with control of tumorigenicity in a model of human melanoma. Oncogene 15: 453-457, 1997.
[0019731]10319.Kirikoshi, H.; Sagara, N.; Koike, J.; Tanaka, K.; Sekihara, H.; Hirai, M.; Katoh, M.: Molecular cloning and characterization of human frizzled-4 on chromosome 11q14-q21. Biochem. Biophys. Res. Commun. 264: 955-961, 1999.
[0019732]10320.Kowal, R. C.; Jolsin, J. M.; Olson, E. N.; Schultz, R. A.: Assignment of fibulin-5 (FBLN5) to human chromosome 14q31 by in situ hybridization and radiation hybrid mapping. Cytogenet. Cell Genet. 87: 2-3, 1999.
[0019733]10321.Nakamura, T.; Lozano, P. R.; Ikeda, Y.; Iwanaga, Y.; Hinek, A.; Minamisawa, S.; Cheng, C.-F.; Kobuke, K.; Dalton, N.; Takada, Y.; Tashiro, K.; Ross, J., Jr.; Honjo, T.; Chien, K. R.: Fibulin-5/DANCE is essential for elastogenesis in vivo. Nature 415: 171-175, 2002.
[0019734]10322.Nakamura, T.; Ruiz-Lozano, P.; Lindner, V.; Yabe, D.; Taniwaki, M.; Furukawa, Y.; Kobuke, K.; Tashiro, K.; Lu, Z.; Andon, N. L.; Schaub, R.; Matsumori, A.; Sasayama, S.; Chien, K. R.; Honjo, T.: DANCE, a novel secreted RGD protein expressed in developing, atherosclerotic, and ballooninjured arteries. J. Biol. Chem. 274: 22476-22483, 1999.
[0019735]10323.Yanagisawa, H.; Davis, E. C.; Starcher, B. C.; Ouchi, T.; Yanagisawa, M.; Richardson, J. A.; Olson, E. N.: Fibulin-5 is an elastin-binding protein essential for elastic fibre development in vivo. Nature 415: 168-171, 2002.
[0019736]10324.Robitaille, J.; MacDonald, M. L. E.; Kaykas, A.; Sheldahl, L. C.; Zeisler, J.; Dube, M.-P.; Zhang, L.-H.; Singaraja, R. R.; Guernsey, D. L.; Zhang, B.; Siebert, L. F.; Hoskin-Mott, A.; Trese, M. T.; Pimstone, S. N.; Shastry, B. S.; Moon, R. T.; Hayden, M. R.; Goldberg, Y. P.; Samuels, M. E.: Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. Nature Genet. 32: 326-330, 2002.
[0019737]10325.Banfi, S; . Bassi, M. T.; Andolfi, G.; Marchitiello, A.; Zanotta, S.; Ballabio, A.; Casari, G.; Franco, B.: Identification and characterization of AFG3L2, a novel paraplegin-related gene. Genomics 59: 51-58, 1999.
[0019738]10326.Dong, F.; Feldmesser, M.; Casadevall, A.; Rubin, C. S.: Molecular characterization of a cDNA that encodes six isoforms of a novel murine A kinase anchor protein. J. Biol. Chem. 273: 6533-6541, 1998.
[0019739]10327.Dent, A. L.; Yewdell, J.; Puvion-Dutilleul, F.; Koken, M. H.; de The, H.; Staudt, L. M.: LYSP100 associated nuclear domains (LANDs): description of a new class of subnuclear structures and their relationship to PML nuclear bodies. Blood 88: 1423-1426, 1996.
[0019740]10328.Seeler, J. S.; Marchio, A.; Sitterlin, D.; Transy, C.; Dejean, A.: Interaction of SP100 with HP1 proteins: a link between the promyelocytic leukemia-associated nuclear bodies and the chromatin compartment. Proc. Nat. Acad. Sci. 95: 7316-7321, 1998.
[0019741]10329.Edwards, M. C.; Wong, C.; Elledge, S. J.: Human cyclin K, a novel RNA polymerase II-associated cyclin possessing both carboxy-terminal domain kinase and Cdk-activating kinase activity. Molec. Cell. Biol. 18: 4291-4300, 1998.
[0019742]10330.Usami, S.; Abe, S.; Weston, M. D.; Shinkawa, H.; Van Camp, G.; Kimberling, W. J.: Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. Hum. Genet. 104: 188-192, 1999.
[0019743]10331.Scanlan, M. J.; Chen, Y.-T.; Williamson, B.; Gure, A. O.; Stockert, E.; Gordan, J. D.; Tureci, O.; Sahin, U.; Pfreundschuh, M.; Old, L. J.: Characterization of human colon cancer antigens recognized by autologous antibodies. Int. J. Cancer 76: 652-658, 1998.
[0019744]10332.Halford, S.; Dulai, K. S.; Daw, S. C.; Fitzgibbon, J.; Hunt, D. M.: Isolation and chromosomal localization of two human CDP-diacylglycerol synthase (CDS) genes. Genomics 54: 140-144, 1998.
[0019745]10333.Heacock, A. M.; Uhler, M. D.; Agranoff, B. W.: Cloning of CDP-diacylglycerol synthase from a human neuronal cell line. J. Neurochem. 67: 2200-2203, 1996.
[0019746]10334.Weeks, R.; Dowhan, W.; Shen, H.; Balantac, N.; Meengs, B.; Nudelman, E.; Leung, D. W.: Isolation and expression of an isoform of human CDP-diacylglycerol synthase cDNA. DNA Cell Biol. 16: 281-289, 1997.
[0019747]10335.Volta, M.; Bulfone, A.; Gattuso, C.; Rossi, E.; Mariani, M.; Consalez, G. G.; Zuffardi, O.; Ballabio, A.; Banfi, S.; Franco, B.: Identification and characterization of CDS2, a mammalian homolog of the Drosophila CDP-diacylglycerol synthase gene. Genomics 55: 68-77, 1999.
[0019748]10336.Borsani, G.; DeGrandi, A.; Ballabio, A.; Bulfone, A.; Bernard, L.; Banfi, S.; Gattuso, C.; Mariani, M.; Dixon, M.; Donnai, D.; Metcalfe, K.; Winter, R.; Robertson, M.; Axton, R.; Brown, A.; van Heyningen, V.; Hanson, I.: EYA4, a novel vertebrate gene related to Drosophila eyes absent. Hum. Molec. Genet. 8: 11-23, 1999.
[0019749]10337.Kanamori, A.; Nakayama, J.; Fukuda, M. N.; Stallcup, W. B.; Sasaki, K.; Fukuda, M.; Hirabayashi, Y.: Expression cloning and characterization of a cDNA encoding a novel membrane protein required for the formation of O-acetylated ganglioside: a putative acetyl-CoA transporter. Proc. Nat. Acad. Sci. 94: 2897-2902, 1997.
[0019750]10338.Paavola, P.; Horelli-Kuitunen, N.; Palotie, A.; Peltonen, L.: Characterization of a novel gene, PNUTL2, on human chromosome 17q22-q23 and its exclusion as the Meckel syndrome gene. Genomics 55: 122-125, 1999.
[0019751]10339.Gregory, C. A.; Zabel, B.; Grant, M. E.; Boot-Handford, R. P.; Wallis, G. A.: Equal expression of type X collagen mRNA from mutant and wild type COL10A1 alleles in growth plate cartilage from a patient with metaphyseal chondrodysplasia type Schmid. (Letter) J. Med. Genet. 37: 627-629, 2000.
[0019752]10340.Tedesco, F.; Roncelli, L.; Petersen, B. H.; Agnello, V.; Sodetz, J. M.: Two distinct abnormalities in patients with C8-alpha-gamma deficiency: low level of C8-beta chain and presence of dysfunctional C8-alpha-gamma subunit. J. Clin. Invest. 86: 884-888, 1990.
[0019753]10341.Box, N. F.; Duffy, D. L.; Chen, W.; Stark, M.; Martin, N. G.; Sturm, R. A.; Hayward, N. K.: MC1R genotype modifies risk of melanoma in families segregating CDKN2A mutations. Am. J. Hum. Genet. 69: 765-773, 2001.
[0019754]10342.Box, N. F.; Wyeth, J. R.; O'Gorman, L. E.; Martin, N. G.; Sturm, R. A.: Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair. Hum. Molec. Genet. 6: 1891-1897, 1997.
[0019755]10343.Chhajlani, V.; Wikberg, J. E. S.: Molecular cloning and expression of the human melanocyte stimulating hormone receptor cDNA. FEBS Lett. 309: 417-420, 1992.
[0019756]10344.Flanagan, N.; Healy, E.; Ray, A.; Philips, S.; Todd, C.; Jackson, I. J.; Birch-Machin, M. A.; Rees, J. L.: Pleiotropic effects of the melanocortin 1 receptor (MC1R) gene on human pigmentation. Hum. Molec. Genet. 9: 2531-2537, 2000.
[0019757]10345.Frandberg, P.-A.; Doufexis, M.; Kapas, S.; Chhajlani, V.: Human pigmentation phenotype: a point mutation generates nonfunctional MSH receptor. Biochem. Biophys. Res. Commun. 245: 490-492, 1998.
[0019758]10346.Gantz, I.; Yamada, T.; Tashiro, T.; Konda, Y.; Shimoto, Y.; Miwa, H.; Trent, J. M.: Mapping of the gene encoding the melanocortin-1 (alpha-melanocyte stimulating hormone) receptor (MC1R) to human chromosome 16q24.3 by fluorescence in situ hybridization. Genomics 19: 394-395, 1994.
[0019759]10347.Healy, E.; Flannagan, N.; Ray, A.; Todd, C.; Jackson, I. J.; Matthews, J. N. S.; Birch-Machin, M. A.; Rees, J. L.: Melanocortin-1-receptor gene and sun sensitivity in individuals without red hair. Lancet 355: 1072-1073, 2000.
[0019760]10348.Healy, E.; Jordan, S. A.; Budd, P. S.; Suffolk, R.; Rees, J. L.; Jackson, I. J.: Functional variation of MC1R alleles from red-haired individuals. Hum. Molec. Genet. 10: 2397-2402, 2001.
[0019761]10349.Jackson, I. J.: Colour-coded switches. Nature 362: 587-588, 1993.
[0019762]10350.Joerg, H.; Fries, H. R.; Meijerink, E.; Stranzinger, G. F.: Red coat color in Holstein cattle is associated with a deletion in the MSHR gene. Mammalian Genome 7: 317-318, 1996.
[0019763]10351.Johansson, M.; Marklund, L.; Sandberg, K.; Andersson, L.: Cosegregation between the chestnut coat colour in horses and polymorphisms at the melanocyte stimulating hormone (MSH) receptor locus. (Abstract) Animal Genet. 25 (Suppl. 2): 35 only, 1994.
[0019764]10352.John, P. R.; Ramsay, M.: Four novel variants in MC1R in red-haired South African individuals of European descent: S83P, Y152X, A171D, P256S. (Abstract) Hum. Mutat. 19: 461-462, 2002.
[0019765]10353.Klungland, H.; Vage, D. I.; Gomez-Raya, L.; Adalsteinsson, S.; Lien, S.: The role of melanocyte-stimulating hormone (MSH) receptor in bovine coat color determination. Mammalian Genome 6: 636-639, 1995.
[0019766]10354.Koppula, S. V.; Robbins, L. S.; Lu, D.; Baack, E.; White, C. R., Jr.; Swanson, N. A.; Cone, R. D.: Identification of common polymorphisms in the coding sequence of the human MSH receptor (MCIR) with possible biological effects. Hum. Mutat. 9: 30-36, 1997.
[0019767]10355.Marklund, L.; Johansson Moller, M.; Sandberg, K.; Andersson, L. : A missense mutation in the gene for melanocyte-stimulating hormone receptor (MC1R) is associated with the chestnut coat color in horses. Mammalian Genome 7: 895-899, 1996.
[0019768]10356.Mountjoy, K. G.; Robbins, L. S.; Mortrud, M. T.; Cone, R. D.: The cloning of a family of genes that encode the melanocortin receptors. Science 257: 1248-1251, 1992.
[0019769]10357.Palmer, J. S.; Duffy, D. L.; Box, N. F.; Aitken, J. F.; O'Gorman, L. E.; Green, A. C.; Hayward, N. K.; Martin, N. G.; Sturm, R. A.: Melanocortin-1 receptor polymorphisms and risk of melanoma: is the association explained solely by pigmentation phenotype? Am. J. Hum. Genet. 66: 176-186, 2000.
[0019770]10358.Robbins, L. S.; Nadeau, J. H.; Johnson, K. R.; Kelly, M. A.; Roselli-Rehfuss, L.; Baack, E.; Mountjoy, K. G.; Cone, R. D.: Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function. Cell 72: 827-834, 1993.
[0019771]10359.Savov, A.; Angelicheva, D.; Balassopoulou, A.; Jordanova, A.; Noussia-Arvanitakis, S.; Kalaydjieva, L.: Double mutant alleles: are they rare? Hum. Molec. Genet. 4: 1169-1171, 1995.
[0019772]10360.Schioth, H. B.; Phillips, S. R.; Rudzish, R.; Birch-Machin, M. A.; Wikberg, J. E. S.; Rees, J. L.: Loss of function mutations of the human melanocortin 1 receptor are common and are associated with red hair. Biochem. Biophys. Res. Commun. 260: 488-491, 1999.
[0019773]10361.Smith, R.; Healy, E.; Siddiqui, S.; Flanagan, N.; Steijlen, P. M.; Rosdahl, I.; Jacques, J. P.; Rogers, S.; Turner, R.; Jackson, I. J.; Birch-Machin, M. A.; Rees, J. L.: Melanocortin 1 receptor variants in an Irish population. J. Invest. Derm. 111: 119-122, 1998.
[0019774]10362.Theriault, A.; Boyd, E.; Whaley, K.; Sodetz, J. M.; Connor, J. M.: Regional chromosomal assignment of genes encoding the alpha and beta subunits of human complement protein c8 to 1p32. (Abstract) Cytogenet. Cell Genet. 58: 1864 only, 1991.
[0019775]10363.Theriault, A.; Boyd, E.; Whaley, K.; Sodetz, J. M.; Connor, J. M.: Regional chromosomal assignment of genes encoding the alpha and beta subunits of human complement protein C8 to 1p32. Hum. Genet. 88: 703-704, 1992.
[0019776]10364.Zhang, L.; Rittner, C.; Sodetz, J. M.; Schneider, P. M.; Kaufmann, T.: The eighth component of human complement: molecular basis of C8A (C81) polymorphism. Hum. Genet. 96: 281-284, 1995.
[0019777]10365.Bahary, N.; Zorich, G.; Pachter, J. E.; Leibel, R. L.; Friedman, J. M.: Molecular genetic linkage maps of mouse chromosomes 4 and 6. Genomics 11: 33-47, 1991.
[0019778]10366.Ross, S. C.; Densen, P.: Complement deficiency states and infection: epidemiology, pathogenesis and consequences of neisserial and other infections in an immune deficiency. Medicine 63: 243-273, 1984.
[0019779]10367.Arnaout, M. A.; Gupta, S. K.; Pierce, M. W.; Tenen, D. G.: Amino acid sequence of the alpha subunit of human leukocyte adhesion receptor Mo1 (complement receptor type 3). J. Cell Biol. 106: 2153-2158, 1988.
[0019780]10368.Arnaout, M. A.; Remold-O'Donnell, E.; Pierce, M. W.; Harris, P.; Tenen, D. G.: Molecular cloning of the alpha-subunit of human and guinea pig leukocyte adhesion glycoprotein Mo1: chromosomal localization and homology to the alpha-subunits of integrins. Proc. Nat. Acad. Sci. 85: 2776-2780, 1988.
[0019781]10369.Callen, D. F.; Chen, L. Z.; Nancarrow, J.; Whitmore, S. A.; Apostolou, S.; Thompson, A. D.; Lane, S. A.; Stallings, R. L.; Hildebrand, C. E.; Harris, P. G.; Sutherland, G. R.: Current state of the physical map of human chromosome 16. (Abstract) Cytogenet. Cell Genet. 58: 1998 only, 1991.
[0019782]10370.Corbi, A. L.; Kishimoto, T. K.; Miller, L. J.; Springer, T. A. : The human leukocyte adhesion glycoprotein Mac-1 (complement receptor type 3, CD11b) alpha subunit: cloning, primary structure, and relation to the integrins, von Willebrand factor and factor B. J. Biol. Chem. 263: 12403-12411, 1988.
[0019783]10371.Corbi, A. L.; Larson, R. S.; Kishimoto, T. K.; Springer, T. A.; Morton, C. C.: Chromosomal location of the genes encoding the leukocyte adhesion receptors LFA-1, Mac-1 and p150,95: identification of a gene cluster involved in cell adhesion. J. Exp. Med. 167: 1597-1607, 1988.
[0019784]10372.Pierce, M. W.; Remold-O'Donnell, E.; Todd, R. F., III; Arnaout, M. A.: N-terminal sequence of human leukocyte glycoprotein Mo1: conservation across species and homology to platelet IIb/IIIa. Biochim. Biophys. Acta 874: 368-371, 1986.
[0019785]10373.Simon, D. I.; Chen, Z.; Seifert, P.; Edelman, E. R.; Ballantyne, C. M.; Rogers, C.: Decreased neointimal formation in Mac-1 -/- mice reveals a role for inflammation in vascular repair after angioplasty. J. Clin. Invest. 105: 293-300, 2000.
[0019786]10374.Springer, T. A.; Teplow, D. B.; Dreyer, W. J.: Sequence homology of the LFA-1 and Mac-1 leukocyte adhesion glycoproteins and unexpected relation to leukocyte interferon. Nature 314: 540-542, 1985.
[0019787]10375.Brady, J. P.; Garland, D.; Duglas-Tabor, Y.; Robison, W. G., Jr.; Groome, A.; Wawrousek, E. F.: Targeted disruption of the mouse alpha A-crystallin gene induces cataract and cytoplasmic inclusion bodies containing the small heat shock protein alpha B-crystallin. Proc. Nat. Acad. Sci. 94: 884-889, 1997.
[0019788]10376.Brakenhoff, R. H.; Henskens, H. A. M.; van Rossum, M. W. P. C.; Lubsen, N. H.; Schoenmakers, J. G. G.: Activation of the gamma E-crystallin pseudogene in the human hereditary Coppock-like cataract. Hum. Molec. Genet. 3: 279-283, 1994.
[0019789]10377.Cartier, M.; Breitman, M. L.; Tsui, L.-C.: A frameshift mutation in the gamma-Ecrystallin gene of the Elo mouse. Nature Genet. 2: 42-45, 1992.
[0019790]10378.Cobb, B. A.; Petrash, J. M.: Structural and functional changes in the alpha-A-crystallin R116C mutant in hereditary cataracts. Biochemistry 39: 15791-15798, 2000.
[0019791]10379.de Jong, W. W.; Hendriks, W.: The eye lens crystallins: ambiguity as evolutionary strategy. J. Molec. Evol. 24: 121-129, 1986.
[0019792]10380.Hawkins, J. W.; Van Keuren, M. L.; Piatigorsky, J.; Law, M. L.; Patterson, D.; Kao, F.-T.: Confirmation of assignment of the human alpha-1-crystallin gene (CRYA1) to chromosome 21 with regional localization to q22.3. Hum. Genet. 76: 375-380, 1987.
[0019793]10381.Jaworski, C. J.; Piatigorsky, J.: A pseudo-exon in the functional human alpha-Acrystallin gene. Nature 337: 752-754, 1989.
[0019794]10382.Kaye, N. W.; Lalley, P. A.; Petrash, J. M.; Church, R. L.: Regional assignment of the mouse alpha-A2-crystallin gene (Crya-1) to chromosome 17A3-B by in situ hybridization. Cytogenet. Cell Genet. 53: 95-96, 1990.
[0019795]10383.Litt, M.; Kramer, P.; LaMorticella, D. M.; Murphey, W.; Lovrien, E. W.; Weleber, R. G.: Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA. Hum. Molec. Genet. 7: 471-474, 1998.
[0019796]10384.Moormann, R. J. M.; den Dunnen, J. T.; Bloemendal, H.; Schoenmakers, J. G. G.: Extensive intragenic sequence homology in two distinct rat lens gamma-crystallin cDNAs suggests duplications of a primordial gene. Proc. Nat. Acad. Sci. 79: 6876-6880, 1982.
[0019797]10385.Petersen, M. B.; Slaugenhaupt, S. A.; Lewis, J. G.; Warren, A. C.; Chakravarti, A.; Antonarakis, S. E.: A genetic linkage map of 27 markers on human chromosome 21. Genomics 9: 407-419, 1991.
[0019798]10386.Pras, E.; Frydman, M.; Levy-Nissenbaum, E.; Bakhan, T.; Raz, J.; Assia, E. I.; Goldman, B.; Pras, E.: A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family. Invest. Ophthal. Vis. Sci. 41: 3511-3515, 2000.
[0019799]10387.Quax-Jeuken, Y.; Quax, W.; van Rens, G.; Meera Khan, P.; Bloemendal, H.: Complete structure of the alpha-B-crystallin: conservation of the exon-intron distribution in the two nonlinked alpha-crystallin genes. Proc. Nat. Acad. Sci. 82: 5819-5823, 1985.
[0019800]10388.Quax-Jeuken, Y.; Quax, W.; van Rens, G.; Meera Khan, P.; Bloemendal, H.: Assignment of the human alpha-A-crystallin gene (CRYA1) to chromosome 21. (Abstract) Cytogenet. Cell Genet. 40: 727-728, 1985.
[0019801]10389.Schoffl, F.; Rascke, E.; Nagao, R. T.: The DNA sequence analysis of soybean heatshock genes and identification of possible regulatory promoter elements. EMBO J. 3: 2491-2497, 1984.
[0019802]10390.Skow, L. C.; Donner, M. E.: The locus encoding alpha-A-crystallin is closely linked to H-2K on mouse chromosome 17. Genetics 110: 723-732, 1985.
[0019803]10391.Skow, L. C.; Kunz, H. W.; Gill, T. J., III: Linkage of the locus encoding the A chain of alpha-crystallin (Acry-1) to the major histocompatibility complex in the rat. Immunogenetics 22: 291-293, 1985.
[0019804]10392.Wistow, G.: Domain structure and evolution in alpha-crystallins and small heat shock proteins. FEBS Lett. 181: 1-6, 1985.
[0019805]10393.Allen, E.; Yu, Q.-C.; Fuchs, E.: Mice expressing a mutant desmosomal cadherin exhibit abnormalities in desmosomes, proliferation, and epidermal differentiation. J. Cell Biol. 133: 1367-1382, 1996.
[0019806]10394.Amagai, M.; Klaus-Kovtun, V.; Stanley, J. R.: Autoantibodies against a novel epithelial cadherin in pemphigus vulgaris, a disease of cell adhesion. Cell 67: 869-877, 1991.
[0019807]10395.Koch, P. J.; Mahoney, M. G.; Ishikawa, H.; Pulkkinen, L.; Uitto, J.; Schultz, L.; Murphy, G. F.; Whitaker-Menezes, D.; Stanley, J. R.: Targeted disruption of the pemphigus vulgaris antigen (desmoglein 3) gene in mice causes loss of keratinocyte cell adhesion with a phenotype similar to pemphigus vulgaris. J. Cell Biol. 137: 1091-1102, 1997.
[0019808]10396.Rickman, L.; Simrak, D.; Stevens, H. P.; Hunt, D. M.; King, I. A.; Bryant, S. P.; Eady, R. A. J.; Leigh, I. M.; Arnemann, J.; Magee, A. I.; Kelsell, D. P.; Buxton, R. S.: N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma. Hum. Molec. Genet. 8: 971-976, 1999.
[0019809]10397.Simrak, D.; Cowley, C. M. E.; Buxton, R. S.; Arnemann, J.: Tandem arrangement of the closely linked desmoglein genes on human chromosome 18. Genomics 25: 591-594, 1995.
[0019810]10398.Wang, Y.; Amagai, M.; Minoshima, S.; Sakai, K.; Green, K. J.; Nishikawa, T.; Shimizu, N.: The human genes for desmogleins (DSG1 and DSG3) are located in a small region on chromosome 18q12. Genomics 20: 492-495, 1994.
[0019811]10399.Hunt, D. M.; Rickman, L.; Whittock, N. V.; Eady, R. A. J.; Simrak, D.; Dopping-Hepenstal, P. J. C.; Stevens, H. P.; Armstrong, D. K. B.; Hennies, H. C.; Kuster, W.; Hughes, A. E.; Arnemann, J.; Leigh, I. M.; McGrath, J. A.; Kelsell, D. P.; Buxton, R. S.: Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma. Europ. J. Hum. Genet. 9: 197-203, 2001.
[0019812]10400.Warren, S. J. P.; Lin, M.-S.; Giudice, G. J.; Hoffmann, R. G.; Hans-Filho, G.; Aoki, V.; Rivitti, E. A.; dos Santos, V.; Diaz, L. A.: The prevalence of antibodies against desmoglein 1 in endemic pemphigus foliaceus in Brazil. New Eng. J. Med. 343: 23-30, 2000.
[0019813]10401.Wu, H.; Wang, Z. H.; Yan, A.; Lyle, S.; Fakharzadeh, S.; Wahl, J. K.; Wheelock, M. J.; Ishikawa, H.; Uitto, J.; Amagai, M.; Stanley, J. R.: Protection against pemphigus foliaceus by desmoglein 3 in neonates. New Eng. J. Med. 343: 31-35, 2000.
[0019814]10402.Arnemann, J.; Spurr, N. K.; Magee, A. I.; Buxton, R. S.: The human gene (DSG2) coding for HDGC, a second member of the desmoglein subfamily of the desmosomal cadherins, is, like DSG1 coding for desmoglein DGI, assigned to chromosome 18. Genomics 13: 484-486, 1992.
[0019815]10403.Koch, P. J.; Goldschmidt, M. D.; Walsh, M. J.; Zimbelmann, R.; Franke, W. W.: Complete amino acid sequence of the epidermal desmoglein precursor polypeptide and identification of a second type of desmoglein gene. Europ. J. Cell Biol. 55: 200-208, 1991.
[0019816]10404.Inskip, A.; Elexperu-Camiruaga, J.; Buxton, N.; Dias, P. S.; MacIntosh, J.; Campbell, D.; Jones, P. W.; Yengi, L.; Talbot, J. A.; Strange, R. C.; Fryer, A. A.: Identification of polymorphism at the glutathione S-transferase, GSTM3 locus: evidence for linkage with GSTM1*A. Biochem. J. 312: 713-716, 1995.
[0019817]10405.Van Cong, N.; Laisney, V.; Gross, M. S.; Frezal, J.: Glutathione-S-transferases--tissues distribution, number of loci, polymorphism, chromosome localization. (Abstract) Cytogenet. Cell Genet. 37: 554, 1984.
[0019818]10406.Law, M. L.; Kao, F.-T.: Induced segregation of human syntenic genes by 5-bromodeoxyuridine plus near-visible light. Somat. Cell Genet. 4: 465-476, 1978.
[0019819]10407.Hopkinson, D. A.; Peters, J.; Harris, H.: Rare electrophoretic variants of glycerol-3-phosphate dehydrogenase: evidence for two structural gene loci (GPD-1 and GPD-2). Ann. Hum. Genet. 37: 477-484, 1974.
[0019820]10408.Kielty, C.; Povey, S.: Mapping of liver-specific enzymes: alpha-glycerophosphate dehydrogenase (GPD1) and others. (Abstract) Cytogenet. Cell Genet. 32: 290 only, 1982.
[0019821]10409.Menaya, J.; Gonzalez-Manchon, C.; Parrilla, R.; Ayuso, M. S.: Molecular cloning, sequencing and expression of a cDNA encoding a human liver NAD-dependent alpha-glycerol-3-phosphate dehydrogenase. Biochim. Biophys. Acta 1262: 91-94, 1995.
[0019822]10410.Prasad, R.; Zhadanov, A. B.; Sedkov, Y.; Bullrich, F.; Druck, T.; Rallapalli, R.; Yano, T.; Alder, H.; Croce, C. M.; Huebner, K.; Mazo, A.; Canaani, E.: Structure and expression pattern of human ALR, a novel gene with strong homology to ALL-1 involved in acute leukemia and to Drosophila trithorax. Oncogene 15: 549-560, 1997.
[0019823]10411.Brown, L. J.; Stoffel, M.; Moran, S.; Lehn, D. A.; Pomije, C.; Le Beau, M. M.; MacDonald, M. J.: Structure of the mitochondrial glycerol-3-phosphate dehydrogenase gene and mapping to chromosome 10412. (Abstract) Am. J. Hum. Genet. 57: A141 only, 1995. 2. Ferrer, J.; Aoki, M.; Behn, P.; Nestorowicz, A.; Riggs, A.; Permutt, M. A.: Mitochondrial glycerol-3-phosphate dehydrogenase: cloning of an alternatively spliced human islet-cell cDNA, tissue distribution, physical mapping, and identification of a polymorphic genetic marker. Diabetes 45: 262-266, 1996.
[0019824]10413.Novials, A.; Vidal, J.; Franco, C.; Ribera, F.; Sener, A.; Malaisse, W. J.; Gomis, R.: Mutation in the calcium-binding domain of the mitochondrial glycerophosphate dehydrogenase gene in a family of diabetic subjects. Biochem. Biophys. Res. Comm. 231: 570-572, 1997.
[0019825]10414.Shaw, M.-A.; Edwards, Y. H.; Hopkinson, D. A.: Human mitochondrial glycerol phosphate dehydrogenase (GPD-M) isozymes. Ann. Hum. Genet. 46: 11-23, 1982.
[0019826]10415.Hashimoto, S.; Chiorazzi, N.; Gregersen, P. K.: The complete sequence of the human CD79b (Ig-beta/B29) gene: identification of a conserved exon/intron organization, immunoglobulin-like regulatory regions, and allelic polymorphism. Immunogenetics 40: 145-149, 1994.
[0019827]10416.Hashimoto, S.; Gregersen, P. K.; Chiorazzi, N.: The human Ig-beta cDNA sequence, a homologue of murine B29, is identical in B cell and plasma cell lines producing all the human Ig isotypes. J. Immun. 150: 491-498, 1993.
[0019828]10417.Wood, W. J., Jr.; Thompson, A. A.; Korenberg, J.; Chen, X.; May, W.; Wall, R.; Denny, C. T.: Isolation and chromosomal mapping of the human immunoglobulin-associated B29 gene (IGB). Genomics 16: 187-192, 1993.
[0019829]10418.Okabe, I.; Nussbaum, R. L.: Identification and chromosomal mapping of the mouse inositol polyphosphate 1-phosphatase gene. Genomics 30: 358-360, 1995.
[0019830]10419.Woodcock, E. A.; Wang, B. H.; Arthur, J. F.; Lennard, A.; Matkovich, S. J.; Du, X.-J.; Brown, J. H.; Hannan, R. D.: Inositol polyphosphate 1-phosphatase is a novel antihypertrophic factor. J. Biol. Chem. 277: 22734-22742, 2002.
[0019831]10420.York, J. D.; Veile, R. A.; Donis-Keller, H.; Majerus, P. W.: Cloning, heterologous expression, and chromosomal localization of human inositol polyphosphate 1-phosphatase. Proc. Nat. Acad. Sci. 90: 5833-5837, 1993.
[0019832]10421.Matsumoto, M.; Nakagawa, T.; Inoue, T.; Nagata, E.; Tanaka, K.; Takano, H.; Minowa, O.; Kuno, J.; Sakakibara, S.; Yamada, M.; Yoneshima, H.; Miyawaki, A; Fukuichi, T.; Furuichi, T.; Okano, H.; Mikoshiba, K.; Noda, T.: Ataxia and epileptic seizures in mice lacking type 1 inositol 1,4,5-triphosphate receptor. Nature 379: 168-171, 1996.
[0019833]10422.Nucifora, F. C., Jr.; Li, S.-H.; Danoff, S.; Ullrich, A.; Ross, C. A.: Molecular cloning of a cDNA for the human inositol 1,4,5-trisphosphate receptor type 1, and the identification of a third alternatively spliced variant. Molec. Brain Res. 32: 291-296, 1995.
[0019834]10423.Bradham, D. M.; Igarashi, A.; Potter, R. L.; Grotendorst, G. R. : Connective tissue growth factor: a cysteine-rich mitogen secreted by human vascular endothelial cells is related to the SRCinduced immediate early gene product CEF-10. J. Cell Biol. 114: 1285-1294, 1991.
[0019835]10424.Aguilar-Salinas, C. A.; Reyes-Rodriguez, E.; Ordonez-Sanchez, M. L.; Torres, M. A.; Ramirez-Jimenez, S.; Dominguez-Lopez, A.; Martinez-Francois, J. R.; Velasco-Perez, M. L.; Alpizar, M.; Garcia-Garcia, E.; Gomez-Perez, F.; Rull, J.; Tusie-Luna, M. T.: Early-onset type 2 diabetes: metabolic and genetic characterization in the Mexican population. J. Clin. Endocr. Metab. 86: 220-226, 2001.
[0019836]10425.DerKinderen, D. J.; Koten, J. W.; Tan, K. E. W. P.; Beemer, F. A.; Van Romunde, L. K. J.; Den Otter, W.: Parental age in sporadic hereditary retinoblastoma. Am. J. Ophthal. 110: 605-609, 1990.
[0019837]10426.Orphanides, G.; Wu, W.-H.; Lane, W. S.; Hampsey, M.; Reinberg, D.: The chromatinspecific transcription elongation factor FACT comprises human SPT16 and SSRP1 proteins. Nature 400: 284-288, 1999.
[0019838]10427.Shi, Y.; Ullrich, S. J.; Zhang, J.; Connolly, K.; Grzegorzewski, K. J.; Barber, M. C.; Wang, W.; Wathen, K.; Hodge, V.; Fisher, C. L.; Olsen, H.; Ruben, S. M.; Knyazev, I.; Cho, Y. H.; Kao, V.; Wilkinson, K. A.; Carrell, J. A.; Ebner, R.: A novel cytokine receptor-ligand pair: identification, molecular characterization, and in vivo immunomodulatory activity. J. Biol. Chem. 275: 19167-19176, 2000.
[0019839]10428.Lee, H.-K.; Lee, Y.-K.; Park, S.-H.; Kim, Y.-S.; Park, S. H.; Lee, J. W.; Kwon, H.-B.; Soh, J.; Moore, D. D.; Choi, H.-S.: Structure and expression of the orphan nuclear receptor SHP gene. J. Biol. Chem. 273: 14398-14402, 1998.
[0019840]10429.Nishigori, H.; Tomura, H.; Tonooka, N.; Kanamori, M.; Yamada, S.; Sho, K.; Inoue, I.; Kikuchi, N.; Onigata, K.; Kojima, I.; Kohama, T.; Yamagata, K.; and 9 others: Mutations in the small heterodimer partner gene are associated with mild obesity in Japanese subjects. Proc. Nat. Acad. Sci. 98: 575-580, 2001.
[0019841]10430.Seol, W.; Choi, H.-S.; Moore, D. D.: An orphan nuclear hormone receptor that lacks a DNA binding domain and heterodimerizes with other receptors. Science 272: 1336-1339, 1996.
[0019842]10431.Friedman, L. S.; Ostermeyer, E. A.; Lynch, E. D.; Welcsh, P.; Szabo, C. I.; Meza, J. E.; Anderson, L. A.; Dowd, P.; Lee, M. K.; Rowell, S. E.; Ellison, J.; Boyd, J.; King, M.-C.: 22 genes from chromosome 17q21: cloning, sequencing, and characterization of mutations in breast cancer families and tumors. Genomics 25: 256-163, 1995.
[0019843]10432.Linial, M.; Miller, K.; Scheller, R. H.: VAT-1: an abundant membrane protein from Torpedo cholinergic synaptic vesicles. Neuron 2: 1265-1273, 1989.
[0019844]10433.Smith, T. M.; Lee, M. K.; Szabo, C. I.; Jerome, N.; McEuen, M.; Taylor, M.; Hood, L.; King, M.-C.: Complete genomic sequence and analysis of 117 kb of human DNA containing the gene BRCA1. Genome Res. 6: 1029-1049, 1996.
[0019845]10434.Echchakir, H.; Mami-Chouaib, F.; Vergnon, I.; Baurain, J.-F.; Karanikas, V.; Chouaib, S.; Coulie, P. G.: A point mutation in the alpha-actinin-4 gene generates an antigenic peptide recognized by autologous cytolytic T lymphocytes on a human lung carcinoma. Cancer Res. 61: 4078-4083, 2001.
[0019846]10435.Wieland, I.; Arden, K. C.; Michels, D.; Klein-Hitpass, L.; Bohm, M.; Viars, C. S.; Weidle, U. H.: Isolation of DICE1: a gene frequently affected by LOH and downregulated in lung carcinomas. Oncogene 18: 4530-4537, 1999.
[0019847]10436.Huebner, K.; Cannizzaro, L. A.; Nakamura, T.; Hillova, J.; Mariage-Samson, R.; Hecht, F.; Hill, M.; Croce, C. M.: A rearranged transforming gene, tre, is made up of human sequences derived from chromosome regions 5q, 17q and 18q. Oncogene 3: 449-455, 1988.
[0019848]10437.Nakamura, T.; Hillova, J.; Mariage-Samson, R.; Hill, M.: Molecular cloning of a novel oncogene generated by DNA recombination during transfection. Oncogene Res. 2: 357-370, 1988.
[0019849]10438.Nakamura, T.; Hillova, J.; Mariage-Samson, R.; Onno, M.; Huebner, K.; Cannizzaro, L. A.; Boghosian-Sell, L.; Croce, C. M.; Hill, M. : A novel transcriptional unit of the tre oncogene widely expressed in human cancer cells. Oncogene 7: 733-741, 1992.
[0019850]10439.Chen, H.; Rossier, C.; Morris, M. A.; Scott, H. S.; Gos, A.; Bairoch, A.; Antonarakis, S. E.: A testis-specific gene, TPTE, encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, and to chromosomes 15, 22, and Y. Hum. Genet. 105: 399-409, 1999.
[0019851]10440.Guipponi, M.; Tapparel, C.; Jousson, O.; Scamuffa, N.; Mas, C.; Rossier, C.; Hutter, P.; Meda, P.; Lyle, R.; Reymond, A.; Antonarakis, S. E.: The murine orthologue of the Golgi-localized TPTE protein provides clues to the evolutionary history of the human TPTE gene family. Hum. Genet. 109: 569-575, 2001.
[0019852]10441.Guipponi, M.; Yaspo, M.-L.; Riesselman, L.; Chen, H.; De Sario, A.; Roizes, G.; Antonarakis, S. E.: Genomic structure of a copy of the human TPTE gene which encompasses 87 kb on the short arm of chromosome 21. Hum. Genet. 107: 127-131, 2000.
[0019853]10442.Gruber, A. D.; Pauli, B. U.: Molecular cloning and biochemical characterization of a truncated, secreted member of the human family of Ca(2+)-activated Cl- channels. Biochim. Biophys. Acta 1444: 418-423, 1999.
[0019854]10443.Bause, E.; Bieberich, E.; Rolfs, A.; Volker, C.; Schmidt, B.: Molecular cloning and primary structure of Man(9)-mannosidase from human kidney. Eur. J. Biochem. 217: 535-540, 1993.
[0019855]10444.Tremblay, L. O; Campbell Dyke, N.; Herscovics, A.: Molecular cloning, chromosomal mapping and tissue-specific expression of a novel human alpha-1,2-mannosidase gene involved in Nglycan maturation. Glycobiology 8: 585-595, 1998.
[0019856]10445.Nakano, M.; Yoshiura, K.; Oikawa, M.; Miyoshi, O.; Yamada, K.; Kondo, S.; Miwa, N.; Soeda, E.; Jinno, Y.; Fujii, T.; Niikawa, N. : Identification, characterization and mapping of the human ZIS (zinc-finger, splicing) gene. Gene 225: 59-65, 1998.
[0019857]10446.Koch, M.; Olson, P. F.; Albus, A.; Jin, W.; Hunter, D. D.; Brunken, W. J.; Burgeson, R. E.; Champliaud, M. F.: Characterization and expression of the laminin gamma-3 chain: a novel, nonbasement membrane-associated, laminin chain. J. Cell Biol. 145: 605-617, 1999.
[0019858]10447.Szekely, A. M.; Chen, Y.-H.; Zhang, C.; Oshima, J.; Weissman, S. M.: Werner protein recruits DNA polymerase delta to the nucleolus. Proc. Nat. Acad. Sci. 97: 11365-11370, 2000.
[0019859]10448.Jedlitschky, G.; Cassidy, A. J.; Sales, M.; Pratt, N.; Burchell, B.: Cloning and characterization of a novel human olfactory UDP-glucuronosyltransferase. Biochem. J. 340: 837-843, 1999.
[0019860]10449.Lazard, D.; Zupko, K.; Poria, Y.; Nef, P.; Lazarovits, J.; Horn, S.; Khen, M.; Lancet, D.: Odorant signal termination by olfactory UDP glucuronosyl transferase. Nature 349: 790-793, 1991.
[0019861]10450.Baker, E.; Crawford, J.; Sutherland, G. R.; Freeman, C.; Parish, C. R.; Hulett, M. D.: Human HPA endoglycosidase heparanase. Chromosome Res. 7: 319 only, 1999.
[0019862]10451.Hulett, M. D.; Freeman, C.; Hamdorf, B. J.; Baker, R. T.; Harris, M. J.; Parish, C. R.: Cloning of mammalian heparanase, an important enzyme in tumor invasion and metastasis. Nature Med. 5: 803-809, 1999.
[0019863]10452.Kussie, P. H.; Hulmes, J. D.; Ludwig, D. L.; Patel, S.; Navarro, E. C.; Seddon, A. P.; Giorgio, N. A.; Bohlen, P: Cloning and functional expression of a human heparanase gene. Biochem. Biophys. Res. Commun. 261: 183-187, 1999.
[0019864]10453.Toyoshima, M.; Nakajima, M.: Human heparanase: purification, characterization, cloning, and expression. J. Biol. Chem. 274: 24153-24160, 1999.
[0019865]10454.Vlodavsky, I.; Friedmann, Y.; Elkin, M.; Aingorn, H.; Atzmon, R.; Ishai-Michaeli, R.; Bitan, M.; Pappo, O.; Peretz, T.; Michal, I.; Spector, L.; Pecker, I.: Mammalian heparanase: gene cloning, expression and function in tumor progression and metastasis. Nature Med. 5: 793-802, 1999.
[0019866]10455.Ikeda, A.; Ikeda, S.; Gridley, T.; Nishina, P. M.; Naggert, J. K.: Neural tube defects and neuroepithelial cell death in Tulp3 knockout mice. Hum. Molec. Genet. 10: 1325-1334, 2001.
[0019867]10456.Nishina, P. M.; North, M. A.; Ikeda, A.; Yan, Y.; Naggert, J. K. : Molecular characterization of a novel tubby gene family member, TULP3, in mouse and humans. Genomics 54: 215-220, 1998.
[0019868]10457.Wu, X.; Kekuda, R.; Huang, W.; Fei, Y.-J.; Leibach, F. H.; Chen, J.; Conway, S. J.; Ganapathy, V.: Identity of the organic cation transporter OCT3 as the extraneuronal monoamine transporter (uptake-2) and evidence for the expression of the transporter in the brain. J. Biol. Chem. 273: 32776-32786, 1998.
[0019869]10458.Seki, N.; Ohira, M.; Nagase, T.; Ishikawa, K.; Miyajima, N.; Nakajima, D.; Nomura, N.; Ohara, O.: Characterization of cDNA clones in size-fractionated cDNA libraries from human brain. DNA Res. 4: 345-349, 1997.
[0019870]10459.Sumoy, L.; Pluvinet, R.; Andreu, N.; Estivill, X.; Escarceller, M.: PACSIN 3 is a novel SH3 domain cytoplasmic adapter protein of the pacsin-syndapin-FAP52 gene family. Gene 262: 199-205, 2001.
[0019871]10460.Hubener, C.; Mincheva, A.; Lichter, P.; Schraven, B.; Bruyns, E. : Genomic organization and chromosomal localization of the human gene encoding the T-cell receptor-interacting molecule (TRIM). Immunogenetics 51: 154-158, 2000.
[0019872]10461.Bruyns, E.; Marie-Cardine, A.; Kirchgessner, H.; Sagolla, K.; Shevchenko, A.; Mann, M.; Autschbach, F.; Bensussan, A.; Meuer, S.; Schraven, B.: T cell receptor (TCR) interacting molecule (TRIM), a novel disulfide-linked dimer associated with the TCR-CD3-zeta complex, recruits intracellular signaling proteins to the plasma membrane. J. Exp. Med. 188: 561-575, 1998.
[0019873]10462.Zhao, R.; Qi, Y.; Chen, J.; Zhao, Z. J.: FYVE-DSP2, a FYVE domain-containing dual specificity protein phosphatase that dephosphorylates phosphotidylinositol (sic) 3-phosphate. Exp. Cell Res. 265: 329-338, 2001.
[0019874]10463.Cui, X.; De Vivo, I.; Slany, R.; Miyamoto, A.; Firestein, R.; Cleary, M. L.: Association of SET domain and myotubularin-related proteins modulates growth control. Nature Genet. 18: 331-337, 1998.
[0019875]10464.Mansour, S. J.; Herbrick, J.-A.; Scherer, S. W.; Melancon, P.: Human GBF1 is a ubiquitously expressed gene of the Sec7 domain family mapping to 10q24. Genomics 54: 323-327, 1998.
[0019876]10465.Frye, R. A.: Characterization of five human cDNAs with homology to the yeast SIR2 gene: Sir2-like proteins (sirtuins) metabolize NAD and may have protein ADP-ribosyltransferase activity. Biochem. Biophys. Res. Commun. 260: 273-279, 1999.
[0019877]10466.Aula, N.; Salomaki, P.; Timonen, R.; Verheijen, F.; Mancini, G.; Mansson, J.-E.; Aula, P.; Peltonen, L.: The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation. Am. J. Hum. Genet. 67: 832-840, 2000.
[0019878]10467.Biancheri, R.; Verbeek, E.; Rossi, A.; Gaggero, R.; Roccatagliata, L.; Gatti, R.; van Diggelen, O.; Verheijen, F. W.; Mancini, G. M. S.: An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease. Clin. Genet. 61: 443-447, 2002.
[0019879]10468.Belinsky, M. G.; Bain, L. J.; Balsara, B. B.; Testa, J. R.; Kruh, G. D.: Characterization of MOAT-C and MOAT-D, new members of the MRP/cMOAT subfamily of transporter proteins. J. Nat. Cancer Inst. 90: 1735-1741, 1998.
[0019880]10469.Fromm, M. F.; Leake, B.; Roden, D. M.; Wilkinson, G. R.; Kim, R. B.: Human MRP3 transporter: identification of the 5-prime flanking region, genomic organization and alternative splice variants. Biochim. Biophys. Acta 1415: 369-374, 1999.
[0019881]10470.Kiuchi, Y.; Suzuki, H.; Hirohashi, T.; Tyson, C. A.; Sugiyama, Y.: cDNA cloning and inducible expression of human multidrug resistance associated protein 3 (MRP3). FEBS Lett. 433: 149-152, 1998.
[0019882]10471.Konig, J.; Rost, D.; Cui, Y.; Keppler, D.: Characterization of the human multidrug resistance protein isoform MRP3 localized to the basolateral hepatocyte membrane. Hepatology 29: 1156-1163, 1999.
[0019883]10472.Kool, M.; van der Linden, M.; de Haas, M.; Scheffer, G. L.; de Vree, J. M. L.; Smith, A. J.; Jansen, G.; Peters, G. J.; Ponne, N.; Scheper, R. J.; Oude Elferink, R. P. J.; Baas, F.; Borst, P.: MRP3, an organic anion transporter able to transport anti-cancer drugs. Proc. Nat. Acad. Sci. 96: 6914-6919, 1999.
[0019884]10473.Ortiz, D. F.; Li, S.; Iyer, R.; Zhang, X.; Novikoff, P.; Arias, I. M.: MRP3, a new ATPbinding cassette protein localized to the canalicular domain of the hepatocyte. Am. J. Physiol. 276: G1493-G1500, 1999.
[0019885]10474.Scott, A. F.: Personal Communication. Baltimore, Md. 9/18/2000.
[0019886]10475.Cooper, M. P.; Machwe, A.; Orren, D. K.; Brosh, R. M.; Ramsden, D.; Bohr, V. A.: Ku complex interacts with and stimulates the Werner protein. Genes Dev. 14: 907-912, 2000.
[0019887]10476.Gangloff, S.; Soustelle, C.; Fabre, F.: Homologous recombination is responsible for cell death in the absence of the Sgs1 and Srs2 helicases. Nature Genet. 25: 192-194, 2000.
[0019888]10477.Huang, S.; Li, B.; Gray, M. D.; Oshima, J.; Mian, I. S.; Campisi, J.: The premature ageing syndrome protein, WRN, is a 3-prime-5-prime exonuclease. Nature Genet. 20: 114-115, 1998.
[0019889]10478.Ketting, R. F.; Haverkamp, T. H. A.; van Luenen, H. G. A. M.; Plasterk, R. H. A.: mut-7 of C. elegans, required for transposon silencing and RNA interference, is a homolog of Werner syndrome helicase and RNaseD. Cell 99: 133-141, 1999.
[0019890]10479.Yokota, T.; Oritani, K.; Takahashi, I.; Ishikawa, J.; Matsuyama, A.; Ouchi, N.; Kihara, S.; Funahashi, T.; Tenner, A. J.; Tomiyama, Y.; Matsuzawa, Y.: Adiponectin, a new member of the family of soluble defense collagens, negatively regulates the growth of myelomonocytic progenitors and the functions of macrophages. Blood 96: 1723-1732, 2000.
[0019891]10480.Hjalt, T. A.; Murray, J. C.: The human BARX2 gene: genomic structure, chromosomal localization, and single nucleotide polymorphisms. Genomics 62: 456-459, 1999.
[0019892]10481.Jones, F. S.; Kioussi, C.; Copertino, D. W.; Kallunki, P.; Holst, B. D.; Edelman, G. M.: Barx2, a new homeobox gene of the Bar class, is expressed in neural and craniofacial structures during development. Proc. Nat. Acad. Sci. 94: 2632-2637, 1997.
[0019893]10482.Arking, D. E.; Krebsova, A.; Macek, M., Sr.; Macek, M., Jr.; Arking, A.; Mian, I. S.; Fried, L.; Hamosh, A.; Dey, S.; McIntosh, I.; Dietz, H. C.: Association of human aging with a functional variant of klotho. Proc. Nat. Acad. Sci. 99: 856-861, 2002.
[0019894]10483.Koh, N.; Fujimori, T.; Nishiguchi, S.; Tamori, A.; Shiomi, S.; Nakatani, T.; Sugimura, K.; Kishimoto, T.; Kinoshita, S.; Kuroki, T.; Nabeshima, Y.: Severely reduced production of Klotho in human chronic renal failure kidney. Biochem. Biophys. Res. Commun. 280: 1015-1020, 2001.
[0019895]10484.Kuro-o, M.; Matsumura, Y.; Aizawa, H.; Kawaguchi, H.; Suga, T.; Utsugi, T.; Ohyama, Y.; Kurabayashi, M.; Kaname, T.; Kume, E.; Iwasaki, H.; Iida, A.; Shiraki-Iida, T.; Nishikawa, S.; Nagai, R.; Nabeshima, Y.: Mutation of the mouse klotho gene leads to a syndrome resembling ageing. Nature 390: 45-51, 1997.
[0019896]10485.Matsumura, Y.; Aizawa, H.; Shiraki-Iida, T.; Nagai, R.; Kuro-o, M.; Nabeshima, Y.: Identification of the human klotho gene and its two transcripts encoding membrane and secreted klotho protein. Biochem. Biophys. Res. Commun. 242: 626-630, 1998.
[0019897]10486.Mori, K.; Yahata, K.; Mukoyama, M.; Suganami, T.; Makino, H.; Nagae, T.; Masuzaki, H.; Ogawa, Y.; Sugawara, A.; Nabeshima, Y.; Nakao, K. : Disruption of klotho gene causes an abnormal energy homeostasis in mice. Biochem. Biophys. Res. Commun. 278: 665-670, 2000.
[0019898]10487.Saito, Y.; Nakamura, T.; Ohyama, Y; Suzuki, T.; Iida, A.; Shiraki-Iida, T.; Kuro-o, M.; Nabeshima, Y.; Kurabayashi, M.; Nagai, R.: In vivo klotho gene delivery protects against endothelial dysfunction in multiple risk factor syndrome. Biochem. Biophys. Res. Commun. 276: 767-772, 2000.
[0019899]10488.Bloom, L.; Horvitz, H. R.: The Caenorhabditis elegans gene unc-76 and its human homologs define a new gene family involved in axonal outgrowth and fasciculation. Proc. Nat. Acad. Sci. 94: 3414-3419, 1997.
[0019900]10489.Digilio, M. C.; Marino, B.; Giannotti, A.; Dallapiccola, B.: Single atrium, atrioventricular canal/postaxial hexodactyly indicating Ellis-van Creveld syndrome. Hum. Genet. 96: 251-253, 1996.
[0019901]10490.Krawczak, M.; Cooper, D. N.: The human gene mutation database. Trends Genet. 13: 121-122, 1997.
[0019902]10491.Fujikawa-Adachi, K.; Nishimori, I.; Taguchi, T.; Onishi, S.: Human carbonic anhydrase XIV (CA14): cDNA cloning, mRNA expression, and mapping to chromosome 1. Genomics 61: 74-81, 1999.
[0019903]10492.Vazquez, F.; Hastings, G.; Ortega, M.-A.; Lane, T. F.; Oikemus, S.; Lombardo, M.; Iruela-Arispe, M. L.: METH-1, a human ortholog of ADAMTS-1, and METH-2 are members of a new family of proteins with angio-inhibitory activity. J. Biol. Chem. 274: 23349-23357, 1999.
[0019904]10493.Georgiadis, K. E.; Hirohata, S.; Seldin, M. F.; Apte, S. S.: ADAM-TS8, a novel metalloprotease of the ADAM-TS family located on mouse chromosome 9 and human chromosome 11. Genomics 62: 312-315, 1999.
[0019905]10494.Whitmore, S. A.; Settasatian, C.; Crawford, J.; Lower, K. M.; McCallum, B.; Seshadri, R.; Cornelisse, C. J.; Moerland, E. W.; Cleton-Jansen, A.-M.; Tipping, A. J.; Mathew, C. G.; Savnio, M.; Savoia, A.; Verlander, P.; Auerbach, A. D.; Van Berkel, C.; Pronk, J. C.; Doggett, N. A.; Callen, D. F.: Characterization and screening for mutations of the growth arrest-specific 11 (GAS11) and C16orf3 genes at 16q24.3 in breast cancer. Genomics 52: 325-331, 1998.
[0019906]10495.Sugawara, M.; Nakanishi, T.; Fei, Y.-J.; Huang, W.; Ganapathy, M. E.; Leibach, F. H.; Ganapathy, V.: Cloning of an amino acid transporter with functional characteristics and tissue expression pattern identical to that of system A. J. Biol. Chem. 275: 16473-16477, 2000.
[0019907]10496.Akashi, H.; Han, H.-J.; Iizaka, M.; Nakajima, Y.; Furukawa, Y.; Sugano, S.; Imai, K.; Nakamura, Y.: Isolation and characterization of a novel gene encoding a putative seven-span transmembrane protein, TM7SF3. Cytogenet. Cell Genet. 88: 305-309, 2000.
[0019908]10497.Hsieh, J.-C.; Kodjabachian, L.; Rebbert, M. L.; Rattner, A.; Smallwood, P. M.; Samos, C. H.; Nusse, R.; Dawid, I. B.; Nathans, J.: A new secreted protein that binds to Wnt proteins and inhibits their activites (sic). Nature 398: 431-436, 1999.
[0019909]10498.Fedi, P.; Bafico, A.; Soria, A. N.; Burgess, W. H.; Miki, T.; Bottaro, D. P.; Kraus, M. H.; Aaronson, S. A.: Isolation and biochemical characterization of the human Dkk-1 homologue, a novel inhibitor of mammalian Wnt signaling. J. Biol. Chem. 274: 19465-19472, 1999.
[0019910]10499.Krupnik, V. E.; Sharp, J. D.; Jiang, C.; Robison, K.; Chickering, T. W.; Amaravadi, L.; Brown, D. E.; Guyot, D.; Mays, G.; Leiby, K.; Chang, B.; Duong, T.; Goodearl, A. D. J.; Gearing, D. P.; Sokol, S. Y.; McCarthy, S. A.: Functional and structural diversity of the human Dickkopf gene family. Gene 238: 301-313, 1999.
[0019911]10500.Roessler, E.; Du, Y.; Glinka, A.; Dutra, A.; Niehrs, C.; Muenke, M.: The genomic structure, chromosome location, and analysis of the human DKK1 head inducer gene as a candidate for holoprosencephaly. Cytogenet. Cell Genet. 89: 220-224, 2000.
[0019912]10501.Chang, C.; Holtzman, D. A.; Chau, S.; Chickering, T.; Woolf, E. A.; Holmgren, L. M.; Bodorova, J.; Gearing, D. P.; Holmes, W. E.; Brivanlou, A. H.: Twisted gastrulation can function as a BMP antagonist. Nature 410: 483-487, 2001.
[0019913]10502.Oelgeschlager, M.; Larrain, J.; Geissert, D.; De Robertis, E. M. : The evolutionarily conserved BMP-binding protein Twisted gastrulation promotes BMP signalling. Nature 405: 757-763, 2000.
[0019914]10503.Ross, J. J.; Shimmi, O.; Vilmos, P.; Petryk, A.; Kim, H.; Gaudenz, K.; Hermanson, S.; Ekker, S. C.; O'Connor, M. B.; Marsh, J. L.: Twisted gastrulation is a conserved extracellular BMP antagonist. Nature 410: 479-483, 2001.
[0019915]10504.Scott, I. C.; Blitz, I. L.; Pappano, W. N.; Maas, S. A.; Cho, K. W. Y.; Greenspan, D. S.: Homologues of twisted gastrulation are extracellular cofactors in antagonism of BMP signalling. Nature 410: 475-478, 2001.
[0019916]10505.Gatignol, A.; Buckler-White, A.; Berkhout, B.; Jeang, K. T.: Characterization of a human TAR RNA-binding protein that activates the HIV-1 LTR. Science 251: 1597-1600, 1991.
[0019917]10506.Gatignol, A.; Duarte, M.; Daviet, L.; Chang, Y.-N.; Jeang, K.-T. : Sequential steps in Tat trans-activation of HIV-1 mediated through cellular DNA, RNA, and protein binding factors. Gene Expr. 5: 217-228, 1996.
[0019918]10507.Kozak, C. A.; Gatignol, A.; Graham, K.; Jeang, K. T.; McBride, O. W.: Genetic mapping in human and mouse of the locus encoding TRBP, a protein that binds the TAR region of the human immunodeficiency virus (HIV-1). Genomics 25: 66-72, 1995.
[0019919]10508.Bauer, M. F.; Gempel, K.; Reichert, A. S.; Rappold, G. A.; Lichtner, P.; Gerbitz, K. D.; Neupert, W.; Brunner, M.; Hofmann, S.: Genetic and structural characterization of the human mitochondrial inner membrane translocase. J. Molec. Biol. 289: 69-82, 1999.
[0019920]10509.Phornphutkul, C.; Anikster, Y.; Huizing, M.; Braun, P.; Brodie, C.; Chou, J. Y.; Gahl, W. A.: The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical region. Am. J. Hum. Genet. 69: 712-721, 2001.
[0019921]10510.Lebre, A.-S.; Jamot, L.; Takahashi, J.; Spasskey, N.; Leprince, C.; Ravise, N.; Zander, Fujigasaki, H.; Kussel-Andermann, P.; Duyckaerts, C.; Camonis, J. H.; Brice, A.: Ataxin-7 interacts with a Cbl-associated protein that it recruits into neuronal intranuclear inclusions. Hum. Molec. Genet. 10: 10:-1201-1213, 2001.
[0019922]10511.Lin, W.-H.; Chiu, K. C.; Chang, H.-M.; Lee, K.-C.; Tai, T.-Y.; Chuang, L.-M.: Molecular scanning of the human sorbin and SH3-domain-containing-1 (SORBS1) gene: positive association of the T228A polymorphism with obesity and type 2 diabetes. Hum. Molec. Genet. 10: 1753-1760, 2001.
[0019923]10512.Scott, A. F.: Personal Communication. Baltimore, Md. 9/13/2000.
[0019924]10513.Nishi, M.; Mizushima, A.; Nakagawara, K.; Takeshima, H.: Characterization of human junctophilin subtype genes. Biochem. Biophys. Res. Commun. 273: 920-927, 2000.
[0019925]10514.Takeshima, H.; Komazaki, S.; Nishi, M.; Iino, M.; Kangawa, K.: Junctophilins: a novel family of junctional membrane complex proteins. Molec. Cell 6: 11-22, 2000.
[0019926]10515.Holmes, S. E.; O'Hearn, E.; Rosenblatt, A.; Callahan, C.; Hwang, H. S.; Ingersoll-Ashworth, R. G.; Fleisher, A.; Stevanin, G.; Brice, A.; Potter, N. T.; Ross, C. A.; Margolis, R. L.: A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2. Nature Genet. 29: 377-378, 2001. Note: Erratum: Nature Genet. 30: 123 only, 2002.
[0019927]10516.Iizaka, M.; Han, H.-J.; Akashi, H.; Furukawa, Y.; Nakajima, Y.; Sugano, S.; Ogawa, M.; Nakamura, Y.: Isolation and chromosomal assignment of a novel human gene, CORO1C, homologous to coronin-like actin-binding proteins. Cytogenet. Cell Genet. 88: 221-224, 2000.
[0019928]10517.Bowne, S. J.; Daiger, S. P.; Hims, M. M.; Sohocki, M. M.; Malone, K. A.; McKie, A. B.; Heckenlively, J. R.; Birch, D. G.; Inglehearn, C. F.; Bhattacharya, S. S.; Bird, A.; Sullivan, L. S.: Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa. Hum. Molec. Genet. 8: 2121-2128, 1999.
[0019929]10518.Guillonneau, X.; Piriev, N. I.; Danciger, M.; Kozak, C. A.; Cideciyan, A. V.; Jacobson, S. G.; Farber, D. B.: A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus. Hum. Molec. Genet. 8: 1541-1546, 1999.
[0019930]10519.Iannaccone, A.; Cideciyan, A. V.; Sheffield, V. C.; Stone, E. M.; Jacobson, S. G.: Phenotype of chromosome 8q-linked autosomal dominant retinitis pigmentosa. (Abstract) Invest. Ophthal. Vis. Sci. 37: S345 only, 1996.
[0019931]10520.Liu, Q.; Zhou, J.; Daiger, S. P.; Farber, D. B.; Heckenlively, J. R.; Smith, J. E.; Sullivan, L. S.; Zuo, J.; Milam, A. H.; Pierce, E. A.: Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors. Invest. Ophthal. Vis. Sci. 43: 22-32, 2002.
[0019932]10521.Roderick, T. H.; Chang, B.; Hawes, N. L.; Heckenlively, J. R.: A new dominant retinal degeneration (Rd4) associated with a chromosomal inversion in the mouse. Genomics 42: 393-396, 1997.
[0019933]10522.Chavez, R. A.; Gray, A. T.; Zhao, B. B.; Kindler, C. H.; Mazurek, M. J.; Mehta, Y.; Forsayeth, J. R.; Yost, C. S.: TWIK-2, a new weak inward rectifying member of the tandem pore domain potassium channel family. J. Biol. Chem. 274: 7887-7892, 1999.
[0019934]10523.Gray, A. T.; Kindler, C. H.; Sampson, E. R.; Yost, C. S.: Assignment of KCNK6 encoding the human weak inward rectifier potassium channel TWIK-2 to chromosome band 19q13.1 by radiation hybrid mapping. Cytogenet. Cell Genet. 84: 190-191, 1999.
[0019935]10524.Pountney, D. J.; Gulkarov, I.; Vega-Saenz de Miera, E.; Holmes, D.; Saganich, M.; Rudy, B.; Artman, M.; Coetzee, W. A.: Identification and cloning of TWIK-originated similarity sequence (TOSS): a novel human 2-pore K(+) channel principal subunit. FEBS Lett. 450: 191-196, 1999.
[0019936]10525.Salinas, M.; Reyes, R.; Lesage, F.; Fosset, M.; Heurteaux, C.; Romey, G.; Lazdunski, M.: Cloning of a new mouse two-P domain channel subunit and a human homologue with a unique pore structure. J. Biol. Chem. 274: 11751-11760, 1999.
[0019937]10526.Banikazemi, M.; Diaz, G. A.; Voussough, P.; Jalali, M.; Desnick, R. J.; Gelb, B. D.: Localization of the thiamine-responsive megaloblastic anemia syndrome locus to a 1.4-cM region of 1q23. Molec. Genet. Metab. 66: 193-198, 1999.
[0019938]10527.Diaz, G. A.; Banikazemi, M.; Oishi, K.; Desnick, R. J.; Gelb, B. D.: Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome. Nature Genet. 22: 309-312, 1999.
[0019939]10528.Fleming, J. C.; Tartaglini, E.; Steinkamp, M. P.; Schorderet, D. F.; Cohen, N.; Neufeld, E. J.: The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter. Nature Genet. 22: 305-308, 1999.
[0019940]10529.Raz, T.; Labay, V.; Baron, D.; Szargel, R.; Anbinder, Y.; Barrett, T.; Rabl, W.; Viana, M. B.; Mandel, H.; Baruchel, A.; Cayuela, J.-M.; Cohen, N.: The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families. Hum. Mutat. 16: 37-43, 2000.
[0019941]10530.Rindi, G.; Patrini, C.; Laforenza, U.; Mandel, H.; Berant, M.; Viana, M. B.; Poggi, V.; Zarra, A. N.: Further studies on erythrocyte thiamin transport and phosphorylation in seven patients with thiamin-responsive megaloblastic anaemia. J. Inherit. Metab. Dis. 17: 667-677, 1994.
[0019942]10531.Scharfe, C.; Hauschild, M.; Klopstock, T.; Janssen, A. J. M.; Heidemann, P. H.; Meitinger, T.; Jaksch, M.: A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I. J. Med. Genet. 37: 669-673, 2000.
[0019943]10532.Stagg, A. R.; Fleming, J. C.; Baker, M. A.; Sakamoto, M.; Cohen, N.; Neufeld, E. J.: Defective high-affinity thiamine transporter leads to cell death in thiamine-responsive megaloblastic anemia syndrome fibroblasts. J. Clin. Invest. 103: 723-729, 1999.
[0019944]10533.Barbetti, F.; Rocchi, M.; Bossolasco, M.; Cordera, R.; Sbraccia, P.; Finelli, P.; Consalez, G. G.: The human skeletal muscle glycogenin gene: cDNA, tissue expression, and chromosomal localization. Biochem. Biophys. Res. Commun. 220: 72-77, 1996.
[0019945]10534.Wang, D. W.; VanDeCarr, D.; Ruben, P. C.; George, A. L., Jr.; Bennett, P. B.: Functional consequences of a domain 1/S6 segment sodium channel mutation associated with painful congenital myotonia. FEBS Lett. 448: 231-234, 1999.
[0019946]10535.Wang, J.; Rojas, C. V.; Zhou, J.; Schwartz, L. S.; Nicholas, H.; Hoffman, E. P.: Sequence and genomics structure of the human adult skeletal muscle sodium channel alpha subunit gene on 17q. Biochem. Biophys. Res. Commun. 182: 794-801, 1992.
[0019947]10536.Machesky, L. M.; Reeves, E.; Wientjes, F.; Mattheyse, F. J.; Grogan, A.; Totty, N. F.; Burlingame, A. L.; Hsuan, J. J.; Segal, A. W.: Mammalian actin-related protein 2/3 complex localizes to regions of lamellipodial protrusion and is composed of evolutionarily conserved proteins. Biochem. J. 328: 105-112, 1997.
[0019948]10537.Wada, T.; Yoshikawa, Y.; Tokuyama, S.; Kuwabara, M.; Akita, H.; Miyagi, T.: Cloning, expression, and chromosomal mapping of a human ganglioside sialidase. Biochem. Biophys. Res. Commun. 261: 21-27, 1999.
[0019949]10538.Bigner, S. H.; Vogelstein, B.: Cytogenetics and molecular genetics of malignant gliomas and medulloblastoma. Brain Path. 1: 12-18, 1990.
[0019950]10539.Yoshida, A.; Minowa, M. T.; Takamatsu, S.; Hara, T.; Oguri, S.; Ikenaga, H.; Takeuchi, M.: Tissue specific expression and chromosomal mapping of a human UDP-N-acetylglucosamine:alpha-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase. Glycobiology 9: 303-310, 1999.
[0019951]10540.Boelens, W. C.; Van Boekel, M. A.; De Jong, W. W.: HspB3, the most deviating of the six known human small heat shock proteins. Biochim. Biophys. Acta 1388: 513-516, 1998.
[0019952]10541.Lam, W. Y.; Tsui, S. K. W.; Law, P. T. W.; Luk, S. C.; Fung, K. P.; Lee, C. Y.; Waye, M. M. Y.: Isolation and characterization of a human heart cDNA encoding a new member of the small heat shock protein family--HSPL27. Biochim. Biophys. Acta 1314: 120-124, 1996.
[0019953]10542.Makoff, A.; Lelchuk, R.; Oxer, M.; Harrington, K.; Emson, P.: Molecular characterization and localization of human metabotropic glutamate receptor type 4. Molec. Brain Res. 37: 239-248, 1996.
[0019954]10543.Pekhletski, R.; Gerlai, R.; Overstreet, L. S.; Huang, X. P.; Agopyan, N.; Slater, N. T.; Abramow-Newerly, W.; Roder, J. C.; Hampson, D. R.: Impaired cerebellar synaptic plasticity and motor performance in mice lacking the mGluR4 subtype of metabotropic glutamate receptor. J. Neurosci. 16: 6364-6373, 1996.
[0019955]10544.Barbon, A.; Ferraboli, S.; Barlati, S.: Assignment of the human metabotropic glutamate receptor gene GRM7 to chromosome 3p26.1-p25.2 by radiation hybrid mapping. Cytogenet. Cell Genet. 88: 288 only, 2000.
[0019956]10545.Shore, D.; Squire, M.; Nasmyth, K. A.: Characterization of two genes required for the position-effect control of yeast mating-type genes. EMBO J. 3: 2817-2823, 1984.
[0019957]10546.Tanny, J. C.; Dowd, G. J.; Huang, J.; Hilz, H.; Moazed, D.: An enzymatic activity in the yeast Sir2 protein that is essential for gene silencing. Cell 99: 735-745, 1999.
[0019958]10547.Verhaagh, S.; Schweifer, N.; Barlow, D. P.; Zwart, R.: Cloning of the mouse and human solute carrier 22a3 (Slc22a3/SLC22A3) identifies a conserved cluster of three organic cation transporters on mouse chromosome 17 and human 6q26-q27. Genomics 55: 209-218, 1999.
[0019959]10548.Gorlich, D.; Hartmann, E.; Prehn, S.; Rapoport, T. A.: A protein of the endoplasmic reticulum involved early in polypeptide translocation. Nature 357: 47-52, 1992.
[0019960]10549.Liu, J.; Shworak, N. W.; Sinay, P.; Schwartz, J. J.; Zhang, L.; Fritze, L. M.; Rosenberg, R. D.: Expression of heparan sulfate D-glucosaminyl 3-O-sulfotransferase isoforms reveals novel substrate specificities. J. Biol. Chem. 274: 5185-5192, 1999.
[0019961]10550.Shworak, N. W.; Liu, J.; Petros, L. M.; Zhang, L.; Kobayashi, M.; Copeland, N. G.; Jenkins, N. A.; Rosenberg, R. D.: Multiple isoforms of heparan sulfate D-glucosaminyl 3-O-sulfotransferase: isolation, characterization, and expression of human cDNAs and identification of distinct genomic loci. J. Biol. Chem. 274: 5170-5184, 1999.
[0019962]10551.McIlhatton, M. A.; Burrows, J. F.; Donaghy, P. G.; Chanduloy, S.; Johnston, P. G.; Russell, S. E. H.: Genomic organization, complex splicing pattern and expression of a human septin gene on chromosome 17q25.3. Oncogene 20: 5930-5939, 2001.
[0019963]10552.Osaka, M.; Rowley, J. D.; Zeleznik-Le, N. J.: MSF (MLL septin-like fusion), a fusion partner gene of MLL, in a therapy-related acute myeloid leukemia with a t(11;17)(q23;q25). Proc. Nat. Acad. Sci. 96: 6428-6433, 1999.
[0019964]10553.Russell, S. E. H.; McIlhatton, M. A.; Burrows, J. F.; Donaghy, P. G.; Chanduloy, S.; Petty, E. M.; Kalikin, L. M.; Church, S. W.; McIlroy, S.; Harkin, D. P.; Keilty, G. W.; Cranston, A. N.; Weissenbach, J.; Hickey, I.; Johnston, P. G.: Isolation and mapping of a human septin gene to a region on chromosome 17q, commonly deleted in sporadic epithelial ovarian tumors. Cancer Res. 60: 4729-4734, 2000.
[0019965]10554.Karpinski, B. A.; Morle, G. D.; Huggenvik, J.; Uhler, M. D.; Leiden, J. M.: Molecular cloning of human CREB-2: an ATF/CREB transcription factor that can negatively regulate transcription from the cAMP response element. Proc. Nat. Acad. Sci. 89: 4820-4824, 1992.
[0019966]10555.Kasukabe, T.; Kobayashi, H.; Kaneko, Y.; Okabe-Kado, J.; Honma, Y.: Identity of human normal counterpart (MmTRA1b) of mouse leukemogenesis-associated gene (MmTRA1a) product as a plasma membrane phospholipid scramblase and chromosome mapping of the human MmTRA1b/phospholipid scramblase gene. Biochem. Biophys. Res. Commun. 249: 449-455, 1998.
[0019967]10556.Zhou, Q.; Sims, P. J.; Wiedmer, T.: Identity of a conserved motif in phospholipid scramblase that is required for Ca2+-accelerated transbilayer movement of membrane phospholipids. Biochemistry 37: 2356-2360, 1998.
[0019968]10557.Zhou, Q.; Zhao, J.; Stout, J. G.; Luhm, R. A.; Wiedmer, T.; Sims, P. J.: Molecular cloning of human plasma membrane phospholipid scramblase: a protein mediating transbilayer movement of plasma membrane phospholipids. J. Biol. Chem. 272: 18240-18244, 1997.
[0019969]10558.Robinson, R. C.; Turbedsky, K.; Kaiser, D. A.; Marchand, J.-B.; Higgs, H. N.; Choe, S.; Pollard, T. D.: Crystal structure of Arp2/3 complex. Science 294: 1679-1684, 2001.
[0019970]10559.Volkmann, N.; Amann, K. J.; Stoilova-McPhie, S.; Egile, C.; Winter, D. C.; Hazelwood, L.; Heuser, J. E.; Li, R.; Pollard, T. D.; Hanein, D.: Structure of Arp2/3 complex in its activated state and in actin filament branch junctions. Science 293: 2456-2459, 2001.
[0019971]10560.Welch, M. D.; DePace, A. H.; Verma, S.; Iwamatsu, A.; Mitchison, T. J.: The human Arp2/3 complex is composed of evolutionarily conserved subunits and is localized to cellular regions of dynamic actin filament assembly. J. Cell Biol. 138: 375-384, 1997.
[0019972]10561.Odeberg, J.; Rosok, O.; Gudmundsson, G. H.; Ahmadian, A.; Roshani, L.; Williams, C.; Larsson, C.; Ponten, F.; Uhlen, M.; Asheim, H.-C.; Lundeberg, J.: Cloning and characterization of ZNF189, a novel human Kruppel-like zinc finger gene localized to chromosome 9q22-q31. Genomics 50: 213-221, 1998.
[0019973]10562.Michel, J. J.; Xiong, Y.: Human CUL-1, but not other cullin family members, selectively interacts with SKP1 to form a complex with SKP2 and cyclin A. Cell Growth Differ. 9: 435-449, 1998.
[0019974]10563.Du, M.; Sansores-Garcia, L.; Zu, Z.; Wu, K. K.: Cloning and expression analysis of a novel salicylate suppressible gene, Hs-CUL-3, a member of cullin/Cdc53 family. J. Biol. Chem. 273: 24289-24292, 1998.
[0019975]10564.Bao, S.; Shen, X.; Shen, K.; Liu, Y.; Wang, X.-F.: The mammalian Rad24 homologous to yeast Saccharomyces cerevisiae Rad24 and Schizosaccharomyces pombe Rad17 is involved in DNA damage checkpoint. Cell Growth Diff. 9: 961-967, 1998.
[0019976]10565.Bao, S.; Chang, M.-S.; Auclair, D.; Sun, Y.; Wang, Y.; Wong, W.-K.; Zhang, J.; Liu, Y.; Qian, X.; Sutherland, R.; Magi-Galluzi, C.; Weisberg, E.; Cheng, E. Y. S.; Hao, L.; Sasaki, H.; Campbell, M. S.; Kraeft, S.-K.; Loda, M.; Lo, K.-M.; Chen, L. B.: Hrad17, a human homologue of the Schizosaccharomyces pombe checkpoint gene rad17, is overexpressed in colon carcinoma. Cancer Res. 59: 2023-2028, 1999.
[0019977]10566.Bluyssen, H. A. R.; Naus, N. C.; van Os, R. I.; Jaspers, I.; Hoeijmakers, J. H. J.; de Klein, A.: Human and mouse homologues of the Schizosaccharomyces pombe rad17+ cell cycle checkpoint control gene. Genomics 55: 219-228, 1999.
[0019978]10567.Brunner, H. G.; Hamel, B. C. J.; van Bokhoven, H.: P63 gene mutations and human developmental syndromes. Am. J. Med. Genet. 112: 284-290, 2002.
[0019979]10568.Crackower, M. A.; Motoyama, J.; Tsui, L.-C.: Defect in the maintenance of the apical ectodermal ridge in the Dactylaplasia mouse. Dev. Biol. 201: 78-79, 1998.
[0019980]10569.Duijf, P. H. G.; Vanmolkot, K. R. J.; Propping, P.; Friedl, W.; Krieger, E.; McKeon, F.; Dotsch, V.; Brunner, H. G.; van Bokhoven, H.: Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63. Hum. Molec. Genet. 11: 799-804, 2002.
[0019981]10570.Hibi, K.; Trink, B.; Patturajan, M.; Westra, W. H.; Caballero, O. L.; Hill, D. E.; Ratovitski, E. A.; Jen, J.; Sidransky, D.: AIS is an oncogene amplified in squamous cell carcinoma. Proc. Nat. Acad. Sci. 97: 5462-5467, 2000.
[0019982]10571.Mills, A. A.; Zheng, B.; Wang, X. J.; Vogel, H.; Roop, D. R.; Bradley, A.: p63 is a p53 homologue required for limb and epidermal morphogenesis. Nature 398: 708-713, 1999.
[0019983]10572.Osada, M.; Ohba, M.; Kawahara, C.; Ishioka, C.; Kanamaru, R.; Katoh, I.; Ikawa, Y.; Nimura, Y.; Nakagawara, A.; Obinata, M.; Ikawa, S.: Cloning and functional analysis of human p51, which structurally and functionally resembles p53. Nature Med. 4: 839-843, 1998.
[0019984]10573.Senoo, M.; Seki, N.; Ohira, M.; Sugano, S.; Watanabe, M.; Tachibana, M.; Tanaka, T.; Shinkai, Y.; Kato, H.: A second p53-related protein, p73L, with high homology to p73. Biochem. Biophys. Res. Commun. 248: 603-607, 1998.
[0019985]10574.Trink, B.; Okami, K.; Wu, L.; Sriuranpong, V.; Jen, J.; Sidransky, D. :Nature Med. 4: 747-748, 1998.
[0019986]10575.Yang, A.; Kaghad, M.; Wang, Y.; Gillett, E.; Fleming, M. D.; Dotsch, V.; Andrews, N. C.; Caput, D.; McKeon, F.: p63, a p53 homolog at
[0019987]3q27-29,encodes multiple products with transactivating, death-inducing, and dominantnegative activities. Molec. Cell 2: 305-316, 1998.
[0019988]10576.Yang, A.; Schweitzer, R.; Sun, D.; Kaghad, M.; Walker, N.; Bronson, R. T.; Tabin, C.; Sharpe, A.; Caput, D.; Crum, C.; McKeon, F.: p63 is essential for regenerative proliferation in limb, craniofacial and epithelial development. Nature 398: 714-718, 1999.
[0019989]10577.van Bokhoven, H.; Hamel, B. C.; Bamshad, M.; Sangiorgi, E.; Gurrieri, F.; Duijf, P. H.; Vanmolkot, K. R.; van Beusekom, E.; van Beersum, S. E.; Celli, J.; Merkx, G. F.; Tenconi, R.; and 13 others: p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-foot malformation suggest a genotype-phenotype correlation. Am. J. Hum. Genet. 69: 481-492, 2001.
[0019990]10578.Loijens, J. C.; Anderson, R. A.: Type I phosphatidylinositol-4-phosphate 5-kinases are distinct members of this novel lipid kinase family. J. Biol. Chem. 271: 32937-32943, 1996.
[0019991]10579.Xie, Y.; Zhu, L.; Zhao, G.: Assignment of type I phosphatidylinositol-4-phosphate 5-kinase (PIP5K1A) to human chromosome bands 1q22-q24 by in situ hybridization. Cytogenet. Cell Genet. 88: 197-199, 2000.
[0019992]10580.Seki, N.; Sugano, S.; Suzuki, Y.; Nakagawara, A.; Ohira, M.; Muramatsu, M.; Saito, T.; Hori, T.: Isolation, tissue expression, and chromosomal assignment of human RGS5, a novel Gprotein signaling regulator gene. Hum. Genet. 43: 202-205, 1998.
[0019993]10581.Seelig, H. P.; Moosbrugger, I.; Ehrfeld, H.; Fink, T.; Renz, M.; Genth, E.: The major dermatomyositis-specific Mi-2 autoantigen is a presumed helicase involved in transcriptional activation. Arthritis Rheum. 38: 1389-1399, 1995.
[0019994]10582.Wade, P. A.; Gegonne, A.; Jones, P. L.; Ballestar, E.; Aubry, F.; Wolffe, A. P.: Mi-2 complex couples DNA methylation to chromatin remodelling and histone deacetylation. Nature Genet. 23: 62-66, 1999.
[0019995]10583.Zhang, Y.; LeRoy, G.; Seelig, H.-P.; Lane, W. S.; Reinberg, D. : The dermatomyositisspecific autoantigen Mi2 is a component of a complex containing histone deacetylase and nucleosome remodeling activities. Cell 95: 279-289, 1998.
[0019996]10584.Parma, J.; Duprez, L.; Van Sande, J.; Cochaux, P.; Gervy, C.; Mockel, J.; Dumont, J.; Vassart, G.: Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas. Nature 365: 649-651, 1993.
[0019997]10585.Parma, J.; Duprez, L.; Van Sande, J.; Hermans, J.; Rocmans, P.; Van Vliet, G.; Costagliola, S.; Rodien, P.; Dumont, J. E.; Vassart, G.: Diversity and prevalence of somatic mutations in the thyrotropin receptor and Gs-alpha genes as a cause of toxic thyroid adenomas. J. Clin. Endocr. Metab. 82: 2695-2701, 1997.
[0019998]10586.Rodien, P.; Bremont, C.; Luton, J.-P.; Raffin-Sanson, M.-L.; Parma, J.; Duprez, L.; Vassart, G.: De la promiscuite chez les hormones glycoproteiques: hyperthyroidie gestationnelle familiale par mutation du recepteur de la TSH. Med./Sci. 15: 713-717, 1999.
[0019999]10587.Rodien, P.; Bremont, C.; Raffin Sanson, M.-L.; Parma, J.; Van Sande, J.; Costagliola, S.; Luton, J.-P.; Vassart, G.; Duprez, L. : Familial gestational hyperthyroidism caused by a mutant thyrotropin receptor hypersensitive to human chorionic gonadotropin. New Eng. J. Med. 339: 1823-1826, 1998.
[0020000]10588.Rousseau-Merck, M. F.; Misrahi, M.; Loosfelt, H.; Atger, M.; Milgrom, E.; Berger, R.: Assignment of the human thyroid stimulating hormone receptor (TSHR) gene to chromosome 14q31. Genomics 8: 233-236, 1990.
[0020001]10589.Russo, D.; Betterle, C.; Arturi, F.; Chiefari, E.; Girelli, M. E.; Filetti, S.: A novel mutation in the thyrotropin (TSH) receptor gene causing loss of TSH binding but constitutive receptor activation in a family with resistance to TSH. J. Clin. Endocr. Metab. 85: 4238-4242, 2000.
[0020002]10590.Russo, D.; Tumino, S.; Arturi, F.; Vigneri, P.; Grasso, G.; Pontecorvi, A.; Filetti, S.; Belfiore, A.: Detection of an activating mutation of the thyrotropin receptor in a case of an autonomously hyperfunctioning thyroid insular carcinoma. J. Clin. Endocr. Metab. 82: 735-738, 1997.
[0020003]10591.Tonacchera, M.; Agretti, P.; Chiovato, L.; Rosellini, V.; Ceccarini, G.; Perri, A.; Viacava, P.; Naccarato, A. G.; Miccoli, P.; Pinchera, A.; Vitti, P.: Activating thyrotropin receptor mutations are present in nonadenomatous hyperfunctioning nodules of toxic or autonomous multinodular goiter. J. Clin. Endocr. Metab. 85: 2270-2274, 2000.
[0020004]10592.Tonacchera, M.; Agretti, P.; Pinchera, A.; Rosellini, V.; Perri, A.; Collecchi, P.; Vitti, P.; Chiovato, L.: Congenital hypothyroidism with impaired thyroid response to thyrotropin (TSH) and absent circulating thyroglobulin: evidence for a new inactivating mutation of the TSH receptor gene. J. Clin. Endocr. Metab. 85: 1001-1008, 2000.
[0020005]10593.Trulzsch, B.; Nebel, T.; Paschke, R.: The thyrotropin receptor mutation database. (Editorial) Thyroid 9: 521-522, 1999.
[0020006]10594.Van Sande, J.; Parma, J.; Tonacchera, M.; Swillens, S.; Dumont, J.; Vassart, G.: Genetic basis of endocrine disease: Somatic and germline mutations of the TSH receptor gene in thyroid diseases. J. Clin. Endocr. Metab. 80: 2577-2585, 1995.
[0020007]10595.Vassart, G.; Parmentier, M.; Libert, F.; Dumont, J.: Molecular genetics of the thyrotropin receptor. Trends Endocr. Metab. 2: 151-156, 1991.
[0020008]10596.Wadsworth, H. L.; Chazenbalk, G. D.; Nagayama, Y.; Russo, D.; Rapoport, B.: An insertion in the human thyrotropin receptor critical for high affinity hormone binding. Science 249: 1423-1425, 1990.
[0020009]10597.Aihara, T.; Miyoshi, Y.; Koyama, K.; Suzuki, M.; Takahashi, E.; Monden, M.; Nakamura, Y.: Cloning and mapping of SMARCA5 encoding hSNF2H, a novel human homologue of Drosophila ISWI. Cytogenet. Cell Genet. 81: 191-193, 1998.
[0020010]10598.Bochar, D. A.; Savard, J.; Wang, W.; Lafleur, D. W.; Moore, P.; Cote, J.; Shiekhattar, R.: A family of chromatin remodeling factors related to Williams syndrome transcription factor. Proc. Nat. Acad. Sci. 97: 1038-1043, 2000.
[0020011]10599.Bozhenok, L.; Wade, P. A.; Varga-Weisz, P.: WSTF-ISWI chromatin remodeling complex targets heterochromatic replication foci. EMBO J. 21: 2231-2241, 2002.
[0020012]10600.LeRoy, G.; Orphanides, G.; Lane, W. S.; Reinberg, D.: Requirement of RSF and FACT for transcription of chromatin templates in vitro. Science 282: 1900-1904, 1998.
[0020013]10601.Poot, R. A.; Dellaire, G.; Hulsmann, B. B.; Grimaldi, M. A.; Corona, D. F. V.; Becker, P. B.; Bickmore, W. A.; Varga-Weisz, P. D.: HuCHRAC, a human ISWI chromatin remodelling complex contains hACF1 and two novel histone-fold proteins. EMBO J. 19: 3377-3387, 2000.
[0020014]10602.Burwinkel, B.; Kreuder, J.; Schweitzer, S.; Vorgerd, M.; Gempel, K.; Gerbitz, K.-D.; Kilimann, M. W.: Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality. Biochem. Biophys. Res. Commun. 261: 484-487, 1999.
[0020015]10603.Alberati-Giani, D.; Cesura, A. M.; Broger, C.; Warren, W. D.; Rover, S.; Malherbe, P.: Cloning and functional expression of human kynurenine 3-monooxygenase. FEBS Lett. 410: 407-412, 1997.
[0020016]10604.Nagler, D. K.; Sulea, T.; Menard, R.: Full-length cDNA of human cathepsin F predicts the presence of a cystatin domain at the N-terminus of the cysteine protease zymogen. Biochem. Biophys. Res. Commun. 257: 313-318, 1999.
[0020017]10605.Santamaria, I.; Velasco, G.; Pendas, A. M.; Paz, A.; Lopez-Otin, C.: Molecular cloning and structural and functional characterization of human cathepsin F, a new cysteine proteinase of the papain family with a long propeptide domain. J. Biol. Chem. 274: 13800-13809, 1999.
[0020018]10606.Wang, B.; Shi, G.-P.; Yao, P. M.; Li, Z.; Chapman, H. A.; Bromme, D.: Human cathepsin F: molecular cloning, functional expression, tissue localization, and enzymatic characterization. J. Biol. Chem. 273: 32000-32008, 1998.
[0020019]10607.Boyer, S. H.; Fainer, D. C.; Watson-Williams, E. J.: Lactate dehydrogenase variant from human blood: evidence for molecular subunits. Science 141: 642-643, 1963.
[0020020]10608.Krolewski, J. J.; Lee, R.; Eddy, R.; Shows, T. B.; Dalla-Favera, R.: Identification and chromosomal mapping of new human tyrosine kinase genes. Oncogene 5: 277-282, 1990.
[0020021]10609.Virtaneva, K. I.; Angelisova, P.; Baumruker, T.; Horejsi, V.; Nevanlinna, H.; Schroder, J.: The genes for CD37, CD53, and R2, all members of a novel gene family, are located on different chromosomes. Immunogenetics 37: 461-465, 1993.
[0020022]10610.Amiot, M.: Identification and analysis of cDNA clones encoding CD53: a panleukocyte antigen related to membrane transport proteins. J. Immun. 145: 4322-4325, 1990.
[0020023]10611.Angelisova, P.; Vlcek, C.; Stefanova, I.; Lipoldova, M.; Horejsi, V.: The human leucocyte surface antigen CD53 is a protein structurally similar to the CD37 and MRC OX-44 antigens. Immunogenetics 32: 281-285, 1990.
[0020024]10612.Gonzalez, M. E.; Pardo-Manuel de Villena, F.; Fernandez-Ruiz, E.; Rodriguez de Cordoba, S.; Lazo, P. A.: The human CD53 gene, coding for a four transmembrane domain protein, maps to chromosomal region 1p13. Genomics 18: 725-728, 1993.
[0020025]10613.Hadam, M. R.: Cluster report: CD53. In: Knapp, W.; Dorken, B.; Gilks, W. R.; Rieber, E. P.; Schmidt, R. E.; Stein, H.; von dem Borne, A. E. G. K.: Leucocyte Typing IV. White Cell Differentiation Antigens. Oxford: Oxford Univ. Press (pub.) 1989. Pp. 674-678.
[0020026]10614.Taguchi, T.; Bellacosa, A.; Zhou, J.-Y.; Gilbert, D. J.; Lazo, P. A.; Copeland, N. G.; Jenkins, N. A.; Tsichlis, P. N.; Testa, J. R.: Chromosomal localization of the Ox-44 (CD53) leukocyte antigen gene in man and rodents. Cytogenet. Cell Genet. 64: 217-221, 1993.
[0020027]10615.Yoshimura, K.; Toibana, A.; Nakahama, K.: Human lysozyme: sequencing of a cDNA, and expression and secretion by Saccharomyces cerevisiae. Biochem. Biophys. Res. Commun. 150: 794-801, 1988.
[0020028]10616.Salmikangas, P.; Mykkanen, O.-M.; Gronholm, M.; Heiska, L.; Kere, J.; Carpen, O.: Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limbgirdle muscular dystrophy. Hum. Molec. Genet. 8: 1329-1336, 1999.
[0020029]10617.Hauser, M. A.; Horrigan, S. K.; Salmikangas, P.; Torian, U. M.; Viles, K. D.; Dancel, R.; Tim, R. W.; Taivainen, A.; Bartoloni, L.; Gilchrist, J. M.; Stajich, J. M.; Gaskell, P. C.; Gilbert, J. R.; Vance, J. M.; Pericak-Vance, M. A.; Carpen, O.; Westbrook, C. A.; Speer, M. C.: Myotilin is mutated in limb girdle muscular dystrophy 1A. Hum. Molec. Genet. 9: 2141-2147, 2000.
[0020030]10618.Riegman, P. H. J.; Vlietstra, R. J.; van der Korput, J. A. G. M.; Romijn, J. C.; Trapman, J.: Characterization of the prostate-specific antigen gene: a novel human kallikrein-like gene. Biochem. Biophys. Res. Commun. 159: 95-102, 1989.
[0020031]10619.Santoro, M.; Carlomagno, F.; Hay, I. D.; Herrmann, M. A.; Grieco, M.; Melillo, R.; Pierotti, M. A.; Bongarzone, I.; Della Porta, G.; Berger, N.; Peix, J. L.; Paulin, C.; Fabien, N.; Vecchio, G.; Jenkins, R. B.; Fusco, A.: Ret oncogene activation in human thyroid neoplasms is restricted to the papillary cancer subtype. J. Clin. Invest. 89: 1517-1522, 1992.
[0020032]10620.Santoro, M.; Carlomagno, F.; Romano, A.; Bottaro, D. P.; Dathan, N. A.; Grieco, M.; Fusco, A.; Vecchio, G.; Matoskova, B.; Kraus, M. H.; Di Fiore, P. P.: Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B. Science 267: 381-383, 1995.
[0020033]10621.Schuchardt, A.; D'Agati, V.; Larsson-Blomberg, L.; Costantini, F.; Pachnis, V.: Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret. Nature 367: 380-383, 1994.
[0020034]10622.Shirahama, S.; Ogura, K.; Takami, H.; Ito, K.; Tohsen, T.; Miyauchi, A.; Nakamura, Y.: Mutational analysis of the RET proto-oncogene in 71 Japanese patients with medullary thyroid carcinoma. J. Hum. Genet. 43: 101-106, 1998.
[0020035]10623.Seri, M.; Yin, L.; Barone, A.; Bolino, A.; Celli, I.; Bocciardi, R.; Pasini, B.; Ceccherini, I.; Lerone, M.; Kristoffersson, U.; Larsson, L. T.; Casasa, J. M.; Cass, D. T.; Abramowicz, M. J.; Vanderwinden, J.-M.; Kravcenkiene, I.; Baric, I.; Silengo, M.; Martucciello, G.; Romeo, G.: Frequency of RET mutations in long- and short-segment Hirschsprung disease. Hum. Mutat. 9: 243-249, 1997.
[0020036]10624.Takahashi, M.; Buma, Y.; Hiai, H.: Isolation of ret proto-oncogene cDNA with an amino-terminal signal sequence. Oncogene 4: 805-806, 1989.
[0020037]10625.Takahashi, M.; Buma, Y.; Iwamoto, T.; Inaguma, Y.; Ikeda, H.; Hiai, H.: Cloning and expression of the ret proto-oncogene encoding a tyrosine kinase with two potential transmembrane domains. Oncogene 3: 571-578, 1988.
[0020038]10626.Takahashi, M.; Ritz, J.; Cooper, G. M.: Activation of a novel human transforming gene, ret, by DNA rearrangement. Cell 42: 581-588, 1985.
[0020039]10627.Tessitore, A.; Sinisi, A. A.; Pasquali, D.; Cardone, M.; Vitale, D.; Bellastella, A.; Colantuoni, V.: A novel case of multiple endocrine neoplasia type 2A associated with two de novo mutations of the RET protooncogene. J. Clin. Endocr. Metab. 84: 3522-3527, 1999.
[0020040]10628.van Heyningen, V.: One gene--four syndromes. Nature 367: 319-320, 1994.
[0020041]10629.Xue, F.; Yu, H.; Maurer, L. H.; Memoli, V. A.; Nutile-McMenemey, N.; Schuster, M. K.; Bowden, D. W.; Mao, J.; Noll, W. W.: Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests. Hum. Molec. Genet. 3: 635-638, 1994.
[0020042]10630.Yin, L.; Ceccherini, I.; Pasini, B.; Matera, I.; Bicocchi, M. P.; Barone, V.; Bocciardi, R.; Kaariainen, H.; Weber, D.; Devoto, M.; Romeo, G.: Close linkage with the RET protooncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease. Hum. Molec. Genet. 2: 1803-1808, 1993.
[0020043]10631.Feller, S. M.; Ren, R. B.; Hanafusa, H.; Baltimore, D.: SH2 and SH3 domains as molecular adhesives: the interactions of crk and abl. Trends Biochem. Sci. 19: 453-458, 1994.
[0020044]10632.Benz-Lemoine, E.; Brizard, A.; Huret, J.-L.; Babin, P.; Guilhot, F.; Couet, D.; Tanzer, J.: Malignant histiocytosis: a specific t(2;5)(p23;q35) translocation? Review of the literature. Blood 72: 1045-1047, 1988.
[0020045]10633.Boultwood, J.; Rack, K.; Kelly, S.; Madden, J.; Sakaguchi, A. Y.; Wang, L.-M.; Oscier, D. G.; Buckle, V. J.; Wainscoat, J. S.: Loss of both CSF1R (FMS) alleles in patients with myelodysplasia and a chromosome 5 deletion. Proc. Nat. Acad. Sci. 88: 6176-6180, 1991.
[0020046]10634.De Qi Xu; Guilhot, S.; Galibert, F.: Restriction fragment length polymorphism of the human c-fms gene. Proc. Nat. Acad. Sci. 82: 2862-2865, 1985.
[0020047]10635.Eccles, M. R.: Genes encoding the platelet-derived growth factor (PDGF) receptor and colony-stimulating factor 1 (CSF-1) receptor are physically associated in mice as in humans. Gene 108: 285-288, 1991.
[0020048]10636.Gisselbrecht, S.; Fichelson, S.; Sola, B.; Bordereaux, D.; Hampe, A.; Andre, C.; Galibert, F.; Tambourin, P. E.: Frequent c-fms activation by proviral insertion in mouse myeloblastic leukaemias. Nature 329: 259-261, 1987.
[0020049]10637.Groffen, J.; Heisterkamp, N.; Spurr, N. K.; Dana, S. L.; Wasmuth, J. J.; Stephenson, J. R.: Regional assignment of the human c-fms oncogene to band q34 of chromosome 5. (Abstract) Cytogenet. Cell Genet. 37: 484 only, 1984.
[0020050]10638.Hampe, A.; Gobet, M.; Sherr, C. J.; Galibert, F.: Nucleotide sequence of the feline retroviral oncogene v-fms shows unexpected homology with oncogenes encoding tyrosine-specific protein kinases. Proc. Nat. Acad. Sci. 81: 85-89, 1984.
[0020051]10639.Hampe, A.; Shamoon, B.-M.; Gobet, M.; Sherr, C. J.; Galibert, F. : Nucleotide sequence and structural organization of the human FMS proto-oncogene. Oncogene Res. 4: 9-17, 1989.
[0020052]10640.How, G.-F.; Venkatesh, B.; Brenner, S.: Conserved linkage between the puffer fish (Fugu rubripes) and human genes for platelet-derived growth factor receptor and macrophage colonystimulating factor receptor. Genome Res. 6: 1185-1191, 1996.
[0020053]10641.Graham, M.; Adams, J. M.: Chromosome 8 breakpoint far 3-prime of the c-myc oncogene in a Burkitt's lymphoma 2;8 variant translocation is equivalent to the murine pvt-1 locus. EMBO J. 5: 2845-2851, 1986.
[0020054]10642.Berger, A.; Rosenthal, D.; Spiegel, S.: Sphingosylphosphocholine, a signaling molecule which accumulates in Niemann-Pick disease type A, stimulates DNA-binding activity of the transcription activator protein AP-1. Proc. Nat. Acad. Sci. 92: 5885-5889, 1995.
[0020055]10643.Bohmann, D.; Bos, T. J.; Admon, A.; Nishimura, T.; Vogt, P. K.; Tjian, R.: Human proto-oncogene c-jun encodes a DNA binding protein with structural and functional properties of transcription factor AP-1. Science 238: 1386-1392, 1987.
[0020056]10644.Bos, T. J.; Bohmann, D.; Tsuchie, H.; Tjian, R.; Vogt, P. K.: v-jun encodes a nuclear protein with enhancer binding properties of AP-1. Cell 52: 705-712, 1988.
[0020057]10645.Haluska, F. G.; Huebner, K.; Isobe, M.; Nishimura, T.; Croce, C. M.; Vogt, P. K.: Localization of the human JUN protooncogene to chromosome region 1p31-32. Proc. Nat. Acad. Sci. 85: 2215-2218, 1988.
[0020058]10646.Hattori, K.; Angel, P.; Le Beau, M. M.; Karin, M.: Structure and chromosomal localization of the functional intronless human JUN protooncogene. Proc. Nat. Acad. Sci. 85: 9148-9152, 1988.
[0020059]10647.Lamph, W. W.; Wamsley, P.; Sassone-Corsi, P.; Verma, I. M.: Induction of protooncogene JUN/AP-1 by serum and TPA. Nature 334: 629-631, 1988.
[0020060]10648.Marx, J. L.: 'Jun' is bustin' out all over. (Research News). Science 242: 1377-1378, 1988.
[0020061]10649.Mattei, M. G.; Simon-Chazottes, D.; Hirai, S.-I.; Ryseck, R.-P.; Galcheva-Gargova, Z.; Guenet, J. L.; Mattei, J. F.; Bravo, R.; Yaniv, M.: Chromosomal localization of the three members of the jun proto-oncogene family in mouse and man. Oncogene 5: 151-156, 1990.
[0020062]10650.Shaulian, E.; Karin, M.: AP-1 as a regulator of cell life and death. Nature Cell Biol. 4: E131-E136, 2002.
[0020063]10651.Shaulian, E.; Schreiber, M.; Piu, F.; Beeche, M.; Wagner, E. F.; Karin, M.: The mammalian UV response: c-Jun induction is required for exit from p53-imposed growth arrest. Cell 103: 897-907, 2000.
[0020064]10652.Mattei, M. G.; Simon-Chazottes, D.; Hirai, S.; Ryseck, R. P.; Galcheva-Gargova, Z.; Guenet, J. L.; Mattei, J. F.; Bravo, R.; Yaniv, M.: Chromosomal localization of the three members of the jun proto-oncogene family in mouse and man. Oncogene 5: 151-156, 1990.
[0020065]10653.Passegue, E.; Jochum, W.; Behrens, A.; Ricci, R.; Wagner, E. F. : JunB can substitute for Jun in mouse development and cell proliferation. Nature Genet. 30: 158-166, 2002.
[0020066]10654.Passegue, E.; Jochum, W.; Schorpp-Kistner, M.; Mohle-Steinlein, U.; Wagner, E. F.: Chronic myeloid leukemia with increased granulocyte progenitors in mice lacking JunB expression in the myeloid lineage. Cell 104: 21-32, 2001.
[0020067]10655.Phinney, D. G.; Tseng, S. W.; Ryder, K.: Complex genetic organization of junB: multiple blocks of flanking evolutionarily conserved sequence at the murine and human junB loci. Genomics 28: 228-234, 1995.
[0020068]10656.Sullivan, M.; Olsen, A. S.; Houslay, M. D.: Genomic organisation of the human cyclic AMP-specific phosphodiesterase PDE4C gene and its chromosomal localisation to 19p13.1, between RAB3A and JUND. Cell. Signal. 11: 735-742, 1999.
[0020069]10657.Weitzman, J. B.; Fiette, L.; Matsuo, K.; Yaniv, M.: JunD protects cells from p53-dependent senescence and apoptosis. Molec. Cell 6: 1109-1119, 2000.
[0020070]10658.Falush, D.; Almqvist, E. W.; Brinkmann, R. R.; Iwasa, Y.; Hayden, M. R.: Measurement of mutational flow implies both a high new-mutation rate for Huntington disease and substantial underascertainment of late-onset cases. Am. J. Hum. Genet. 68: 373-385, 2001.
[0020071]10659.Blin-Wakkach, C.; Lezot, F.; Ghoul-Mazgar, S.; Hotton, D.; Monteiro, S.; Teillaud, C.; Pibouin, L.; Orestes-Cardoso, S.; Papagerakis, P.; Macdougall, M.; Robert, B.; Berdal, A.: Endogenous Msx1 antisense transcript: in vivo and in vitro evidences, structure, and potential involvement in skeleton development in mammals. Proc. Nat. Acad. Sci. 98: 7336-7341, 2001.
[0020072]10660.Goldfarb, L. G.; Vasconcelos, O.; Platonov, F. A.; Lunkes, A.; Kipnis, V.; Kononova, S.; Chabrashvili, T.; Vladimirtsev, V. A.; Alexeev, V. P.; Gajdusek, D. C.: Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1. Ann. Neurol. 39: 500-506, 1996.
[0020073]10661.Pellegris, G.; Illeni, M. T.; Rovini, D.; Vaglini, M.; Cascinelli, N.; Ghidoni, A.: HLA complex and familial malignant melanoma. Int. J. Cancer 29: 621-623, 1982.
[0020074]10662.Steiglitz, B. M.; Greenspan, D. S.: Assignment of the mouse Pcolce2 gene, which encodes procollagen C-proteinase enhancer protein 2, to chromosome 9 and localization of PCOLCE2 to human chromosome 3q23. Cytogenet. Cell Genet. 95: 244-245, 2001.
[0020075]10663.Xu, H.; Acott, T. S.; Wirtz, M. K.: Identification and expression of a novel type I procollagen C-proteinase enhancer protein gene from the glaucoma candidate region on 3q21-q24. Genomics 66: 264-273, 2000.
[0020076]10664.Peier, A. M.; Reeve, A. J.; Andersson, D. A.; Moqrich, A.; Earley, T. J.; Hergarden, A. C.; Story, G. M.; Colley, S.; Hogenesch, J. B.; McIntyre, P.; Bevan, S.; Patapoutian, A.: A heat-sensitive TRP channel expressed in keratinocytes. Science 296: 2046-2049, 2002.
[0020077]10665.Smith, G. D.; Gunthorpe, M. J.; Kelsell, R. E.; Hayes, P. D.; Reilly, P.; Facer, P.; Wright, J. E.; Jerman, J. C.; Walhin, J.-P.; Ooi, L.; Egerton, J.; Charles, K. J.; Smart, D.; Randall, A. D.; Anand, P.; Davis, J. B.: TRPV3 is a temperature-sensitive vanilloid receptor-like protein. Nature 418: 186-190, 2002.
[0020078]10666.Xu, H.; Ramsey, I. S.; Kotecha, S. A.; Moran, M. M.; Chong, J. A.; Lawson, D.; Ge, P.; Lilly, J.; Silos-Santiago, I.; Xie, Y.; DiStefano, P. S.; Curtis, R.; Clapham, D. E.: TRPV3 is a calciumpermeable temperature-sensitive cation channel. Nature 418: 181-186, 2002.
[0020079]10667.Ching, Y.-P.; Zhou, H.-J.; Yuan, J.-G.; Qiang, B.-Q.; Kung, H.; Jin, D.-Y.: Identification and characterization of FTSJ2, a novel human nucleolar protein homologous to bacterial ribosomal RNA methyltransferase. Genomics 79: 2-6, 2002.
[0020080]10668.Brand, S. H.; Castle, J. D.: SCAMP-37, a new marker within the general cell surface recycling system. EMBO J. 12: 3753-3761, 1993.
[0020081]10669.Singleton, D. R.; Wu, T. T.; Castle, J. D.: Three mammalian SCAMPs (secretory carrier membrane proteins) are highly related products of distinct genes having similar subcellular distributions. J. Cell Sci. 110: 2099-2107, 1997.
[0020082]10670.Yamashita, A.; Ohnishi, T.; Kashima, I.; Taya, Y.; Ohno, S.: Human SMG-1, a novel phosphatidylinositol 3-kinase-related protein kinase, associates with components of the mRNA surveillance complex and is involved in the regulation of nonsense-mediated mRNA decay. Genes Dev. 15: 2215-2228, 2001.
[0020083]10671.Bossolasco, M.; Lebel, M.; Lemieux, N.; Mes-Masson, A.-M.: The human TDE gene homologue: localization to 20q13.1-13.3 and variable expression in human tumor cell lines and tissue. Molec. Carcinogen. 26: 189-200, 1999.
[0020084]10672.Modarressi, M. H.; Cameron, J.; Taylor, K. E.; Wolfe, J.: Identification and characterisation of a novel gene, TSGA10, expressed in testis. Gene 262: 249-255, 2001.
[0020085]10673.Bowlus, C. L.; Ahn, J.; Chu, T.; Gruen, J. R.: Cloning of a novel MHC-encoded serine peptidase highly expressed by cortical epithelial cells of the thymus. Cell. Immun. 196: 80-86, 1999.
[0020086]10674.Cheunsuk, S.; Sparks, R.; Noveroske, J. K.; Hsu, T.; Justice, M. J.; Gershwin, M. E.; Gruen, J. R.; Bowlus, C. L.: Expression, genomic structure and mapping of the thymus specific protease prss16: a candidate gene for insulin dependent diabetes mellitus susceptibility. J. Autoimmun. 18: 311-316, 2002.
[0020087]10675.Kamberov, E.; Makarova, O.; Roh, M.; Liu, A.; Karnak, D.; Straight, S.; Margolis, B.: Molecular cloning and characterization of Pals, proteins associated with mLin-7. J. Biol. Chem. 275: 11425-11431, 2000.
[0020088]10676.Tseng, T.-C.; Marfatia, S. M.; Bryant, P. J.; Pack, S.; Zhuang, A.; O'Brien, J. E.; Lin, L.; Hanada, T.; Chishti, A. H.: VAM-1: a new member of the MAGUK family binds to human Veli-1 through a conserved domain. Biochim. Biophys. Acta 1518: 249-259, 2001.
[0020089]10677.Wei, X.; Malicki, J. M.: nagie oko, encoding a MAGUK-family protein, is essential for cellular patterning of the retina. Nature Genet. 31: 150-157, 2002. Note: Erratum: Nature Genet. 31: 439 only, 2002.
[0020090]10678.Esser, V.; Russell, D. W.: Transport-deficient mutations in the low density lipoprotein receptor: alterations in the cysteine-rich and cysteine-poor regions of the protein block intracellular transport. J. Biol. Chem. 263: 13276-13281, 1988.
[0020091]10679.Fumeron, F.; Grandchamp, B.; Fricker, J.; Krempf, M.; Wolf, L.-M.; Khayat, M.-C.; Boiffard, O.; Apfelbaum, M.: Presence of the French Canadian deletion in a French patient with familial hypercholesterolemia. (Letter) New Eng. J. Med. 326: 69 only, 1992.
[0020092]10680.Gilbert, W.: Genes-in-pieces revisited. Science 228: 823-824, 1985.
[0020093]10681.Goldfarb, L. G.; Petersen, R. B.; Tabaton, M.; Brown, P.; LeBlanc, A. C.; Montagna, P.; Cortelli, P.; Julien, J.; Vital, C.; Pendelbury, W. W.; Haltia, M.; Wills, P. R.; and 9 others: Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism. Science 258: 806-808, 1992.
[0020094]10682.Graadt van Roggen, F.; van der Westhuyzen, D. R.; Marais, A. D.; Gevers, W.; Coetzee, G. A.: Low density lipoprotein receptor founder mutations in Afrikaner familial hypercholesterolaemic patients: a comparison of two geographical areas. Hum. Genet. 88: 204-208, 1991.
[0020095]10683.Gudnason, V.; King-Underwood, L.; Seed, M.; Sun, X.-M.; Soutar, A. K.; Humphries, S. E.: Identification of recurrent and novel mutations in exon 4 of the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom. Arteriosclerosis Thromb. 13: 56-63, 1993.
[0020096]10684.Gudnason, V.; Sigurdsson, G.; Nissen, H.; Humphries, S. E.: Common founder mutation in the LDL receptor gene causing familial hypercholesterolemia in the Icelandic population. Hum. Mutat. 10: 36-44, 1997.
[0020097]10685.Henderson, H. E.; Berger, G. M. B.; Marais, A. D.: A new LDL receptor gene deletion mutation in the South African population. Hum. Genet. 80: 371-374, 1988.
[0020098]10686.Hobbs, H. H.: Personal Communication. Dallas, Tex. 12/1/1990.
[0020099]10687.Hobbs, H. H.; Brown, M. S.; Russell, D. W.; Davignon, J.; Goldstein, J. L.: Deletion in the gene for the low-density-lipoprotein receptor in a majority of French Canadians with familial hypercholesterolemia. New Eng. J. Med. 317: 734-737, 1987.
[0020100]10688.Hobbs, H. H.; Lehrman, M. A.; Yamamoto, T.; Russell, D. W.: Polymorphism and evolution of Alu sequences in the human low density lipoprotein receptor gene. Proc. Nat. Acad. Sci. 82: 7651-7655, 1985.
[0020101]10689.Hobbs, H. H.; Leitersdorf, E.; Goldstein, J. L.; Brown, M. S.; Russell, D. W.: Multiple CRM- mutations in familial hypercholesterolemia: evidence for 13 alleles, including four deletions. J. Clin. Invest. 81: 909-917, 1988.
[0020102]10690.Horsthemke, B.; Dunning, A.; Humphries, S.: Identification of deletions in the human low density lipoprotein receptor gene. J. Med. Genet. 24: 144-147, 1987.
[0020103]10691.Horsthemke, B.; Kessling, A. M.; Seed, M.; Wynn, V.; Williamson, R.; Humphries, S. E.: Identification of a deletion in the low density lipoprotein (LDL) receptor gene in a patient with familial hypercholesterolaemia. Hum. Genet. 71: 75-78, 1985.
[0020104]10692.Jensen, H. K.; Jensen, T. G.; Faergeman, O.; Jensen, L. G.; Andresen, B. S.; Corydon, M. J.; Andreasen, P. H.; Hansen, P. S.; Heath, F.; Bolund, L.; Gregersen, N.: Two mutations in the same low-density lipoprotein receptor allele act in synergy to reduce receptor function in heterozygous familial hypercholesterolemia. Hum. Mutat. 9: 437-444, 1997.
[0020105]10693.Jensen, J. M.; Kruse, T. A.; Brorholt-Petersen, J. U.; Christiansen, T. M.; Jensen, H. K.; Kolvraa, S.; Faergeman, O.: Linking genotype to aorto-coronary atherosclerosis: a model using familial hypercholesterolemia and aorto-coronary calcification. Ann. Hum. Genet. 63: 511-520, 1999.
[0020106]10694.Kajinami, K.; Fujita, H.; Koizumi, J.; Mabuchi, H.; Takeda, R.; Ohta, M.: Genetically determined mild type of familial hypercholesterolemia including normocholesterolemic patients: FHTonami-2. Circulation 80 (suppl. 2): 278 only, 1989.
[0020107]10695.Kajinami, K.; Mabuchi, H.; Itoh, H.; Michishita, I.; Takeda, M.; Wakasugi, T.; Koizumi, J.; Takeda, R.: New variant of low density lipoprotein receptor gene FH-Tonami. Arteriosclerosis 8: 187-192, 1988.
[0020108]10696.Suvorova, E. S.; Kurten, R. C.; Lupashin, V. V.: Identification of a human orthologue of Sec34p as a component of the cis-Golgi vesicle tethering machinery. J. Biol. Chem. 276: 22810-22818, 2001.
[0020109]10697.Whyte, J. R. C.; Munro, S.: The Sec34/35 Golgi transport complex is related to the exocyst, defining a family of complexes involved in multiple steps of membrane traffic. Dev. Cell 1: 527-537, 2001.
[0020110]10698.Haataja, L.; Groffen, J.; Heisterkamp, N.: Identification of a novel Rac3-interacting protein C1D. Int. J. Molec. Med. 1: 665-670, 1998.
[0020111]10699.Nehls, P.; Keck, T.; Greferath, R.; Spiess, E.; Glaser, T.; Rothbarth, K.; Stammer, H.; Werner, D.: cDNA cloning, recombinant expression and characterization of polypeptides with exceptional DNA affinity. Nucleic Acids Res. 26: 1160-1166, 1998.
[0020112]10700.Rothbarth, K.; Hunziker, A.; Stammer, H.; Werner, D.: Promoter of the gene encoding the 16 kDa DNA-binding and apoptosis-inducing C1D protein. Biochim. Biophys. Acta 1518: 271-275, 2001.
[0020113]10701.Zamir, I.; Dawson, J.; Lavinsky, R. M.; Glass, C. K.; Rosenfeld, M. G.; Lazar, M. A.: Cloning and characterization of a corepressor and potential component of the nuclear hormone receptor repression complex. Proc. Nat. Acad. Sci. 94: 14400-14405, 1997.
[0020114]10702.Nguyen, L. H.; Erzberger, J. P.; Root, J.; Wilson, D. M., III: The human homolog of Escherichia coli Orn degrades small single-stranded RNA and DNA oligomers. J. Biol. Chem. 275: 25900-25906, 2000.
[0020115]10703.Bayani, J.; et al.; et al: Molecular cytogenetic analysis of medulloblastomas and supratentorial primitive neuroectodermal tumors by using conventional banding, comparative genomic hybridization, and spectral karyotyping. J. Neurosurg. 93: 437-448, 2000.
[0020116]10704.Grimm, T.; Teglund, S.; Tackels, D.; Sangiorgi, E.; Gurrieri, F.; Schwartz, C.; Toftgard, R.: Genomic organization and embryonic expression of Suppressor of Fused, a candidate gene for the split-hand/split-foot malformation type 3. FEBS Lett. 505: 13-17, 2001.
[0020117]10705.Stone, D. M.; Murone, M.; Luoh, S.-M.; Ye, W.; Armanini, M. P.; Gurney, A.; Phillips, H.; Brush, J.; Goddard, A.; de Sauvage, F. J.; Rosenthal, A.: Characterization of the human suppressor of fused, a negative regulator of the zinc-finger transcription factor Gli. J. Cell Sci. 112: 4437-4448, 1999.
[0020118]10706.Nagle, D. L.; McGrail, S. H.; Vitale, J.; Woolf, E. A.; Dussault, B. J., Jr.; DiRocco, L.; Holmgren, L.; Montagno, J.; Bork, P.; Huszar, D.; Fairchild-Huntress, V.; Ge, P.; Keilty, J.; Ebelling, C.; Baldini, L.; Gilchrist, J.; Burr, P.; Carlson, G. A.; Moore, K. J.: The mahogany protein is a receptor involved in suppression of obesity. Nature 398: 148-151, 1999.
[0020119]10707.Zhang, Y.; Ng, H.-H.; Erdjument-Bromage, H.; Tempst, P.; Bird, A.; Reinberg, D.: Analysis of the NuRD subunits reveals a histone deacetylase core complex and a connection with DNA methylation. Genes Dev. 13: 1924-1935, 1999.
[0020120]10708.Takafuta, T.; Wu, G.; Murphy, G. F.; Shapiro, S. S.: Human beta-filamin is a new protein that interacts with the cytoplasmic tail of glycoprotein Ib-alpha. J. Biol. Chem. 273: 17531-17538, 1998.
[0020121]10709.Van Gennip, A. H.; Mandel, H.; Stroomer, L. E.; van Cruchten, A. G.: Effect of allopurinol on the xanthinuria in a patient with molybdenum cofactor deficiency. Adv. Exp. Med. Biol. 370: 375-378, 1994.
[0020122]10710.Margolin, J. F.; Friedman, J. R.; Meyer, W. K.; Vissing, H.; Thiesen, H.-J.; Rauscher, F. J., III: Kruppel-associated boxes are potent transcriptional repression domains. Proc. Nat. Acad. Sci. 91: 4509-4513, 1994.
[0020123]10711.Pineda, M.; Fernandez, E.; Torrents, D.; Estevez, R.; Lopez, C.; Camps, M.; Lloberas, J.; Zorzano, A.; Palacin, M.: Identification of a membrane protein, LAT-2, that co-expresses with 4F2 heavy chain, an L-type amino acid transport activity with broad specificity for small and large zwitterionic amino acids. J. Biol. Chem. 274: 19738-19744, 1999.
[0020124]10712.Alexander, W. S.; Rakar, S.; Robb, L.; Farley, A.; Willson, T. A.; Zhang, J.-G.; Hartley, L.; Kikuchi, Y.; Kojima, T.; Nomura, H.; Hasegawa, M.; Maeda, M.; Fabri, L.; Jachno, K.; Nash, A.; Metcalf, D.; Nicola, N. A.; Hilton, D. J.: Suckling defect in mice lacking the soluble haemopoietin receptor NR6. Curr. Biol. 9: 605-608, 1999.
[0020125]10713.Elson, G. C. A.; Graber, P.; Losberger, C.; Herren, S.; Gretener, D.; Menoud, L. N.; Wells, T. N. C.; Kosco-Vilbois, M. H.; Gauchat, J.-F.: Cytokine-like factor-1, a novel soluble protein, shares homology with members of the cytokine type I receptor family. J. Immun. 161: 1371-1379, 1998.
[0020126]10714.Grau, Y.; Carteret, C.; Simpson, P.: Mutations and chromosomal rearrangements affecting the expression of snail, a gene involved in embryonic patterning in Drosophila melanogaster. Genetics 108: 347-360, 1984.
[0020127]10715.Okubo, T.; Truong, T. K.; Yu, B.; Itoh, T.; Zhao, J.; Grube, B.; Zhou, D.; Chen, S.: Down-regulation of promoter I.3 activity of the human aromatase gene in breast tissue by zinc-finger protein, snail (SnaH). Cancer Res. 15: 1338-1346, 2001.
[0020128]10716.Paznekas, W. A.; Okajima, K.; Schertzer, M.; Wood, S.; Jabs, E. W.: Genomic organization, expression, and chromosome location of the human SNAIL gene (SNAI1) and a related processed pseudogene (SNAI1P). Genomics 62: 42-49, 1999.
[0020129]10717.Sefton, M.; Sanchez, S.; Nieto, M. A.: Conserved and divergent roles for members of the Snail family of transcription factors in the chick and mouse embryo. Development 124: 125:-3111-3121, 1998.
[0020130]10718.Twigg, S. R. F.; Wilkie, A. O. M.: Characterisation of the human snail (SNAI1) gene and exclusion as a major disease gene in craniosynostosis. Hum. Genet. 105: 320-326, 1999.
[0020131]10719.Shalata, A.; Mandel, H.; Reiss, J.; Szargel, R.; Cohen-Akenine, A.; Dorche, C.; Zabot, M.-T.; Van Gennip, A.; Abeling, N.; Berant, M.; Cohen, N.: Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mapping. Am. J. Hum. Genet. 63: 148-154, 1998.
[0020132]10720.Hinderlich, S.; Stasche, R.; Zeitler, R.; Reutter, W.: A bifunctional enzyme catalyzes the first two steps in N-acetylneuraminic acid biosynthesis of rat liver: purification and characterization of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase. J. Biol. Chem. 272: 24313-24318, 1997.
[0020133]10721.Huizing, M.; Anikster, Y.: Personal Communication. Bethesda, Md. 1/10/2000.
[0020134]10722.Kayashima, T.; Matsuo, H.; Satoh, A.; Ohta, T.; Yoshiura, K.; Matsumoto, N.; Nakane, Y.; Niikawa, N.; Kishino, T.: Nonaka myopathy is caused by mutations in the UDP-Nacetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE). J. Hum. Genet. 47: 77-79, 2002.
[0020135]10723.Keppler, O. T.; Hinderlich, S.; Langner, J.; Schwartz-Albiez, R.; Reutter, W.; Pawlita, M.: UDP-GlcNAc 2-epimerase: a regulator of cell surface sialylation. Science 284: 1372-1376, 1999.
[0020136]10724.Nonaka, I.; Sunohara, N.; Ishiura, S.; Satoyoshi, E.: Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation. J. Neurol. Sci. 51: 141-155, 1981.
[0020137]10725.Schwarzkopf, M.; Knobeloch, K.-P.; Rohde, E.; Hinderlich, S.; Wiechens, N.; Lucka, L.; Horak, I.; Reutter, W.; Horstkorte, R.: Sialylation is essential for early development in mice. Proc. Nat. Acad. Sci. 99: 5267-5270, 2002.
[0020138]10726.Stasche, R.; Hinderlich, S.; Weise, C.; Effertz, K.; Lucka, L.; Moormann, P.; Reutter, W.: A bifunctional enzyme catalyzes the first two steps in N-acetylneuraminic acid biosynthesis of rat liver: molecular cloning and functional expression of UDP-N-acetyl-glucosamine 2-epimerase/Nacetylmannosamine kinase. J. Biol. Chem. 272: 24319-24324, 1997.
[0020139]10727.Carter, M. G.; Johns, M. A.; Zeng, X.; Zhou, L.; Zink, M. C.; Mankowski, J. L.; Donovan, D. M.; Baylin, S. B.: Mice deficient in the candidate tumor suppressor gene Hic1 exhibit developmental defects of structures affected in the Miller-Dieker syndrome. Hum. Molec. Genet. 9: 413-419, 2000.
[0020140]10728.Chong, S. S.; Tanigami, A.; Roschke, A. V.; Ledbetter, D. H.: 14-3-3epsilon has no homology to LIS1 and lies telomeric to it on chromosome 17p13.3 outside the Miller-Dieker syndrome chromosome region. Genome Res. 6: 735-741, 1996.
[0020141]10729.Grimm, C.; Sporle, R.; Schmid, T. E.; Adler, I.-D.; Adamski, J.; Schughart, K.; Graw, J.: Isolation and embryonic expression of the novel mouse gene Hic1, the homologue of HIC1, a candidate gene for the Miller-Dieker syndrome. Hum. Molec. Genet. 8: 697-710, 1999.
[0020142]10730.Makos Wales, M.; Biel, M. A.; El Deiry, W.; Nelkin, B. D.; Issa, J.-P.; Cavenee, W. K.; Kuerbitz, S. J.; Baylin, S. B.: p53 activates expression of HIC-1, a new candidate tumour suppressor gene on 17p13.3. Nature Med. 1: 570-577, 1995.
[0020143]10731.Smith, D. J.; Salmi, M.; Bono, P.; Hellman, J.; Leu, T.; Jalkanen, S.: Cloning of vascular adhesion protein 1 reveals a novel multifunctional adhesion molecule. J. Exp. Med. 188: 17-27, 1998.
[0020144]10732.Zhang, X.; McIntire, W. S.: Cloning and sequencing of a copper-containing, topa quinone-containing monoamine oxidase from human placenta. Gene 179: 279-286, 1996.
[0020145]10733.Lomako, J.; Mazuruk, K.; Lomako, W. M.; Alonso, M. D.; Whelan, W. J.; Rodriguez, I. R.: The human intron-containing gene for glycogenin maps to chromosome 3, band q24. Genomics 33: 519-522, 1996.
[0020146]10734.Tanaka, T.; Tsujimura, T.; Takeda, K.; Sugihara, A.; Maekawa, A.; Terada, N.; Yoshida, N.; Akira, S.: Targeted disruption of ATF4 discloses its essential role in the formation of eye lens fibres. Genes Cells 3: 801-810, 1998.
[0020147]10735.Maas, S.; Gerber, A. P.; Rich, A.: Identification and characterization of a human tRNA-specific adenosine deaminase related to the ADAR family of pre-mRNA editing enzymes. Proc. Nat. Acad. Sci. 96: 8895-8900, 1999.
[0020148]10736.Viskupic, E.; Cao, Y.; Zhang, W.; Cheng, C.; DePaoli-Roach, A. A.; Roach, P. J.: Rabbit skeletal muscle glycogenin. Molecular cloning and production of fully functional protein in Escherichia coli. J. Biol. Chem. 267: 25759-25763, 1992.
[0020149]10737.Hosokawa, Y.; Matsumoto, A.; Oka, J.; Itakura, H.; Yamaguchi, K. : Isolation and characterization of a cDNA for rat liver cysteine dioxygenase. Biochem. Biophys. Res. Commun. 168: 473-478, 1990.
[0020150]10738.Jeremiah, S.; McCann, K. P.; Williams, A. C.; Ramsden, D. B.; Pilz, A. J.; Fox, M. F.; Povey, S.: Chromosomal localisation of genes coding for human and mouse liver cytosolic cysteine dioxygenase. Ann. Hum. Genet. 60: 29-33, 1996.
[0020151]10739.McCann, K. P.; Akbari, M. T.; Williams, A. C.; Ramsden, D. B.: Human cysteine dioxygenase type I: primary structure derived from base sequencing of cDNA. Biochim. Biophys. Acta 1209: 107-110, 1994.
[0020152]10740.Ramsden, D. B.; Kapadi, A.; Fitch, N. J. S.; Farmer, M. J.; Bennett, P.; Williams, A. C.: Human cysteine dioxygenase type I (CDO-I; EC 1.13.11.20): 5-prime flanking region and intron-exon structure of the gene. Molec. Path. 50: 269-271, 1997.
[0020153]10741.Nelen, M. R.; van Staveren, W. C. G.; Peeters, E. A. J.; Ben Hassel, M.; Gorlin, R. J.; Hamm, H.; Lindboe, C. F.; Fryns, J.-P.; Sijmons, R. H.; Woods, D. G.; Mariman, E. C. M.; Padberg, G. W.; Kremer, H. : Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. Hum. Molec. Genet. 6: 1383-1387, 1997.
[0020154]10742.Fox, M. F.; Lahbib, F.; Pratt, W.; Attwood, J.; Gum, J.; Kim, Y.; Swallow, D. M.: Regional localization of the intestinal mucin gene MUC3 to chromosome 7q22. Ann. Hum. Genet. 56: 281-287, 1992.
[0020155]10743.Kyo, K.; Muto, T.; Nagawa, H.; Lathrop, G. M.; Nakamura, Y.: Associations of distinct variants of the intestinal mucin gene MUC3A with ulcerative colitis and Crohn's disease. J. Hum. Genet. 46: 5-20, 2001.
[0020156]10744.Caro, A.; Haines, S.: The history of Huntington's chorea. Update 91-95, 7/1975.
[0020157]10745.Swallow, D. M.; Povey, S.; Goodfellow, P. N. G.; Andrews, P.; Harris, H.: The liver/bone/kidney isozyme of alkaline phosphatase (ALPL) is coded by a gene on chromosome 1. (Abstract) Cytogenet. Cell Genet. 40: 756 only, 1985.
[0020158]10746.Zou, Y.-R.; Kottmann, A. H.; Kuroda, M.; Taniuchi, I.; Littman, D. R.: Function of the chemokine receptor CXCR4 in haematopoiesis and in cerebellar development. Nature 393: 595-599, 1998.
[0020159]10747.Bean, A. J.; Dagerlind, A.; Hokfelt, T.; Dobner P. R.: Cloning of human neurotensin/neuromedin N genomic sequences and expression in the ventral mesencephalon of schizophrenics and age/sex matched controls. Neuroscience 50: 259-268, 1992.
[0020160]10748.Dong, Z.; Wang, X.; Zhao, Q.; Townsend, C. M., Jr.; Evers, B. M. : DNA methylation contributes to expression of the human neurotensin/neuromedin N gene. Am. J. Physiol. 274: G535-G543, 1998.
[0020161]10749.Gerhard, D. S.; Dobner, P. R.; Bruns, G. A. P.: Localization of the neurotensin gene to human chromosome 12. (Abstract) Cytogenet. Cell Genet. 51: 1003 only, 1989.
[0020162]10750.Mai, J. K.; Triepel, J.; Metz, J.: Neurotensin in human brain. Neuroscience 22: 499-524, 1987.
[0020163]10751.Marondel, I; Renault, B.; Lieman, J.; Ward, D.; Kucherlapati, R. : Physical mapping of the human neurotensin gene (NTS) between markers D12S1444 and D12S81 on chromosome 12q21. Genomics 38: 243-245, 1996.
[0020164]10752.Laurent, P.; Clerc, P.; Mattei, M.-G.; Forgez, P.; Dumont, X.; Ferrara, P.; Caput, D.; Rostene, W.: Chromosomal localization of mouse and human neurotensin receptor genes. Mammalian Genome 5: 303-306, 1994.
[0020165]10753.Le, F.; Groshan, K.; Zeng, X. P.; Richelson, E.: Characterization of the genomic structure, promoter region, and a tetranucleotide repeat polymorphism of the human neurotensin receptor gene. J. Biol. Chem. 272: 1315-1322, 1997.
[0020166]10754.Vincent, J.-P.: Neurotensin receptors: binding properties, transduction pathways, and structure. Cell. Molec. Neurobiol. 15: 501-512, 1995.
[0020167]10755.Vita, N.; Laurent, P.; Lefort, S.; Chalon, P.; Dumont, X.; Kaghad, M.; Gully, D.; Le Fur, G.; Ferrara, P.; Caput, D.: Cloning and expression of a complementary DNA encoding a high affinity human neurotensin receptor. FEBS Lett. 317: 139-142, 1993.
[0020168]10756.Bluteau, O.; Jeannot, E.; Bioulac-Sage, P.; Marques, J. M.; Blanc, J.-F.; Bui, H.; Beaudoin, J.-C.; Franco, D.; Balabaud, C.; Laurent-Puig, P.; Zucman-Rossi, J.: Bi-allelic inactivation of TCF1 in hepatic adenomas. Nature Genet. 32: 312-315, 2002.
[0020169]10757.Foster, J. H.; Donohue, T. A.; Berman, M. M.: Familial liver-cell adenomas and diabetes mellitus. New Eng. J. Med. 299: 239-241, 1978.
[0020170]10758.Blinder, M. A.; Andersson, T. R.; Abildgaard, U.; Tollefsen, D. M.: Heparin cofactor II(Oslo): mutation of arg-189-to-his decreases the affinity for dermatan sulfate. J. Biol. Chem. 264: 5128-5133, 1989.
[0020171]10759.Blinder, M. A.; Marasa, J. C.; Reynolds, C. H.; Deaven, L. L.; Tollefsen, D. M.: Heparin cofactor II: cDNA sequence, chromosome localization, restriction fragment length polymorphism, and expression in Escherichia coli. Biochemistry 27: 752-759, 1988.
[0020172]10760.Herzog, R.; Lutz, S.; Blin, N.; Marasa, J. C.; Blinder, M. A.; Tollefsen, D. M.: Complete nucleotide sequence of the gene for human heparin cofactor II and mapping to chromosomal band 22q11. Biochemistry 30: 1350-1357, 1991.
[0020173]10761.Kondo, S.; Tokunaga, F.; Kario, K.; Matsuo, T.; Koide, T.: Molecular and cellular basis for type I heparin cofactor II deficiency (heparin cofactor II Awaji). Blood 87: 1006-1012, 1996.
[0020174]10762.Matsuo, T.; Kario, K.; Sakamoto, S.; Yamada, T.; Miki, T.; Hirase, T.; Kobayashi, H.: Hereditary heparin cofactor II deficiency and coronary artery disease. Thromb. Res. 65: 495-505, 1992.
[0020175]10763.Ragg, H.: A new member of the plasma protease inhibitor gene family. Nucleic Acids Res. 14: 1073-1088, 1986.
[0020176]10764.Sie, P.; Dupouy, D.; Pichon, J.; Boneu, B.: Constitutional heparin co-factor II deficiency associated with recurrent thrombosis. Lancet II: 414-416, 1985.
[0020177]10765.Tran, T. H.; Marbet, G. A.; Duckert, F.: Association of hereditary heparin co-factor II deficiency with thrombosis. Lancet II: 413-414, 1985.
[0020178]10766.Villa, P.; Aznar, J.; Vaya, A.; Espana, F.; Ferrando, F.; Mira, Y.; Estelles, A.: Hereditary homozygous heparin cofactor II deficiency and the risk of developing venous thrombosis. Thromb. Haemost. 82: 1011-1014, 1999.
[0020179]10767.Quintrell, N.; Lebo, R.; Varmus, H.; Bishop, J. M.; Pettenati, M. J.; Le Beau, M. M.; Diaz, M. O.; Rowley, J. D.: Identification of a human gene (HCK) that encodes a protein-tyrosine kinase and is expressed in hemopoietic cells. Molec. Cell. Biol. 7: 2267-2275, 1987.
[0020180]10768.Ziegler, S. F.; Marth, J. D.; Lewis, D. B.; Perlmutter, R. M.: Novel protein-tyrosine kinase gene (hck) preferentially expressed in cells of hematopoietic origin. Molec. Cell. Biol. 7: 2276-2285, 1987.
[0020181]10769.Hitzler, J. K.; Soares, H. D.; Drolet, D. W.; Inaba, T.; O'Connel, S.; Rosenfeld, M. G.; Morgan, J. I.; Look, A. T.: Expression patterns of the hepatic leukemia factor gene in the nervous system of developing and adult mice. Brain Res. 820: 1-11, 1999.
[0020182]10770.Honda, H.; Inaba, T.; Suzuki, T.; Oda, H.; Ebihara, Y.; Tsuiji, K.; Nakahata, T.; Ishikawa, T.; Yazaki, Y.; Hirai, H.: Expression of E2A-HLF chimeric protein induced T-cell apoptosis, B-cell maturation arrest, and development of acute lymphoblastic leukemia. Blood 93: 2780-2790, 1999.
[0020183]10771.Hunger, S. P.: Chromosomal translocations involving the E2A gene in acute lymphoblastic leukemia: clinical features and molecular pathogenesis. Blood 87: 1211-1224, 1996.
[0020184]10772.Inaba, T.; Roberts, W. M.; Shapiro, L. H.; Jolly, K. W.; Raimondi, S. C.; Smith, S. D.; Look, A. T.: Fusion of the leucine zipper gene HLF to the E2A gene in human acute B-lineage leukemia. Science 257: 531-534, 1992.
[0020185]10773.Smith, K. S.; Rhee, J. W.; Naumovski, L.; Cleary, M. L.: Disrupted differentiation and oncogenic transformation of lymphoid progenitors in E2A-HLF transgenic mice. Molec. Cell. Biol. 19: 4443-4451, 1999.
[0020186]10774.Gripp, K. W.; Wotton, D.; Edwards, M. C.; Roessler, E.; Ades, L.; Meinecke, P.; Richieri-Costa, A.; Zackai, E. H.; Massague, J.; Muenke, M.; Elledge, S. J.: Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination. Nature Genet. 25: 205-208, 2000.
[0020187]10775.Nanni, L.; Ming, J. E.; Bocian, M.; Steinhaus, K.; Bianchi, D. W.; de Die-Smulders, C.; Giannotti, A.; Imaizumi, K.; Jones, K. L.; Del Campo, M.; Martin, R. A.; Meinecke, P.; Pierpont, M. E. M.; Robin, N. H.; Young, I. D.; Roessler, E.; Muenke, M.: The mutational spectrum of the Sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. Hum. Molec. Genet. 8: 2479-2488, 1999.
[0020188]10776.Acampora, D.; D'Esposito, M.; Faiella, A.; Pannese, M.; Migliaccio, E.; Morelli, F.; Stornaiuolo, A.; Nigro, V.; Simeone, A.; Boncinelli, E.: The human HOX gene family. Nucleic Acids Res. 17: 10385-10402, 1989.
[0020189]10777.Balling, R.; Mutter, G.; Gruss, P.; Kessel, M.: Craniofacial abnormalities induced by ectopic expression of the homeobox gene Hox-1.1 in transgenic mice. Cell 58: 337-347, 1989.
[0020190]10778.Bucan, M.; Yang-Feng, T.; Colberg-Poley, A. M.; Wolgemuth, D. J.; Guenet, J.-L.; Francke, U.; Lehrach, H.: Genetic and cytogenetic localisation of the homeo box containing genes on mouse chromosome 6 and human chromosome 7. EMBO J. 5: 2899-2905, 1986.
[0020191]10779.Ferguson-Smith, A. C.; Fienberg, A.; Ruddle, F. H.: Isolation, chromosomal localization, and nucleotide sequence of the human HOX 1.4 homeobox. Genomics 5: 250-258, 1989.
[0020192]10780.Gaunt, S. J.; Singh, P. B.: Homeogene expression patterns and chromosomal imprinting. Trends Genet. 6: 208-212, 1990.
[0020193]10781.Gehring, W. J.: The homeo box: a key to the understanding of development? Cell 40: 3-5, 1985.
[0020194]10782.Joyner, A. L.; Lebo, R. V.; Kan, Y. W.; Tjian, R.; Cox, D. R.; Martin, G. R.: Comparative chromosome mapping of a conserved homoeo box region in mouse and human. Nature 314: 173-175, 1985.
[0020195]10783.McGinnis, W.; Garber, R. L.; Wirz, J.; Kuroiwa, A.; Gehring, W. J.: A homologous protein-coding sequence in Drosophila homeotic genes and its conservation in other metazoans. Cell 37: 403-408, 1984.
[0020196]10784.McGinnis, W.; Levine, M. S.; Hafen, E.; Kuroiwa, A.; Gehring, W. J.: A conserved DNA sequence in homoeotic genes of the Drosophila Antennapedia and bithorax complexes. Nature 308: 428-433, 1984.
[0020197]10785.Ohno, S.: Evolution by Gene Duplication. Heidelberg: Springer (pub.) 1970.
[0020198]10786.Rabin, M.; Ferguson-Smith, A.; Hart, C. P.; Ruddle, F. H.: Cognate homeo-box loci mapped on homologous human and mouse chromosomes. Proc. Nat. Acad. Sci. 83: 9104-9108, 1986.
[0020199]10787.Rabin, M.; Hart, C. P.; Ferguson-Smith, A.; McGinnis, W.; Levine, M.; Ruddle, F. H.: Two homoeo box loci mapped in evolutionarily related mouse and human chromosomes. Nature 314: 175-178, 1985.
[0020200]10788.Rieger, R.; Michaelis, A.; Green, M. M.: Glossary of Genetics and Cytogenetics. New York: Springer-Verlag (pub.) 1976. Pp. 281 only.
[0020201]10789.Schughart, K.; Kappen, C.; Ruddle, F. H.: Duplication of large genomic regions during the evolution of vertebrate homeobox genes. Proc. Nat. Acad. Sci. 86: 7067-7071, 1989.
[0020202]10790.Scott, M. P.: Vertebrate homeobox gene nomenclature. (Letter) Cell 71: 551-553, 1992.
[0020203]10791.Greer, J. M.; Puetz, J.; Thomas, K. R.; Capecchi, M. R.: Maintenance of functional equivalence during paralogous Hox gene evolution. Nature 403: 661-665, 2000.
[0020204]10792.Apiou, F.; Flagiello, D.; Cillo, C.; Malfoy, B.; Poupon, M.-F.; Dutrillaux, B.: Fine mapping of human HOX gene clusters. Cytogenet. Cell Genet. 73: 114-115, 1996.
[0020205]10793.Chan, H. Y. E.; Warrick, J. M.; Gray-Board, G. L.; Paulson, H. L.; Bonini, N. M.: Mechanisms of chaperone suppression of polyglutamine disease: selectivity, synergy and modulation of protein solubility in Drosophila. Hum. Molec. Genet. 9: 2811-2820, 2000.
[0020206]10794.Chandler, J. H.; Reed, T. E.; Dejong, R. N.: Huntington's chorea in Michigan. Neurology 10: 148-153, 1960.
[0020207]10795.Chase, T. N.; Wexler, N. S.; Barbeau, A.: Huntington's Disease. Advances in Neurology. New York: Raven Press (pub.) 23: 1979.
[0020208]10796.Chen, S.; Ferrone, F. A.; Wetzel, R.: Huntington's disease age-of-onset linked to polyglutamine aggregation nucleation. Proc. Nat. Acad. Sci. 99: 11884-11889, 2002.
[0020209]10797.Cheng, S. V.; Martin, G. R.; Nadeau, J. H.; Haines, J. L.; Bucan, M.; Kozak, C. A.; MacDonald, M. E.; Lockyer, J. L.; Ledley, F. D.; Woo, S. L. C.; Lehrach, H.; Gilliam, T. C.; Gusella, J. F.: Synteny on mouse chromosome 5 of homologs for human DNA loci linked to the Huntington disease gene. Genomics 4: 419-426, 1989.
[0020210]10798.Chong, S. S.; Almqvist, E.; Telenius, H.; LaTray, L.; Nichol, K.; Bourdelat-Parks, B.; Goldberg, Y. P.; Haddad, B. R.; Richards, F.; Sillence, D.; Greenberg, C. R.; Ives, E.; Van den Engh, G.; Hughes, M. R.; Hayden, M. R.: Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: evidence from single sperm analyses. Hum. Molec. Genet. 6: 301-309, 1997.
[0020211]10799.Clarke, G.; Collins, R. A.; Leavitt, B. R.; Andrews, D. F.; Hayden, M. R.; Lumsden, C. J.; McInnes, R. R.: A one-hit model of cell death in inherited neuronal degenerations. Nature 406: 195-199, 2000.
[0020212]10800.Coles, R.; Leggo, J.; Rubinsztein, D. C.: Analysis of the 5-prime upstream sequence of the Huntington's disease (HD) gene shows six new rare alleles which are unrelated to the age at onset of HD. J. Med. Genet. 34: 371-374, 1997.
[0020213]10801.Collins, F. S.; Richards, J. E.; Cole, J. L.; Gilliam, T. C.; Gusella, J. F.: Chromosome jumping from D4S10 (G8) toward the Huntington disease gene. (Abstract) Cytogenet. Cell Genet. 46: 597, 1987.
[0020214]10802.Conneally, P. M.: Huntington disease: genetics and epidemiology. Am. J. Hum. Genet. 36: 506-526, 1984.
[0020215]10803.Conneally, P. M.; Haines, J. L.; Tanzi, R. E.; Wexler, N. S.; Penchaszadeh, G. K.; Harper, P. S.; Folstein, S. E.; Cassiman, J. J.; Myers, R. H.; Young, A. B.; Hayden, M. R.; Falek, A.; Tolosa, E. S.; Crespi, S.; Di Maio, L.; Holmgren, G.; Anvret, M.; Kanazawa, I.; Gusella, J. F.: Huntington disease: no evidence for locus heterogeneity. Genomics 5: 304-308, 1989.
[0020216]10804.Craufurd, D.; Dodge, A.; Kerzin-Storrar, L.; Harris, R.: Uptake of presymptomatic predictive testing for Huntington's disease. Lancet II: 603-605, 1989.
[0020217]10805.Critchley, M.: Great Britain and the early history of Huntington's chorea. Advances in Neurology. New York: Raven Press (pub.) 1: 1973.
[0020218]10806.Critchley, M.: The history of Huntington's chorea. (Editorial) Psych. Med. 14: 725-727, 1984.
[0020219]10807.Davies, S. W.; Turmaine, M.; Cozens, B. A.; DiFiglia, M.; Sharp, A. H.; Ross, C. A.; Scherzinger, E.; Wanker, E. E.; Mangiarini, L.; Bates, G. P.: Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation. Cell 90: 537-548, 1997.
[0020220]10808.Decruyenaere, M.; Evers-Kiebooms, G.; Boogaerts, A.; Cassiman, J.-J.; Cloostermans, T.; Demyttenaere, K.; Dom, R.; Fryns, J.-P.; Van den Berghe, H.: Prediction of psychological functioning one year after the predictive test for Huntington's disease and impact of the test result on reproductive decision making. J. Med. Genet. 33: 737-743, 1996.
[0020221]10809.De Rooij, K. E.; Dorsman, J. C.; Smoor, M. A.; den Dunnen, J. T.; Van Ommen, G.-J. B.: Subcellular localization of the Huntington's disease gene product in cell lines by immunofluorescence and biochemical subcellular fractionation. Hum. Molec. Genet. 5: 1093-1099, 1996.
[0020222]10810.DiFiglia, M.; Sapp, E.; Chase, K. O.; Davies, S. W.; Bates, G. P.; Vonsattel, J. P.; Aronin, N.: Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain. Science 277: 1990-1993, 1997.
[0020223]10811.Doggett, N. A.; Cheng, J.-F.; Smith, C. L.; Cantor, C. R.: The Huntington disease locus is most likely within 325 kilobases of the chromosome 4p telomere. Proc. Nat. Acad. Sci. 86: 10011-10014, 1989.
[0020224]10812.Dunah, A. W.; Jeong, H.; Griffin, A.; Kim, Y.-M.; Standaert, D. G.; Hersch, S. M.; Mouradian, M. M.; Young, A. B.; Tanese, N.; Krainc, D.: Sp1 and TAFII130 transcriptional activity disrupted in early Huntington's disease. Science 296: 2238-2243, 2002.
[0020225]10813.Durbach, N.; Hayden, M. R.: George Huntington: the man behind the eponym. J. Med. Genet. 30: 406-409, 1993.
[0020226]10814.Dure, L. S., IV; Landwehrmeyer, G. B.; Golden, J.; McNeil, S. M.; Ge, P.; Aizawa, H.; Huang, Q.; Ambrose, C. M.; Duyao, M. P.; Bird, E. D.; DiFiglia, M.; Gusella, J. F.; MacDonald, M. E.; Penney, J. B.; Young, A. B.; Vonsattel, J.-P.: IT15 gene expression in fetal human brain. Brain Res. 659: 33-41, 1994.
[0020227]10815.Duyao, M.; Ambrose, C.; Myers, R.; Novelletto, A.; Persichetti, F.; Frontali, M.; Folstein, S.; Ross, C.; Franz, M.; Abbott, M.; Gray, J.; Conneally, P.; and 30 others: Trinucleotide repeat length instability and age of onset in Huntington's disease. Nature Genet. 4: 387-392, 1993.
[0020228]10816.Duyao, M. P.; Auerbach, A. B.; Ryan, A.; Persichetti, F.; Barnes, G. T.; McNeil, S. M.; Ge, P.; Vonsattel, J.-P.; Gusella, J. F.; Joyner, A. L.; MacDonald, M. E.: Inactivation of the mouse Huntington's disease gene homolog Hdh. Science 269: 407-410, 1995.
[0020229]10817.Dyer, R. B.; McMurray, C. T.: Mutant protein in Huntington disease is resistant to proteolysis in affected brain. Nature Genet. 29: 270-278, 2001.
[0020230]10818.Enna, S. J.; Bird, E. D.; Bennett, J. P., Jr.; Bylund, D. B.; Yamamura, H. I.; Iversen, L. L.; Snyder, S. H.: Huntington's chorea: changes in neurotransmitter receptors in the brain. New Eng. J. Med. 294: 1305-1309, 1976.
[0020231]10819.Erickson, R. P.: Chromosomal imprinting and the parent transmission specific variation in expressivity of Huntington disease. (Letter) Am. J. Hum. Genet. 37: 827-829, 1985.
[0020232]10820.Faber, P. W.; Barnes, G. T.; Srinidhi, J.; Chen, J.; Gusella, J. F.; MacDonald, M. E.: Huntingtin interacts with a family of WW domain proteins. Hum. Molec. Genet. 7: 1463-1474, 1998.
[0020233]10821.Man in't Veld, A. J.; Boomsma, F.; Moleman, P.; Schalekamp, M. A. D. H.: Congenital dopamine-beta-hydroxylase deficiency: a novel orthostatic syndrome. Lancet I: 183-188, 1987.
[0020234]10822.Robertson, D.; Goldberg, M. R.; Onrot, J.; Hollister, A. S.; Wiley, R.; Thompson, J. G., Jr.; Robertson, R. M.: Isolated failure of autonomic noradrenergic neurotransmission: evidence for impaired beta-hydroxylation of dopamine. New Eng. J. Med. 314: 1494-1497, 1986.
[0020235]10823.Ogawa, O.; McNoe, L. A.; Eccles, M. R.; Morison, I. M.; Reeve, A. E.: Human insulin-like growth factor type I and type II receptors are not imprinted. Hum. Molec. Genet. 2: 2163-2165, 1993.
[0020236]10824.Oshima, A.; Nolan, C. M.; Kyle, J. W.; Grubb, J. H.; Sly, W. S. : The human cationindependent mannose 6-phosphate receptor: cloning and sequence of the full-length cDNA and expression of functional receptor in COS cells. J. Biol. Chem. 263: 2553-2562, 1988.
[0020237]10825.Puertollano, R.; Aguilar, R. C.; Gorshkova, I.; Crouch, R. J.; Bonifacino, J. S.: Sorting of mannose 6-phosphate receptors mediated by the GGAs. Science 292: 1712-1716, 2001.
[0020238]10826.Rao, P. H.; Murty, V. V. V. S.; Gaidano, G.; Hauptschein, R.; Dalla-Favera, R.; Chaganti, R. S. K.: Subregional mapping of 8 single copy loci to chromosome 6 by fluorescence in situ hybridization. Cytogenet. Cell Genet. 66: 272-273, 1994.
[0020239]10827.Roth, R. A.: Structure of the receptor for insulin-like growth factor II: the puzzle amplified. Science 239: 1269-1271, 1988.
[0020240]10828.Sleutels, F.; Zwart, R.; Barlow, D. P.: The non-coding Air RNA is required for silencing autosomal imprinted genes. Nature 415: 810-813, 2002.
[0020241]10829.Souza, R. F.; Appel, R.; Yin, J.; Wang, S.; Smolinski, K. N.; Abraham, J. M.; Zou, T.-T.; Shi, Y.-Q.; Lei, J.; Cottrell, J.; Cymes, K.; Biden, K.; Simms, L.; Leggett, B.; Lynch, P. M.; Frazier, M.; Powell, S. M.; Harpaz, N.; Sugimura, H.; Young, J.; Meltzer, S. J. : Microsatellite instability in the insulin-like growth factor II receptor gene in gastrointestinal tumours. (Letter) Nature Genet. 14: 255-257, 1996.
[0020242]10830.Szebeny, G.; Rotwein, P.: The mouse insulin-like growth factor II/cation-independent mannose 6-phosphate (IGF-II/MPR) receptor gene: molecular cloning and genomic organization. Genomics 19: 120-129, 1994.
[0020243]10831.Tong, P. Y.; Tollefsen, S. E.; Kornfeld, S.: The cation-independent mannose 6-phosphate receptor binds insulin-like growth factor II. J. Biol. Chem. 263: 2585-2588, 1988.
[0020244]10832.Waheed, A.; Braulke, T.; Junghans, U.; von Figura, K.: Mannose 6-phosphate/insulin like growth factor II receptor: the two types of ligands bind simultaneously to one receptor at different sites. Biochem. Biophys. Res. Commun. 152: 1248-1254, 1988.
[0020245]10833.Xu, Y.; Goodyer, C. G.; Deal, C.; Polychronakos, C.: Functional polymorphism in the parental imprinting of the human IGF2R gene. Biochem. Biophys. Res. Commun. 197: 747-754, 1993.
[0020246]10834.Young, L. E.; Fernandes, K.; McEvoy, T. G.; Butterwith, S. C.; Gutierrez, C. G.; Carolan, C.; Broadbent, P. J.; Robinson, J. J.; Wilmut, I.; Sinclair, K. D.: Epigenetic change in IGF2R is associated with fetal overgrowth after sheep embryo culture. Nature Genet. 27: 153-154, 2001.
[0020247]10835.Zhu, Y.; Doray, B.; Poussu, A.; Lehto, V.-P.; Kornfeld, S.: Binding of GGA2 to the lysosomal enzyme sorting motif of the mannose 6-phosphate receptor. Science 292: 1716-1718, 2001.
[0020248]10836.Brown, C. W.; Houston-Hawkins, D. E.; Woodruff, T. K.; Matzuk, M. M.: Insertion of Inhbb into the Inhba locus rescues the Inhba-null phenotype and reveals new activin functions. Nature Genet. 25: 453-457, 2000.
[0020249]10837.Matzuk, M. M.; Kumar, T. R.; Vassalli, A.; Bickenbach, J. R.; Roop, D. R.; Jaenisch, R.; Bradley, A.: Functional analysis of activins during mammalian development. Nature 374: 354-356, 1995.
[0020250]10838.Mellor, S. L.; Cranfield, M.; Ries, R.; Pedersen, J.; Cancilla, B.; de Kretser, D.; Groome, N. P.; Mason, A. J.; Risbridger, G. P. : Localization of activin beta(A)-, beta(B)-, and beta(C)-subunits in human prostate and evidence for formation of new activin heterodimers of beta(C)-subunit. J. Clin. Endocr. Metab. 85: 4851-4858, 2000.
[0020251]10839.You, L.; Kruse, F. E.: Differential effect of activin A and BMP-7 on myofibroblast differentiation and the role of the Smad signaling pathway. Invest. Ophthal. Vis. Sci. 43: 72-81, 2002.
[0020252]10840.Valverde, P.; Healy, E.; Jackson, I.; Rees, J. L.; Thody, A. J. : Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans. Nature Genet. 11: 328-330, 1995.
[0020253]10841.Valverde, P.; Healy, E.; Sikkink, S.; Haldane, F.; Thody, A. J.; Carothers, A.; Jackson, I. J.; Rees, J. L.: The Asp84Glu variant of the melanocortin 1 receptor (MC1R) is associated with melanoma. Hum. Molec. Genet. 5: 1663-1666, 1996.
[0020254]10842.Valverde, P.; Healy, F.; Jackson, I.; Rees, J. L.; Thody, A. J. : Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans. Nature Genet. 11: 328-330, 1995.
[0020255]10843.van der Velden, P. A.; Sandkuijl, L. A.; Bergman, W.; Pavel, S.; van Mourik, L.; Frants, R. R.; Gruis, N. A.: Melanocortin-1 receptor variant R151C modifies melanoma risk in Dutch families with melanoma. Am. J. Hum. Genet. 69: 774-779, 2001.
[0020256]10844.Xu, X.; Thornwall, M.; Lundin, L.-G.; Chhajlani, V.: Val92Met variant of the melanocyte stimulating hormone receptor gene. (Letter) Nature Genet. 14: 384 only, 1996.
[0020257]10845.Becher, R.; Gibas, Z.; Sandberg, A. A.: Chromosome 6 in malignant melanoma. Cancer Genet. Cytogenet. 9: 173-175, 1983.
[0020258]10846.Fountain, J. W.; Karayiorgou, M.; Ernstoff, M. S.; Kirkwood, J. M.; Vlock, D. R.; Titus-Ernstoff, L.; Bouchard, B.; Vijayasaradhi, S.; Houghton, A. N.; Lahti, J.; Kidd, V. J.; Housman, D. E.; Dracopoli, N. C.: Homozygous deletions within human chromosome band 9p21 in melanoma. Proc. Nat. Acad. Sci. 89: 10557-10561, 1992.
[0020259]10847.Lacy, D. A.; Wang, Z.-E.; Symula, D. J.; McArthur, C. J.; Rubin, E. M.; Frazer, K. A.; Locksley, R. M.: Faithful expression of the human 5q31 cytokine cluster in transgenic mice. J. Immun. 164: 4569-4574, 2000.
[0020260]10848.Taniyama, Y.; Kuroki, R.; Omura, F.; Seko, C.; Kikuchi, M.: Evidence for intramolecular disulfide bond shuffling in the folding of mutant human lysozyme. J. Biol. Chem. 266: 6456-6461, 1991.
[0020261]10849.Loots, G. G.; Locksley, R. M.; Blankespoor, C. M.; Wang, Z. E.; Miller, W.; Rubin, E. M.; Frazer, K. A.: Identification of a coordinate regulator of interleukins 4, 13, and 5 by cross-species sequence comparisons. Science 288: 136-140, 2000.
[0020262]10850.McKenzie, A. N. J.; Culpepper, J. A.; de Waal Malefyt, R.; Briere, F.; Punnonen, J.; Aversa, G.; Sato, A.; Dang, W.; Cocks, B. G.; Menon, S.; de Vries, J. E.; Banchereau, J.; Zurawski, G.: Interleukin 13, a T-cell-derived cytokine that regulates human monocyte and B-cell function. Proc. Nat. Acad. Sci. 90: 3735-3739, 1993.
[0020263]10851.Minty, A.; Chalon, P.; Derocq, J.-M.; Dumont, X.; Guillemot, J.-C.; Kaghad, M.; Labit, C.; Leplatois, P.; Liauzun, P.; Miloux, B.; Minty, C.; Casellas, P.; Loison, G.; Lupker, J.; Shire, D.; Ferrara, P.; Caput, D.: Interleukin-13 is a new human lymphokine regulating inflammatory and immune responses. Nature 362: 248-250, 1993.
[0020264]10852.Morgan, J. G.; Dolganov, G. M.; Robbins, S. E.; Hinton, L. M.; Lovett, M.: The selective isolation of novel cDNAs encoded by the regions surrounding the human interleukin 4 and 5 genes. Nucleic Acids Res. 20: 5173-5179, 1992.
[0020265]10853.Paul, W. E.: Personal Communication. Bethesda, Md. 3/6/1993.
[0020266]10854.Punnonen, J.; Aversa, G.; Cocks, B. G.; McKenzie, A. N. J.; Menon, S.; Zurawski, G.; de Waal Malefyt, R.; de Vries, J. E.: Interleukin 13 induces interleukin 4-independent IgG4 and IgE synthesis and CD23 expression by human B cells. Proc. Nat. Acad. Sci. 90: 3730-3734, 1993.
[0020267]10855.Smirnov, D. V.; Smirnova, M. G.; Korobko, V. G.; Frolova, E. I. : Tandem arrangement of human genes for interleukin-4 and interleukin-13: resemblance in their organization. Gene 155: 277-281, 1995.
[0020268]10856.Wills-Karp, M.; Luyimbazi, J.; Xu, X.; Schofield, B.; Neben, T. Y.; Karp, C. L.; Donaldson, D. D.: Interleukin-13: central mediator of allergic asthma. Science 282: 2258-2261, 1998.
[0020269]10857.Zhu, Z.; Homer, R. J.; Wang, Z.; Chen, Q.; Geba, G. P.; Wang, J.; Zhang, Y.; Elias, J. A.: Pulmonary expression of interleukin-13 causes inflammation, mucus hypersecretion, subepithelial fibrosis, physiologic abnormalities, and eotaxin production. J. Clin. Invest. 103: 779-788, 1999.
[0020270]10858.Zurawski, G.; de Vries, J. E.: Interleukin 13 elicits a subset of the activities of its close relative interleukin 4. Stem Cells 12: 169-174, 1994.
[0020271]10859.Li, C.; Lai, C.; Sigman, D. S.; Gaynor, R. B.: Cloning of a cellular factor, interleukin binding factor, that binds to NFAT-like motifs in the human immunodeficiency virus long terminal repeat. Proc. Nat. Acad. Sci. 88: 7739-7743, 1991.
[0020272]10860.Li, C.; Lusis, A. J.; Sparkes, R.; Nirula, A.; Gaynor, R.: Characterization and chromosomal mapping of the gene encoding the cellular DNA binding protein ILF. Genomics 13: 665-671, 1992.
[0020273]10861.Chebath, J.; Merlin, G.; Metz, R.; Benech, P.; Revel, M.: Interferon-induced 56,000 Mr protein and its mRNA in human cells: molecular cloning and partial sequence of the cDNA. Nucleic Acids Res. 11: 1213-1226, 1983.
[0020274]10862.Kusari, J.; Szabo, P.; Grzeschik, K.-H.; Sen, G. C.: Chromosomal localization of the interferon-inducible human gene encoding mRNA 561. J. Interferon Res. 7: 53-59, 1987.
[0020275]10863.Boone, C.; Chen, T.-R.; Ruddle, F. H.: Assignment of three human genes to chromosomes (LDH-A to 11, TK to 17 and IDH to 20) and evidence for translocation between human and mouse chromosomes in somatic cell hybrids. Proc. Nat. Acad. Sci. 68: 510-514, 1972.
[0020276]10864.Chen, S.-H.; Fossum, B. L. G.; Giblett, E. R.: Genetic variation of the soluble form of NADP-dependent isocitric dehydrogenase in man. Am. J. Hum. Genet. 24: 325-329, 1972.
[0020277]10865.Creagan, R. P.; Carritt, B.; Chen, S.-H.; Kucherlapati, R. S.; McMorris, F. A.; Ricciuti, F.; Tan, Y. H.; Tischfield, J. A.; Ruddle, F. H.: Chromosome assignments of genes in man using mousehuman somatic cell hybrids: cytoplasmic isocitrate dehydrogenase (IDH 1) and malate dehydrogenase (MDH 1) to chromosome 2. Am. J. Hum. Genet. 26: 604-613, 1974.
[0020278]10866.Glass, I. A.; Swindlehurst, C. A.; Aitken, D. A.; McCrea, W.; Boyd, E.: Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase. J. Med. Genet. 26: 127-130, 1989.
[0020279]10867.Henderson, N. S.: Isozymes of isocitrate dehydrogenase: subunit structure and intracellular location. J. Exp. Zool. 158: 263-273, 1965.
[0020280]10868.Henderson, N. S.: Intracellular location and genetic control of isozymes of NADPdependent isocitrate dehydrogenase and malate dehydrogenase. Ann. N.Y. Acad. Sci. 151: 429-440, 1968.
[0020281]10869.Narahara, K.; Kimura, S.; Kikkawa, K.; Takahashi, Y.; Wakita, Y.; Kasai, R.; Nagai, S.; Nishibayashi, Y.; Kimoto, H.: Probable assignment of soluble isocitrate dehydrogenase (IDH-1) to 2q33.3. Hum. Genet. 71: 37-40, 1985.
[0020282]10870.Ruddle, F. H.: Linkage analysis in man by somatic cell genetics. Nature 242: 165-169, 1973.
[0020283]10871.Shows, T. B.: . (Abstract) 4th Int. Cong. Hum. Genet., Paris 165, 1971.
[0020284]10872.Shows, T. B.: Genetics of human-mouse somatic cell hybrids: linkage of human genes for isocitrate dehydrogenase and malate dehydrogenase. Biochem. Genet. 7: 193-204, 1972.
[0020285]10873.Turner, B. M.; Fisher, R. A.; Garthwaite, E.; Whale, R. J.; Harris, H.: An account of two new ICD-S variants not detectable in red blood cells. Ann. Hum. Genet. 37: 469-476, 1974.
[0020286]10874.Van Cong, N.: Personal Communication. Paris, France 1976.
[0020287]10875.Weil, D.; Van Cong, N.; Finaz, C.; Rebourcet, R.; Cochet, C.; de Grouchy, J.; Frezal, J.: Localisation regionale des genes humains IDH-S, MDH-S, PGK, alpha-GAL, G6PD par l'hybridation cellulaire interspecifique. Hum. Genet. 36: 205-211, 1977.
[0020288]10876.Auron, P. E.; Webb, A. C.; Rosenwasser, L. J.; Mucci, S. F.; Rich, A.; Wolff, S. M.; Dinarello, C. A.: Nucleotide sequence of human monocyte interleukin 1 precursor cDNA. Proc. Nat. Acad. Sci. 81: 7907-7911, 1984.
[0020289]10877.Winter, H.; Labreze, C.; Chapalain, V.; Surleve-Bazeille, J. E.; Mercier, M.; Rogers, M. A.; Taieb, A.; Schweizer, J.: A variable monilethrix phenotype associated with a novel mutation, glu402lys, in the helix termination motif of the type II hair keratin hHb1. J. Invest. Derm. 111: 169-172, 1998.
[0020290]10878.Francke, U.; Foellmer, B. E.; Haynes, B. F.: Chromosome mapping of human cell surface molecules: monoclonal anti-human lymphocyte antibodies 4F2, A3D8, and A1G3 define antigens controlled by different regions of chromosome 11. Somat. Cell Genet. 9: 333-344, 1983.
[0020291]10879.Gottesdiener, K. M.; Karpinski, B. A.; Lindsten, T.; Strominger, J. L.; Jones, N. H.; Thompson, C. B.; Leiden, J. M.: Isolation and structural characterization of the human 4F2 heavy-chain gene, an inducible gene involved in T-lymphocyte activation. Molec. Cell. Biol. 8: 3809-3819, 1988.
[0020292]10880.Haynes, B. F.; Hemler, M. E.; Mann, D. L.; Eisenbarth, G. S.; Shelhamer, J.; Mostowski, H. S.; Thomas, C. A.; Strominger, J. L.; Fauci, A. S.: Characterization of a monoclonal antibody (4F2) that binds to human monocytes and to a subset of activated lymphocytes. J. Immun. 126: 1409-1414, 1981.
[0020293]10881.Hemler, M. E.; Strominger, J. L.: Characterization of antigen recognized by the monoclonal antibody (4F2): different molecular forms on human T and B lymphoblastoid cell lines. J. Immun. 129: 623-628, 1982.
[0020294]10882.Lindsten, T.; June, C. H.; Thompson, C. B.; Leiden, J. M.: Regulation of 4F2 heavychain gene expression during normal human T-cell activation can be mediated by multiple distinct molecular mechanisms. Molec. Cell. Biol. 8: 3820-3826, 1988.
[0020295]10883.Lumadue, J. A.; Glick, A. B.; Ruddle, F. H.: Cloning, sequence analysis, and expression of the large subunit of the human lymphocyte activation antigen 4F2. Proc. Nat. Acad. Sci. 84: 9204-9208, 1987.
[0020296]10884.Mastroberardino, L.; Spindler, B.; Pfeiffer, R.; Skelly, P. J.; Loffing, J.; Shoemaker, C. B.; Verrey, F.: Amino-acid transport by heterodimers of 4F2hc/CD98 and members of a permease family. Nature 395: 288-291, 1998.
[0020297]10885.Cohen-Haguenauer, O.; Barton, P. J. R.; Van Cong, N.; Cohen, A.; Masset, M.; Buckingham, M.; Frezal, J.: Chromosomal assignment of two myosin alkali light-chain genes encoding the ventricular/slow skeletal muscle isoform and the atrial/fetal muscle isoform (MYL3, MYL4). Hum. Genet. 81: 278-282, 1989.
[0020298]10886.Seharaseyon, J.; Bober, E.; Hsieh, C.-L.; Fodor, W. L.; Francke, U.; Arnold, H.-H.; Vanin, E. F.: Human embryonic/atrial myosin alkali light chain gene: characterization, sequence and chromosomal location. Genomics 7: 289-293, 1990.
[0020299]10887.Strohman, R. C.; Micou-Eastwood, J.; Glass, C. A.; Matsuda, R. : Human fetal muscle and cultured myotubes derived from it contain a fetal-specific myosin light chain. Science 221: 955-957, 1983.
[0020300]10888.Copeland, N. G.; Hutchison, K. W.; Jenkins, N. A.: Excision of the DBA ecotropic provirus in dilute coat-color revertants of mice occurs by homologous recombination involving the viral LTRs. Cell 33: 379-387, 1983.
[0020301]10889.El-Husseini, A. E.; Vincent, S. R.: Cloning and characterization of a novel RING finger protein that interacts with class V myosins. J. Biol. Chem. 274: 19771-19777, 1999.
[0020302]10890.Engle, L. J.; Kennett, R. H.: Cloning, analysis, and chromosomal localization of myoxin (MYH12): the human homologue to the mouse dilute gene. Genomics 19: 407-416, 1994.
[0020303]10891.Espreafico, E. M.; Coling, D. E.; Tsakraklides, V.; Krogh, K.; Wolenski, J. S.; Kalinec, G.; Kachar, B.: Localization of myosin-V in the centrosome. Proc. Nat. Acad. Sci. 95: 8636-8641, 1998.
[0020304]10892.Jenkins, N. A.; Copeland, N. G.; Taylor, B. A.; Lee, B. K.: Dilute (d) coat colour mutation of DNA/2J mice is associated with the site of integration of an ecotropic MuLV genome. Nature 293: 370-374, 1981.
[0020305]10893.Jones, J. M.; Huang, J.-D.; Mermall, V.; Hamilton, B. A.; Mooseker, M. S.; Escayg, A.; Copeland, N. G.; Jenkins, N. A.; Meisler, M. H. : The mouse neurological mutant flailer expresses a novel hybrid gene derived by exon shuffling between Gnb5 and Myo5a. Hum. Molec. Genet. 9: 821-828, 2000.
[0020306]10894.Karcher, R. L.; Roland, J. T.; Zappacosta, F.; Huddleston, M. J.; Annan, R. S.; Carr, S. A.; Gelfand, V. I.: Cell cycle regulation of myosin-V by calcium/calmodulin-dependent protein kinase II. Science 293: 1317-1320, 2001.
[0020307]10895.Ptacek, L. J.; Trimmer, J. S.; Agnew, W. S.; Roberts, J. W.; Petajan, J. H.; Leppert, M.: Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus. Am. J. Hum. Genet. 49: 851-854, 1991.
[0020308]10896.Jodice, C.; Malaspina, P.; Persichetti, F.; Novelletto, A.; Spadaro, M.; Giunti, P.; Morocutti, C.; Terrenato, L.; Harding, A. E.; Frontali, M.: Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia 1. Am. J. Hum. Genet. 54: 959-965, 1994.
[0020309]10897.Klement, I. A.; Skinner, P. J.; Kaytor, M. D.; Yi, H.; Hersch, S. M.; Clark, H. B.; Zoghbi, H. Y.; Orr, H. T.: Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice. Cell 95: 41-53, 1998.
[0020310]10898.Klockgether, T.; Burk, K.; Schulz, J. B.; Dichgans, J.; Wessel, K.; Auburger, G.: Absence of SCA1 mutation in idiopathic cerebellar ataxia. (Letter) J. Neurol. Neurosurg. Psychiat. 57: 1439-1440, 1994.
[0020311]10899.Lunkes, A.; Goldfarb, L. G.; Platonov, F. A.; Alexeev, V. P.; Duenas-Barajas, E.; Gajdusek, D. C.; Auburger, G.: Autosomal dominant spinocerebellar ataxia (SCA) in a Siberian founder population: assignment to the SCA1 locus. Exp. Neurol. 126: 310-312, 1994.
[0020312]10900.Matilla, T.; Volpini, V.; Genis, D.; Rosell, J.; Corral, J.; Davalos, A.; Molins, A.; Estivill, X.: Presymptomatic analysis of spinocerebellar ataxia type 1 (SCA1) via the expansion of the SCA1 CAG-repeat in a large pedigree displaying anticipation and parental male bias. Hum. Molec. Genet. 2: 2123-2128, 1993.
[0020313]10901.Orr, H. T.; Chung, M.; Banfi, S.; Kwiatkowski, T. J., Jr.; Servadio, A.; Beaudet, A. L.; McCall, A. E.; Duvick, L. A.; Ranum, L. P. W.; Zoghbi, H. Y.: Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genet. 4: 221-226, 1993.
[0020314]10902.Juliano, R. L.; Ling, V.: A surface glycoprotein modulating drug permeability in Chinese hamster ovary cell mutants. Biochim. Biophys. Acta 455: 152-162, 1976.
[0020315]10903.Lincke, C. R.; Smit, J. J.; van der Velde Koerts, T.; Borst, P. : Structure of the human MDR3 gene and physical mapping of the human MDR locus. J. Biol. Chem. 266: 5303-5310, 1991.
[0020316]10904.Maggiore, G.; Bernard, O.; Hadchouel, M.; Lemonnier, A.; Alagille, D.: Diagnostic value of serum gamma-glutamyl transpeptidase activity in liver diseases in children. J. Pediat. Gastroent. Nutr. 12: 21-26, 1991.
[0020317]10905.Maggiore, G.; Bernard, O.; Riely, C. A.; Hadchouel, M.; Lemonnier, A.; Alagille, D.: Normal serum gamma-glutamyl-transpeptidase activity identifies groups of infants with idiopathic cholestasis with poor prognosis. J. Pediat. 111: 251-252, 1987.
[0020318]10906.Offerhaus, J.: Personal Communication. Amsterdam, The Netherlands 1/24/1994.
[0020319]10907.Ruetz, S.; Gros, P.: Phosphatidylcholine translocase: a physiological role for the mdr2 gene. Cell 77: 1071-1081, 1994.
[0020320]10908.Smit, J. J. M.; Schinkel, A. H.; Oude Elferink, R. P. J.; Groen, A. K.; Wagenaar, E.; van Deemter, L.; Mol, C. A. A. M.; Ottenhoff, R.; van der Lugt, N. M. T.; van Roon, M. A.; van der Valk, M. A.; Offerhaus, G. J. A.; Berns, A. J. M.; Borst, P.: Homozygous disruption of the murine mdr2 P-glycoprotein gene leads to a complete absence of phospholipid from bile and to liver disease. Cell 75: 451-462, 1993.
[0020321]10909.Van der Bliek, A. M.; Baas, F.; Ten Houte de Lange, T.; Koolman, P. M.; Van der Velde-Koerts, T.; Borst, P.: The human mdr3 gene encodes a novel P-glycoprotein homologue and gives rise to alternatively spliced mRNAs in liver. EMBO J. 6: 3325-3331, 1987.
[0020322]10910.Whitington, P. F.; Freese, D. K.; Alonso, E. M.; Schwarzenberg, S. J.; Sharp, H. L.: Clinical and biochemical findings in progressive familial intrahepatic cholestasis. J. Pediat. Gastroent. Nutr. 18: 134-141, 1994.
[0020323]10911.Barbosa, M. D. F. S.; Nguyen, Q. A.; Tchernev, V. T.; Ashley, J. A.; Detter, J. C.; Blaydes, S. M.; Brandt, S. J.; Chotai, D.; Hodgman, C.; Solari, R. C. E.; Lovett, M.; Kingsmore, S. F.: Identification of the homologous beige and Chediak-Higashi syndrome genes. Nature 382: 262-265, 1996.
[0020324]10912.Fukai, K.; Oh, J.; Karim, M. A.; Moore, K. J.; Kandil, H. H.; Ito, H.; Burger, J.; Spritz, R. A.: Homozygosity mapping of the gene for Chediak-Higashi syndrome to chromosome 1q42-q44 in a segment of conserved synteny that includes the mouse beige locus (bg). Am. J. Hum. Genet. 59: 620-624, 1996.
[0020325]10913.Jackson, I. J.: Homologous pigmentation mutations in human, mouse and other model organisms. Hum. Molec. Genet. 6: 1613-1624, 1997.
[0020326]10914.Karim, M. A.; Nagle, D. L.; Kandil, H. H.; Burger, J.; Moore, K. J.; Spritz, R. A.: Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein. Hum. Molec. Genet. 6: 1087-1089, 1997.
[0020327]10915.Nagle, D. L.; Karim, M. A.; Woolf, E. A.; Holmgren, L.; Bork, P.; Misumi, D. J.; McGrail, S. H.; Dussault, B. J., Jr.; Perou, C. M.; Boissy, R. E.; Duyk, G. M.; Spritz, R. A.; Moore, K. J.: Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. Nature Genet. 14: 307-311, 1996.
[0020328]10916.Perou, C. M.; Moore, K. J.; Nagle, D. L.; Misumi, D. J.; Woolf, E. A.; McGrail, S. H.; Holmgren, L.; Brody, T. H.; Dussault, B. J., Jr.; Monroe, C. A.; Duyk, G. M.; Pryor, R. J.; Li, L.; Justice, M. J.; Kaplan, J.: Identification of the murine beige gene by YAC complementation and positional cloning. Nature Genet. 13: 303-308, 1996.
[0020329]10917.Baysal, B. E.; Potkin, S. G.; Farr, J. E.; Higgins, M. J.; Korcz, J.; Gollin, S. M.; James, M. R.; Evans, G. A.; Richard, C. W., III : Bipolar affective disroder partially cosegregates with a balanced t(9;11)(p24;q23.1) chromosomal translocation in a small pedigree. Am. J. Med. Genet. 81: 81-91, 1998.
[0020330]10918.Baysal, B. E.; Willett-Brozick, J. E.; Badner, J. A.; Corona, W.; Ferrell, R. E.; Nimgaonkar, V. L.; Detera-Wadleigh, S. D.: A mannosyltransferase gene at 11q23 is disrupted by a translocation breakpoint that co-segregates with bipolar affective disorder in a small family. Neurogenetics 4: 43-53, 2002.
[0020331]10919.Shima, D. T.; Scales, S. J.; Kreis, T. E.; Pepperkok, R.: Segregation of COPI-rich and anterograde-cargo-rich domains in endoplasmic-reticulum-to-Golgi transport complexes. Curr. Biol. 9: 821-824, 1999.
[0020332]10920.Borg, J.-P.; Marchetto, S.; Le Bivic, A.; Ollendorff, V.; Jaulin-Bastard, F.; Saito, H.; Fournier, E.; Adelaide, J.; Margolis, B.; Birnbaum, D.: ERBIN: a basolateral PDZ protein that interacts with the mammalian ERBB2/HER2 receptor. Nature Cell Biol. 2: 407-414, 2000.
[0020333]10921.Dustin, M. L.; Olszowy, M. W.; Holdorf, A. D.; Li, J.; Bromley, S.; Desai, N.; Widder, P.; Rosenberger, F.; van der Merwe, P. A.; Allen, P. M.; Shaw, A. S.: A novel adaptor protein orchestrates receptor patterning and cytoskeletal polarity in T-cell contacts. Cell 94: 667-677, 1998.
[0020334]10922.Kirsch, K. H.; Georgescu, M.-M.; Ishimaru, S.; Hanafusa, H.: CMS: an adapter molecule involved in cytoskeletal rearrangements. Proc. Nat. Acad. Sci. 96: 6211-6216, 1999.
[0020335]10923.Shih, N.-Y.; Li, J.; Karpitskii, V.; Nguyen, A.; Dustin, M. L.; Kanagawa, O.; Miner, J. H.; Shaw, A. S.: Congenital nephrotic syndrome in mice lacking CD2-associated protein. Science 286: 312-315, 1999.
[0020336]10924.Kaplan, J. M.; Kim. S. H.; North, K. N.; Rennke, H.; Correia, L. A.; Tong, H.-Q.; Mathis, B. J.; Rodriguez-Perez, J.-C.; Allen, P. G.; Beggs, A. H.; Pollak, M. R.: Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. Nature Genet. 24: 251-256, 2000.
[0020337]10925.Schalling, M.; Hudson, T. J.; Buetow, K. H.; Housman, D. E.: Direct detection of novel expanded trinucleotide repeats in the human genome. Nature Genet. 4: 135-139, 1993.
[0020338]10926.Xu, W.; Xie, Z.; Chung, D. W.; Davie, E. W.: A novel human actin-binding protein homologue that binds to platelet glycoprotein Ib-alpha. Blood 92: 1268-1276, 1998.
[0020339]10927.Zhang, W.; Han, S. W.; McKeel, D. W.; Goate, A.; Wu, J. Y.: Interaction of presenilins with the filamin family of actin-binding proteins. J. Neurosci. 18: 914-922, 1998.
[0020340]10928.Loughney, K.; Hill, T. R.; Florio, V. A.; Uher, L.; Rosman, G. J.; Wolda, S. L.; Jones, B. A.; Howard, M. L.; McAllister-Lucas, L. M.; Sonnenburg, W. K.; Francis, S. H.; Corbin, J. D.; Beavo, J. A.; Ferguson, K.: Isolation and characterization of cDNAs encoding PDE5A, a human cGMP-binding, cGMP-specific 3-prime,5-prime-cyclic nucleotide phosphodiesterase. Gene 216: 139-147, 1998.
[0020341]10929.Vissing, H.; Meyer, W. K.-H.; Aagaard, L.; Tommerup, N.; Thiesen, H.-J.: Repression of transcriptional activity by heterologous KRAB domains present in zinc finger proteins. FEBS Lett. 369: 153-157, 1995.
[0020342]10930.Ziegelbauer, J.; Shan, B.; Yager, D.; Larabell, C.; Hoffmann, B.; Tjian, R.: Transcription factor MIZ-1 is regulated via microtubule association. Molec. Cell 8: 339-349, 2001.
[0020343]10931.Bolino, A.; Lonie, L. J.; Zimmer, M.; Boerkoel, C. F.; Takashima, H.; Monaco, A. P.; Lupski, J. R.: Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy. Neurogenetics 3: 107-109, 2001.
[0020344]10932.Dolphin, C. T.; Beckett, D. J.; Janmohamed, A.; Cullingford, T. E.; Smith, R. L.; Shephard, E. A.; Phillips, I. R.: The flavin-containing monooxygenase 2 gene (FMO2) of humans, but not of other primates, encodes a truncated, nonfunctional protein. J. Biol. Chem. 273: 30599-30607, 1998.
[0020345]10933.Williams, D. E.; Kelly, J.; Dutchuk, M.: Flavin-containing monooxygenase in pulmonary microsomes of primates. In: Ingelman-Sundberg, M.; Gustafsson, J.-A.; Orrenius, S. (eds.): Drug Metabolizing Enzymes: Genetics, Regulation and Toxicology: Proceedings of the 8th International Symposium on Microsomes and Drug Oxidations. Stockholm: Karolinska Institutet 1990. P. 173.
[0020346]10934.Johnson, J. L.; Wadman, S. K.: Molybdenum cofactor deficiency and isolated sulfite oxidase deficiency.In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill 1995. Pp. 2271-2283.
[0020347]10935.Stallmeyer, B.; Drugeon, G.; Reiss, J.; Haenni, A. L.; Mendel, R. R.: Human molybdopterin synthase gene: identification of a bicistronic transcript with overlapping reading frames. Am. J. Hum. Genet. 64: 698-705, 1999.
[0020348]10936.Li-Hawkins, J.; Lund, E. G.; Turley, S. D.; Russell, D. W.: Disruption of the oxysterol 7-alpha-hydroxylase gene in mice. J. Biol. Chem. 275: 16536-16542, 2000.
[0020349]10937.Setchell, K. D. R.; Schwarz, M.; O'Connell, N. C.; Lund, E. G.; Davis, D. L.; Lathe, R.; Thompson, H. R.; Tyson, R. W.; Sokol, R. J.; Russell, D. W.: Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7-alpha-hydroxylase gene causes severe neonatal liver disease. J. Clin. Invest. 102: 1690-1703, 1998.
[0020350]10938.Gunther, T.; Chen, Z.-F.; Kim, J.; Priemel, M.; Rueger, J. M.; Amling, M.; Moseley, J. M.; Martin, T. J.; Anderson, D. J.; Karsenty, G.: Genetic ablation of parathyroid glands reveals another source of parathyroid hormone. Nature 406: 199-203, 2000.
[0020351]10939.Kanemura, Y.; Hiraga, S.; Arita, N.; Ohnishi, T.; Izumoto, S.; Mori, K.; Matsumura, H.; Yamasaki, M.; Fushiki, S.; Yoshimine, T. : Isolation and expression analysis of a novel human homologue of the Drosophila glial cells missing (gcm) gene. FEBS Lett. 442: 151-156, 1999.
[0020352]10940.Matsumoto-Taniura, N.; Pirollet, F.; Monroe, R.; Gerace, L.; Westendorf, J. M.: Identification of novel M phase phosphoproteins by expression cloning. Molec. Biol. Cell 7: 1455-1469, 1996.
[0020353]10941.Doi, T.; Minami, T.; Itoh, M.; Aburatani, H.; Kawabe, Y.; Kodama, T.; Kondo, N.; Satoh, Y.; Asayama, T.; Imanishi, T.: An alternative form of nucleolysin binds to a T-cluster DNA in the silencer element of platelet factor 4 gene. Biochem. Biophys. Res. Commun. 235: 625-630, 1997.
[0020354]10942.Kawakami, A.; Tian, Q.; Duan, X.; Streuli, M.; Schlossman, S. F.; Anderson, P.: Identification and functional characterization of a TIA-1-related nucleolysin. Proc. Nat. Acad. Sci. 89: 8681-8685, 1992.
[0020355]10943.Lemmens, I. H.; Kas, K.; Merregaert, J.; Van de Ven, W. J. M.: Identification and molecular characterization of TM7SF2 in the FAUNA gene cluster on human chromosome 11q13. Genomics 49: 437-442, 1998.
[0020356]10944.Roebroek, A. J. M.; Contreras, B.; Pauli, I. G. L.; Van de Ven, W. J. M.: cDNA cloning, genomic organization, and expression of the human RTN2 gene, a member of a gene family encoding reticulons. Genomics 51: 98-106, 1998.
[0020357]10945.Kiriakidou, M.; Driscoll, D. A.; Lopez-Guisa, J. M.; Strauss, J. F., III: Cloning and expression of primate Daxx cDNAs and mapping of the human gene to chromosome 6p21.3 in the MHC region. DNA Cell Biol. 16: 1289-1298, 1997.
[0020358]10946.Yang, X.; Khosravi-Far, R.; Chang, H. Y.; Baltimore, D.: Daxx, a novel Fas-binding protein that activates JNK and apoptosis. Cell 89: 1067-1076, 1997.
[0020359]10947.Errabolu, R.; Sanders, M. A.; Salisbury, J. L.: Cloning of a cDNA encoding human centrin, an EF-hand protein of centrosomes and mitotic spindle poles. J. Cell Sci. 107: 9-16, 1994.
[0020360]10948.Parlati, F.; McNew, J. A.; Fukuda, R.; Miller, R.; Sollner, T. H.; Rothman, J. E.: Topological restriction of SNARE-dependent membrane fusion. Nature 407: 194-198, 2000.
[0020361]10949.Scott, H. S.; Kyriakou, D. S.; Peterson, P.; Heino, M.; Tahtinen, M.; Krohn, K.; Chen, H.; Rossier, C.; Lalioti, M. D.; Antonarakis, S. E.: Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysis. Genomics 47: 64-70, 1998.
[0020362]10950.Dyer, M. R.; Walker, J. E.: Sequences of members of the human gene family for the c subunit of mitochondrial ATP synthase. Biochem. J. 293: 51-64, 1993.
[0020363]10951.Beckstead, R.; Ortiz, J. A.; Sanchez, C.; Prokopenko, S. N.; Chambon, P.; Losson, R.; Bellen, H. J.: Bonus, a Drosophila homolog of TIF1 proteins, interacts with nuclear receptors and can inhibit beta-FTZ-F1-dependent transcription. Molec. Cell 7: 753-765, 2001.
[0020364]10952.Le Douarin, B.; Zechel, C.; Garnier, J.-M.; Lutz, Y.; Tora, L.; Pierrat, B.; Heery, D.; Gronemeyer, H.; Chambon, P.; Losson, R.: The N-terminal part of TIF1, a putative mediator of the ligand-dependent activation function (AF-2) of nuclear receptors, is fused to B-raf in the oncogenic protein T18. EMBO J. 14: 2020-2033, 1995.
[0020365]10953.Thenot, S.; Henriquet, C.; Rochefort, H.; Cavailles, V.: Differential interaction of nuclear receptors with the putative human transcriptional coactivator hTIF1. J. Biol. Chem. 272: 12062-12068, 1997.
[0020366]10954.Feral, C.; Mattei, M. G.; Pawlak, A.; Guellaen, G.: Chromosomal localization of three human poly(A)-binding protein genes and four related pseudogenes. Hum. Genet. 105: 347-353, 1999.
[0020367]10955.Houng, A. K.; Maggini, L.; Clement, C. Y.; Reed, G. L.: Identification and structure of activated-platelet protein-1, a protein with RNA-binding domain motifs that is expressed by activated platelets. Europ. J. Biochem. 243: 209-218, 1997.
[0020368]10956.Yang, H.; Duckett, C. S.; Lindsten, T.: iPABP, an inducible poly(A)-binding protein detected in activated human T cells. Molec. Cell. Biol. 15: 6770-6776, 1995.
[0020369]10957.Liu, T.; DeCostanzo, A. J.; Liu, X.; Wang, H.; Hallagan, S.; Moon, R. T.; Malbon, C. C.: G protein signaling from activated rat frizzled-1 to the beta-catenin-Lef-Tcf pathway. Science 292: 1718-1722, 2001.
[0020370]10958.Sagara, N.; Toda, G.; Hirai, M.; Terada, M.; Katoh, M.: Molecular cloning, differential expression, and chromosomal localization of human frizzled-1, frizzled-2, and frizzled-7. Biochem. Biophys. Res. Commun. 252: 117-122, 1998.
[0020371]10959.Tokuhara, M.; Hirai, M.; Atomi, Y.; Terada, M.; Katoh, M.: Molecular cloning of human frizzled-6. Biochem. Biophys. Res. Commun. 243: 622-627, 1998.
[0020372]10960.Tanaka, S.; Akiyoshi, T.; Mori, M.; Wands, J. R.; Sugimachi, K. : A novel frizzled gene identified in human esophageal carcinoma mediates APC/beta-catenin signals. Proc. Nat. Acad. Sci. 95: 10164-10169, 1998.
[0020373]10961.Winklbauer, R.; Medina, A.; Swain, R. K.; Steinbeisser, H.: Frizzled-7 signalling controls tissue separation during Xenopus gastrulation. Nature 413: 856-860, 2001.
[0020374]10962.Zhao, Y.; Loyer, P.; Li, H.; Valentine, V.; Kidd, V.; Kraft, A. S.: Cloning and chromosomal location of a novel member of the myotonic dystrophy family of protein kinases. J. Biol. Chem. 272: 10013-10020, 1997.
[0020375]10963.The European Consortium on MEN1: Construction of a 1.2-Mb sequence-ready contig of chromosome 11q13 encompassing the multiple endocrine neoplasia type 1 (MEN1) gene. Genomics 44: 94-100, 1997.
[0020376]10964.Kohl, S.; Baumann, B.; Broghammer, M.; Jagle, H.; Sieving, P.; Kellner, U.; Spegal, R.; Anastasi, M.; Zrenner, E.; Sharpe, L. T.; Wissinger, B.: Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. Hum. Molec. Genet. 9: 2107-2116, 2000.
[0020377]10965.Amiel, J.; Bougeard, G.; Francannet, C.; Raclin, V.; Munnich, A.; Lyonnet, S.; Frebourg, T.: TP63 gene mutation in ADULT syndrome. Europ. J. Hum. Genet. 9: 642-645, 2001.
[0020378]10966.Sperandeo, M. P.; Bassi, M. T.; Riboni, M.; Parenti, G.; Buoninconti, A.; Manzoni, M.; Incerti, B.; Larocca, M. R.; Di Rocco, M.; Strisciuglio, P.; Dianzani, I.; Parini, R.; Candito, M.; Endo, F.; Ballabio, A.; Andria, G.; Sebastio, G.; Borsani, G.: Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance. Am. J. Hum. Genet. 66: 92-99, 2000.
[0020379]10967.Messina, A.; Oliva, M.; Rosato, C.; Huizing, M.; Ruitenbeek, W.; van den Heuvel, L. P.; Forte, M.; Rocchi, M.; De Pinto, V.: Mapping of the human voltage-dependent action channel isoforms 1 and 2 reconsidered. Bio chem. Biophys. Res. Commun. 255: 707-710, 1999.
[0020380]10968.Parnet, P.; Garka, K. E.; Bonnert, T. P.; Dower, S. K.; Sims, J. E.: IL-1Rrp is a novel receptor-like molecule similar to the type I interleukin-1 receptor and its homologues T1/ST2 and IL-1R AcP. J. Biol. Chem. 271: 3967-3970, 1996.
[0020381]10969.Torigoe, K.; Ushio, S.; Okura, T.; Kobayashi, S.; Taniai, M.; Kunikata, T.; Murakami, T.; Sanou, O.; Kojima, H.; Fujii, M.; Ohta, T.; Ikeda, M.; Ikegami, H.; Kurimoto, M.: Purification and characterization of the human interleukin-18 receptor. J. Biol. Chem. 272: 25737-25742, 1997.
[0020382]10970.Torrents, D.; Estevez, R.; Pineda, M.; Fernandez, E.; Lloberas, J.; Shi, Y.-B.; Zorzano, A.; Palacin, M.: Identification and characterization of a membrane protein ((+)L amino acid transporter-1) that associates with 4F2hc to encode the amino acid transport activity y(+)L: a candidate gene for lysinuric protein intolerance. J. Biol. Chem. 273: 32437-32445, 1998.
[0020383]10971.Akiba, H.; Atsuta, M.; Yagita, H.; Okumura, K.: Identification of rat OX40 ligand by molecular cloning. Biochem. Biophys. Res. Commun. 251: 131-136, 1998.
[0020384]10972.Baum, P. R.; Gayle, R. B., III; Ramsdell, F.; Srinivasan, S.; Sorensen, R. A.; Watson, M. L.; Seldin, M. F.; Baker, E.; Sutherland, G. R.; Clifford, K. N.; Alderson, M. R.; Goodwin, R. G.; Fanslow, W. C.: Molecular characterization of murine and human OX40/OX40 ligand systems: identification of a human OX40 ligand as the HTLV-1-regulated protein gp34. EMBO J. 13: 3992-4001, 1994.
[0020385]10973.Godfrey, W. R.; Fagnoni, F. F.; Harara, M. A.; Buck, D.; Engleman, E. G.: Identification of a human OX-40 ligand, a costimulator of CD4+ T cells with homology to tumor necrosis factor. J. Exp. Med. 180: 757-762, 1994.
[0020386]10974.Malmstrom, V.; Shipton, D.; Singh, B.; Al-Shamkhani, A.; Puklavec, M. J.; Barclay, A. N.; Powrie, F.: CD134L expression on dendritic cells in the mesenteric lymph nodes drives colitis in T cell-restored SCID mice. J. Immun. 166: 6972-6981, 2001.
[0020387]10975.Miura, S.; Ohtani, K.; Numata, N.; Niki, M.; Ohbo, K.; Ina, Y.; Gojobori, T.; Tanaka, Y.; Tozawa, H.; Nakamura, M.; Sugamura, K.: Molecular cloning and characterization of a novel glycoprotein, gp34, that is specifically induced by the human T-cell leukemia virus type I transactivator p40-tax. Molec. Cell. Biol. 11: 1313-1325, 1991.
[0020388]10976.Hilton, D. J.; Richardson, R. T.; Alexander, W. S.; Viney, E. M.; Willson, T. A.; Sprigg, N. S.; Starr, R.; Nicholson, S. E.; Metcalf, D.; Nicola, N. A.: Twenty proteins containing a Cterminal SOCS box form five structural classes. Proc. Nat. Acad. Sci. 95: 114-119, 1998.
[0020389]10977.Cretney, E.; Takeda, K.; Yagita, H.; Glaccum, M.; Peschon, J. J.; Smyth, M. J.: Increased susceptibility to tumor initiation and metastasis in TNF-related apoptosis-inducing liganddeficient mice. J. Immun. 168: 1356-1361, 2002.
[0020390]10978.Degli-Esposti, M. A.; Dougall, W. C.; Smolak, P. J.; Waugh, J. Y.; Smith, C. A.; Goodwin, R. G.: The novel receptor TRAIL-R4 induces NF-kappa-B and protects against TRAILmediated apoptosis, yet retains an incomplete death domain. Immunity 7: 813-820, 1997.
[0020391]10979.Shibui, A.; Tsunoda, T.; Seki, N.; Suzuki, Y.; Sugane, K.; Sugano, S.: Isolation and chromosomal mapping of a novel human gene showing homology to Na+/PO4 cotransporter. J. Hum. Genet. 44: 190-192, 1999.
[0020392]10980.Bardoni, B.; Giglio, S.; Schenck, A.; Rocchi, M.; Mandel, J. L. : Assignment of NUFIP1 (nuclear FMRP interacting protein 1) gene to chromosome 13q14 and assignment of a pseudogene to chromosome 6q12. Cytogenet. Cell Genet. 89: 11-13, 2000.
[0020393]10981.Bardoni, B.; Schenck, A.; Mandel, J. L.: A novel RNA-binding nuclear protein that interacts with the fragile X mental retardation (FMR1) protein. Hum. Molec. Genet. 8: 2557-2566, 1999.
[0020394]10982.Blagitko, N.; Schulz, U.; Schinzel, A. A.; Ropers, H.-H.; Kalscheuer, V. M.: Gamma-2-COP, a novel imprinted gene on chromosome 7q32, defines a new imprinting cluster in the human genome. Hum. Molec. Genet. 8: 2387-2396, 1999.
[0020395]10983.Putilina, T.; Jaworski, C.; Gentleman, S.; McDonald, B.; Kadiri, M.; Wong, P.: Analysis of a human cDNA containing a tissue-specific alternatively spliced LIM domain. Biochem. Biophys. Res. Commun. 252: 433-439, 1998.
[0020396]10984.Davenport, J. W.; Fernandes, E. R.; Harris, L. D.; Neale, G. A. M.; Goorha, R.: The mouse mitotic checkpoint gene Bub1b, a novel Bub1 family member, is expressed in a cell cycledependent manner. Genomics 55: 113-117, 1999.
[0020397]10985.Taylor, S. S.; Ha, E.; McKeon, F.: The human homologue of Bub3 is required for kinetochore localization of Bub1 and a Mad3/Bub1-related protein kinase. J. Cell Biol. 142: 1-11, 1998.
[0020398]10986.Bonne, S.; van Hengel, J; van Roy, F.: Assignment of the plakophilin-2 gene (PKP2) and a plakophilin-2 pseudogene (PKP2P1) to human chromosome bands 12p11 and 12p13, respectively, by in situ hybridization. Cytogenet. Cell Genet. 88: 286-287, 2000.
[0020399]10987.Mertens, C.; Kuhn, C.; Franke, W. W.: Plakophilins 2a and 2b: constitutive proteins of dual location in the karyoplasm and the desmosomal plaque. J. Cell Biol. 135: 1009-1025, 1996.
[0020400]10988.Schmidt, A; Langbein, L.; Pratzel, S.; Rode, M.; Rackwitz, H.-R.; Franke, W. W.: Plakophilin 3--a novel cell-type-specific desmosomal plaque protein. Differentiation 64: 291-306, 1999.
[0020401]10989.Bergstein, I.; Eisenberg, L. M.; Bhalerao, J.; Jenkins, N. A.; Copeland, N. G.; Osborne, M. P.; Bowcock, A. M.; Brown, A. M. C.: Isolation of two novel WNT genes, WNT14 and WNT15, one of which (WNT15) is closely linked to WNT3 on human chromosome 17q21. Genomics 46: 450-458, 1997.
[0020402]10990.Hartmann, C.; Tabin, C. J.: Wnt-14 plays a pivotal role in inducing synovial joint formation in the developing appendicular skeleton. Cell 104: 341-351, 2001.
[0020403]10991.Saitoh, T.; Hirai, M.; Katoh, M.: Molecular cloning and characterization of WNT3A and WNT14 clustered in human chromosome 1q42 region. Biochem. Biophys. Res. Commun. 284: 1168-1175, 2001.
[0020404]10992.Habuchi, T.; Luscombe, M.; Elder, P. A.; Knowles, M. A.: Structure and methylationbased silencing of a gene (DBCCR1) within a candidate bladder cancer tumor suppressor region at 9q32-q33. Genomics 48: 277-288, 1998.
[0020405]10993.Habuchi, T.; Yoshida, O.; Knowles, M. A.: A novel candidate tumour suppressor locus at 9q32-33 in bladder cancer: localization of the candidate region within a single 840 kb YAC. Hum. Molec. Genet. 6: 913-919, 1997.
[0020406]10994.Nishiyama, H.; Takahashi, T.; Kakehi, Y.; Habuchi, T.; Knowles, M. A.: Homozygous deletion at the 9q32-33 candidate tumor suppressor locus in primary human bladder cancer. Genes Chromosomes Cancer 26: 171-175, 1999.
[0020407]10995.Ayala-Madrigal, M. L.; Doerr, S.; Ramirez-Duenas, M. L.; Hansmann, I.: Assignment of KPNA4 and KPNB1 encoding karyopherin alpha 4 and beta 1 to human chromosome bands 11q22 and 17q21 respectively, by in situ hybridization. Cytogenet. Cell Genet. 89: 258-259, 2000.
[0020408]10996.Bayliss, R.; Littlewood, T.; Stewart, M.: Structural basis for the interaction between FxFG nucleoporin repeats and importin-beta in nuclear trafficking. Cell 102: 99-108, 2000.
[0020409]10997.Chi, N. C.; Adam, E. J. H.; Adam, S. A.: Sequence and characterization of cytoplasmic nuclear protein import factor p97. J. Cell Biol. 130: 265-274, 1995.
[0020410]10998.Gorlich, D.; Kostka, S.; Kraft, R.; Dingwall, C.; Laskey, R. A.; Hartmann, E.; Prehn, S.: Two different subunits of importin cooperate to recognize nuclear localization signals and bind them to the nuclear envelope. Curr. Biol. 5: 383-392, 1995.
[0020411]10999.Kutay, U.; Izaurralde, E.; Bischoff, F. R.; Mattaj, I. W.; Gorlich, D.: Dominantnegative mutants of importin-beta block multiple pathways of import and export through the nuclear pore complex. EMBO J. 16: 1153-1163, 1997.
[0020412]11000.Matsuda, Y.; Hamatani, K.; Itoh, M.; Takahashi, E.; Araki, R.; Abe, M.: Localization of the importin-beta gene to mouse chromosome 11D and rat chromosome 10q32.1. Genomics 36: 213-215, 1996.
[0020413]11001.Thornton, C.; Snowden, M. A.; Carling, D.: Identification of a novel AMP-activated protein kinase beta subunit isoform that is highly expressed in skeletal muscle. J. Biol. Chem. 273: 12443-12450, 1998.
[0020414]11002.Woods, A.; Cheung, P. C. F.; Smith, F. C.; Davison, M. D.; Scott, J.; Beri, R. K.; Carling, D.: Characterization of AMP-activated protein kinase beta and gamma subunits: assembly of the heterotrimeric complex in vitro. J. Biol. Chem. 271: 10282-10290, 1996.
[0020415]11003.Lee, S.-J.: Expression of growth/differentiation factor 1 in the nervous system: conservation of a bicistronic structure. Proc. Nat. Acad. Sci. 88: 4250-4254, 1991.
[0020416]11004.Yamagoe, S.; Akasaka, T.; Uchida, T.; Hachiya, T.; Okabe, T.; Yamakawa, Y.; Arai, T.; Mizuno, S.; Suzuki, K.: Expression of a neutrophil chemotactic protein LECT2 in human hepatocytes revealed by immunochemical studies using polyclonal and monoclonal antibodies to a recombinant LECT2. Biochem. Biophys. Res. Commun. 237: 116-120, 1997.
[0020417]11005.Yamagoe, S.; Kameoka, Y.; Hashimoto, K.; Mizuno, S.; Suzuki, K. : Molecular cloning, structural characterization, and chromosomal mapping of the human LECT2 gene. Genomics 48: 324-329, 1998.
[0020418]11006.Yamagoe, S.; Mizuno, S.; Suzuki, K.: Molecular cloning of human and bovine LECT2 having a neutrophil chemotactic activity and its specific expression in the liver. Biochim. Biophys. Acta 1396: 105-113, 1998.
[0020419]11007.Yamagoe, S.; Watanabe, T.; Mizuno, S.; Suzuki, K.: The mouse Lect2 gene: cloning of cDNA and genomic DNA, structural characterization and chromosomal localization. Gene 216: 171-178, 1998.
[0020420]11008.Yamagoe, S.; Yamakawa, Y.; Matsuo, Y.; Minowada, J.; Mizuno, S.; Suzuki, K.: Purification and primary amino acid sequence of a novel neutrophil chemotactic factor LECT2. Immun. Lett. 52: 9-13, 1996.
[0020421]11009.Kullak-Ublick, G.-A.; Beuers, U.; Meier, P. J.; Domdey, H.; Paumgartner, G.: Assignment of the human organic anion transporting polypeptide (OATP) gene to chromosome 12p12 by fluorescence in situ hybridization. J. Hepatol. 25: 985-987, 1996.
[0020422]11010.Kullak-Ublick, G. A.; Hagenbuch, B.; Stieger, B.; Schteingart, C. D.; Hofmann, A. F.; Wolkoff, A. W.; Meier, P. J.: Molecular and functional characterization of an organic anion transporting polypeptide cloned from human liver. :Gastroenterology 109: 1274-1282, 1995.
[0020423]11011.El-Husseini, A. E.-D.; Schnell, E.; Chetkovich, D. M.; Nicoll, R. A.; Bredt, D. S.: PSD-95 involvement in maturation of excitatory synapses. Science 290: 1364-1368, 2000.
[0020424]11012.El-Husseini, A. E.-D.; Schnell, E.; Dakoji, S.; Sweeney, N.; Zhou, Q.; Prange, O.; Gauthier-Campbell, C.; Aguilera-Moreno, A.; Nicoll, R. A.; Bredt, D. S.: Synaptic strength regulated by palmitate cycling on PSD-95. Cell 108: 849-863, 2002.
[0020425]11013.Kim, E.; Cho, K.-O.; Rothschild, A.; Sheng, M.: Heteromultimerization and NMDA receptor-clustering activity of Chapsyn-110, a member of the PSD-95 family of proteins. Neuron 17: 103-113, 1996.
[0020426]11014.Kim, E.; Niethammer, M.; Rothschild, A.; Jan, Y. N.; Sheng, M. : Clustering of Shaker-type K+ channels by interaction with a family of membrane-associated guanylate kinases. Nature 378: 85-88, 1995.
[0020427]11015.Kistner, U.; Wenzel, B. M.; Veh, R. W.; Cases-Langhoff, C.; Garner, A. M.; Appeltauer, U.; Voss, B.; Gundelfinger, E. D.; Garner, C. C. : SAP90, a rat presynaptic protein related to the product of the Drosophila tumor suppressor gene, dLg-A. J. Biol. Chem. 268: 4580-4583, 1993.
[0020428]11016.Migaud, M.; Charlesworth, P.; Dempster, M.; Webster, L. C.; Watabe, A. M.; Makhinson, M.; He, Y.; Ramsay, M. F.; Morris, R. G. M.; Morrison, J. H.; O'Dell, T. J.; Grant, S. G. N.: Enhanced long-term potentiation and impaired learning in mice with mutant postsynaptic density-95 protein. Nature 396: 433-439, 1998.
[0020429]11017.Sattler, R.; Xiong, Z.; Lu, W.-Y.; Hafner, M.; MacDonald, J. F.; Tymianski, M.: Specific coupling of NMDA receptor activation to nitric oxide neurotoxicity by PSD-95 protein. Science 284: 1845-1848, 1999.
[0020430]11018.Stathakis, D. G.; Hoover, K. B.; You, Z.; Bryant, P. J.: Human postsynaptic density-95 (PSD95): location of the gene (DLG4) and possible function in nonneural as well as in neural tissues. Genomics 44: 71-82, 1997.
[0020431]11019.Strippoli, P.; Petrini, M.; Lenzi, L.; Carinci, P.; Zannotti, M. : The murine DSCR1-like (Down syndrome candidate region 1) gene family: conserved synteny with the human orthologous genes. Gene 257: 223-232, 2000.
[0020432]11020.Yang, J.; Rothermel, B.; Vega, R. B.; Frey, N.; McKinsey, T. A.; Olson, E. N.; Bassel-Duby, R.; Williams, R. S.: Independent signals control expression of the calcineurin inhibitory proteins MCIP1 and MCIP2 in striated muscles. Circ. Res. 87: 61e-68e, 2000.
[0020433]11021.Zheng, B.; Larkin, D. W.; Albrecht, U.; Sun, Z. S.; Sage, M.; Eichele, G.; Lee, C. C.; Bradley, A.: The mPer2 gene encodes a functional component of the mammalian circadian clock. Nature 400: 169-173, 1999.
[0020434]11022.Lund, E. G.; Guileyardo, J. M.; Russell, D. W.: cDNA cloning of cholesterol 24-hydroxylase, a mediator of cholesterol homeostasis in the brain. Proc. Nat. Acad. Sci. 96: 7238-7243, 1999.
[0020435]11023.Endo, S.; Suzuki, M.; Sumi, M.; Nairn, A. C.; Morita, R.; Yamakawa, K.; Greengard, P.; Ito, M.: Molecular identification of human G-substrate, a possible downstream component of the cGMP-dependent protein kinase cascade in cerebellar Purkinje cells. Proc. Nat. Acad. Sci. 96: 2467-2472, 1999.
[0020436]11024.Nakamura, H.; Sudo, T.; Tsuiki, H.; Miyake, H.; Morisaki, T.; Sasaki, J.; Masuko, N.; Kochi, M.; Ushio, Y.; Saya, H.: Identification of a novel human homolog of the Drosophila dlg, P-dlg, specifically expressed in the gland tissues and interacting with p55. FEBS Lett. 433: 63-67, 1998.
[0020437]11025.Funderburgh, J. L.; Perchellet, A. L.; Swiergiel, J.; Conrad, G. W.; Justice, M. J.: Keratocan (Kera), a corneal keratan sulfate proteoglycan, maps to the distal end of mouse chromosome 10. Genomics 52: 110-111, 1998.
[0020438]11026.Liu, C.-Y.; Shiraishi, A.; Kao, C. W.-C.; Converse, R. L.; Funderburgh, J. L.; Corpuz, L. M.; Conrad, G. W.; Kao, W. W.-Y.: The cloning of mouse keratocan cDNA and genomic DNA and the characterization of its expression during eye development. J. Biol. Chem. 273: 22584-22588, 1998.
[0020439]11027.Tasheva, E. S.; Funderburgh, J. L.; Funderburgh, M. L.; Corpuz, L. M.; Conrad, G. W.: Structure and sequence of the gene encoding human keratocan. DNA Seq. 10: 67-74, 1999.
[0020440]11028.Tasheva, E. S.; Pettenati, M.; Von Kap-Her, C.; Conrad, G. W.: Assignment of keratocan gene (KERA) to human chromosome band 12q22 by in situ hybridization. Cytogenet. Cell Genet. 88: 244-245, 2000.
[0020441]11029.Du, Y.; Weed, S. A.; Xiong, W.-C.; Marshall, T. D.; Parsons, J. T.: Identification of a novel cortactin SH3 domain-binding protein and its localization to growth cones of cultured neurons. Molec. Cell. Biol. 18: 5838-5851, 1998.
[0020442]11030.Bruick, R. K.: Expression of the gene encoding the proapoptotic Nip3 protein is induced by hypoxia. Proc. Nat. Acad. Sci. 97: 9082-9087, 2000.
[0020443]11031.Soyombo, A. A.; Hofmann, S. L.: Molecular cloning and expression of palmitoylprotein thioesterase 2 (PPT2), a homolog of lysosomal palmitoyl-protein thioesterase with a distinct substrate specificity. J. Biol. Chem. 272: 27456-27463, 1997.
[0020444]11032.Sarma, V.; Wolf, F. W.; Marks, R. M.; Shows, T. B.; Dixit, V. M. : Cloning of a novel tumor necrosis factor-alpha-inducible primary response gene that is differentially expressed in development and capillary tube-like formation in vitro. J. Immun. 148: 3302-3312, 1992.
[0020445]11033.Richard, M.; Drouin, R.; Beaulieu, A. D.: ABC50, a novel human ATP-binding cassette protein found in tumor necrosis factor-alpha-stimulated synoviocytes. Genomics 53: 137-145, 1998.
[0020446]11034.Richter-Cook, N. J.; Dever, T. E.; Hensold, J. O.; Merrick, W. C.: Purification and characterization of a new eukaryotic protein translation factor: eukaryotic initiation factor 4H. J. Biol. Chem. 273: 7579-7587, 1998.
[0020447]11035.Hoogenraad, C. C.; Eussen, B. H. J.; Langeveld, A.; van Haperen, R.; Winterberg, S.; Wouters, C. H.; Grosveld, F.; De Zeeuw, C. I.; Galjart, N.: The murine CYLN2 gene: genomic organization, chromosome localization, and comparison to the human gene that is located within the 7q11.23 Williams syndrome critical region. Genomics 53: 348-358, 1998.
[0020448]11036.Araujo, H.; Danziger, N.; Cordier, J.; Glowinski, J.; Chneiweiss, H.: Characterization of PEA-15, a major substrate for protein kinase C in astrocytes. J. Biol. Chem. 268: 5911-5920, 1993.
[0020449]11037.Bera, T. K.; Guzman, R. C.; Miyamoto, S.; Panda, D. K.; Sasaki, M.; Hanyu, K.; Enami, J.; Nandi, S.: Identification of a mammary transforming gene (MAT1) associated with mouse mammary carcinogenesis. Proc. Nat. Acad. Sci. 91: 9789-9793, 1994.
[0020450]11038.Condorelli, G.; Vigliotta, G.; Iavarone, C.; Caruso, M.; Tocchetti, C. G.; Andreozzi, F.; Cafieri, A.; Tecce, M. F.; Formisano, P.; Beguinot, L.; Beguinot, F.: PED/PEA-15 gene controls glucose transport and is overexpressed in type 2 diabetes mellitus. EMBO J. 17: 3858-3866, 1998.
[0020451]11039.Danziger, N.; Yokoyama, M.; Jay, T.; Cordier, J.; Glowinski, J.; Chneiweiss, H.: Cellular expression, developmental regulation, and phylogenic conservation of PEA-15, the astrocytic major phosphoprotein and protein kinase C substrate. J. Neurochem. 64: 1016-1025, 1995.
[0020452]11040.Estelles, A.; Yokoyama, M.; Nothias, F.; Vincent, J.-D.; Glowinski, J.; Vernier, P.; Chneiweiss, H.: The major astrocytic phosphoprotein PEA-15 is encoded by two mRNAs conserved on their full length in mouse and human. J. Biol. Chem. 271: 14800-14806, 1996.
[0020453]11041.Hwang, S.; Kuo, W.-L.; Cochran, J. F.; Guzman, R. C.; Tsukamoto, T.; Bandyopadhyay, G.; Myambo, K.; Collins, C. C.: Assignment of HMAT1, the human homolog of the murine mammary transforming gene (MAT1) associated with tumorigenesis, to 1q21.1, a region frequently gained in human breast cancers. Genomics 42: 540-542, 1997.
[0020454]11042.Wolford, J. K.; Bogardus, C.; Ossowski, V.; Prochazka, M.: Molecular characterization of the human PEA15 gene on 1q21-q22 and association with type 2 diabetes mellitus in Pima Indians. Gene 241: 143-148, 2000.
[0020455]11043.Martin, F.; Malergue, F.; Pitari, G.; Philippe, J. M.; Philips, S.; Chabret, C.; Granjeaud, S.; Mattei, M. G.; Mungall, A. J.; Naquet, P.; Galland, F.: Vanin genes are clustered (human 6q22-24 and mouse 10A2B1) and encode isoforms of pantetheinase ectoenzymes. Immunogenetics 53: 296-306, 2001.
[0020456]11044.Hendrich, B.; Bird, A.: Identification and characterization of a family of mammalian methyl-CpG binding proteins. Molec. Cell. Biol. 18: 6538-6547, 1998.
[0020457]11045.Rasooly, R. S.: Personal Communication. Baltimore, Md. 2/23/1999.
[0020458]11046.Zhang, Y.; Ng, H.-H.; Erdjument-Bromage, H; Tempst, P.; Bird, A.; Reinberg, D.: Analysis of the NuRD subunits reveals a histone deacetylase core complex and a connection with DNA methylation. Genes Dev. 13: 1924-1935, 1999.
[0020459]11047.Bellacosa, A.; Cicchillitti, L.; Schepis, F.; Riccio, A.; Yeung, A. T.; Matsumoto, Y.; Golemis, E. A.; Genuardi, M.; Neri, G.: MED1, a novel human methyl-CpG-binding endonuclease, interacts with DNA mismatch repair protein MLH1. Proc. Nat. Acad. Sci. 96: 3969-3974, 1999.
[0020460]11048.Boland, C. R.; Thibodeau, S. N.; Hamilton, S. R.; Sidransky, D.; Eshleman, J. R.; Burt, R. W.; Meltzer, S. J.; Rodriguez-Bigas, M. A.; Fodde, R.; Ranzani, G. N.; Srivastava, S.: A National Cancer Institute workshop on microsatellite instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res. 58: 5248-5257, 1998.
[0020461]11049.Hendrich, B.; Hardeland, U.; Ng, H.-H.; Jiricny, J.; Bird, A.: The thymine glycosylase MBD4 can bind to the product of deamination at methylated CpG sites. Nature 401: 301-304, 1999.
[0020462]11050.Millar, C. B.; Guy, J.; Sansom, O. J.; Selfridge, J.; MacDougall, E.; Hendrich, B.; Keightley, P. D.; Bishop, S. M.; Clarke, A. R.; Bird, A.: Enhanced CpG mutability and tumorigenesis in MBD4-deficient mice. Science 297: 403-405, 2002.
[0020463]11051.Riccio, A.; Aaltonen, L. A.; Godwin, A. K.; Loukola, A.; Percesepe, A.; Salovaara, R.; Masciullo, V.; Genuardi M.; Paravatou-Petsotas, M.; Bassi, D. E.; Ruggeri, B. A.; Klein-Szanto, A. J. P.; Testa, J. R.; Neri, G.; Bellacosa, A.: The DNA repair gene MBD4 (MED1) is mutated in human carcinomas with microsatellite instability. (Letter) Nature Genet. 23: 266-268, 1999.
[0020464]11052.Duncan, L. M.; Deeds, J.; Hunter, J.; Shao, J.; Holmgren, L. M.; Woolf, E. A.; Tepper, R. I.; Shyjan, A. W.: Down-regulation of the novel gene melastatin correlates with potential for melanoma metastasis. Cancer Res. 58: 1515-1520, 1998.
[0020465]11053.Fang, D.; Setaluri, V.: Expression and up-regulation of alternatively spliced transcripts of melastatin, a melanoma metastasis-related gene, in human melanoma cells. Biochem. Biophys. Res. Commun. 279: 53-61, 2000.
[0020466]11054.Hunter, J. J.; Shao, J.; Smutko, J. S.; Dussault, B. J.; Nagle, D. L.; Woolf, E. A.; Holmgren, L. M.; Moore, K. J.; Shyjan, A. W. : Chromosomal localization and genomic characterization of the mouse melastatin gene (Mlsn1). Genomics 54: 116-123, 1998.
[0020467]11055.Xu, X. Z.; Moebius, F.; Gill, D. L.; Montell, C.: Regulation of melastatin, a TRPrelated protein, through interaction with a cytoplasmic isoform. Proc. Nat. Acad. Sci. 98: 10692-10697, 2001.
[0020468]11056.Anaya, P.; Evans, S. C.; Dai, C.; Lozano, G.; May, G. S.: Isolation of the Aspergillus nidulans sudD gene and its human homologue. Gene 211: 323-329, 1998.
[0020469]11057.Kalitsis, P.; Earle, E.; Fowler, K. J.; Choo, K. H. A.: Bub3 gene disruption in mice reveals essential mitotic spindle checkpoint function during early embryogenesis. Genes Dev. 14: 2277-2282, 2000.
[0020470]11058.Ardley, H. C.; Moynihan, T. P.; Thompson, J.; Leek, J. P.; Markham, A. F.; Robinson, P. A.: Rapid isolation of genomic clones for individual members of human multigene families: identification and localisation of UBE2L4, a novel member of a ubiquitin conjugating enzyme dispersed gene family. Cytogenet. Cell Genet. 79: 188-192, 1997.
[0020471]11059.Moynihan, T. P.; Cole, C. G.; Dunham, I.; O'Neil, L.; Markham, A. F.; Robinson, P. A.: Fine-mapping, genomic organization, and transcript analysis of the human ubiquitin-conjugating enzyme gene UBE2L3. Genomics 51: 124-127, 1998.
[0020472]11060.Cohen, L.; Henzel, W. J.; Baeuerle, P. A.: IKAP is a scaffold protein of the I-kappa-B kinase complex. Nature 395: 292-296, 1998.
[0020473]11061.Dong, J.; Edelmann, L.; Bajwa, A. M.; Kornreich, R.; Desnick, R. J.: Familial dysautonomia: detection of the IKBKAP IVS20+6T-C and R696P mutations and frequencies among Ashkenazi Jews. Am. J. Med. Genet. 110: 253-257, 2002.
[0020474]11062.Hu, M. C.-T.; Qiu, W. R.; Wang, Y.-P.; Hill, D.; Ring, B. D.; Scully, S.; Bolon, B.; DeRose, M.; Luethy, R.; Simonet, W. S.; Arakawa, T.; Danilenko, D. M.: FGF-18, a novel member of the fibroblast growth factor family, stimulates hepatic and intestinal proliferation. Molec. Cell. Biol. 18: 6063-6074, 1998.
[0020475]11063.Baens, M.; Chaffanet, M.; Cassiman, J.-J.; van den Berghe, H.; Marynen, P.: Construction and evaluation of a hncDNA library of human 12 transcribed sequences derived from a somatic cell hybrid. Genomics 16: 214-218, 1993.
[0020476]11064.Fearnley, I. M.; Finel, M.; Skehel, J. M.; Walker, J. E.: NADH:ubiquinone oxidoreductase from bovine heart mitochondria. Biochem. J. 278: 821-829, 1991.
[0020477]11065.Runswick, M. J.; Fearnley, I. M.; Skehel, J. M.; Walker, J. E. : Presence of an acyl carrier protein in NADH:ubiquinone oxidoreductase from bovine heart mitochondria. FEBS Lett. 286: 121-124, 1991.
[0020478]11066.Bottorff, D.; Ebinu, J.; Stone, J. C.: RasGRP, a Ras activator: mouse and human cDNA sequences and chromosomal positions. Mammalian Genome 10: 358-361, 1999.
[0020479]11067.Ebinu, J. O.; Bottorff, D. A.; Chan, E. Y. W.; Stang, S. L.; Dunn, R. J.; Stone, J. C.: RasGRP, a Ras guanyl nucleotide-releasing protein with calcium- and diacylglycerol-binding motifs. Science 280: 1082-1086, 1998.
[0020480]11068.Kawasaki, H.; Springett, G. M.; Toki, S.; Canales, J. J.; Harlan, P.; Blumenstiel, J. P.; Chen, E. J.; Bany, I. A.; Mochizuki, N.; Ashbacher, A.; Matsuda, M.; Housman, D. E.; Graybiel, A. M.: A Rap guanine nucleotide exchange factor enriched highly in the basal ganglia. Proc. Nat. Acad. Sci. 95: 13278-13283, 1998.
[0020481]11069.Bulman, D. E.; Scoggan, K. A.; van Oene, M. D.; Nicolle, M. W.; Hahn, A. F.; Tollar, L. L.; Ebers, G. C.: A novel sodium channel mutation in a family with hypokalemic periodic paralysis. Neurology 53: 1932-1936, 1999.
[0020482]11070.La Starza, R.; Wlodarska, I.; Aventin, A.; Falzetti, D.; Crescenzi, B.; Martelli, M. F.; Van den Berghe, H.; Mecucci, C.: Molecular delineation of 13q deletion boundaries in 20 patients with myeloid malignancies. Blood 91: 231-237, 1998.
[0020483]11071.El-Husseini, A. E.; Kwasnicka, D.; Yamada, T.; Hirohashi, S.; Vincent, S. R.: BERP, a novel ring finger protein, binds to alpha-actinin-4. Biochem. Biophys. Res. Commun. 267: 906-911, 2000.
[0020484]11072.Favre, B.; Fontao, L.; Koster, J.; Shafaatian, R.; Jaunin, F.; Saurat, J.-H.; Sonnenberg, A.; Borradori, L.: The hemidesmosomal protein bullous pemphigoid antigen 1 and the integrin beta-4 subunit bind to ERBIN: molecular cloning of multiple alternative splice variants of ERBIN and analysis of their tissue expression. J. Biol. Chem. 276: 32427-32436, 2001.
[0020485]11073.Agnello, V.; Abel, G.; Elfahal, M.; Knight, G. B.; Zhang, Q.-X. : Hepatitis C virus and other flaviviridae viruses enter cells via low density lipoprotein receptor. Proc. Nat. Acad. Sci. 96: 12766-12771, 1999.
[0020486]11074.Allen, J. M.; Thompson, G. R.; Myant, N. B.; Steiner, R.; Oakley, C. M.: Cardiovascular complications of homozygous familial hypercholesterolaemia. Brit. Heart J. 44: 361-368, 1980.
[0020487]11075.Benlian, P.; Amselem, S.; Loux, N.; Pastier, D.; Giraud, G.; de Gennes, J. L.; Turpin, G.; Monnier, L.; Rieu, D.; Douste-Blazy, P.; Dastugue, B.; Goossens, M.; Junien, C.: A LDL receptor gene homozygous mutation: PCR amplification, direct genomic sequencing, associated haplotype, rapid screening for frequency. Ann. Genet. 33: 65-69, 1990.
[0020488]11076.Bertolini, S.; Lelli, N.; Coviello, D. A.; Ghisellini, M.; Masturzo, P.; Tiozzo, R.; Elicio, N.; Gaddi, A.; Calandra, S.: A large deletion in the LDL receptor gene--the cause of familial hypercholesterolemia in three Italian families: a study that dates back to the 17th century (FH-Pavia). Am. J. Hum. Genet. 51: 123-134, 1992.
[0020489]11077.Betard, C.; Kessling, A. M.; Roy, M.; Chamberland, A.; Lussier-Cacan, S.; Davignon, J.: Molecular genetic evidence for a founder effect in familial hypercholesterolemia among French Canadians. Hum. Genet. 88: 529-536, 1992.
[0020490]11078.Boehnke, M.; Arnheim, N.; Li, H.; Collins, F. S.: Fine-structure genetic mapping of human chromosomes using the polymerase chain reaction on single sperm: experimental design considerations. Am. J. Hum. Genet. 45: 21-32, 1989.
[0020491]11079.Brown, M. S.; Goldstein, J. L.: Receptor-mediated endocytosis: insights from the lipoprotein receptor system. Proc. Nat. Acad. Sci. 76: 3330-3337, 1979.
[0020492]11080.Defesche, J. C.; van Diermen, D. E.; Lansberg, P. J.; Lamping, R. J.; Reymer, P. W. A.; Hayden, M. R.; Kastelein, J. J. P.: South African founder mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia in the Dutch population. Hum. Genet. 92: 567-570, 1993.
[0020493]11081.Defesche, J. C.; van de Ree, M. A.; Kastelein, J. J. P.; van Diermen, D. E.; Janssens, N. W. E.; van Doormaal, J. J.; Hayden, M. R.: Detection of the pro664-to-leu mutation in the low-density lipoprotein receptor and its relation to lipoprotein(a) levels in patients with familial hypercholesterolemia of Dutch ancestry from The Netherlands and Canada. Clin. Genet. 42: 273-280, 1992.
[0020494]11082.Chen, H. I.; Einbond, A.; Kwak, S.-J.; Linn, H.; Koepf, E.; Peterson, S.; Kelly, J. W.; Sudol, M.: Characterization of the WW domain of human Yes-associated protein and its polyproline containing ligands. J. Biol. Chem. 272: 17070-17077, 1997.
[0020495]11083.Chen, H. I.; Sudol, M.: The WW domain of Yes-associated protein binds a proline-rich ligand that differs from the consensus established for Src homology 3-binding modules. Proc. Nat. Acad. Sci. 92: 7819-7823, 1995.
[0020496]11084.Millward, T.; Cron, P.; Hemmings, B. A.: Molecular cloning and characterization of a conserved nuclear serine(threonine) protein kinase. Proc. Nat. Acad. Sci. 92: 5022-5026, 1995.
[0020497]11085.Hoggard, N.; Brintell, B.; Howell, A.; Weissenbach, J.; Varley, J.: Allelic imbalance on chromosome 1 in human breast cancer. II. Microsatellite repeat analysis. Genes Chromosomes Cancer 12: 24-31, 1995.
[0020498]11086.White, G. R. M.; Varley, J. M.; Heighway, J.: Isolation and characterization of a human homologue of the latrophilin gene from a region of 1p31.1 implicated in breast cancer. Oncogene 17: 3513-3519, 1998.
[0020499]11087.Heyer, B. S.; Warsowe, J.; Solter, D.; Knowles, B. B.; Ackerman, S. L.: New member of the Snf1/AMPK kinase family, Melk, is expressed in the mouse egg and preimplantation embryo. Molec. Reprod. Dev. 47: 148-156, 1997.
[0020500]11088.Merrill, R. A.; Plum, L. A.; Kaiser, M. E.; Clagett-Dame, M.: A mammalian homolog of unc-53 is regulated by all-trans retinoic acid in neuroblastoma cells and embryos. Proc. Nat. Acad. Sci. 99: 3422-3427, 2002.
[0020501]11089.van Hille, B.; Richener, H.; Evans, D. B.; Green, J. R.; Bilbe, G.: Identification of two subunit A isoforms of the vacuolar H(+)-ATPase in human osteoclastoma. J. Biol. Chem. 268: 7075-7080, 1993.
[0020502]11090.van Hille, B.; Richener, H.; Green, J. R.; Bilbe, G.: The ubiquitous VA68 isoform of subunit A of the vacuolar H(+)-ATPase is highly expressed in human osteoclasts. Biochem. Biophys. Res. Commun. 214: 1108-1113, 1995.
[0020503]11091.Denning, G.; Jamieson, L.; Maquat, L. E.; Thompson, E. A.; Fields, A. P.: Cloning of a novel phosphatidylinositol kinase-related kinase: characterization of the human SMG-1 RNA surveillance protein. J. Biol. Chem. 276: 22709-22714, 2001.
[0020504]11092.Diaz-Meco, M. T.; Municio, M. M.; Sanchez, P.; Lozano, J.; Moscat, J.: Lambdainteracting protein, a novel protein that specifically interacts with the zinc finger domain of the atypical protein kinase C isotype lambda/iota and stimulates its kinase activity in vitro and in vivo. Molec. Cell. Biol. 16: 105-114, 1996.
[0020505]11093.Kondo, M.; Ji, L.; Kamibayashi, C.; Tomizawa, Y.; Randle, D.; Sekido, Y.; Yokota, J.; Kashuba, V.; Zabarovsky, E.; Kuzmin, I.; Lerman, M.; Roth, J.; Minna, J. D.: Overexpression of candidate tumor suppressor gene FUS1 isolated from the 3p21.3 homozygous deletion region leads to G1 arrest and growth inhibition of lung cancer cells. Oncogene 20: 6258-6262, 2001.
[0020506]11094.Frank, D.; Mendelsohn, C. L.; Ciccone, E.; Svensson, K.; Ohlsson, R.; Tycko, B.: A novel pleckstrin homology-related gene family defined by Ipl/Tssc3, TDAG51, and Tih1: tissue-specific expression, chromosomal location, and parental imprinting. Mammalian Genome 10: 1150-1159, 1999.
[0020507]11095.Sultana, R.; Yu, C.-E.; Yu, J.; Munson, J.; Chen, D.; Hua, W.; Estes, A.; Cortes, F.; de la Barra, F.; Yu, D.; Haider, S. T.; Trask, B. J.; Green, E. D.; Raskind, W. H.; Disteche, C. M.; Wijsman, E.; Dawson, G.; Storm, D. R.; Schellenberg, G. D.; Villacres, E. C.: Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins. Genomics 80: 129-134, 2002.
[0020508]11096.Deshpande, K. L.; Seubert, P. H.; Tillman, D. M.; Farkas, W. R.; Katze, J. R.: Cloning and characterization of cDNA encoding the rabbit tRNA-guanine transglycosylase 60-kilodalton subunit. Arch. Biochem. Biophys. 326: 1-7, 1996.
[0020509]11097.Wilson, S. M.; Bhattacharyya, B.; Rachel, R. A.; Coppola, V.; Tessarollo, L.; Householder, D. B.; Fletcher, C. F.; Miller, R. J.; Copeland, N. G.; Jenkins, N. A.: Synaptic defects in ataxia mice result from a mutation in Usp14, encoding a ubiquitin-specific protease. Nature Genet. 7Oct, 2002. Note: Advance Electronic Publication.
[0020510]11098.Triggs-Raine, B. L.; Akerman, B. R.; Clarke, J. T. R.; Gravel, R. A.: Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease. Am. J. Hum. Genet. 49: 1041-1054, 1991.
[0020511]11099.Triggs-Raine, B. L.; Gravel, R. A.: Diagnostic heteroduplexes: simple detection of carriers of a 4-bp insertion mutation in Tay-Sachs disease. Am. J. Hum. Genet. 46: 183-184, 1990.
[0020512]11100.Triggs-Raine, B. L.; Mules, E. H.; Kaback, M. M.; Lim-Steele, J. S. T.; Dowling, C. E.; Akerman, B. R.; Natowicz, M. R.; Grebner, E. E.; Navon, R.; Welch, J. P.; Greenberg, C. R.; Thomas, G. H.; Gravel, R. A.: A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening. Am. J. Hum. Genet. 51: 793-801, 1992.
[0020513]11101.Trop, I.; Kaplan, F.; Brown, C.; Mahuran, D.; Hechtman, P.: A gly250-to-asp substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family. Hum. Mutat. 1: 35-39, 1992.
[0020514]11102.Trop, I.; Kaplan, F.; Hechtman, P.: Juvenile-onset Tay-Sachs disease in a Lebanese proband is caused by gly(250)-to-asp substitution in the alpha subunit of hexosaminidase A. (Abstract) Am. J. Hum. Genet. 47 (suppl.): A168, 1990.
[0020515]11103.Whitley, C. B.; Anderson, R. A.; McIvor, R. S.: Heterozygosity for the 'DN allele' (G533-to-A) of the beta-hexosaminidase alpha subunit gene identified by direct DNA sequencing in a family with the B1 variant of G(M2)-gangliosidosis. Neuropediatrics 23: 96-101, 1992.
[0020516]11104.Zlotogora, J.: Is the presence of two different Tay-Sachs disease mutations in a Cajun population an unexpected observation? (Letter) Am. J. Hum. Genet. 52: 1014-1015, 1993.
[0020517]11105.Zokaeem, G.; Bayleran, J.; Kaplan, P.; Hechtman, P.; Neufeld, E. F.: A shortened betahexosaminidase alpha-chain in an Italian patient with infantile Tay-Sachs disease. Am. J. Hum. Genet. 40: 537-547, 1987.
[0020518]11106.Cunningham, S. A.; Arrate, M. P.; Rodriguez, J. M.; Bjercke, R. J.; Vanderslice, P.; Morris, A. P.; Brock, T. A.: A novel protein with homology to the junctional adhesion molecule: characterization of leukocyte interactions. J. Biol. Chem. 275: 34750-34756, 2000.
[0020519]11107.Liang, T. W.; Chiu, H. H.; Gurney, A.; Sidle, A.; Tumas, D. B.; Schow, P.; Foster, J.; Klassen, T.; Dennis, K.; DeMarco, R. A.; Pham, T.; Frantz, G.; Fong, S.: Vascular endothelial-junctional adhesion molecule (VE-JAM)/JAM 2 interacts with T, NK, and dendritic cells through JAM 3. J. Immun. 168: 1618-1626, 2002.
[0020520]11108.Palmeri, D.; van Zante, A.; Huang, C.-C.; Hemmerich, S.; Rosen, S. D.: Vascular endothelial junction-associated molecule, a novel member of the immunoglobulin superfamily, is localized to intercellular boundaries of endothelial cells. J. Biol. Chem. 275: 19139-19145, 2000.
[0020521]11109.Arrate, M. P.; Rodriguez, J. M.; Tran, T. T.; Brock, T. A.; Cunningham, S. A.: Cloning of human junctional adhesion molecule 3 (JAM3) and its identification as the JAM2 counter-receptor. J. Biol. Chem. 276: 45826-45832, 2001.
[0020522]11110.Gregersen, N.; Winter, V. S.; Corydon, M. J.; Corydon, T. J.; Rinaldo, P.; Ribes, A.; Martinez, G.; Bennett, M. J.; Vianey-Saban, C.; Bhala, A.; Hale, D. E.; Lehnert, W.; Kmoch, S.; Roig, M.; Riudor, E.; Eiberg, H.; Andresen, B. S.; Bross, P.; Bolund, L. A.; Kolvraa, S.: Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-A, together conferring susceptibility to ethylmalonic aciduria. Hum. Molec. Genet. 7: 619-627, 1998.
[0020523]11111.Kelly, C. L.; Wood, P. A.: Cloning and characterization of the mouse short-chain acyl-CoA dehydrogenase gene. Mammalian Genome 7: 262-264, 1996.
[0020524]11112.Naito, E.; Indo, Y.; Tanaka, K.: Short chain acyl-coenzyme A dehydrogenase (SCAD) deficiency: immunochemical demonstration of molecular heterogeneity due to variant SCAD with differing stability. J. Clin. Invest. 84: 1671-1674, 1989.
[0020525]11113.Naito, E.; Indo, Y.; Tanaka, K.: Short chain acyl-CoA dehydrogenase (SCAD) deficiency: demonstration of molecular heterogeneity and identification of point mutations. (Abstract) Am. J. Hum. Genet. 45 (suppl.): A208, 1989.
[0020526]11114.Naito, E.; Indo, Y.; Tanaka, K.: Identification of two variant short chain acyl-coenzyme A dehydrogenase alleles, each containing a different point mutation in a patient with short chain acylcoenzyme A dehydrogenase deficiency. J. Clin. Invest. 85: 1575-1582, 1990.
[0020527]11115.Naito, E.; Ozasa, H.; Ikeda, Y.; Tanaka, K.: Molecular cloning and nucleotide sequence of cDNA encoding human short chain acyl-CoA dehydrogenase (SCAD) and a study of its genetic deficiency. (Abstract) Am. J. Hum. Genet. 43: A197, 1988.
[0020528]11116.Naito, E.; Ozasa, H.; Ikeda, Y.; Tanaka, K.: Molecular cloning and nucleotide sequence of complementary DNAs encoding human short chain acyl-coenzyme A dehydrogenase and the study of the molecular basis of human short chain acyl-coenzyme A dehydrogenase deficiency. J. Clin. Invest. 83: 1605-1613, 1989.
[0020529]11117.Garrett, R. M.; Bellissimo, D. B.; Rajagopalan, K. V.: Molecular cloning of human liver sulfite oxidase. Biochim. Biophys. Acta 1262: 147-149, 1995.
[0020530]11118.Johnson, J. L.; Coyne, K. E.; Garrett, R. M.; Zabot, M.-T.; Dorche, C.; Kisker, C.; Rajagopalan, K. V.: Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients.(Abstract) Hum. Mutat. 20: 74 only, 2002.
[0020531]11119.Chen, Y. Q.; Rafi, M. A.; de Gala, G.; Wenger, D. A.: Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy. Hum. Molec. Genet. 2: 1841-1845, 1993.
[0020532]11120.Chen, Y. Q.; Wenger, D. A.: Galactocerebrosidase from human urine: purification and partial characterization. Biochim. Biophys. Acta 1170: 53-61, 1993.
[0020533]11121.Fiumara, A.; Pavone, L.; Siciliano, L.; Tine, A.; Parano, E.; Innico, G.: Late-onset globoid cell leukodystrophy: report on 7 new patients. Child's Nerv. Syst. 6: 194-197, 1990.
[0020534]11122.Furuya, H.; Kukita, Y.; Nagano, S.; Sakai, Y.; Yamashita, Y.; Fukuyama, H.; Inatomi, Y.; Saito, Y.; Koike, R.; Tsuji, S.; Fukumaki, Y.; Hayashi, K.; Kobayashi, T.: Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients. Hum. Genet. 100: 450-456, 1997.
[0020535]11123.Kodama, S.; Igisu, H.; Siegel, D. A.; Suzuki, K.: Glycosylceramide synthesis in the developing spinal cord and kidney of the twitcher mouse, an enzymatically authentic model of human Krabbe disease. J. Neurochem. 39: 1314-1318, 1982.
[0020536]11124.Luzi, P.; Rafi, M. A.; Victoria, T.; Baskin, G. B.; Wenger, D. A.: Characterization of the rhesus monkey galactocerebrosidase (GALC) cDNA and gene and identification of the mutation causing globoid cell leukodystrophy (Krabbe disease) in this primate. Genomics 42: 319-324, 1997.
[0020537]11125.Luzi, P.; Rafi, M. A.; Wenger, D. A.: Structure and organization of the human galactocerebrosidase (GALC) gene. Genomics 26: 407-409, 1995.
[0020538]11126.Acharya, S.; Foletta, V. C.; Lee, J. W.; Rayborn, M. E.; Rodriguez, I. R.; Young, W. S., III; Hollyfield, J. G.: SPACRCAN, a novel human interphotoreceptor matrix hyaluronan-binding proteoglycan synthesized by photoreceptors and pinealocytes. J. Biol. Chem. 275: 6945-6955, 2000.
[0020539]11127.Kuehn, M. H.; Hageman, G. S.: Molecular characterization and genomic mapping of human IPM 200, a second member of a novel family of proteoglycans. Molec. Cell Biol. Res. Commun. 2: 103-110, 1999.
[0020540]11128.Kuehn, M. H.; Stone, E. M.; Hageman, G. S.: Organization of the human IMPG2 gene and its evaluation as a candidate gene in age-related macular degeneration and other retinal degenerative disorders. Invest. Ophthal. Vis. Sci. 42: 3123-3129, 2001.
[0020541]11129.Kang, D.; Jiang, H.; Wu, Q.; Pestka, S.; Fisher, P. B.: Cloning and characterization of human ubiquitin-processing protease-43 from terminally differentiated human melanoma cells using a rapid subtraction hybridization protocol RaSH. Gene 267: 233-242, 2001.
[0020542]11130.Li, X.-L.; Blackford, J. A.; Judge, C. S.; Liu, M.; Xiao, W.; Kalvakolanu, D. V.; Hassel, B. A.: RNase-L-dependent destabilization of interferon-induced mRNAs: a role for the 2-5A system in attenuation of the interferon response. J. Biol. Chem. 275: 8880-8888, 2000.
[0020543]11131.Liu, L.-Q.; Ilaria, R., Jr.; Kingsley, P. D.; Iwama, A.; van Etten, R.; Palis, J.; Zhang, D. E.: A novel ubiquitin-specific protease, UBP43, cloned from leukemia fusion protein AML1-ETOexpressing mice, functions in hematopoietic cell differentiation. Molec. Cell. Biol. 19: 3029-3038, 1999.
[0020544]11132.Schwer, H.; Liu, L.-Q.; Zhou, L.; Little, M.-T.; Pan, Z.; Hetherington, C. J.; Zhang, D.-E.: Cloning and characterization of a novel human ubiquitin-specific protease, a homologue of murine UBP43 (Usp18). Genomics 65: 44-52, 2000.
[0020545]11133.Wang, K.; Zhou, B.; Kuo, Y.-M.; Zemansky, J.; Gitschier, J.: A novel member of a zinc transporter family is defective in acrodermatitis enteropathica. Am. J. Hum. Genet. 71: 66-73, 2002.
[0020546]11134.Freeman, B. C.; Yamamoto, K. R.: Disassembly of transcriptional regulatory complexes by molecular chaperones. Science 296: 2232-2235, 2002.
[0020547]11135.Johnson, J. L.; Beito, T. G.; Krco, C. J.; Toft, D. O.: Characterization of a novel 23-kilodalton protein of unactive progesterone receptor complexes. Molec. Cell. Biol. 14: 1956-1963, 1994.
[0020548]11136.Smith, D. F.; Faber, L. E.; Toft, D. O.: Purification of unactivated progesterone receptor and identification of novel receptor-associated proteins. J. Biol. Chem. 265: 3996-4003, 1990.
[0020549]11137.Patterson, C. E.; Gao, J.; Rooney, A. P.; Davis, E. C.: Genomic organization of mouse and human 65 kDa FK506-binding protein genes and evolution of the FKBP multigene family. Genomics 79: 881-889, 2002.
[0020550]11138.Patterson, C. E.; Schaub, T.; Coleman, E. J.; Davis, E. C.: Developmental regulation of FKBP65: an ER localized extracellular matrix-binding protein. Molec. Biol. Cell 11: 3925-3935, 2000.
[0020551]11139.Cai, H.; Wang, Y.; McCarthy, D.; Wen, H.; Borchelt, D. R.; Price, D. L.; Wong, P. C.: BACE1 is the major beta-secretase for generation of A-beta peptides by neurons. Nature Neurosci. 4: 233-234, 2001.
[0020552]11140.Meyaard, L.; Adema, G. J.; Chang, C.; Woollatt, E.; Sutherland, G. R.; Lanier, L. L.; Phillips, J. H.: LAIR-1, a novel inhibitory receptor expressed on human mononuclear leukocytes. Immunity 7: 283-290, 1997.
[0020553]11141.Sathish, J. G.; Johnson, K. G.; Fuller, K. J.; LeRoy, F. G.; Meyaard, L.; Sims, M. J.; Matthews, R. J.: Constitutive association of SHP-1 with leukocyte-associated Ig-like receptor-1 in human T cells. J. Immun. 166: 1763-1770, 2001.
[0020554]11142.Xu, M.; Zhao, R.; Zhao, Z. J.: Identification and characterization of leukocyteassociated Ig-like receptor-1 as a major anchor protein of tyrosine phosphatase SHP-1 in hematopoietic cells. J. Biol. Chem. 275: 17440-17446, 2000.
[0020555]11143.Hofmann, R. M.; Pickart, C. M.: Noncanonical MMS2-encoded ubiquitin-conjugating enzyme functions in assembly of novel polyubiquitin chains for DNA repair. Cell 96: 645-653, 1999.
[0020556]11144.Rothofsky, M. L.; Lin, S. L.: CROC-1 encodes a protein which mediates transcriptional activation of the human FOS promoter. Gene 195: 141-149, 1997.
[0020557]11145.Sancho, E.; Vila, M. R.; Sanchez-Pulido, L.; Lozano, J. J.; Paciucci, R.; Nadal, M.; Fox, M.; Harvey, C.; Bercovich, B.; Loukili, N.; Ciechanover, A.; Lin, S. L.; Sanz, F.; Estivill, X.; Valencia, A.; Thomson, T. M.: Role of UEV-1, an inactive variant of the E2 ubiquitin-conjugating enzymes, in in vitro differentiation and cell cycle behavior of HT-29-M6 intestinal mucosecretory cells. Molec. Cell. Biol. 18: 576-589, 1998.
[0020558]11146.Birn, H.; Verroust, P. J.; Nexo, E.; Hager, H.; Jacobsen, C.; Christensen, E. I.; Moestrup, S. K.: Characterization of an epithelial approximately 460-kDa protein that facilitates endocytosis of intrinsic factor-vitamin B12 and binds receptor-associated protein. J. Biol. Chem. 272: 26497-26504, 1997.
[0020559]11147.Bork, P.; Beckmann, G.: The CUB domain: a widespread module in developmentally regulated proteins. J. Molec. Biol. 231: 539-545, 1993.
[0020560]11148.Fyfe, J. C.; Giger, U.; Hall, C. A.; Jezyk, P. F.; Klumpp, S. A.; Levine, J. S.; Patterson, D. F.: Inherited selective intestinal cobalamin malabsorption and cobalamin deficiency in dogs. Pediat. Res. 29: 24-31, 1991.
[0020561]11149.Kristiansen, M.; Aminoff, M.; Jacobsen, C.; de la Chapelle, A.; Krahe, R.; Verroust, P. J.; Moestrup, S. K.: Cubilin P1297L mutation associated with hereditary megaloblastic anemia 1 causes impaired recognition of intrinsic factor-vitamin B12 by cubilin. Blood 96: 405-409, 2000.
[0020562]11150.Kozyraki, R.; Fyfe, J.; Kristiansen, M.; Gerdes, C.; Jacobsen, C.; Cui, S.; Christensen, E. I.; Aminoff, M.; de la Chapelle, A.; Krahe, R.; Verroust, P. J.; Moestrup, S. K.: The intrinsic factorvitamin B12 receptor, cubilin, is a high-affinity apolipoprotein A-I receptor facilitating endocytosis of high-density lipoprotein. Nature Med. 5: 656-661, 1999.
[0020563]11151.De Strooper, B.; Konig, G.: A firm base for drug development. Nature 402: 471-472, 1999.
[0020564]11152.Fan, W.; Bennett, B. D.; Babu-Khan, S.; Luo, Y.; Louis, J.-C.; McCaleb, M.; Citron, M.; Vassar, R.; Richards, W. G.: Response to Saunders et al. (1999). Science 286: 1255a, 1999. Note: Electronic Publication.
[0020565]11153.Haniu, M.; Denis, P.; Young, Y.; Mendiaz, E. A.; Fuller, J.; Hui, J. O.; Bennett, B. D.; Kahn, S.; Ross, S.; Burgess, T.; Katta, V.; Rogers, G.; Vassar, R.; Citron, M.: Characterization of Alzheimer's beta-secretase protein BACE: a pepsin family member with unusual properties. J. Biol. Chem. 275: 21099-21106, 2000.
[0020566]11154.Moestrup, S. K.; Kozyraki, R.; Kristiansen, M.; Kaysen, J. H.; Rasmussen, H. H.; Brault, D.; Pontillon, F.; Goda, F. O.; Christensen, E. I.; Hammond, T. G.; Verroust, P. J.: The intrinsic factor-vitamin B12 receptor and target of teratogenic antibodies is a megalin-binding peripheral membrane protein with homology to developmental proteins. J. Biol. Chem. 273: 5235-5242, 1998.
[0020567]11155.Hong, L.; Koelsch, G.; Lin, X.; Wu, S.; Terzyan, S.; Ghosh, A. K.; Zhang, X. C.; Tang, J.: Structure of the protease domain of memapsin 2 (beta-secretase) complexed with inhibitor. Science 290: 150-153, 2000.
[0020568]11156.Hussain, I.; Powell, D.; Howlett, D. R.; Tew, D. G.; Meek, T. D.; Chapman, C.; Gloger, I. S.; Murphy, K. E.; Southan, C. D.; Ryan, D. M.; Smith, T. S.; Simmons, D. L.; Walsh, F. S.; Dingwall, C.; Christie, G.: Identification of a novel aspartic protease (asp2) as beta-secretase Molec. Cell Neurosci. 14: 419-427, 1999.
[0020569]11157.Parker, A. E.; Van de Weyer, I.; Laus, M. C.; Verhasselt, P.; Luyten, W. H. M. L.: Identification of a human homologue of the Schizosaccharomyces pombe rad17+ checkpoint gene. J. Biol. Chem. 273: 18340-18346, 1998. Note: Erratum: J. Biol. Chem. 274: 24438-24439, 1999.
[0020570]11158.von Deimling, F.; Scharf, J. M.; Liehr, T.; Rothe, M.; Kelter, A.-R.; Albers, P.; Dietrich, W. F.; Kunkel, L. M.; Wernert, N.; Wirth, B.: Human and mouse RAD17 genes: identification, localization, genomic structure and histological expression pattern in normal testis and seminoma. Hum. Genet. 105: 17-27, 1999.
[0020571]11159.Serra-Pages, C.; Medley, Q. G.; Tang, M.; Hart, A.; Streuli, M. : Liprins, a family of LAR transmembrane protein-tyrosine phosphatase-interacting proteins. J. Biol. Chem. 273: 15611-15620, 1998.
[0020572]11160.Thomas, M. K.; Yao, K.-M.; Tenser, M. S.; Wong, G. G.; Habener, J. F.: Bridge-1, a novel PDZ-domain coactivator of E2A-mediated regulation of insulin gene transcription. Molec. Cell. Biol. 19: 8492-8504, 1999.
[0020573]11161.Watanabe, T. K.; Saito, A.; Suzuki, M.; Fujiwara, T.; Takahashi, E.; Slaughter, C. A.; DeMartino, G. N.; Hendil, K. B.; Chung, C. H.; Tanahashi, N.; Tanaka, K.: cDNA cloning and characterization of a human proteasomal modulator subunit, p27 (PSMD9). Genomics 50: 241-250, 1998.
[0020574]11162.Kennedy, J.; Rossi, D. L.; Zurawski, S. M.; Vega, F., Jr.: Kastelein, R. A.; Wagner, J. L.; Hannum, C. H.; Zlotnick, A.: Mouse IL-17: a cytokine preferentially expressed by alpha beta TCR + CD4-CD8-T cells. J. Interferon Cytokine Res. 16: 611-617, 1996.
[0020575]11163.Kotake, S.; Udagawa, N.; Takahashi, N.; Matsuzaki, K.; Itoh, K.; Ishiyama, S.; Saito, S.; Inoue, K.; Kamatani, N.; Gillespie, M. T.; Martin, T. J.; Suda, T.: IL-17 in synovial fluids from patients with rheumatoid arthritis is a potent stimulator of osteoclastogenesis. J. Clin. Invest. 103: 1345-1352, 1999.
[0020576]11164.Rouvier, E.; Luciani, M.-F.; Mattei, M.-G.; Denizot, F.; Golstein, P.: CTLA-8, cloned from an activated T cell, bearing AU-rich messenger RNA instability sequences, and homologous to a Herpesvirus saimiri gene. J. Immun. 150: 5445-5456, 1993.
[0020577]11165.Yao, Z.; Painter, S. L.; Fanslow, W. C.; Ulrich, D.; Macduff, B. M.; Spriggs, M. K.; Armitage, R. J.: Human IL-17: a novel cytokine derived from T cells. J. Immun. 155: 5483-5486, 1995.
[0020578]11166.Higuti, T.; Tsurumi, C.; Kawamura, Y.; Tsujita, H.; Osaka, F.; Yoshihara, Y.; Tani, I.; Tanaka, K.; Ichihara, A.: Molecular cloning of cDNA for the import precursor of human coupling factor 6 of H(+)-ATP synthase in mitochondria. Biochem. Biophys. Res. Commun. 178: 793-799, 1991.
[0020579]11167.Javed, A. A.; Ogata, K.; Sanadi, D. R.: Human mitochondrial ATP synthase: cloning cDNA for the nuclear-encoded precursor of coupling factor 6. Gene 97: 307-310, 1991.
[0020580]11168.Webster, K. A.; Oliver, N. A.; Wallace, D. C.: Assignment of an oligomycin-resistance locus to human chromosome 10. Somat. Cell Genet. 8: 223-244, 1982.
[0020581]11169.Parker, A. E.; Van de Weyer, I.; Laus, M. C.; Oostveen, I.; Yon, J.; Verhasselt, P.; Luyten, W. H. M. L.: A human homologue of Schizosaccharomyces pombe rad1+ checkpoint gene encodes an exonuclease. J. Biol. Chem. 273: 18332-18339, 1998.
[0020582]11170.Headon, D. J.; Overbeek, P. A.: Involvement of a novel Tnf receptor homologue in hair follicle induction. Nature Genet. 22: 370-374, 1999.
[0020583]11171.Hashimoto, T.; Inazawa, J.; Okamoto, N.; Tagawa, Y.; Bessho, Y.; Honda, Y.; Nakanishi, S.: The whole nucleotide sequence and chromosomal localization of the gene for human metabotropic glutamate receptor subtype 6. Europ. J. Neurosci. 9: 1226-1235, 1997.
[0020584]11172.Masu, M.; Iwakabe, H.; Tagawa, Y.; Miyoshi, T.; Yamashita, M.; Fokuda, Y.; Sasaki, H.; Hiroi, K.; Nakamura, Y.; Shigemoto, R.; Takada, M.; Nakamura, K.; Nakao, K.; Katsuki, M.; Nakanishi, S.: Specific deficit of the ON response in visual transmission by targeted disruption of the mGluR6 gene. Cell 80: 757-765, 1995.
[0020585]11173.Nakajima, Y.; Iwakabe, H.; Akazawa, C.; Nawa, H.; Shigemoto, R.; Mizuno, N.; Nakanishi, S.: Molecular characterization of a novel retinal metabotropic glutamate receptor mGluR6 with a high agonist selectivity for L-2-amino-4-phosphonobutyrate. J. Biol. Chem. 268: 11868-11873, 1993.
[0020586]11174.Barbon, A.; Ferraboli, S.; Barlati, S.: Assignment of the human metabotropic glutamate receptor gene GRM4 to chromosome 6 band p21.3 by radiation hybrid mapping. Cytogenet. Cell Genet. 88: 210 only, 2000.
[0020587]11175.Inoue, N.; Hess, K. D.; Moreadith, R. W.; Richardson, L. L.; Handel, M. A.; Watson, M. L.; Zinn, A. R.: New gene family defined by MORC, a nuclear protein required for mouse spermatogenesis. Hum. Molec. Genet. 8: 1201-1207, 1999.
[0020588]11176.Watson, M. L.; Zinn, A. R.; Inoue, N.; Hess, K. D.; Cobb, J.; Handel, M. A.; Halaban, R.; Duchene, C. C.; Albright, G. M.; Moreadith, R. W.: Identification of morc (microrchidia), a mutation that results in arrest of spermatogenesis at an early meiotic stage in the the mouse. Proc. Nat. Acad. Sci. 95: 14361-14366, 1998.
[0020589]11177.Morita, R.; Miyazaki, E.; Fong, C. G.; Chen, X.-N.; Korenberg, J. R.; Delgado-Escueta, A. V.; Yamakawa, K.: JH8, a gene highly homologous to the mouse jerky gene, maps to the region for childhood absence epilepsy on 8q24. Biochem. Biophys. Res. Commun. 248: 307-314, 1998.
[0020590]11178.Toth, M.; Grimsby, J.; Buzsaki, G.; Donovan, G. P.: Epileptic seizures caused by inactivation of a novel gene, jerky, related to centromere binding protein-B in transgenic mice. Nature Genet. 11: 71-75, 1995. Note: Erratum: Nature Genet. 12: 110 only, 1996.
[0020591]11179.Zeng, Z.; Kyaw, H.; Gakenheimer, K. R.; Augustus, M.; Fan, P.; Zhang, X.; Su, K.; Carter, K. C.; Li, Y.: Cloning, mapping, and tissue distribution of a human homologue of the mouse jerky gene product. Biochem. Biophys. Res. Commun. 236: 389-395, 1997.
[0020592]11180.Honda, K.; Yamada, T.; Endo, R.; Ino, Y.; Gotoh, M.; Tsuda, H.; Yamada, Y.; Chiba, H.; Hirohashi, S.: Actinin-4, a novel actin-bundling protein associated with cell motility and cancer invasion. J. Cell Biol. 140: 1383-1393, 1998. Note: Erratum: J. Cell Biol. 143: 277 only, 1998.
[0020593]11181.Kimura, M.; Matsuda, Y.; Eki, T.; Yoshioka, T.; Okumura, K.; Hanaoka, F.; Okano, Y.: Assignment of STK6 to human chromosome 20q13.2-q13.3 and a pseudogene STK6P to 1q41-q42. Cytogenet. Cell Genet. 79: 201-203, 1997.
[0020594]11182.Bryan, J.; Edwards, R.; Matsudaira, P.; Otto, J.; Wulfkuhle, J. : Fascin, an echinoid actin-bundling protein, is a homolog of the Drosophila singed gene product. Proc. Nat. Acad. Sci. 90: 9115-9119, 1993.
[0020595]11183.Dressel, U.; Thormeyer, D.; Altincicek, B.; Paululat, A.; Eggert, M.; Schneider, S.; Tenbaum, S. P.; Renkawitz, R.; Baniahmad, A.: Alien, a highly conserved protein with characteristics of a corepressor for members of the nuclear hormone receptor superfamily. Molec. Cell. Biol. 19: 3383-3394, 1999.
[0020596]11184.Schaefer, L.; Beermann, M. L.; Miller, J. B.: Coding sequence, genomic organization, chromosomal localization, and expression pattern of the signalosome component Cops2: the mouse homologue of Drosophila alien. Genomics 56: 310-316, 1999.
[0020597]11185.Scott, A. F.: Personal Communication. Baltimore, Md. 11/8/2000.
[0020598]11186.Seeger, M.; Kraft, R.; Ferrell, K.; Dawadschargal, B.-O.; Dumdey, R.; Schade, R.; Gordon, C.; Naumann, M.; Dubiel, W.: A novel protein complex involved in signal transduction possessing similarities to 26S proteasome subunits. FASEB J. 12: 469-478, 1998.
[0020599]11187.Born, T. L.; Thomassen, E.; Bird, T. A.; Sims, J. E.: Cloning of a novel receptor subunit, AcPL, required for interleukin-18 signaling. J. Biol. Chem. 273: 29445-29450, 1998.
[0020600]11188.Csoka, A. B.; Scherer, S. W.; Stern, R.: Expression analysis of six paralogous human hyaluronidase genes clustered on chromosomes 3p21 and 17q31. Genomics 60: 356-361, 1999.
[0020601]11189.Spurkland, A.; Brinchmann, J. E.; Markussen, G.; Pedeutour, F.; Munthe, E.; Lea, T.; Vartdal, F.; Aasheim, H.-C.: Molecular cloning of a T cell-specific adapter protein (TSAd) containing an Src homology (SH) 2 domain and putative SH3 and phosphotyrosine binding sites. J. Biol. Chem. 273: 4539-4546, 1998.
[0020602]11190.Fu, C.; Turck, C. W.; Kurosaki, T.; Chan, A. C.: BLNK: a central linker protein in B cell activation. Immunity 9: 93-103, 1998.
[0020603]11191.Ishiai, M.; Kurosaki, M.; Pappu, R.; Okawa, K.; Ronko, I.; Fu, C.; Shibata, M.; Iwamatsu, A.; Chan, A. C.; Kurosaki, T.: BLNK required for cloning Syk to PLC-gamma-2 and Rac1-JNK in B cells. Immunity 10: 117-125, 1999.
[0020604]11192.Minegishi, Y.; Rohrer, J.; Coustan-Smith, E.; Lederman, H. M.; Pappu, R.; Campana, D.; Chan, A. C.; Conley, M. E.: An essential role for BLNK in human B cell development. Science 286: 1954-1957, 1999.
[0020605]11193.Wang, L.; Mizzen, C.; Ying, C.; Candau, R.; Barlev, N.; Brownell, J.; Allis, C. D.; Berger, S. L.: Histone acetyltransferase activity is conserved between yeast and human GCN5 and is required for complementation of growth and transcriptional activation. Molec. Cell. Biol. 17: 519-527, 1997.
[0020606]11194.Xu, W.; Edmondson, D. G.; Evrard, Y. A.; Wakamiya, M.; Behringer, R. R.; Roth, S. Y.: Loss of Gcn5l2 leads to increased apoptosis and mesodermal defects during mouse development. Nature Genet. 26: 229-232, 2000.
[0020607]11195.Xu, W.; Edmondson, D. G.; Roth, S. Y.: Mammalian GCN5 and P/CAF acetyltransferases have homologous amino-terminal domains important for recognition of nucleosomal substrates. Molec. Cell. Biol. 18: 5659-5669, 1998.
[0020608]11196.Yang, X.-J.; Ogryzko, V. V.; Nishikawa, J.; Howard, B. H.; Nakatani, Y.: A p300/CBP-associated factor that competes with the adenoviral oncoprotein E1A. Nature 382: 319-324, 1996.
[0020609]11197.Ahmad, W.; Nomura, K.; McGrath, J. A.; Hashimoto, I.; Christiano, A. M.: A homozygous nonsense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia. (Letter) J. Invest. Derm. 113: 281-283, 1999.
[0020610]11198.Ahmad, W.; Zlotogorski, A.; Panteleyev, A. A.; Lam, H.; Ahmad, M.; ul Haque, M. F.; Abdallah, H. M.; Dragan, L.; Christiano, A. M. : Genomic organization of the human hairless gene (HR) and identification of a mutation underlying congenital atrichia in an Arab Palestinian family. Genomics 56: 141-148, 1999.
[0020611]11199.Brooke, H. C.: Hairless mice. J. Hered. 17: 173-174, 1926.
[0020612]11200.Cichon, S.; Anker, M.; Vogt, I. R.; Rohleder, H.; Putzstuck, M.; Hillmer, A.; Farooq, S. A.; Al-Dhafri, K. S.; Ahmad, M.; Haque, S.; Rietschel, M.; Propping, P.; Kruse, R.; Nothen, M. M.: Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia. Hum. Molec. Genet. 7: 1671-1679, 1998.
[0020613]11201.Davies, K.: Hair apparent. Nature 391: 537-539, 1998.
[0020614]11202.Gallagher, C. H.; Canfield, P. J.; Greenoak, G. E; Reeve, V. E. : Characterization and histogenesis of tumors in the hairless mouse produced by low-dosage incremental ultraviolet radiation. J. Invest. Derm. 83: 169-174, 1984.
[0020615]11203.Morrissey, P. J.; Parkinson, D. R.; Schwartz, R. S.; Waksal, S. D.: Immunologic abnormalities in HRS/J mice.: I. specific deficit in T lymphocyte helper function in a mutant mouse. J. Immun. 125: 1558-1562, 1980.
[0020616]11204.Nomura, K.; Hashimoto, I.: Atrichia with papular lesions: successful genetic counselling about having a child. (Letter) Brit. J. Derm. 139: 742-743, 1998.
[0020617]11205.Potter, G. B.; Beaudoin, G. M. J., III; DeRenzo, C. L.; Zarach, J. M.; Chen, S. H.; Thompson, C. C.: The hairless gene mutated in congenital hair loss disorders encodes a novel nuclear receptor corepressor. Genes Dev. 15: 2687-2701, 2001.
[0020618]11206.Schuddekopf, K.; Schorpp, M.; Boehm, T.: The whn transcription factor encoded by the nude locus contains an evolutionarily conserved and functionally indispensable activation domain. Proc. Nat. Acad. Sci. 93: 9661-9664, 1996.
[0020619]11207.Stoye, J. P.; Fenner, S.; Greenoak, G. E.; Moran, C.; Coffin, J. M.: Role of endogenous retroviruses as mutagens: the hairless mutation of mice. Cell 54: 383-391, 1988.
[0020620]11208.Thompson, C. C.: Thyroid hormone-responsive genes in developing cerebellum include a novel synaptotagmin and a hairless homolog. J. Neurosci. 16: 7832-7840, 1996.
[0020621]11209.Sillence, D. O.; Barlow, K. K.; Garber, A. P.; Hall, J. G.; Rimoin, D. L.: Osteogenesis imperfecta type II: delineation of the phenotype with reference to genetic heterogeneity. Am. J. Med. Genet. 17: 407-423, 1984.
[0020622]11210.Miao, D.; He, B.; Karaplis, A. C.; Goltzman, D.: Parathyroid hormone is essential for normal fetal bone formation. J. Clin. Invest. 109: 1173-1182, 2002.
[0020623]11211.Raizis, A. M.; Becroft, D. M.; Shaw, R. L.; Reeve, A. E.: A mitotic recombination in Wilms tumor occurs between the parathyroid hormone locus and 11p13. Hum. Genet. 70: 344-346, 1985.
[0020624]11212.Betticher, D. C.; Thatcher, N.; Altermatt, H. J.; Hoban, P.; Ryder, W. D. J.; Heighway, J.: Alternate splicing produces a novel cyclin D1 transcript. Oncogene 11: 1005-1011, 1995.
[0020625]11213.Chesi, M.; Bergsagel, P. L.; Brents, L. A.; Smith, C. M.; Gerhard, D. S.; Kuehl, W. M.: Dysregulation of cyclin D1 by translocation into an IgH gamma switch region in two multiple myeloma cell lines. Blood 88: 674-681, 1996.
[0020626]11214.Gailani, M. R.; Petty, E. M.; Horsthemke, B.; Arnold, A.; Marx, S. J.; Bale, A. E.: Physical mapping of chromosome 11q12-13 by pulsed field gel electrophoresis (PFGE). (Abstract) Cytogenet. Cell Genet. 58: 1959, 1991.
[0020627]11215.Geng, Y.; Yu, Q.; Sicinska, E.; Das, M.; Bronson, R. T.; Sicinski, P.: Deletion of the p27(Kip1) gene restores normal development in cyclin D1-deficient mice. Proc. Nat. Acad. Sci. 98: 194-199, 2001.
[0020628]11216.Hayette, S.; Gadoux, M.; Martel, S.; Bertrand, S.; Tigaud, I.; Magaud, J.-P.; Rimokh, R.: FLRG (follistatin-related gene), a new target of chromosomal rearrangement in malignant blood disorders. Oncogene 16: 2949-2954, 1998.
[0020629]11217.Chang, S. S.; Grunder, S.; Hanukoglu, A.; Rosler, A.; Mathew, P. M.; Hanukoglu, I.; Schild, L.; Lu, Y.; Shimkets, R. A.; Nelson-Williams, C.; Rossier, B. C.; Lifton, R. P.: Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1. Nature Genet. 12: 248-253, 1996.
[0020630]11218.Tajima, T.; Kitagawa, H.; Yokoya, S.; Tachibana, K.; Adachi, M.; Nakae, J.; Suwa, S; Katoh, S.; Fujieda, K.: A novel missense mutation of mineralocorticoid receptor gene in one Japanese family with a renal form of pseudohypoaldosteronism type 1. J. Clin. Endocr. Metab. 85: 4690-4694, 2000.
[0020631]11219.Viemann, M.; Peter, M.; Lopez-Siguero, J. P.; Simic-Schleicher, G.; Sippell, W. G.: Evidence for genetic heterogeneity of pseudohypoaldosteronism type 1: identification of a novel mutation in the human mineralocorticoid receptor in one sporadic case and no mutations in two autosomal dominant kindreds. J. Clin. Endocr. Metab. 86: 2056-2059, 2001.
[0020632]11220.Hoyer, L. W.: The factor VIII complex: structure and function. Blood 58: 1-13, 1981.
[0020633]11221.Lee, Y. L.; Helman, L.; Hoffman, T.; Laborda, J.: dlk, pG2 and Pref-1 mRNAs encode similar proteins belonging to the EGF-like superfamily. Identification of polymorphic variants of this RNA. Biochim. Biophys. Acta 1261: 223-232, 1995.
[0020634]11222.Smas, C. M.; Sul, H. S.: Pref-1, a protein containing EGF-like repeats, inhibits adipocyte differentiation. Cell 73: 725-734, 1993.
[0020635]11223.Takada, S.; Paulsen, M.; Tevendale, M.; Tsai, C.-E.; Kelsey, G.; Cattanach, B. M.; Ferguson-Smith, A. C.: Epigenetic analysis of the Dlk1-Gtl2 imprinted domain on mouse chromosome 12: implications for imprinting control from comparison with Igf2-H19. Hum. Molec. Genet. 11: 77-86, 2002.
[0020636]11224.Wylie, A. A.; Murphy, S. K.; Orton, T. C.; Jirtle, R. L.: Novel imprinted DLK1/GTL2 domain on human chromosome 14 contains motifs that mimic those implicated in IGF2/H19 regulation. Genome Res. 10: 1711-1718, 2000.
[0020637]11225.Okumura, K.; Nogami, M.; Taguchi, H.; Hisamatsu, H.; Tanaka, K. : The genes for the alpha-type HC3 (PMSA2) and beta-type HC5 (PMSB1) subunits of human proteasomes map to chromosomes 6q27 and 7p12-p13 by fluorescence in situ hybridization. Genomics 27: 377-379, 1995.
[0020638]11226.Tamura, T.; Lee, D. H.; Osaka, F.; Fujiwara, T.; Shin, S.; Chung, C. H.; Tanaka, K.; Ichihara, A.: Molecular cloning and sequence analysis of cDNAs for five major subunits of human proteasomes (multi-catalytic proteinase complexes). Biochim. Biophys. Acta 1089: 95-102, 1991.
[0020639]11227.Tamura, T.; Osaka, F.; Kawamura, Y.; Higuchi, T.; Ishida, N.; Nothwang, H. G.; Tsurumi, C.; Tanaka, K.; Ichihara, A. :J. Molec. Biol. 244: 1117-1124, 1994.
[0020640]11228.DeVry, C. G.; Clarke, S.: Assignment of the protein L-isoaspartate (D-aspartate) Omethyltransferase gene (PCMT1) to human chromosome bands 6q24-q25 with radiation hybrid mapping. Cytogenet. Cell Genet. 84: 130-131, 1999.
[0020641]11229.Farrar, C.; Clarke, S.: Altered levels of S-adenosylmethionine and Sadenosylhomocysteine in the brains of L-isoaspartyl (D-aspartyl) O-methyltransferase-deficient mice. J. Biol. Chem. 277: 27856-27863, 2002.
[0020642]11230.Ingrosso, D.; Kagan, R. M.; Clarke, S.: Distinct C-terminal sequences of isozymes I and II of the human erythrocyte L-isoaspartyl/D-aspartyl protein methyltransferase. Biochem. Biophys. Res. Commun. 175: 351-358, 1991.
[0020643]11231.Kim, E.; Lowenson, J. D.; Clarke, S.; Young, S. G.: Phenotypic analysis of seizureprone mice lacking L-isoaspartate (D-aspartate) O-methyltransferase. J. Biol. Chem. 274: 20671-20678, 1999.
[0020644]11232.Lowenson, J. D.; Kim, E.; Young, S. G.; Clarke, S.: Limited accumulation of damaged proteins in L-isoaspartyl (D-aspartyl) O-methyltransferase-deficient mice. J. Biol. Chem. 276: 20695-20702, 2001.
[0020645]11233.MacLaren, D. C.; Kagan, R. M.; Clarke, S.: Alternative splicing of the human isoaspartyl protein carboxyl methyltransferase leads to the generation of a C-terminal -RDEL sequence in isozyme II. Biochem. Biophys. Res. Commun. 185: 277-283, 1992.
[0020646]11234.MacLaren, D. C.; O'Connor, C. M.; Xia, Y.-R.; Mehrabian, M.; Klisak, I.; Sparkes, R. S.; Clarke, S.; Lusis, A. J.: The L-isoaspartyl/D-aspartyl protein methyltransferase gene (PCMT1) maps to human chromosome 6q22.3-6q24 and the syntenic region of mouse chromosome 10. Genomics 14: 852-856, 1992.
[0020647]11235.Ota, I. M.; Gilbert, J. M.; Clarke, S.: Two major isozymes of the protein D-aspartyl/Lisoaspartyl methyltransferase from human erythrocytes. Biochem. Biophys. Res. Commun. 151: 1136-1143, 1988.
[0020648]11236.Ton, C. C. T.; Huff, V.; Call, K. M.; Cohn, S.; Strong, L. C.; Housman, D. E.; Saunders, G. F.: Smallest region of overlap in Wilms tumor deletions uniquely implicates an 11p13 zinc finger gene as the disease locus. Genomics 10: 293-297, 1991.
[0020649]11237.Astrom, A.-K.; Voz, M. L.; Kas, K.; Roijer, E.; Wedell, B.; Mandahl, N.; Van de Ven, W.; Mark, J.; Stenman, G.: Conserved mechanism of PLAG1 activation in salivary gland tumors with and without chromosome 8q12 abnormalities: identification of SII as a new fusion partner gene. Cancer Res. 59: 918-923, 1999.
[0020650]11238.Bullerdiek, J.; Bartnitzke, S.; Weinberg, M.; Chilla, R.; Haubrich, J.; Schloot, W.: Rearrangements of chromosome region 12q13-q15 in pleomorphic adenomas of the human salivary gland (PSA). Cytogenet. Cell Genet. 45: 187-190, 1987.
[0020651]11239.Bullerdiek, J.; Raabe, G.; Bartnitzke, S.; Boschen, C.; Schloot, W.: Structural rearrangements of chromosome #8 involving 8q12--a primary event in pleomorphic adenomas of the parotid gland. Genetica 72: 85-92, 1987.
[0020652]11240.Mark, J.; Dahlenfors, R.: Cytogenetical observations in 100 human benign pleomorphic adenomas: specificity of the chromosomal aberrations and their relationship to sites of localized oncogenes. Anticancer Res. 6: 299-308, 1986.
[0020653]11241.Stenman, G.; Sandros, J.; Mark, J.; Nordkvist, A.: High p21(RAS) expression levels correlate with chromosome 8 rearrangements in benign human mixed salivary gland tumors. Genes Chromosomes Cancer 1: 59-66, 1989.
[0020654]11242.Aksoy, M.; Erdem, S.; Dincol, G.; Erdogan, G.; Cilingiroglu, K.; Dincol, K.: Combination of hereditary elliptocytosis and hereditary spherocytosis. Clin. Genet. 6: 46-50, 1974.
[0020655]11243.Goodman, S. R.; Shiffer, K. A.; Casoria, L. A.; Eyster, M. E. : Identification of the molecular defect in the erythrocyte membrane skeleton of some kindreds with hereditary spherocytosis. Blood 60: 772-784, 1982.
[0020656]11244.Kimberling, W. J.; Taylor, R. A.; Chapman, R. G.; Lubs, H. A. : Linkage and gene localization of hereditary spherocytosis (HS). Blood 52: 859-867, 1978.
[0020657]11245.Hinds, P. W.; Dowdy, S. F.; Eaton, E. N.; Arnold, A.; Weinberg, R. A.: Function of a human cyclin gene as an oncogene. Proc. Nat. Acad. Sci. 91: 709-713, 1994.
[0020658]11246.Goldfarb, L. G.; Petersen, R. B.; Tabaton, M.; Brown, P.; LeBlanc, A. C.; Montagna, P.; Cortelli, P.; Julien, J.; Vital, C.; Pendelbury, W. W.; Haltia, M.; Wills, P. R.; Hauw, J. J.; McKeever, P. E.; Monari, L.; Schrank, B.; Swergold, G. D.; Autilio-Gambetti, L.; Gajdusek, D. C.; Lugaresi, E.; Gambetti, P.: Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism. Science 258: 806-808, 1992.
[0020659]11247.Komatsu, H.; Iida, S.; Yamamoto, K.; Mikuni, C.; Nitta, M.; Takahashi, T.; Ueda, R.; Seto, M.: A variant chromosome translocation at 11q13 identifying PRAD1/cyclin D1 as the BCL-1 gene . Blood 84: 1226-1231, 1994.
[0020660]11248.Kong, S.; Amos, C. I.; Luthra, R.; Lynch, P. M.; Levin, B.; Frazier, M. L.: Effects of cyclin D1 polymorphism on age of onset of hereditary nonpolyposis colorectal cancer. Cancer Res. 60: 249-252, 2000.
[0020661]11249.Kong, S.; Wei, Q.; Amos, C. I.; Lynch, P. M.; Zong, J.; Frazier, M. L.: Cyclin D1 polymorphism and increased risk of colorectal cancer at young age. J. Nat. Cancer Inst. 93: 1106-1108, 2001.
[0020662]11250.Ma, C.; Papermaster, D.; Cepko, C. L.: A unique pattern of photoreceptor degeneration in cyclin D1 mutant mice. Proc. Nat. Acad. Sci. 95: 9938-9943, 1998.
[0020663]11251.Motokura, T.; Bloom, T.; Kim, H. G.; Juppner, H.; Ruderman, J. V.; Kronenberg, H. M.; Arnold, A.: A novel cyclin encoded by a bcl1-linked candidate oncogene. Nature 350: 512-515, 1991.
[0020664]11252.Muller, H.; Lukas, J.; Schneider, A.; Warthoe, P.; Bartek, J.; Eilers, M.; Strauss, M.: Cyclin D1 expression is regulated by the retinoblastoma protein. Proc. Nat. Acad. Sci. 91: 2945-2949, 1994.
[0020665]11253.Richard, C. W., III; Withers, D. A.; Meeker, T. C.; Maurer, S.; Evans, G. A.; Myers, R. M.; Cox, D. R.: A radiation hybrid map of the proximal long arm of human chromosome 11 containing the multiple endocrine neoplasia type I (MEN-1) and bcl-1 disease loci. Am. J. Hum. Genet. 49: 1189-1196, 1991.
[0020666]11254.Rimokh, R.; Berger, F.; Bastard, C.; Klein, B.; French, M.; Archimbaud, E.; Rouault, J. P.; Santa Lucia, B.; Duret, L.; Vuillaume, M.; et al.: Rearrangement of CCND1 (BCL1/PRAD1) 3-prime untranslated region in mantle-cell lymphomas and t(11q13)-associated leukemias. Blood 83: 3689-3696, 1994.
[0020667]11255.Rimokh, R.; Berger, F.; Delsol, G.; Charrin, C.; Bertheas, M. F.; Ffrench, M.; Garoscio, M.; Felman, P.; Coiffier, C.; Bryon, P. A.: Rearrangement and overexpression of the BCL-1/PRAD-1 gene in intermediate lymphocytic lymphomas and in t(11q13)-bearing leukemias. Blood 81: 3063-3067, 1993.
[0020668]11256.Rosenberg, C. L.; Kim, H. G.; Shows, T. B.; Kronenberg, H. M.; Arnold, A.: Rearrangement and overexpression of D11S287E, a candidate oncogene on chromosome 11q13 in benign parathyroid tumors. Oncogene 6: 449-453, 1991.
[0020669]11257.Sicinski, P.; Donaher, J. L.; Parker, S. B.; Li, T.; Fazeli, A.; Gardner, H.; Haslam, S. Z.; Bronson, R. T.; Elledge, S. J.; Weinberg, R. A.: Cyclin D1 provides a link between development and oncogenesis in the retina and breast. Cell 82: 621-630, 1995.
[0020670]11258.Szepetowski, P.; Perucca-Lostanlen, D.; Gaudray, P.: Mapping genes according to their amplification status in tumor cells: contribution to the map of 11q13. Genomics 16: 745-750, 1993.
[0020671]11259.Converse, P. J.: Personal Communication. Baltimore, Md. 2/12/2002.
[0020672]11260.Flowers, K. M.; Mellor, H.; Kimball, S. R.; Jefferson, L. S.: Structure and sequence of the gene encoding the alpha-subunit of rat translation initiation factor-2B. Biochim. Biophys. Acta 1264: 163-167, 1995.
[0020673]11261.Wang, R.; Cukerman, E.; Heng, H. H. Q.; Liew, C.-C.: Identification of a locus of zinc finger genes in human chromosome 19q13.1-q13.3 region by fluorescence in situ hybridization. Somat. Cell Molec. Genet. 22: 245-248, 1996.
[0020674]11262.Clark, T. G.; Conway, S. J.; Scott, I. C.; Labosky, P. A.; Winnier, G.; Bundy, J.; Hogan, B. L. M.; Greenspan, D. S.: The mammalian Tolloid-like 1 gene, Tll1, is necessary for normal septation and positioning of the heart. Development 126: 126:-2631-2642, 1999.
[0020675]11263.Scott, I. C.; Clark, T. G.; Takahara, K.; Hoffman, G. G.; Eddy, R. L.; Haley, L. L.; Shows, T. B.; Greenspan, D. S.: Assignment of TLL1 and TLL2, which encode human BMP-1/tolloidrelated metalloproteases, to chromosomes 4q32-q33 and 10q23-q24 and assignment of murine Tll2 to chromosome 19. Cytogenet. Cell Genet. 86: 64-65, 1999.
[0020676]11264.Takahara, K.; Brevard, R.; Hoffman, G. G.; Suzuki, N.; Greenspan, D. S.: Characterization of a novel gene product (mammalian tolloid-like) with high sequence similarity to mammalian tolloid/bone morphogenetic protein-1. Genomics 34: 157-165, 1996.
[0020677]11265.Bauer, W. O.; Nanda, I.; Beck, G.; Schmid, M.; Jakob, F.: Human puromycin-sensitive aminopeptidase: cloning of 3-prime UTR, evidence for a polymorphism at aa 140 and refined chromosomal localization to 17q21. Cytogenet. Cell Genet. 92: 221-224, 2001.
[0020678]11266.Huber, G.; Thompson, A.; Gruninger, F.; Mechler, H.; Hochstrasser, R.; Hauri, H.-P.; Malherbe, P.: cDNA cloning and molecular characterization of human brain metalloprotease MP100: a beta-secretase candidate? J. Neurochem. 72: 1215-1223, 1999.
[0020679]11267.Osada, T.; Sakaki, Y.; Takeuchi, T.: Puromycin-sensitive aminopeptidase gene (Psa) maps to mouse chromosome 11. Genomics 56: 361-362, 1999.
[0020680]11268.Schonlein, C.; Loffler, J.; Huber, G.: Purification and characterization of a novel metalloprotease from human brain with the ability to cleave substrates derived from the N-terminus of beta-amyloid protein. Biochem. Biophys. Res. Commun. 201: 45-53, 1994.
[0020681]11269.Thompson, M. W.; Tobler, A.; Fontana, A.; Hersh, L. B.: Cloning and analysis of the gene for the human puromycin-sensitive aminopeptidase. Biochem. Biophys. Res. Commun. 258: 234-240, 1999.
[0020682]11270.Tobler, A. R.; Constam, D. B.; Schmitt-Graff, A.; Malipiero, U.; Schlapbach, R.; Fontana, A.: Cloning of the human puromycin-sensitive aminopeptidase and evidence for expression in neurons. J. Neurochem. 68: 889-897, 1997.
[0020683]11271.Zhang, Y.; Cai, X.; Schlegelberger, B.; Zheng, S.: Assignment of human putative tumor suppressor genes ST13 (alias SNC6) and ST14 (alias SNC19) to human chromosome bands 22q13 and 11q24-q25 by in situ hybridization. Cytogenet. Cell Genet. 83: 56-57, 1998.
[0020684]11272.Friedrich, R.; Fuentes-Prior, P.; Ong, E.; Coombs, G.; Hunter, M.; Oehler, R.; Pierson, D.; Gonzalez, R.; Huber, R.; Bode, W.; Madison, E. L.: Catalytic domain structures of MTSP1/ matriptase, a matrix- degrading transmembrane serine proteinase. J. Biol. Chem. 277: 2160-2168, 2002.
[0020685]11273.Lin, C.-Y.; Wang, J.-K.; Torri, J.; Dou, L.; Sang, Q. A.; Dickson, R. B.: Characterization of a novel, membrane-bound, 80-kDa matrix-degrading protease from human breast cancer cells: monoclonal antibody production, isolation, and localization. J. Biol. Chem. 272: 9147-9152, 1997.
[0020686]11274.Gacy, A. M.; Goellner, G. M.; Spiro, C.; Chen, X.; Gupta, G.; Bradbury, E. M.; Dyer, R. B.; Mikesell, M. J.; Yao, J. Z.; Johnson, A. J.; Richter, A.; Melancon, S. B.; McMurray, C. T.: GAA instability in Friedreich's ataxia shares a common, DNA-directed and intraallelic mechanism with other trinucleotide diseases. Molec. Cell 1: 583-593, 1998.
[0020687]11275.Gordon, D. M.; Kogan, M.; Knight, S. A. B.; Dancis, A.; Pain, D.: Distinct roles for two N-terminal cleaved domains in mitochondrial import of the yeast frataxin homolog, Yfh1p. Hum. Molec. Genet. 10: 259-269, 2001.
[0020688]11276.Koenig, M.; Mandel, J.-L.: Deciphering the cause of Friedreich ataxia. Curr. Opin. Neurobiol. 7: 689-694, 1997.
[0020689]11277.Montermini, L.; Rodius, F.; Pianese, L.; Molto, M. D.; Cossee, M.; Campuzano, V.; Cavalcanti, F.; Monticelli, A.; Palau, F.; Gyapay, G.; Wenhert, M.; Zara, F.; Patel, P. I.; Cocozza, S.; Koenig, M.; Pandolfo, M.: The Friedreich ataxia critical region spans a 150-kb interval on chromosome 9q13. Am. J. Hum. Genet. 57: 1061-1067, 1995.
[0020690]11278.Pandolfo, M.: Personal Communication. Montreal, Canada 4/28/1997.
[0020691]11279.Ristow, M.; Pfister, M. F.; Yee, A. J.; Schubert, M.; Michael, L.; Zhang, C.-Y.; Ueki, K.; Michael, M. D., II; Lowell, B. B.; Kahn, C. R.: Frataxin activates mitochondrial energy conversion and oxidative phosphorylation. Proc. Nat. Acad. Sci. 97: 12239-12243, 2000.
[0020692]11280.Sakamoto, N.; Chastain, P. D.; Parniewski, P.; Ohshima, K.; Pandolfo, M.; Griffith, J. D.; Wells, R. D.: Sticky DNA: self-association properties of long GAA-TTC repeats in R-R-Y triplex structures from Friedrich's ataxia. Molec. Cell 3: 465-475, 1999.
[0020693]11281.Santos, M. M.; Ohshima, K.; Pandolfo, M.: Frataxin deficiency enhances apoptosis in cells differentiating into neuroectoderm. Hum. Molec. Genet. 10: 1935-1944, 2001.
[0020694]11282.Shoichet, S. A.; Baumer, A. T.; Stamenkovic, D.; Sauer, H.; Pfeiffer, A. F. H.; Kahn, C. R.; Muller-Wieland, D.; Richter, C.; Ristow, M. : Frataxin promotes antioxidant defense in a thioldependent manner resulting in diminished malignant transformation in vitro. Hum. Molec. Genet. 11: 815-821, 2002.
[0020695]11283.Wilson, R. B.; Roof, D. M.: Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue. Nature Genet. 16: 352-357, 1997.
[0020696]11284.Zuhlke, C.; Laccone, F.; Cossee, M.; Kohlschutter, A.; Koenig, M.; Schwinger, E.: Mutation of the start codon in the FRDA1 gene: linkage analysis of three pedigrees with the ATG to ATT transversion points to a unique common ancestor. Hum. Genet. 103: 102-105, 1998.
[0020697]11285.Yuan, C.-X.; Ito, M.; Fondell, J. D.; Fu, Z.-Y.; Roeder, R. G. : The TRAP220 component of a thyroid hormone receptor-associated protein (TRAP) coactivator complex interacts directly with nuclear receptors in a ligand-dependent fashion. Proc. Nat. Acad. Sci. 95: 7939-7944, 1998.
[0020698]11286.Zhang, J.; Fondell, J. D.: Identification of mouse TRAP100: a transcriptional coregulatory factor for thyroid hormone and vitamin D receptors. Molec. Endocr. 13: 1130-1140, 1999.
[0020699]11287.Csoka, T. B.; Frost, G. I.; Heng, H. H. Q.; Scherer, S. W.; Mohapatra, G.; Stern, R.: The hyaluronidase gene HYAL1 maps to chromosome 3p21.2-p21.3 in human and 9F1-F2 in mouse, a conserved candidate tumor suppressor locus. Genomics 48: 63-70, 1998.
[0020700]11288.Frost, G. I.; Csoka, T. B.; Wong, T.; Stern, R.: Purification, cloning, and expression of human plasma hyaluronidase. Biochem. Biophys. Res. Commun. 236: 10-15, 1997.
[0020701]11289.Laurent, T. C.; Fraser, J. R. E.: Hyaluronan. FASEB J. 6: 2397-2404, 1992.
[0020702]11290.Sturany, S.; Van Lint, J.; Muller, F.; Wilda, M.; Hameister, H.; Hocker, M.; Brey, A.; Gern, U.; Vandenheede, J.; Gress, T.; Adler, G.; Seufferlein, T.: Molecular cloning and characterization of the human protein kinase D2: a novel member of the protein kinase D family of serine threonine kinases. J. Biol. Chem. 276: 3310-3318, 2001.
[0020703]11291.Fischer, W. H.; Schubert, D.: Characterization of a novel platelet-derived growth factor-associated protein. J. Neurochem. 66: 2213-2216, 1996.
[0020704]11292.Hayashi, A.; Seki, N.; Hattori, A.; Kozuma, S.; Saito, T.: PKC-nu, a new member of the protein kinase C family, composes a fourth subfamily with PKC-mu. Biochim. Biophys. Acta 1450: 99-106, 1999.
[0020705]11293.Brodbeck, J.; Davies, A.; Courtney, J.-M.; Meir, A.; Balaguero, N.; Canti, C.; Moss, F. J.; Page, K. M.; Pratt, W. S.; Hunt, S. P.; Barclay, J.; Rees, M.; Dolphin, A. C.: The ducky mutation in Cacna2d2 results in altered Purkinje cell morphology and is associated with the expression of a truncated alpha-2/delta-2 protein with abnormal function. J. Biol. Chem. 277: 7684-7693, 2002.
[0020706]11294.Gao, B.; Sekido, Y.; Maximov, A.; Saad, M.; Forgacs, E.; Latif, F.; Wei, M. H.; Lerman, M.; Lee, J.-H.; Perez-Reyes, E.; Bezprozvanny, I.; Minna, J. D.: Functional properties of a new voltage-dependent calcium channel alpha-2/delta auxiliary subunit gene (CACNA2D2). J. Biol. Chem. 275: 12237-12242, 2000.
[0020707]11295.Angrand, P.-O.; Apiou, F.; Stewart, A. F.; Dutrillaux, B.; Losson, R.; Chambon, P.: NSD3, a new SET domain-containing gene, maps to 8p12 and is amplified in human breast cancer cell lines. Genomics 74: 79-88, 2001.
[0020708]11296.Stec, I.; van Ommen, G.-J. B.; den Dunnen, J. T.: WHSC1L1, on human chromosome 8p11.2, closely resembles WHSC1 and maps to a duplicated region shared with 4p16.3. Genomics 76: 5-8, 2001.
[0020709]11297.Corydon, M. J.; Andresen, B. S.; Bross, P.; Kjeldsen, M.; Andreasen, P. H.; Eiberg, H.; Kolvraa, S.; Gregersen, N.: Structural organization of the human short-chain acyl-CoA dehydrogenase gene. Mammalian Genome 8: 922-926, 1997.
[0020710]11298.Van Patten, S. M.; Ng, D. C.; Th'ng, J. P. H.; Angelos, K. L.; Smith, A. J.; Walsh, D. A.: Molecular cloning of a rat testis form of the inhibitor protein of cAMP-dependent protein kinase. Proc. Nat. Acad. Sci. 88: 5383-5387, 1991.
[0020711]11299.Lee, D. K.; George, S. R.; Cheng, R.; Nguyen, T.; Liu, Y.; Brown, M.; Lynch, K. R.; O'Dowd, B. F.: Identification of four novel human G protein-coupled receptors expressed in the brain. Molec. Brain Res. 86: 13-22, 2001.
[0020712]11300.Cikos, S.; Gregor, P.; Koppel, J.: Cloning of a novel biogenic amine receptor-like G protein-coupled receptor expressed in human brain. Biochim. Biophys. Acta 1521: 66-72, 2001.
[0020713]11301.Bascom, R. A.; Srinivasan, S.; Nussbaum, R. L.: Identification and characterization of golgin-84, a novel Golgi integral membrane protein with a cytoplasmic coiled-coil domain. J. Biol. Chem. 274: 2953-2962, 1999. Note: Erratum: J. Biol. Chem 274: 12950 only, 1999.
[0020714]11302.Ishizaka, Y.; Ochiai, M.; Tahira, T.; Sugimura, T.; Nagao, M.: Activation of the ret-II oncogene without a sequence encoding a transmembrane domain and transforming activity of two ret-II oncogene products differing in carboxy-termini due to alternative splicing. Oncogene 4: 789-794, 1989.
[0020715]11303.Klugbauer, S.; Demidchik, E. P.; Lengfelder, E.; Rabes, H. M.: Detection of a novel type of RET rearrangement (PTC5) in thyroid carcinomas after Chernobyl and analysis of the involved RET-fused gene RFG5. Cancer Res. 58: 198-203, 1998.
[0020716]11304.Jiang, J. C.; Kirchman, P. A.; Zagulski, M.; Hunt, J.; Jazwinski, S. M.: Homologs of the yeast longevity gene LAG1 in Caenorhabditis elegans and human. Genome Res. 8: 1259-1272, 1998.
[0020717]11305.Pan, H.; Qin, W.-X.; Huo, K.-K.; Wan, D.-F.; Yu, Y.; Xu, Z.-G.; Hu, Q.-D.; Gu, K. T.; Zhou, X.-M.; Jiang, H.-Q.; Zhang, P.-P.; Huang, Y.; Li, Y.-Y.; Gu, J.-R.: Cloning, mapping, and characterization of a human homologue of the yeast longevity assurance gene LAG1. Genomics 77: 58-64, 2001.
[0020718]11306.Koivisto, U.-M.; Hubbard, A. L.; Mellman, I.: A novel cellular phenotype for familial hypercholesterolemia due to a defect in polarized targeting of LDL receptor. Cell 105: 575-585, 2001.
[0020719]11307.Koivisto, U.-M.; Turtola, H.; Aalto-Setala, K.; Top, B.; Frants, R. R.; Kovanen, P. T.; Syvanen, A.-C.; Kontula, K.: The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland. J. Clin. Invest. 90: 219-228, 1992.
[0020720]11308.Koivisto, U.-M.; Viikari, J. S.; Kontula, K.: Molecular characterization of minor gene rearrangements in Finnish patients with heterozygous familial hypercholesterolemia: identification of two common missense mutations (Gly823-to-Asp and Leu380-to-His) and eight rare mutations of the LDL receptor gene. Am. J. Hum. Genet. 57: 789-797, 1995.
[0020721]11309.Kotze, M. J.; Langenhoven, E.; Warnich, L.; du Plessis, L.; Retief, A. E.: The molecular basis and diagnosis of familial hypercholesterolaemia in South African Afrikaners. Ann. Hum. Genet. 55: 115-121, 1991.
[0020722]11310.Kotze, M. J.; Theart, L.; Peeters, A.; Langenhoven, E.: A de novo duplication in the low density lipoprotein receptor gene. Hum. Mutat. 6: 181-183, 1995.
[0020723]11311.Kotze, M. J.; Warnich, L.; Langenhoven, E.; du Plessis, L.; Retief, A. E.: An exon 4 mutation identified in the majority of South African familial hypercholesterolaemics. J. Med. Genet. 27: 298-302, 1990.
[0020724]11312.Landsberger, D.; Meiner, V.; Reshef, A.; Levy, Y.; van der Westhuyzen, D. R.; Coetzee, G. A.; Leitersdorf, E.: A nonsense mutation in the LDL receptor gene leads to familial hypercholesterolemia in the Druze sect. Am. J. Hum. Genet. 50: 427-433, 1992.
[0020725]11313.Langlois, S.: Personal Communication. Vancouver, British Columbia, Canada 1989.
[0020726]11314.Langlois, S.; Kastelein, J. J. P.; Hayden, M. R.: Characterization of six partial deletions in the low-density-lipoprotein (LDL) receptor gene causing familial hypercholesterolemia (FH). Am. J. Hum. Genet. 43: 60-68, 1988.
[0020727]11315.Lee, W. K.; Haddad, L.; Macleod, M. J.; Dorrance, A. M.; Wilson, D. J.; Gaffney, D.; Dominiczak, M. H.; Packard, C. J.; Day, I. N.; Humphries, S. E.; Dominiczak, A. F.: Identification of a common low density lipoprotein receptor mutation (C163Y) in the West of Scotland. J. Med. Genet. 35: 573-578, 1998.
[0020728]11316.Lehrman, M. A.; Goldstein, J. L.; Russell, D. W.; Brown, M. S. : Duplication of seven exons in LDL receptor gene caused by Alu-Alu recombination in a subject with familial hypercholesterolemia. Cell 48: 827-835, 1987.
[0020729]11317.Lehrman, M. A.; Russell, D. W.; Goldstein, J. L.; Brown, M. S. : Alu-Alu recombination deletes splice acceptor sites and produces secreted low density lipoprotein receptor in a subject with familial hypercholesterolemia. J. Biol. Chem. 262: 3354-3361, 1987.
[0020730]11318.Lehrman, M. A.; Russell, D. W.; Goldstein, J. L.; Brown, M. S. : Exon-Alu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemia. Proc. Nat. Acad. Sci. 83: 3679-3683, 1986.
[0020731]11319.Lehrman, M. A.; Schneider, W. J.; Sudhof, T. C.; Brown, M. S.; Goldstein, J. L.; Russell, D. W.: Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains. Science 227: 140-146, 1985.
[0020732]11320.Leitersdorf, E.; Hobbs, H. H.: Personal Communication. Dallas, Tex. 12/1990.
[0020733]11321.Leitersdorf, E.; Hobbs, H. H.; Fourie, A. M.; Jacobs, M.; van der Westhuyzen, D. R.; Coetzee, G. A.: Deletion in the first cysteine-rich repeat of low-density lipoprotein receptor impairs its transport but not lipoprotein binding in fibroblasts from a subject with familial hypercholesterolemia. Proc. Nat. Acad. Sci. 85: 7912-7916, 1988.
[0020734]11322.Leitersdorf, E.; Tobin, E. J.; Davignon, J.; Hobbs, H. H.: Common low-density lipoprotein receptor mutations in the French Canadian population. J. Clin. Invest. 85: 1014-1023, 1990.
[0020735]11323.Leitersdorf, E.; van der Westhuyzen, D. R.; Coetzee, G. A.; Hobbs, H. H.: Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners. J. Clin. Invest. 84: 954-961, 1989.
[0020736]11324.Lelli, N.; Ghisellini, M.; Calandra, S.; Gaddi, A.; Ciarrocchi, A.; Coviello, D. A.; Bertolini, S.: Duplication of exons 13, 14 and 15 of the LDL-receptor gene in a patient with heterozygous familial hypercholesterolemia. Hum. Genet. 86: 359-362, 1991.
[0020737]11325.Leren, T. P.; Solberg, K.; Rodningen, O. K.; Tonstad, S.; Ose, L.: Two founder mutations in the LDL receptor gene in Norwegian familial hypercholesterolemia subjects. Atherosclerosis 111: 175-182, 1994.
[0020738]11326.Li, H.; Gyllensten, U. B.; Cui, X.; Saiki, R. K.; Erlich, H. A.; Arnheim, N.: Amplification and analysis of DNA sequences in single human sperm and diploid cells. Nature 335: 414-417, 1988.
[0020739]11327.Iiizumi, M.; Arakawa, H.; Mori, T.; Ando, A.; Nakamura, Y.: Isolation of a novel gene, CABC1, encoding a mitochondrial protein that is highly homologous to yeast activity of bc1 complex. Cancer Res. 62: 1246-1250, 2002.
[0020740]11328.Downes, G. B.; Gilbert, D. J.; Copeland, N. G.; Gautam, N.; Jenkins, N. A.: Chromosomal mapping of five mouse G protein gamma subunits. Genomics 57: 173-176, 1999.
[0020741]11329.Modarressi, M. H.; Taylor, K. E.; Wolfe, J.: Cloning, characterization, and mapping of the gene encoding the human G protein gamma-2 subunit. Biochem. Biophys. Res. Commun. 272: 610-615, 2000.
[0020742]11330.Yu, Y.; Zhang, C.; Zhou, G.; Wu, S.; Qu, X.; Wei, H.; Xing, G.; Dong, C.; Zhai, Y.; Wan, J.; Ouyang, S.; Li, L., Zhang, S.; Zhou, K.; Zhang, Y.; Wu, C.; He, F.: Gene expression profiling in human fetal liver and identification of tissue- and developmental-stage-specific genes through compiled expression profiles and efficient cloning of full-length cDNAs. Genome Res. 11: 1392-1403, 2001.
[0020743]11331.Ericsson, J.; Greene, J. M.; Carter, K. C.; Shell, B. K.; Duan, D. R.; Florence, C.; Edwards, P. A.: Human geranylgeranyl diphosphate synthase: isolation of the cDNA, chromosomal mapping and tissue expression. J. Lipid Res. 39: 1731-1739, 1998.
[0020744]11332.Kainou, T.; Kawamura, K.; Tanaka, K.; Matsuda, H.; Kawamukai, M. : Identification of the GGPS1 genes encoding geranylgeranyl diphosphate synthases from mouse and human. Biochim. Biophys. Acta 1437: 333-340, 1999.
[0020745]11333.Kuzuguchi, T.; Morita, Y.; Sagami, I.; Sagami, H.; Ogura, K.: Human geranylgeranyl diphosphate synthase: cDNA cloning and expression. J. Biol. Chem. 274: 5888-5894, 1999.
[0020746]11334.Vicent, D.; Maratos-Flier, E.; Kahn, C. R.: The branch point enzyme of the mevalonate pathway for protein prenylation is overexpressed in the ob/ob mouse and induced by adipogenesis. Molec. Cell. Biol. 20: 2158-2166, 2000.
[0020747]11335.Cases, S.; Stone, S. J.; Zhou, P.; Yen, E.; Tow, B.; Lardizabal, K. D.; Voelker, T.; Farese, R. V., Jr.: Cloning of DGAT2, a second mammalian diacylglycerol acyltransferase, and related family members. J. Biol. Chem. 276: 38870-38876, 2001.
[0020748]11336.Chen, C.-K.; Zhang, K.; Church-Kopish, J.; Huang, W.; Zhang, H.; Chen, Y.-J.; Frederick, J. M.; Baehr, W.: Characterization of human GRK7 as a potential cone opsin kinase. Molec. Vision 7: 305-313, 2001.
[0020749]11337.Weiss, E. R.; Ducceschi, M. H.; Horner, T. J.; Li, A.; Craft, C. M.; Osawa, S.: Speciesspecific differences in expression of G-protein-coupled receptor kinase (GRK) 7 and GRK1 in mammalian cone photoreceptor cells: implications for cone cell phototransduction. J. Neurosci. 21: 9175-9184, 2001.
[0020750]11338.Borregaard, N.; Cowland, J. B.: Granules of the human neutrophilic polymorphonuclear leukocyte. Blood 89: 3503-3521, 1997.
[0020751]11339.Chang, K. S.; Schroeder, W.; Siciliano, M. J.; Thompson, L. H.; McCredie, K.; Beran, M.; Freireich, E. J.; Liang, J. C.; Trujillo, J. M.; Stass, S. A.: The localization of the human myeloperoxidase gene is in close proximity to the translocation breakpoint in acute promyelocytic leukemia. Leukemia 1: 458-462, 1987.
[0020752]11340.DeLeo, F. R.; Goedken, M.; McCormick, S. J.; Nauseef, W. M.: A novel form of hereditary myeloperoxidase deficiency linked to endoplasmic reticulum/proteasome degradation. J. Clin. Invest. 101: 2900-2909, 1998.
[0020753]11341.Eiserich, J. P.; Baldus, S.; Brennan, M.-L.; Ma, W.; Zhang, C.; Tousson, A.; Castro, L.; Lusis, A. J.; Nauseef, W. M.; White, C. R.; Freeman, B. A.: Myeloperoxidase, a leukocyte-derived vascular NO oxidase. Science 296: 2391-2394, 2002.
[0020754]11342.Inazawa, J.; Inoue, K.; Nishigaki, H.; Tsuda, S.; Taniwaki, M.; Misawa, S.; Abe, T.: Assignment of the human myeloperoxidase gene (MPO) to bands q21.3-q23 of chromosome 17. Cytogenet. Cell Genet. 50: 135-136, 1989.
[0020755]11343.Johnson, K.; Gemperlein, I.; Hudson, S.; Shane, S.; Rovera, G. : Complete nucleotide sequence of the human myeloperoxidase gene. Nucleic Acids Res. 17: 7985-7986, 1989.
[0020756]11344.Kizaki, M.; Miller, C. W.; Selsted, M. E.; Koeffler, H. P.: Myeloperoxidase (MPO) gene mutation in hereditary MPO deficiency. Blood 83: 1935-1940, 1994.
[0020757]11345.Klebanoff, S. J.: Myeloperoxidase. Proc. Assoc. Am. Physicians 111: 383-389, 1999.
[0020758]11346.Kudoh, J.; Minoshima, S.; Hashinaka, K.; Nishio, C.; Yamada, M.; Shimizu, Y.; Shimizu, N.: Assignment of the myeloperoxidase gene MPO to human chromosome 17 using somatic cell hybrids and flow-sorted chromosomes. Jpn. J. Hum. Genet. 33: 315-324, 1988.
[0020759]11347.Kudoh, J.; Minoshima, S.; Hashinaka, K.; Nishio, C.; Yamada, M.; Shimizu, Y.; Shimizu, N.: Assignment of the myeloperoxidase (MPO) gene to human chromosome 17. (Abstract) Cytogenet. Cell Genet. 46: 641-642, 1987.
[0020760]11348.Law, D. J.; Prasad, M. A.; King, S. E.; Spranger, K. D.; Lee, Y. H.; Fox, R. E.; Collins, E. E.; Gebuhr, T. C.; Miller, D. E.; Petty, E. M.: Localization of the human estrogen-responsive finger protein (EFP) gene (ZNF147) within a YAC contig containing the myeloperoxidase (MPO) gene. Genomics 28: 361-363, 1995.
[0020761]11349.Williams, M.; Lyu, M.-S.; Yang, Y.-L.; Lin, E. P.; Dunbrack, R.; Birren, B.; Cunningham, J.; Hunter, K.: Ier5, a novel member of the slow-kinetics immediate-early genes. Genomics 55: 327-334, 1999.
[0020762]11350.Kiss, H.; Yang, Y.; Kiss, C.; Andersson, K.; Klein, G.; Imreh, S.; Dumanski, J. P.: The transcriptional map of the common eliminated region 1 (C3CER1) in 3p21.3. Europ. J. Hum. Genet. 10: 52-61, 2002.
[0020763]11351.Arce, I.; Roda-Navarro, P.; Montoya, M. C.; Hernanz-Falcon, P.; Puig-Kroger, A.; Fernandez-Ruiz, E.: Molecular and genomic characterization of human DLEC, a novel member of the Ctype lectin receptor gene family preferentially expressed on monocyte-derived dendritic cells. Europ. J. Immun. 31: 2733-2740, 2001.
[0020764]11352.Dzionek, A.; Sohma, Y.; Nagafune, J.; Cella, M.; Colonna, M.; Facchetti, F.; Gunther, G.; Johnston, I.; Lanzavecchia, A.; Nagasaka, T.; Okada, T.; Vermi, W.; Winkels, G.; Yamamoto, T.; Zysk, M.; Yamaguchi, Y.; Schmitz, J.: BDCA-2, a novel plasmacytoid dendritic cell-specific type II Ctype lectin, mediates antigen capture and is a potent inhibitor of interferon alpha/beta induction. J. Exp. Med. 194: 1823-1834, 2001.
[0020765]11353.Antonarakis, S. E.: Personal Communication. Baltimore, Md. 3/25/2002.
[0020766]11354.McKemy, D. D.; Neuhausser, W. M.; Julius, D.: Identification of a cold receptor reveals a general role for TRP channels in thermosensation. Nature 416: 52-58, 2002.
[0020767]11355.Peier, A. M.; Moqrich, A.; Hergarden, A. C.; Reeve, A. J.; Andersson, D. A.; Story, G. M.; Earley, T. J.; Dragoni, I.; McIntyre, P.; Bevan, S.; Patapoutian, A.: A TRP channel that senses cold stimuli and menthol. Cell 108: 705-715, 2002.
[0020768]11356.Feng, B.-J.; Huang, W.; Shugart, Y. Y.; Lee, M. K.; Zhang, F.; Xia, J.-C.; Wang, H.-Y.; Huang, T.-B.; Jian, S.-W.; Huang, P.; Feng, Q.-S.; Huang, L.-X.; and 18 others: Genome-wide scan for familial nasopharyngeal carcinoma reveals evidence of linkage to chromosome 4. Nature Genet. 31: 395-399, 2002.
[0020769]11357.Ooi, E. E.; Ren, E. C.; Chan, S. H.: Association between microsatellites within the human MHC and nasopharyngeal carcinoma. Int. J. Cancer 74: 229-232, 1997.
[0020770]11358.Roginski, R. S.; Mohan Raj, B. K.; Finkernagel, S. W.; Sciorra, L. J.: Assignment of an ionotropic glutamate receptor-like gene (GRINL1A) to human chromosome 15q22.1 by in situ hybridization. Cytogenet. Cell Genet. 93: 143-144, 2001.
[0020771]11359.Wydner, K. S.; Mohan Raj, B. K.; Sciorra, L. J.; Roginski, R. S. : The mouse orthologue of the human ionotropic glutamate receptor-like gene (GRINL1A) maps to mouse chromosome 9. Cytogenet. Cell Genet. 95: 240-241, 2001.
[0020772]11360.Vuoristo, J. T.; Berrettini, W. H.; Ala-Kokko, L.: C18orf2, a novel, highly conserved intronless gene within intron 5 of the GNAL gene on chromosome 18p11. Cytogenet. Cell Genet. 93: 19-22, 2001.
[0020773]11361.Akiyama, H.; Hiraki, Y.; Noda, M.; Shigeno, C.; Ito, H.; Nakamura, T.: Molecular cloning and biological activity of a novel Ha-Ras suppressor gene predominantly expressed in skeletal muscle, heart, brain, and bone marrow by differential display using clonal mouse EC cells, ATDC5. J. Biol. Chem. 274: 32192-32197, 1999.
[0020774]11362.Ito, H.; Akiyama, H.; Shigeno, C.; Nakamura, T.: Isolation, characterization, and chromosome mapping of a human A-C1 Ha-Ras suppressor gene (HRASLS). Cytogenet. Cell Genet. 93: 36-39, 2001.
[0020775]11363.Nakamura, T.; Yamazaki, Y.; Saiki, Y.; Moriyama, M.; Largaespada, D. A.; Jenkins, N. A.; Copeland, N. G.: Evi9 encodes a novel zinc finger protein that physically interacts with BCL6, a known human B-cell proto-oncogene product. Molec. Cell Biol. 20: 3178-3186, 2000.
[0020776]11364.Saiki, Y.; Yamazaki, Y.; Yoshida, M.; Katoh, O.; Nakamura, T.: Human EVI9, a homologue of the mouse myeloid leukemia gene, is expressed in the hematopoietic progenitors and down-regulated during myeloid differentiation of HL60 cells. Genomics 70: 387-391, 2000.
[0020777]11365.Satterwhite, E.; Sonoki, T.; Willis, T. G.; Harder, L.; Nowak, R.; Arriola, E. L.; Liu, H.; Price, H. P.; Gesk, S.; Steinemann, D.; Schlegelberger, B.; Oscier, D. G.; Siebert, R.; Tucker, P. W.; Dyer, M. J. S.: The BCL11 gene family: involvement of BCL11A in lymphoid malignancies. Blood 98: 3413-3420, 2001.
[0020778]11366.Frohlich, O.; Po, C.; Young, L. G.: Organization of the human gene encoding the epididymis-specific EP2 protein variants and its relationship to defensin genes. Biol. Reprod. 64: 1072-1079, 2001.
[0020779]11367.Hamil, K. G.; Sivashanmugam, P.; Richardson, R. T.; Grossman, G.; Ruben, S. M.; Mohler, J. L.; Petrusz, P.; O'rand, M. G.; French, F. S.; Hall, S. H.: HE2-beta and HE2-gamma, new members of an epididymis-specific family of androgen-regulated proteins in the human. Endocrinology 141: 1245-1253, 2000.
[0020780]11368.Jia, H. P.; Schutte, B. C.; Schudy, A.; Linzmeier, R.; Guthmiller, J. M.; Johnson, G. K.; Tack, B. F.; Mitros, J. P.; Rosenthal, A.; Ganz, T.; McCray, P. B., Jr.: Discovery of new human betadefensins using a genomics-based approach. Gene 263: 211-218, 2001.
[0020781]11369.Li, P.; Chan, H. C.; He, B.; So, S. C.; Chung, Y. W.; Shang, Q.; Zhang, Y.-D.; Zhang, Y.-L.: An antimicrobial peptide gene found in the male reproductive system of rats. Science 291: 1783-1785, 2001.
[0020782]11370.Osterhoff, C.; Kirchhoff, C.; Krull, N.; Ivell, R.: Molecular cloning and characterization of a novel human sperm antigen (HE2) specifically expressed in the proximal epididymis. Biol. Reprod. 50: 516-525, 1994.
[0020783]11371.Xu, L. L.; Shanmugam, N.; Segawa, T.; Sesterhenn, I. A.; McLeod, D. G.; Moul, J. W.; Srivastava, S.: A novel androgen-regulated gene, PMEPA1, located on chromosome 20q13 exhibits high level expression in prostate. Genomics 66: 257-263, 2000.
[0020784]11372.Wice, B. M.; Gordon, J. I.: A tetraspan membrane glycoprotein produced in the human intestinal epithelium and liver that can regulate cell density-dependent proliferation. J. Biol. Chem. 270: 21907-21918, 1995.
[0020785]11373.Kiss, H.; Kedra, D.; Kiss, C.; Kost-Alimova, M.; Yang, Y.; Klein, G.; Imreh, S.; Dumanski, J. P.: The LZTFL1 gene is a part of a transcriptional map covering 250 kb within the common eliminated region 1 (C3CER1) in 3p21.3. Genomics 73: 10-19, 2001.
[0020786]11374.Kingsbury, G. A.; Feeney, L. A.; Nong, Y.; Calandra, S. A.; Murphy, C. J.; Corcoran, J. M.; Wang, Y.; Das, M. R. P.; Busfield, S. J.; Fraser, C. C.; Villeval, J. L.: Cloning, expression, and function of BLAME, a novel member of the CD2 family. J. Immun. 166: 5675-5680, 2001.
[0020787]11375.Quentmeier, H.; Drexler, H. G.; Fleckenstein, D.; Zaborski, M.; Armstrong, A.; Sims, J. E.; Lyman, S. D.: Cloning of human thymic stromal lymphopoietin (TSLP) and signaling mechanisms leading to proliferation. Leukemia 15: 1286-1292, 2001.
[0020788]11376.Soumelis, V.; Reche, P. A.; Kanzler, H.; Yuan, W.; Edward, G.; Homey, B.; Gilliet, M.; Ho, S.; Antonenko, S.; Lauerma, A.; Smith, K.; Gorman, D.; Zurawski, S.; Abrams, J.; Menon, S.; McClanahan, T.; de Waal-Malefyt, R.; Bazan, F.; Kastelein, R. A.; Liu, Y.-J.: Human epithelial cells trigger dendritic cell-mediated allergic inflammation by producing TSLP. Nature Immun. 3: 673-680, 2002.
[0020789]11377.Gubitz, A. K.; Mourelatos, Z.; Abel, L.; Rappsilber, J.; Mann, M.; Dreyfuss, G.: Gemin5, a novel WD repeat protein component of the SMN complex that binds Sm proteins. J. Biol. Chem. 277: 5631-5636, 2002.
[0020790]11378.Guo, D.; Hasham, S.; Kuang, S.-Q.; Vaughan, C. J.; Boerwinkle, E.; Chen, H.; Abuelo, D.; Dietz, H. C.; Basson, C. T.; Shete, S. S.; Milewicz, D. M.: Familial thoracic aortic aneurysms and dissections: genetic heterogeneity with a major locus mapping to 5q13-14. Circulation 103: 2461-2468, 2001.
[0020791]11379.Vaughan, C. J.; Casey, M.; He, J.; Veuglers, M.; Henderson, K.; Guo, D.; Campagna, R.; Roman, M. J.; Milewicz, D. M.; Devereux, R. B.; Basson, C. T.: Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder. Circulation 103: 2469-2475, 2001.
[0020792]11380.Xia, C.; Bao, Z.; Tabassam, F.; Ma, W.; Qiu, M.; Hua, S.; Liu, M.: GCIP, a novel human Grap2 and cyclin D interacting protein, regulates E2F-mediated transcriptional activity. J. Biol. Chem. 275: 20942-20948, 2000.
[0020793]11381.Liu, H.; Sugiura, M.; Nava, V. E.; Edsall, L. C.; Kono, K.; Poulton, S.; Milstien, S.; Kohama, T.; Spiegel, S.: Molecular cloning and functional characterization of a novel mammalian sphingosine kinase type 2 isoform. J. Biol. Chem. 275: 19513-19520, 2000.
[0020794]11382.Ballinger, C. A.; Connell, P.; Wu, Y.; Hu, Z.; Thompson, L. J.; Yin, L.-Y.; Patterson, C.: Identification of CHIP, a novel tetratricopeptide repeat-containing protein that interacts with heat shock proteins and negatively regulates chaperone functions. Molec. Cell. Biol. 19: 4535-4545, 1999.
[0020795]11383.Jiang, J.; Ballinger, C. A.; Wu, Y.; Dai, Q.; Cyr, D. M.; Hohfeld, J.; Patterson, C.: CHIP is a U-box-dependent E3 ubiquitin ligase: identification of Hsc70 as a target for ubiquitylation. J. Biol. Chem. 276: 42938-42944, 2001.
[0020796]11384.Gaide, O.; Martinon, F.; Micheau, O.; Bonnet, D.; Thome, M.; Tschopp, J.: Carma1, a CARD-containing binding partner of Bcl10, induces Bcl10 phosphorylation and NF-kappa-B activation. FEBS Lett. 496: 121-127, 2001.
[0020797]11385.McAllister-Lucas, L. M.; Inohara, N.; Lucas, P. C.; Ruland, J.; Benito, A.; Li, Q.; Chen, S.; Chen, F. F.; Yamaoka, S.; Verma, I. M.; Mak, T. W.; Nunez, G.: Bimp1, a MAGUK family member linking protein kinase C activation to Bcl10-mediated NF-kappa-B induction. J. Biol. Chem. 276: 30589-30597, 2001.
[0020798]11386.Wang, L.; Guo, Y.; Huang, W.-J.; Ke, X.; Poyet, J.-L.; Manji, G. A.; Merriam, S.; Glucksmann, M. A.; DiStefano, P. S.; Alnemri, E. S.; Bertin, J.: CARD10 is a novel caspase recruitment domain/membrane-associated guanylate kinase family member that interacts with BCL10 and activates NF-kappa-B. J. Biol. Chem. 276: 21405-21409, 2001.
[0020799]11387.Gorlich, D.; Mattaj, I. W.: Nucleocytoplasmic transport. Science 271: 1513-1518, 1996.
[0020800]11388.Zhang, X.; Yang, H.; Corydon, M. J.; Zhang, X.; Pedersen, S.; Korenberg, J. R.; Chen, X.-N.; Laporte, J.; Gregersen, N.; Niebuhr, E.; Liu, G.; Bolund, L.: Localization of a human nucleoporin 155 gene (NUP155) to the 5p13 region and cloning of its cDNA. Genomics 57: 144-151, 1999.
[0020801]11389.Lager, D. J.; Qian, Q.; Bengal, R. J.; Ishibashi, M.; Torres, V. E.: The pck rat: a new model that resembles human autosomal dominant polycystic kidney and liver disease. Kidney Int. 59: 126-136, 2001.
[0020802]11390.Sanzen, T.; Harada, K.; Yasoshima, M.; Kawamura, Y.; Ishibashi, M.; Nakanuma, Y.: Polycystic kidney rat is a novel animal model of Caroli's disease associated with congenital hepatic fibrosis. Am. J. Path. 158: 1605-1612, 2001.
[0020803]11391.Ward, C. J.; Hogan, M. C.; Rossetti, S.; Walker, D.; Sneddon, T.; Wang, X.; Kubly, V.; Cunningham, J. M.; Bacallao, R.; Ishibashi, M.; Milliner, D. S.; Torres, V. E.; Harris, P. C.: The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. Nature Genet. 30: 259-269, 2002.
[0020804]11392.Takeuchi, T.; Shuman, M. A.; Craik, C. S.: Reverse biochemistry: use of macromolecular protease inhibitors to dissect complex biological processes and identify a membrane-type serine protease in epithelial cancer and normal tissue. Proc. Nat. Acad. Sci. 96: 11054-11061, 1999.
[0020805]11393.Damiano, J. S.; Stehlik, C.; Pio, F.; Godzik, A.; Reed, J. C.: CLAN, a novel human CED-4-like gene. Genomics 75: 77-83, 2001.
[0020806]11394.Loux, N.; Benlian, P.; Pastier, D.; Boileau, C.; Cambou, J. P.; Monnier, L.; Percheron, C.; Junien, C.: Recurrent mutation at aa 792 in the LDL receptor gene in a French patient. Hum. Genet. 87: 373-375, 1991.
[0020807]11395.Le Beau, M. M.; Lemons, R. S.; Rosner, G. L.; Carrino, J. C.; Reid, M. S.; Chisholm, R. L.; Diaz, M. O.; Weil, S. C.: Chromosomal localization of the gene encoding myeloperoxidase. (Abstract) Cytogenet. Cell Genet. 46: 645, 1987.
[0020808]11396.De Deken, X.; Wang, D.; Many, M.-C.; Costagliola, S.; Libert, F.; Vassart, G.; Dumont, J. E.; Miot, F.: Cloning of two human thyroid cDNAs encoding new members of the NADPH oxidase family. J. Biol. Chem. 275: 23227-23233, 2000.
[0020809]11397.Lacroix, L.; Nocera, M.; Mian, C.; Caillou, B.; Virion, A.; Dupuy, C.; Filetti, S.; Bidart, J. M.; Schlumberger, M.: Expression of nicotinamide adenine dinucleotide phosphate oxidase flavoprotein DUOX genes and proteins in human papillary and follicular thyroid carcinomas. Thyroid 11: 1017-1023, 2001.
[0020810]11398.Dupuy, C.; Ohayon, R.; Valent, A.; Noel-Hudson, M.-S.; Deme, D.; Virion, A.: Purification of a novel flavoprotein involved in the thyroid NADPH oxidase: cloning of the porcine and human cDNAs. J. Biol. Chem. 274: 37265-37269, 1999.
[0020811]11399.Moreno, J. C.; Bikker, H.; Kempers, M. J. E.; van Trotsenburg, A. S. P.; Baas, F.; de Vijlder, J. J. M.; Vulsma, T.; Ris-Stalpers, C.: Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. New Eng. J. Med. 347: 95-102, 2002.
[0020812]11400.Beratis, N. G.; LaBadie, G. U.; Hirschhorn, K.: An isozyme of acid alpha-glucosidase with reduced catalytic activity for glycogen. Am. J. Hum. Genet. 32: 137-149, 1980.
[0020813]11401.D'Ancona, G. G.; Wurm, J.; Croce, C. M.: Genetics of type II glycogenosis: assignment of the human gene for acid alpha-glucosidase to chromosome 17. Proc. Nat. Acad. Sci. 76: 4526-4529, 1979.
[0020814]11402.Dennis, J. A.; Moran, C.; Healy, P. J.: The bovine alpha-glucosidase gene: coding region, genomic structure, and mutations that cause bovine generalized glycogenosis. Mammalian Genome 11: 206-212, 2000.
[0020815]11403.Halley, D. J. J.; Konings, A.; Hupkes, P.; Galjaard, H.: Regional mapping of the human gene for lysosomal alpha-glucosidase by in situ hybridization. Hum. Genet. 67: 326-328, 1984.
[0020816]11404.Hermans, M. M. P.; De Graaff, E.; Kroos, M. A.; Mohkamsing, S.; Eussen, B. J.; Joosse, M.; Willemsen, R.; Kleijer, W. J.; Oostra, B. A.; Reuser, A. J. J.: The effect of a single base pair deletion (delta-T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alphaglucosidase in patients with glycogen storage disease type II. Hum. Molec. Genet. 3: 2213-2218, 1994.
[0020817]11405.Hermans, M. M. P.; de Graaff, E.; Kroos, M. A.; Wisselaar, H. A.; Oostra, B. A.; Reuser, A. J. J.: Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type II. Biochem. Biophys. Res. Commun. 179: 919-926, 1991.
[0020818]11406.Hermans, M. M. P.; Kroos, M. A.; de Graaff, E.; Oostra, B. A.; Reuser, A. J. J.: Two mutations affecting the transport and maturation of lysosomal alpha-glucosidase in an adult case of glycogen storage disease type II. Hum. Mutat. 2: 268-273, 1993.
[0020819]11407.Hoefsloot, L. H.; Hoogeveen-Westerveld, M.; Kroos, M. A.; van Beeumen, J.; Reuser, A. J. J.; Oostra, B. A.: Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex. EMBO J. 7: 1697-1704, 1988.
[0020820]11408.Hoefsloot, L. H.; Hoogeveen-Westerveld, M.; Reuser, A. J. J.; Oostra, B. A.: Characterization of the human lysosomal alpha-glucosidase gene. Biochem. J. 272: 493-497, 1990.
[0020821]11409.Huie, M. L.; Chen, A. S.; Tsujino, S.; Shanske, S.; DiMauro, S.; Engel, A. G.; Hirschhorn, R.: Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T to G) mutation in a majority of patients and a novel IVS10 (+GT to CT) mutation. Hum. Molec. Genet. 3: 2231-2236, 1994.
[0020822]11410.Huie, M. L.; Menaker, M.; McAlpine, P. J.; Hirschhorn, R.: Identification of an E689K substitution as the molecular basis of the human acid alpha-glucosidase type 4 allozyme (GAA*4). Ann. Hum. Genet. 60: 365-368, 1996.
[0020823]11411.Ko, T.-M.; Hwu, W.-L.; Lin, Y.-W.; Tseng, L.-H.; Hwa, H.-L.; Wang, T.-R.; Chuang, S.-M.: Molecular genetic study of Pompe disease in Chinese patients in Taiwan. Hum. Mutat. 13: 380-384, 1999.
[0020824]11412.Okajima, T.; Fukumoto, S.; Miyazaki, H.; Ishida, H.; Kiso, M.; Furukawa, K.; Urano, T.; Furukawa, K.: Molecular cloning of a novel alpha-2,3-sialyltransferase (ST3Gal VI) that sialylates type II lactosamine structures on glycoproteins and glycolipids. J. Biol. Chem. 274: 11479-11486, 1999.
[0020825]11413.Lin, C.-Y.; Shieh, J.-J.: Molecular study on the infantile form of Pompe disease in Chinese in Taiwan. Acta Paediat. Sinica 37: 115-121, 1996.
[0020826]11414.Taniguchi, A.; Kaneta, R.; Morishita, K.; Matsumoto, K.: Gene structure and transcriptional regulation of human Gal beta-1,4(3) GlcNac alpha-2,3-sialyltransferase VI (hST3Gal VI) gene in prostate cancer cell line. Biochem. Biophys. Res. Commun. 287: 1148-1156, 2001.
[0020827]11415.Angata, T.; Kerr, S. C.; Greaves, D. R.; Varki, N. M.; Crocker, P. R.; Varki, A.: Cloning and characterization of human Siglec-11: a recently evolved signaling molecule that can interact with SHP-1 and SHP-2 and is expressed by tissue macrophages, including brain microglia. J. Biol. Chem. 277: 24466-24474, 2002.
[0020828]11416.Geddes, B. J.; Wang, L.; Huang, W.-J.; Lavellee, M.; Manji, G. A.; Brown, M.; Jurman, M.; Cao, J.; Morgenstern, J.; Merriam, S.; Glucksmann, M. A.; DiStefano, P. S.; Bertin, J.: Human CARD12 is a novel CED4/Apaf-1 family member that induces apoptosis. Biochem. Biophys. Res. Commun. 284: 77-82, 2001.
[0020829]11417.Poyet, J.-L.; Srinivasula, S. M.; Tnani, M.; Razmara, M.; Fernandes-Alnemri, T.; Alnemri, E. S.: Identification of Ipaf, a human caspase-1-activating protein related to Apaf-1. J. Biol. Chem. 276: 28309-28313, 2001.
[0020830]11418.Chano, T.; et al; et al: Isolation, characterization and mapping of the mouse and human RB1CC1 genes. Gene (in-press), 2002.
[0020831]11419.Chano, T.; Kontani, K.; Teramoto, K.; Okabe, H.; Ikegawa, S.: Truncating mutations of RB1CC1 in human breast cancers. Nature Genet. 31: 285-288, 2002.
[0020832]11420.Paris, M. J.; Williams, B. R. G.: Characterization of a 500-kb contig spanning the region between c-Ha-Ras and MUC2 on chromosome 11p15.5. Genomics 69: 196-202, 2000.
[0020833]11421.Kim, N.; Takami, M.; Rho, J.; Josien, R.; Choi, Y.: A novel member of the leukocyte receptor complex regulates osteoclast differentiation. J. Exp. Med. 195: 201-209, 2002.
[0020834]11422.Wilkinson, B.; Chen, J. Y.-F.; Han, P.; Rufner, K. M.; Goularte, O. D.; Kaye, J.: TOX: an HMG box protein implicated in the regulation of thymocyte selection. Nature Immun. 3: 272-280, 2002.
[0020835]11423.Kaneko, M.; Kudo, T.; Iwasaki, H.; Ikehara, Y.; Nishihara, S.; Nakagawa, S.; Sasaki, K.; Shiina, T.; Inoko, H.; Saitou, N.; Narimatsu, H.: Alpha-1,3-fucoslytransferase (sic) IX (Fuc-TIX) is very highly conserved between human and mouse; molecular cloning, characterization and tissue distribution of human Fuc-TIX. FEBS Lett. 452: 237-242, 1999.
[0020836]11424.Kaneko, M.; Kudo, T.; Iwasaki, H.; Shiina, T.; Inoko, H.; Kozaki, T.; Saitou, N.; Narimatsu, H.: Assignment of the human alpha-1,3-fucosyltransferase IX gene (FUT9) to chromosome band 6q16 by in situ hybridization. Cytogenet. Cell Genet. 86: 329-330, 1999.
[0020837]11425.Kas, K.; Lemahieum V.; Meyen, E.; Van de Ven, W. J.; Merregaert, J.: Isolation, cDNA, and genomic structure of a conserved gene (NOF) at chromosome 11q13 next to FAU and oriented in the opposite transcriptional orientation. Genomics 34: 433-436, 1996.
[0020838]11426.Lane, J. D; Lucocq, J.; Pryde, J.; Barr, F. A.; Woodman, P. G.; Allan, V. J.; Lowe, M.: Caspase-mediated cleavage of the stacking protein GRASP65 is required for Golgi fragmentation during apoptosis. J. Cell Biol. 156: 495-509, 2002.
[0020839]11427.Sutterlin, C.; Hsu, P.; Mallabiabarrena, A.; Malhotra, V.: Fragmentation and dispersal of the pericentriolar Golgi complex is required for entry into mitosis in mammalian cells. Cell 109: 359-369, 2002.
[0020840]11428.D'Orazi, G.; Cecchinelli, B.; Bruno, T.; Manni, I.; Higashimoto, Y.; Saito, S.; Gostissa, M.; Coen, S.; Marchetti, A.; Del Sal, G.; Piaggio, G.; Fanciulli, M.; Appella, E.; Soddu, S.: Homeodomain-interacting protein kinase-2 phosphorylates p53 at Ser 46 and mediates apoptosis. Nature Cell Biol. 4: 11-19, 2002.
[0020841]11429.Hofmann, T. G.; Mincheva, A.; Lichter, P.; Droge, W.; Schmitz, M. L.: Human homeodomain-interacting protein kinase-2 (HIPK2) is a member of the DYRK family of protein kinases and maps to chromosome 7q32-q34. Biochimie 82: 1123-1127, 2000.
[0020842]11430.Hofmann, T. G.; Moller, A.; Sirma, H.; Zentgraf, H.; Taya, Y.; Droge, W.; Will, H.; Schmitz, M. L.: Regulation of p53 activity by its interaction with homeodomain-interacting protein kinase-2. Nature Cell Biol. 4: 1-10, 2002.
[0020843]11431.Pierantoni, G. M.; Bulfone, A.; Pentimalli, F.; Fedele, M.; Iuliano, R.; Santoro, M.; Chiariotti, L.; Ballabio, A.; Fusco, A.: The homeodomain-interacting protein kinase 2 gene is expressed late in embryogenesis and preferentially in retina, muscle, and neural tissues. Biochem. Biophys. Res. Commun. 290: 942-947, 2002.
[0020844]11432.Wang, Y.; Hofmann, T. G.; Runkel, L.; Haaf, T.; Schaller, H.; Debatin, K.-M.; Hug, H.: Isolation and characterization of cDNAs for the protein kinase HIPK2. Biochim. Biophys. Acta 1518: 168-172, 2001.
[0020845]11433.Arpaia, E.; Dumbrille-Ross, A.; Maler, T.; Neote, K.; Tropak, M.; Troxel, C.; Stirling, J. L.; Pitts, J. S.; Bapat, B.; Lamhonwah, A. M.; Mahuran, D. J.; Schuster, S. M.; Clarke, J. T. R.; Lowden, J. A.; Gravel, R. A.: Identification of an altered splice site in Ashkenazi Tay-Sachs disease. Nature 333: 85-86, 1988.
[0020846]11434.Takeda, K.; Nakai, H.; Hagiwara, H.; Tada, K.; Shows, T. B.; Byers, M. G.; Myerowitz, R.: Fine assignment of beta-hexosaminidase A alpha-subunit on 15q23-q24 by high resolution in situ hybridization. Tohoku J. Exp. Med. 160: 203-211, 1990.
[0020847]11435.Tanaka, A.; Ohno, K.; Sandhoff, K.; Maire, I.; Kolodny, E. H.; Brown, A.; Suzuki, K.: GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene abnormalities in seven patients. Am. J. Hum. Genet. 46: 329-339, 1990.
[0020848]11436.Tanaka, A.; Ohno, K.; Suzuki, K.: GM2-gangliosidosis B1 variant: a wide geographic and ethnic distribution of the specific beta-hexosaminidase alpha chain mutation originally identified in a Puerto Rican patient. Biochem. Biophys. Res. Commun. 156: 1015-1019, 1988.
[0020849]11437.Tanaka, A.; Punnett, H. H.; Suzuki, K.: A new point mutation in the betahexosaminidase alpha subunit gene responsible for infantile Tay-Sachs disease in a non-Jewish Caucasian patient (a Kpn mutant). Am. J. Hum. Genet. 47: 567-574, 1990.
[0020850]11438.Thomas, G. H.; Raghavan, S.; Kolodny, E. H.; Frisch, A.; Neufeld, E. F.; O'Brien, J. S.; Reynolds, L. W.; Miller, C. S.; Shapiro, J.; Kazazian, H. H., Jr.; Heller, R. H.: Nonuniform deficiency of hexosaminidase A in tissues and fluids of two unrelated individuals. Pediat. Res. 16: 232-237, 1982.
[0020851]11439.Thurmon, T. F.: Tay-Sachs genes in Acadians. (Letter) Am. J. Hum. Genet. 53: 781-782, 1993.
[0020852]11440.Croze, E.; Russell-Harde, D.; Wagner, T. C.; Pu, H.; Pfeffer, L. M.; Perez, H. D.: The human type I interferon receptor: identification of the interferon beta-specific receptor-associated phosphoprotein. J. Biol. Chem. 271: 33165-33168, 1996.
[0020853]11441.Croze, E.; Usacheva, A.; Asarnow, D.; Minshall, R.D.; Perez, H.D.; Colamonici, O.: Receptor for activated C-kinase (RACK-1), a WD motif-containing protein, specifically associates with the human type I IFN receptor. J. Immun. 165: 5127-5132, 2000.
[0020854]11442.Domanski, P.; Witte, M.; Kellum, M.; Rubinstein, M.; Hackett, R.; Pitha, P.; Colamonici, O. R.: Cloning and expression of a long form of the beta subunit of the interferon alpha/beta receptor that is required for signaling. J. Biol. Chem. 270: 21606-21611, 1995.
[0020855]11443.Lutfalla, G.; Holland, S. J.; Cinato, E.; Monneron, D.; Reboul, J.; Rogers, N. C.; Smith, J. M.; Stark, G. R.; Gardiner, K.; Mogensen, K. E.; Kerr, I. M.; Uze, G.: Mutant U5A cells are complemented by an interferon-alpha/beta receptor subunit generated by alternative processing of a new member of a cytokine receptor gene cluster. EMBO J. 14: 5100-5108, 1995.
[0020856]11444.Platanias, L. C.; Uddin, S.; Domanski, P.; Colamonici, O. R.: Differences in interferon alpha and beta signaling: interferon beta selectively induces the interaction of the alpha and beta(L) subunits of the type I interferon receptor. J. Biol. Chem. 271: 23630-23633, 1996.
[0020857]11445.Raz, R.; Cheung, K.; Ling, L.; Levy, D. E.: Three distinct loci on human chromosome 21 contribute to interferon-alpha/beta responsiveness. Somat. Cell Molec. Genet. 21: 139-145, 1995.
[0020858]11446.Finch, J. L.; Webb, G. C.; Evdokiou, A; Cowled, P. A.: Chromosomal localization of the human urothelial tetraspan gene, UPK1B, to 3q13.3-q21 and detection of a Taq1 polymorphism. Genomics 40: 501-503, 1997.
[0020859]11447.Yu, J.; Lin, J.-H.; Wu, X.-R.; Sun, T.-T.: Uroplakins Ia and Ib, two major differentiation products of bladder epithelium, belong to a family of four transmembrane domain (4TM) proteins. J. Cell Biol. 125: 171-182, 1994.
[0020860]11448.Colley, W. C.; Altshuller, Y. M.; Sue-Ling, C. K.; Copeland, N. G.; Gilbert, D. J.; Jenkins, N. A.; Branch, K. D.; Tsirka, S. E.; Bollag, R. J.; Bollag, W. B.; Frohman, M. A.: Cloning and expression analysis of murine phospholipase D1. Biochem. J. 326: 745-753, 1997.
[0020861]11449.Schwamborn, K.; Weil, R.; Courtois, G.; Whiteside, S. T.; Israel, A.: Phorbol esters and cytokines regulate the expression of the NEMO-related protein, a molecule involved in a NF-kappa-B-independent pathway. J. Biol. Chem. 275: 22780-22789, 2000.
[0020862]11450.Fischer, G.; Perez-Rodriguez, M.; Arguello, J. R.; Cox, S. T.; McWhinnie, A.; Travers, P. J.; Madrigal, J. A.: Three novel MICB alleles. Tissue Antigens 55: 166-170, 2000.
[0020863]11451.Groh, V.; Bahram, S.; Bauer, S.; Herman, A.; Beauchamp, M.; Spies, T.: Cell stressregulated human major histocompatibility complex class I gene expressed in gastrointestinal epithelium. Proc. Nat. Acad. Sci. 93: 12445-12450, 1996.
[0020864]11452.Nakai, A.; Tanabe, M.; Kawazoe, Y.; Inazawa, J.; Morimoto, R. I.; Nagata, K.: HSF4, a new member of the human heat shock factor family which lacks properties of a transcriptional activator. Molec. Cell. Biol. 17: 469-481, 1997.
[0020865]11453.Uchida, K.; Yoshimura, A.; Inazawa, J.; Yanagisawa, K.; Osada, H.; Masuda, A.; Saito, T.; Takahashi, T.; Miyajima, A.; Takahashi, T.: Molecular cloning of CISH, chromosome assignment to 3p21.3, and analysis of expression in fetal and adult tissues. Cytogenet. Cell Genet. 78: 209-212, 1997.
[0020866]11454.Yoshimura, A.; Ohkubo, T.; Kiguchi, T.; Jenkins, N. A.; Gilbert, D. J.; Copeland, N. G.; Hara, T.; Miyajima, A.: A novel cytokine-inducible gene CIS, encodes an SH2-containing protein that binds to tyrosine-phosphorylated interleukin 3 and erythropoietin receptors. EMBO J. 14: 2816-2826, 1995.
[0020867]11455.Chen, H.; Antonarakis, S. E.: The SH3D1A gene maps to human chromosome 21q22.1-q22.2. Cytogenet. Cell Genet. 78: 213-215, 1997.
[0020868]11456.Pucharcos, C.; Estivill, X.; de la Luna, S.: Intersectin 2, a new multimodular protein involved in clathrin-mediated endocytosis. FEBS Lett. 478: 43-51, 2000.
[0020869]11457.Abbas, N.; Lucking, C. B.; Ricard, S.; Durr, A.; Bonifati, V.; De Michele, G.; Bouley, S.; Vaughan, J. R.; Gasser, T.; Marconi, R.; Broussolle, E.; Brefel-Courbon, C.; and 13 others: A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. Hum. Molec. Genet. 8: 567-574, 1999.
[0020870]11458.Farrer, M.; Chan, P.; Chen, R.; Tan, L.; Lincoln, S.; Hernandez, D.; Forno, L.; Gwinn-Hardy, K.; Petrucelli, L.; Hussey, J.; Singleton, A.; Tanner, C.; Hardy, J.; Langston, J. W.: Lewy bodies and parkinsonism in families with parkin mutations. Ann. Neurol. 50: 293-300, 2001.
[0020871]11459.Hattori, N.; Matsumine, H.; Asakawa, S.; Kitada, T.; Yoshino, H.; Elibol, B.; Brookes, A. J.; Yamamura, Y.; Kobayashi, T.; Wang, M.; Yoritaka, A.; Minoshima, S.; Shimizu, N.; Mizuno, Y.: Point mutations (thr240arg and gln311stop) in the parkin gene. Biochem. Biophys. Res. Commun. 249: 754-758, 1998. Note: Erratum: Biochem. Biophys. Res. Commun. 251: 666 only, 1998.
[0020872]11460.Hedrich, K.; Kann, M.; Lanthaler, A. J.; Dalski, A.; Eskelson, C.; Landt, O.; Schwinger, E.; Vieregge, P.; Lang, A. E.; Breakefield, X. O.; Ozelius, L. J.; Pramstaller, P. P.; Klein, C.: The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism. Hum. Molec. Genet. 10: 1649-1656, 2001.
[0020873]11461.Hedrich, K.; Marder, K.; Harris, J.; Kann, M.; Lynch, T.; Meija-Santana, H.; Pramstaller, P. P.; Schwinger, E.; Bressman, S. B.; Fahn, S.; Klein, C.: Evaluation of 50 probands with early-onset Parkinson's disease for parkin mutations. Neurology 58: 1239-1246, 2002.
[0020874]11462.Huynh, D. P.; Scoles, D. R.; Ho, T. H.; Del Bigio, M. R.; Pulst, S.-M.: Parkin is associated with actin filaments in neuronal and nonneural cells. Ann. Neurol. 48: 737-744, 2000.
[0020875]11463.Imai, Y.; Soda, M.; Inoue, H.; Hattori, N.; Mizuno, Y.; Takahashi, R.: An unfolded putative transmembrane polypeptide, which can lead to endoplasmic reticulum stress, is a substrate of parkin. Cell 105: 891-902, 2001.
[0020876]11464.Jeon, B. S.; Kim, J.-M.; Lee, D.-S.; Hattori, N.; Mizuno, Y.: An apparently sporadic case with parkin gene mutation in a Korean woman. Arch. Neurol. 58: 988-989, 2001.
[0020877]11465.Szepetowski, P.; Simon, M.-P.; Grosgeorge, J.; Huebner, K.; Bastard, C.; Evans, G. A.; Tsujimoto, Y.; Birnbaum, D.; Theillet, C.; Gaudray, P.: Localization of 11q13 loci with respect to regional chromosomal breakpoints. Genomics 12: 738-744, 1992.
[0020878]11466.Wang, T. C.; Cardiff, R. D.; Zukerberg, L.; Lees, E.; Arnold, A.; Schmidt, E. V.: Mammary hyperplasia and carcinoma in MMTV-cyclin D1 transgenic mice. Nature 369: 669-671, 1994.
[0020879]11467.Xiong, Y.; Connelly, T.; Futcher, B.; Beach, D.: Human D-type cyclin. Cell 65: 691-699, 1991.
[0020880]11468.Yu, Q.; Geng, Y.; Sicinski, P.: Specific protection against breast cancers by cyclin D1 ablation. Nature 411: 1017-1021, 2001.
[0020881]11469.Fukumoto, S.; Suzawa, M.; Takeuchi, Y.; Kodama, Y.; Nakayama, K.; Ogata, E.; Matsumoto, T.; Fujita, T.: Absence of mutations in parathyroid hormone (PTH)/PTH-related protein receptor complementary deoxyribonucleic acid in patients with pseudohypoparathyroidism type Ib. J. Clin. Endocr. Metab. 81: 2554-2558, 1996.
[0020882]11470.Zatyka, M.; da Silva, N. F.; Clifford, S. C.; Morris, M. R.; Wiesener, M. S.; Eckardt, K.-U.; Houlston, R. S.; Richards, F. M.; Latif, F.; Maher, E. R.: Identification of cyclin D1 and other novel targets for the von Hippel-Lindau tumor suppressor gene by expression array analysis and investigation of cyclin D1 genotype as a modifier in von Hippel-Lindau disease. Cancer Res. 62: 3803-3811, 2002.
[0020883]11471.Bettoun, J. D.; Minagawa, M.; Kwan, M. Y.; Lee, H. S.; Yasuda, T.; Hendy, G. N.; Goltzman, D.; White, J. H.: Cloning and characterization of the promoter regions of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene: analysis of deoxyribonucleic acid from normal subjects and patients with pseudohypoparathyroidism type 1b. J. Clin. Endocr. Metab. 82: 1031-1040, 1997.
[0020884]11472.Gelbert, L.; Schipani, E.; Juppner, H.; Abou-Samra, A.-B.; Segre, G. V.; Naylor, S.; Drabkin, H.; Heath, H., III: Chromosomal localization of the parathyroid hormone/parathyroid hormonerelated protein receptor gene to human chromosome 3p21.1-p24.2. J. Clin. Endocr. Metab. 79: 1046-1048, 1994.
[0020885]11473.Jobert, A.-S.; Zhang, P.; Couvineau, A.; Bonaventure, J.; Roume, J.; Le Merrer, M.; Silve, C.: Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia. J. Clin. Invest. 102: 34-40, 1998.
[0020886]11474.Fearon, E. R.; Vogelstein, B.: A genetic model for colorectal tumorigenesis. Cell 61: 759-767, 1990.
[0020887]11475.Goldgaber, D.; Goldfarb, L. G.; Brown, P.; Asher, D. M.; Brown, W. T.; Lin, S.; Teener, J. W.; Feinstone, S. M.; Rubenstein, R.; Kascsak, R. J.; Boellaard, J. W.; Gajdusek, D. C.: Mutations in familial Creutzfeldt-Jakob disease and Gerstmann-Straussler-Scheinker's syndrome. Exp. Neurol. 106: 204-206, 1989.
[0020888]11476.Goldhammer, Y.; Gabizon, R.; Meiner, Z.; Sadeh, M.: An Israeli family with Gerstmann-Straussler-Scheinker disease manifesting the codon 102 mutation in the prion protein gene. Neurology 43: 2718-2719, 1993.
[0020889]11477.Griffith, J. S.: Self-replication and scrapie. Nature 215: 1043-1044, 1967.
[0020890]11478.Haltia, M.; Kovanen, J.; Goldfarb, L. G.; Brown, P.; Gajdusek, D. C.: Familial Creutzfeldt-Jakob disease in Finland: epidemiological, clinical, pathological and molecular genetic studies. Europ. J. Epidemiol. 7: 494-500, 1991.
[0020891]11479.Head, M. W.; Tissingh, G.; Uitdehaag, B. M. J.; Barkhof, F.; Bunn, T. J. R.; Ironside, J. W.; Kamphorst, W.; Scheltens, P.: Sporadic Creutzfeldt-Jakob disease in a young Dutch valine homozygote: atypical molecular phenotype. Ann. Neurol. 50: 258-261, 2001.
[0020892]11480.Hegde, R. S.; Mastrianni, J. A.; Scott, M. R.; DeFea, K. A.; Tremblay, P.; Torchia, M.; DeArmond, S. J.; Prusiner, S. B.; Lingappa, V. R. : A transmembrane form of the prion protein in neurodegenerative disease. Science 279: 827-834, 1998.
[0020893]11481.Hegde, R. S.; Tremblay, P.; Groth, D.; DeArmond, S. J.; Prusiner, S. B.; Lingappa, V. R.: Transmissible and genetic prion diseases share a common pathway of neurodegeneration. Nature 402: 732-736, 1999.
[0020894]11482.Horwich, A. L.; Weissman, J. S.: Deadly conformations--protein misfolding in prion disease. Cell 89: 499-510, 1997.
[0020895]11483.Hsiao, K.; Baker, H. F.; Crow, T. J.; Poulter, M.; Owen, F.; Terwilliger, J. D.; Westaway, D.; Ott, J.; Prusiner, S. B.: Linkage of a prion protein missense variant to Gerstmann-Straussler syndrome. Nature 338: 342-345, 1989.
[0020896]11484.Hsiao, K.; Cass, C.; Conneally, P. M.; Dlouhy, S. R.; Hodes, M. E.; Farlow, M. R.; Ghetti, B.; Prusiner, S. B.: Atypical Gerstmann-Straussler-Scheinker syndrome with neurofibrillary tangles: no mutation in the prion protein open-reading-frame in a patient of the Indiana kindred. (Abstract) Neurobiol. Aging 11: 302, 1990.
[0020897]11485.Hsiao, K.; Dlouhy, S. R.; Farlow, M. R.; Cass, C.; Da Costa, M.; Conneally, P. M.; Hodes, M. E.; Ghetti, B.; Prusiner, S. B.: Mutant prion proteins in Gerstmann-Straussler-Scheinker disease with neurofibrillary tangles. Nature Genet. 1: 68-71, 1992.
[0020898]11486.Hsiao, K.; Meiner, Z.; Kahana, E.; Cass, C.; Kahana, I.; Avrahami, D.; Scarlato, G.; Abramsky, O.; Prusiner, S. B.; Gabizon, R.: Mutation of the prion protein in Libyan Jews with Creutzfeldt-Jakob disease. New Eng. J. Med. 324: 1091-1097, 1991.
[0020899]11487.Hsiao, K. K.; Groth, D.; Scott, M.; Yang, S.-L.; Serban, H.; Rapp, D.; Foster, D.; Torchia, M.; DeArmond, S. J.; Prusiner, S. B.: Serial transmission in rodents of neurodegeneration from transgenic mice expressing mutant prion protein. Proc. Nat. Acad. Sci. 91: 9126-9130, 1994.
[0020900]11488.Ironside, J. W.; Sutherland, K.; Bell, J. E.; McCardle, L.; Barrie, C.; Estebeiro, K.; Zeidler, M.; Will, R. G.: A new variant of Creutzfeldt-Jakob disease: neuropathological and clinical features. Cold Spring Harbor Symp. Quant. Biol. 61: 523-530, 1996.
[0020901]11489.Jendroska, K.; Hoffmann, O.; Schelosky, L.; Lees, A. J.; Poewe, W.; Daniel, S. E.: Absence of disease related prion protein in neurodegenerative disorders presenting with Parkinson's syndrome. J. Neurol. Neurosurg. Psychiat. 57: 1249-1251, 1994.
[0020902]11490.Kaneko, K.; Zulianello, L.; Scott, M.; Cooper, C. M.; Wallace, A. C.; James, T. L.; Cohen, F. E.; Prusiner, S. B.: Evidence for protein X binding to a discontinuous epitope on the cellular prion protein during scrapie prion propagation. Proc. Nat. Acad. Sci. 94: 10069-10074, 1997.
[0020903]11491.Kitamoto, T.; Ohta, M.; Doh-ura, K.; Hitoshi, S.; Terao, Y.; Tateishi, J.: Novel missense variants of prion protein in Creutzfeldt-Jakob disease or Gerstmann-Straussler syndrome. Biochem. Biophys. Res. Commun. 191: 709-714, 1993.
[0020904]11492.Kocisko, D. A.; Come, J. H.; Priola, S. A.; Chesebro, B.; Raymond, G. J.; Lansbury, P. T.; Caughey, B.: Cell-free formation of protease-resistant prion protein. Nature 370: 471-474, 1994.
[0020905]11493.Krasemann, S.; Zerr, I.; Weber, T.; Poser, S.; Kretzschmar, H.; Hunsmann, G.; Bodemer, W.: Prion disease associated with a novel nine octapeptide repeat insertion in the PRNP gene. Molec. Brain Res. 34: 173-176, 1995.
[0020906]11494.Kretzschmar, H. A.; Neumann, M.; Stavrou, D.: Codon 178 mutation of the human prion protein gene in a German family (Backer family): sequencing data from 72-year-old celloidinembedded brain tissue. Acta Neuropath. 89: 96-98, 1995.
[0020907]11495.Kretzschmar, H. A.; Stowring, L. E.; Westaway, D.; Stubblebine, W. H.; Prusiner, S. B.; DeArmond, S. J.: Molecular cloning of a human prion protein cDNA. DNA 5: 315-324, 1986.
[0020908]11496.Kuwahara, C.; Takeuchi, A. M.; Nishimura, T.; Haraguchi, K.; Kubosaki, A.; Matsumoto, Y.; Saeki, K.; Matsumoto, Y.; Yokoyama, T.; Itohara, S.; Onodera, T.: Prions prevent neuronal cell-line death. (Letter) Nature 400: 225-226, 1999.
[0020909]11497.Laplanche, J.-L.; El Hachimi, K. H.; Durieux, I.; Thuillet, P.; Defebvre, L.; Delasnerie-Laupretre, N.; Peoc'h, K.; Foncin, J.-F.; Destee, A.: Prominent psychiatric features and early onset in an inherited prion disease with a new insertional mutation in the prion protein gene. Brain 122: 2375-2386, 1999.
[0020910]11498.Laplanche, J. L.; Chatelain, J.; Thomas, S.; Launay, J. M.; Gaultier, C.; Derouesne, C.: Uncommon phenotype for a codon 178 mutation of the human PrP gene. (Letter) Ann. Neurol. 31: 345, 1992.
[0020911]11499.Le, Y.; Yazawa, H.; Gong, W.; Yu, Z.; Ferrans, V. J.; Murphy, P. M.; Wang, J. M.: Cutting edge: the neurotoxic prion peptide fragment PrP(106-126) is a chemotactic agonist for the G protein-coupled receptor formyl peptide receptor-like 1. J. Immun. 166: 1448-1451, 2001.
[0020912]11500.Gibbons, B.; Scott, D.; Hungerford, J. L.; Cheung, K. L.; Harrison, C.; Attard-Montalto, S.; Evans, M.; Birch, J. M.; Kingston, J. E. : Retinoblastoma in association with the chromosome breakage syndromes Fanconi's anaemia and Bloom's syndrome: clinical and cytogenetic findings. Clin. Genet. 47: 311-317, 1995.
[0020913]11501.Girardet, A.; McPeek, M. S.; Leeflang, E. P.; Munier, F.; Arnheim, N.; Claustres, M.; Pellestor, F.: Meiotic segregation analysis of RB1 alleles in retinoblastoma pedigrees by use of singlesperm typing. Am. J. Hum. Genet. 66: 167-175, 2000.
[0020914]11502.Godbout, R.; Dryja, T. P.; Squire, J.; Gallie, B. L.; Phillips, R. A.: Somatic inactivation of genes on chromosome 13 is a common event in retinoblastoma. Nature 304: 451-453, 1983.
[0020915]11503.Goodrich, D. W.; Wang, N. P.; Qian, Y.-W.; Lee, E. Y.-H. P.; Lee, W.-H.: The retinoblastoma gene product regulates progression through the G1 phase of the cell cycle. Cell 67: 293-302, 1991.
[0020916]11504.Grace, E.; Drennan, J.; Colver, D.; Gordon, R. R.: The 13q deletion syndrome. J. Med. Genet. 8: 351-357, 1971.
[0020917]11505.Green, A. R.; Wyke, J. A.: Anti-oncogenes: a subset of regulatory genes involved in carcinogenesis? Lancet II: 475-477, 1985.
[0020918]11506.Greger, V.; Kerst, S.; Messmer, E.; Hopping, W.; Passarge, E.; Horsthemke, B.: Application of linkage analysis to genetic counselling in families with hereditary retinoblastoma. J. Med. Genet. 25: 217-221, 1988.
[0020919]11507.Greger, V.; Passarge, E.; Horsthemke, B.: Somatic mosaicism in a patient with bilateral retinoblastoma. Am. J. Hum. Genet. 46: 1187-1193, 1990.
[0020920]11508.Hagstrom, S. A.; Dryja, T. P.: Mitotic recombination map of 13cen-13q14 derived from an investigation of loss of heterozygosity in retinoblastomas. Proc. Nat. Acad. Sci. 96: 2952-2957, 1999.
[0020921]11509.Hall, J. G.: Personal Communication. Vancouver, British Columbia, Canada 5/29/1993.
[0020922]11510.Hanahan, D.; Weinberg, R. A.: The hallmarks of cancer. Cell 100: 57-70, 2000.
[0020923]11511.Harbour, J. W.: Molecular basis of low-penetrance retinoblastoma. Arch. Ophthal. 119: 1699-1704, 2001.
[0020924]11512.Harbour, J. W.; Lai, S.-L.; Whang-Peng, J.; Gazdar, A. F.; Minna, J. D.; Kaye, F. J.: Abnormalities in structure and expression of the human retinoblastoma gene in SCLC. Science 241: 353-357, 1988.
[0020925]11513.Hensel, C.; Hsieh, C.-L.; Lee, W.-H.; Pam-Lee, E.; Gazdar, A.; Sakaguchi, A. Y.; Naylor, S. L.: Allele loss and lack of expression of the RB-1 locus in small cell lung cancer. (Abstract) Am. J. Hum. Genet. 43: A25, 1988.
[0020926]11514.Henson, J. W.; Schnitker, B. L.; Correa, K. M.; von Diemling, A.; Fassbender, F.; Xu, H.-J.; Benedict, W. F.; Yandell, D. W.; Louis, D. N.: The retinoblastoma gene is involved in malignant progression of astrocytomas. Ann. Neurol. 36: 714-721, 1994.
[0020927]11515.Higgins, M. J.; Hansen, M. F.; Cavenee, W. K.; Lalande, M.: Molecular detection of chromosomal translocations that disrupt the putative retinoblastoma susceptibility locus. Molec. Cell. Biol. 9: 1-5, 1989.
[0020928]11516.Hoegerman, S. F.: Chromosome 13 long arm interstitial deletion may result from maternal inverted insertion. Science 205: 1035-1036, 1979.
[0020929]11517.Hogg, A.; Bia, B.; Onadim, Z.; Cowell, J. K.: Molecular mechanisms of oncogenic mutations in tumours from patients with bilateral and unilateral retinoblastoma. Proc. Nat. Acad. Sci. 90: 7351-7355, 1993.
[0020930]11518.Honavar, S. G.; Shields, C. L.; Shields, J. A.; Demirci, H.; Naduvilath, T. J.: Intraocular surgery after treatment of retinoblastoma. Arch. Ophthal. 119: 1613-1621, 2001.
[0020931]11519.Honavar, S. G.; Singh, A. D.; Shields, C. L.; Meadows, A. T.; Demirci, H.; Cater, J.; Shields, J. A.: Postenucleation adjuvant therapy in high-risk retinoblastoma. Arch. Ophthal. 120: 923-931, 2002.
[0020932]11520.Hong, F. D.; Huang, H.-J. S.; To, H.; Young, L.-J. S.; Oro, A.; Bookstein, R.; Lee, E. Y.-H. P.; Lee, W.-H.: Structure of the human retinoblastoma gene. Proc. Nat. Acad. Sci. 86: 5502-5506, 1989. 100. Horowitz, J. M.; Park, S.-H.; Bogenmann, E.; Cheng, J.-C.; Yandell, D. W.; Kaye, F. J.; Minna, J. D.; Dryja, T. P.; Weinberg, R. A.: Frequent inactivation of the retinoblastoma anti-oncogene is restricted to a subset of human tumor cells. Proc. Nat. Acad. Sci. 87: 2775-2779, 1990. 101. Horowitz, J. M.; Park, S. H.; Yandell, D. W.; Weinberg, R. A. : Involvement of the retinoblastoma gene in the genesis of various human tumors:.In: Kavenee, W.; Hastie, N.; Stanbridge, E.: Recessive Oncogenes and Tumor Suppression: Current Communications in Molecular Biology. Cold Spring Harbor, New York: Cold Spring Harbor Laboratory Press (pub.) 1989. Pp. 101-108. 102. Horsthemke, B.; Greger, V.; Barnert, H. J.; Hopping, W.; Passarge, E.: Detection of submicroscopic deletions and a DNA polymorphism at the retinoblastoma locus. Hum. Genet. 76: 257-261, 1987. 103. Horsthemke, B.; Greger, V.; Becher, R.; Passarge, E.: Mechanism of i(6p) formation in retinoblastoma tumor cells. Cancer Genet. Cytogenet. 37: 95-102, 1989. 104. Hsieh, J.-K.; Chan, F. S. G.; O'Connor, D. J.; Mittnacht, S.; Zhong, S.; Lu, X.: RB regulates the stability and the apoptotic function of p53 via MDM2. Molec. Cell 3: 181-193, 1999. 105. Huang, H.-J. S.; Yee, J.-K.; Shew, J.-Y.; Chen, P.-L.; Bookstein, R.; Friedmann, T.; Lee, E. Y.-H. P.; Lee, W.-H.: Suppression of the neoplastic phenotype by replacement of the RB gene in human cancer cells. Science 242: 1563-1566, 1988. 106. Janson, M.; Nordenskjold, M.: A constitutional mutation within the retinoblastoma gene detected by PFGE. Clin. Genet. 45: 5-10, 1994. 107. Jensen, R. D.; Miller, R. W.: Retinoblastoma: epidemiologic characteristics. New Eng. J. Med. 285: 307-311, 1971. 108. Kimchi, A.; Wang, X.-F.; Weinberg, R. A.; Cheifetz, S.; Massague, J.: Absence of TGF-beta receptors and growth inhibitory responses in retinoblastoma cells. Science 240: 196-199, 1988. 109. Kitchin, F. D.; Ellsworth, R. M.: Pleiotropic effects of the gene for retinoblastoma. J. Med. Genet. 11: 244-246, 1974. 110. Kivela, T.: Trilateral retinoblastoma: a meta-analysis of hereditary retinoblastoma associated with primary ectopic intracranial retinoblastoma. J. Clin. Oncol. 17: 1829-1837, 1999. 111. Kivela, T.; Asko-Seljavaara, S.; Pihkala, U.; Hovi, L.; Heikkonen, J.: Sebaceous carcinoma of the eyelid associated with retinoblastoma. Ophthalmology 108: 1124-1128, 2001. 112. Klutz, M.; Brockmann, D.; Lohmann, D. R.: A parent-of-origin effect in two families with retinoblastoma is associated with a distinct splice mutation in the RB1 gene. Am. J. Hum. Genet. 71: 174-179, 2002. 113. Knight, L. A.; Gardner, H. A.; Gallie, B. L.: Familial retinoblastoma: segregation of chromosome 13 in four families. Am. J. Hum. Genet. 32: 194-201, 1980. 114. Knudson, A. G.: Hereditary cancer, oncogenes and anti-oncogenes. Cancer Res. 45: 1437-1443, 1985. 115. Knudson, A. G., Jr.: Mutation and cancer: statistical study of retinoblastoma. Proc. Nat. Acad. Sci. 68: 820-823, 1971. 116. Knudson, A. G., Jr.: Genetics of human cancer. Annu. Rev. Genet. 20: 231-251, 1986. 117. Knudson, A. G., Jr.; Hethcote, H. W.; Brown, B. W.: Mutation and childhood cancer: a probabilistic model for the incidence of retinoblastoma. Proc. Nat. Acad. Sci. 72: 5116-5120, 1975. 118. Knudson, A. G., Jr.; Meadows, A. T.; Nichols, W. W.; Hill, R. : Chromosomal deletion and retinoblastoma. New Eng. J. Med. 295: 1120-1123, 1976. 119. Laquis, S. J.; Rodriguez-Galindo, C.; Wilson, M. W.; Fleming, J. C.; Haik, B. G.: Retinoblastoma in a patient with an X;13 translocation and facial abnormalities consistent with 13q-syndrome. Am. J. Ophthal. 133: 285-287, 2002. 120. Lee, W.-H.; Bookstein, R.; Hong, F.; Young, L.-J.; Shew, J.-Y.; Lee, E. Y.-H. P.: Human retinoblastoma susceptibility gene: cloning, identification, and sequence. Science 235: 1394-1399, 1987. 121. Lee, W.-H.; Shew, J.-Y.; Hong, F. D.; Sery, T. W.; Donoso, L. A.; Young, L.-J.; Bookstein, R.; Lee, E. Y.-H. P.: The retinoblastoma susceptibility gene encodes a nuclear phosphoprotein associated with DNA binding activity. Nature 329: 642-645, 1987. 122. Lele, K. P.; Penrose, L. S.; Stallard, H. B.: Chromosome deletion in a case of retinoblastoma. Ann. Hum. Genet. 27: 171-174, 1963. 123. Lemieux, N.; Messier, P. E.; Jacob, J. L.; Milot, J.; Richer, C. L.: Precise cytogenetic localization of the Rb locus at subband 13q14.11 by ultrastructural detection after immunochemical chromosome banding. (Abstract) Am. J. Hum. Genet. 45 (suppl.): A27, 1989. 124. Liu, Z.; Song, Y.; Bia, B.; Cowell, J. K.: Germline mutations in the RB1 gene in patients with hereditary retinoblastoma. Genes Chromosomes Cancer 14: 277-284, 1995. 125. Lohmann, D. R.; Brandt, B.; Hopping, W.; Passarge, E.; Horsthemke, B.: Spectrum of small length germline mutations in the RB1 gene. Hum. Molec. Genet. 3: 2187-2193, 1994. 126. Lohmann, D. R.; Brandt, B.; Hopping, W.; Passarge, E.; Horsthemke, B.: The spectrum of RB1 germ-line mutations in hereditary retinoblastoma. Am. J. Hum. Genet. 58: 940-949, 1996. 127. Lohmann, D. R.; Gerick, M.; Brandt, B.; Oelschlager, U.; Lorenz, B.; Passarge, E.; Horsthemke, B.: Constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma. Am. J. Hum. Genet. 61: 282-294, 1997. 128. Lomazzi, M.; Moroni, M. C.; Jensen, M. R.; Frittoli, E.; Helin, K.: Suppression of the p53- or pRBmediated G1 checkpoint is required for E2F-induced S-phase entry. Nature Genet 31: 190-194, 2002. 129. Lueder, G. T.; Judisch, G. F.; Wen, B.-C.: Heritable retinoblastoma and pinealoma. Arch. Ophthal. 109: 1707-1709, 1991. 130. Luo, R. X.; Postigo, A. A.; Dean, D. C.: Rb interacts with histone deacetylase to repress transcription. Cell 92: 463-473, 1998. 131. Maat-Kievit, J. A.; Oepkes, D.; Hartwig, N. G.; Vermeij-Keers, C.; van Kamp, I. L.; van de Kamp, J. J. P.: A large retinoblastoma detected in a fetus at 21 weeks of gestation. Prenatal Diag. 13: 377-384, 1993. 132. MacKay, C. J.; Abramson, D. H.; Ellsworth, R. M.: Metastatic patterns of retinoblastoma. Arch. Ophthal. 102: 391-396, 1984. 133. Macklin, M. T.: A study of retinoblastoma in Ohio. Am. J. Hum. Genet. 12: 1-43, 1960. 134. Macklin, M. T.: Inheritance of retinoblastoma in Ohio. Arch. Ophthal. 62: 842-851, 1959. 135. Manchester, P. T., Jr.: Retinoblastoma among offspring of adult survivors. Arch. Ophthal. 65: 546-549, 1961. 136. Mancini, D.; Singh, S.; Ainsworth, P.; Rodenhiser, D.: Constitutively methylated CpG dinucleotides as mutation hot spots in the retinoblastoma gene (RB1). Am. J. Hum. Genet. 61: 80-87, 1997. 137. Mancini, M. A.; Shan, B.; Nickerson, J. A.; Penman, S.; Lee, W.-H.: The retinoblastoma gene product is a cell cycle-dependent, nuclear matrix-associated protein. Proc. Nat. Acad. Sci. 91: 418-422, 1994. 138. Marino, S.; Vooijs, M.; van der Gulden, H.; Jonker, J.; Berns, A.: Induction of medulloblastomas in p53-null mutant mice by somatic inactivation of Rb in the external granular layer cells of the cerebellum. Gene s Dev. 14: 994-1004, 2000. 139. Matsunaga, E.: Recurrence risks to relatives of patients with retinoblastoma. Jpn. J. Ophthal. 22: 313-319, 1978. 140. Matsunaga, E.: Almost synchronous appearance of bilateral retinoblastomas. (Letter) Am. J. Med. Genet. 11: 485-487, 1982. 141. Matsunaga, E.: Retinoblastoma: mutational mosaicism or host resistance? Am. J. Med. Genet. 8: 375-387, 1981. 142. Matsunaga, E.: Hereditary retinoblastoma: host resistance and second primary tumors. J. Nat. Cancer Inst. 65: 47-51, 1980. 143. Matsunaga, E.: Hereditary retinoblastoma: delayed mutation or host resistance? Am. J. Hum. Genet. 30: 406-425, 1978. 144. Matsunaga, E.; Minoda, K.; Sasaki, M. S.: Parental age and seasonal variation in the births of children with sporadic retinoblastoma: a mutation-epidemiologic study. Hum. Genet. 84: 155-158, 1990. 145. Michalova, K.; Kloucek, F.; Musilova, J.: Deletion of 13q in two patients with retinoblastoma, one probably due to 13q- mosaicism in the mother. Hum. Genet. 61: 264-266, 1982. 146. Moll, A. C.; Imhof, S. M.; Schouten-Van Meeteren, A. Y. N.; Kuik, D. J.; Hofman, P.; Boers, M.: Second primary tumors in hereditary retinoblastoma: a register-based study, 1945-1997. Is there an age effect on radiation-related risk? Ophthalmology 108: 1109-1114, 2001. 147. Motegi, T.: Lymphocyte chromosome survey in 42 patients with retinoblastoma: effort to detect 13q14 deletion mosaicism. Hum. Genet. 58: 168-173, 1981. 148. Motegi, T.: High rate of detection of 13q14 deletion mosaicism among retinoblastoma patients (using more extensive methods). Hum. Genet. 61: 95-97, 1982. 149. Motegi, T.; Kaga, M.; Yanagawa, Y.; Kadowaki, H.; Watanabe, K.; Inoue, A.; Komatsu, M.; Minoda, K.: A recognizable pattern of the midface of retinoblastoma patients with interstitial deletion of 13q. Hum. Genet. 64: 160-162, 1983. 150. Motegi, T.; Komatsu, M.; Minoda, K.: Is the interstitial deletion of 13q in retinoblastoma patients not transmissible? (Letter) Hum. Genet. 64: 205, 1983. 151. Motegi, T.; Komatsu, M.; Nakazato, Y.; Ohuchi, M.; Minoda, K. : Retinoblastoma in a boy with a de novo mutation of a 13/18 translocation: the assumption that the retinoblastoma locus is at 13q141, particularly at the distal portion of it. Hum. Genet. 60: 193-195, 1982. 152. Munier, F.; Spence, M. A.; Pescia, G.; Balmer, A.; Gailloud, C.; Thonney, F.; van Melle, G.; Rutz, H. P.: Paternal selection favoring mutant alleles of the retinoblastoma susceptibility gene. Hum. Genet. 89: 508-512, 1992. 153. Munier, F. L.; Wang, M. X.; Spence, M. A.; Thonney, F.; Balmer, A.; Pescia, G.; Donoso, L. A.; Murphree, A. L.: Pseudo low penetrance in retinoblastoma: fortuitous familial aggregation of sporadic cases caused by independently derived mutations in two large pedigrees. Arch. Ophthal. 111: 1507-1511, 1993. 154. Murphree, A. L.; Benedict, W. F.: Retinoblastoma: clues to human oncogenesis. Science 223: 1028-1033, 1984. 155. Naumova, A.; Hansen, M.; Strong, L.; Jones, P. A.; Hadjistilianou, D.; Mastrangelo, D.; Griegel, S.; Rajewsky, M. F.; Shields, J.; Donoso, L.; Wang, M.; Sapienza, C.: Concordance between parental origin of chromosome 13q loss and chromosome 6p duplication in sporadic retinoblastoma. Am. J. Hum. Genet. 54: 274-281, 1994. 156. Naumova, A.; Sapienza, C.: The genetics of retinoblastoma, revisited. Am. J. Hum. Genet. 54: 264-273, 1994. 157. Nevins, J. R.: The Rb/E2F pathway and cancer. Hum. Molec. Genet. 10: 699-703, 2001. 158. Nichols, W. W.; Miller, R. C.; Sobel, M.; Hoffman, E.; Sparkes, R. S.; Mohandas, T.; Veomett, I.; Davis, J. R.: Further observations on a 13qXp translocation associated with retinoblastoma. Am. J. Ophthal. 89: 621-627, 1980. 159. Nielsen, S. J.; Schneider, R.; Bauer, U.-M.; Bannister, A. J.; Morrison, A.; O'Carroll, D.; Firestein, R.; Cleary, M.; Jenuwein, T.; Herrera, R. E.; Kouzarides, T.: Rb targets histone H3 methylation and HP1 to promoters. Nature 412: 561-565, 2001. 160. Nirankari, M. S.; Gulati, G. C.; Chaddah, M. R.: Retinoblastoma: genetics and report of a family. Am. J. Ophthal. 53: 523-532, 1962. 161. Noorani, H. Z.; Khan, H. N.; Gallie, B. L.; Detsky, A. S.: Cost comparison of molecular versus conventional screening of relatives at risk for retinoblastoma. Am. J. Hum. Genet. 59: 301-307, 1996. 162. Nussbaum, R.; Puck, J.: Recurrence risks for retinoblastoma: a model for autosomal dominant disorders with complex inheritance. J. Pediat. Ophthal. 13: 89-98, 1976. 163. Onadim, Z.; Hogg, A.; Baird, P. N.; Cowell, J. K.: Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype. Proc. Nat. Acad. Sci. 89: 6177-6181, 1992. 164. Onadim, Z.; Woolford, A. J.; Kingston, J. E.; Hungerford, J. L.: The RB1 gene mutation in a child with ectopic intracranial retinoblastoma. Brit. J. Cancer 76: 1405-1409, 1997. 165. Ono, T.; Yoshida, M. C.: Chromosomal assignment of retinoblastoma 1 gene (RB1) to mouse 14D3 and rat 15q12 by fluorescence in situ hybridization. Jpn. J. Genet. 68: 617-621, 1993. 166. Orye, E.; Benoit, Y.; Coppieters, R.; Jeannin, P.; Vercruysse, C.; Delaey, J.; Delbeke, M.-J.: A case of retinoblastoma, associated with histiocytosis-X and mosaicism of a deleted D-group chromosome (13q14-q31). Clin. Genet. 22: 37-39, 1982. 167. Orye, E.; Delbeke, M. J.; Vandenabeele, B.: Retinoblastoma and long arm deletion of chromosome 13. Attempts to define the deleted segment. Clin. Genet. 5: 457-464, 1974. 168. Orye, E.; Delbeke, M. J.; Vandenabeele, B.: Retinoblastoma and Dchromosome deletions. (Letter) Lancet II: 1376, 1971. 169. Otterson, G. A.; Modi, S.; Nguyen, K.; Coxon, A. B.; Kaye, F. J.: Temperature-sensitive RB mutations linked to incomplete penetrance of familial retinoblastoma in 12 families. Am. J. Hum. Genet. 65: 1040-1046, 1999. 170. Otterson, G. W.; Chen, W.; Coxon, A. B.; Khleif, S. N.; Kaye, F. J.: Incomplete penetrance of familial retinoblastoma linked to germ-line mutations that result in partial loss of RB function. Proc. Nat. Acad. Sci. 94: 12036-12040, 1997. 171. Pendergrass, T. W.; Davis, S.: Incidence of retinoblastoma in the United States. Arch. Ophthal. 98: 1204-1210, 1980. 172. Pennaneach, V.; Salles-Passador, I.; Munshi, A.; Brickner, H.; Regazzoni, K.; Dick, F.; Dyson, N.; Chen, T.-T.; Wang, J. Y. J.; Fotedar, R.; Fotedar, A.: The large subunit of replication factor C promotes cell survival after DNA damage in an LxCxE motif- and Rbdependent manner. Molec. Cell 7: 715-727, 2001. 173. Riccardi, V. M.; Hittner, H. M.; Francke, U.; Pippin, S.; Holmquist, G. P.; Kretzer, F. L.; Ferrell, R.: Partial triplication and deletion of 13q: study of a family presenting with bilateral retinoblastomas. Clin. Genet. 15: 332-345, 1979. 174. Rivera, H.; Turleau, C.; de Grouchy, J.; Junien, C.; Despoisse, S.; Zucker, J.-M.: Retinoblastoma-del(13q14): report of two patients, one with a trisomic sib due to maternal insertion; gene-dosage effect for esterase D. Hum. Genet. 59: 211-214, 1981. 175. Sakai, T.; Ohtani, N.; McGee, T. L.; Robbins, P. D.; Dryja, T. P.: Oncogenic germ-line mutations in Sp1 and ATF sites in the human retinoblastoma gene. Nature 353: 83-86, 1991. 176. Sakai, T.; Ohtani, N.; McGee, T. L.; Robbins, P. D.; Dryja, T. P.: Oncogenic germ-line mutations in Sp1 and ATF sites in the human retinoblastoma gene. Nature 353: 83-86, 1991. 177. Sakai, T.; Toguchida, J.; Ohtani, N.; Yandell, D. W.; Rapaport, J. M.; Dryja, T. P.: Allele-specific hypermethylation of the retinoblastoma tumor-suppressor gene. Am. J. Hum. Genet. 48: 880-888, 1991. 178. Schappert-Kimmijser, J.; Hemmes, G. D.; Nijland, R.: The heredity of retinoblastoma. Ophthalmologica 151: 197-213, 1966. 179. Scheffer, H.; te Meerman, G. J.; Kruize, Y. C. M.; van den Berg, A. H. M.; Penninga, D. P.; Tan, K. E. W. P.; der Kinderen, D. J.; Buys, C. H. C. M.: Linkage analysis of families with hereditary retinoblastoma: nonpenetrance of mutation, revealed by combined use of markers within and flanking the RB1 gene. Am. J. Hum. Genet. 45: 252-260, 1989. 180. Schimke, R. N.; Lowman, J.; Cowan, G.: Retinoblastoma and osteogenic sarcoma in sibs. Cancer 34: 2077-2079, 1974. 181. Schubert, E. L.; Strong, L. C.; Hansen, M. F.: A splicing mutation in RB1 in low penetrance retinoblastoma. Hum. Genet. 100: 557-563, 1997. 182. Shields, C. L.; Honavar, S.; Shields, J. A.; Demirci, H.; Meadows, A. T.: Vitrectomy in eyes with unsuspected retinoblastoma. Ophthalmology 107: 2250-2255, 2000. 183. Shiio, Y.; Yamamoto, T.; Yamaguchi, N.: Negative regulation of Rb expression by the p53 gene product. Proc. Nat. Acad. Sci. 89: 5206-5210, 1992. 184. Shroeder, W. T.; Chao, L.-Y.; Dao, D. D.; Strong, L. C.; Pathak, S.; Riccardi, V.; Lewis, W. H.; Saunders, G. F.: Nonrandom loss of maternal chromosome 11 alleles in Wilms tumors. Am. J. Hum. Genet. 40: 413-420, 1987. 185. Sippel, K. C.; Fraioli, R. E.; Smith, G. D.; Schalkoff, M. E.; Sutherland, J.; Gallie, B. L.; Dryja, T. P.: Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling. Am. J. Hum. Genet. 62: 610-619, 1998. 186. Smith, S. M.; Sorsby, A.: Retinoblastoma: some genetic aspects. Ann. Hum. Genet. 23: 50-58, 1958. 187. Sparkes, R. S.: The genetics of retinoblastoma. Biochim. Biophys. Acta 780: 95-118, 1985. 188. Sparkes, R. S.; Muller, H.; Klisak, I.; Abram, J. A.: Retinoblastoma with 13q; chromosomal deletion associated with maternal paracentric inversion of 13q. Science 203: 1027-1029, 1979. 189. Sparkes, R. S.; Murphree, A. L.; Lingua, R. W.; Sparkes, M. C.; Field, L. L.; Funderburk, S. J.; Benedict, W. F.: Gene for hereditary retinoblastoma assigned to human chromosome 13 by linkage to esterase D. Science 219: 971-973, 1983. 190. Sparkes, R. S.; Sparkes, M. C.; Wilson, M. G.; Towner, J. W.; Benedict, W.; Murphree, A. L.; Yunis, J. J.: Regional assignment of genes for human esterase D and retinoblastoma to chromosome band 13q14. Science 208: 1042-1044, 1980. 191. Sparkes, R. S.; Sparkes, M. C.; Wilson, M. G.; Towner, J. W.; Benedict, W.; Murphree, A. L.; Yunis, J. J.: Regional assignment of genes for human esterase D and retinoblastoma to chromosome band 13q14. (Abstract) Cytogenet. Cell Genet. 25: 209, 1979. 192. Squire, J.; Gallie, B. L.; Phillips, R. A.: A detailed analysis of chromosomal changes in heritable and non-heritable retinoblastoma. Hum. Genet. 70: 291-301, 1985. 193. Squire, J.; Phillips, R. A.; Boyce, S.; Godbout, R.; Rogers, B.; Gallie, B. L.: Isochromosome 6p, a unique chromosomal abnormality in retinoblastoma: verification by standard staining techniques, new densitometric methods, and somatic cell hybridization. Hum. Genet. 66: 46-53, 1984. 194. Stallard, H. B.: The conservation treatment of retinoblastoma. Trans. Ophthal. Soc. 82: 473, 1962. 195. Stone, J. C.; Crosby, J. L.; Kozak, C. A.; Schievella, A. R.; Bernards, R.; Nadeau, J. H.: The murine retinoblastoma homolog maps to chromosome 14 near Es-10. Genomics 5: 70-75, 1989. 196. Strong, L. C.; Riccardi, V. M.; Ferrell, R. E.; Sparkes, R. S. : Familial retinoblastoma and chromosome 13 deletion transmitted via an insertional translocation. Science 213: 1501-1503, 1981. 197. Taylor, A. I.: Dq-, Dr and retinoblastoma. Humangenetik 10: 209-217, 1970. 198. Thomas, D. M.; Carty, S. A.; Piscopo, D. M.; Lee, J.-S.; Wang, W.-F.; Forrester, W. C.; Hinds, P. W.: The retinoblastoma protein acts as a transcriptional coactivator required for osteogenic differentiation. Molec. Cell 8: 303-316, 2001. 199. Toguchida, J.; Ishizaki, K.; Sasaki, M. S.; Nakamura, Y.; Ikenaga, M.; Kato, M.; Sugimot, M.; Kotoura, Y.; Yamamuro, T.: Preferential mutation of paternally derived RB gene as the initial event in sporadic osteosarcoma. Nature 338: 156-158, 1989. 200. Toguchida, J.; McGee, T. L.; Paterson, J. C.; Eagle, J. R.; Tucker, S.; Yandell, D. W.; Dryja, T. P.: Complete genomic sequence of the human retinoblastoma susceptibility gene. Genomics 17: 535-543, 1993. 201. Turleau, C.; de Grouchy, J.; Chavin-Colin, F.; Despoisses, S.; Leblanc, A.: Two cases of del(13q)-retinoblastoma and two cases of partial trisomy due to a familial insertion. Ann. Genet. 26: 158-160, 1983. 202. Turleau, C.; de Grouchy, J.; Chavin-Colin, F.; Junien, C.; Seger, J.; Schlienger, P.; Leblanc, A.; Haye, C.: Cytogenetic forms of retinoblastoma: their incidence in a survey of 66 patients. Cancer Genet. Cytogenet. 16: 321-334, 1985. 203. Verma, R. S.; Ramesh, K. H.; Samonte, R. V.; Conte, R. A.: Mapping the homolog of the human Rb1 gene to chromosome 14 of higher primates. Mammalian Genome 7: 591-592, 1996. 204. Vogel, F.: Genetics of retinoblastoma. Modern Trends in Ophthalmology. (pub.) 1968. 205. Vogel, F.: Genetics of retinoblastoma.In: Genetic Counseling. Heidelberg University, Science Library. Trans. by Sabine Kurth. New York: Springer Verlag (pub.) 1969. 206. Vogel, F.: The genetics of retinoblastoma. Hum. Genet. 52: 1-54, 1979. 207. Warburg, M.: Retinoblastoma.In: Goldberg, M. F.: Genetic and Metabolic Eye Disease. Boston: Little, Brown and Co. (pub.) 1974. Pp. 447-461. 208. Weichselbaum, R. R.; Beckett, M.; Diamond, A.: Some retinoblastomas, osteosarcomas, and soft tissue sarcomas may share a common etiology. Proc. Nat. Acad. Sci. 85: 2106-2109, 1988. 209. Weichselbaum, R. R.; Nove, J.; Little, J. B.: Fibroblasts from a D-deletion type retinoblastoma patient are abnormally x-ray sensitive. Nature 266: 726-727, 1977. 210. Weinberg, R. A.: The retinoblastoma protein and cell cycle control. Cell 81: 323-330, 1995. 211. Whyte, P.; Buchkovich, K. J.; Horowitz, J. M.; Friend, S. H.; Raybuck, M.; Weinberg, R. A.; Harlow, E.: Association between an oncogene and an anti-oncogene: the adenovirus E1A proteins bind to the retinoblastoma gene product. Nature 334: 124-129, 1988. 212. Wiggs, J.; Nordenskjold, M.; Yandell, D.; Rapaport, J.; Grondin, V.; Janson, M.; Werelius, B.; Petersen, R.; Craft, A.; Riedel, K.; Liberfarb, R.; Walton, D.; Wilson, W.; Dryja, T. P.: Prediction of the risk of hereditary retinoblastoma, using DNA polymorphisms within the retinoblastoma gene. New Eng. J. Med. 318: 151-157, 1988. 213. Wilson, M. G.; Ebbin, A. J.; Towner, J. W.; Spencer, W. H.: Chromosomal anomalies in patients with retinoblastoma. Clin. Genet. 12: 1-8, 1977. 214. Wilson, M. G.; Melnyk, J.; Towner, J. W. J.: Retinoblastoma and deletion D(14) syndrome. J. Med. Genet. 6: 322-327, 1969. 215. Wilson, M. G.; Towner, J. W.; Fujimoto, A.: Retinoblastoma and D-chromosome deletions. Am. J. Hum. Genet. 25: 57-61, 1973. 216. Windle, J. J.; Albert, D. M.; O'Brien, J. M.; Marcus, D. M.; Disteche, C. M.; Bernards, R.; Mellon, P. L.: Retinoblastoma in transgenic mice. Nature 343: 665-669, 1990. 217. Yandell, D. W.; Campbell, T. A.; Dayton, S. H.; Petersen, R.; Walton, D.; Little, J. B.; McConkie-Rosell, A.; Buckley, E.; Dryja, T.: Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling. New Eng. J. Med. 321: 1689-1695, 1989. 218. Yokota, J.; Akiyama, T.; Fung, Y.-K. T.; Benedict, W. F.; Namba, Y.; Hanaoka, M.; Wada, M.; Terasaki, T.; Shimosato, Y.; Sugimura, T.; Terada, M.: Altered expression of the retinoblastoma (RB) gene in small-cell carcinoma of the lung. Oncogene 3: 471-475, 1988. 219. Zeschnigk, M.; Lohmann, D.; Horsthemke, B.: A PCR test for the detection of hypermethylated alleles at the retinoblastoma locus. J. Med. Genet. 36: 793-794, 1999. 220. Zhang, H. S.; Postigo, A. A.; Dean, D. C.: Active transcriptional repression by the Rb-E2F complex mediates G1 arrest triggered by p16(INK4a), TGF-beta, and contact inhibition. Cell 97: 53-61, 1999. 221. Zhu, X.; Dunn, J. M.; Phillips, R. A.; Goddard, A. D.; Paton, K. E.; Becker, A.; Gallie, B. L.: Preferential germline mutation of the paternal allele in retinoblastoma. Nature 340: 312-313, 1989.
[0020933]11521.Baens, M.; Aerssens, J.; Van Zand, K.; Van den Berghe, H.; Marynen, P.: Isolation and regional assignment of human chromosome 12p cDNAs. Genomics 29: 44-52, 1995.
[0020934]11522.Mao, S.; Neale, G. A. M.; Goorha, R. M.: T-cell oncogene rhombotin-2 interacts with retinoblastoma-binding protein 2. Oncogene 14: 1531-1539, 1997.
[0020935]11523.Benbrook, D.; Lernhardt, E.; Pfahl, M.: A new retinoic acid receptor identified from a hepatocellular carcinoma. (Letter) Nature 333: 669-672, 1988.
[0020936]11524.Brand, N.; Petkovich, M.; Krust, A.; Chambon, P.; de The, H.; Marchio, A.; Tiollais, P.; Dejean, A.: Identification of a second human retinoic acid receptor. (Letter) Nature 332: 850-853, 1988.
[0020937]11525.Dejean, A.; Bougueleret, L.; Grzeschik, K.-H.; Tiollais, P.: Hepatitis B virus DNA integration in a sequence homologous to v-erb-A and steroid receptor genes in a hepatocellular carcinoma. Nature 322: 70-72, 1986.
[0020938]11526.de The, H.; del Mar Vivanco-Ruiz, M.; Tiollais, P.; Stunnenberg, H.; Dejean, A.: Identification of a retinoic acid responsive element in the retinoic acid receptor beta gene. Nature 343: 177-180, 1990.
[0020939]11527.Aruffo, A.; Seed, B.: Molecular cloning of a CD28 cDNA by a high-efficiency COS cell expression system. Proc. Nat. Acad. Sci. 84: 8573-8577, 1987.
[0020940]11528.Lafage-Pochitaloff, M.; Costello, R.; Couez, D.; Simonetti, J.; Mannoni, P.; Mawas, C.; Olive, D.: Human CD28 and CTLA-4 Ig superfamily genes are located on chromosome 2 at bands q33-q34. Immunogenetics 31: 198-201, 1990.
[0020941]11529.Lee, K. P.; Taylor, C.; Petryniak, B.; Turka, L. A.; June, C. H.; Thompson, C. B.: The genomic organization of the CD28 gene: implications for the regulation of CD28 mRNA expression and heterogeneity. J. Immun. 145: 344-352, 1990.
[0020942]11530.Lesslauer, W.; Gmunder, H.; Bohlen, P.: Purification and N-terminal amino acid sequence of the human T90/44 (CD28) antigen. Immunogenetics 27: 388-391, 1988.
[0020943]11531.Okkenhaug, K.; Wu, L.; Garza, K. M.; La Rose, J.; Khoo, W.; Odermatt, B.; Mak, T. W.; Ohashi, P. S.; Rottapel, R.: A point mutation in CD28 distinguishes proliferative signals from survival signals. Nature Immun. 2: 325-332, 2001.
[0020944]11532.Dear, T. N.; Colledge, W. H.; Carlton, M. B. L.; Lavenir, I.; Larson, T.; Smith, A. J. H.; Warren, A. J.; Evans, M. J.; Sofroniew, M. V.; Rabbitts, T. H.: The Hox11 gene is essential for cell survival during spleen development. Development 121: 2909-2915, 1995.
[0020945]11533.Dear, T. N.; Sanchez-Garcia, I.; Rabbitts, T. H.: The HOX11 gene encodes a DNAbinding nuclear transcription factor belonging to a distinct family of homeobox genes. Proc. Nat. Acad. Sci. 90: 4431-4435, 1993.
[0020946]11534.Dube, I. D.; Kamel-Reid, S.; Yuan, C. C.; Lu, M.; Wu, X.; Corpus, G.; Raimondi, S. C.; Crist, W. M.; Carroll, A. J.; Minowada, J.; Baker, J. B.: A novel human homeobox gene lies at the chromosome 10 breakpoint in lymphoid neoplasias with chromosomal translocation t(10;14). Blood 78: 2996-3003, 1991.
[0020947]11535.Hatano, M.; Roberts, C. W. M.; Minden, M.; Crist, W. M.; Korsmeyer, S. J.: Deregulation of a homeobox gene, HOX11, by the t(10;14) in T cell leukemia. Science 253: 79-82, 1991.
[0020948]11536.Kagan, J.; Finan, J.; Letofsky, J.; Besa, E. C.; Nowell, P. C.; Croce, C. M.: Alpha-chain locus of the T-cell antigen receptor is involved in the t(10;14) chromosome translocation of T-cell acute lymphocytic leukemia. Proc. Nat. Acad. Sci. 84: 4543-4546, 1987.
[0020949]11537.Kennedy, M. A.; Gonzalez-Sarmiento, R.; Kees, U. R.; Lampert, F.; Dear, N.; Boehm, T.; Rabbitts, T. H.: HOX11, a homeobox-containing T-cell oncogene on human chromosome 10q24. Proc. Nat. Acad. Sci. 88: 8900-8904, 1991.
[0020950]11538.Lu, M.; Gong, Z. Y.; Shen, W. F.; Ho, A. D.: The TCL-3 proto-oncogene altered by chromosomal translocation in T-cell leukemia codes for a homeobox protein. EMBO J. 10: 2905-2910, 1991.
[0020951]11539.Roberts, C. W. M.; Shutter, J. R.; Korsmeyer, S. J.: Hox11 controls the genesis of the spleen. Nature 368: 747-750, 1994.
[0020952]11540.Zutter, M.; Hockett, R. D.; Roberts, C. W. M.; McGuire, E. A.; Bloomstone, J.; Morton, C. C.; Deaven, L. L.; Crist, W. M.; Carroll, A. J.; Korsmeyer, S. J.: The t(10;14)(q24;q11) of T-cell acute lymphoblastic leukemia juxtaposes the delta T-cell receptor with TCL3, a conserved and activated locus at 10q24. Proc. Nat. Acad. Sci. 87: 3161-3165, 1990.
[0020953]11541.Alarcon, B.; Regueiro, J. R.; Arnaiz-Villena, A.; Terhorst, C. : Familial defect in the surface expression of the T-cell receptor-CD3 complex. New Eng. J. Med. 319: 1203-1208, 1988.
[0020954]11542.Caplan, S.; Zeliger, S.; Wang, L.; Baniyash, M.: Cell-surface-expressed T-cell antigenreceptor epsilon chain is associated with the cytoskeleton. Proc. Nat. Acad. Sci. 92: 4768-4772, 1995.
[0020955]11543.Clevers, H.; Alarcon, B.; Wileman, T.; Terhorst, C.: The T cell receptor/CD3 complex: a dynamic protein ensemble. Annu. Rev. Immun. 6: 629-662, 1988.
[0020956]11544.Grakoui, A.; Bromley, S. K.; Sumen, C.; Davis, M. M.; Shaw, A. S.; Allen, P. M.; Dustin, M. L.: The immunological synapse: a molecular machine controlling T cell activation. Science 285: 221-227, 1999.
[0020957]11545.Krummel, M. F.; Sjaastad, M. D.; Wulfing, C.; Davis, M. M.: Differential clustering of CD4 and CD3-zeta during T cell recognition. Science 289: 1349-1352, 2000.
[0020958]11546.Weissman, A. M.; Baniyash, M.; Hou, D.; Samelson, L. E.; Burgess, W. H.; Klausner, R. D.: Molecular cloning of the zeta chain of the T cell antigen receptor. Science 239: 1018-1021, 1988.
[0020959]11547.Weissman, A. M.; Hou, D.; Orloff, D. G.; Modi, W. S.; Seuanez, H.; O'Brien, S. J.; Klausner, R. D.: Molecular cloning and chromosomal localization of the human T-cell receptor zeta chain: distinction from the molecular CD3 complex. Proc. Nat. Acad. Sci. 85: 9709-9713, 1988.
[0020960]11548.Weissman, A. M.; Samelson, L. E.; Klausner, R. D.: A new subunit of the human Tcell antigen receptor complex. Nature 324: 480-482, 1986.
[0020961]11549.Yu, C. Y.; Milstein, C.: A physical map linking the five CD1 human thymocyte differentiation antigen genes. EMBO J. 8: 3727-3732, 1989.
[0020962]11550.Zeng, Z.-H.; Castano, A. R.; Segelke, B. W.; Stura, E. A.; Peterson, P. A.; Wilson, I. A.: Crystal structure of mouse CD1: an MHC-like fold with a large hydrophobic binding groove. Science 277: 339-345, 1997.
[0020963]11551.Demczuk, S.; Aledo, R.; Zucman, J.; Delattre, O.; Desmaze, C.; Dauphinot, L.; Jalbert, P.; Rouleau, G. A.; Thomas, G.; Aurias, A. : Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity. Hum. Molec. Genet. 4: 551-558, 1995.
[0020964]11552.Moretti, P. A. B.; Davidson, A. J.; Baker, E.; Lilley, B.; Zon, L. I.; D'Andrea, R. J.: Molecular cloning of a human Vent-like homeobox gene. Genomics 76: 21-29, 2001.
[0020965]11553.Kim, Y. J.; Kim, K.-S.; Do, S.; Kim, C.-H.; Kim, S.-K.; Lee, Y.-C. : Molecular cloning and expression of human alpha-2,8-sialyltransferase (hST8Sia V). Biochem. Biophys. Res. Commun. 235: 327-330, 1997.
[0020966]11554.Jaju, R. J.; Haas, O. A.; Neat, M.; Harbott, J.; Saha, V.; Boultwood, J.; Brown, J. M.; Pirc-Danoewinata, H.; Krings, B. W.; Muller, U.; Morris, S. W.; Wainscoat, J. S.; Kearney, L.: A new recurrent translocation, t(5;11)(q35p15.5), associated with del(5q) in childhood acute myeloid leukemia. Blood 94: 773-780, 1999.
[0020967]11555.Kurotaki, N.; Harada, N.; Yoshiura, K.; Sugano, S.; Niikawa, N.; Matsumoto, N.: Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene. Gene 279: 197-204, 2001.
[0020968]11556.Wang, X.; Yeh, S.; Wu, G.; Hsu, C.-L.; Wang, L.; Chiang, T.; Yang, Y.; Guo, Y.; Chang, C.: Identification and characterization of a novel androgen receptor coregulator ARA267-alpha in prostate cancer cells. J. Biol. Chem. 276: 40417-40423, 2001.
[0020969]11557.Lane, P. W.; Green, E. L.: Pale ear and light ear in the house mouse: mimic mutations in linkage groups XII and XVII. J. Hered. 58: 17-20, 1967.
[0020970]11558.Riewald, M.; Petrovan, R. J.; Donner, A.; Mueller, B. M.; Ruf, W.: Activation of endothelial cell protease activated receptor 1 by the protein C pathway. Science 296: 1880-1882, 2002.
[0020971]11559.Park, B.-S.; Park, J.-S.; Lee, D. Y.; Youn, J. I.; Kim, I. G. : Vitamin D receptor polymorphism is associated with psoriasis. J. Invest. Derm. 112: 113-116, 1999.
[0020972]11560.Jankowski, S. A.; De Jong, P.; Meltzer, P. S.: Genomic structure of SAS, a member of the transmembrane 4 superfamily amplified in human sarcomas. Genomics 25: 501-506, 1995.
[0020973]11561.Meltzer, P. S.; Jankowski, S. A.; Dal Cin, P.; Sandberg, A. A.; Paz, I. B.; Coccia, M. A.; Smith, S. H.: Identification and cloning of a novel amplified DNA sequence in human malignant fibrous histiocytoma derived from a region of chromosome 12 frequently rearranged in soft tissue tumors. (Abstract) Cytogenet. Cell Genet. 58: 1979 only, 1991.
[0020974]11562.Wolfe, L. C.; John, K. M.; Falcone, J. C.; Byrne, A. M.; Lux, S. E.: A genetic defect in the binding of protein 4.1 to spectrin in a kindred with hereditary spherocytosis. New Eng. J. Med. 307: 1367-1374, 1982.
[0020975]11563.Shao, X.; Tarnasky, H. A.; Schalles, U.; Oko, R.; van der Hoorn, F. A.: Interactional cloning of the 84-kDa major outer dense fiber protein Odf84: leucine zippers mediate associations of Odf84 and Odf27. J. Biol. Chem. 272: 6105-6113, 1997.
[0020976]11564.Shao, X.; van der Hoorn, F. A.: Self-interaction of the major 27-kilodalton outer dense fiber protein is in part mediated by a leucine zipper domain in the rat. Biol. Reprod. 55: 1343-1350, 1996.
[0020977]11565.van der Hoorn, F. A.; Tarnasky, H. A.; Nordeen, S. K.: A new rat gene RT7 is specifically expressed during spermatogenesis. Dev. Biol. 142: 147-154, 1990.
[0020978]11566.Ammer, H.; Henschen, A.; Lee, C.-H.: Isolation and amino-acid sequence analysis of human sperm protamines P1 and P2: occurrence of two forms of protamine P2. Biol. Chem. Hoppe-Seyler 367: 515-522, 1986.
[0020979]11567.Cho, C.; Willis, W. D.; Goulding, E. H.; Jung-Ha, H.; Choi, Y.-C.; Hecht, N. B.; Eddy, E. M.: Haploinsufficiency of protamine-1 or -2 causes infertility in mice. Nature Genet. 28: 82-86, 2001.
[0020980]11568.Choudhary, S. K.; Wykes, S. M.; Kramer, J. A; Mohamed, A. N.; Koppitch, F.; Nelson, J. E.; Krawetz, S. A.: A haploid expressed gene cluster exists as a single chromatin domain in human sperm. J. Biol. Chem. 270: 8755-8762, 1995.
[0020981]11569.Domenjoud, L.; Nussbaum, G.; Adham, I. M.; Greeske, G.; Engel, W.: Genomic sequences of human protamines whose genes, PRM1 and PRM2, are clustered. Genomics 8: 127-133, 1990.
[0020982]11570.Engel, W.: Personal Communication. Goettingen, Germany 5/17/1990.
[0020983]11571.Hecht, N. B.; Kleene, K. C.; Yelick, P. C.; Johnson, P. A.; Pravtcheva, D. D.; Ruddle, F. H.: Mapping of haploid expressed genes: genes for both mouse protamines are located on chromosome 16. Somat. Cell Molec. Genet. 12: 203-208, 1986.
[0020984]11572.Krawetz, S. A.; Herfort, M. H.; Hamerton, J. L.; Pon, R. T.; Dixon, G. H.: Chromosomal localization and structure of the human P1 protamine gene. Genomics 5: 639-645, 1989.
[0020985]11573.Reeves, R. H.; Gallahan, D.; O'Hara, B. F.; Callahan, R.; Gearhart, J. D.: Genetic mapping of Prm-1, Igl-1, Smst, Mtv-6, Sod-1, and Ets-2 and localization of the Down syndrome region on mouse chromosome 16. Cytogenet. Cell Genet. 44: 76-81, 1987.
[0020986]11574.Reeves, R. H.; Gearhart, J. D.; Hecht, N. B.; Yelick, P.; Johnson, P.; O'Brien, S. J.: The gene encoding protamine 1 is located on chromosome 16 in humans and near the proximal end of mouse chromosome 16, where it is tightly linked to protamine 2. (Abstract) Cytogenet. Cell Genet. 46: 680 only, 1987.
[0020987]11575.Reeves, R. H.; Gearhart, J. D.; Hecht, N. B.; Yelick, P.; Johnson, P.; O'Brien, S. J.: The gene encoding protamine 1 is located on human chromosome 16, and near the proximal end of mouse chromosome 16 where it is tightly linked to the gene encoding protamine 2. J. Hered. 80: 442-446, 1989.
[0020988]11576.Viguie, F.; Domenjoud, L.; Rousseau-Merck, M.-F.; Dadoune, J.-P.; Chevaillier, P.: Chromosomal localization of the human protamine genes, PRM1 and PRM2, to 16p13.3 by in situ hybridization. Hum. Genet. 85: 171-174, 1990.
[0020989]11577.Lee, H. S.; Sambuughin, N.; Cervenakova, L.; Chapman, J.; Pocchiari, M.; Litvak, S.; Qi, H. Y.; Budka, H.; del Ser, T.; Furukawa, H.; Brown, P.; Gajdusek, D. C.; Long, J. C.; Korczyn, A. D.; Goldfarb, L. G. : Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease. Am. J. Hum. Genet. 64: 1063-1070, 1999.
[0020990]11578.de The, H.; Marchio, A.; Tiollais, P.; Dejean, A.: A novel steroid thyroid hormone receptor-related gene inappropriately expressed in human hepatocellular carcinoma. Nature 330: 667-670, 1987.
[0020991]11579.Clevers, H. C.; Dunlap, S.; Wileman, T. E.; Terhorst, C.: Human CD3-epsilon gene contains three miniexons and is transcribed from a non-TATA promoter. Proc. Nat. Acad. Sci. 85: 8156-8160, 1988.
[0020992]11580.DeJarnette, J. B.; Sommers, C. L.; Huang, K.; Woodside, K. J.; Emmons, R.; Katz, K.; Shores, E. W.; Love, P. E.: Specific requirement for CD3-epsilon in T cell development. Proc. Nat. Acad. Sci. 95: 14909-14914, 1998.
[0020993]11581.Gold, D. P.; Puck, J. M.; Pettey, C. L.; Cho, M.; Coligan, J.; Woody, J. N.; Terhorst, C.: Isolation of cDNA clones encoding the 20K non-glycosylated polypeptide chain of the human T-cell receptor/T3 complex. Nature 321: 431-434, 1986.
[0020994]11582.Le Deist, F.; Thoenes, G.; Corado, J.; Lisowska-Grospierre, B.; Fischer, A.: Immunodeficiency with low expression of the T cell receptor/CD3 complex: effect on T lymphocyte activation. Europ. J. Immun. 21: 1641-1647, 1991.
[0020995]11583.Soudais, C.; de Villartay, J.-P.; Le Deist, F.; Fischer, A.; Lisowska-Grospierre, B.: Independent mutations of the human CD3-epsilon gene resulting in a T cell receptor/CD3 complex immunodeficiency. Nature Genet. 3: 77-81, 1993.
[0020996]11584.Thoenes, G.; Soudais, C.; Le Deist, F.; Griscelli, C.; Fischer, A.; Lisowska-Grospierre, B.: Structural analysis of low TCR-CD3 complex expression in T cells of an immunodeficient patient. J. Biol. Chem. 267: 487-493, 1992.
[0020997]11585.Wong, S.; Moore, S.; Orisio, S.; Millward, A.; Demaine, A. G.: Susceptibility to type I diabetes in women is associated with the CD3 epsilon locus on chromosome 11. Clin. Exp. Immun. 83: 69-73, 1991.
[0020998]11586.Andria, M. L.; Hsieh, C. L.; Oren, R.; Francke, U.; Levy, S.: Genomic organization and chromosomal localization of the TAPA-1 gene. J. Immun. 147: 1030-1036, 1991.
[0020999]11587.Boismenu, R.; Rhein, M.; Fischer, W. H.; Havran, W. L.: A role for CD81 in early T cell development. Science 271: 198-200, 1996.
[0021000]11588.Crotta, S.; Stilla, A.; Wack, A.; D'Andrea, A.; Nuti, S.; D'Oro, U.; Mosca, M.; Filliponi, F.; Brunetto, R. M.; Bonino, F.; Abrignani, S.; Valiante, N. M.: Inhibition of natural killer cells through engagement of CD81 by the major hepatitis C virus envelope protein. J. Exp. Med. 195: 35-41, 2002.
[0021001]11589.Oren, R.; Takahashi, S.; Doss, C.; Levy, R.; Levy, S.: TAPA-1, the target of an antiproliferative antibody, defines a new family of transmembrane proteins. Molec. Cell. Biol. 10: 4007-4015, 1990.
[0021002]11590.Pileri, P.; Uematsu, Y.; Campagnoli, S.; Galli, G.; Falugi, F.; Petracca, R.; Weiner, A. J.; Houghton, M.; Rosa, D.; Grandi, G.; Abrignani, S.: Binding of hepatitis C virus to CD81. Science 282: 938-941, 1998.
[0021003]11591.Tseng, C.-T. K.; Klimpel, G. R.: Binding of the hepatitis C virus envelope protein E2 to CD81 inhibits natural killer cell functions. J. Exp. Med. 195: 43-49, 2002.
[0021004]11592.Virtaneva, K. I.; Emi, N.; Marken, J. S.; Aruffo, A.; Jones, C.; Spurr, N. K.; Schroder, J. P.: Chromosomal localization of three human genes coding for A15, L6, and S5.7 (TAPA1): all members of the transmembrane 4 superfamily of proteins. Immunogenetics 39: 329-334, 1994.
[0021005]11593.Patel, A.; Rochelle, J. M.; Jones, J. M.; Sumegi, J.; Uhl, G. R.; Seldin, M. F.; Meisler, M. H.; Gregor, P.: Mapping of the taurine transporter gene to mouse chromosome 6 and to the short arm of human chromosome 3. Genomics 25: 314-317, 1995.
[0021006]11594.Ramamoorthy, S.; Leibach, F. H.; Mahesh, V. B.; Han, H.; Yang-Feng, T.; Blakely, R. D.; Ganapathy, V.: Functional characterization and chromosomal localization of a cloned taurine transporter from human placenta. Biochem. J. 300: 893-900, 1994.
[0021007]11595.Liao, Y.-C. J.; Lebo, J.; Lebo, R. V.; Clawson, G. A.; Smuckler, E. A.: Human prion protein cDNA: molecular cloning, chromosomal mapping, and biological implications. Science 233: 364-367, 1986.
[0021008]11596.Lindquist, S.: Mad cows meet Psi-chotic yeast: the expansion of the prion hypothesis. Cell 89: 495-498, 1997.
[0021009]11597.Little, B. W.; Brown, B. W.; Rodgers-Johnson, P.; Perl, D. P.; Gajdusek, D. C.: Familial myoclonic dementia masquerading as Creutzfeldt-Jakob disease. Ann. Neurol. 20: 231-239, 1986.
[0021010]11598.Lloyd, S. E.; Onwuazor, O. N.; Beck, J. A.; Mallinson, G.; Farrall, M.; Targonski, P.; Collinge, J.; Fisher, E. M. C.: Identification of multiple quantitative trait loci linked to prion disease incubation period in mice. Proc. Nat. Acad. Sci. 98: 6279-6283, 2001.
[0021011]11599.Lugaresi, E.; Medori, R.; Montagna, P.; Baruzzi, A.; Cortelli, P.; Lugaresi, A.; Tinuper, P.; Zucconi, M.; Gambetti, P.: Fatal familial insomnia and dysautonomia with selective degeneration of thalamic nuclei. New Eng. J. Med. 315: 997-1003, 1986.
[0021012]11600.Lugaresi, E.; Montagna, P.; Baruzzi, A.; Cortelli, P.; Tinuper, P.; Zucconi, M.; Gambetti, P. L.; Medori, R.: Insomnie familiale a evolution maligne: une nouvelle maladie thalamique. Rev. Neurol. 142: 791-792, 1986.
[0021013]11601.Mahal, S. P.; Asante, E. A.; Antoniou, M.; Collinge, J.: Isolation and functional characterisation of the promoter region of the human prion protein gene. Gene 268: 105-114, 2001.
[0021014]11602.Mallucci, G. R.; Ratte, S.; Asante, E. A.; Linehan, J.; Gowland, I.; Jefferys, J. G. R.; Collinge, J.: Post-natal knockout of prion protein alters hippocampal CA1 properties, but does not result in neurodegeneration. EMBO J. 21: 202-210, 2002.
[0021015]11603.Mallucci, G. R.; Campbell, T. A.; Dickinson, A.; Beck, J.; Holt, M.; Plant, G.; de Pauw, K. W.; Hakin, R. N.; Clarke, C. E.; Howell, S.; Davies-Jones, G. A. B.; Lawden, M.; Smith, C. M. L.; Ince, P.; Ironside, J. W.; Bridges, L. R.; Dean, A.; Weeks, I.; Collinge, J. : Inherited prion disease with an alanine to valine mutation at codon 117 in the prion protein gene. Brain 122: 1823-1837, 1999.
[0021016]11604.Manetto, V.; Medori, R.; Cortelli, P.; Montagna, P.; Tinuper, P.; Baruzzi, A.; Rancurel, G.; Hauw, J.-J.; Vanderhaeghen, J.-J.; Mailleux, P.; Bugiani, O.; Tagliavini, F.; Bouras, C.; Rizzuto, N.; Lugaresi, E.; Gambetti, P.: Fatal familial insomnia: clinical and pathologic study of 5 new cases. Neurology 42: 312-319, 1992.
[0021017]11605.Manolakou, K.; Beaton, J.; McConnell, I.; Farquar, C.; Manson, J.; Hastie, N. D.; Bruce, M.; Jackson, I. J.: Genetic and environmental factors modify bovine spongiform encephalopathy incubation period in mice. Proc. Nat. Acad. Sci. 98: 7402-7407, 2001.
[0021018]11606.Manson, J. C.; Clarke, A. R.; McBride, P. A.; McConnell, I.; Hope, J.: PrP gene dosage determines the timing but not the final intensity or distribution of lesions in scrapie pathology. Neurodegeneration 3: 331-340, 1994.
[0021019]11607.Mastrianni, J. A.; Capellari, S.; Telling, G. C.; Han, D.; Bosque, P.; Prusiner, S. B.; DeArmond, S. J.: Inherited prion disease caused by the V201I mutation: transmission to transgenic mice. Neurology 57: 2198-2205, 2001.
[0021020]11608.Mastrianni, J. A.; Curtis, M. T.; Oberholtzser, J. C.; Da Costa, M. M.; DeArmond, S.; Prusiner, S. B.; Garbern, J. Y.: Prion disease (PrP-A117V) presenting with ataxia instead of dementia. Neurology 45: 2042-2050, 1995.
[0021021]11609.Mead, S.; Mahal, S. P.; Beck, J.; Campbell, T.; Farrall, M.; Fisher, E.; Collinge, J.: Sporadic--but not variant--Creutzfeldt-Jakob disease is associated with polymorphisms upstream of PRNP exon 1. Am. J. Hum. Genet. 69: 1225-1235, 2001.
[0021022]11610.Medori, R.: Personal Communication. New York, N. Y. 5/17/1990. 100. Medori, R.; Montagna, P.; Tritschler, H. J.; LeBlanc, A.; Cortelli, P.; Tinuper, P.; Lugaresi, E.; Gambetti, P.: Fatal familial insomnia: a second kindred with mutation of prion protein gene at codon 178. Neurology 42: 669-670, 1992. 101. Medori, R.; Tritschler, H.-J.: Prion protein gene analysis in three kindreds with fatal familial insomnia (FFI): codon 178 mutation and codon 129 polymorphism. Am. J. Hum. Genet. 53: 822-827, 1993. 102. Medori, R.; Tritschler, H.-J.; LeBlanc, A.; Villare, F.; Manetto, V.; Chen, H. Y.; Xue, R.; Leal, S.; Montagna, P.; Cortelli, P.; Tinuper, P.; Avoni, P.; Mochi, M.; Baruzzi, A.; Hauw, J. J.; Ott, J.; Lugaresi, E.; Autilio-Gambetti, L.; Gambetti, P.: Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene. New Eng. J. Med. 326: 444-449, 1992. 103. Meggendorfer, F.: Klinische und genealogische Beobachtungen bei einem Fall von spastischer Pseudosklerose Jakobs. Z. Ges. Neurol. Psychiat. 128: 337-341, 1930. 104. Meiner, Z.; Gabizon, R.; Prusiner, S. B.: Familial Creutzfeldt-Jakob disease: codon 200 prion disease in Libyan Jews. Medicine 76: 227-237, 1997. 105. Mestel, R.: Putting prions to the test. Science 273: 184-189, 1996. 106. Miele, G.; Jeffrey, M.; Turnbull, D.; Manson, J.; Clinton, M. : Ablation of cellular prion protein expression affects mitochondrial numbers and morphology. Biochem. Biophys. Res. Commun. 291: 372-377, 2002. 107. Mishra, R. S.; Gu, Y.; Bose, S.; Verghese, S.; Kalepu, S.; Singh, N.: Cell surface accumulation of a truncated transmembrane prion protein in Gerstmann-Straussler-Scheinker disease P102L. J. Biol. Chem. 277: 24554-24561, 2002. 108. Mitrova, E.; Lowenthal, A.; Appeal, B.: Familial Creutzfeldt-Jakob disease with temporal and spatial separation of affected members. Europ. J. Epidemiol. 6: 233-238, 1990. 109. Monari, L.; Chen, S. G.; Brown, P.; Parchi, P.; Petersen, R. B.; Mikol, J.; Gray, F.; Cortelli, P.; Montagna, P.; Ghetti, B.; Goldfarb, L. G.; Gajdusek, D. C.; Lugaresi, E.; Gambetti, P.; Autilio-Gambetti, L.: Fatal familial insomnia and familial Creutzfeldt-Jakob disease: different prion proteins determined by a DNA polymorphism. Proc. Nat. Acad. Sci. 91: 2839-2842, 1994. 110. Montrasio, F.; Frigg, R.; Glatzel, M.; Klein, M. A.; Mackay, F.; Aguzzi, A.; Weissmann, C.: Impaired prion replication in spleens of mice lacking functional follicular dendritic cells. Science 288: 1257-1259, 2000. 111. Moore, R. C.; Xiang, F.; Monaghan, J.; Han, D.; Zhang, Z.; Edstrom, L.; Anvret, M.; Prusiner, S. B.: Huntington disease phenocopy is a familial prion disease. Am. J. Hum. Genet. 69: 1385-1388, 2001. 112. Mouillet-Richard, S.; Ermonval, M.; Chebassier, C.; Laplanche, J. L.; Lehmann, S.; Launay, J. M.; Kellermann, O.: Signal transduction through prion protein. Science 289: 1925-1928, 2000. 113. Mouillet-Richard, S.; Teil, C.; Lenne, M.; Hugon, S.; Taleb, O.; Laplanche, J.-L.: Mutation at codon 210 (V210I) of the prion protein gene in a North African patient with Creutzfeldt-Jakob disease. J. Neurol. Sci. 168: 141-144, 1999. 114. Nieto, A.; Goldfarb, L. G.; Brown, P.; McCombie, W. R.; Trapp, S.; Asher, D. M.; Gajdusek, D. C.: Codon 178 mutation in ethnically diverse Creutzfeldt-Jakob disease families. (Letter) Lancet 337: 622-623, 1991. 115. Nitrini, R.; Rosemberg, S.; Passos-Bueno, M. R.; da Silva, L. S. T.; Iughetti, P.; Papadopoulos, M.; Carrilho, P. M.; Caramelli, P.; Albrecht, S.; Zatz, M.; LeBlanc, A.: Familial spongiform encephalopathy associated with a novel prion protein gene mutation. Ann. Neurol. 42: 138-146, 1997. 116. Oesch, B.; Westaway, D.; Walchli, M.; McKinley, M. P.; Kent, S. B. H.; Aebersold, R.; Barry, R. A.; Tempst, P.; Teplow, D. B.; Hood, L. E.; Prusiner, S. B.; Weissmann, C.: A cellular gene encodes scrapie PrP 27-30 protein. Cell 40: 735-746, 1985. 117. Owen, F.; Poulter, M.; Collinge, J.; Crow, T. J.: Codon 129 changes in the prion protein gene in Caucasians. (Letter) Am. J. Hum. Genet. 46: 1215-1216, 1990. 118. Owen, F.; Poulter, M.; Collinge, J.; Crow, T. J.: A codon 129 polymorphism in the PRIP gene. Nucleic Acids Res. 18: 3103, 1990. 119. Owen, F.; Poulter, M.; Collinge, J.; Leach, M.; Lofthouse, R.; Crow, T. J.; Harding, A. E.: A dementing illness associated with a novel insertion in the prion protein gene. Molec. Brain Res. 13: 155-157, 1992. 120. Owen, F.; Poulter, M.; Lofthouse, R.; Collinge, J.; Crow, T. J.; Risby, D.; Baker, H. F.; Ridley, R. M.; Hsiao, K.; Prusiner, S. B.: Insertion in prion protein gene in familial Creutzfeldt-Jakob disease. (Letter) Lancet I: 51-52, 1989. 121. Owen, F.; Poulter, M.; Shah, T.; Collinge, J.; Lofthouse, R.; Baker, H.; Ridley, R.; McVey, J.; Crow, T. J.: An in-frame insertion in the prion protein gene in familial Creutzfeldt-Jakob disease. Molec. Brain Res. 7: 273-276, 1990. 122. Pablos-Mendez, A.; Netto, E. M.; Defendini, R.: Infectious prions or cytotoxic metabolites? Lancet 341: 159-161, 1993. 123. Palmer, M. S.; Collinge, J.: Mutations and polymorphisms in the prion protein gene. Hum. Mutat. 2: 168-173, 1993. 124. Palmer, M. S.; Dryden, A. J.; Hughes, J. T.; Collinge, J.: Homozygous prion protein genotype predisposes to sporadic Creutzfeldt-Jakob disease. Nature 352: 340-342, 1991. Note: Erratum: Nature 352: 547 only, 1991. 125. Panegyres, P. K.; Toufexis, K.; Kakulas, B. A.; Cernevakova, L.; Brown, P.; Ghetti, B.; Piccardo, P.; Dlouhy, S. R.: A new PRNP mutation (G131V) associated with Gerstmann-Straussler-Scheinker disease. Arch. Neurol. 58: 1899-1902, 2001. 126. Peretz, D.; Williamson, R. A.; Kaneko, K.; Vergara, J.; Leclerc, E.; Schmitt-Ulms, G.; Mehlhorn, I. R.; Legname, G.; Wormald, M. R.; Rudd, P. M.; Dwek, R. A.; Burton, D. R.; Prusiner, S. B.: Antibodies inhibit prion propagation and clear cell cultures of prion infectivity. Nature 412: 739-743, 2001. 127. Perry, R. T.; Go, R. C. P.; Harrell, L. E.; Acton, R. T.: SSCP analysis and sequencing of the human prion protein gene (PRNP) detects two different 24 bp deletions in an atypical Alzheimer's disease family. Am. J. Med. Genet. 60: 12-18, 1995. 128. Petchanikow, C.; Saborio, G. P.; Anderes, L.; Frossard, M.-J.; Olmedo, M. I.; Soto, C.: Biochemical and structural studies of the prion protein polymorphism. FEBS Lett. 509: 451-456, 2001. 129. Plaitakis, A.; Viskadouraki, A. K.; Tzagournissakis, M.; Zaganas, I.; Verghese-Nikolakaki, S.; Karagiorgis, V.; Panagiotides, I.; Kilindireas, C.; Patsouris, E.; Haberler, C.; Budka, H.; Sklaviadis, T.: Increased incidence of sporadic Creutzfeldt-Jakob disease on the island of Crete associated with a high rate of PRNP 129-methionine homozygosity in the local population. Ann. Neurol. 50: 227-233, 2001. 130. Pocchiari, M.; Salvatore, M.; Cutruzzola, F.; Genuardi, M.; Allcatelli, C. T.; Masullo, C.; Macchi, G.; Alema, G.; Galgani, S.; Xi, Y. G.; Petraroli, R.; Silvestrini, M. C.; Brunori, M.: A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease. Ann. Neurol. 34: 802-807, 1993. 131. Poulter, M.; Baker, H. F.; Frith, C. D.; Leach, M.; Lofthouse, R.; Ridley, R. M.; Shah, T.; Owen, F.; Collinge, J.; Brown, J.; Hardy, J.; Mullan, M. J.; Harding, A. E.; Bennett, C.; Doshi, R.; Crow, T. J.: Inherited prion disease with 144 base pair gene insertion. 1. Genealogical and molecular studies. Brain 115: 675-685, 1992. 132. Prusiner, S. B.: Molecular biology and genetics of prion diseases. Cold Spring Harbor Symp. Quant. Biol. 61: 473-493, 1996. 133. Prusiner, S. B.: Prions causing degenerative neurological diseases. Annu. Rev. Med. 38: 381-398, 1987. 134. Prusiner, S. B.: Molecular biology of prion diseases. Science 252: 1515-1522, 1991. 135. Prusiner, S. B.: Biology and genetics of prion diseases. Ann. Rev. Microbiol. 48: 655-686, 1994. 136. Prusiner, S. B.: Novel proteinaceous infectious particles cause scrapie. Science 216: 136-144, 1982. 137. Puckett, C.; Concannon, P.; Casey, C.; Hood, L.: Genomic structure of the human prion protein gene. Am. J. Hum. Genet. 49: 320-329, 1991. 138. Reder, A. T.; Mednick, A. S.; Brown, P.; Spire, J. P.; Cauter, V.; Wollmann, R. L.; Cervenakova, L.; Goldfarb, L. G.; Garay, A.; Ovsiew, F.; Gajdusek, D. C.; Roos, R. P.: Clinical and genetic studies of fatal familial insomnia. Neurology 45: 1068-1075, 1995. 139. Riek, R.; Wider, G.; Billeter, M.; Hornemann, S.; Glockshuber, R.; Wuthrich, K.: Prion protein NMR structure and familial human spongiform encephalopathies. Proc. Nat. Acad. Sci. 95: 11667-11672, 1998. 140. Rivera, H.; Zuffardi, O.; Maraschio, P.; Caiulo, A.; Anichini, C.; Scarinci, R.; Vivarelli, R.: Alternate centromere inactivation in a pseudodicentric (15;20)(pter;pter) associated with a progressive neurological disorder. J. Med. Genet. 26: 626-630, 1989. 141. Robakis, N. K.; Devine-Gage, E. A.; Jenkins, E. C.; Kascsak, R. J.; Brown, W. T.; Krawczun, M. S.; Silverman, W. P.: Localization of a human gene homologous to the PrP gene on the p arm of chromosome 20 and detection of PrP-related antigens in normal human brain. Biochem. Biophys. Res. Commun. 140: 758-765, 1986. 142. Sailer, A.; Bueler, H.; Fischer, M.; Aguzzi, A.; Weissmann, C. : No propagation of prions in mice devoid of PrP. Cell 77: 967-968, 1994. 143. Sakaguchi, S.; Katamine, S.; Nishida, N.; Moriuchi, R.; Shigamatsu, K.; Sugimoto, T.; Nakatani, A.; Kataoka, Y.; Houtani, T.; Shirabe, S.; Okada, H.; Hasegawa, S.; Miyamoto, T.; Noda, T.: Loss of cerebellar Purkinje cells in aged mice homozygous for a disrupted PrP gene. Nature 380: 528-531, 1996. 144. Samaia, H. B.; Mari, J. J.; Vallada, H. P.; Moura, R. P.; Simpson, A. J. G.; Brentani, R. R.: A prion-linked psychiatric disorder. Nature 390: 241 only, 1997. 145. Schellenberg, G. D.; Anderson, L.; O'dahl, S.; Wisjman, E. M.; Sadovnick, A. D.; Ball, M. J.; Larson, E. B.; Kukull, W. A.; Martin, G. M.; Roses, A. D.; Bird, T. D.: APP-717, APP-693, and PRIP gene mutations are rare in Alzheimer disease. Am. J. Hum. Genet. 49: 511-517, 1991. 146. Schnittger, S.; Gopal Rao, V. V. N.; Deutsch, U.; Gruss, P.; Balling, R.; Hansmann, I.: PAX1, a member of the paired box-containing class of developmental control genes, is mapped to human chromosome 20p11.2 by in situ hybridization (ISH and FISH). Genomics 14: 740-744, 1992. 147. Scott, M.; Foster, D.; Mirenda, C.; Serban, D.; Coufal, F.; Walchli, M.; Torchia, M.; Groth, D.; Carlson, G.; DeArmond, S. J.; Westaway, D.; Prusiner, S. B.: Transgenic mice expressing hamster prion protein produce species-specific scrapie infectivity and amyloid plaques. Cell 59: 847-857, 1989. 148. Shibuya, S.; Higuchi, J.; Shin, R.-W.; Tateishi, J.; Kitamoto, T.: Protective prion protein polymorphisms against sporadic Creutzfeldt-Jakob disease. (Letter) Lancet 351: 419 only, 1998. 149. Shmerling, D.; Hegyi, I.; Fischer, M.; Blattler, T.; Brandner, S.; Gotz, J.; Rulicke, T.; Flechsig, E.; Cozzio, A.; von Mering, C.; Hangartner, C.; Aguzzi, A.; Weissmann, C.: Expression of amino-terminally truncated PrP in the mouse leading to ataxia and specific cerebellar lesions. Cell 93: 203-214, 1998. 150. Simon, E. S.; Kahana, E.; Chapman, J.; Treves, T. A.; Gabizon, R.; Rosenmann, H.; Zilber, N.; Korczyn, A. D.: Creutzfeldt-Jakob disease profile in patients homozygous for the PRNP E200K mutation. Ann. Neurol. 47: 257-260, 2000. 151. Sparkes, R. S.; Simon, M.; Cohn, V. H.; Fournier, R. E. K.; Lem, J.; Klisak, I.; Heinzmann, C.; Blatt, C.; Lucero, M.; Mohandas, T.; DeArmond, S. J.; Westaway, D.; Prusiner, S. B.; Weiner, L. P.: Assignment of the human and mouse prion protein genes to homologous chromosomes. Proc. Nat. Acad. Sci. 83: 7358-7362, 1986. 152. Speer, M. C.; Goldgaber, D.; Goldfarb, L. G.; Roses, A. D.; Pericak-Vance, M. A.: Support of linkage of Gerstmann-Straussler-Scheinker syndrome to the prion protein gene on chromosome 20p12-pter. Genomics 9: 366-368, 1991. 153. Supattapone, S.; Bosque, P.; Muramoto, T.; Wille, H.; Aagaard, C.; Peretz, D.; Nguyen, H.-O. B.; Heinrich, C.; Torchia, M.; Safar, J.; Cohen, F. E.; DeArmond, S. J.; Prusiner, S. B.; Scott, M.: Prion protein of 106 residues creates an artificial transmission barrier for prion replication in transgenic mice. Cell 96: 869-878, 1999. 154. Supattapone, S.; Bouzamondo, E.; Ball, H. L.; Wille, H.; Nguyen, H.-O. B.; Cohen, F. E.; DeArmond, S. J.; Prusiner, S. B.; Scott, M. : A proteaseresistant 61-residue prion peptide causes neurodegeneration in transgenic mice. Molec. Cell. Biol. 21: 2608-2616, 2001. 155. Tagliavini, F.; Lievens, P. M.-J.; Tranchant, C.; Warter, J.-M.; Mohr, M.; Giaccone, G.; Perini, F.; Rossi, G.; Salmona, M.; Piccardo, P.; Ghetti, B.; Beavis, R. C.; Bugiani, O.; Frangione, B.; Prelli, F.: A 7-kDa prion protein (PrP) fragment, an integral component of the PrP region required for infectivity, is the major amyloid protein in Gerstmann-Straussler-Scheinker disease A117V. J. Biol. Chem. 276: 6009-6015, 2001. 156. Tagliavini, F.; Prelli, F.; Ghiso, J.; Bugiani, O.; Serban, D.; Prusiner, S. B.; Farlow, M. R.; Ghetti, B.; Frangione, B.: Amyloid protein of Gerstmann-Straussler-Scheinker disease (Indiana kindred) is an 11 kd fragment of prion protein with an N-terminal glycine at codon 58. EMBO J. 10: 513-519, 1991. 157. Tagliavini, F.; Prelli, F.; Porro, M.; Rossi, G.; Giaccone, G.; Farlow, M. R.; Dlouhy, S. R.; Ghetti, B.; Bugiani, O.; Frangione, B.: Amyloid fibrils in Gerstmann-Straussler-Scheinker disease (Indiana and Swedish kindreds) express only PrP peptides encoded by the mutant allele. Cell 79: 695-703, 1994. 158. Tateishi, J.; Brown, P.; Kitamoto, T.; Hoque, Z. M.; Roos, R.; Wollman, R.; Cervenakova, L.; Gajdusek, D. C.: First experimental transmission of fatal familial insomnia. Nature 376: 434-435, 1995. 159. Telling, G. C.; Parchi, P.; DeArmond, S. J.; Cortelli, P.; Montagna, P.; Gabizon, R.; Mastrianni, J.; Lugaresi, E.; Gambetti, P.; Prusiner, S. B.: Evidence for the conformation of the pathologic isoform of the prion protein enciphering and propagating prion diversity. Science 274: 2079-2082, 1996. 160. Telling, G. C.; Scott, M.; Mastrianni, J.; Gabizon, R.; Torchia, M.; Cohen, F. E.; DeArmond, S. J.; Prusiner, S. B.: Prion propagation in mice expressing human and chimeric PrP transgenes implicates the interaction of cellular PrP with another protein. Cell 83: 79-90, 1995. 161. Ter-Avanesyan, M. D.; Dagkesamanskaya, A. R.; Kushnirov, V. V.; Smirnov, V. N.: The SUP35 omnipotent suppressor gene is involved in the maintenance of the non-mendelian determinant [psi+] in the yeast Saccharomyces cerevisiae. Genetics 137: 671-676, 1994. 162. Tobler, I.; Gaus, S. E.; Deboer, T.; Ackermann, P.; Fischer, M.; Rullcke, T.; Moser, M.; Oesch, B.; McBride, P. A.; Manson, J. C.: Altered circadian activity rhythms and sleep in mice devoid of prion protein. Nature 380: 639-642, 1996. 163. Westaway, D.; DeArmond, S. J.; Cayetano-Canlas, J.; Groth, D.; Foster, D.; Yang, S.-L.; Torchia, M.; Carlson, G. A.; Prusiner, S. B.: Degeneration of skeletal muscle, peripheral nerves, and the central nervous system in transgenic mice overexpressing wild-type prion proteins. Cell 76: 117-129, 1994. 164. Whittington, M. A.; Sidle, K. C. L.; Gowland, I.; Meads, J.; Hill, A. F.; Palmer, M. S.; Jefferys, J. G. R.; Collinge, J.: Rescue of neurophysiological phenotype seen in PrP null mice by transgene encoding human prion protein. Nature Genet. 9: 197-201, 1995. 165. Wickner, R. B.: [URE3] as an altered URE2 protein: evidence for a prior analog in Saccharomyces cerevisiae. Science 264: 566-569, 1994. 166. Windl, O.; Giese, A.; Schulz-Schaeffer, W.; Zerr, I.; Skworc, K.; Arendt, S.; Oberdieck, C.; Bodemer, M.; Poser, S.; Kretzschmar, H. A.: Molecular genetics of human prion diseases in Germany. Hum. Genet. 105: 244-252, 1999. 167. Yamada, M.; Itoh, Y.; Fujigasaki, H.; Naruse, S.; Kaneko, K.; Kitamoto, T.; Tateishi, J.; Otomo, E.; Hayakawa, M.; Tanaka, J.; Matsushita, M.; Miyatake, T.: A missense mutation at codon 105 with codon 129 polymorphism of the prion protein gene in a new variant of Gerstmann-Straussler-Scheinker disease. Neurology 43: 2723-2724, 1993.
[0021023]11611.Kreczel, W.; Ghyselinck, N.; Samad, T. A.; Dupe, V.; Kastner, P.; Borrelli, E.; Chambon, P.: Impaired locomotion and dopamine signaling in retinoid receptor mutant mice. Science 279: 863-867, 1998.
[0021024]11612.Lotan, R.; Xu, X.-C.; Lippman, S. M.; Ro, J. Y.; Lee, J. S.; Lee, J. J.; Hong, W. K.: Suppression of retinoic acid receptor-beta in premalignant oral lesions and its up-regulation by isotretinoin. New Eng. J. Med. 332: 1405-1410, 1995.
[0021025]11613.Mattei, M.-G.; de The, H.; Mattei, J.-F.; Marchio, A.; Tiollais, P.; Dejean, A.: Assignment of the human hap retinoic acid receptor RAR-beta gene to the p24 band of chromosome 3. Hum. Genet. 80: 189-190, 1988.
[0021026]11614.Nadeau, J. H.; Compton, J. G.; Giguere, V.; Rossant, J.; Varmuza, S.: Close linkage of retinoic acid receptor genes with homeobox- and keratin-encoding genes on paralogous segments of mouse chromosomes 11 and 15. Mammalian Genome 3: 202-208, 1992.
[0021027]11615.Samad, A.; Kreczel, W.; Chambon, P.; Borrelli, E.: Regulation of dopaminergic pathways by retinoids: activation of the D2 receptor promoter by members of the retinoic acid receptorretinoid X receptor family. Proc. Nat. Acad. Sci. 94: 14349-14354, 1997.
[0021028]11616.Flagiello, D.; Apiou, F.; Gibaud, A.; Poupon, M. F.; Dutirllaux, B.; Malfoy, B.: Assignment of the genes for cellular retinoic acid binding protein 1 (CRABP1) and 2 (CRABP2) to human chromosome band 15q24 and 1q21.3, respectively, by in situ hybridization. Cytogenet. Cell Genet. 76: 17-18, 1997.
[0021029]11617.Geurts van Kessel, A.; de Leeuw, H.; Dekker, E. J.; Rijks, L.; Spurr, N.; Ledbetter, D.; Kootwijk, E.; Vaessen, M. J.: Localization of the cellular retinoic acid binding protein (CRABP) gene relative to the acute promyelocytic leukemia-associated breakpoint on human chromosome 15. Hum. Genet. 87: 201-204, 1991.
[0021030]11618.MacGregor, T. M.; Copeland, N. G.; Jenkins, N. A.; Giguere, V. : The murine gene for cellular retinoic acid-binding protein type II: genomic organization, chromosomal localization, and posttranscriptional regulation by retinoic acid. J. Biol. Chem. 267: 7777-7783, 1992.
[0021031]11619.Ong, D. E.: Cellular retinoid-binding proteins. Arch. Derm. 123: 1693-1695, 1987.
[0021032]11620.Vaessen, M. J.; Rijks, L.; Dekker, E. J.; Kootwijk, E.; Bootsma, D.; Westerveld, A.; Geurts van Kessel, A. H. M.: Localization of the human cellular retinoic acid-binding protein (CRABP) on chromosome 15. (Abstract) Cytogenet. Cell Genet. 51: 1094 only, 1989.
[0021033]11621.Alcalay, M.; Zangrilli, D.; Pandolfi, P. P.; Longo, L.; Mencarelli, A.; Giacomucci, A.; Rocchi, M.; Biondi, A.; Rambaldi, A.; Lo Coco, F.; Diverio, D.; Donti, E.; Grignani, F.; Pelicci, P. G.: Translocation breakpoint of acute promyelocytic leukemia lies within the retinoic acid receptor alpha locus. Proc. Nat. Acad. Sci. 88: 1977-1981, 1991.
[0021034]11622.Arveiler, B.; Petkovich, M.; Mandel, J. L.; Chambon, P.: A PstI RFLP for the human retinoic acid receptor in 17q21. Nucleic Acids Res. 16: 6252 only, 1988.
[0021035]11623.Bale, A. E.; Weinberger, C.; McBride, O. W.: A retinoic acid receptor cDNA probe (RAR2) identifies a moderately frequent RFLP on chromosome 17. Nucleic Acids Res. 16: 7755 only, 1988.
[0021036]11624.Borrow, J.; Goddard, A. D.; Sheer, D.; Solomon, E.: Molecular analysis of acute promyelocytic leukemia breakpoint cluster region on chromosome 17. Science 249: 1577-1580, 1990.
[0021037]11625.Brand, N.; Petkovich, M.; Krust, A.; Chambon, P.; de The, H.; Marchio, A.; Tiollais, P.; Dejean, A.: Identification of a second human retinoic acid receptor.(Letter) Nature 332: 850-853, 1988.
[0021038]11626.Jeremiah, S. J.; West, L. F.; Abbott, C. M.; Murad, Z.; Povey, S.; Thomas, H. J.; Solomon, E.; Di Scipio, R.; Fey, G. H.: Three genes coding for late acting components of complement assigned to chromosome 5. (Abstract) Cytogenet. Cell Genet. 51: 1019 only, 1989.
[0021039]11627.Dodd, J.; Morton, S. B.; Karagogeos, D.; Yamamoto, M.; Jessell, T. M.: Spatial regulation of axonal glycoprotein expression on subsets of embryonic spinal neurons. Neuron 1: 105-116, 1988.
[0021040]11628.Freigang, J.; Proba, K.; Leder, L.; Diederichs, K.; Sonderegger, P.; Welte, W.: The crystal structure of the ligand binding module of axonin-1/TAG-1 suggests a zipper mechanism for neural cell adhesion. Cell 101: 425-433, 2000.
[0021041]11629.Kenwrick, S.; Leversha, M.; Rooke, L.; Hasler, T.; Sonderegger, P.: Localization of the human TAX-1 gene to 1q32.1: a region implicated in microcephaly and Van der Woude syndrome. Hum. Molec. Genet. 2: 1461-1462, 1993.
[0021042]11630.Kozlov, S. V.; Giger, R. J.; Hasler, T.; Korvatska, E.; Schorderet, D. F.; Sonderegger, P.: The human TAX1 gene encoding the axon-associated cell adhesion molecule TAG-1/axonin-1: genomic structure and basic promoter. Genomics 30: 141-148, 1995.
[0021043]11631.Rickman, D. S.; Tyagi, R.; Zhu, X.-X.; Bobek, M. P.; Song, S.; Blaivas, M.; Misek, D. E.; Israel, M. A.; Kurnit, D. M.; Ross, D. A.; Kish, P. E.; Hanash, S. M.: The gene for the axonal cell adhesion molecule TAX-1 is amplified and aberrantly expressed in malignant gliomas. Cancer Res. 61: 2162-2168, 2001.
[0021044]11632.Tsiotra, P. C.; Karagogeos, D.; Theodorakis, K.; Michaelisis, T. M.; Modi, W. S.; Furley, A. J.; Jessell, T. M.; Papamatheakis, J. : Isolation of the cDNA and chromosomal localization of the gene (TAX1) encoding the human axonal glycoprotein TAG-1. Genomics 18: 562-567, 1993.
[0021045]11633.Artavanis-Tsakonas, S.; Matsuono, K.; Fortini, M.: Notch signaling. Science 268: 225-232, 1995.
[0021046]11634.Bruckner, K.; Perez, L.; Clausen, H.; Cohen, S.: Glycosyltransferase activity of Fringe modulates Notch-Delta interactions. Nature 406: 411-415, 2000.
[0021047]11635.Ackerman, M. J.; Clapham, D. E.: Ion channels--basic science and clinical disease. New Eng. J. Med. 336: 1575-1586, 1997.
[0021048]11636.Ackerman, M. J.; Schroeder, J. J.; Berry, R.; Schaid, D. J.; Porter, C.-B. J.; Michels, V. V.; Thibodeau, S. N.: A novel mutation in KVLQT1 is the molecular basis of inherited long QT syndrome in a near-drowning patient's family. Pediat. Res. 44: 148-153, 1998.
[0021049]11637.Ackerman, M. J.; Tester, D. J.; Porter, C. J.; Edwards, W. D.: Molecular diagnosis of the inherited long-QT syndrome in a woman who died after near-drowning. New Eng. J. Med. 341: 1121-1125, 1999.
[0021050]11638.Barlow, D. P.: Box: KVLQT1 complexities in Beckwith-Wiedeman (sic) syndrome. Nature Genet. 15: 114 only, 1997.
[0021051]11639.Barlow, J. B.; Bosman, C. K.; Cochrane, J. W. C.: Congenital cardiac arrhythmia. Lancet II: 531 only, 1964.
[0021052]11640.Baudouy, P.; Andreassian, B.; Attuel, P.; Greze, M.; Soulie, J.; Fruchaud, J.: Syndrome de Romano-Ward et stellectomie gauche: revue generale a propos d'un nouveau cas. Arch. Mal. Coeur 70: 645-652, 1977.
[0021053]11641.Benhorin, J.; Kalman, Y. M.; Medina, A.; Towbin, J.; Rave-Harel, N.; Dyer, T. D.; Blangero, J.; MacCluer, J. W.; Kerem, B.: Evidence of genetic heterogeneity in the long QT syndrome. Science 260: 1960-1962, 1993.
[0021054]11642.Bhandari, A. K.; Scheinman, M.: The long QT syndrome. Mod. Concepts Cardiovasc. Dis. 54: 45-50, 1985.
[0021055]11643.Bonduelle, M.: Personal Communication. Brussels, Belgium 5/30/1993.
[0021056]11644.Casimiro, M. C.; Knollmann, B. C.; Ebert, S. N.; Vary, J. C., Jr.; Greene, A. E.; Franz, M. R.; Grinberg, A.; Huang, S. P.; Pfeifer, K.: Targeted disruption of the Kcnq1 gene produces a mouse model of Jervell and Lange-Nielsen syndrome. Proc. Nat. Acad. Sci. 98: 2526-2531, 2001.
[0021057]11645.Chen, Q.; Zhang, D.; Gingell, R. L.; Moss, A. J.; Napolitano, C.; Priori, S. G.; Schwartz, P. J.; Kehoe, E.; Robinson, J. L.; Schulze-Bahr, E.; Wang, Q.; Towbin, J. A.: Homozygous deletion in KVLQT1 associated with Jervell and Lange-Nielsen syndrome. Circulation 99: 1344-1347, 1999.
[0021058]11646.Cleary, M. A.; van Raamsdonk, C. D.; Levorse, J.; Zheng, B.; Bradley, A.; Tilghman, S. M.: Disruption of an imprinted gene cluster by a targeted chromosomal translocation in mice. Nature Genet. 29: 78-82, 2001.
[0021059]11647.Curran, M.; Atkinson, D.; Timothy, K.; Vincent, G. M.; Moss, A. J.; Leppert, M.; Keating, M.: Locus heterogeneity of autosomal dominant long QT syndrome. J. Clin. Invest. 92: 799-803, 1993.
[0021060]11648.DeSilvey, D. L.; Moss, A. J.: Primidone in the treatment of the long QT syndrome: QT shortening and ventricular arrhythmia suppression. Ann. Intern. Med. 93: 53-54, 1980.
[0021061]11649.DiSegni, E.; David, D.; Katzenstein, M.; Klein, H. O.; Kaplinsky, E.; Levy, M. J.: Permanent overdrive pacing for the suppression of recurrent ventricular tachycardia in a newborn with long QT syndrome. J. Electrocardiol. 13: 189-192, 1980.
[0021062]11650.Donger, C.; Denjoy, I.; Berthet, M.; Neyroud, N.; Cruaud, C.; Bennaceur, M.; Chivoret, G.; Schwartz, K.; Coumel, P.; Guicheney, P.: KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome. Circulation 96: 2778-2781, 1997.
[0021063]11651.Engel, J. R.; et al.; et al.: Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome. J. Med. Genet. 37: 921-926, 2000.
[0021064]11652.Fitzpatrick, G. V.; Soloway, P. D.; Higgins, M. J.: Regional loss of imprinting and growth deficiency in mice with a targeted deletion of KvDMR1. Nature Genet. 9Sept, 2002. Note: Advance Electronic Publication.
[0021065]11653.Flugelman, M. Y.; Pollack, S.; Hammerman, H.; Riss, E.; Barzilai, D.: Congenital prolongation of Q-T interval: a family study of three generations. Cardiology 69: 170-174, 1982.
[0021066]11654.Furgerg, C.; Hornell, H.: Familial QT prolongation and risk of sudden death. Acta Paediat. Scand. 64: 777-782, 1975.
[0021067]11655.Gale, G. E.; Bosman, C. K.; Tucker, R. B. K.; Barlow, J. B.: Hereditary prolongation of Q-T interval: study of two families. Brit. Heart J. 32: 505-509, 1970.
[0021068]11656.Gamstorp, I.; Nilsen, R.; Westling, H.: Congenital cardiac arrhythmia. (Letter) Lancet II: 965 only, 1964.
[0021069]11657.Garza, L. A.; Vick, R. L.; Nora, J. J.; McNamara, D. G.: Heritable Q-T prolongation without deafness. Circulation 41: 39-48, 1970.
[0021070]11658.Giuffre, R. M.; Hejtmancik, J. F.; McCabe, E. R. B.; Towbin, J. A.: Long QT (Romano-Ward) syndrome: molecular genetic evidence against tight HLA linkage. (Abstract) Am. J. Hum. Genet. 47 (suppl.): A180 only, 1990.
[0021071]11659.Gohl, K.; Feistel, H.; Weikl, A.; Bachmann, K.; Wolf, F.: Congenital myocardial sympathetic dysinnervation (CMSD)--a structural defect of idiopathic long QT syndrome. PACE 14: 1544-1553, 1991.
[0021072]11660.Hashiba, K.: Hereditary QT prolongation syndrome in Japan: genetic analysis and pathological findings of the conduction system. Jpn. Circ. J. 42: 1133-1150, 1978.
[0021073]11661.Horn, C. A.; Beekman, R. H.; Dick, M., II; Lacina, S. J.: The congenital long QT syndrome: an unusual cause of childhood seizures. Am. J. Dis. Child. 140: 659-661, 1986.
[0021074]11662.Itoh, S.; Munemura, S.; Satoh, H.: A study of the inheritance pattern of Romano-Ward syndrome: prolonged Q-T interval, syncope, and sudden death. Clin. Pediat. 21: 20-24, 1982.
[0021075]11663.Bulle, F.; Mattei, M. G.; Siegrist, S.; Pawlak, A.; Passage, E.; Chobert, M. N.; Laperche, Y.; Guellaen, G.: Assignment of the human gamma-glutamyl transferase gene to the long arm of chromosome 22. Hum. Genet. 76: 283-286, 1987.
[0021076]11664.Tsuchida, Y.; Yokomori, K.; Choi, S. H.: Hereditary renal tumors: Wilms' tumor--congenital anomalies' syndrome. Nippon Rinsho 53: 2742-2748, 1995.
[0021077]11665.Turleau, C.; de Grouchy, J.; Dufier, J. L.; Phuc, L. H.; Schmelck, P. H.; Rappaport, R.; Nihoul-Fekete, C.; Diebold, N.: Aniridia, male pseudohermaphroditism, gonadoblastoma, mental retardation, and del 11p13. Hum. Genet. 57: 300-306, 1981.
[0021078]11666.Turleau, C.; de Grouchy, J.; Tournade, M.-F.; Gagnadoux, M.-F.; Junien, C.: Del 11p/aniridia complex: report of three patients and review of 37 observations from the literature. Clin. Genet. 26: 356-362, 1984.
[0021079]11667.van Heyningen, V.; Boyd, P. A.; Seawright, A.; Fletcher, J. M.; Fantes, J. A.; Buckton, K. E.; Spowart, G.; Porteous, D. J.; Hill, R. E.; Newton, M. S.; Hastie, N. D.: Molecular analysis of chromosome 11 deletions in aniridia-Wilms tumor syndrome. Proc. Nat. Acad. Sci. 82: 8592-8596, 1985.
[0021080]11668.Varanasi, R.; Bardeesy, N.; Ghahremani, M.; Petruzzi, M.-J.; Nowak, N.; Adam, M. A.; Grundy, P.; Shows, T. B.; Pelletier, J.: Fine structure analysis of the WT1 gene in sporadic Wilms tumor. Proc. Nat. Acad. Sci. 91: 3554-3558, 1994.
[0021081]11669.Weissman, B. E.; Saxon, P. J.; Pasquale, S. R.; Jones, G. R.; Geiser, A. G.; Stanbridge, E. J.: Introduction of normal human chromosome into a Wilms' tumor cell line controls its tumorigenic expression. Science 236: 175-180, 1987.
[0021082]11670.White, G. R. M.; Kelsey, A. M.; Varley, J. M.; Birch, J. M.: Somatic glypican 3 (GPC3) mutations in Wilms' tumour. Brit. J. Cancer 86: 1920-1922, 2002.
[0021083]11671.Yunis, J. J.; Ramsay, K. C.: Familial occurrence of the aniridia-Wilms tumor syndrome with deletion 11p13-14.1. J. Pediat. 96: 1027-1030, 1980.
[0021084]11672.Brown, J. R.; Daar, I. O.; Krug, J. R.; Maquat, L. E.: Characterization of the functional gene and several processed pseudogenes in the human triosephosphate isomerase gene family. Molec. Cell. Biol. 5: 1694-1706, 1985.
[0021085]11673.Van Goethem, G.; Dermaut, B.; Lofgren, A.; Martin, J.-J.; Van Broeckhoven, C.: Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nature Genet. 28: 211-212, 2001.
[0021086]11674.Uchida, S.; Kwon, H. M.; Yamauchi, A.; Preston, A. S.; Marumo, F.; Handler, J. S.: Molecular cloning of the cDNA for an MDCK cell Na(+)- and Cl(-)-dependent taurine transporter that is regulated by hypertonicity. Proc. Nat. Acad. Sci. 89: 8230-8234, 1992.
[0021087]11675.Neyroud, N.; Tesson, F.; Denjoy, I.; Leibovici, M.; Donger, C.; Barhanin, J.; Faure, S.; Gary, F.; Coumel, P.; Petit, C.; Schwartz, K.; Guicheney, P.: A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nature Genet. 15: 186-189, 1997.
[0021088]11676.Pervaiz, S.; Brew, K.: Homology of beta-lactoglobulin, serum retinol-binding protein, and protein HC. Science 228: 335-337, 1985.
[0021089]11677.Barber, G. N.; Edelhoff, S.; Katze, M. G.; Disteche, C. M.: Chromosomal assignment of the interferon-inducible double-stranded RNA-dependent protein kinase (PRKR) to human chromosome 2p21-p22 and mouse chromosome 17 E2. Genomics 16: 765-767, 1993.
[0021090]11678.Kuhen, K. L.; Shen, X.; Carlisle, E. R.; Richardson, A.L.; Weier, H.-U. G.; Tanaka, H.; Samuel, C. E.: Structural organization of the human gene (PKR) encoding an interferon-inducible RNAdependent protein kinase (PKR) and differences from its mouse homolog. Genomics 36: 197-201, 1996.
[0021091]11679.Kuhen, K. L.; Shen, X.; Samuel, C. E.: Mechanism of interferon action: sequence of the human interferon-inducible RNA-dependent protein kinase (PKR) deduced from genomic clones. Gene 178: 191-193, 1996.
[0021092]11680.Hummler, E.; Barker, P.; Gatzy, J.; Beermann, F.; Verdumo, C.; Schmidt, A.; Boucher, R.; Rossier, B. C.: Early death due to defective neonatal lung liquid clearance in alpha-ENaC-deficient mice. Nature Genet. 12: 325-328, 1996.
[0021093]11681.Rogers, M. A.; Winter, H.; Langbein, L.; Krieg, T.; Schweizer, J.: Genomic characterization of the human type I cuticular hair keratin hHa2 and identification of an adjacent novel type I hair keratin gene hHa5. J. Invest. Derm. 107: 633-638, 1996.
[0021094]11682.Hansen, R. S.; Wijmenga, C.; Luo, P.; Stanek, A. M.; Canfield, T. K.; Weemaes, C. M. R.; Gartler, S. M.: The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome. Proc. Nat. Acad. Sci. 96: 14412-14417, 1999.
[0021095]11683.Hassan, K. M. A.; Norwood, T.; Gimelli, G.; Gartler, S. M.; Hansen, R. S.: Satellite 2 methylation patterns in normal and ICF syndrome cells and association of hypomethylation with advanced replication. Hum. Genet. 109: 452-462, 2001.
[0021096]11684.Shirohzu, H.; Kubota, T.; Kumazawa, A.; Sado, T.; Chijiwa, T.; Inagaki, K.; Suetake, I.; Tajima, S.; Wakui, K.; Miki, Y.; Hayashi, M.; Fukushima, Y.; Sasaki, H.: Three novel DNMT3B mutations in Japanese patients with ICF syndrome. Am. J. Med. Genet. 112: 31-37, 2002.
[0021097]11685.Imataka, H.; Sogawa, K.; Yasumoto, K.; Kikuchi, Y.; Sasano, K.; Kobayashi, A.; Hayami, M.; Fujii-Kuriyama, Y.: Two regulatory proteins that bind to the basic transcription element (BTE), a GC box sequence in the promoter region of the rat P-4501A1 gene. EMBO J. 11: 3663-3671, 1992.
[0021098]11686.Ohe, N.; Yamasaki, Y.; Sogawa, K.; Inazawa, J.; Ariyama, T.; Oshimura, M.; Fujii-Kuriyama, Y.: Chromosomal localization and cDNA sequence of human BTEB, a GC box binding protein. Somat. Cell Molec. Genet. 19: 499-503, 1993.
[0021099]11687.Salinas, M.; Duprat, F.; Heurteaux, C.; Hugnot, J.-P.; Lazdunski, M.: New modulatory alpha subunits for mammalian Shab K(+) channels. J. Biol. Chem. 272: 24371-24379, 1997.
[0021100]11688.Cheng, J.; Scully, P.; Shew, J. Y.; Lee, W. H.; Vila, V.; Haas, M.: Homozygous deletion of the retinoblastoma gene in an acute lymphoblastic leukemia (T) cell line. Blood 75: 730-735, 1990.
[0021101]11689.Lee, E. Y.; To, H.; Shew, J. Y.; Bookstein, R.; Scully, P.; Lee, W. H.: Inactivation of the retinoblastoma susceptibility gene in human breast cancers. Science 241: 218-221, 1988.
[0021102]11690.Lambotte, S.; Veyhl, M.; Kohler, M.; Morrison-Shetlar, A. I.; Kinne, R. K. H.; Schmid, M.; Koepsell, H.: The human gene of a protein that modifies Na+-D-glucose co-transport. DNA Cell Biol. 15: 769-777, 1996.
[0021103]11691.Kas, K.; Roijer, E.; Voz, M.; Meyen, E.; Stenman, G.; Van de Ven, W. J. M.: A 2-Mb YAC contig and physical map covering the chromosome 8q12 breakpoint cluster region in pleomorphic adenomas of the salivary glands. Genomics 43: 349-358, 1997.
[0021104]11692.Kas, K.; Voz, M. L.; Roijer, E.; Astrom, A.-K.; Meyen, E.; Stenman, G.; Van de Ven, W. J. M.: Promoter swapping between the genes for a novel zinc finger protein and beta-catenin in pleiomorphic adenomas with t(3;8)(p21;q12) translocations. Nature Genet. 15: 170-174, 1997.
[0021105]11693.Tillmann, H.; Eschrich, K.: Isolation and characterization of an allelic cDNA for human muscle fructose-1,6-biphosphatase. Gene 212: 295-304, 1998.
[0021106]11694.Aderem, A.; Ulevitch, R. J.: Toll-like receptors in the induction of the innate immune response. Nature 406: 780-785, 2000.
[0021107]11695.Szabo, G.; Dallmann, G.; Muller, G.; Patthy, L.; Soller, M.; Varga, L.: A deletion in the myostatin gene causes the compact (Cmpt) hypermuscular mutation in mice. Mammalian Genome 9: 671-672, 1998.
[0021108]11696.Zimmers, T. A.; Davies, M. V.; Koniaris, L. G.; Haynes, P.; Esquela, A. F.; Tomkinson, K. N.; McPherron, A. C.; Wolfman, N. M.; Lee, S.-J. : Induction of cachexia in mice by systemically administered myostatin. Science 296: 1486-1488, 2002.
[0021109]11697.Cohen, P.; Rylatt, D. B.; Nimmo, G. A.: The hormonal control of glycogen metabolism: the amino acid sequence at the phosphorylation site of protein phosphatase inhibitor-1. FEBS Lett. 76: 182-186, 1977.
[0021110]11698.Helps, N. R.; Street, A. J.; Elledge, S. J.; Cohen, P. T.: Cloning of the complete coding region for human protein phosphatase inhibitor 2 using the two hybrid system and expression of inhibitor 2 in E. coli. FEBS Lett. 340: 93-98, 1994.
[0021111]11699.Huang, F. L.; Glinsmann, W. H.: Separation and characterization of two phosphorylase phosphatase inhibitors from rabbit skeletal muscle. Europ. J. Biochem. 70: 419-426, 1976.
[0021112]11700.Majer, M.; Mott, D. M.; Mochizuki, H.; Rowles, J. C.; Pedersen, O.; Knowler, W. C.; Bogardus, C.; Prochazka, M.: Association of the glycogen synthase locus on 19q13 with NIDDM in Pima Indians. Diabetologia 39: 314-321, 1996.
[0021113]11701.Permana, P. A.; Mott, D. M.: Genetic analysis of human type 1 protein phosphatase inhibitor 2 in insulin-resistant Pima Indians. Genomics 41: 110-114, 1997.
[0021114]11702.Prochazka, M.; Mochizuki, H.; Baier, L. J.; Cohen, P. T. W.; Bogardus, C.: Molecular and linkage analysis of type-1 protein phosphatase catalytic beta-subunit gene: lack of evidence for its major role in insulin resistance in Pima Indians. Diabetologia 38: 461-466, 1995.
[0021115]11703.Sakagami, H.; Kondo, H.: Molecular cloning of the cDNA for rat phosphatase inhibitor-2 and its wide gene expression in the central nervous system. J. Chem. Neuroanat. 8: 259-266, 1995.
[0021116]11704.Sanseau, P.; Jackson, A.; Alderton, R. P.; Beck, S.; Senger, G.; Sheer, D.; Kelly, A.; Trowsdale, J.: Cloning and characterization of human phosphatase inhibitor-2 (IPP-2) sequences. Mammalian Genome 5: 490-496, 1994.
[0021117]11705.Durand, B.; Sperisen, P.; Emery, P.; Barras, E.; Zufferey, M.; Mach, B.; Reith, W.: RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency. EMBO J. 16: 1045-1055, 1997.
[0021118]11706.Mach, B.: Personal Communication. Geneva, Switzerland 10/28/1998.
[0021119]11707.Nekrep, N.; Jabrane-Ferrat, N.; Peterlin, B. M.: Mutations in the bare lymphocyte syndrome define critical steps in the assembly of the regulatory factor X complex. Molec. Cell Biol. 20: 4455-4461, 2000.
[0021120]11708.Schwartz, R. S.: The case of the bare lymphocyte syndrome: tracking down faulty transcription factors. (Editorial) New Eng. J. Med. 337: 781-783, 1997.
[0021121]11709.Steimle, V.; Durand, B.; Barras, E.; Zufferey, M.; Hadam, M. R.; Mach, B.; Reith, W.: A novel DNA binding-regulatory factor is mutated in primary MHC class II deficiency (bare lymphocyte syndrome). Genes Dev. 9: 1021-1032, 1995.
[0021122]11710.Touraine, J. L.; Betuel, H.: Immunodeficiency diseases and expression of HLA antigens. Hum. Immun. 2: 147-153, 1981.
[0021123]11711.Villard, J.; Lisowska-Grospierre, B.; van den Elsen, P.; Fischer, A.; Reith, W.; Mach, B.: Mutation of RFXAP, a regulator of MHC class II genes, in primary MHC class II deficiency. New Eng. J. Med. 337: 748-753, 1997.
[0021124]11712.Peijnenburg, A.; Van Eggermond, M. C. J. A.; Van den Berg, R.; Sanal, O.; Vossen, J. M. J. J.; Van den Elsen, P. J.: Molecular analysis of an MHC class II deficiency patient reveals a novel mutation in the RFX5 gene. Immunogenetics 49: 338-345, 1999.
[0021125]11713.Kim, I.; Kim, J.-H.; Ryu, Y. S.; Jung, S. H.; Nah, J. J.; Koh, G. Y.: Characterization and expression of a novel alternatively spliced human angiopoietin-2. J. Biol. Chem. 275: 18550-18556, 2000.
[0021126]11714.Maisonpierre, P. C.; Suri, C.; Jones, P. F.; Bartunkova, S.; Wiegand, S. J.; Radziejewski, C.; Compton, D.; McClain, J.; Aldrich, T. H.; Papadopoulos, N.; Daly, T. J.; Davis, S.; Sato, T. N.; Yancopoulos, G. D.: Angiopoietin-2, a natural antagonist for Tie2 that disrupts in vivo angiogenesis. Science 277: 55-60, 1997.
[0021127]11715.Tanaka, S.; Mori, M.; Sakamoto, Y.; Makuuchi, M.; Sugimachi, K.; Wands, J. R.: Biologic significance of angiopoietin-2 expression in human hepatocellular carcinoma. J. Clin. Invest. 103: 341-345, 1999.
[0021128]11716.Chow, V. T. K.; Quek, H. H.: HEP-COP, a novel human gene whose product is highly homologous to the alpha-subunit of the yeast coatomer protein complex. Gene 169: 223-227, 1996.
[0021129]11717.Quek, H. H.; Chow, V. T. K.: Molecular and cellular studies of the human homolog of the 160-kD alpha-subunit of the coatomer protein complex. DNA Cell Biol. 16: 275-280, 1997.
[0021130]11718.Quek, H. H.; Chow, V. T. K.: Genomic organization and mapping of the human HEPCOP gene (COPA) to 1q. Cytogenet. Cell Genet. 76: 139-143, 1997.
[0021131]11719.Leffers, H.; Nielsen, M. S.; Andersen, A. H.; Honore, B.; Madsen, P.; Vandekerckhove, J.; Celis, J. E.: Identification of two human rho GDP dissociation inhibitor proteins whose overexpression leads to disruption of the actin cytoskeleton. Exp. Cell Res. 209: 165-174, 1993.
[0021132]11720.Wagner, T.; Tommerup, N.; Wirth, J.; Leffers, H.; Zimmer, J.; Back, E.; Weissenbach, J.; Scherer, G.: A somatic cell hybrid panel for distal 17q: GDIA1 maps to 17q25.3. Cytogenet. Cell Genet. 76: 172-175, 1997.
[0021133]11721.Collin, T.; Lory, P.; Taviaux, S.; Courtieu, C.; Guillbault, P.; Berta, P.; Nargeot, J.: Cloning, chromosomal location and functional expression of the human voltage-dependent calciumchannel beta 3 subunit. Europ. J. Biochem. 220: 257-262, 1994.
[0021134]11722.Yamada, Y.; Masuda, K.; Li, Q.; Ihara, Y.; Kubota, A.; Miura, T.; Nakamura, K.; Fujii, Y. Seino, S.; Seino, Y.: The structures of the human calcium channel alpha 1 subunit (CACNL1A2) and beta subunit (CACNLB3) genes. Genomics 27: 312-319, 1995.
[0021135]11723.Katsanis, N.; Yaspo, M.-L.; Fisher, E. M. C.: Identification and mapping of a novel human gene, HRMT1L1, homologous to the rat protein arginine N-methyltransferase 1 (PRMT1) gene. Mammalian Genome 8: 526-529, 1997.
[0021136]11724.Lin, W. J.; Gary, J. D.; Yang, M. C.; Clarke, S.; Herschman, H. R.: The mammalian intermediate-early TIS21 protein and the leukemia-associated BTG1 protein interact with a proteinarginine N-methyltransferase. J. Biol. Chem. 271: 15034-15044, 1996.
[0021137]11725.Scott, H. S.; Antonarakis, S. E.; Lalioti, M. D.; Rossier, C.; Silver, P. A.; Henry, M. F.: Identification and characterization of two putative human arginine methyltransferases (HRMT1L1 and HRMT1L2). Genomics 48: 330-340, 1998.
[0021138]11726.Herberg, J. A.; Sgouros, J.; Jones, T.; Copeman, J.; Humphray, S. J.; Sheer, D.; Cresswell, P.; Beck, S.; Trowsdale, J.: Genomic analysis of the Tapasin gene, located close to the TAP loci in the MHC. Europ. J. Immun. 28: 459-467, 1998.
[0021139]11727.Mayer, W. E.; Klein, J.: Is tapasin a modified Mhc class I molecule? Immunogenetics 53: 719-723, 2001.
[0021140]11728.Michalova, V.; Murray, B. W.; Sultmann, H.; Klein, J.: A contig map of the Mhc class I genomic region in the zebrafish reveals ancient synteny. J. Immun. 164: 5296-5305, 2000.
[0021141]11729.Ortmann, B.; Copeman, J.; Lehner, P. J.; Sadasivan, B.; Herberg, J. A.; Grandea, A. G.; Riddell, S. R.; Tampe, R.; Spies, T.; Trowsdale, J.; Cresswell, P.: A critical role for tapasin in the assembly and function of multimeric MHC class I-TAP complexes. Science 277: 1306-1309, 1997.
[0021142]11730.Sadasivan, B.; Lehner, P. J.; Ortmann, B.; Spies, T.; Cresswell, P.: Roles for calreticulin and a novel glycoprotein, tapasin, in the interaction of MHC class I molecules with TAP. Immunity 5: 103-114, 1996.
[0021143]11731.Teng, M. S.; Stephens, R.; Du Pasquier, L.; Freeman, T.; Lindquist, J. A.; Trowsdale, J.: A human TAPBP (TAPASIN)-related gene, TAPBP-R. Europ. J. Immun. 32: 1059-1068, 2002.
[0021144]11732.Yabe, T.; Kawamura, S.; Sato, M.; Kashiwase, K.; Tanaka, H.; Ishikawa, Y.; Asao, Y.; Oyama, J.; Tsuruta, K.; Tokunaga, K.; Tadokoro, K.; Juji, T.: A subject with a novel type I bare lymphocyte syndrome has tapasin deficiency due to deletion of 4 exons by Alu-mediated recombination. Blood 100: 1496-1498, 2002.
[0021145]11733.Blank, V.; Kim, M. J.; Andrews, N. C.: Human MAFG is a functional partner for p45 NF-E2 in activating globin gene expression. Blood 89: 3925-3935, 1997.
[0021146]11734.Blank, V.; Knoll, J. H. M.; Andrews, N. C.: Molecular characterization and localization of the human MafG gene. Genomics 44: 147-149, 1997.
[0021147]11735.Estevez, R.; Boettger, T.; Stein, V.; Birkenhager, R.; Otto, E.; Hildebrandt, F.; Jentsch, T. J.: Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion. Nature 414: 558-561, 2001.
[0021148]11736.Ishikawa, S.; Takahashi, T.; Ogawa, M.; Nakamura, Y.: Genomic structure of the human PLCD1 (phospholipase C delta 1) locus on 3p22-p21.3. Cytogenet. Cell Genet. 78: 58-60, 1997.
[0021149]11737.Branda, S. S.; Yang, Z.; Chew, A.; Isaya, G.: Mitochondrial intermediate peptidase and the yeast frataxin homolog together maintain mitochondrial iron homeostasis in Saccharomyces cerevisiae. Hum. Molec. Genet. 8: 1099-1110, 1999.
[0021150]11738.Walter, L.; Gunther, E.: Identification of a novel highly conserved gene in the centromeric part of the major histocompatibility complex. Genomics 52: 298-304, 1998.
[0021151]11739.Howell, B. W.; Hawkes, R.; Soriano, P.; Cooper, J. A.: Neuronal position in the developing brain is regulated by mouse disabled-1. Nature 389: 733-737, 1997.
[0021152]11740.Lambert de Rouvroit, C.; Goffinet, A. M.: Cloning of human DAB1 and mapping to chromosome 1p31-p32. Genomics 53: 246-247, 1998.
[0021153]11741.Sheldon, M.; Rice, D. S.; D'Arcangelo, G.; Yoneshima, H.; Nakajima, K.; Mikoshiba, K.; Howell, B. W.; Cooper, J. A.; Goldwitz, D.; Curran, T.: Scrambler and yotari disrupt the disabled gene and produce a reeler-like phenotype in mice. Nature 389: 730-733, 1997.
[0021154]11742.Ware, M. L.; Fox, J. W.; Gonzalez, J. L.; Davis, N. M.; Lambert de Rouvroit, C.; Russo, C. J.; Chua, S. C., Jr.; Goffinet, A. M.; Walsh, C. A.: Aberrant splicing of a mouse disabled homolog, mdab1, in the scrambler mouse. Neuron 19: 239-249, 1997.
[0021155]11743.Liu, J.; Dalmau, J.; Szabo, A.; Rosenfeld, M.; Huber, J.; Furneaux, H.: Paraneoplastic encephalomyelitis antigens bind to the AU-rich elements of mRNA. Neurology 45: 544-550, 1995.
[0021156]11744.Sakai, K.; Gofuku, M.; Kitagawa, Y.; Ogasawara, T.; Hirose, G.; Yamazaki, M.; Koh, C.-S.; Yanagisawa, N.; Steinman, L.: A hippocampal protein associated with paraneoplastic neurologic syndrome and small cell lung carcinoma. Biochem. Biophys. Res. Commun. 199: 1200-1208, 1994.
[0021157]11745.Van Tine, B. A.; Knops, J. F.; Butler, A.; Deloukas, P.; Shaw, G. M.; King, P. H.: Localization of HuC (ELAVL3) to chromosome 19p13.2 by fluorescence in situ hybridization utilizing a novel tyramide labeling technique. Genomics 53: 296-299, 1998.
[0021158]11746.Whitmore, T. E.; Maurer, M. F.; Sexson, S.; Raymond, F.; Conklin, D.; Deisher, T. A.: Assignment of fibroblast growth factor 18 (FGF18) to human chromosome 5q34 by use of radiation hybrid mapping and fluorescence in situ hybridization. Cytogenet. Cell Genet. 90: 231-233, 2000.
[0021159]11747.Sherrington, R.; Rogaev, E. I.; Liang, Y.; Rogaeva, E. A.; Levesque, G.; Ikeda, M.; Chi, H.; Lin, C.; Li, G.; Holman, K.; Tsuda, T.; Mar.; and 21 others: Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature 375: 754-760, 1995.
[0021160]11748.Verdi, J. M.; Bashirullah, A.; Goldhawk, D. E.; Kubu, C. J.; Jamali, M.; Meakin, S. O.; Lipshitz, H. D.: Distinct human NUMB isoforms regulate differentiation vs. proliferation in the neuronal lineage. Proc. Nat. Acad. Sci. 96: 10472-10476, 1999.
[0021161]11749.Zhong, W.; Feder, J. N.; Jiang, M.-M.; Jan, L. Y.; Jan, Y. N.: Asymmetric localization of a mammalian Numb homolog during mouse cortical neurogenesis. Neuron 17: 43-53, 1996.
[0021162]11750.Thresher, R. J.; Vitaterna, M. H.; Miyamoto, Y.; Kazantsev, A.; Hsu, D. S.; Petit, C.; Selby, C. P.; Dawut, L.; Smithies, O.; Takahashi, J. S.; Sancar, A.: Role of mouse cryptochrome bluelight photoreceptor in circadian photoresponses. Science 282: 1490-1494, 1998.
[0021163]11751.Strehl, S.; LaSalle, J. M.; Lalande, M.: High-resolution analysis of DNA replication domain organization across an R/G-band boundary. Molec. Cell. Biol. 17: 6157-6166, 1997.
[0021164]11752.Chow, V. T. K.; Lee, S. S.: DENN, a novel human gene differentially expressed in normal and neoplastic cells. DNA Seq. 6: 263-273, 1996.
[0021165]11753.Chow, V. T. K.; Lim, K. M.; Lim, D.: The human DENN gene: genomic organization, alternative splicing, and localization to chromosome 11p11.21-p11.22. Genome 41: 543-552, 1998.
[0021166]11754.Peyrard, M.; Seroussi, E.; Sandberg-Nordqvist, A.-C.; Xie, Y.-G.; Han, F.-Y.; Fransson, I.; Collins, J.; Dunham, I.; Kost-Alimova, M.; Imreh, S.; Dumanski, J. P.: The human LARGE gene from 22q12.3-q13.1 is a new, distinct member of the glycosyltransferase gene family. Proc. Nat. Acad. Sci. 96: 598-603, 1999.
[0021167]11755.McKusick, V. A.: Personal Communication. Baltimore, Md. 1/1/2000.
[0021168]11756.Mykkanen, J.; Torrents, D.; Pineda, M.; Camps, M.; Yoldi, M. E.; Horelli-Kuitunen, N.; Huoponen, K.; Heinonen, M.; Oksanen, J.; Simell, O.; Savontaus, M.-L.; Zorzano, A.; Palacin, M.; Aula, P.: Functional analysis of novel mutations in y+LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI). Hum. Molec. Genet. 9: 431-438, 2000.
[0021169]11757.Noguchi, A.; Shoji, Y.; Koizumi, A.; Takahashi, T.; Shoji, Y.; Matsumori, M.; Kayo, T.; Ohata, T.; Wada, Y.; Yoshimura, I.; Maisawa, S.; Konishi, M.; Takasago, Y.; Takada, G.: SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families. Hum. Mutat. 15: 367-372, 2000.
[0021170]11758.Rosenfeld, J.; Sloan-Brown, K.; George, A. L., Jr.: A novel muscle sodium channel mutation causes painful congenital myotonia. Ann. Neurol. 42: 811-814, 1997.
[0021171]11759.Gerlai, R.; Roder, J. C.; Hampson, D. R.: Altered spatial learning and memory in mice lacking the mGluR4 subtype of metabotropic glutamate receptor. Behav. Neurosci. 112: 525-532, 1998.
[0021172]11760.Chatterjee, T. K.; Eapen, A.; Kanis, A. B.; Fisher, R. A.: Genomic organization, 5-prime-flanking region, and chromosomal localization of the human RGS3 gene. Genomics 45: 429-433, 1997.
[0021173]11761.Druey, K. M.; Blumer, K. J.; Kang, V. H.; Kehrl, J. H.: Inhibition of G-proteinmediated MAP kinase activation by a new mammalian gene family. Nature 379: 742-746, 1996.
[0021174]11762.Oettgen, P.; Alani, R. M.; Barcinski, M. A.; Brown, L.; Akbarali, Y.; Boltax, J.; Kunsch, C.; Munger, K.; Liebermann, T. A.: Isolation and characterization of a novel epithelium-specific transcription factor, ESE-1, a member of the Ets family. Molec. Cell. Biol. 17: 4419-4433, 1997.
[0021175]11763.Oettgen, P.; Barcinski, M.; Boltax, J.; Stolt, P.; Akbarali, Y.; Libermann, T. A.: Genomic organization of the human ELF3 (ESE-1/ESX) gene, a member of the Ets transcription factor family, and identification of a functional promoter. Genomics 55: 358-362, 1999.
[0021176]11764.Oettgen, P.; Carter, K. C.; Augustus, M.; Barcinski, M.; Boltax, J.; Kunsch, C.; Libermann, T. A.: The novel epithelial-specific Ets transcription factor gene ESX maps to human chromosome 1q32.1. Genomics 45: 456-457, 1997.
[0021177]11765.Lunn, C. A.; Fan, X.; Dalie, B.; Miller, K.; Zavodny, P. J.; Narula, S. K.; Lundell, D.: Purification of ADAM 10 from bovine spleen as a TNFalpha convertase. FEBS Lett. 400: 333-335, 1997.
[0021178]11766.Tymms, M. J.; Ng, A. Y. N.; Thomas, R. S.; Schutte, B. C.; Zhou, J.; Eyre, H. J.; Sutherland, G. R.; Seth, A.; Rosenberg, M.; Papas, T.; Debouck, C.; Kola, I.: A novel epithelial-expressed ETS gene, ELF3: human and murine cDNA sequences, murine genomic organization, human mapping to 1q32.2 and expression in tissues and cancer. Oncogene 15: 2449-2462, 1997.
[0021179]11767.Wolfsberg, T. G.; Primakoff, P.; Myles, D. G.; White, J. M.: ADAM, a novel family of membrane proteins containing a disintegrin and metalloprotease domain: multipotential functions in cellcell and cell-matrix interactions. J. Cell Biol. 131: 275-278, 1995.
[0021180]11768.Yamazaki, K.; Mizui, Y.; Tanaka, I.: Radiation hybrid mapping of human ADAM10 gene to chromosome 15. Genomics 45: 457-459, 1997.
[0021181]11769.Choi, D.-S.; Handa, M.; Young, H.; Gordon, A. S.; Diamond, I.; Messing, R. O.: Genomic organization and expression of the mouse equilibrative, nitrobenzylthioinosine-sensitive nucleoside transporter 1 (ENT1) gene. Biochem. Biophys. Res. Commun. 277: 200-208, 2000.
[0021182]11770.Coe, I. R.; Griffiths, M.; Young, J. D.; Baldwin, S. A.; Cass, C. E.: Assignment of the human equilibrative nucleoside transporter (hENT1) to 6p21.1-p21.2. Genomics 45: 459-460, 1997.
[0021183]11771.Griffiths, M.; Beaumont, N.; Yao, S. Y. M.; Sundaram, M.; Boumah, C. E.; Davies, A.; Kwong, F. Y. P.; Coe, I.; Cass, C. E.; Young, J. D.; Baldwin, S. A.: Cloning of a human nucleoside transporter implicated in the cellular uptake of adenosine and chemotherapeutic drugs. Nature Med. 3: 89-94, 1997.
[0021184]11772.Hu, S.-I.; Carozza, M.; Klein, M.; Nantermet, P.; Luk, D.; Crowl, R. M.: Human HtrA, an evolutionarily conserved serine protease identified as a differentially expressed gene product in osteoarthritic cartilage. J. Biol. Chem. 273: 34406-34412, 1998.
[0021185]11773.Zumbrunn, J.; Trueb, B.: Localization of the gene for a serine protease with IGFbinding domain (PRSS11) to human chromosome 10q25.3-q26.2. Genomics 45: 461-462, 1997.
[0021186]11774.Zumbrunn, J.; Trueb, B.: Primary structure of a putative serine protease specific for IGF-binding proteins. FEBS Lett. 398: 187-192, 1996.
[0021187]11775.Debelenko, L. V.; Emmert-Buck, M. R.; Manickam, P.; Kester, M.-B.; Guru, S. C.; DiFranco, E. M.; Olufemi, S.-E.; Agarwal, S.; Lubensky, I. A.; Zhuang, Z.; Burns, A. L.; Spiegel, A. M.; Liotta, L. A.; Collins, F. S.; Marx, S. J.; Chandrasekharappa, S. C.: Haplotype analysis defines a minimum interval for the multiple endocrine neoplasia type 1 (MEN1) gene. Cancer Res. 57: 1039-1042, 1997.
[0021188]11776.D'Esposito, M.; Strazzullo, M.; Cuccurese, M.; Spalluto, C.; Rocchi, M.; D'Urso, M.; Ciccodicola, A.: Identification and assignment of the human transient receptor potential channel 6 gene TRPC6 to chromosome 11q21-q22. Cytogenet. Cell Genet. 83: 46-47, 1998.
[0021189]11777.Hofmann, T.; Obukhov, A. G.; Schaefer, M.; Harteneck, C.; Gudermann, T.; Schultz, G.: Direct activation of human TRPC6 and TRPC3 channels by diacylglycerol. Nature 397: 259-263, 1999.
[0021190]11778.Garcia, C. K.; Brown, M. S.; Pathak, R. K.; Goldstein, J. L.: cDNA cloning of MCT2, a second monocarboxylate transporter expressed in different cells than MCT1. J. Biol. Chem. 270: 1843-1849, 1995.
[0021191]11779.Lin, R.-Y.; Vera, J. C.; Chaganti, R. S. K.; Golde, D. W.: Human monocarboxylate transporter 2 (MCT2) is a high affinity pyruvate transporter. J. Biol. Chem. 273: 28959-28965, 1998.
[0021192]11780.Ong, O. C.; Hu, K.; Rong, H.; Lee, R. H.; Fung, B. K.-K.: Gene structure and chromosome localization of the G-gamma-c subunit of human cone G-protein (GNGT2). Genomics 44: 101-109, 1997.
[0021193]11781.Ong, O. C.; Yamane, H. K.; Phan, K. B.; Fong, H. K.; Bok, D.; Lee, R. H.; Fung, B. K.-K.: Molecular cloning and characterization of the G protein gamma subunit of cone photoreceptors. J. Biol. Chem. 270: 8495-8500, 1995.
[0021194]11782.Kohlhase, J.; Schuh, R.; Dowe, G.; Kuhnlein, R. P.; Jackle, H.; Schroeder, B.; Schulz-Schaeffer, W.; Kretzschmar, H. A.; Kohler, A.; Muller, U.; Raab-Vetter, M.; Burkhardt, E.; Engel, W.; Stick, R.: Isolation, characterization, and organ-specific expression of two novel human zinc finger genes related to the Drosophila gene spalt. Genomics 38: 291-298, 1996.
[0021195]11783.Park, S. H.; Ryu, S. H.; Suh, P. G.; Kim, H.: Assignment of human PLD2 to chromosome band 17p13.1 by fluorescence in situ hybridization. Cytogenet. Cell Genet. 82: 225 only, 1998.
[0021196]11784.Her, C.; Kaur, G. P.; Athwal, R. S.; Weinshilboum, R. M.: Human sulfotransferase SULT1C1: cDNA cloning, tissue-specific expression, and chromosomal localization. Genomics 41: 467-470, 1997.
[0021197]11785.Keon, B. H.; Schafer, S.; Kuhn, C.; Grund, C.; Franke, W. W.: Symplekin, a novel type of tight junction plaque protein. J. Cell Biol. 134: 1003-1018, 1996.
[0021198]11786.Ueki, K.; Ramaswamy, S.; Billings, S. J.; Mohrenweiser, H. W.; Louis, D. N.: Chromosomal localization to 19q13.3, partial genomic structure and 5-prime cDNA sequence of the human symplekin gene. Somat. Cell Molec. Genet. 23: 229-231, 1997.
[0021199]11787.Pucharcos, C.; Fuentes, J.-J.; Casas, C.; de la Luna, S.; Alcantara, S.; Arbones, M. L.; Soriano, E.; Estivill, X.; Prichard, M.: Alu-splice cloning of human intersectin (ITSN), a putative multivalent binding protein expressed in proliferating and differentiating neurons and overexpressed in Down syndrome. Europ. J. Hum. Genet. 7: 704-712, 1999.
[0021200]11788.Lucking, C. B.; Bonifati, V.; Periquet, M.; Vanacore, N.; Brice, A.; Meco, G.: Pseudodominant inheritance and exon 2 triplication in a family with parkin gene mutations. Neurology 57: 924-927, 2001.
[0021201]11789.Kanezaki, R.; Toki, T.; Yokoyama, M.; Yomogida, K.; Sugiyama, K.; Yamamoto, M.; Igarashi, K.; Ito, E.: Transcription factor BACH1 is recruited to the nucleus by its novel alternative spliced isoform. J. Biol. Chem. 276: 7278-7284, 2001.
[0021202]11790.Shimozawa, N.; Suzuki, Y.; Zhang, Z.; Imamura, A.; Ghaedi, K.; Fujiki, Y.; Kondo, N.: Identification of PEX3 as the gene mutated in a Zellweger syndrome patient lacking peroxisomal remnant structures. Hum. Molec. Genet. 9: 1995-1999, 2000.
[0021203]11791.Katz, P.; Whalen, G.; Kehrl, J. H.: Differential expression of a novel protein kinase in human B lymphocytes: preferential localization in the germinal center. J. Biol. Chem. 269: 16802-16809, 1994.
[0021204]11792.Pombo, C. M.; Kehrl, J. H.; Sanchez, I.; Katz, P.; Avruch, J.; Zon, L. I.; Woodgett, J. R.; Force, T.; Kyriakis, J. M.: Activation of the SAPK pathway by the human STE20 homologue germinal centre kinase. Nature 377: 750-754, 1995.
[0021205]11793.Ren, M.; Zeng, J.; De Lemos-Chiarandini, C.; Rosenfeld, M.; Adesnik, M.; Sabatini, D. D.: In its active form, the GTP-binding protein rab8 interacts with a stress-activated protein kinase. Proc. Nat. Acad. Sci. 93: 5151-5155, 1996.
[0021206]11794.Bonthron, D. T.; Hayward, B. E.; Moran, V.; Strain, L.: Characterization of TH1 and CTSZ, two non-imprinted genes downstream of GNAS1 in chromosome
[0021207]20q13.Hum. Genet. 107: 165-175, 2000.
[0021208]11795.Santamaria, I.; Velasco, G.; Pendas, A. M.; Fueyo, A.; Lopez-Otin, C.: Cathepsin Z, a novel human cysteine proteinase with a short propeptide domain and a unique chromosomal location. J. Biol. Chem. 273: 16816-16823, 1998.
[0021209]11796.Jacquemin, P.; Chen, Z.; Martial, J. A.; Davidson, I.: Genomic structure and chromosomal mapping of the mouse transcription factor TEF-5 (Tead3) gene. Mammalian Genome 10: 632-634, 1999.
[0021210]11797.Sparks, A. B.; Hoffman, N. G.; McConnell, S. J.; Fowlkes, D. M.; Kay, B. K.: Cloning of ligand targets: systematic isolation of SH3 domain-containing proteins. Nature Biotech. 14: 741-744, 1996.
[0021211]11798.Blau, N.; Niederwieser, A.; Shmerling, D. H.: Peptiduria presumably caused by aminopeptidase-P deficiency: a new inborn error of metabolism. J. Inherit. Metab. Dis. 11 (suppl): 240-242, 1988.
[0021212]11799.Cottrell, G. S.; Hooper, N. M.; Turner, A. J.: Cloning, expression, and characterization of human cytosolic aminopeptidase P: a single manganese(II)-dependent enzyme. Biochemistry 39: 15121-15128, 2000.
[0021213]11800.Sprinkle, T. J.; Caldwell, C.; Ryan, J. W.: Cloning, chromosomal sublocalization of the human soluble aminopeptidase P gene (XPNPEP1) to 10q25.3 and conservation of the putative proton shuttle and metal ligand binding sites with XPNPEP2. Arch. Biochem. Biophys. 378: 51-56, 2000.
[0021214]11801.Vanhoof, G.; Goossens, F.; Juliano, M. A.; Juliano, L.; Hendriks, D.; Schatteman, K.; Lin, A. H.; Scharpe, S.: Isolation and sequence analysis of a human cDNA clone (XPNPEPL) homologous to X-prolyl aminopeptidase (aminopeptidase P). Cytogenet. Cell Genet. 78: 275-280, 1997.
[0021215]11802.Vergas Romero, C.; Neudorfer, I.; Mann, K.; Schafer, W.: Purification and amino acid sequence of aminopeptidase P from pig kidney. Europ. J. Biochem. 229: 262-269, 1995.
[0021216]11803.Veugelers, M.; Vermeesch, J.; Reekmans, G.; Steinfeld, R.; Marynen, P.; David, G.: Characterization of glypican-5 and chromosomal localization of human GPC5, a new member of the glypican gene family. Genomics 40: 24-30, 1997.
[0021217]11804.Hegele, R. A.; Connelly, P. W.; Scherer, S. W.; Hanley, A. J. G.; Harris, S. B.; Tsui, L.-C.; Zinman, B.: Paraoxonase-2 gene (PON2) G148 variant associated with elevated fasting plasma glucose in noninsulin-dependent diabetes mellitus. J. Clin. Endocr. Metab. 82: 3373-3377, 1997.
[0021218]11805.Heinecke, J. W.; Lusis, A. J.: Paraoxonase-gene polymorphisms associated with coronary heart disease: support for the oxidative damage hypothesis? (Letter) Am. J. Hum. Genet. 62: 20-24, 1998.
[0021219]11806.Primo-Parmo, S. L.; Hsu, C.; Law, D. J.; La Du, B. N.: Location and arrangement of three paraoxonase genes: PON1, PON2, and PON3, on human chromosome 7. (Abstract) Am. J. Hum. Genet. 59 (suppl.): A406, 1996.
[0021220]11807.Primo-Parmo, S. L.; Sorenson, R. C.; Teiber, L.; La Du, B. N.: The human serum paraoxonase/arylesterase gene (PON1) is one member of multigene family. Genomics 33: 498-507, 1996.
[0021221]11808.Prochazka, M.; Thompson, D. B.; Scherer, S. W.; Tsui, L.-C.; Knowler, W. C.; Bennett, P. H.; Bogardus, C.: Linkage and association of insulin resistance and NIDDM with markers at 7q21.3-q22.1 in the Pima Indians. (Abstract) Diabetes 44 (suppl.): 42A, 1995.
[0021222]11809.Sanghera, D. K.; Aston, C. E.; Saha, N.; Kamboh, M. I.: DNA polymorphisms in two paraoxonase genes (PON1 and PON2) are associated with the risk of coronary heart disease. Am. J. Hum. Genet. 62: 36-44, 1998.
[0021223]11810.Chang, H. Y.; Nishitoh, H.; Yang, X.; Ichijo, H.; Baltimore, D. : Activation of apoptosis signal-regulating kinase 1 (ASK1) by the adapter protein Daxx. Science 281: 1860-1863, 1998.
[0021224]11811.Geleziunas, R.; Xu, W.; Takeda, K.; Ichijo, H.; Greene, W. C.: HIV-1 Nef inhibits ASK1-dependent death signalling providing a potential mechanism for protecting the infected host cell. Nature 410: 834-838, 2001.
[0021225]11812.Ichijo, H.; Nishida, E.; Irie, K.; ten Dijke, P.; Saitoh, M.; Moriguchi, T.; Takagi, M.; Matsumoto, K.; Miyazono, K.; Gotoh, Y.: Induction of apoptosis by ASK1, a mammalian MAPKKK that activates SAPK/JNK and p38 signaling pathways. Science 275: 90-94, 1997.
[0021226]11813.Nishitoh, H.; Saitoh, M.; Mochida, Y.; Takeda, K.; Nakano, H.; Rothe, M.; Miyazono, K.; Ichijo, H.: ASK1 is essential for JNK/SAPK activation by TRAF2. Molec. Cell 2: 389-395, 1998.
[0021227]11814.Lucking, C. B.; Durr, A.; Bonifati, V.; Vaughan, J.; De Michele, G.; Gasser, T.; Harhangi, B. S.; Meco, G.; Denefle, P.; Wood, N. W.; Agid, Y.; Brice, A.: Association between earlyonset Parkinson's disease and mutations in the parkin gene. New Eng. J. Med. 342: 1560-1567, 2000.
[0021228]11815.Nisipeanu, P.; Inzelberg, R.; Mouch, S. A.; Carasso, R. L.; Blumen, S. C.; Zhang, J.; Matsumine, H.; Hattori, N.; Mizuno, Y.: Parkin gene causing benign autosomal recessive juvenile parkinsonism. Neurology 56: 1573-1575, 2001.
[0021229]11816.Shimura, H.; Hattori, N.; Kubo, S.; Mizuno, Y.; Asakawa, S.; Minoshima, S.; Shimizu, N.; Iwai, K.; Chiba, T.; Tanaka, K.; Suzuki, T.: Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase. Nature Genet. 25: 302-305, 2000.
[0021230]11817.Periquet, M.; Lucking, C. B.; Vaughan, J. R.; Bonifati, V.; Durr, A.; De Michele, G.; Horstink, M. W.; Farrer, M.; Illarioshkin, S. N.; Pollak, P.; Borg, M.; Brefel-Courbon, C.; Denefle, P.; Meco, G.; Gasser, T.; Breteler, M. M. B.; Wood, N. W.; Agid, Y.; Brice, A.; French Parkinson's Disease Genetics Study Group; European Consortium on Genetic Susceptibility in Parkinson's Diseases: Origin of mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from founder effects. Am. J. Hum. Genet. 68: 617-626, 2001.
[0021231]11818.Tomac, A. C; Hoffer, B. J.: Assignment of the mouse Park2 (PARKIN), the homologue to a new human Parkinson candidate gene, to the telomeric region of mouse 17A3.2-3.3, by in situ hybridization. Cytogenet. Cell Genet. 95: 120-121, 2001.
[0021232]11819.Zhang, Y.; Gao, J.; Chung, K. K. K.; Huang, H.; Dawson, V. L.; Dawson, T. M.: Parkin functions as an E2-dependent ubiquitin-protein ligase and promotes the degradation of the synaptic vesicle-associated protein, CDCrel-1. Proc. Nat. Acad. Sci. 97: 13354-13359, 2000.
[0021233]11820.Tomasetto, C.; Regnier, C.; Moog-Lutz, C.; Mattei, M. G.; Chenard, M. P.; Lidereau, R.; Basset, P.; Rio, M. C.: Identification of four novel human genes amplified and overexpressed in breast carcinoma and localized to the q11-q21.3 region of chromosome 17. Genomics 28: 367-376, 1995.
[0021234]11821.Chalmers, I. J.; Hofler, H.; Atkinson, M. J.: Mapping of a cadherin gene cluster to a region of chromosome 5 subject to frequent allelic loss in carcinoma. Genomics 57: 160-163, 1999.
[0021235]11822.Suzuki, S.; Sano, K.; Tanihara, H.: Diversity of the cadherin family: evidence for eight new cadherins in nervous tissue. Cell Regul. 2: 261-270, 1991.
[0021236]11823.Shimoyama, Y.; Gotoh, M.; Terasaki, T.; Kitajima, M.; Hirohashi, S.: Isolation and sequence analysis of human cadherin-6 complementary DNA for the full coding sequence and its expression in human carcinoma cells. Cancer Res. 55: 2206-2211, 1995.
[0021237]11824.Anderson, L. V. B.; Davison, K.; Moss, J. A.; Young, C.; Cullen, M. J.; Walsh, J.; Johnson, M. A.; Bashir, R.; Britton, S.; Keers, S.; Argov, Z.; Mahjneh, I.; Fougerousse, F.; Beckmann, J. S.; Bushby, K. M. D.: Dysferlin is a plasma membrane protein and is expressed early in human development. Hum. Molec. Genet. 8: 855-861, 1999.
[0021238]11825.Vaz, F. M.; van Gool, S.; Ofman, R.; Ijlst, L.; Wanders, R. J. A.: Carnitine biosynthesis: identification of the cDNA encoding human gamma-butyrobetaine hydroxylase. Biochem. Biophys. Res. Commun. 250: 506-510, 1998.
[0021239]11826.Gong, B.; Almasan, A.: Genomic organization and transcriptional regulation of human Apo2/TRAIL gene. Biochem. Biophys. Res. Commun. 278: 747-752, 2000.
[0021240]11827.Ohira, M.; Seki, N.; Nagase, T.; Ishikawa, K.; Nomura, N.; Ohara, O.: Characterization of a human homolog (BACH1) of the mouse Bach1 gene encoding a BTB-basic leucine zipper transcription factor and its mapping to chromosome 21q22.1. Genomics 47: 300-306, 1998.
[0021241]11828.Oyake, T.; Itoh, K.; Motohashi, H.; Hayashi, N.; Hoshino, H.; Nishizawa, M.; Yamamoto, M.; Igarashi, K.: Bach proteins belong to a novel family of BTB-basic leucine zipper transcription factors that interact with MafK and regulate transcription through the NF-E2 site. Molec. Cell. Biol. 16: 6083-6095, 1996.
[0021242]11829.Nothwang, H. G.; Rensing, C.; Kubler, M.; Denich, D.; Brandl, B; Stubanus, M.; Haaf, T.; Kurnit, D.; Hildebrandt, F.: Identification of a novel Ran binding protein 2 related gene (RANBP2L1) and detection of a gene cluster on human chromosome 2q11-q12. Genomics 47: 383-392, 1998.
[0021243]11830.Ghanshani, S.; Coleman, M.; Gustavsson, P.; Wu, A. C.-L.; Gargus, J. J.; Gutman, G. A.; Dahl, N.; Mohrenweiser, H.; Chandy, K. G.: Human calcium-activated potassium channel gene KCNN4 maps to chromosome 19q13.2 in the region deleted in Diamond-Blackfan anemia. Genomics 51: 160-161, 1998.
[0021244]11831.Ishii, T. M.; Silvia, C.; Hirschberg, B.; Bond, C. T.; Adelman, J. P.; Maylie, J.: A human intermediate conductance calcium-activated potassium channel. Proc. Nat. Acad. Sci. 94: 11651-11656, 1997.
[0021245]11832.Joiner, W. J.; Wang, L.-Y.; Tang, M. D.; Kaczmarek, L. K.: hSK4, a member of a novel subfamily of calcium-activated potassium channels. Proc. Nat. Acad. Sci. 94: 11013-11018, 1997.
[0021246]11833.Logsdon, N. J.; Kang, J.; Togo, J. A.; Christian, E. P.; Aiyar, J.: A novel gene, hKCa4, encodes the calcium-activated potassium channel in human T lymphocytes. J. Biol. Chem. 272: 32723-32726, 1997.
[0021247]11834.Matsuoka, H.; Iwata, N.; Ito, M.; Shimoyama, M.; Nagata, A.; Chihara, K.; Takai, S.; Matsui, T.: Expression of a kinase-defective Eph-like receptor in the normal human brain. Biochem. Biophys. Res. Commun. 235: 487-492, 1997.
[0021248]11835.Tang, X. X.; Zhao, H.; Robinson, M. E.; Cohen, B.; Cnaan, A.; London, W.; Cohn, S. L.; Cheung, N.-K. V.; Brodeur, G. M.; Evans, A. E.; Ikegaki, N.: Implications of EPHB6, EFNB2, and EFNB3 expressions in human neuroblastoma. Proc. Nat. Acad. Sci. 97: 10936-10941, 2000.
[0021249]11836.Meyers, R.; Cantley, L. C.: Cloning and characterization of a wortmannin-sensitive human phosphatidylinositol 4-kinase. J. Biol. Chem. 272: 4384-4390, 1997.
[0021250]11837.Nakanishi, S.; Catt, K. J.; Balla, T.: A wortmannin-sensitive phosphatidylinositol 4-kinase that regulates hormone-sensitive pools of inositolphospholipids. Proc. Nat. Acad. Sci. 92: 5317-5321, 1995.
[0021251]11838.Saito, T.; Seki, N.; Ishii, H.; Ohira, M.; Hayashi, A.; Kozuma, S.; Hori, T.: Complementary DNA cloning and chromosomal mapping of a novel phosphatidylinositol kinase gene. DNA Res. 4: 301-305, 1997.
[0021252]11839.Suzuki, K.; Hirano, H.; Okutomi, K.; Suzuki, M.; Kuga, Y.; Fujiwara, T.; Kanemoto, N.; Isono, K.; Horie, M.: Identification and characterization of a novel human phosphatidylinositol 4-kinase. DNA Res. 4: 273-280, 1997.
[0021253]11840.Miura, Y.; Miyake, K.; Yamashita, Y.; Shimazu, R.; Copeland, N. G.; Gilbert, D. J.; Jenkins, N. A.; Inazawa, J.; Abe, T.; Kimoto, M.: Molecular cloning of a human RP105 homologue and chromosomal localization of the mouse and human RP105 genes (Ly64 and LY64). Genomics 38: 299-304, 1996.
[0021254]11841.Miura, Y.; Shimazu, R.; Miyake, K.; Akashi, S.; Ogata, H.; Yamashita, Y.; Narisawa, Y.; Kimoto, M.: RP105 is associated with MD-1 and transmits an activation signal in human B cells. Blood 92: 2815-2822, 1998.
[0021255]11842.Herbarth, B.; Pingault, V.; Bondurand, N.; Kuhlbrodt, K.; Hermans-Borgmeyer, I.; Puliti, A.; Lemort, N.; Goossens, M.; Wegner, M.: Mutation of the Sry-related Sox10 gene in dominant megacolon, a mouse model for human Hirschsprung disease. Proc. Nat. Acad. Sci. 95: 5161-5165, 1998.
[0021256]11843.Khong, H. T.; Rosenberg, S. A.: The Waardenburg syndrome type 4 gene, SOX10, is a novel tumor-associated antigen identified in a patient with a dramatic response to immunotherapy. Cancer Res. 62: 3020-3023, 2002.
[0021257]11844.Kuhlbrodt, K.; Herbarth, B.; Sock, E.; Hermans-Borgmeyer, I.; Wegner, M.: Sox10, a novel transcriptional modulator in glial cells. J. Neurosci. 18: 237-250, 1998.
[0021258]11845.Kuhlbrodt, K.; Schmidt, C.; Sock, E.; Pingault, V.; Bondurand, N.; Goossens, M.; Wegner, M.: Functional analysis of Sox10 mutations found in human Waardenburg-Hirschsprung patients. J. Biol. Chem. 273: 23033-23038, 1998.
[0021259]11846.Thompson, C. C.; Bottcher, M. C.: The product of a thyroid hormone-responsive gene interacts with thyroid hormone receptors. Proc. Nat. Acad. Sci. 94: 8527-8532, 1997.
[0021260]11847.Zlotogorski, A.; Ahmad, W.; Christiano, A. M.: Congenital atrichia in five Arab Palestinian families resulting from a deletion mutation in the human hairless gene. Hum. Genet. 103: 400-404, 1998.
[0021261]11848.Ando, A.; Kikuti, Y. Y.; Abe, K.; Shigenari, A.; Kawata, H.; Ikemura, T.; Kimura, M.; Inoko, H.: cDNA cloning, northern hybridization, and mapping analysis of a putative GDS-related protein gene at the centromeric ends of the human and mouse MHC regions. Immunogenetics 49: 354-356, 1999.
[0021262]11849.Isomura, M.; Okui, K.; Fujiwara, T.; Shin, S.; Nakamura, Y.: Isolation and mapping of RAB2L, a human cDNA that encodes a protein homologous to RalGDS. Cytogenet. Cell Genet. 74: 263-265, 1996.
[0021263]11850.Pirozzi, G.; McConnell, S. J.; Uveges, A. J.; Carter, J. M.; Sparks, A. B.; Kay, B. K.; Fowlkes, D. M.: Identification of novel human WW domain-containing proteins by cloning of ligand targets. J. Biol. Chem. 272: 14611-14616, 1997.
[0021264]11851.Chidambaram, A.; Allikmets, R.; Chandrasekarappa, S.; Guru, S. C.; Modi, W.; Gerrard, B.; Dean, M.: Characterization of a human homolog (OVOL1) of the Drosophila ovo gene, which maps to chromosome 11q13. Mammalian Genome 8: 950-951, 1997.
[0021265]11852.Motoki, K.; Megahed, M.; LaForgia, S.; Uitto, J.: Cloning and chromosomal mapping of mouse ladinin, a novel basement membrane zone component. Genomics 39: 323-330, 1997.
[0021266]11853.Chambers, J. A.; Gardner, E.; Hauptmann, R.; Ponder, B. A.; Mulligan, L. M.: TaqI polymorphisms at the annexin VIII locus (ANX8). Hum. Molec. Genet. 1: 550 only, 1992.
[0021267]11854.Chang, K.-S.; Wang, G.; Freireich, E. J.; Daly, M.; Naylor, S. L.; Trujillo, J. M.; Stass, S. A.: Specific expression of the annexin VIII gene in acute promyelocytic leukemia. Blood 79: 1802-1810, 1992.
[0021268]11855.Fernandez, M. P.; Copeland, N. G.; Gilbert, D. J.; Jenkins, N. A.; Morgan, R. O.: The genetic origin of mouse annexin VIII. Mammalian Genome 9: 8-14, 1998.
[0021269]11856.Sarkar, A.; Yang, P.; Fan, Y.-H.; Mu, Z. M.; Hauptmann, R.; Adolf, G. R.; Stass, S. A.; Chang, K.-S.: Regulation of the expression of annexin VIII in acute promyelocytic leukemia. Blood 84: 279-286, 1994.
[0021270]11857.Waterham, H. R.; Koster, J.; Romeijn, G. J.; Hennekam, R. C. M.; Vreken, P.; Andersson, H. C.; FitzPatrick, D. R.; Kelley, R. I.; Wanders, R. J. A.: Mutations in the 3-beta-hydroxysterol delta-24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis. Am. J. Hum. Genet. 69: 685-694, 2001.
[0021271]11858.Lechner, C.; Zahalka, M. A.; Giot, J.-F.; Moller, N. P. H.; Ullrich, A.: ERK6, a mitogen-activated protein kinase involved in C2C12 myoblast differentiation. Proc. Nat. Acad. Sci. 93: 4355-4359, 1996.
[0021272]11859.Li, Z.; Jiang, Y.; Ulevitch, R. J.; Han, J.: The primary structure of p38-gamma: a new member of p38 group of MAP kinases. Biochem. Biophys. Res. Commun. 228: 334-340, 1996.
[0021273]11860.Hibi, M.; Lin, A.; Smeal, T.; Minden, A.; Karin, M.: Identification of an oncoproteinand UV-responsive protein kinase that binds and potentiates the c-Jun activation domain. Genes Dev. 7: 2135-2148, 1993.
[0021274]11861.Kallunki, T.; Su, B.; Tsigelny, I.; Sluss, H. K.; Derijard, B.; Moore, G.; Davis, R.; Karin, M.: JNK2 contains a specificity-determining region responsible for efficient c-Jun binding and phosphorylation. Genes Dev. 8: 2996-3007, 1994.
[0021275]11862.Sluss, H. K.; Barrett, T.; Derijard, B.; Davis, R. J.: Signal transduction by tumor necrosis factor mediated by JNK protein kinases. Molec. Cell Biol. 14: 8376-8384, 1994.
[0021276]11863.Mohit, A. A.; Martin, J. H.; Miller, C. A.: p49(3F12) kinase: a novel MAP kinase expressed in a subset of neurons in the human nervous system. Neuron 14: 67-78, 1995.
[0021277]11864.Yang, D. D.; Kuan, C. Y.; Whitmarsh, A. J.; Rincon, M.; Zheng, T. S.; Davis, R. J.; Rakic, P.; Flavell, R. A.: Absence of excitotoxicity-induced apoptosis in the hippocampus of mice lacking the Jnk3 gene. Nature 389: 865-870, 1997.
[0021278]11865.Yoshida, S.; Fukino, K.; Harada, H.; Nagai, H.; Imoto, I.; Inazawa, J.; Takahashi, H.; Teramoto, A.; Emi, M.: The c-Jun NH2-terminal kinase 3 (JNK3) gene: genomic structure, chromosomal assignment, and loss of expression in brain tumors. J. Hum. Genet. 46: 182-187, 2001.
[0021279]11866.Carpenter, N. J.; Filipovich, A.; Blaese, R. M.; Carey, T. L.; Berkel, A. I.: Variable immunodeficiency with abnormal condensation of the heterochromatin of chromosomes 1, 9, and 16. J. Pediat. 112: 757-760, 1988.
[0021280]11867.Sillen, A.; Wadelius, C.; Sundvall, M.; Ahlsten, G.; Gustavson, K. H.: Hyperkalemic periodic paralysis caused by recurring mutation in the adult muscle sodium channel alpha-subunit gene. Genet. Counsel. 7: 267-275, 1996.
[0021281]11868.Tahmoush, A. J.; Schaller, K. L.; Zhang, P.; Hyslop, T.; Heiman-Patterson, T.; Caldwell, J. H.: Muscle sodium channel inactivation defect in paramyotonia congenita with the thr1313-to-met mutation. Neuromusc. Disord. 4: 447-454, 1994.
[0021282]11869.Bunger, M. K.; Wilsbacher, L. D.; Moran, S. M.; Clendenin, C.; Radcliffe, L. A.; Hogenesch, J. B.; Simon, M. C.; Takahashi, J. S.; Bradfield, C. A.: Mop3 is an essential component of the master circadian pacemaker in mammals. Cell 103: 1009-1017, 2000.
[0021283]11870.Ikeda, M.; Nomura, M.: cDNA cloning and tissue-specific expression of a novel basic helix-loop-helix/PAS protein (BMAL1) and identification of alternatively spliced variants with alternative translation initiation site usage. Biochem. Biophys. Res. Commun. 233: 258-264, 1997.
[0021284]11871.Shaw, P. J.; Tononi, G.; Greenspan, R. J.; Robinson, D. F.: Stress response genes protect against lethal effects of sleep deprivation in Drosophila. Nature 417: 287-291, 2002.
[0021285]11872.Wolting, C. D.; McGlade, C. J.: Cloning and chromosomal localization of a new member of the bHLH/PAS transcription factor family. Mammalian Genome 9: 463-468, 1998.
[0021286]11873.Faucheu, C.; Diu, A.; Chan, A. W. E.; Blanchet, A.-M.; Miossec, C.; Herve, F.; Collard-Dutilleul, V.; Gu, Y.; Aldape, R. A.; Lippke, J. A.; Rocher, C.; Su, M. S.-S.; Livingston, D. J.; Hercend, T.; Lalanne, J.-L.: A novel human protease similar to the interleukin-1-beta converting enzyme induces apoptosis in transfected cells. EMBO J. 14: 1914-1922, 1995.
[0021287]11874.Kamens, J.; Paskind, M.; Hugunin, M.; Talanian, R. V.; Allen, H.; Banach, D.; Bump, N.; Hackett, M.; Johnston, C. G.; Li, P.; Mankovich, J. A.; Terranova, M.; Ghayur, T.: Identification and characterization of ICH-2, a novel member of the interleukin-1-beta-converting enzyme family of cysteine proteases. J. Biol. Chem. 270: 15250-15256, 1995.
[0021288]11875.Munday, N. A.; Vaillancourt, J. P.; Ali, A.; Casano, F. J.; Miller, D. K.; Molineaux, S. M.; Yamin, T.-T.; Yu, V. L.; Nicholson, D. W. : Molecular cloning and pro-apoptotic activity of ICE(rel)II and ICE(rel)III, members of the ICE/CED-3 family of cysteine proteases. J. Biol. Chem. 270: 15870-15876, 1995.
[0021289]11876.Wang, S.; Miura, M.; Jung, Y.; Zhu, H.; Li, E.; Yuan, J.: Murine caspase-11, an ICEinteracting protease, is essential for the activation of ICE. Cell 92: 501-509, 1998.
[0021290]11877.Liburd, N.; Ghosh, M.; Riazuddin, S.; Naz, S.; Khan, S.; Ahmed, Z.; Riazuddin, S.; Liang, Y.; Menon, P. S. N.; Smith, T.; Smith, A. C. M.; Chen, K.-S.; Lupski, J. R.; Wilcox, E. R.; Potocki, L.; Friedman, T. B.: Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome. Hum. Genet. 109: 535-541, 2001.
[0021291]11878.Carlomagno, F.; Chang-Claude, J.; Dunning, A. M.; Ponder, B. A. J.: Determination of the frequency of the common 675del5 Nijmegen breakage syndrome mutation in the German population: no association with risk of breast cancer. Genes Chromosomes Cancer 25: 393-395, 1999.
[0021292]11879.Kleier, S.; Herrmann, M.; Wittwer, B.; Varon, R.; Reis, A.; Horst, J.: Clinical presentation and mutation identification in the NBS1 gene in a boy with Nijmegen breakage syndrome. Clin. Genet. 57: 384-387, 2000.
[0021293]11880.Lim, D.-S.; Kim, S.-T.; Xu, B.; Maser, R. S.; Lin, J.; Petrini, J. H. J.; Kastan, M. B.: ATM phosphorylates p95/nbs1 in an S-phase checkpoint pathway. Nature 404: 613-617, 2000.
[0021294]11881.Lombard, D. B.; Guarente, L.: Nijmegen breakage syndrome disease protein and MRE11 at PML nuclear bodies and meiotic telomeres. Cancer Res. 60: 2331-2334, 2000.
[0021295]11882.Maser, R. S.; Zinkel, R.; Petrini, J. H. J.: An alternative mode of translation permits production of a variant NBS1 protein from the common Nijmegen breakage syndrome allele. Nature Genet. 27: 417-421, 2001.
[0021296]11883.Matsuura, S.; Tauchi, H.; Nakamura, A.; Kondo, N.; Sakamoto, S.; Endo, S.; Smeets, D.; Solder, B.; Belohradsky, B. H.; Der Kaloustian, V. M.; Oshimura, M.; Isomura, M.; Nakamura, Y.; Komatsu, K.: Positional cloning of the gene for Nijmegen breakage syndrome. Nature Genet. 19: 179-181, 1998.
[0021297]11884.Skelly, R. H.; Korbonits, M.; Grossman, A.; Besser, G. M.; Monson, J. P.; Geddes, J. F.; Burrin, J. M.: Expression of the pituitary transcription factor Ptx-1, but not that of the trans-activating factor Prop-1, is reduced in human corticotroph adenomas and is associated with decreased alpha-subunit secretion. J. Clin. Endocr. Metab. 85: 2537-2542, 2000.
[0021298]11885.Morgan, R. O.; Bell, D. W.; Testa, J. R.; Fernandez, M.-P.: Human annexin 31 genetic mapping and origin. Gene 227: 33-38, 1999.
[0021299]11886.Morgan, R. O.; Fernandez, M.-P.: Expression profile and structural divergence of novel human annexin 31. FEBS Lett. 434: 300-304, 1998.
[0021300]11887.Liu, X.-Z.; Xia, X. J.; Xu, L. R.; Pandya, A.; Liang, C. Y.; Blanton, S. H.; Brown, S. D. M.; Steel, K. P.; Nance, W. E.: Mutations in connexin31 underlie recessive as well as dominant nonsyndromic hearing loss. Hum. Molec. Genet. 9: 63-67, 2000.
[0021301]11888.Lopez-Bigas, N.; Olive, M.; Rabionet, R.; Ben-David, O.; Martinez-Matos, J. A.; Bravo, O.; Banchs, I.; Volpini, V.; Gasparini, P.; Avraham, K. B.; Ferrer, I.; Arbones, M. L.; Estivill, X.: Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment. Hum. Molec. Genet. 10: 947-952, 2001.
[0021302]11889.Nadler, M. J. S.; Hermosura, M. C.; Inabe, K.; Perraud, A.-L.; Zhu, Q.; Stokes, A. J.; Kurosaki, T.; Kinet, J.-P.; Penner, R.; Scharenberg, A. M.; Fleig, A.: LTRPC7 is a Mg-ATP-regulated divalent cation channel required for cell viability. Nature 411: 590-595, 2001. Note: Erratum Nature 412: 660 only, 2001.
[0021303]11890.Runnels, L. W.; Yue, L.; Clapham, D. E.: TRP-PLIK, a bifunctional protein with kinase and ion channel activities. Science 291: 1043-1047, 2001.
[0021304]11891.Schlingmann, K. P.; Weber, S.; Peters, M.; Nejsum, L. N.; Vitzthum, H.; Klingel, K.; Kratz, M.; Haddad, E.; Ristoff, E.; Dinour, D.; Syrrou, M.; Nielsen, S.; Sassen, M.; Waldegger, S.; Seyberth, H. W.; Konrad, M.: Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family. Nature Genet. 31: 166-170, 2002.
[0021305]11892.Walder, R. Y.; Shalev, H.; Brennan, T. M. H.; Carmi, R.; Elbedour, K.; Scott, D. A.; Hanauer, A.; Mark, A. L.; Patil, S.; Stone, E. M.; Sheffield, V. C.: Familial hypomagnesemia maps to chromosome 9q, not to the X chromosome: genetic linkage mapping and analysis of a balanced translocation breakpoint. Hum. Molec. Genet. 6: 1491-1497, 1997.
[0021306]11893.Brohmann, H.; Pinnecke, S.; Hoyer-Fender, S.: Identification and characterization of new cDNAs encoding outer dense fiber proteins of rat sperm. J. Biol. Chem. 272: 10327-10332, 1997.
[0021307]11894.Scott, A. F.: Personal Communication. Baltimore, Md. 9/10/1997.
[0021308]11895.Shao, X.; Murthy, S.; Demetrick, D. J.; van der Hoorn, F. A.: Human outer dense fiber gene, ODF2, localizes to chromosome 9q34. Cytogenet. Cell Genet. 83: 221-223, 1998.
[0021309]11896.Porteous, S.; Torban, E.; Cho, N.-P.; Cunliffe, H.; Chua, L.; McNoe, L.; Ward, T.; Souza, C.; Gus, P.; Giugliani, R.; Sato, T.; Yun, K.; Favor, J.; Sicotte, M.; Goodyer, P.; Eccles, M.: Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2(1Neu) +/- mutant mice. Hum. Molec. Genet. 9: 1-11, 2000.
[0021310]11897.Bertazzoni, U.; Scovassi, A. I.; Brun, G. M.: Chick-embryo DNA polymerase gamma: identity of gamma-polymerases purified from nuclei and mitochondria. Europ. J. Biochem. 81: 237-248, 1977.
[0021311]11898.Kamath-Loeb, A. S.; Johansson, E.; Burgers, P. M. J.; Loeb, L. A.: Functional interaction between the Werner syndrome protein and DNA polymerase delta. Proc. Nat. Acad. Sci. 97: 4603-4608, 2000.
[0021312]11899.Lestienne, P.: Evidence for a direct role of the DNA polymerase gamma in the replication of the human mitochondrial DNA in vitro. Biochem. Biophys. Res. Commun. 146: 1146-1153, 1987.
[0021313]11900.Lecrenier, N.; van der Bruggen, P.; Foury, F.: Mitochondrial DNA polymerases from yeast to man: a new family of polymerases. Gene 185: 147-152, 1997.
[0021314]11901.Ropp, P. A.; Copeland, W. C.: Cloning and characterization of the human mitochondrial DNA polymerase, DNA polymerase gamma. Genomics 36: 449-458, 1996.
[0021315]11902.Rovio, A.; Tiranti, V.; Bednarz, A. L.; Suomalainen, A.; Spelbrink, J. N.; Lecrenier, N.; Melberg, A.; Zeviani, M.; Poulton, J.; Foury, F.; Jacobs, H. T.: Analysis of the trinucleotide CAG repeat from the human mitochondrial DNA polymerase gene in healthy and diseased individuals. Europ. J. Hum. Genet. 7: 140-146, 1999.
[0021316]11903.Rovio, A. T.; Marchington, D. R.; Donat, S.; Schuppe, H.-S.; Abel, J.; Fritsche, E.; Elliott, D. J.; Laippala, P.; Ahola, A. L.; McNay, D.; Harrison, R. F.; Hughes, B.; and 13 others: Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility. Nature Genet. 29: 261-262, 2001.
[0021317]11904.Lind, B.; van Solinge, W. W.; Schwartz, M.; Thorsen, S.: Splice site mutation in the human protein C gene associated with venous thrombosis: demonstration of exon skipping by ectopic transcript analysis. Blood 82: 2423-2432, 1993.
[0021318]11905.Long, G. L.; Marshall, A.; Gardner, J. C.; Naylor, S. L.: Genes for human vitamin Kdependent plasma proteins C and S are located on chromosomes 2 and 3, respectively. Somat. Cell Molec. Genet. 14: 93-98, 1988.
[0021319]11906.Bamshad, M.; Lin, R. C.; Law, D. J.; Watkins, W. S.; Krakowiak, P. A.; Moore, M. E.; Franceschini, P.; Lala, R.; Holmes, L. B.; Gebuhr, T. C.; Bruneau, B. G.; Schinzel, A.; Seidman, J. G.; Seidman, C. E.; Jorde, L. B.: Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome. Nature Genet. 16: 311-315, 1997.
[0021320]11907.Myohanen, S.; Kauppinen, L.; Wahlfors, J.; Alhonen, L.; Janne, J.: Human spermidine synthase gene: structure and chromosomal localization. DNA Cell Biol. 10: 467-474, 1991.
[0021321]11908.Wahlfors, J.; Alhonen, L.; Kauppinen, L.; Hyvonen, T.; Janne, J.; Eloranta, T. O.: Human spermidine synthase: cloning and primary structure. DNA Cell Biol. 9: 103-110, 1990.
[0021322]11909.Winqvist, R.; Alanen, L.; Grzeschik, K.-H.; Janne, J.; Eloranta, T.: Mapping of DNA sequences for spermidine synthase to human chromosome 1p36-p22 and chromosome 3p14-q21. (Abstract) Cytogenet. Cell Genet. 58: 1865 only, 1991.
[0021323]11910.Agre, P.: Personal Communication. Baltimore, Md. 6/3/1989.
[0021324]11911.Agre, P.; Casella, J. F.; Zinkham, W. H.; McMillan, C.; Bennett, V.: Partial deficiency of erythrocyte spectrin in hereditary spherocytosis. Nature 314: 380-383, 1985.
[0021325]11912.Anderson, R.; Huestis, R. R.; Motulsky, A. G.: Hereditary spherocytosis in the deer mouse: its similarity to the human disease. Blood 15: 491-504, 1960.
[0021326]11913.Barry, M.; Scheuer, P. J.; Sherlock, S.; Ross, C. F.; Williams, R.: Hereditary spherocytosis with secondary haemochromatosis. Lancet II: 481-485, 1968.
[0021327]11914.Bass, E. B.; Smith, S. W., Jr.; Stevenson, R. E.; Rosse, W. F. : Further evidence for location of the spherocytosis gene on chromosome 11915. Ann. Intern. Med. 99: 192-193, 1983. 8. Birkenmeier, C. S.; McFarland-Starr, E. C.; Barker, J. E.: Chromosomal location of three spectrin genes: relationship to the inherited hemolytic anemias of mouse and man. Proc. Nat. Acad. Sci. 85: 8121-8125, 1988.
[0021328]11916.Bodine, D. M., IV; Birkenmeier, C. S.; Barker, J. E.: Spectrin deficient inherited hemolytic anemias in the mouse: characterization by spectrin synthesis and mRNA activity in reticulocytes. Cell 37: 721-729, 1984.
[0021329]11917.Chilcote, R. R.; Le Beau, M. M.; Dampier, C.; Pergament, E.; Verlinsky, Y.; Mohandas, N.; Frischer, H.; Rowley, J. D.: Association of red cell spherocytosis with deletion of the short arm of chromosome 8. Blood 69: 156-159, 1987.
[0021330]11918.Coetzer, T. L.; Lawler, J.; Liu, S.-C.; Prchal, J. T.; Gualtieri, R. J.; Brain, M. C.; Dacie, J. V.; Palek, J.: Partial ankyrin and spectrin deficiency in severe, atypical hereditary spherocytosis. New Eng. J. Med. 318: 230-234, 1988.
[0021331]11919.Cohen, H.; Walker, H.; Delhanty, J. D. A.; Lucas, S. B.; Huehns, E. R.: Congenital spherocytosis, B19 parvovirus infection and inherited interstitial deletion of the short arm of chromosome 8. Brit. J. Haemat. 78: 251-257, 1991.
[0021332]11920.Costa, F. F.; Agre, P.; Watkins, P. C.; Winkelmann, J. C.; Tang, T. K.; John, K. M.; Lux, S. E.; Forget, B. G.: Linkage of dominant hereditary spherocytosis to the gene for the erythrocyte membrane-skeleton protein ankyrin. New Eng. J. Med. 323: 1046-1050, 1990.
[0021333]11921.de Jongh, B. M.; Blacklock, H. A.; Reekers, P.; Volkers, W. S.; Schreuder, G. M. T.; Meera Khan, P.; Bernini, L. F.; Nijenhuis, L. E.; van Loghem, E.; van Rood, J. J.: No evidence of linkage between hereditary spherocytosis (SPH) and genetic markers including HLA and IGHG.(Abstract) Cytogenet. Cell Genet. 32: 263-264, 1982.
[0021334]11922.Duru, F.; Gurgey, A.; Ozturk, G.; Yorukan, S.; Altay, C.: Homozygosity for dominant form of hereditary spherocytosis. Brit. J. Haemat. 82: 596-600, 1992.
[0021335]11923.Croce, C. M.; Isobe, M.; Palumbo, A.; Puck, J.; Ming, J.; Tweardy, D.; Erikson, J.; Davis, M.; Rovera, G.: Gene for alpha-chain of human T-cell receptor: location on chromosome 14 region involved in T-cell neoplasms. Science 227: 1044-1047, 1985.
[0021336]11924.Funke, B.; Epstein, J. A.; Kochilas, L. K.; Lu, M. M.; Pandita, R. K.; Liao, J.; Bauerndistel, R.; Schuler, T.; Schorle, H.; Brown, M. C.; Adams, J.; Morrow, B. E.: Mice overexpressing genes from the 22q11 region deleted in velo-cardio-facial syndrome/DiGeorge syndrome have middle and inner ear defects. Hum. Molec. Genet. 10: 2549-2556, 2001.
[0021337]11925.Guris, D. L.; Fantes, J.; Tara, D.; Druker, B. J.; Imamoto, A. : Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome. Nature Genet. 27: 293-298, 2001.
[0021338]11926.Halford, S.; Wilson, D. I.; Daw, S. C. M.; Roberts, C.; Wadey, R.; Kamath, S.; Wickremasinghe, A.; Burn, J.; Goodship, J.; Mattei, M.-G.; Moorman, A. F. M.; Scambler, P. J.: Isolation of a gene expressed during early embryogenesis from the region of 22q11 commonly deleted in DiGeorge syndrome.. Hum. Molec. Genet. 2: 1577-1582, 1993.
[0021339]11927.Jerome, L. A.; Papaioannou, V. E.: DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. Nature Genet. 27: 286-291, 2001.
[0021340]11928.Dyson, E.; Sucov, H. M.; Kubalak, S. W.; Schmid-Schonbein, G. W.; DeLano, F. A.; Evans, R. M.; Ross, J., Jr.; Chien, K. R.: Atrial-like phenotype is associated with embryonic ventricular failure in retinoid X receptor alpha -/- mice. Proc. Nat. Acad. Sci. 92: 7386-7390, 1995.
[0021341]11929.Gampe, R. T., Jr.; Montana, V. G.; Lambert, M. H.; Miller, A. B.; Bledsoe, R. K.; Milburn, M. V.; Kliewer, S. A.; Willson, T. M.; Xu, H. E.: Asymmetry in the PPAR-gamma/RXR-alpha crystal structure reveals the molecular basis of heterodimerization among nuclear receptors. Molec. Cell 5: 545-555, 2000.
[0021342]11930.Gruber, P. J.; Kubalak, S. W.; Pexieder, T.; Sucov, H. M.; Evans, R. M.; Chien, K. R.: RXR-alpha deficiency confers genetic susceptibility for aortic sac, conotruncal, atrioventricular cushion, and ventricular muscle defects in mice. J. Clin. Invest. 98: 1332-1343, 1996.
[0021343]11931.Heyman, R. A.; Mangelsdorf, D. J.; Dyck, J. A.; Stein, R. B.; Eichele, G.; Evans, R. M.; Thaller, C.: 9-cis retinoic acid is a high affinity ligand for the retinoid X receptor. Cell 68: 397-406, 1992.
[0021344]11932.Hoopes, C. W.; Taketo, M.; Ozato, K.; Liu, Q.; Howard, T. A.; Linney, E.; Seldin, M. F.: Mapping the mouse Rxr loci encoding nuclear retinoid X receptors Rxr-alpha, Rxr-beta, and Rxrgamma. Genomics 14: 611-617, 1992.
[0021345]11933.Jones, K. A.; Fitzgibbon, J.; Woodward, K. J.; Goudie, D.; Ferguson-Smith, M. A.; Povey, S.; Wolfe, J.; Solomon, E.: Localization of the retinoid X receptor alpha gene (RXRA) to chromosome 9q34. Ann. Hum. Genet. 57: 195-201, 1993.
[0021346]11934.Li, M.; Indra, A. K.; Warot, X.; Brocard, J.; Messaddeq, N.; Kato, S.; Metzger, D.; Chambon, P.: Skin abnormalities generated by temporally controlled RXR-alpha mutations in mouse epidermis. Nature 407: 633-636, 2000.
[0021347]11935.Lu, T. T.; Makishima, M.; Repa, J. J.; Schoonjans, K.; Kerr, T. A.; Auwerx, J.; Mangelsdorf, D. J.: Molecular basis for feedback regulation of bile acid synthesis by nuclear receptors. Molec. Cell 6: 507-515, 2000.
[0021348]11936.Mangelsdorf, D. J.; Ong, E. S.; Dyck, J. A.; Evans, R. M.: Nuclear receptor that identifies a novel retinoic acid response pathway. Nature 345: 224-229, 1990.
[0021349]11937.Mangelsdorf, D. J.; Umesono, K.; Kliewer, S. A.; Borgmeyer, U.; Ong, E. S.; Evans, R. M.: A direct repeat in the cellular retinol-binding protein type II gene confers differential regulation by RXR and RAR. Cell 66: 555-561, 1991.
[0021350]11938.Repa, J. J.; Turley, S. D.; Lobaccaro, J.-M. A.; Medina, J.; Li, L.; Lustig, K.; Shan, B.; Heyman, R. A.; Dletschy, J. M.; Mangelsdorf, D. J.: Regulation of absorption and ABC1-mediated efflux of cholesterol by RXR heterodimers. Science 289: 1524-1529, 2000.
[0021351]11939.Tontonoz, P.; Hu, E.; Spiegelman, B. M.: Stimulation of adipogenesis in fibroblasts by PPAR-gamma-2, a lipid-activated transcription factor. Cell 79: 1147-1156, 1994.
[0021352]11940.Willy, P. J.; Umesono, K.; Ong, E. S.; Evans, R. M.; Heyman, R. A.; Mangelsdorf, D. J.: LXR, a nuclear receptor that defines a distinct retinoid response pathway. Genes Dev. 9: 1033-1045, 1995.
[0021353]11941.Wan, Y.-J. Y.; An, D.; Cai, Y.; Repa, J. J.; Chen, T. H.-P.; Flores, M.; Postic, C.; Magnuson, M. A.; Chen, J.; Chien, K. R.; French, S.; Mangelsdorf, D. J.; Sucov, H. M.: Hepatocytespecific mutation establishes retinoid X receptor alpha as a heterodimeric integrator of multiple physiological processes in the liver. Molec. Cell. Biol. 20: 4436-4444, 2000.
[0021354]11942.Zhou, M. D.; Sucov, H. M.; Evans, R. M.; Chien, K. R.: Retinoid-dependent pathways suppress myocardial cell hypertrophy. Proc. Nat. Acad. Sci. 92: 7391-7395, 1995.
[0021355]11943.Graycar, J. L.; Miller, D. A.; Arrick, B. A.; Lyons, R. M.; Moses, H. L.; Derynck, R.: Human transforming growth factor-beta-3: recombinant expression, purification, and biological activities in comparison with transforming growth factors-beta-1 and beta-2. Molec. Endocr. 3: 1977-1986, 1989.
[0021356]11944.Kaartinen, V.; Voncken, J. W.; Shuler, C.; Warburton, D.; Bu, D.; Heisterkamp, N.; Groffen, J.: Abnormal lung development and cleft palate in mice lacking TGF-beta-3 indicates defects of epithelial-mesenchymal interaction. Nature Genet. 11: 415-421, 1995.
[0021357]11945.Lee, B.-S.; Nowak, R. A.: Human leiomyoma smooth muscle cells show increased expression of transforming growth factor-beta-3 (TGF-beta-3) and altered responses to the antiproliferative effects of TGF-beta. J. Clin. Endocr. Metab. 86: 913-920, 2001.
[0021358]11946.Moren, A.; Ichijo, H.; Miyazono, K.: Molecular cloning and characterization of the human and porcine transforming growth factor-beta type III receptors. Biochem. Biophys. Res. Commun. 189: 356-362, 1992.
[0021359]11947.Proetzel, G.; Pawlowski, S. A.; Wiles, M. V.; Yin, M.; Boivin, G. P.; Howles, P. N.; Ding, J.; Ferguson, M. W. J.; Doetschman, T. : Transforming growth factor-beta-3 is required for secondary palate fusion. Nature Genet. 11: 409-414, 1995.
[0021360]11948.ten Dijke, P.; Geurts van Kessel, A. H. M.; Foulkes, J. G.; Le Beau, M. M.: Transforming growth factor type beta-3 maps to human chromosome 14, region q23-q24. Oncogene 3: 721-724, 1988.
[0021361]11949.ten Dijke, P.; Hansen, P.; Iwata, K. K.; Pieler, C.; Foulkes, J. G.: Identification of another member of the transforming growth factor type beta gene family. Proc. Nat. Acad. Sci. 85: 4715-4719, 1988.
[0021362]11950.Luerssen, H.; Mattei, M.-G.; Schroter, M.; Grzeschik, K.-H.; Adham, I. M.; Engel, W.: Nucleotide sequence of the gene for human transition protein 1 and its chromosomal localization on chromosome 2. Genomics 8: 324-330, 1990.
[0021363]11951.Yelick, P. C.; Kozak, C.; Kwon, Y. K.; Seldin, M. F.; Hecht, N. B.: The mouse transition protein 1 gene contains a B1 repetitive element and is located on chromosome 1. Genomics 11: 687-694, 1991.
[0021364]11952.Yu, Y. E.; Zhang, Y.; Unni, E.; Shirley, C. R.; Deng, J. M.; Russell, L. D.; Weil, M. M.; Behringer, R. R.; Meistrich, M. L.: Abnormal spermatogenesis and reduced fertility in transition nuclear protein 1-deficient mice. Proc. Nat. Acad. Sci. 97: 4683-4688, 2000.
[0021365]11953.Engel, W.; Keime, S.; Kremling, H.; Hameister, H.; Schluter, G. : The genes for protamine 1 and 2 (PRM1 and PRM2) and transition protein 2 (TNP2) are closely linked in the mammalian genome. Cytogenet. Cell Genet. 61: 158-159, 1992.
[0021366]11954.Nelson, J. E.; Krawetz, S. A.: Linkage of human spermatid-specific basic nuclear protein genes: definition and evolution of the P1-to-P2-to-TP2 locus. J. Biol. Chem. 268: 2932-2936, 1993.
[0021367]11955.Schluter, G.; Kremling, H.; Engel, W.: The gene for human transition protein 2: nucleotide sequence, assignment to the protamine gene cluster, and evidence for its low expression. Genomics 14: 377-383, 1992.
[0021368]11956.Kim, P. K. M.; Dutra, A. S.; Chandrasekharappa, S. C.; Puck, J. M.: Genomic structure and mapping of human FADD, an intracellular mediator of lymphocyte apoptosis. J. Immun. 157: 5461-5466, 1996.
[0021369]11957.Lavedan, C.; Leroy, E.; Torres, R.; Dehejia, A.; Dutra, A.; Buchholtz, S.; Nussbaum, R. L.; Polymeropoulos, M. H.: Genomic organization and expression of the human beta-synuclein gene (SNCB) Genomics 54: 173-175, 1998.
[0021370]11958.Hymowitz, S. G.; Christinger, H. W.; Fuh, G.; Ultsch, M.; O'Connell, M.; Kelley, R. F.; Ashkenazi, A.; de Vos, A. M.: Triggering cell death: the crystal structure of Apo2L/TRAIL in a complex with death receptor 5. Molec. Cell 4: 563-571, 1999.
[0021371]11959.Nitsch, R.; Bechmann, I.; Deisz, R. A.; Haas, D.; Lehmann, T. N.; Wendling, U.; Zipp, F.: Human brain-cell death induced by tumour-necrosis-factor-related apoptosis-inducing ligand (TRAIL). Lancet 356: 827-828, 2000.
[0021372]11960.Pitti, R. M.; Marsters, S. A.; Ruppert, S.; Donahue, C. J.; Moore, A.; Ashkenazi, A.: Induction of apoptosis by Apo-2 ligand, a new member of the tumor necrosis factor cytokine family. J. Biol. Chem. 271: 12687-12690, 1996.
[0021373]11961.Wiley, S. R.; Schooley, K.; Smolak, P. J.; Din, W. S.; Huang, C.-P.; Nicholl, J. K.; Sutherland, G. R.; Smith, T. D.; Rauch, C.; Smith, C. A.; Goodwin, R. G.: Identification and characterization of a new member of the TNF family that induces apoptosis. Immunity 3: 673-682, 1995.
[0021374]11962.Lyu, M. S.; Park, D. J.; Rhee, S. G.; Kozak, C. A.: Genetic mapping of the human and mouse phospholipase C genes. Mammalian Genome 7: 501-504, 1996.
[0021375]11963.Shimohama, S.; Kamiya, S.; Fujii, M.; Ogawa, T.; Kanamori, M.; Kawamata, J.; Imura, T.; Taniguchi, T.; Yagisawa, H.: Mutation in the pleckstrin homology domain of the human phospholipase C-delta-1 gene is associated with loss of function. Biochem. Biophys. Res. Commun. 245: 722-728, 1998.
[0021376]11964.Iwabuchi, K.; Bartel, P. L.; Li, B.; Marraccino, R.; Fields, S. : Two cellular proteins that bind to wild-type but not mutant p53. Proc. Nat. Acad. Sci. 91: 6098-6102, 1994.
[0021377]11965.Iwabuchi, K.; Li, B.; Massa, H. F.; Trask, B. J.; Date, T.; Fields, S.: Stimulation of p53-mediated transcriptional activation by the p53-binding proteins, 53BP1 and 53BP2. J. Biol. Chem. 273: 26061-26068, 1998.
[0021378]11966.Naumovski, L.; Cleary, M. L.: The p53-binding protein 53BP2 also interacts with Bc12 and impedes cell cycle progression at G2/M. Molec. Cell Biol. 16: 3884-3892, 1996.
[0021379]11967.Samuels-Lev, Y.; O'Connor, D. J.; Bergamaschi, D.; Trigiante, G.; Hsieh, J.-K.; Zhong, S.; Campargue, I.; Naumovski, L.; Crook, T.; Lu, X.: ASPP proteins specifically stimulate the apoptotic function of p53. Molec. Cell 8: 781-794, 2001.
[0021380]11968.Yang, J.-P.; Ono, T.; Sonta, S.; Kawabe, T.; Okamoto, T.: Assignment of p53 binding protein (TP53BP2) to human chromosome band 1q42.1 by in situ hybridization. Cytogenet. Cell Genet. 78: 61-62, 1997.
[0021381]11969.Lamartine, J.; Seri, M.; Cinti, R.; Heitzmann, F.; Creaven, M.; Radomski, N.; Jost, E.; Lenoir, G. M.; Romeo, G.; Sylla, B. S.: Molecular cloning and mapping of a human cDNA (PA2G4) that encodes a protein highly homologous to the mouse cell cycle protein p38-2G4. Cytogenet. Cell Genet. 78: 31-35, 1997.
[0021382]11970.Radomski, N.; Jost, E.: Molecular cloning of a murine cDNA encoding a novel protein, p38-2G4, which varies with the cell cycle. Exp. Cell Res. 220: 434-445, 1995.
[0021383]11971.Crawford, M. J.; Lanctot, C.; Tremblay, J. J.; Jenkins, N.; Gilbert, D.; Copeland, N.; Beatty, B.; Drouin, J.: Human and murine PTX1/Ptx1 gene maps to the region for Treacher Collins syndrome. Mammalian Genome 8: 841-845, 1997.
[0021384]11972.Lamonerie, T.; Tremblay, J. J.; Lanctot, C.; Thierrien, M.; Gauthier, Y.; Drouin, J.: Ptx1, a bicoid-related homeo box transcription factor involved in transcription of the proopiomelanocortin gene. Genes Dev. 10: 1284-1295, 1996.
[0021385]11973.Shang, J.; Li, X.; Ring, H. Z.; Clayton, D. A.; Francke, U.: Backfoot, a novel homeobox gene, maps to human chromosome 5 (BFT) and mouse chromosome 13 (Bft). Genomics 40: 108-113, 1997.
[0021386]11974.Szeto, D. P.; Rodriguez-Esteban, C.; Ryan, A. K.; O'Connell, S. M.; Liu, F.; Kioussi, C.; Gleiberman, A. S.; Izpisua-Belmonte, J. C.; Rosenfeld, M. G.: Role of the Bicoid-related homeodomain factor Pitx1 in specifying hindlimb morphogenesis and pituitary development. Genes Dev. 13: 484-494, 1999.
[0021387]11975.Semina, E. V.; Altherr, M. R.; Murray, J. C.: Cloning and chromosomal localization of two novel human genes encoding LIM-domain binding factors CLIM1 and CLIM2/LDB1/NL1. Mammalian Genome 9: 921-924, 1998.
[0021388]11976.Yamashita, T.; Agulnick, A. D.; Copeland, N. G.; Gilbert, D. J.; Jenkins, N. A.; Westphal, H.: Genomic structure and chromosomal localization of the mouse LIM domain-binding protein 1 gene, Ldb1. Genomics 48: 87-92, 1998.
[0021389]11977.Foley, B. T.; Moehring, J. M.; Moehring, T. J.: Mutations in the elongation factor 2 gene which confer resistance to diphtheria toxin and Pseudomonas exotoxin A: genetic and biochemical analyses. J. Biol. Chem. 270: 23218-23225, 1995.
[0021390]11978.Mattheakis, L. C.; Sor, F.; Collier, R. J.: Diphthamide synthesis in Saccharomyces cerevisiae: structure of the DPH2 gene. Gene 132: 149-154, 1993.
[0021391]11979.Schultz, D. C.; Balasara, B. R.; Testa, J. R.; Godwin, A. K.: Cloning and localization of a human diphthamide biosynthesis-like protein-2 gene, DPH2L2. Genomics 52: 186-191, 1998.
[0021392]11980.Abe, R.; Sakashita, E.; Yamamoto, K.; Sakamoto, H.: Two different RNA binding activities for the AU-rich element and the poly(A) sequence of the mouse neuronal protein mHuC. Nucleic Acids Res. 24: 4895-4901, 1996.
[0021393]11981.Winter, H.; Rogers, M. A.; Gebhardt, M.; Wollina, U.; Boxall, L.; Chitayat, D.; Babul-Hirji, R.; Stevens, H. P.; Zlotogorski, A.; Schweizer, J.: A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix. Hum. Genet. 101: 165-169, 1997.
[0021394]11982.Buckanovich, R. J.; Posner, J. B.; Darnell, R. B.: Nova, the paraneoplastic Ri antigen, is homologous to an RNA-binding protein and is specifically expressed in the developing motor system. Neuron 11: 657-672, 1993.
[0021395]11983.Buckanovich, R. J.; Yang, Y. Y.; Darnell, R. B.: The onconeural antigen Nova-1 is a neuron-specific RNA-binding protein, the activity of which is inhibited by paraneoplastic antibodies. J. Neurosci. 16: 1114-1122, 1996.
[0021396]11984.Prestigiacomo, C. J.; Balmaceda, C.; Dalmau, J.: Anti-Ri-associated paraneoplastic opsoclonus-ataxia syndrome in a man with transitional cell carcinoma: a case report. Cancer 91: 1423-1428, 2001.
[0021397]11985.Muzio, M.; Ni, J.; Feng, P.; Dixit, V. M.: IRAK (Pelle) family member IRAK-2 and MyD88 as proximal mediators of IL-1 signaling. Science 278: 1612-1615, 1997.
[0021398]11986.Takeuchi, O.; Hoshino, K.; Akira, S.: Cutting edge: TLR2-deficient and MyD88-deficient mice are highly susceptible to Staphylococcus aureus infection. J. Immun. 165: 5392-5396, 2000.
[0021399]11987.Eggertsen, G.; Olin, M.; Andersson, U.; Ishida, H.; Kubota, S.; Hellman, U.; Okuda, K.-I.; Bjorkhem, I.: Molecular cloning and expression of rabbit sterol 12-alpha-hydroxylase. J. Biol. Chem. 271: 32269-32275, 1996.
[0021400]11988.Gafvels, M.; Olin, M.; Chowdhary, B. P.; Raudsepp, T.; Andersson, U.; Persson, B.; Jansson, M.; Bjorkhem, I.; Eggertsen, G.: Structure and chromosomal assignment of the sterol 12-alphahydroxylase gene (CYP8B1) in human and mouse: eukaryotic cytochrome P-450 gene devoid of introns. Genomics 56: 184-196, 1999.
[0021401]11989.Zhang, M.; Chiang, J. Y. L.: Transcriptional regulation of the human sterol 12-alphahydroxylase gene (CYP8B1): roles of hepatocyte nuclear factor 4-alpha in mediating bile acid repression. J. Biol. Chem. 276: 41690-41699, 2001.
[0021402]11990.Brinkman, A.; van der Flier, S.; Kok, E. M.; Dorssers, L. C. J. : BCAR1, a human homologue of the adapter protein p130Cas, and antiestrogen resistance in breast cancer cells. J. Nat. Cancer Inst. 92: 112-120, 2000.
[0021403]11991.Brugge, J. S.: Casting light on focal adhesions. Nature Genet. 19: 309-311, 1998.
[0021404]11992.Dorssers, L. C. J.; van Agthoven, T.; Dekker, A.; van Agthoven, T. L. A.; Kok, E. M.: Induction of antiestrogen resistance in human breast cancer cells by random insertional mutagenesis using defective retroviruses: identification of bcar-1, a common integration site. Molec. Endocr. 7: 870-878, 1993.
[0021405]11993.Honda, H.; Oda, H.; Nakamoto, T.; Honda, Z.; Sakai, R.; Suzuki, T.; Saito, T.; Nakamura, K.; Nakao, K.; Ishikawa, T.; Katsuki, M.; Yazaki, Y.; Hirai, H.: Cardiovascular anomaly, impaired actin bundling and resistance to Src-induced transformation in mice lacking p130-Cas. Nature Genet. 19: 361-365, 1998.
[0021406]11994.Kanner, S. B.; Reynolds, A. B.; Wang, H. C.; Vines, R. R.; Parsons, J. T.: The SH2 and SH3 domains of pp60src direct stable association with tyrosine phosphorylated proteins p130 and p110. EMBO J. 10: 1689-1698, 1991.
[0021407]11995.Kuo, C. T.; Morrisey, E. E.; Anandappa, R.; Sigrist, K.; Lu, M. M.; Parmacek, M. S.; Soudais, C.; Leiden, J. M.: GATA4 transcription factor is required for ventral morphogenesis and heart tube formation. Genes Dev. 11: 1048-1060, 1997.
[0021408]11996.Reynolds, A. B.; Kanner, S. B.; Wang, H. C.; Parsons, J. T.: Stable association of activated pp60src with two tyrosine-phosphorylated cellular proteins. Molec. Cell. Biol. 9: 3951-3958, 1989.
[0021409]11997.Sakai, R.; Iwamatsu, A.; Hirano, N.; Ogawa, S.; Tanaka, T.; Mano, H.; Yazaki, Y.; Hirai, H.: A novel signaling molecule, p130, forms stable complexes in vivo with v-Crk and v-Src in a tyrosine phosphorylation-dependent manner. EMBO J. 13: 3748-3756, 1994.
[0021410]11998.van der Flier, S.; Brinkman, A.; Look, M. P.; Kok, E. M.; Meijer-van Gelder, M. E.; Klijn, J. G. M.; Dorssers, L. C. J.; Foekens, J. A. : Bcar1/p130Cas protein and primary breast cancer: prognosis and response to tamoxifen treatment. J. Nat. Cancer Inst. 92: 120-127, 2000.
[0021411]11999.Yoshida, K.; Taga, T.; Saito, M.; Suematsu, S.; Kumanogoh, A.; Tanaka, T.; Fujiwara, H.; Hirata, M.; Yamagami, T.; Nakahata, T.; Hirabayashi, T.; Yoneda, Y.; Tanaka, K.; Wang, W. Z.; Mori, C.; Shiota, K.; Yoshida, N.; Kishimoto, T.: Targeted disruption of gp130, a common signal transducer for the interleukin 6 family of cytokines, leads to myocardial and hematological disorders. Proc. Nat. Acad. Sci. 93: 407-411, 1996.
[0021412]12000.Soengas, M. S.; Capodieci, P.; Polsky, D.; Mora, J.; Esteller, M.; Opitz-Araya, X.; McCombie, R.; Herman, J. G.; Gerald, W. L.; Lazebnik, Y. A.; Cordon-Cardo, C.; Lowe, S. W.: Inactivation of the apoptosis effector Apaf-1 in malignant melanoma. Nature 409: 207-211, 2001.
[0021413]12001.Srinivasula, S. M.; Ahmad, M.; Fernandes-Alnemri, T.; Alnemri, E. S.: Autoactivation of procaspase-9 by Apaf-1-mediated oligomerization. Molec. Cell 1: 949-957, 1998.
[0021414]12002.Yoshida, H.; Kong, Y.-Y.; Yoshida, R.; Elia, A. J.; Hakem, A.; Hakem, R.; Penninger, J. M.; Mak, T. W.: Apaf1 is required for mitochondrial pathways of apoptosis and brain development. Cell 94: 739-750, 1998.
[0021415]12003.Zou, H.; Henzel, W. J.; Liu, X.; Lutschg, A.; Wang, X.: APAF-1, a human protein homologous to C. elegans CED-4, participates in cytochrome c-dependent activation of caspase-3. Cell 90: 405-413, 1997.
[0021416]12004.Niederreither, K.; Abu-Abed, S.; Schuhbaur, B.; Petkovich, M.; Chambon, P.; Dolle, P.: Genetic evidence that oxidative derivatives of retinoic acid are not involved in retinoid signaling during mouse development. Nature Genet. 31: 84-88, 2002.
[0021417]12005.White, J. A.; Beckett, B.; Scherer, S. W.; Herbrick, J.-A.; Petkovich, M.: P450RAI (CYP26A) maps to human chromosome 10q23-q24 and mouse chromosome 19C2-3. Genomics 48: 270-272, 1998.
[0021418]12006.White, J. A.; Beckett-Jones, B.; Guo, Y.-D.; Dilworth, F. J.; Bonasoro, J.; Jones, G.; Petkovich, M.: cDNA cloning of human retinoic acid-metabolizing enzyme (hP450RAI) identifies a novel family of cytochromes P450 (CYP26). J. Biol. Chem. 272: 18538-18541, 1997.
[0021419]12007.Beutler, E.; Gelbart, T.; West, C.; Kuhl, W.; Lee, P.: A strategy for cloning the hereditary hemochromatosis gene. Blood Cells Molec. Dis. 21: 207-216, 1995.
[0021420]12008.Chardin, P.; Paris, S.; Antonny, B.; Robineau, S.; Beraud-Dufour, S.; Jackson, C. L.; Chabre, M.: A human exchange factor for ARF contains Sec7- and pleckstrin-homology domains. Nature 384: 481-484, 1996.
[0021421]12009.Perletti, L.; Talarico, D.; Trecca, D.; Ronchetti, D.; Fracchiolla, N. S.; Maiolo, A. T.; Neri, A.: Identification of a novel gene, PSD, adjacent to NFKB2/lyt-10, which contains Sec7 and pleckstrin-homology domains. Genomics 46: 251-259, 1997.
[0021422]12010.Biunno, I.; Appierto, V.; Cattaneo, M.; Leone, B. E.; Balzano, G.; Socci, C.; Saccone, S.; Letizia, A.; Valle, G. D.; Sgaramella, V.: Isolation of a pancreas-specific gene located on human chromosome 14q31: expression analysis in human pancreatic ductal carcinomas. Genomics 46: 284-286, 1997.
[0021423]12011.Donoviel, D. B.; Bernstein, A.: SEL-1L maps to human chromosome 14, near the insulin-dependent diabetes mellitus locus 11. Genomics 56: 232-233, 1999.
[0021424]12012.Grant, B.; Greenwald, I.: The Caenorhabditis. elegans sel-1 gene, a negative regulator of lin-12 and glp-1, encodes a predicted extracellular protein. Genetics 143: 237-247, 1996.
[0021425]12013.Grant, B.; Greenwald, I.: Structure, function and expression of SEL-1, a negative regulator of LIN-12 and GLP-1 in C. elegans. Development 124: 637-644, 1997.
[0021426]12014.Ben Porath, I.; Kozak, C. A.; Benvenisty, N.: Chromosomal mapping of Tmp (Emp1), Xmp (Emp2), and Ymp (Emp3), genes encoding membrane proteins related to Pmp22. Genomics 49: 443-447, 1998.
[0021427]12015.Chen, Y.; Medvedev, A.; Ruzanov, P.; Marvin, K. W.; Jetten, A. M.: cDNA cloning, genomic structure, and chromosome mapping of the human epithelial membrane protein CL-20 gene (EMP1), a member of the PMP22 family. Genomics 41: 40-48, 1997.
[0021428]12016.Liehr, T.; Kuhlenbaumer, G.; Wulf, P.; Taylor, V.; Suter, U.; Van Broeckhoven, C.; Lupski, J. R.; Claussen, U.; Rautenstrauss, B.: Regional localization of the human epithelial membrane protein genes 1, 2, and 3 (EMP1, EMP2, EMP3) to 12p12.3, 16p13.2, and 19q13.3. Genomics 58: 106-108, 1999.
[0021429]12017.Marvin, K. W.; Fujimoto, W.; Jetten, A. M.: Identification and characterization of a novel squamous cell-associated gene related to PMP22. J. Biol. Chem. 270: 28910-28916, 1995.
[0021430]12018.Ruegg, C. L.; Wu, H.; Fagnoni, F. F.; Engleman, E. G.; Laus, R. : B4B, a novel growth-arrest gene, is expressed by a subset of progenitor/pre-B lymphocytes negative for cytoplasmic mu-chain. J. Immun. 157: 72-80, 1996.
[0021431]12019.Taylor, V.; Suter, U.: Epithelial membrane protein-2 and epithelial membrane protein-3: two novel members of the peripheral myelin protein 22 gene family. Gene 175: 115-120, 1996.
[0021432]12020.Masiakowski, P.; Carroll, R. D.: A novel family of cell surface receptors with tyrosine kinase-like domain. J. Biol. Chem. 267: 26181-26190, 1992.
[0021433]12021.Adelmant, G.; Begue, A.; Stehelin, D.; Laudet, V.: A functional Rev-erb-alpha responsive element located in the human Rev-erb-alpha promoter mediates a repressing activity. Proc. Nat. Acad. Sci. 93: 3553-3558, 1996.
[0021434]12022.Chawla, A.; Lazar, M. A.: Induction of Rev-ErbA alpha, an orphan receptor encoded on the opposite strand of the alpha-thyroid hormone receptor gene, during adipocyte differentiation. J. Biol. Chem. 268: 16265-16269, 1993.
[0021435]12023.Lazar, M. A.; Hodin, R. A.; Darling, D. S.; Chin, W. W.: A novel member of the thyroid/steroid hormone receptor family is encoded by the opposite strand of the rat c-erbA-alpha transcriptional unit. Molec. Cell. Biol. 9: 1128-1136, 1989.
[0021436]12024.Miyajima, N.; Horiuchi, R.; Shibuya, S.; Matsubara, K.; Toyoshima, K.; Yamamoto, T.: Two erbA homologs encoding proteins with different T(3) binding capacities are transcribed from opposite DNA strands of the same genetic locus. Cell 57: 31-39, 1989.
[0021437]12025.Preitner, N.; Damiola, F.; Lopez-Molina, L.; Zakany, J.; Duboule, D.; Albrecht, U.; Schibler, U.: The orphan nuclear receptor REV-ERB-alpha controls circadian transcription within the positive limb of the mammalian circadian oscillator. Cell 110: 251-260, 2002.
[0021438]12026.Zhao, Q.; Khorasanizadeh, S.; Miyoshi, Y.; Lazar, M. A.; Rastinejad, F.: Structural elements of an orphan nuclear receptor-DNA complex. Molec. Cell 1: 849-861, 1998.
[0021439]12027.Saito, T.; Seki, N.; Yamauchi, M.; Tsuji, S.; Hayashi, A.; Kozuma, S.; Hori, T.: Structure, chromosomal location, and expression profile of EXTR1 and EXTR2, new members of the multiple exostoses gene family. Biochem. Biophys. Res. Commun. 243: 61-66, 1998.
[0021440]12028.Wuyts, W.; Van Hul, W.: Characterization and genomic localization of the mouse Extl2 gene. Cytogenet. Cell Genet. 89: 185-188, 2000.
[0021441]12029.Wuyts, W.; Van Hul, W.; Hendrickx, J.; Speleman, F.; Wauters, J.; De Boulle, K.; Van Roy, N.; Van Agtmael, T.; Bossuyt, P.; Willems, P. J.: Identification and characterization of a novel member of the EXT gene family, EXTL2. Europ. J. Hum. Genet. 5: 382-389, 1997.
[0021442]12030.Yue, S.; Serra, H. G.; Zoghbi, H. Y.; Orr, H. T.: The spinocerebellar ataxia type 1 protein, ataxin-1, has RNA-binding activity that is inversely affected by the length of its polyglutamine tract. Hum. Molec. Genet. 10: 25-30, 2001.
[0021443]12031.Dick, T.; Ray, K.; Salz, H. K.; Chia, W.: Cytoplasmic dynein (ddlc1) mutations cause morphogenetic defects and apoptotic cell death in Drosophila melanogaster. Molec. Cell. Biol. 16: 1966-1977, 1996.
[0021444]12032.Matsushita, M.; Endo, Y.; Taira, S.; Sato, Y.; Fujita, T.; Ichikawa, N.; Nakata, M.; Misuochi, T.: A novel human lectin with collagen- and fibrinogen-like domains which functions as an opsonin. J. Biol. Chem. 271: 2448-2454, 1996.
[0021445]12033.Azuma, N.; Hirakiyama, A.; Inoue, T.; Asaka, A.; Yamada, M.: Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies. Hum. Molec. Genet. 9: 363-366, 2000.
[0021446]12034.Johnson, K. R.; Cook, S. A.; Erway, L. C.; Matthews, A. N.; Sanford, L. P.; Paradies, N. E.; Friedman, R. A.: Inner ear and kidney anomalies caused by IAP insertion in an intron of the Eya1 gene in a mouse model of BOR syndrome. Hum. Molec. Genet. 8: 645-653, 1999.
[0021447]12035.Kumar, S.; Deffenbacher, K.; Cremers, C. W. R. J.; Van Camp, G.; Kimberling, W. J.: Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing. Genet. Testing 1: 243-251, 1998.
[0021448]12036.Kumar, S.; Kimberling, W. J.; Weston, M. D.; Schaefer, B. G.; Berg, M. A.; Marres, H. A. M.; Cremers, C. W. R. J.: Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome. Hum. Mutat. 11: 443-449, 1998.
[0021449]12037.Rickard, S.; Boxer, M.; Trompeter, R.; Bitner-Glindzicz, M.: Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes. (Letter) J. Med. Genet. 37: 623-627, 2000.
[0021450]12038.Stoppa-Lyonnet, D.; Carter, P. E.; Meo, T.; Tosi, M.: Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements. Proc. Nat. Acad. Sci. 87: 1551-1555, 1990.
[0021451]12039.Vincent, C.; Kalatzis, V.; Abdelhak, S.; Chaib, H.; Compain, S.; Helia, J.; Vaneecloo, F.-M.; Petit, C.: BOR and BO syndromes are allelic defects of EYA1. Europ. J. Hum. Genet. 5: 242-246, 1997.
[0021452]12040.Wallace, M. R.; Andersen, L. B.; Saulino, A. M.; Gregory, P. E.; Glover, T. W.; Collins, F. S.: A de novo Alu insertion results in neurofibromatosis type 1. Nature 353: 864-866, 1991.
[0021453]12041.Xu, P.-X.; Adams, J.; Peters, H.; Brown, M. C.; Heaney, S.; Maas, R.: Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia. Nature Genet. 23: 113-117, 1999.
[0021454]12042.Xu, P.-X.; Cheng, J.; Epstein, J. A.; Maas, R. L.: Mouse Eya genes are expressed during limb tendon development and encode a transcriptional activation function. Proc. Nat. Acad. Sci. 94: 11974-11979, 1997.
[0021455]12043.Xu, P.-X.; Woo, I.; Her, H.; Beier, D. R.; Maas, R. L.: Mouse Eya homologues of the Drosophila eyes absent gene require Pax6 for expression in lens and nasal placode. Development 124: 219-231, 1997.
[0021456]12044.Banfi, S.; Borsani, G.; Rossi, E.; Bernard, L.; Guffanti, A.; Rubboli, F.; Marchitiello, A.; Giglio, S.; Coluccia, E.; Zollo, M.; Zuffardi, O.; Ballabio, A.: Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching. Nature Genet. 13: 167-174, 1996.
[0021457]12045.Xu, P.-X.; Cheng, J.; Epstein, J. A.; Maas, R. L.: Mouse Eya genes are expressed during limb tendon development and encode a transcriptional activation function. Proc. Nat. Acad. Sci. 94: 11974-11979, 1997.
[0021458]12046.Zimmerman, J. E.; Bui, Q. T.; Steingrimsson, E.; Nagle, D. L.; Fu, W.; Genin, A.; Spinner, N. B.; Copeland, N. G.; Jenkins, N. A.; Bucan, M.; Bonini, N. M.: Cloning and characterization of two vertebrate homologs of the Drosophila eyes absent gene. Genome Res. 7: 128-141, 1997.
[0021459]12047.Morrisey, E. E.; Tang, Z.; Sigrist, K.; Lu, M. M.; Jiang, F.; Ip, H. S.; Parmacek, M. S.: GATA6 regulates HNF4 and is required for differentiation of visceral endoderm in the mouse embryo. Genes Dev. 12: 3579-3590, 1998.
[0021460]12048.Suzuki, E.; Evans, T.; Lowry, J.; Truong, L.; Bell, D. W.; Testa, J. R.; Walsh, K.: The human GATA-6 gene: structure, chromosomal location, and regulation of expression by tissue-specific and mitogen-responsive signals. Genomics 38: 283-290, 1996.
[0021461]12049.Meurs, E.; Chong, K.; Galabru, J.; Shaun, N.; Thomas, S. B.; Kerr, I. M.; Williams, B. R. G.; Hovanessian, A. G.: Molecular cloning and characterization of the human double-stranded RNAactivated protein kinase induced by interferon. Cell 62: 379-390, 1990.
[0021462]12050.Eber, S. W.; Gonzalez, J. M.; Lux, M. L.; Scarpa, A. L.; Tse, W. T.; Dornwell, M.; Herbers, J.; Kugler, W.; Ozcan, R.; Pekrun, A.; Gallagher, P. G.; Schroter, W.; Forget, B. G.; Lux, S. E.: Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis. Nature Genet. 13: 214-218, 1996.
[0021463]12051.Bashir, R.; Strachan, T.; Keers, S.; Stephenson, A.; Mahjneh, I.; Marconi, G.; Nashef, L.; Bushby, K. M. D.: A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p. Hum. Molec. Genet. 3: 455-457, 1994.
[0021464]12052.Katz, M. D.; Kligman, I.; Cai, L.-Q.; Zhu, Y.-S.; Fratianni, C. M.; Zervoudakis, I.; Rosenwaks, Z.; Imperato-McGinley, J.: Paternity in intrauterine insemination with sperm from a man with 5-alpha-reductase-2 deficiency. New Eng. J. Med. 336: 994-997, 1997.
[0021465]12053.Levy, G. G.; Nichols, W. C.; Lian, E. C.; Foroud, T.; McClintick, J. N.; McGee, B. M.; Yang, A. Y.; Slemieniak, D. R.; Stark, K. R.; Gruppo, R.; Sarode, R.; Shurin, S. B.; Chandrasekaran, V.; Stabler, S. P.; Sabio, H.; Bouhassira, E. E.; Upshaw, J. D., Jr.; Ginsburg, D.; Tsai, H.-M.: Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. Nature 413: 488-494, 2001.
[0021466]12054.Nicolao, P.; Carella, M.; Giometto, B.; Tavolato, B.; Cattin, R.; Giovannucci-Uzielli, M. L.; Vacca, M.; Regione, F. D.; Piva, S.; Bortoluzzi, S.; Gasparini, P.: DHPLC analysis of the MECP2 gene in Italian Rett patients. Hum. Mutat. 18: 132-140, 2001.
[0021467]12055.Sasaki, G.; Ogata, T.; Ishii, T.; Hasegawa, T.; Sato, S.; Matsuo, N.: Novel mutation of TBX3 in a Japanese family with ulnar-mammary syndrome: implication for impaired sex development. Am. J. Med. Genet. 110: 365-369, 2002.
[0021468]12056.Fargion, S.; Cappellini, M. D.; Piperno, A.; Panajotopoulos, N.; Ronchi, G.; Fiorelli, G.: Association of hereditary spherocytosis and idiopathic hemochromatosis: a synergistic effect in determining iron overload. Am. J. Clin. Path. 86: 645-649, 1986.
[0021469]12057.Forget, B. G.; Lux, S. E.; Agre, P.; Watkins, P. C.; John, K.; Costa, F. F.: Dominant hereditary spherocytosis (HS) is linked to the gene for the erythrocyte membrane protein ankyrin.(Abstract) Cytogenet. Cell Genet. 51: 999, 1989.
[0021470]12058.Gallagher, P. G.; Ferreira, J. D. S.; Costa, F. F.; Saad, S. T. O.; Forget, B. G.: A recurrent frameshift mutation of the ankyrin gene associated with severe hereditary spherocytosis. Brit. J. Haemat. 111: 1190-1193, 2000.
[0021471]12059.Gallagher, P. G.; Forget, B. G.: An alternate promoter directs expression of a truncated, muscle-specific isoform of the human ankyrin 1 gene. J. Biol. Chem. 273: 1339-1348, 1998.
[0021472]12060.Gallagher, P. G.; Sabatino, D. E.; Basseres, D. S.; Nilson, D. M.; Wong, C.; Cline, A. P.; Garrett, L. J.; Bodine, D. M.: Erythrocyte ankyrin promoter mutations associated with recessive hereditary spherocytosis cause significant abnormalities in ankyrin expression. J. Biol. Chem. 276: 41683-41689, 2001.
[0021473]12061.Greenquist, A. C.; Shohet, S. B.; Bernstein, S. E.: Marked reduction of spectrin in hereditary spherocytosis in the common house mouse. Blood 51: 1149-1155, 1978.
[0021474]12062.Hanspal, M.; Yoon, S.-H.; Yu, H.; Hanspal, J. S.; Lambert, S.; Palek, J.; Prchal, J. T.: Molecular basis of spectrin and ankyrin deficiencies in severe hereditary spherocytosis: evidence implicating a primary defect of ankyrin. Blood 77: 165-173, 1991.
[0021475]12063.Hayette, S.; Carre, G.; Bozon, M.; Alloisio, N.; Maillet, P.; Wilmotte, R.; Pascal, O.; Reynaud, J.; Reman, O.; Stephan, J.-L.; Morle, L.; Delaunay, J.: Two distinct truncated variants of ankyrin associated with hereditary spherocytosis. Am. J. Hemat. 58: 36-41, 1998.
[0021476]12064.Hill, J. S.; Sawyer, W. H.; Howlett, G. J.; Wiley, J. S.: Hereditary spherocytosis of man: altered binding of cytoskeletal components to the erythrocyte membrane. Biochem. J. 201: 259-266, 1982.
[0021477]12065.Iolascon, A.; del Giudice, E. M.; Camaschella, C.; Pinto, L.; Nobili, B.; Perrotta, S.; Cutillo, S.: Ankyrin deficiency in dominant hereditary spherocytosis: report of three cases. Brit. J. Haemat. 78: 551-554, 1991.
[0021478]12066.Jacob, H. S.: Dysfunction of the red blood cell membrane in hereditary spherocytosis. Brit. J. Haemat. 14: 99-104, 1968.
[0021479]12067.Jacob, H. S.: Hereditary spherocytosis: a disease of the red cell membrane. Seminars Hemat. 2: 139-166, 1965.
[0021480]12068.Jacob, H. S.: Abnormalities in the physiology of the erythrocyte membrane in hereditary spherocytosis. Am. J. Med. 41: 734-741, 1966.
[0021481]12069.Jacob, H. S.; Amsden, T.; White, J.: Experimental production of hereditary spherocytosis (HS): role of defective membrane microfilaments in the disorder.(Abstract) J. Clin. Invest. 50: 48A, 1971.
[0021482]12070.Jacob, H. S.; Jandl, J. H.: Increased cell membrane permeability in the pathogenesis of hereditary spherocytosis. J. Clin. Invest. 43: 1704-1720, 1964.
[0021483]12071.Jacob, H. S.; Ruby, A.; Overland, E. S.; Mazia, D.: Abnormal membrane protein of red blood cells in hereditary spherocytosis. J. Clin. Invest. 50: 1800-1805, 1971.
[0021484]12072.Jandl, J. H.; Cooper, R. A.: Hereditary spherocytosis.In: Stanbury, J. B.; Wyngaarden, J. B.; Fredrickson, D. S.: The Metabolic Basis of Inherited Disease. New York: McGraw-Hill (pub.) (3rd ed.) : 1972. Pp. 1323-1337.
[0021485]12073.Jarolim, P.; Rubin, H. L.; Brabec, V.; Palek, J.: A nonsense mutation glu1669-to-ter within the regulatory domain of human erythroid ankyrin leads to a selective deficiency of the major ankyrin isoform (band 2.1) and a phenotype of autosomal dominant hereditary spherocytosis. J. Clin. Invest. 95: 941-947, 1995.
[0021486]12074.Jensson, O.; Jonasson, J. L.; Magnusson, S.: Studies on hereditary spherocytosis in Iceland. Acta Med. Scand. 201: 187-195, 1977.
[0021487]12075.Johnsson, R.; Himberg, J.-J.: Thrombocyte aggregation in hereditary spherocytosis. Clin. Chim. Acta 119: 257-262, 1982.
[0021488]12076.Kimberling, W. J.; Fulbeck, T.; Dixon, L.; Lubs, H. A.: Localization of spherocytosis to chromosome 8 or 12 and report of a family with spherocytosis and a reciprocal translocation. Am. J. Hum. Genet. 27: 586-594, 1975.
[0021489]12077.Kirkpatrick, F. H.; Woods, G. M.; LaCelle, P. L.: Absence of one component of spectrin adenosine triphosphatase in hereditary spherocytosis. Blood 46: 945-954, 1975.
[0021490]12078.Kitatani, M.; Chiyo, H.; Ozaki, M.; Shike, S.; Miwa, S.: Localization of the spherocytosis gene to chromosome segment 8p11.22-8p21.1. Hum. Genet. 78: 94-95, 1988.
[0021491]12079.Lambert, S.; Yu, H.; Prchal, J. T.; Lawler, J.; Ruff, P.; Speicher, D.; Cheung, M. C.; Kan, Y. W.; Palek, J.: cDNA sequence for human erythrocyte ankyrin. Proc. Nat. Acad. Sci. 87: 1730-1734, 1990.
[0021492]12080.Lefrere, J. J.; Courouce, A.-M.; Girot, R.; Bertrand, Y.; Soulier, J.-P.: Six cases of hereditary spherocytosis revealed by human parvovirus infection. Brit. J. Haemat. 62: 653-658, 1986.
[0021493]12081.Leite, R. C. A.; Basseres, D. S.; Ferreira, J. S.; Alberto, F. L.; Costa, F. F.; Saad, S. T. O.: Low frequency of ankyrin mutations in hereditary spherocytosis: identification of three novel mutations. Hum. Mutat. 16: 529 only, 2000.
[0021494]12082.Lux, S. E.; John, K. M.; Bennett, V.: Analysis of cDNA for human erythrocyte ankyrin indicates a repeated structure with homology to tissue-differentiation and cell-cycle control proteins. Nature 344: 36-42, 1990.
[0021495]12083.Lux, S. E.; Tse, W. T.; Menninger, J. C.; John, K. M.; Harris, P.; Shalev, O.; Chilcote, R. R.; Marchesi, S. L.; Watkins, P. C.; Bennett, V.; McIntosh, S.; Collins, F. S.; Francke, U.; Ward, D. C.; Forget, B. G.: Hereditary spherocytosis associated with deletion of human erythrocyte ankyrin gene on chromosome 8. Nature 345: 736-739, 1990.
[0021496]12084.MacKinney, A. A.: Hereditary spherocytosis: clinical family studies. Arch. Intern. Med. 116: 257-265, 1965.
[0021497]12085.Amrani, A.; Verdaguer, J.; Serra, P.; Tafuro, S.; Tan, R.; Santamaria, P.: Progression of autoimmune diabetes driven by avidity maturation of a T-cell population. Nature 406: 739-742, 2000.
[0021498]12086.Bowcock, A. M.; Kavathas, P.; Margolskee, R. F.; Herzenberg, L.; Cavalli-Sforza, L. L.: An RFLP associated with pcDLeu2-14, a human T-cell differentiation antigen CD8 (Leu2) cDNA mapped to 2p12. Nucleic Acids Res. 14: 7817 only, 1986.
[0021499]12087.Bruns, G.; Kavathas, P.; Shiloh, Y.; Sakai, K.; Schwaber, J.; Latt, S. A.; Herzenberg, L. A.: The human T cell antigen Leu-2 (T8) is encoded on chromosome 2. Hum. Genet. 70: 311-314, 1985.
[0021500]12088.Giblin, P.; Ledbetter, J. A.; Kavathas, P.: A secreted form of the human lymphocyte cell surface molecule CD8 arises from alternative splicing. Proc. Nat. Acad. Sci. 86: 998-1002, 1989.
[0021501]12089.Kavathas, P.; Sukhatme, V. P.; Herzenberg, L. A.; Parnes, J. R. : Isolation of the gene encoding the human T-lymphocyte differentiation antigen Leu-2 (T8) by gene transfer and cDNA subtraction. Proc. Nat. Acad. Sci. 81: 7688-7692, 1984.
[0021502]12090.Ledbetter, J. A.; Evans, R. L.; Lipinski, M.; Cunningham-Rundles, C.; Good, R. A.; Herzenberg, L. A.: Evolutionary conservation of surface molecules that distinguish T lymphocyte helperinducer and cytotoxic-suppressor subpopulations in mouse and man. J. Exp. Med. 153: 310-323, 1981.
[0021503]12091.Ledbetter, J. A.; Seaman, W. E.; Tsu, T. T.; Herzenberg, L. A. : Lyt-2 and Lyt-3 antigens are on two different polypeptide subunits linked by disulfide bonds: relationship of subunits to T cell cytolytic activity. J. Exp. Med. 153: 1503-1516, 1981.
[0021504]12092.Leishman, A. J.; Naidenko, O. V.; Attinger, A.; Koning, F.; Lena, C. J.; Xiong, Y.; Chang, H.-C.; Reinherz, E.; Kronenberg, M.; Cheroutre, H.: T cell responses modulated through interaction between CD8-alpha-alpha and the nonclassical MHC class I molecule, TL. Science 294: 1936-1939, 2001.
[0021505]12093.Littman, D. R.: The structure of the CD4 and CD8 genes. Annu. Rev. Immun. 5: 561-584, 1987.
[0021506]12094.Littman, D. R.; Thomas, Y.; Maddon, P. J.; Chess, L.; Axel, R. : The isolation and sequence of the gene encoding T8: a molecule defining functional classes of T lymphocytes. Cell 40: 237-246, 1985.
[0021507]12095.Mecucci, C.; Van Den Berghe, H.: OKT8-positive T-cell lymphoma associated with a chromosome rearrangement t(2;17) possibly involving the T8 locus. (Letter) New Eng. J. Med. 313: 185-186, 1985.
[0021508]12096.Nakauchi, H.; Nolan, G. P.; Hsu, C.; Huang, H. S.; Kavathas, P.; Herzenberg, L. A.: Molecular cloning of Lyt-2, a membrane glycoprotein marking a subset of mouse T lymphocytes: molecular homology to its human counterpart, Leu-2/T8, and to immunoglobulin variable regions. Proc. Nat. Acad. Sci. 82: 5126-5130, 1985.
[0021509]12097.Lindsay, E. A.; Vitelli, F.; Su, H.; Morishima, M.; Huynh, T.; Pramparo, T.; Jurecic, V.; Ogunrinu, G.; Sutherland, H. F.; Scambler, P. J.; Bradley, A.; Baldini, A.: Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice. Nature 410: 97-101, 2001.
[0021510]12098.Merscher, S.; Funke, B.; Epstein, J. A.; Heyer, J.; Puech, A.; Lu, M. M.; Xavier, R. J.; Demay, M. B.; Russell, R. G.; Factor, S.; Tokooya, K.; St. Jore, B.; and 12 others: TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. Cell 104: 619-629, 2001.
[0021511]12099.Peukert, K.; Staller, P.; Schneider, A.; Carmichael, G.; Hanel, F.; Eilers, M.: An alternative pathway for gene regulation by Myc. EMBO J. 16: 5672-5686, 1997.
[0021512]12100.Calfon, M.; Zeng, H.; Urano, F.; Till, J. H.; Hubbard, S. R.; Harding, H. P.; Clark, S. G.; Ron, D.: IRE1 couples endoplasmic reticulum load to secretory capacity by processing the XBP-1 mRNA. Nature 415: 92-96, 2002.
[0021513]12101.Liou, H.-C.; Boothby, M. R.; Finn, P. W.; Davidson, R.; Nabavi, N.; Zeleznik-Le, N. J.; Ting, J. P.-Y.; Glimcher, L. H.: A new member of the leucine zipper class of proteins binds to the HLA DR-alpha promoter. Science 247: 1581-1584, 1990.
[0021514]12102.Liou, H.-C.; Eddy, R.; Shows, T.; Lisowska-Grospierre, B.; Griscelli, C.; Doyle, C.; Mannhalter, J.; Eibl, M.; Glimcher, L. H.: An HLA-DR-alpha promoter DNA-binding protein is expressed ubiquitously and maps to human chromosomes 22 and 5. Immunogenetics 34: 286-292, 1991.
[0021515]12103.Reimold, A. M.; Iwakoshi, N. N.; Manis, J.; Vallabhajosyula, P.; Szomolanyi-Tsuda, E.; Gravallese, E. M.; Friend, D.; Grusby, M. J.; Alt, F.; Glimcher, L. H.: Plasma cell differentiation requires the transcription factor XBP-1. Nature 412: 300-307, 2001.
[0021516]12104.Blunt, T.; Taccioli, G. E.; Priestley, A.; Hafezparast, M.; McMillan, T.; Liu, J.; Cole, C. C.; White, J.; Alt, F. W.; Jackson, S. P.; Schurr, E.; Lehmann, A. R.; Jeggo, P. A.: A YAC contig encompassing the XRCC5 (Ku80) DNA repair gene and complementation defective cells by YAC protoplast fusion. Genomics 30: 320-328, 1995.
[0021517]12105.Nielsen, J. B.; Henriksen, K. F.; Hansen, C.; Silahtaroglu, A.; Schwartz, M.; Tommerup, N.: MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern. Europ. J. Hum. Genet. 9: 178-184, 2001.
[0021518]12106.Ohki, I.; Shimotake, N.; Fujita, N.; Jee, J.-G.; Ikegami, T.; Nakao, M.; Shirakawa, M.: Solution structure of the methyl-CpG binding domain of human MBD1 in complex with methylated DNA. Cell 105: 487-497, 2001.
[0021519]12107.Oh, J.; Ho, L.; Ala-Mello, S.; Amato, D.; Armstrong, L.; Bellucci, S.; Carakushansky, G.; Ellis, J. P.; Fong, C.-T.; Green, J. S.; Heon, E.; Legius, E.; Levin, A. V.; Nieuwenhuis, H. K.; Pinckers, A.; Tamura, N.; Whiteford, M. L.; Yamasaki, H.; Spritz, R. A.: Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity. Am. J. Hum. Genet. 62: 593-598, 1998.
[0021520]12108.Orrico, A.; Lam, C.-W.; Galli, L.; Dotti, M. T.; Hayek, G.; Tong, S.-F.; Poon, P. M. K.; Zappella, M.; Federico, A.; Sorrentino, V. : MECP2 mutation in male patients with non-specific X-linked mental retardation. FEBS Lett. 481: 285-288, 2000.
[0021521]12109.Quaderi, N. A.; Meehan, R. R.; Tate, P. H.; Cross, S. H.; Bird, A. P.; Chatterjee, A.; Herman, G. E.; Brown, S. D. M.: Genetic and physical mapping of a gene encoding a methyl CpG binding protein, Mecp2, to the mouse X chromosome. Genomics 22: 648-651, 1994.
[0021522]12110.Shahbazian, M. D.; Antalffy, B.; Armstrong, D. L.; Zoghbi, H. Y.: Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation. Hum. Molec. Genet. 11: 115-124, 2002.
[0021523]12111.Tate, P.; Skarnes, W.; Bird, A.: The methyl-CpG binding protein MeCP2 is essential for embryonic development in the mouse. Nature Genet. 12: 205, 1996.
[0021524]12112.Topcu, M.; Akyerli, C.; Sayi, A.; Toruner, G. A.; Kocoglu, S. R.; Cimbis, M.; Ozcelik, T.: Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy. Europ. J. Hum. Genet. 10: 77-81, 2002.
[0021525]12113.Trappe, R.; Laccone, F.; Cobilanschi, J.; Meins, M.; Huppke, P.; Hanefeld, F.; Engel, W.: MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin. Am. J. Hum. Genet. 68: 1093-1101, 2001.
[0021526]12114.Vilain, A.; Apiou, F.; Vogt, N.; Dutrillaux, B.; Malfoy, B.: Assignment of the gene for methyl-CpG-binding protein 2 (MECP2) to human chromosome band Xq28 by in situ hybridization. Cytogenet. Cell Genet. 74: 293-294, 1996.
[0021527]12115.Wan, M.; Lee, S. S. J.; Zhang, X.; Houwink-Manville, I.; Song, H.-R.; Amir, R. E.; Budden, S.; Naidu, S.; Pereira, J. L. P.; Lo, I. F. M.; Zoghbi, H. Y.; Schanen, N. C.; Francke, U.: Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. Am. J. Hum. Genet. 65: 1520-1529, 1999.
[0021528]12116.Wan, M.; Zhao, K.; Lee, S. S. J.; Francke, U.: MECP2 truncating mutations cause histone H4 hyperacetylation in Rett syndrome. Hum. Molec. Genet. 10: 1085-1092, 2001.
[0021529]12117.Watson, P.; Black, G.; Ramsden, S.; Barrow, M.; Super, M.; Kerr, B.; Clayton-Smith, J.: Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein. J. Med. Genet. 38: 224-228, 2001.
[0021530]12118.Willard, H. F.; Hendrich, B. D.: Breaking the silence in Rett syndrome. Nature Genet. 23: 127-128, 1999.
[0021531]12119.Xiang, F.; Buervenich, S.; Nicolao, P.; Bailey, M. E. S.; Zhang, Z.; Anvret, M.: Mutation screening in Rett syndrome patients. J. Med. Genet. 37: 250-255, 2000.
[0021532]12120.Yntema, H. G.; Oudakker, A. R.; Kleefstra, T.; Hamel, B. C. J.; van Bokhoven, H.; Chelly, J.; Kalscheuer, V. M.; Fryns, J.-P.; Raynaud, M.; Moizard, M.-P.; Moraine, C.: In-frame deletion in MECP2 causes mild nonspecific mental retardation. (Letter) Am. J. Med. Genet. 107: 81-83, 2002.
[0021533]12121.Yusufzai, T. M.; Wolffe, A. P.: Functional consequences of Rett syndrome mutations on human MeCP2. Nucleic Acids Res. 28: 4172-4179, 2000.
[0021534]12122.Fuentes, J.-J.; Pritchard, M. A.; Planas, A. M.; Bosch, A.; Ferrer, I.; Estivill, X.: A new human gene from the Down syndrome critical region encodes a proline-rich protein highly expressed in fetal brain and heart. Hum. Molec. Genet. 4: 1935-1944, 1995.
[0021535]12123.Nakamura, A.; Hattori, M.; Sakaki, Y.: Isolation of a novel human gene from the Down syndrome critical region of chromosome 21q22.2. J. Biochem. 122: 872-877, 1997.
[0021536]12124.Schallreuter, K. U.; Frenk, E.; Wolfe, L. S.; Witkop, C. J.; Wood, J. M.: Hermansky-Pudlak syndrome in a Swiss population. Dermatology 187: 248-256, 1993.
[0021537]12125.Suzuki, T.; Li, W.; Zhang, Q.; Karim, A.; Novak, E. K.; Sviderskaya, E. V.; Hill, S. P.; Bennett, D. C.; Levin, A. V.; Nieuwenhuis, H. K.; Fong, C.-T.; Castellan, C.; Miterski, B.; Swank, R. T.; Spritz, R. A.: Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. Nature Genet. 30: 321-324, 2002.
[0021538]12126.Wildenberg, S. C.; Oetting, W. S.; Almodovar, C.; Krumwiede, M.; White, J. G.; King, R. A.: A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2. Am. J. Hum. Genet. 57: 755-765, 1995.
[0021539]12127.Magnussen, K.: Beitrag zur Genetik und Histologie eines isolierten Augenalbinismus beim Kaninchen. Z. Morph. Anthrop. 44: 127-135, 1952.
[0021540]12128.MacKinney, A. A.; Morton, N. E.; Kosower, N. S.; Schilling, R. F.: Ascertaining genetic carriers of hereditary spherocytosis by statistical analysis of multiple laboratory tests. J. Clin. Invest. 41: 554-567, 1962.
[0021541]12129.Sukhatme, V. P.; Sizer, K. C.; Vollmer, A. C.; Hunkapiller, T.; Parnes, J. R.: The T cell differentiation antigen leu-2/T8 is homologous to immunoglobulin and T cell receptor variable regions. Cell 40: 591-597, 1985.
[0021542]12130.Chen, D. J.; Marrone, B. L.; Nguyen, T.; Stackhouse, M.; Zhao, Y.; Siciliano, M. J.: Regional assignment of a human DNA repair gene (XRCC5) to 2q35 by x-ray hybrid mapping. Genomics 21: 423-427, 1994.
[0021543]12131.Kirchgessner, C. U.; Patil, C. K.; Evans, J. W.; Cuomo, C. A.; Fried, L. M.; Carter, T.; Oettinger, M. A.; Brown, J. M.: DNA-dependent kinase (p350) as a candidate gene for the murine SCID defect. Science 267: 1178-1183, 1995.
[0021544]12132.Reardon, W.; Coffey, R.; Phelps, P. D.; Luxon, L. M.; Stephens, D.; Kendall-Taylor, P.; Britton, K. E.; Grossman, A.; Trembath, R. : Pendred syndrome--100 years of underascertainment? Quart. J. Med. 90: 443-447, 1997.
[0021545]12133.Royaux, I. E.; Wall, S. M.; Karniski, L. P.; Everett, L. A.; Suzuki, K.; Knepper, M. A.; Green, E. D.: Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion. Proc. Nat. Acad. Sci. 98: 4221-4226, 2001.
[0021546]12134.Taylor, J. P.; Metcalfe, R. A.; Watson, P. F.; Weetman, A. P.; Trembath, R. C.: Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome. J. Clin. Endocr. Metab. 87: 1778-1784, 2002.
[0021547]12135.Douville, P.; Seldin, M. F.; Carbonetto, S.: Genetic mapping of the integrin alpha-1 gene (Vla1) to mouse chromosome 13. Genomics 14: 503-505, 1992.
[0021548]12136.Bettaieb, A.; Fromont, P.; Rodet, M.; Godeau, B.; Duedari, N.; Bierling, P.: Br(b), a platelet alloantigen involved in neonatal alloimmune thrombocytopenia. Vox Sang. 60: 230-234, 1991.
[0021549]12137.Carlsson, L. E.; Santoso, S.; Spitzer, C.; Kessler, C.; Greinacher, A.: The alpha-2 gene coding sequence T807/A873 of the platelet collagen receptor integrin alpha-2/beta-1 might be a genetic risk factor for the development of stroke in younger patients. Blood 93: 3583-3586, 1999.
[0021550]12138.Chen, D. J.; Park, M. S.; Campbell, E.; Oshimura, M.; Liu, P.; Zhao, Y.; White, B. F.; Siciliano, M. J.: Assignment of a human DNA double-strand break repair gene (XRCC5) to chromosome 2. Genomics 13: 1088-1094, 1992.
[0021551]12139.Difilippantonio, M. J.; Zhu, J.; Chen, H. T.; Meffre, E.; Nussenzweig, M. C.; Max, E. E.; Ried, T.; Nussenzweig, A.: DNA repair protein Ku80 suppresses chromosomal aberrations and malignant transformation. Nature 404: 510-514, 2000.
[0021552]12140.Jeggo, P. A.; Hafezparast, M.; Thompson, A. F.; Broughton, B. C.; Kaur, G. P.; Zdzienicka, M. Z.; Athwal, R. S.: Localization of a DNA repair gene (XRCC5) involved in doublestrand-break rejoining to human chromosome 2. Proc. Nat. Acad. Sci. 89: 6423-6427, 1992.
[0021553]12141.Taccioli, G. E.; Gottlieb, T. M.; Blunt, T.; Priestley, A.; Demengeot, J.; Mizuta, R.; Lehmann, A. R.; Alt, F. W.; Jackson, S. P.; Jeggo, P. A.: Ku80: product of the XRCC5 gene and its role in DNA repair and V(D)J recombination. Science 265: 1442-1445, 1994.
[0021554]12142.Ohkuchi, A.; Shiraishi, H.; Minakami, H.; Eguchi, Y.; Izumi, A.; Sato, I.: Fetus with long QT syndrome manifested by tachyarrhythmia: a case report. Prenat. Diag. 19: 990-992, 1999.
[0021555]12143.Pacia, S. V.; Devinsky, O.; Luciano, D. J.; Vazquez, B.: The prolonged QT syndrome presenting as epilepsy: a report of two cases and literature review. Neurology 44: 1408-1410, 1994.
[0021556]12144.Piippo, K.; Swan, H.; Pasternack, M.; Chapman, H.; Paavonen, K.; Viitasalo, M.; Toivonen, L.; Kontula, K.: A founder mutation of the potassium channel KCNQ1 in long QT syndrome: implications for estimation of disease prevalence and molecular diagnostics. J. Am. Coll. Cardiol. 37: 562-568, 2001.
[0021557]12145.Pony, J. C.; Matheyses, M.; Daubert, J. C.; Fourdilis, M.; Gouffault, J.: Le syndrome QT long-syncope familial: deux observations de syndrome de Romano et Ward. Arch. Mal. Coeur 70: 1105-1114, 1977.
[0021558]12146.Priori, S. G.; Schwartz, P. J.; Napolitano, C.; Bianchi, L.; Dennis, A.; De Fusco, M.; Brown, A. M.; Casari, G.: A recessive variant of the Romano-Ward Long-QT syndrome? Circulation 97: 2420-2425, 1998.
[0021559]12147.Romano, C.: Congenital cardiac arrhythmia. (Letter) Lancet I: 658-659, 1965.
[0021560]12148.Romano, C.; Gemme, G.; Pongiglione, R.: Aritmie cardiache rare dell' eta pediatrica. II. Accessi sincopali per fibrillazione ventricolare parossistica. (Presentazione del primo caso della letteratura pediatrica Italiana.) Clin. Pediat. 45: 656-683, 1963.
[0021561]12149.Roy, N.; Kahlem, P.; Dausse, E.; Bennaceur, M.; Faure, S.; Weissenbach, J.; Komajda, M.; Denjoy, I.; Coumel, P.; Schwartz, K.; Guicheney, P.: Exclusion of HRAS from long QT locus. (Letter) Nature Genet. 8: 113-114, 1994.
[0021562]12150.Roy, P. R.; Emanuel, R.; Ismail, S. A.; Tayib, M. H.: Hereditary prolongation of the QT interval: genetic observations and management in three families with 12 affected members. Am. J. Cardiol. 37: 237-243, 1976.
[0021563]12151.Russell, M. W.; Dick, M., II; Collins, F. S.; Brody, L. C.: KVLQT1 mutations in three families with familial or sporadic long QT syndrome. Hum. Molec. Genet. 5: 1319-1324, 1996.
[0021564]12152.Schmitt, N.; Schwarz, M.; Peretz, A.; Abitbol, I.; Attali, B.; Pongs, O.: A recessive Cterminal Jervell and Lange-Nielsen mutation of the KCNQ1 channel impairs subunit assembly. EMBO J. 19: 332-340, 2000.
[0021565]12153.Schwartz, P. J.: Cardiac sympathetic innervation and the sudden infant death syndrome: a possible pathogenetic link. Am. J. Med. 60: 167-172, 1976.
[0021566]12154.Schwartz, P. J.; Priori, S. G.; Bloise, R.; Napolitano, C.; Ronchetti, E.; Piccinini, A.; Goj, C.; Breithardt, G.; Schulze-Bahr, E.; Wedekind, H.; Nastoli, J.: Molecular diagnosis in a child with sudden infant death syndrome. (Letter) Lancet 358: 1342-1343, 2001.
[0021567]12155.Schwartz, P. J.; Stramba-Badiale, M.; Segantini, A.; Austoni, P.; Bosi, G.; Giorgetti, R.; Grancini, F.; Marni, E. D.; Perticone, F.; Rosti, D.; Salice, P.: Prolongation of the QT interval and the sudden infant death syndrome. New Eng. J. Med. 338: 1709-1714, 1998.
[0021568]12156.Shalaby, F. Y.; Levesque, P. C.; Yang, W.-P.; Little, W. A.; Conder, M. L.; Jenkins-West, T.; Blanar, M. A.: Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome. Circulation 96: 1733-1736, 1997.
[0021569]12157.Shimizu, W.; Kurita, T.; Matsuo, K.; Suyama, K.; Aihara, N.; Kamakura, S.; Towbin, J. A.; Shimomura, K.: Improvement of repolarization abnormalities by a K+ channel opener in the LQT1 form of congenital long-QT syndrome. Circulation 97: 1581-1588, 1998.
[0021570]12158.Singer, P. A.; Crampton, R. S.; Bass, N. H.: Familial Q-T prolongation syndrome: convulsive seizures and paroxysmal ventricular fibrillation. Arch. Neurol. 31: 64-66, 1974.
[0021571]12159.Smilinich, N. J.; Day, C. D.; Fitzpatrick, G. V.; Caldwell, G. M.; Lossie, A. C.; Cooper, P. R.; Smallwood, A. C.; Joyce, J. A.; Schofield, P. N.; Reik, W.; Nicholls, R. D.; Weksberg, R.; Driscoll, D. J.; Maher, E. R.; Shows, T. B.; Higgins, M. J.: A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome. Proc. Nat. Acad. Sci. 96: 8064-8069, 1999.
[0021572]12160.Splawski, I.; Timothy, K. W.; Vincent, G. M.; Atkinson, D. L.; Keating, M. T.: Molecular basis of the long-QT syndrome associated with deafness. New Eng. J. Med. 336: 1562-1567, 1997.
[0021573]12161.Campbell, H. D.; Webb, G. C.; Young, I. G.: A human homologue of the Drosophila melanogaster sluggish-A (proline oxidase) gene maps to 22q11.2, and is a candidate gene for type-I hyperprolinaemia. Hum. Genet. 101: 69-74, 1997.
[0021574]12162.Miura, K.; Yasuda, K.; Yanase, T.; Yamakita, N.; Sasano, H.; Nawata, H.; Inoue, M.; Fukaya, T.; Shizuta, Y.: Mutation of cytochrome P-45017 alpha gene (CYP17) in a Japanese patient previously reported as having glucocorticoid-responsive hyperaldosteronism: with a review of Japanese patients with mutations of CYP17. J. Clin. Endocr. Metab. 81: 3797-3801, 1996.
[0021575]12163.New, M. I.: Male pseudohermaphroditism due to 17-alpha-hydroxylase deficiency. J. Clin. Invest. 49: 1930-1941, 1970.
[0021576]12164.Oshiro, C.; Takasu, N.; Wakugami, T.; Komiya, I.; Yamada, T.; Eguchi, Y.; Takei, H.: Seventeen alpha-hydroxylase deficiency with one base pair deletion of the cytochrome P450c17 (CYP17) gene. J. Clin. Endocr. Metab. 80: 2526-2529, 1995.
[0021577]12165.Picado-Leonard, J.; Miller, W. L.: Structure of the human P450c17 gene is closely related to the P450c21 gene. (Abstract) Am. J. Hum. Genet. 41: A234, 1987.
[0021578]12166.Rovner, D. R.; Gordon, D. L.: Direct evidence for a functional block with 18 oxidation in a patient with 17-alpha-hydroxylase deficiency. Trans. Assoc. Am. Phys. 91: 416-423, 1978.
[0021579]12167.Scaroni, C.; Biason, A.; Carpene, G.; Opocher, G.; Mantero, F. : 17-Alpha-hydroxylase deficiency in three siblings: short- and long-term studies. J. Endocr. Invest. 14: 99-108, 1991.
[0021580]12168.Slominski, A.; Ermak, G.; Mihm, M.: ACTH receptor, CYP11A1, CYP17 and CYP21A2 genes are expressed in skin. J. Clin. Endocr. Metab. 81: 2746-2749, 1996.
[0021581]12169.Suzuki, Y.; Nagashima, T.; Nomura, Y.; Onigata, K.; Nagashima, K.; Morikawa, A.: A new compound heterozygous mutation (W17X, 436+5G-to-T) in the cytochrome P450c17 gene causes 17-alpha-hydroxylase/17,20-lyase deficiency. J. Clin. Endocr. Metab. 83: 199-202, 1998.
[0021582]12170.Winter, J. S. D.; Couch, R. M.; Muller, J.; Perry, Y. S.; Ferreira, P.; Baydala, L.; Shackleton, C. H. L.: Combined 17-hydroxylase and 17,20-desmolase deficiencies: evidence for synthesis of a defective cytochrome P450(c17). J. Clin. Endocr. Metab. 68: 309-316, 1989.
[0021583]12171.Yamaguchi, H.; Nakazato, M.; Miyazato, M.; Kangawa, K.; Matsukura, S.: A 5-primesplice site mutation in the cytochrome P450 steroid 17-alpha-hydroxylase gene in 17-alpha-hydroxylase deficiency. J. Clin. Endocr. Metab. 82: 1934-1938, 1997.
[0021584]12172.Yanase, T.; Kagimoto, M.; Suzuki, S.; Hashiba, K.; Simpson, E. R.; Waterman, M. R.: Deletion of a phenylalanine in the N-terminal region of human cytochrome P-450(17a) results in partial combined 17-alpha-hydroxylase/17,20-lyase deficiency. J. Biol. Chem. 264: 18076-18082, 1989.
[0021585]12173.Yanase, T.; Sanders, D.; Shibata, A.; Matsui, N.; Simpson, E. R.; Waterman, M. R.: Combined 17-alpha-hydroxylase/17,20-lyase deficiency due to a 7-basepair duplication in the N-terminal region of the cytochrome P450(17-alpha) (CYP17) gene. J. Clin. Endocr. Metab. 70: 1325-1329, 1990.
[0021586]12174.Yanase, T.; Simpson, E. R.; Waterman, M. R.: 17-Alpha-hydroxylase/17,20-lyase deficiency: from clinical investigation to molecular definition. Endocr. Rev. 12: 91-108, 1991.
[0021587]12175.Yazaki, K.; Kuribayashi, T.; Yamamura, Y.; Kurihara, T.; Araki, S.: Hypokalemic myopathy associated with 17-alpha-hydroxylase deficiency: a case report. Neurology 32: 94-97, 1982.
[0021588]12176.Youngblood, G. L.; Sartorius, C.; Taylor, B. A.; Payne, A. H. : Isolation, characterization, and chromosomal mapping of mouse P450 17-alpha-hydroxylase/C17-20 lyase. Genomics 10: 270-275, 1991.
[0021589]12177.Zlotogora, J.; Gieselmann, V.; Bach, G.: Multiple mutations in a specific gene in a small geographic area: a common phenomenon? (Letter) Am. J. Hum. Genet. 58: 241-243, 1996.
[0021590]12178.Touraine, J. L.; Betuel, H.; Souillet, G.; Jeune, M.: Combined immunodeficiency disease associated with absence of cell-surface HLA-A and -B antigens. J. Pediat. 93: 47-51, 1978.
[0021591]12179.Wolf, H. M.; Hauber, I.; Gulle, H.; Thon, V.; Eggenbauer, H.; Fischer, M. B.; Fiala, S.; Eibl, M. M.: Brief report: Twin boys with major histocompatibility complex class II deficiency but inducible immune responses. New Eng. J. Med. 332: 86-90, 1995.
[0021592]12180.Dupuis, S.; Dargemont, C.; Fieschi, C.; Thomassin, N.; Rosenzweig, S.; Harris, J.; Holland, S. M.; Schreiber, R. D.; Casanova, J.-L. : Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation. Science 293: 300-303, 2001.
[0021593]12181.Findlay, K. A. B.; Kaptein, E.; Visser, T. J.; Burchell, B.: Characterization of the uridine diphosphate-glucuronosyltransferase-catalyzing thyroid hormone glucuronidation in man. J. Clin. Endocr. Metab. 85: 2879-2883, 2000.
[0021594]12182.Wooster, R.; Sutherland, L.; Ebner, T.; Clarke, D.; Da Cruz e Silva, O.; Burchell, B.: Cloning and stable expression of a new member of the human liver phenol/bilirubin:UDPglucuronosyltransferase cDNA family. Biochem. J. 278: 465-469, 1991.
[0021595]12183.Martiniuk, F.; Mehler, M.; Pellicer, A.; Tzall, S.; La Badie, G.; Hobart, C.; Ellenbogen, A.; Hirschhorn, R.: Isolation of a cDNA for human acid alpha-glucosidase and detection of genetic heterogeneity for mRNA in three alpha-glucosidase-deficient patients. Proc. Nat. Acad. Sci. 83: 9641-9644, 1986.
[0021596]12184.Nickel, B. E.; Chudley, A. E.; Pabello, P. D.; McAlpine, P. J. : Exclusion mapping of the GAA locus to chromosome 17q21-q25. Cytogenet. Cell Genet. 32: 303-304, 1982.
[0021597]12185.Nickel, B. E.; McAlpine, P. J.: Extension of human acid alpha-glucosidase polymorphism by isoelectric focusing in polyacrylamide gel. Ann. Hum. Genet. 46: 97-103, 1982.
[0021598]12186.Sandison, A.; Broadhead, D. M.; Bain, A. D.: Elucidation of an unbalanced chromosome translocation by gene dosage studies. Clin. Genet. 22: 30-36, 1982.
[0021599]12187.Shieh, J.-J.; Lin, C.-Y.: Frequent mutation in Chinese patients with infantile type of GSD II in Taiwan: evidence for a founder effect. Hum. Mutat. 11: 306-312, 1998.
[0021600]12188.Solomon, E.; Swallow, D. M.; Burgess, S.; Evans, L.: Assignment of the human acid alpha-glucosidase gene (alpha-GLU) to chromosome 17 using somatic cell hybrids. Ann. Hum. Genet. 42: 273-281, 1979.
[0021601]12189.Tsunoda, H.; Ohshima, J.; Tohyama, J.; Sasaki, M.; Sakuragawa, N.; Martiniuk, F.: Acid-alpha-glucosidase deficiency: identification and expression of a missense mutation (S529V) in a Japanese adult phenotype. Hum. Genet. 97: 496-499, 1996.
[0021602]12190.Van der Kraan, M.; Kroos, M. A.; Joosse, M.; Bijvoet, A. G. A.; Verbeet, M. P.; Kleijer, W. J.; Reuser, A. J. J.: Deletion of exon 18 is a frequent mutation in glycogen storage disease type II. Biochem. Biophys. Res. Commun. 203: 1535-1541, 1994.
[0021603]12191.Van der Ploeg, A. T.; Hoefsloot, L. H.; Hoogeveen-Westerveld, M.; Petersen, E. M.; Reuser, A. J. J.: Glycogenosis type II: protein and DNA analysis in five South African families from various ethnic origins. Am. J. Hum. Genet. 44: 787-793, 1989.
[0021604]12192.Vorgerd, M.; Burwinkel, B.; Reichmann, H.; Malin, J.-P.; Kilimann, M. W.: Adultonset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients. Neurogenetics 1: 205-211, 1998.
[0021605]12193.Walvoort, H. C.; Slee, R. G.; Sluis, K. J.; Koster, J. F.; Reuser, A. J. J.: Biochemical genetics of the Lapland dog model of glycogen storage disease type II (acid alpha-glucosidase deficiency). Am. J. Med. Genet. 19: 589-598, 1984.
[0021606]12194.Yan, B.; Raben, N.; Lu, N.; Plotz, P. H.: Identification and characterization of a tissuespecific silencer element in the first intron of the human acid maltase gene. Hum. Genet. 109: 186-190, 2001.
[0021607]12195.Zhong, N.; Martiniuk, F.; Tzall, S.; Hirschhorn, R.: Identification of a missense mutation in one allele of a patient with Pompe disease, and use of endonuclease digestion of PCRamplified RNA to demonstrate lack of mRNA expression from the second allele. Am. J. Hum. Genet. 49: 635-645, 1991.
[0021608]12196.Tanaka, S.; Yamashita, S.; Hosaka, K.: Cloning and expression of human cDNA encoding phosphatidylinositol transfer protein beta. Biochim. Biophys. Acta 1259: 199-202, 1995.
[0021609]12197.Dijkstra, M.; Veld, G. I.; van den Berg, G. J.; Muller, M.; Kuipers, F.; Vonk, R. J.: Adenosine triphosphate-dependent copper transport in isolated rat liver plasma membranes. J. Clin. Invest. 95: 412-416, 1995.
[0021610]12198.Figus, A.; Angius, A.; Loudianos, G.; Bertini, C.; Dessi, V.; Loi, A.; Deiana, M.; Lovicu, M.; Olla, N.; Sole, G.; De Virgiliis, S.; Lilliu, F.; and 21 others: Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations. Am. J. Hum. Genet. 57: 1318-1324, 1995.
[0021611]12199.Cossee, M.; Durr, A.; Schmitt, M.; Dahl, N.; Trouillas, P.; Allinson, P.; Kostrzewa, M.; Nivelon-Chevallier, A.; Gustavson, K.-H.; Kohlschutter, A.; Muller, U.; Mandel, J.-L.; and 11 others: Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes. Ann. Neurol. 45: 200-206, 1999.
[0021612]12200.De Castro, M.; Garcia-Planells, J.; Monros, E.; Canizares, J.; Vazquez-Manrique, R.; Vilchez, J. J.; Urtasun, M.; Lucus, M.; Navarro, G.; Izquierdo, G.; Molto, M. D.; Palau, F.: Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients. Hum. Genet. 106: 86-92, 2000.
[0021613]12201.Delatycki, M. B.; Paris, D.; Gardner, R. J. M.; Forshaw, K.; Nicholson, G. A.; Nassif, N.; Williamson, R.; Forrest, S. M.: Sperm DNA analysis in a Friedreich ataxia premutation carrier suggests both meiotic and mitotic expansion in the FRDA gene. J. Med. Genet. 35: 713-716, 1998.
[0021614]12202.Duclos, F.; Boschert, U.; Sirugo, G.; Mandel, J.-L.; Hen, R.; Koenig, M.: Gene in the region of the Friedreich ataxia locus encodes a putative transmembrane protein expressed in the nervous system. Proc. Nat. Acad. Sci. 90: 109-113, 1993.
[0021615]12203.Doi, A.; Shiosaka, T.; Takaoka, Y.; Yanagisawa, K.; Fujita, S. : Molecular cloning of the cDNA encoding A+U-rich element RNA binding factor. Biochim. Biophys. Acta 1396: 51-56, 1998.
[0021616]12204.Kamei, D.; Tsuchiya, N.; Yamazaki, M.; Meguro, H.; Yamada, M.: Two forms of expression and genomic structure of the human heterogeneous nuclear ribonucleoprotein D-like JKTBP gene (HNRPDL). Gene 228: 13-22, 1999.
[0021617]12205.Tsuchiya, N.; Kamei, D.; Takano, A.; Matsui, T.; Yamada, M.: Cloning and characterization of a cDNA encoding a novel heterogeneous nuclear ribonucleoprotein-like protein and its expression in myeloid leukemia cells. J. Biochem. 123: 499-507, 1998.
[0021618]12206.Ma, Y. H.; Betard, C.; Roy, M.; Davignon, J.; Kessling, A. M. : Identification of a second 'French Canadian' LDL receptor gene deletion and development of a rapid method to detect both deletions. Clin. Genet. 36: 219-228, 1989.
[0021619]12207.Mandelshtam, M.; Chakir, K.; Shevtsov, S.; Golubkov, V.; Skobeleva, N.; Lipovetsky, B.; Konstantinov, V.; Denisenko, A.; Gaitskhoki, V.; Schwartz, E.: Prevalence of Lithuanian mutation among St. Petersburg Jews with familial hypercholesterolemia. Hum. Mutat. 12: 255-258, 1998.
[0021620]12208.Meiner, V.; Landsberger, D.; Berkman, N.; Reshef, A.; Segal, P.; Seftel, H. C.; van der Westhuyzen, D. R.; Jeenah, M. S.; Coetzee, G. A.; Leitersdorf, E.: A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews. Am. J. Hum. Genet. 49: 443-449, 1991.
[0021621]12209.Miyake, Y.; Tajima, S.; Funahashi, T.; Yamamura, T.; Yamamoto, A.: A point mutation of low-density-lipoprotein receptor causing rapid degradation of the receptor. Europ. J. Biochem. 210: 1-7, 1992.
[0021622]12210.Moorjani, S.; Roy, M.; Torres, A.; Betard, C.; Gagne, C.; Lambert, M.; Brun, D.; Davignon, J.; Lupien, P.: Mutations of low-density-lipoprotein-receptor gene, variation in plasma cholesterol, and expression of coronary heart disease in homozygous familial hypercholesterolaemia. Lancet 341: 1303-1306, 1993.
[0021623]12211.Oppenheim, A.; Friedlander, Y.; Dann, E. J.; Berkman, N.; Schwartz, S. P.; Leitersdorf, E.: Hypercholesterolemia in five Israeli Christian-Arab kindreds is caused by the 'Lebanese' allele at the low density lipoprotein receptor gene locus and by an additional independent major factor. Hum. Genet. 88: 75-84, 1991.
[0021624]12212.Pisciotta, L.; Cantafora, A.; De Stefano, F.; Langheim, S.; Calandra, S.; Bertolini, S.: A 'de novo' mutation of the LDL-receptor gene as the cause of familial hypercholesterolemia. Biochim. Biophys. Acta 1587: 7-11, 2002.
[0021625]12213.Rodningen, O. K.; Rosby, O.; Tonstad, S.; Ose, L.; Berg, K.; Leren, T. P.: A 9.6 kilobase deletion in the low density lipoprotein receptor gene in Norwegian familial hypercholesterolemia subjects. Clin. Genet. 42: 288-295, 1992.
[0021626]12214.Rubinsztein, D. C.; Coetzee, G. A.; Marais, A. D.; Leitersdorf, E.; Seftel, H. C.; van der Westhuyzen, D. R.: Identification and properties of the proline-644-to-leucine mutant LDL receptor in South Africans of Indian origin. J. Lipid Res. 33: 1647-1655, 1992.
[0021627]12215.Rudiger, N. S.; Heinsvig, E. M.; Hansen, F. A.; Faergeman, O.; Bolund, L.; Gregersen, N.: DNA deletions in the low density lipoprotein (LDL) receptor gene in Danish families with familial hypercholesterolemia. Clin. Genet. 39: 451-462, 1991.
[0021628]12216.Ruffner, D. E.; Sprung, C. N.; Minghetti, P. P.; Gibbs, P. E. M.; Dugaiczyk, A.: Invasion of the human albumin-alpha-fetoprotein gene family by Alu, Kpn, and two novel repetitive DNA elements. Molec. Biol. Evol. 4: 1-9, 1987.
[0021629]12217.Russell, D. W.; Lehrman, M. A.; Sudhof, T. C.; Yamamoto, T.; Davis, C. G.; Hobbs, H. H.; Brown, M. S.; Goldstein, J. L.: The LDL receptor in familial hypercholesterolemia: use of human mutations to dissect a membrane protein. Cold Spring Harbor Symp. Quant. Biol. 51: 811-819, 1986.
[0021630]12218.Russell, D. W.; Schneider, W. J.; Yamamoto, T.; Luskey, K. L.; Brown, M. S.; Goldstein, J. L.: Domain map of the LDL receptor: sequence homology with the epidermal growth factor precursor. Cell 37: 577-585, 1984.
[0021631]12219.Schuster, H.; Manke, C.; Fischer, J.; Keller, C.; Wolfram, G.; Zollner, N.: Identification of the valine 408 to methionine mutation in the LDL receptor in a Greek patient with homozygous familial hypercholesterolemia. Clin. Genet. 48: 90-92, 1995.
[0021632]12220.Schuster, H.; Ostwald, P.; Keller, P.; Wolfram, G.; Keller, C. : Identification of the serine-156 to leucine mutation in the low-density lipoprotein receptor in a German family with familial hypercholesterolemia. Clin. Investig. 71: 172-175, 1993.
[0021633]12221.Slagel, V.; Flemington, E.; Traina-Dorge, V.; Bradshaw, H.; Deininger, P.: Clustering and subfamily relationships of the Alu family in the human genome. Molec. Biol. Evol. 4: 19-29, 1987. 100. Soutar, A. K.; Knight, B. L.; Patel, D. D.: Identification of a point mutation in growth repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors. Proc. Nat. Acad. Sci. 86: 4166-4170, 1989. 101. Soutar, A. K.; McCarthy, S. N.; Seed, M.; Knight, B. L.: Relationship between apolipoprotein(a) phenotype, lipoprotein(a) concentration in plasma, and low density lipoprotein receptor function in a large kindred with familial hypercholesterolemia due to the pro664-to-leu mutation in the LDL receptor gene. J. Clin. Invest. 88: 483-492, 1991. 102. Steyn, K.; Weight, M. J.; Dando, B. R.; Christopher, K. J.; Rossouw, J. E.: The use of low density lipoprotein receptor activity of lymphocytes to determine the prevalence of familial hypercholesterolaemia in a rural South African community. J. Med. Genet. 26: 32-36, 1989. 103. Sudhof, T. C.; Goldstein, J. L.; Brown, M. S.; Russell, D. W. : The LDL receptor gene: a mosaic of exons shared with different proteins. Science 228: 815-822, 1985. 104. Sudhof, T. C.; Russell, D. W.; Goldstein, J. L.; Brown, M. S.; Sanchez-Pescador, R.; Bell, G. I.: Cassette of eight exons shared by genes for LDL receptor and EGF precursor. Science 228: 893-895, 1985. 105. Sun, X.-M.; Patel, D. D.; Bhatnager, D.; Knight, B. L.; Soutar, A. K.: Characterization of a splice-site mutation in the gene for the LDL receptor associated with an unpredictably severe clinical phenotype in English patients with heterozygous FH. Arteroscler. Thromb. Vasc. Biol. 15: 219-227, 1995. 106. Takahashi, M.; Ikeda, U.; Takahashi, S.; Hattori, H.; Iwasaki, T.; Ishihara, M.; Egashira, T.; Honma, S.; Asano, Y.; Shimada, K. : A novel mutation in exon 2 of the low-density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia. (Letter) Clin. Genet. 59: 290-292, 2001. 107. Taylor, R.; Bryant, J.; Gudnason, V.; Sigurdsson, G.; Humphries, S.: A study of familial hypercholesterolaemia in Iceland using RFLPs. J. Med. Genet. 26: 494-498, 1989. 108. Thiart, R.; Scholtz, C. L.; Vergotine, J.; Hoogendijk, C. F.; de Villiers, J. N. P.; Nissen, H.; Brusgaard, K.; Gaffney, D.; Hoffs, M. S.; Vermaak, W. J. H.; Kotze, M. J.: Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia. J. Med. Genet. 37: 514-519, 2000. 109. Tolleshaug, H.; Goldstein, J. L.; Schneider, W. J.; Brown, M. S.: Posttranslational processing of the LDL receptor and its genetic disruption in familial hypercholesterolemia. Cell 30: 715-724, 1982. 110. Top, B.; Koeleman, B. P. C.; Gevers Leuven, J. A.; Havekes, L. M.; Frants, R. R.: Rearrangements in the LDL receptor gene in Dutch familial hypercholesterolemic patients and the presence of a common 4 kb deletion. Atherosclerosis 83: 127-136, 1990. 111. Top, B.; Uitterlinden, A. G.; van der Zee, A.; Kastelein, J. J. P.; Gevers Leuven, J. A.; Havekes, L. M.; Frants, R. R.: Absence of mutations in the promoter region of the low density lipoprotein receptor gene in a large number of familial hypercholesterolaemia patients as revealed by denaturing gradient gel electrophoresis. Hum. Genet. 89: 561-565, 1992. 112. Torrington, M.; Botha, J. L.: Familial hypercholesterolaemia and church affiliation. (Letter) Lancet II: 1120 only, 1981. 113. Ullu, E.; Tschudi, C.: Alu sequences are processed 7SL RNA genes. Nature 312: 171-172, 1984. 114. Varret, M.; Rabes, J.-P.; Collod-Beroud, G.; Junien, C.; Boileau, C.; Beroud, C.: Software and database for the analysis of mutations in the human LDL receptor gene. Nucleic Acids Res. 25: 172-180, 1997. 115. Vergopoulos, A.; Bajari, T.; Jouma, M.; Knoblauch, H.; Aydin, A.; Bahring, S.; Mueller-Myhsok, B.; Dresel, A.; Joubran, R.; Luft, F. C.; Schuster, H.: A xanthomatosis-susceptibility gene may exist in a Syrian family with familial hypercholesterolemia. Europ. J. Hum. Genet. 5: 315-323, 1997. 116. Vergotine, J.; Thiart, R.; Langenhoven, E.; Hillermann, R.; De Jong, G.; Kotze, M. J.: Prenatal diagnosis of familial hypercholesterolemia: importance of DNA analysis in the high-risk South African population. Genet. Counsel. 12: 121-127, 2001. 117. Vuorio, A. F.; Turtola, H.; Piilahti, K.-M.; Repo, P.; Kanninen, T.; Kontula, K.: Familial hypercholesterolemia in the Finnish North Karelia: a molecular, clinical, and genealogical study. Arterioscler. Thromb. Vasc. Biol. 17: 3127-3138, 1997. 118. Wilson, D. J.; Gahan, M.; Haddad, L.; Heath, K.; Whittall, R. A.; Williams, R. R.; Humphries, S. E.; Day, I. N. M.: A World Wide Web site for low-density lipoprotein receptor gene mutations in familial hypercholesterolemia: sequence-based, tabular, and direct submission data handling. Am. J. Cardiol. 81: 1509-1511, 1998. 119. Yamakawa, K.; Okafuji, T.; Iwamura, Y.; Yuzawa, K.; Satoh, J.; Hattori, N.; Yamanouchi, Y.; Yanagi, H.; Kawai, K.; Tsuchiya, S.; Russell, D. W.; Hamaguchi, H.: TaqI polymorphism in the LDL receptor gene and a TaqI 1.5-kb band associated with familial hypercholesterolemia. Hum. Genet. 80: 1-5, 1988. 120. Yamakawa, K.; Takada, K.; Yanagi, H.; Tsuchiya, S.; Kawai, K.; Nakagawa, S.; Kajiyama, G.; Hamaguchi, H.: Three novel partial deletions of the low-density lipoprotein (LDL) receptor gene in familial hypercholesterolemia. Hum. Genet. 82: 317-321, 1989. 121. Yamamoto, T.; Davis, C. G.; Brown, M. S.; Schneider, W. J.; Casey, M. L.; Goldstein, J. L.; Russell, D. W.: The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA. Cell 39: 27-38, 1984. 122. Zuliani, G.; Hobbs, H. H.: Personal Communication. Dallas, Tex. 1990.
[0021634]12222.Schomburg, L.; Turwitt, S.; Prescher, G.; Lohmann, D.; Horsthemke, B.; Bauer, K.: Human TRH-degrading ectoenzyme: cDNA cloning, functional expression, genomic structure and chromosomal assignment. Europ. J. Biochem. 265: 415-422, 1999.
[0021635]12223.Adra, C. N.; Lelias, J.-M.; Kobayashi, H.; Kaghad, M.; Morrison, P.; Rowley, J. D.; Lim, B.: Cloning of the cDNA for a hematopoietic cell-specific protein related to CD20 and the beta subunit of the high-affinity IgE receptor: evidence for a family of proteins with four membrane-spanning regions. Proc. Nat. Acad. Sci. 91: 10178-10182, 1994.
[0021636]12224.Nagase, T.; Kikuno, R.; Hattori, A.; Kondo, Y.; Okumura, K.; Ohara, O.: Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. DNA Res. 7: 347-355, 2000.
[0021637]12225.O'Carroll, D.; Scherthan, H.; Peters, A. H. F. M.; Opravil, S.; Haynes, A. R.; Laible, G.; Rea, S.; Schmid, M.; Lebersorger, A.; Jerratsch, M.; Sattler, L.; Mattei, M. G.; Denny, P.; Brown, S. D. M.; Schweizer, D.; Jenuwein, T.: Isolation and characterization of Suv39h2, a second histone H3 methyltransferase gene that displays testis-specific expression. Molec. Cell. Biol. 20: 9423-9433, 2000.
[0021638]12226.Zhou, X. Z.; Lu, K. P.: The Pin2/TRF-1-interacting protein PinX1 is a potent telomerase inhibitor. Cell 107: 347-359, 2001.
[0021639]12227.Davis, R. S.; Wang, Y.-H.; Kubagawa, H.; Cooper, M. D.: Identification of a family of Fc receptor homologs with preferential B cell expression. Proc. Nat. Acad. Sci. 98: 9772-9777, 2001.
[0021640]12228.Xu, M.; Zhao, R.; Zhao, Z. J.: Molecular cloning and characterization of SPAP1, an inhibitory receptor. Biochem. Biophys. Res. Commun. 280: 768-775, 2001.
[0021641]12229.Abu-Jawdeh, G.; Comella, N.; Tomita, Y.; Brown, L. F.; Tognazzi, K.; Sokol, S. Y.; Kocher, O.: Differential expression of frpHE: a novel human stromal protein of the secreted frizzled gene family, during the endometrial cycle and malignancy. Lab. Invest. 79: 439-447, 1999.
[0021642]12230.Firneisz, G.; Lakatos, P. L.; Szalay, F.; Polli, C.; Glant, T. T.; Ferenci, P.: Common mutations of ATP7B in Wilson disease patients from Hungary. Am. J. Med. Genet. 108: 23-28, 2002.
[0021643]12231.Yoshikawa, T.; Sanders, A. R.; Esterling, L. E.; Detera-Wadleigh, S. D.: Multiple transcriptional variants and RNA editing in C18orf1, a novel gene with LDLRA and transmembrane domains on 18p11.2. Genomics 47: 246-257, 1998.
[0021644]12232.Yoshikawa, T.; Sanders, A. R.; Esterling, L. E.; Overharser, J.; Garnes, J. A.; Lennon, G.; Grewal, R.; Detera-Wadleigh, S. D.: Isolation of chromosome 18-specific brain transcripts as positional candidates for bipolar disorder. Am. J. Med. Genet. (Neuropsych. Genet.) 74: 140-149, 1997.
[0021645]12233.Anneren, C.; Reedquist, K. A.; Bos, J. L.; Welsh, M.: GTK, a Src-related tyrosine kinase, induces nerve growth factor-independent neurite outgrowth in PC12 cells through activation of the Rap1 pathway: relationship to Shb tyrosine phosphorylation and elevated levels of focal adhesion kinase. J. Biol. Chem. 275: 29153-29161, 2000.
[0021646]12234.Cance, W. G.; Craven, R. J.; Bergman, M.; Xu, L.; Alitalo, K.; Liu, E. T.: Rak, a novel nuclear tyrosine kinase expressed in epithelial cells. Cell Growth Differ. 5: 1347-1355, 1994.
[0021647]12235.Cance, W. G.; Craven, R. J.; Weiner, T. M.; Liu, E. T.: Novel protein kinases expressed in human breast cancer. Int. J. Cancer 54: 571-577, 1993.
[0021648]12236.Lee, J.; Wang, Z.; Luoh, S.-M.; Wood, W. I.; Scadden, D. T.: Cloning of FRK, a novel human intracellular SRC-like tyrosine kinase-encoding gene. Gene 138: 247-251, 1994.
[0021649]12237.Scott, A. F.: Personal Communication. Baltimore, Md. 12/19/2001.
[0021650]12238.Betz, A.; Thakur, P.; Junge, H. J.; Ashery, U.; Rhee, J.-S.; Scheuss, V.; Rosenmund, C.; Rettig, J.; Brose, N.: Functional interaction of the active zone proteins Munc13-1 and RIM1 in synaptic vesicle priming. Neuron 30: 183-196, 2001.
[0021651]12239.Castillo, P. E.; Schoch, S.; Schmitz, F.; Sudhof, T. C.; Malenka, R. C.: RIM1-alpha is required for presynaptic long-term potentiation. Nature 415: 327-330, 2002.
[0021652]12240.Coppola, T.; Magnin-Luthi, S.; Perret-Menoud, V.; Gattesco, S.; Schiavo, G.; Regazzi, R.: Direct interaction of the Rab3 effector RIM with Ca(2+) channels, SNAP-25, and synaptotagmin. J. Biol. Chem. 276: 32756-32762, 2001.
[0021653]12241.Schoch, S.; Castillo, P. E.; Jo, T.; Mukherjee, K.; Geppert, M.; Wang, Y.; Schmitz, F.; Malenka, R. C.; Sudhof, T. C.: RIM1-alpha forms a protein scaffold for regulating neurotransmitter release at the active zone. Nature 415: 321-326, 2002.
[0021654]12242.Wang, Y.; Sugita, S.; Sudhof, T. C.: The RIM/NIM family of neuronal C-2 domain proteins: interactions with Rab3 and a new class of Src homology 3 domain proteins. J. Biol. Chem. 275: 20033-20044, 2000.
[0021655]12243.Kitamoto, Y.; Veile, R. A.; Donis-Keller, H.; Sadler, J. E.: cDNA sequence and chromosomal localization of human enterokinase, the proteolytic activator of trypsinogen. Biochemistry 34: 4562-4568, 1995.
[0021656]12244.Kitamoto, Y.; Yuan, X.; Wu, Q.; McCourt, D. W.; Sadler, J. E.: Enterokinase, the initiator of intestinal digestion, is a mosaic protease composed of a distinctive assortment of domains. Proc. Nat. Acad. Sci. 91: 7588-7592, 1994.
[0021657]12245.Magrangeas, F.; Apiou, F.; Denis, S.; Weidle, U.; Jacques, Y.; Minvielle, S.: Cloning and expression of CIS6, chromosome assignment to 3p22 and 2p21 by in situ hybridization. Cytogenet. Cell Genet. 88: 78-81, 2000.
[0021658]12246.Vreugde, S.; Erven, A.; Kros, C. J.; Marcotti, W.; Fuches, H.; Kurima, K.; Wilcox, E. R.; Friedman, T. B.; Griffith, A. J.; Balling, R.; de Angelis, M. H.; Avraham, K. B.; Steel, K. P.: Beethoven, a mouse model for dominant, progressive hearing loss DFNA36. Nature Genet. 30: 257-258, 2002.
[0021659]12247.Grunder, S.; Geissler, H.-S.; Bassler, E.-L.; Ruppersberg, J. P. : A new member of acid-sensing ion channels from pituitary gland. Neuroreport 11: 1607-1611, 2000.
[0021660]12248.Tatarelli, C.; Linnenbach, A.; Mimori, K.; Croce, C. M.: Characterization of the human TESTIN gene localized in the FRA7G region at 7q31.2. Genomics 68: 1-12, 2000.
[0021661]12249.Tobias, E. S.; Hurlstone, A. F. L.; MacKenzie, E.; McFarlane, R.; Black, D. M.: The TES gene at 7q31.1 is methylated in tumours and encodes a novel growth-suppressing LIM domain protein. Oncogene 20: 2844-2853, 2001.
[0021662]12250.Ferdinandusse, S.; Mulders, J.; IJlst, L.; Denis, S.; Dacremont, G.; Waterham, H. R.; Wanders, R. J. A.: Molecular cloning and expression of human carnitine octanoyltransferase: evidence for its role in the peroxisomal beta-oxidation of branched-chain fatty acids. Biochem. Biophys. Res. Commun. 263: 213-218, 1999.
[0021663]12251.Horowitz, D. S.; Kobayashi, R.; Krainer, A. R.: A new cyclophilin and the human homologues of yeast Prp3 and Prp4 form a complex associated with U4/U6 snRNPs. RNA 3: 1374-1387, 1997.
[0021664]12252.Reidt, U.; Reuter, K.; Achsel, T.; Ingelfinger, D.; Luhrmann, R.; Ficner, R.: Crystal structure of the human U4/U6 small nuclear ribonucleoprotein particle-specific SnuCyp-20, a nuclear cyclophilin. J. Biol. Chem. 275: 7439-7442, 2000.
[0021665]12253.Teigelkamp, S.; Achsel, T.; Mundt, C.; Gothel, S.-F.; Cronshagen, U.; Lane, W. S.; Marahiel, M.; Luhrmann, R.: The 20kD protein of human [U4/U6.U5] tri-snRNPs is a novel cyclophilin that forms a complex with the U4/U6-specific 60kD and 90kD proteins. RNA 4: 127-141, 1998.
[0021666]12254.Gaynor, E. C.; Mondesert, G.; Grimme, S. J.; Reed, S. I.; Orlean, P.; Emr, S. D.: MCD4 encodes a conserved endoplasmic reticulum membrane protein essential for glycosylphosphatidylinositol anchor synthesis in yeast. Molec. Biol. Cell 10: 627-648, 1999.
[0021667]12255.Hong, Y.; Maeda, Y.; Watanabe, R.; Ohishi, K.; Mishkind, M.; Riezman, H.; Kinoshita, T.: Pig-n, a mammalian homologue of yeast Mcd4p, is involved in transferring phosphoethanolamine to the first mannose of the glycosylphosphatidylinositol. J. Biol. Chem. 274: 35099-35106, 1999.
[0021668]12256.Parks, W. T.; Frank, D. B.; Huff, C.; Haft, C. R.; Martin, J.; Meng, X.; de Caestecker, M. P.; McNally, J. G.; Reddi, A.; Taylor, S. I.; Roberts, A. B.; Wang, T.; Lechleider, R. J.: Sorting nexin 6, a novel SNX, interacts with the transforming growth factor-beta family of receptor serine-threonine kinases. J. Biol. Chem. 276: 19332-19339, 2001.
[0021669]12257.Gao, J.; Yu, L.; Zhang, P.; Jiang, J.; Chen, J.; Peng, J.; Wei, Y.; Zhao, S.: Cloning and characterization of human and mouse mitochondrial elongation factor G, GFM and Gfm, and mapping of GFM to human chromosome 3q25.1-q26.2. Genomics 74: 109-114, 2001.
[0021670]12258.Miura, K.; Jacques, K. M.; Stauffer, S.; Kubosaki, A.; Zhu, K.; Hirsch, D. S.; Resau, J.; Zheng, Y.; Randazzo, P. A.: ARAP1: a point of convergence for Arf and Rho signaling. Molec. Cell 9: 109-119, 2002.
[0021671]12259.Hicar, M. D.; Liu, Y.; Allen, C. E.; Wu, L.-C.: Structure of the human zinc finger protein HIVEP3: molecular cloning, expression, exon-intron structure, and comparison with paralogous genes HIVEP1 and HIVEP2. Genomics 71: 89-100, 2001.
[0021672]12260.Alderuccio, F.; Chan, E. K. L.; Tan, E. M.: Molecular characterization of an autoantigen of PM-Scl in the polymyositis/scleroderma overlap syndrome: a unique and complete human cDNA encoding an apparent 75-kD acidic protein of the nucleolar complex. J. Exp. Med. 173: 941-952, 1991.
[0021673]12261.Bates, E. E. M.; Fridman, W. H.; Mueller, C. G. F.: The ADAMDEC1 (decysin) gene structure: evolution by duplication in a metalloprotease gene cluster on chromosome 8p12. Immunogenetics 54: 96-105, 2002.
[0021674]12262.Bridges, L. C.; Tani, P. H.; Hanson, K. R.; Roberts, C. M.; Judkins, M. B.; Bowditch, R. D.: The lymphocyte metalloprotease MDC-L (ADAM28) is a ligand for the integrin alpha-4/beta-1. J. Biol. Chem. 277: 3784-3792, 2002.
[0021675]12263.Jury, J. A.; Perry, A. C. F.; Hall, L.: Identification, sequence analysis and expression of transcripts encoding a putative metalloproteinase, eMDC II, in human and macaque epididymis. Molec. Hum. Reprod. 5: 1127-1134, 1999.
[0021676]12264.Roberts, C. M.; Tani, P. H.; Bridges, L. C.; Laszik, Z.; Bowditch, R. D.: MDC-L, a novel metalloprotease disintegrin cysteine-rich protein family member expressed by human lymphocytes. J. Biol. Chem. 274: 29251-29259, 1999.
[0021677]12265.Kolle, G.; Georgas, K.; Holmes, G. P.; Little, M. H.; Yamada, T. : CRIM1, a novel gene encoding a cysteine-rich repeat protein, is developmentally regulated and implicated in vertebrate CNS development and organogenesis. Mech. Dev. 90: 181-193, 2000.
[0021678]12266.Shibui, A.; Tsunoda, T.; Seki, N.; Suzuki, Y.; Sugano, S.; Sugane, K.: Cloning, expression analysis, and chromosomal localization of a novel butyrophilin-like receptor. J. Hum. Genet. 44: 249-252, 1999.
[0021679]12267.Lee, A.; Beck, L.; Markovich, D.: The human renal sodium sulfate cotransporter (SLC13A1; hNaSi-1) cDNA and gene: organization, chromosomal localization, and functional characterization. Genomics 70: 354-363, 2000.
[0021680]12268.Fitzgerald, K. A.; Palsson-McDermott, E. M.; Bowie, A. G.; Jefferies, C. A.; Mansell, A. S.; Brady, G.; Brint, E.; Dunne, A.; Gray, P.; Harte, M. T.; McMurray, D.; Smith, D. E.; Sims, J. E.; Bird, T. A.; O'Neill, L. A. J.: Mal (MyD88-adapter-like) is required for Toll-like receptor-4 signal transduction. Nature 413: 78-83, 2001.
[0021681]12269.Horng, T.; Barton, G. M.; Medzhitov, R.: TIRAP: an adapter molecule in the Toll signaling pathway. Nature Immun. 2: 835-841, 2001.
[0021682]12270.Dose, A. C.; Burnside, B.: Cloning and chromosomal localization of a human class III myosin. Genomics 67: 333-342, 2000.
[0021683]12271.Walsh, T.; Walsh, V.; Vreugde, S.; Hertzano, R.; Shahin, H.; Haika, S.; Lee, M. K.; Kanaan, M.; King, M.-C.; Avraham, K. B.: From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30. Proc. Nat. Acad. Sci. 99: 7518-7523, 2002.
[0021684]12272.Sohda, M.; Misumi, Y.; Yamamoto, A.; Yano, A.; Nakamura, N.; Ikehara, Y.: Identification and characterization of a novel Golgi protein, GCP60, that interacts with the integral membrane protein giantin. J. Biol. Chem. 276: 45298-45306, 2001.
[0021685]12273.Baron, M.: Genetics of schizophrenia and the new millennium: progress and pitfalls. Am. J. Hum. Genet. 68: 299-312, 2001.
[0021686]12274.Chakravarti, A.: A compelling genetic hypothesis for a complex disease: PRODH2/DGCR6 variation leads to schizophrenia susceptibility. Proc. Nat. Acad. Sci. 99: 4755-4756, 2002.
[0021687]12275.Gogos, J. A.; Santha, M.; Takacs, Z.; Beck, K. D.; Luine, V.; Lucas, L. R.; Nadler, J. V.; Karayiorgou, M.: The gene encoding proline dehydrogenase modulates sensorimotor gating in mice. Nature Genet. 21: 434-439, 1999.
[0021688]12276.Liu, H.; Heath, S. C.; Sobin, C.; Roos, J. L.; Galke, B. L.; Blundell, M. L.; Lenane, M.; Robertson, B.; Wijsman, E. M.; Rapoport, J. L.; Gogos, J. A.; Karayiorgou, M.: Genetic variation at the 22q11 PRODH2/DGCR6 locus presents an unusual pattern and increases susceptibility to schizophrenia. Proc. Nat. Acad. Sci. 99: 3717-3722, 2002.
[0021689]12277.Scott, A.: Personal Communication. Baltimore, Md. 4/2002.
[0021690]12278.Doege, H.; Bocianski, A.; Joost, H.-G.; Schurmann, A.: Activity and genomic organization of human glucose transporter 9 (GLUT9), a novel member of the family of sugar-transport facilitators predominantly expressed in brain and leucocytes. Biochem. J. 350: 771-776, 2000.
[0021691]12279.Scott, A. F.: Personal Communication. Baltimore, Md. 4/1/2002.
[0021692]12280.Leo, C. P.; Hsu, S. Y.; McGee, E. A.; Salanova, M.; Hsueh, A. J. W.: DEFT, a novel death effector domain-containing molecule predominantly expressed in testicular germ cells. Endocrinology 139: 4839-4848, 1998.
[0021693]12281.Stegh, A. H.; Schickling, O.; Ehret, A.; Scaffidi, C.; Peterhansel, C.; Hofmann, T. G.; Grummt, I.; Krammer, P. H.; Peter, M. E.: DEDD, a novel death effector domain-containing protein, targeted to the nucleolus. EMBO J. 17: 5974-5986, 1998.
[0021694]12282.Dixon, J.; Hovanes, K.; Shiang, R.; Dixon, M. J.: Sequence analysis, identification of evolutionary conserved motifs and expression analysis of murine tcof1 provide further evidence for a potential function for the gene and its human homologue, TCOF1. Hum. Molec. Genet. 6: 727-737, 1997.
[0021695]12283.Dixon, M. J.; Read, A. P.; Donnai, D.; Colley, A.; Dixon, J.; Williamson, R.: The gene for Treacher Collins syndrome maps to the long arm of chromosome 5. Am. J. Hum. Genet. 49: 17-22, 1991.
[0021696]12284.Edwards, S. J.; Gladwin, A. J.; Dixon, M. J.: The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon. Am. J. Hum. Genet. 60: 515-524, 1997.
[0021697]12285.Cabart, P.; Murphy, S.: BRFU, a TFIIB-like factor, is directly recruited to the TATAbox of polymerase III small nuclear RNA gene promoters through its interaction with TATA-binding protein. J. Biol. Chem. 276: 43056-43064, 2001.
[0021698]12286.Schramm, L.; Pendergrast, P. S.; Sun, Y.; Hernandez, N.: Different human TFIIIB activities direct RNA polymerase III transcription from TATA-containing and TATA-less promoters. Genes Dev. 14: 2650-2663, 2000.
[0021699]12287.Soccio, R. E.; Adams, R. M.; Romanowski, M. J.; Sehayek, E.; Burley, S. K.; Breslow, J. L.: The cholesterol-regulated StarD4 gene encodes a StAR-related lipid transfer protein with two closely related homologues, StarD5 and StarD6. Proc. Nat. Acad. Sci. 99: 6943-6948, 2002.
[0021700]12288.Schenck, A.; Bardoni, B.; Moro, A.; Bagni, C.; Mandel, J. L.: A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P. Proc. Nat. Acad. Sci. 98: 8844-8849, 2001.
[0021701]12289.Dong, J.; Gu, T. T.; Simmons, D; MacDougall, M.: Enamelin maps to human chromosome 4q21 within the autosomal dominant amelogenesis imperfecta locus. Europ. J. Oral. Sci. 108: 353-358, 2000.
[0021702]12290.Oukka, M.; Kim, S. T.; Lugo, G.; Sun, J.; Wu, L.-C.; Glimcher, L. H.: A mammalian homolog of Drosophila schnurri, KRC, regulates TNF receptor-driven responses and interacts with TRAF2. Molec. Cell 9: 121-131, 2002.
[0021703]12291.Walder, R. Y.; Landau, D.; Meyer, P.; Shalev, H.; Tsolia, M.; Borochowitz, Z.; Boettger, M. B.; Beck, G. E.; Englehardt, R. K.; Carmi, R.; Sheffield, V. C.: Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia. Nature Genet. 31: 171-174, 2002.
[0021704]12292.Liang, J. C.; Chang, K. S.; Schroeder, W.; Siciliano, M.; Trujillo, J.; Stass, S.: The human myeloperoxidase gene locates on chromosome 17q22-24 and is translocated in acute promyelocytic leukemia. (Abstract) Am. J. Hum. Genet. 41: A226, 1987.
[0021705]12293.Liang, J. C.; Chang, K. S.; Schroeder, W. T.; Freireich, E. J.; Stass, S. A.; Trujillo, J. M.: The myeloperoxidase gene is translocated from chromosome 17 to 15 in a patient with acute promyelocytic leukemia. Cancer Genet. Cytogenet. 30: 103-107, 1988.
[0021706]12294.Miki, T.; Weil, S. C.; Rosner, G. L.; Reid, M. S.; Kidd, K. K. : An MPO cDNA clone identifies an RFLP with PstI. Nucleic Acids Res. 16: 1649, 1988.
[0021707]12295.Morishita, K.; Kubota, N.; Asano, S.; Kaziro, Y.; Nagata, S.: Molecular cloning and characterization of cDNA for human myeloperoxidase. J. Biol. Chem. 262: 3844-3851, 1987.
[0021708]12296.Murao, S.-I.; Stevens, F. J.; Ito, A.; Huberman, E.: Myeloperoxidase: a myeloid cell nuclear antigen with DNA-binding properties. Proc. Nat. Acad. Sci. 85: 1232-1236, 1988.
[0021709]12297.Nauseef, W.; Cogley, M.; McCormick, S.: Effect of the R569W missense mutation on the biosynthesis of myeloperoxidase. J. Biol. Chem. 271: 9546-9549, 1996.
[0021710]12298.Nauseef, W. M.; Olsson, I.; Arnljots, K.: Biosynthesis and processing of myeloperoxidase--a marker for myeloid cell differentiation. Europ. J. Haemat. 40: 97-110, 1988.
[0021711]12299.Reynolds, W. F.; Hiltunen, M.; Pirskanen, M.; Mannermaa, A.; Helisalmi, S.; Lehtovirta, M.; Alafuzoff, I.; Soininen, H.: MPO and APOE epsilon-4 polymorphisms interact to increase risk for AD in Finnish males. Neurology 55: 1284-1290, 2000.
[0021712]12300.Robinson, T. J.; Morris, D. J.; Ledbetter, D. H.: Chromosomal assignment and regional localization of myeloperoxidase in the mouse. Cytogenet. Cell Genet. 53: 83-86, 1990.
[0021713]12301.Romano, M.; Dri, P.; Dadalt, L.; Patriarca, P.; Baralle, F. E. : Biochemical and molecular characterization of hereditary myeloproliferative deficiency. Blood 90: 4126-4134, 1997.
[0021714]12302.van Tuinen, P.; Johnson, K. R.; Ledbetter, S. A.; Nussbaum, R. L.; Rovera, G.; Ledbetter, D. H.: Localization of myeloperoxidase to the long arm of human chromosome 17: relationship to the 15;17 translocation of acute promyelocytic leukemia. Oncogene 1: 319-322, 1987.
[0021715]12303.Weil, S. C.; Rosner, G. L.; Reid, M. S.; Chisholm, R. L.; Farber, N. M.; Spitznagel, J. K.; Swanson, M. S.: cDNA cloning of human myeloperoxidase: decrease in myeloperoxidase mRNA upon induction of HL-60 cells. Proc. Nat. Acad. Sci. 84: 2057-2061, 1987.
[0021716]12304.Weil, S. C.; Rosner, G. L.; Reid, M. S.; Chisholm, R. L.; Lemons, R. S.; Swanson, M. S.; Carrino, J. J.; Diaz, M. O.; Le Beau, M. M. : Translocation and rearrangement of myeloperoxidase gene in acute promyelocytic leukemia. Science 240: 790-792, 1988.
[0021717]12305.Yamada, M.; Hur, S.-J.; Hashinaka, K.; Tsuneoka, K.; Saeki, T.; Nishio, C.; Sakiyama, F.; Tsunasawa, S.: Isolation and characterization of a cDNA coding for human myeloperoxidase. Arch. Biochem. Biophys. 255: 147-155, 1987.
[0021718]12306.Zaki, S. R.; Austin, G. E.; Chan, W. C.; Conaty, A. L.; Trusler, S.; Trappier, S.; Lindsey, R. B.; Swan, D. C.: Chromosomal localization of the human myeloperoxidase gene by in situ hybridization using oligonucleotide probes. Genes Chromosomes Cancer 2: 266-270, 1990.
[0021719]12307.Saiardi, A.; Erdjument-Bromage, H.; Snowman, A. M.; Tempst, P.; Snyder, S. H.: Synthesis of diphosphoinositol pentakisphosphate by a newly identified family of higher inositol polyphosphate kinases. Curr. Biol. 9: 1323-1326, 1999.
[0021720]12308.Saiardi, A.; Nagata, E.; Luo, H. R.; Snowman, A. M.; Snyder, S. H.: Identification and characterization of a novel inositol hexakisphosphate kinase. J. Biol. Chem. 276: 39179-39185, 2001.
[0021721]12309.Morrison, B. H.; Bauer, J. A.; Hu, J.; Grane, R. W.; Ozdemir, A. M.; Chawla-Sarkar, M.; Gong, B.; Almasan, A.; Kalvakolanu, D. V.; Lindner, D. J.: Inositol hexakisphosphate kinase 2 sensitizes ovarian carcinoma cells to multiple cancer therapeutics. Oncogene 21: 1882-1889, 2002.
[0021722]12310.Mole, S. E.; Mitchison, H. M.; Munroe, P. B.: Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5. Hum. Mutat. 14: 199-215, 1999.
[0021723]12311.Andermann, E.; Jakob, J. S.; Andermann, F.; Carpenter, S.; Wolfe, L.; Berkovic, S. F.: The Newfoundland aggregate of neuronal ceroid-lipofuscinosis. Am. J. Med. Genet. Suppl. 5: 111-116, 1988.
[0021724]12312.Andermann, E.; Scriver, C. R.; Wolfe, L. S.; Dansky, L.; Andermann, F.: Genetic variants of Tay-Sachs disease and Sandhoff's disease in French Canadians, juvenile Tay-Sachs disease in Lebanese Canadians, and a Tay-Sachs screening program in the French Canadian population.In: Kaback, M. M.; Rimoin, D. L.; O'Brien, J. S.: Tay-Sachs Disease: Screening and Prevention. New York: Alan R. Liss (pub.) 1977.
[0021725]12313.Berry-Kravis, E.; Sleat, D. E.; Sohar, I.; Meyer, P.; Donnelly, R.; Lobel, P.: Prenatal testing for late infantile neuronal ceroid lipofuscinosis. Ann. Neurol. 47: 254-257, 2000.
[0021726]12314.Brodsky, M. C.; Baker, R. S.; Hamed, L. M.: Pediatric Neuro-Ophthalmology. New York: Springer-Verlag , 1996. Pp. 374.
[0021727]12315.Donahue, S.; Zeman, W.; Watanabe, I.: Electron microscopic observations in Batten's disease.In: Aronson, S. M.; Volk, B. W.: Inborn Disorders of Sphingolipid Metabolism. Oxford: Pergamon Press (pub.) 1967. Pp. 3-22.
[0021728]12316.Gonatas, N. K.; Gambetti, P.; Baird, H.: A second type of late infantile amaurotic idiocy with multilamellar cytosomes. J. Neuropath. Exp. Neurol. 27: 371-389, 1968.
[0021729]12317.Komp, D. M.: Dr. Imperato-McGinley. (Letter) Lancet II: 262 only, 1979.
[0021730]12318.Leshin, M.; Griffin, J. E.; Wilson, J. D.: 5-Alpha-reductase deficiency: evidence for genetic heterogeneity. (Abstract) Clin. Res. 26: 47A only, 1978.
[0021731]12319.Leshin, M.; Griffin, J. E.; Wilson, J. D.: Hereditary male pseudohermaphroditism associated with an unstable form of 5-alpha-reductase. J. Clin. Invest. 62: 685-691, 1978.
[0021732]12320.Makridakis, N. M.; Ross, R. K.; Pike, M. C.; Crocitto, L. E.; Kolonel, L. N.; Pearce, C. L.; Henderson, B. E.; Reichardt, J. K. V.: Association of mis-sense substitution in SRD5A2 gene with prostate cancer in African-American and Hispanic men in Los Angeles, USA. Lancet 354: 975-978, 1999.
[0021733]12321.Moore, R. J.; Griffin, J. E.; Wilson, J. D.: Diminished 5-alpha-reductase activity in extracts of fibroblasts cultured from patients with familial incomplete male pseudohermaphroditism, type 2. J. Biol. Chem. 250: 7168-7172, 1975.
[0021734]12322.Balkan, W.; Oates, E. L.; Howard, G. A.; Roos, B. A.: Testes exhibit elevated expression of calcitonin gene-related peptide receptor component protein. Endocrinology 140: 1459-1469, 1999.
[0021735]12323.Evans, B. N.; Rosenblatt, M. I.; Mnayer, L. O.; Oliver, K. R.; Dickerson, I. M.: CGRPRCP, a novel protein required for signal transduction at calcitonin gene-related peptide and adrenomedullin receptors. J. Biol. Chem. 275: 31438-31443, 2000.
[0021736]12324.Guo, B.; Godzik, A.; Reed, J. C.: Bcl-G, a novel pro-apoptotic member of the Bcl-2 family. J. Biol. Chem. 276: 2780-2785, 2001.
[0021737]12325.Montpetit, A.; Boily, G.; Sinnett, D.: A detailed transcriptional map of the chromosome 12p12 tumour suppressor locus. Europ. J. Hum. Genet. 10: 62-71, 2002.
[0021738]12326.Katoh, M.: Molecular cloning and characterization of RNF26 on human chromosome 11q23 region, encoding a novel RING finger protein with leucine zipper. Biochem. Biophys. Res. Comm. 282: 1038-1044, 2001.
[0021739]12327.Nishida, K.; Yoshida, Y.; Itoh, M.; Fukada, T.; Ohtani, T.; Shirogane, T.; Atsumi, T.; Takahashi-Tezuka, M.; Ishihara, K.; Hibi, M.; Hirano, T.: Gab-family adapter proteins act downstream of cytokine and growth factor receptors and T- and B-cell antigen receptors. Blood 93: 1809-1816, 1999.
[0021740]12328.Zhao, C.; Yu, D.-H.; Shen, R.; Feng, G.-S.: Gab2, a new pleckstrin homology domaincontaining adapter protein, acts to uncouple signaling from ERK kinase to Elk-1. J. Biol. Chem. 274: 19649-19654, 1999.
[0021741]12329.Ge, K.; Xue, A.; Bai, J.; Wang, S.: Keshan disease-an endemic cardiomyopathy in China. Virchows Arch. 401: 1-15, 1983.
[0021742]12330.Lescure, A.; Gautheret, D.; Carbon, P.; Krol, A.: Novel selenoproteins identified in silico and in vivo by using a conserved RNA structural motif. J. Biol. Chem. 274: 38147-38154, 1999.
[0021743]12331.Frye, R. A.: Phylogenetic classification of prokaryotic and eukaryotic Sir2-like proteins. Biochem. Biophys. Res. Commun. 273: 793-798, 2000.
[0021744]12332.Berghs, S.; Aggujaro, D.; Dirkx, R., Jr.; Maksimova, E.; Stabach, P.; Hermel, J.-M.; Zhang, J.-P.; Philbrick, W.; Slepnev, V.; Ort, T.; Slimena, M.: Beta-IV spectrin, a new spectrin localized at axon initial segments and nodes of Ranvier in the central and peripheral nervous system. J. Cell Biol. 151: 985-1001, 2000.
[0021745]12333.Bock, G. R.; Frank, M. P.; Steel, K. P.; Deol, M. S.: The quivering mutant mouse: hereditary deafness of central origin. Acta Otolaryng. 96: 371-377, 1983.
[0021746]12334.Deol, M. S.; Frank, M. P.; Steel, K. P.; Bock, G. R.: Genetic deafness of central origin. Brain Res. 258: 177-179, 1983.
[0021747]12335.Parkinson, N. J.; Olsson, C. L.; Hallows, J. L.; McKee-Johnson, J.; Keogh, B. P.; Noben-Trauth, K.; Kujawa, S. G.; Tempel, B. L.: Mutant beta-spectrin 4 causes auditory and motor neuropathies in quivering mice. Nature Genet. 29: 61-65, 2001.
[0021748]12336.Tse, W. T.; Tang, J.; Jin, O.; Korsgren, C.; John, K. M.; Kung, A. L.; Gwynn, B.; Peters, L. L.; Lux, S. E.: A new spectrin, beta-IV, has a major truncated isoform that associates with promyelocytic leukemia protein nuclear bodies and the nuclear matrix. J. Biol. Chem. 276: 23974-23985, 2001.
[0021749]12337.Yoon, C. H.; Les, E. P.: Quivering, a new first chromosome mutation in mice. J. Hered. 48: 176-180, 1957.
[0021750]12338.Saitoh, T.; Katoh, M.: Molecular cloning and characterization of human WNT5B on chromosome 12p13.3 region. Int. J. Oncol. 19: 347-351, 2001.
[0021751]12339.Yousef, G. M.; Diamandis, M.; Jung, K.; Diamandis, E. P.: Molecular cloning of a novel human acid phosphatase gene (ACPT) that is highly expressed in the testis. Genomics 385-395, 2001.
[0021752]12340.Miyazaki, K.; Matsuda, S.; Ichigotani, Y.; Takenouchi, Y.; Hayashi, K.; Fukuda, Y.; Nimura, Y.; Hamaguchi, M.: Isolation and characterization of a novel human gene (NESH) which encodes a putative signaling molecule similar to e3B1 protein. Biochim. Biophys. Acta 1493: 237-241, 2000.
[0021753]12341.Gomez-Fabre, P. M.; Aledo, J. C.; del Castillo-Olivares, A.; Alonso, F. J.; Nunez de Castro, I.; Campos, J. A.; Marquez, J.: Molecular cloning, sequencing and expression studies of the human breast cancer cell glutaminase. Biochem. J. 345: 365-375, 2000.
[0021754]12342.Nosaka, K.; Onozuka, M.; Kakazu, N.; Hibi, S.; Nishimura, H.; Nishino, H.; Abe, T.: Isolation and characterization of a human thiamine pyrophosphokinase cDNA. Biochem. Biophys. Acta 1517: 293-297, 2001.
[0021755]12343.Nosaka, K.; Onozuka, M.; Nishino, H.; Nishimura, H.; Kawasaki, Y.; Ueyama, H.: Molecular cloning and expression of a mouse thiamin pyrophosphokinase cDNA. J. Biol. Chem. 274: 34129-34133, 1999.
[0021756]12344.Zhao, R.; Gao, F.; Goldman, I. D.: Molecular cloning of human thiamin pyrophosphokinase. Biochim. Biophys. Acta 1517: 320-322, 2001.
[0021757]12345.Gaire, M.; Chatton, B.; Kedinger, C.: Isolation and characterization of two novel, closely related ATF cDNA clones from HeLa cells. Nucleic Acids Res. 18: 3467-3473, 1990.
[0021758]12346.Lustig, L. R.; Peng, H.; Hiel, H.; Yamamoto, T.; Fuchs, P. A.: Molecular cloning and mapping of the human nicotinic acetylcholine receptor alpha-10 (CHRNA10). Genomics 73: 272-283, 2001.
[0021759]12347.Leader, B.; Leder, P.: Formin-2, a novel formin homology protein of the cappuccino subfamily, is highly expressed in the developing and adult central nervous system. Mech. Dev. 93: 221-231, 2000.
[0021760]12348.Mitsumoto, Y.; Oka, S.; Sakuma, H.; Inazawa, J.; Kawasaki, T.: Cloning and chromosomal mapping of human glucuronyltransferase involved in biosynthesis of the HNK-1 carbohydrate epitope. Genomics 65: 166-173, 2000.
[0021761]12349.Gilley, J.; Fried, M.: Extensive gene order differences within regions of conserved synteny between the Fugu and human genomes: implications for chromosomal evolution and the cloning of disease genes. Hum. Molec. Genet. 8: 1313-1320, 1999.
[0021762]12350.Harduin-Lepers, A.; Stokes, D. C.; Steelant, W. F. A.; Samyn-Petit, B.; Krzewinski-Recchi, M.-A.; Vallejo-Ruiz, V.; Zanetta, J.-P.; Auge, C.; Delannoy, P.: Cloning, expression and gene organization of a human Neu5Ac-alpha-2-3Gal-beta-1-3GalNAc alpha-2,6-sialyltransferase: hST6GalNAc IV. Biochem. J. 352: 37-48, 2000.
[0021763]12351.Bellorini, M.; Zemzoumi, K.; Farina, A.; Berthelsen, J.; Piaggio, G.; Mantovani, R.: Cloning and expression of human NF-YC. Gene 197: 119-125, 1997.
[0021764]12352.Dmitrenko, V.; Garifulin, O.; Kavsan, V.: Isolation and sequence analysis of the cDNA encoding subunit C of human CCAAT-binding transcription factor. Gene 197: 161-163, 1997.
[0021765]12353.Nakshatri, H.; Bhat-Nakshatri, P.; Currie, R. A.: Subunit association and DNA binding activity of the heterotrimeric transcription factor NF-Y is regulated by cellular redox. J. Biol. Chem. 271: 28784-28791, 1996.
[0021766]12354.Scott, A. F.: Personal Communication. Baltimore, Md. 10/16/2000.
[0021767]12355.Sinha, S.; Maity, S. N.; Seldin, M. F.; de Crombrugghe, B.: Chromosomal assignment and tissue expression of CBF-C/NFY-C, the third subunit of the mammalian CCAAT-binding factor. Genomics 37: 260-263, 1996.
[0021768]12356.Reboul, J.; Gardiner, K.; Monneron, D.; Uze, G.; Lutfalla, G.: Comparative genomic analysis of the interferon/interleukin-10 receptor gene cluster. Genome Res. 9: 242-250, 1999.
[0021769]12357.Chen, Q.; Ghilardi, N.; Wang, H.; Baker, T.; Xie, M.-H.; Gurney, A.; Grewal, I. S.; de Sauvage, F. J.: Development of Th1-type immune responses requires the type 1 cytokine receptor TCCR. Nature 407: 916-920, 2000.
[0021770]12358.Sprecher, C. A.; Grant, F. J.; Baumgartner, J. W.; Presnell, S. R.; Schrader, S. K.; Yamagiwa, T.; Whitmore, T. E.; O'Hara, P. J.; Foster, D. F.: Cloning and characterization of a novel class I cytokine receptor. Biochem. Biophys. Res. Comm. 246: 82-90, 1998.
[0021771]12359.Yoshida, H.; Hamano, S.; Senaldi, G.; Covey, T.; Faggioni, R.; Mu, S.; Xia, M.; Wakeham, A. C.; Nishina, H.; Potter, J.; Saris, C. J. M.; Mak, T. W.: WSX-1 is required for the initiation of Th1 responses and resistance to L. major infection. Immunity 15: 569-578, 2001.
[0021772]12360.Autieri, M. V.; Carbone, C. J.: 14-3-3-Gamma interacts with and is phosphorylated by multiple protein kinase C isoforms in PDGF-stimulated human vascular smooth muscle cells. DNA Cell Biol. 18: 555-564, 1999.
[0021773]12361.Yeh, W.-C.; de la Pompa, J. L.; McCurrach, M. E.; Shu, H.-B.; Elia, A. J.; Shahinian, A.; Ng, M.; Wakeham, A.; Khoo, W.; Mitchell, K.; El-Deiry, W. S.; Lowe, S. W.; Goeddel, D. V.; Mak, T. W.: FADD: essential for embryo development and signaling from some, but not all, inducers of apoptosis. Science 279: 1954-1958, 1998.
[0021774]12362.Zhang, J.; Cado, D.; Chen, A.; Kabra, N. H.; Winoto, A.: Fas-mediated apoptosis and activation-induced T-cell proliferation are defective in mice lacking FADD/Mort1. Nature 392: 296-300, 1998.
[0021775]12363.Hampe, W.; Rezgaoui, M.; Hermans-Borgmeyer, I.; Schaller, H. C. : The genes for the human VPS10 domain-containing receptors are large and contain many small exons. Hum. Genet. 108: 529-536, 2001.
[0021776]12364.Torres, R.; Polymeropoulos, M. H.: Genomic organization and localization of the human CRMP-1 gene. DNA Res. 5: 393-395, 1998.
[0021777]12365.Koyama, K.; Sudo, K.; Nakamura, Y.: Isolation of 115 human chromosome 8-specific expressed-sequence tags by exon amplification. Genomics 26: 245-253, 1995.
[0021778]12366.Woitach, J. T.; Hong, R.; Keck, C. L.; Zimonjic, D. B.; Popescu, N. C.; Thorgeirsson, S. S.: Assignment of the Bog gene (RBBP9) to syntenic regions of mouse chromosome 2G1-H1 and human chromosome 20p11.2 by fluorescence in situ hybridization. Cytogenet. Cell Genet. 85: 252-253, 1999.
[0021779]12367.Woitach, J. T.; Zhang, M.; Niu, C.-H.; Thorgeirsson, S. S.: A retinoblastoma-binding protein that affects cell-cycle control and confers transforming ability. Nature Genet. 19: 371-374, 1998.
[0021780]12368.Yokota, J.; Akiyama, T.; Fung, Y.-K. T.; Benedict, W. F.; Namba, Y.; Hanaoka, M.; Wada, M.; Terasaki, T.; Shimosato, Y.; Sugimura, T.; Terada, M.: Altered expression of the retinoblastoma (RB) gene in small-cell carcinoma of the lung. Oncogene 3: 471-475, 1988.
[0021781]12369.Katahira, J.; Sugiyama, H.; Inoue, N.; Horiguchi, Y.; Matsuda, M.; Sugimoto, N.: Clostridium perfringens enterotoxin utilizes two structurally related membrane proteins as functional receptors in vivo. J. Biol. Chem. 272: 26652-26658, 1997.
[0021782]12370.Furuse, M.; Fujita, K.; Hiiragi, T.; Fujimoto, K.; Tsukita, S. : Claudin-1 and -2: novel integral membrane proteins localizing at tight junctions with no sequence similarity to occludin. J. Cell Biol. 141: 1539-1550, 1998.
[0021783]12371.Peacock, R. E.; Keen, T. J.; Inglehearn, C. F.: Analysis of a human gene homologous to rat ventral prostate.1 protein. Genomics 46: 443-449, 1997.
[0021784]12372.Biffo, S.; Sanvito, F.; Costa, S.; Preve, L.; Pignatelli, R.; Spinardi, L.; Marchisio, P. C.: Isolation of a novel beta-4 integrin-binding protein (p27BBP) highly expressed in epithelial cells. J. Biol. Chem. 272: 30314-30321, 1997.
[0021785]12373.Sanvito, F.; Arrigo, G.; Zuffardi, O.; Agnelli, M.; Marchisio, P. C.; Biffo, S.: Localization of p27 beta-4 binding protein gene (ITGB4BP) to human chromosome region 20q11.2. Genomics 52: 111-112, 1998.
[0021786]12374.Si, K.; Chaudhuri, J.; Chevesich, J.; Maitra, U.: Molecular cloning and functional expression of a human cDNA encoding translation initiation factor 6. Proc. Nat. Acad. Sci. 94: 14285-14290, 1997.
[0021787]12375.Nuber, U.; Schwarz, S.; Kaiser, P.; Schneider, R.; Scheffner, M. : Cloning of human ubiquitin-conjugating enzymes UbcH6 and UbcH7 (E2-F1) and characterization of their interaction with E6-AP and RSP5. J. Biol. Chem. 271: 2795-2800, 1996.
[0021788]12376.Fuentes, J. J.; Pritchard, M. A.; Estivill, X.: Genomic organization, alternative splicing, and expression patterns of the DSCR1 (Down syndrome candidate region 1) gene. Genomics 44: 358-361, 1997.
[0021789]12377.Kingsbury, T. J.; Cunningham, K. W.: A conserved family of calcineurin regulators. Genes Dev. 14: 1595-1604, 2000.
[0021790]12378.Rothermel, B.; Vega, R. B.; Yang, J.; Wu, H.; Bassel-Duby, R.; Williams, R. S.: A protein encoded within the Down syndrome critical region is enriched in striated muscles and inhibits calcineurin signaling. J. Biol. Chem. 275: 8719-8725, 2000.
[0021791]12379.Pata, I.; Tensing, K.; Metspalu, A.: A human cDNA encoding the homologue of NADH:ubiquinone oxidoreductase subunit B13. Biochim. Biophys. Acta 1350: 115-118, 1997.
[0021792]12380.Russell, M. W.; du Manoir, S.; Collins, F. S.; Brody, L. C.: Cloning of the human NADH:ubiquinone oxidoreductase subunit B13: localization to chromosome 7q32 and identification of a pseudogene on 11p15. Mammalian Genome 8: 60-61, 1997.
[0021793]12381.Perez Jurado, L. A.; Wang, Y.-K.; Peoples, R.; Coloma, A.; Cruces, J.; Francke, U.: A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK. Hum. Molec. Genet. 7: 325-334, 1998.
[0021794]12382.Yang, W.; Desiderio, S.: BAP-135, a target for Bruton's tyrosine kinase in response to B cell receptor engagement. Proc. Nat. Acad. Sci. 94: 604-609, 1997.
[0021795]12383.Lee, J. W.; Choi, H.-S.; Gyuris, J.; Brent, R.; Moore, D. D.: Two classes of proteins dependent on either the presence or absence of thyroid hormone for interaction with the thyroid hormone receptor. Molec. Endocr. 9: 243-254, 1995.
[0021796]12384.Venturini, L.; You, J.; Stadler, M.; Galien, R.; Lallemand, V.; Koken, M. H. M.; Mattei, M. G.; Ganser, A.; Chambon, P.; Losson, R.; de The, H.: TIF1-gamma, a novel member of the transcriptional intermediary factor 1 family. Oncogene 18: 1209-1217, 1999.
[0021797]12385.Lesage, F.; Guillemare, E.; Fink, M.; Duprat, F.; Lazdunski, M.; Romey, G.; Barhanin, J.: TWIK-1, a ubiquitous human weakly inward rectifying K+ channel with a novel structure. EMBO J. 15: 1004-1011, 1996.
[0021798]12386.Lesage, F.; Mattei, M.-G.; Fink, M.; Barhanin, J.; Lazdunski, M. : Assignment of the human weak inward rectifier K+ channel TWIK-1 gene to chromosome 1q42-q43. Genomics 34: 153-155, 1996.
[0021799]12387.Chew, A.; Buck, E. A.; Peretz, S.; Sirugo, G.; Rinaldo, P.; Isaya, G.: Cloning, expression, and chromosomal assignment of the human mitochondrial intermediate peptidase gene (MIPEP). Genomics 40: 493-496, 1997.
[0021800]12388.Chew, A.; Sirugo, G.; Alsobrook, J. P., II; Isaya, G.: Functional and genomic analysis of the human mitochondrial intermediate peptidase, a putative protein partner of frataxin. Genomics 65: 104-112, 2000.
[0021801]12389.Isaya, G.; Kalousek, F.; Rosenberg, L. E.: Sequence analysis of rat mitochondrial intermediate peptidase: similarity to zinc metallopeptidases and to a putative yeast homologue. Proc. Nat. Acad. Sci. 89: 8317-8321, 1992.
[0021802]12390.Holzmann, K.; Poltl, A.; Sauermann, G.: A novel spliced transcript of human CLAPS2 encoding a protein alternative to clathrin adaptor protein AP17. Gene 220: 39-44, 1998.
[0021803]12391.Winterpacht, A.; Endele, S.; Enklaar, T.; Fuhry, M.; Zabel, B. : Human CLAPS2 encoding AP17, a small chain of the clathrin-associated protein complex: cDNA cloning and chromosomal assignment to 19q13.2-q13.3. Cytogenet. Cell Genet. 75: 132-135, 1996.
[0021804]12392.Alderson, M. R.; Smith, C. A.; Tough, T. W.; Davis-Smith, T.; Armitage, R. J.; Falk, B.; Roux, E.; Baker, E.; Sutherland, G. R.; Din, W. S.; Goodwin, R. G.: Molecular and biological characterization of human 4-1BB and its ligand. Europ. J. Immun. 24: 2219-2227, 1994.
[0021805]12393.Kwon, B. S.; Weissman, S. M.: cDNA sequences of two inducible T-cell genes. Proc. Nat. Acad. Sci. 86: 1963-1967, 1989.
[0021806]12394.Loo, D. T.; Chalupny, N. J.; Bajorath, J.; Shuford, W. W.; Mittler, R. S.; Aruffo, A.: Analysis of 4-1BBL and laminin binding to murine 4-1BB, a member of the tumor necrosis factor receptor superfamily, and comparison with human 4-1BB. J. Biol. Chem. 272: 6448-6456, 1997.
[0021807]12395.Schwarz, H.; Arden, K.; Lotz, M.: CD137, a member of the tumor necrosis factor receptor family, is located on chromosome 1p36, in a cluster of related genes, and colocalizes with several malignancies. Biochem. Biophys. Res. Commun. 235: 699-703, 1997.
[0021808]12396.Schwarz, H.; Blanco, F. J.; von Kempis, J.; Valbracht, J.; Lotz, M.: ILA, a member of the human nerve growth factor/tumor necrosis factor receptor family, regulates T-lymphocyte proliferation and survival. Blood 87: 2839-2845, 1996.
[0021809]12397.Schwarz, H.; Tuckwell, J.; Lotz, M.: A receptor induced by lymphocyte activation (ILA): a new member of the human nerve-growth-factor/tumor-necrosis-factor receptor family. Gene 134: 295-298, 1993.
[0021810]12398.Feuchter-Murthy, A. E.; Freeman, J. D.; Mager, D. L.: Splicing of a human endogenous retrovirus to a novel phospholipase A2 related gene. Nucleic Acids Res. 21: 135-143, 1993.
[0021811]12399.Kowalski, P. E.; Freeman, J. D.; Mager, D. L.: Intergenic splicing between a HERV-H endogenous retrovirus and two adjacent human genes. Genomics 57: 371-379, 1999.
[0021812]12400.Okano, M.; Xie, S.; Li, E.: Cloning and characterization of a family of novel mammalian DNA (cytosine-5) methyltransferases. (Letter) Nature Genet. 19: 219-220, 1998.
[0021813]12401.Robertson, K. D.; Uzvolgyi, E.; Liang, G.; Talmadge, C.; Sumegi, J.; Gonzales, F. A.; Jones, P. A.: The human DNA methyltransferases (DNMTs) 1, 3a and 3b: coordinate mRNA expression in normal tissues and overexpression in tumors. Nucleic Acids Res. 27: 2291-2298, 1999.
[0021814]12402.Xie, S.; Wang, Z.; Okano, M.; Nogami, M.; Li, Y.; He, W.-W.; Okumura, K.; Li, E.: Cloning, expression and chromosome locations of the human DNMT3 gene family. Gene 236: 87-95, 1999.
[0021815]12403.Moghadaszadeh, B.; Petit, N.; Jaillard, C.; Brockington, M.; Roy, S. Q.; Merlini, L.; Romero, N.; Estournet, B.; Desguerre, I.; Chaigne, D.; Muntoni, F.; Topaloglu, H.; Guicheney, P.: Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Nature Genet. 29: 17-18, 2001.
[0021816]12404.Jiang, R.; Lan, Y.; Chapman, H. D.; Shawber, C.; Norton, C. R.; Serreze, D. V.; Weinmaster, G.; Gridley, T.: Defects in limb, craniofacial, and thymic development in Jagged2 mutant mice. Genes Dev. 12: 1046-1057, 1998.
[0021817]12405.Lan, Y.; Jiang, R.; Shawber, C.; Weinmaster, G.; Gridley, T.: The Jagged2 gene maps to chromosome 12 and is a candidate for the lgl and sm mutations. Mammalian Genome 8: 875-876, 1997.
[0021818]12406.Lanford, P. J.; Lan, Y.; Jiang, R.; Lindsell, C.; Weinmaster, G.; Gridley, T.; Kelley, M. W.: Notch signalling pathway mediates hair cell development in mammalian cochlea. Nature Genet. 21: 289-292, 1999.
[0021819]12407.Luo, B.; Aster, J. C.; Hasserjian, R. P.; Kuo, F.; Sklar, J.: Isolation and functional analysis of a cDNA for human Jagged2, a gene encoding a ligand for the Notch1 receptor. Molec. Cell. Biol. 17: 6057-6067, 1997.
[0021820]12408.Misaki, Y.; Pruijn, G. J. M.; van der Kemp, A. W. C. M.; van Venrooij, W. J.: The 56K autoantigen is identical to human annexin XI. J. Biol. Chem. 269: 4240-4246, 1994.
[0021821]12409.Morgan, R. O.; Bell, D. W.; Testa, J. R.; Fernandez, M. P.: Genomic locations of ANX11 and ANX13 and the evolutionary genetics of human annexins. Genomics 48: 100-110, 1998.
[0021822]12410.Ono, T.; Kawabe, T.; Sonta, S.; Okamoto, T.: Assignment of MARK3 alias KP78 to human chromosome band 14q32.3 by in situ hybridization. Cytogenet. Cell Genet. 79: 101-102, 1997.
[0021823]12411.Parsa, I.: Loss of Mr 78,000 marker in chemically induced transplantable carcinomas and primary carcinoma of human pancreas. Cancer Res. 48: 2265-2272, 1988.
[0021824]12412.Peng, C.-Y.; Graves, P. R.; Ogg, S.; Thoma, R. S.; Byrnes, M. J., III; Wu, Z.; Stephenson, M. T.; Piwnica-Worms, H.: C-TAK1 protein kinase phosphorylates human Cdc25C on serine 216 and promotes 14-3-3 protein binding. Cell Growth Differ. 9: 197-208, 1998.
[0021825]12413.Shiratsuchi, T.; Nishimori, H.; Ichise, H.; Nakamura, Y.; Tokino, T.: Cloning and characterization of BAI2 and BAI3, novel genes homologous to brain-specific angiogenesis inhibitor 1 (BAI1). Cytogenet. Cell Genet. 79: 103-108, 1997.
[0021826]12414.Brubaker, K.; Cowley, S. M.; Huang, K.; Loo, L.; Yochum, G. S.; Ayer, D. E.; Eisenman, R. N.; Radhakrishnan, I.: Solution structure of the interacting domains of the Mad-Sin3 complex: implications for recruitment of a chromatin-modifying complex. Cell 103: 655-665, 2000.
[0021827]12415.Jin, D.-Y.; Kozak, C. A.; Pangilinan, F.; Spencer, F.; Green, E. D.; Jeang, K.-T.: Mitotic checkpoint locus MAD1L1 maps to human chromosome 7p22 and mouse chromosome 5. Genomics 55: 363-364, 1999.
[0021828]12416.Jin, D.-Y.; Spencer, F.; Jeang, K.-T.: Human T cell leukemia virus type 1 oncoprotein Tax targets the human mitotic checkpoint protein MAD1. Cell 93: 81-91, 1998.
[0021829]12417.Tsukasaki, K.; Miller, C. W.; Greenspun, E.; Eshaghian, S.; Kawabata, H.; Fujimoto, T.; Tomonaga, M.; Sawyers, C.; Said, J. W.; Koeffler, H. P.: Mutations in the mitotic check point gene, MAD1L1, in human cancers. Oncogene 20: 3301-3305, 2001.
[0021830]12418.Kimura, M.; Kotani, S.; Hattori, T.; Sumi, N.; Yoshioka, T.; Todokoro, T.; Okano, Y.: Cell cycle-dependent expression and spindle pole localization of a novel human protein kinase Aik, related to Aurora of Drosophila and yeast Ipl1. J. Biol. Chem. 272: 13766-13771, 1997.
[0021831]12419.Bhatt, R. R.; Ferrell, J. E., Jr.: The protein kinase p90 Rsk as an essential mediator of cytostatic factor activity. Science 286: 1362-1365, 1999.
[0021832]12420.Bonni, A.; Brunet, A.; West, A. E.; Datta, S. R.; Takasu, M. A.; Greenberg, M. E.: Cell survival promoted by the Ras-MAPK signaling pathway by transcription-dependent and -independent mechanisms. Science 286: 1358-1362, 1999.
[0021833]12421.Gross, S. D.; Schwab, M. S.; Lewellyn, A. L.; Maller, J. L.: Induction of metaphase arrest in cleaving Xenopus embryos by the protein kinase p90(Rsk). Science 286: 1365-1367, 1999.
[0021834]12422.Pende, M.; Kozma, S. C.; Jaquet, M.; Oorschot, V.; Burcelin, R.; Le Marchand-Brustel, Y.; Klumperman, J.; Thorens, B.; Thomas, G.: Hypoinsulinaemia, glucose intolerance and diminished beta-cell size in S6K1-deficient mice. Nature 408: 994-997, 2000.
[0021835]12423.Shima, H.; Pende, M.; Chen, Y.; Fumagalli, S.; Thomas, G.; Kozma, S. C.: Disruption of the p70(s6k)/p85(s6k) gene reveals a small mouse phenotype and a new functional S6 kinase. EMBO J. 17: 6649-6659, 1998.
[0021836]12424.Goustin, A. S.: Personal Communication. Detroit, Mich. 8/17/1998.
[0021837]12425.Chadwick, B. P.; Frischauf, A.-M.: The CD39-like gene family: identification of three new human members (CD39L2, CD39L3, and CD39L4), their murine homologues, and a member of the gene family from Drosophila melanogaster. Genomics 50: 357-367, 1998.
[0021838]12426.Kieffer, L. J.; Seng, T. W.; Li, W.; Osterman, D. G.; Handschumacher, R. E.; Bayney, R. M.: Cyclophilin-40, a protein with homology to the P59 component of the steroid receptor complex: cloning of the cDNA and further characterization. J. Biol. Chem. 268: 12303-12310, 1993.
[0021839]12427.Kieffer, L. J.; Thalhammer, T.; Handschumacher, R. E.: Isolation and characterization of a 40-kDa cyclophilin-related protein. J. Biol. Chem. 267: 5503-5507, 1992.
[0021840]12428.Ratajczak, T.; Woollatt, E.; Kumar, P.; Ward, B. K.; Minchin, R. F.; Baker, E.: Cyclophilin 40 (PPID) gene map position 4q31.3. Chromosome Res. 5: 151 only, 1997.
[0021841]12429.Yokoi, H.; Shimizu, Y.; Anazawa, H.; Lefebvre, C. A.; Korneluk, R. G.; Ikeda; J.-E.: The structure and complete nucleotide sequence of the human cyclophilin 40 (PPID) gene. Genomics 35: 448-455, 1996.
[0021842]12430.Gong, W.; Emanuel, B. S.; Collins, J.; Kim, D. H.; Wang, Z.; Chen, F.; Zhang, G.; Roe, B.; Budarf, M. L.: A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11. Hum. Molec. Genet. 5: 789-800, 1996.
[0021843]12431.Gong, W.; Emanuel, B. S.; Galili, N.; Kim, D. H.; Roe, B.; Driscoll, D. A.; Budarf, M. L.: Structural and mutational analysis of a conserved gene (DGSI) from the minimal DiGeorge syndrome critical region. Hum. Molec. Genet. 6: 267-276, 1997.
[0021844]12432.Lindsay, E. A.; Botta, A.; Jurecic, V.; Carattini-Rivera, S.; Cheah, Y.-C.; Rosenblatt, H. M.; Bradley, A.; Baldini, A.: Congenital heart disease in mice deficient for the DiGeorge syndrome region. Nature 401: 379-383, 1999.
[0021845]12433.Lindsay, E. A.; Harvey, E. L.; Scambler, P. J.; Baldini, A.: ES2, a gene deleted in DiGeorge syndrome, encodes a nuclear protein and is expressed during early mouse development, where it shares an expression domain with a Goosecoid-like gene. Hum. Molec. Genet. 7: 629-635, 1998.
[0021846]12434.Ray, M. E.; Su, Y. A.; Meltzer, P. S.; Trent, J. M.: Isolation and characterization of genes associated with chromosome-6 mediated tumor suppression in human malignant melanoma. Oncogene 12: 2527-2533, 1996.
[0021847]12435.Ray, M. E.; Wistow, G.; Su, Y. A.; Meltzer, P. S.; Trent, J. M. : AIM1, a novel nonlens member of the beta-gamma-crystallin superfamily, is associated with the control of tumorigenicity in human malignant melanoma. Proc. Nat. Acad. Sci. 94: 3229-3234, 1997.
[0021848]12436.Teichmann, U.; Ray, M. E.; Ellison, J.; Graham, C.; Wistow, G.; Meltzer, P. S.; Trent, J. M.; Pavan, W. J.: Cloning and tissue expression of the mouse ortholog of AIM1, a beta-gammacrystallin superfamily member. Mammalian Genome 9: 715-720, 1998.
[0021849]12437.Trent, J. M.; Stanbridge, E. J.; McBride, H. L.; Meese, E. U.; Casey, G.; Araujo, D. E.; Witkowski, C. M.; Nagle, R. B.: Tumorigenicity in human melanoma cell lines controlled by introduction of human chromosome 6. Science 247: 568-571, 1990.
[0021850]12438.Nakamura, Y.; Miura, K.; Fujino, Y.; Iwao, H.; Ogita, S.; Yamanaka, S.: Evolution, structure, and expression of GNPI/oscillin orthologous genes. Genomics 68: 179-186, 2000.
[0021851]12439.Rogers, M. J.; Ohgi, T.; Plumbridge, J.; Soll, D.: Nucleotide sequences of the E. coli nagE and nagB genes: the structural genes for the N-acetylglucosamine transport protein of the bacterial phosphoenolpyruvate: sugar phosphotransferase system and for glucosamine 6-phosphate deaminase. Gene 62: 197-207, 1988.
[0021852]12440.Shevchenko, V.; Hogben, M.; Ekong, R.; Parrington, J.; Lai, F. A.: The human glucosamine-6-phosphate deaminase gene: cDNA cloning and expression, genomic organization and chromosomal localization. Gene 216: 31-38, 1998.
[0021853]12441.Weidanz, J. A.; Campbell, P.; DeLucas, L. J.; Jin, J.; Moore, D.; Roden, L.; Yu, H.; Heilmann, E.; Vezza, A. C.: Glucosamine 6-phosphate deaminase in normal human erythrocytes. Brit. J. Haemat. 91: 72-79, 1995.
[0021854]12442.Bladergroen, B. A.; Strik, M. C. M.; Bovenschen, N.; van Berkum, O.; Scheffer, G. L.; Meijer, C. J. L. M.; Hack, C. E.; Kummer, J. A.: The granzyme B inhibitor, protease inhibitor 9, is mainly expressed by dendritic cells and at immune-privileged sites. J. Immun. 166: 3218-3225, 2001.
[0021855]12443.Eyre, H. J.; Sun, J.; Sutherland, G. R.; Bird, P.: Chromosomal mapping of the gene (PI9) encoding the intracellular serpin proteinase inhibitor 9 to 6p25 by fluorescence in situ hybridization. Genomics 37: 406-408, 1996.
[0021856]12444.Krieg, S. A.; Krieg, A. J.; Shapiro, D. J.: A unique downstream estrogen responsive unit mediates estrogen induction of proteinase inhibitor-9, a cellular inhibitor of IL-1-beta-converting enzyme (caspase 1). Molec. Endocr. 15: 1971-1982, 2001.
[0021857]12445.Sun, J.; Bird, C. H.; Sutton, V.; McDonald, L.; Coughlin, P. B.; De Jong, T. A.; Trapani, J. A.; Bird, P. I.: A cytosolic granzyme B inhibitor related to the viral apoptotic regulator cytokine response modifier A is present in cytotoxic lymphocytes. J. Biol. Chem. 271: 27802-27809, 1996.
[0021858]12446.Steimle, V.; Durand, B.; Barras, E.; Zuffrey, M.; Hadam, M. R.; Mach, B.; Reith, W.: A novel DNA binding regulatory factor is mutated in primary MHC class II deficiency (bare lymphocyte syndrome). Genes Dev. 9: 1021-1032, 1995.
[0021859]12447.Dode, L.; Wuytack, F.; Kools, P. F. J.; Baba-Aissa, F.; Raeymaekers, L.; Brik, F.; Van de Ven, W. J. M.; Casteels, R.: cDNA cloning, expression and chromosomal localization of the human sarco/endoplasmic reticulum Ca(2+)-ATPase 3 gene. Biochem. J. 318: 689-699, 1996.
[0021860]12448.Teumer, J.; Tseng, H.; Green, H.: The human basonuclin gene. Gene 188: 1-7, 1997.
[0021861]12449.Tseng, H.; Green, H.: Basonuclin: a keratinocyte protein with multiple paired zinc fingers. Proc. Nat. Acad. Sci. 89: 10311-10315, 1992.
[0021862]12450.Tseng, H.; Green, H.: Association of basonuclin with ability of keratinocytes to multiply and with absence of terminal differentiation. J. Cell Biol. 126: 495-506, 1994.
[0021863]12451.Gibson, L.; Holmgreen, S. P.; Huang, D. C. S.; Bernard, O.; Copeland, N. G.; Jenkins, N. A.; Sutherland, G. R.; Baker, E.; Adams, J. M.; Cory, S.: bcl-w, a novel member of the bcl-2 family, promotes cell survival. Oncogene 13: 665-675, 1996.
[0021864]12452.Ross, A. J.; Waymire, K. G.; Moss, J. E.; Parlow, A. F.; Skinner, M. K.; Russell, L. D.; MacGregor, G. R.: Testicular degeneration in Bclw-deficient mice. Nature Genet. 18: 251-256, 1998.
[0021865]12453.Freedman, M. S.; Lucas, R. J.; Soni, B.; von Schantz, M.; Munoz, M.; David-Gray, Z.; Foster, R.: Regulation of mammalian circadian behavior by non-rod, non-cone, ocular photoreceptors. Science 284: 502-504, 1999.
[0021866]12454.Griffin, E. A., Jr.; Staknis, D.; Weitz, C. J.: Light-independent role of CRY1 and CRY2 in the mammalian circadian clock. Science 286: 768-771, 1999.
[0021867]12455.Hsu, D. S.; Zhao, X.; Zhao, S.; Kazantsev, A.; Wang, R.-P.; Todo, T.; Wei, Y.-F.; Sancar, A.: Putative human blue-light photoreceptors hCRY1 and hCRY2 are flavoproteins. Biochemistry 35: 13871-13877, 1996.
[0021868]12456.Kobayashi, K.; Kanno, S.; Smit, B.; van der Horst, G. T. J.; Takao, M.; Yasui, A.: Characterization of photolyase/blue-light receptor homologs in mouse and human cells. Nucleic Acids Res. 26: 5086-5092, 1998.
[0021869]12457.Kume, K.; Zylka, M. J.; Sriram, S.; Shearman, L. P.; Weaver, D. R.; Jin, X.; Maywood, E. S.; Hastings, M. H.; Reppert, S. M.: mCRY1 and mCRY2 are essential components of the negative limb of the circadian clock feedback loop. Cell 98: 193-205, 1999.
[0021870]12458.Lucas, R. J.; Freedman, M. S.; Munoz, M.; Garcia-Fernandez, J.-M.; Foster, R. G.: Regulation of the mammalian pineal by non-rod, non-cone, ocular photoreceptors. Science 284: 505-507, 1999.
[0021871]12459.Okamura, H.; Miyake, S.; Sumi, Y.; Yamaguchi, S.; Yasui, A.; Muijtjens, M.; Hoeijmakers, J. H. J.; van der Horst, G. T. J.: Photic induction of mPer1 and mPer2 in Cry-deficient mice lacking a biological clock. Science 286: 2531-2534, 1999.
[0021872]12460.Reick, M.; Garcia, J. A.; Dudley, C.; McKnight, S. L.: NPAS2: an analog of clock operative in the mammalian forebrain. Science 293: 506-509, 2001.
[0021873]12461.van der Horst, G. T. J.; Muijtjens, M.; Kobayashi, K.; Takano, R.; Kanno, S.; Takao, M.; de Wit, J.; Verkerk, A.; Eker, A. P. M.; van Leenen, D.; Buijs, R.; Bootsma, D.; Hoeijmakers, J. H. J.; Yasui, A.: Mammalian Cry1 and Cry2 are essential for maintenance of circadian rhythms. Nature 398: 627-630, 1999.
[0021874]12462.Yagita, K.; Tamanini, F.; van der Horst, G. T. J.; Okamura, H. : Molecular mechanisms of the biological clock in cultured fibroblasts. Science 292: 278-281, 2001.
[0021875]12463.Villard, J.; Reith, W.; Barras, E.; Gos, A.; Morris, M. A.; Antonarakis, S. E.; Van den Elsen, P. J.; Mach, B.: Analysis of mutations and chromosomal localisation of the gene encoding RFX5, a novel transcription factor affected in major histocompatibility complex class II deficiency. Hum. Mutat. 10: 430-435, 1997.
[0021876]12464.Sipila, L.; Szatanik, M.; Vainionpaa, H.; Ruotsalainen, H.; Myllyla, R.; Guenet, J.-L.: The genes encoding mouse lysyl hydroxylase isoforms map to chromosomes 4, 5, and 9. Mammalian Genome 11: 1132-1134, 2000.
[0021877]12465.Szpirer, C.; Szpirer, J.; Riviere, M.; Vanvooren, P.; Valtavaara, M.; Myllyla, R.: Localization of the gene encoding a novel isoform of lysyl hydroxylase. Mammalian Genome 8: 707-708, 1997.
[0021878]12466.Valtavaara, M.; Papponen, H.; Pirttila, A.-M.; Hiltunen, K.; Helander, H.; Myllyla, R.: Cloning and characterization of a novel human lysyl hydroxylase isoform highly expressed in pancreas and muscle. J. Biol. Chem. 272: 6831-6834, 1997.
[0021879]12467.Hellborg, F.; Qian, W.; Mendez-Vidal, C.; Asker, C.; Kost-Alimova, M.; Wilhelm, M.; Imreh, S.; Wiman, K. G.: Human wig-1, a p53 target gene that encodes a growth inhibitory zinc finger protein. Oncogene 20: 5466-5474, 2001.
[0021880]12468.Varmeh-Ziaie, S.; Okan, I.; Wang, Y.; Magnusson, K. P.; Warthoe, P.; Strauss, M.; Wiman, K. G.: Wig-1, a new p53-induced gene encoding a zinc finger protein. Oncogene 15: 2699-2704, 1997.
[0021881]12469.Modregger, J.; Ritter, B.; Witter, B.; Paulsson, M.; Plomann, M. : All three PACSIN isoforms bind to endocytic proteins and inhibit endocytosis. J. Cell Sci. 113: 4511-4521, 2000.
[0021882]12470.Fardaei, M.; Rogers, M. T.; Thorpe, H. M.; Larkin, K.; Hamshere, M. G.; Harper, P. S.; Brook, J. D.: Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells. Hum. Molec. Genet. 11: 805-814, 2002.
[0021883]12471.Miller, J. W.; Urbinati, C. R.; Teng-umnuay, P.; Stenberg, M. G.; Byrne, B. J.; Thornton, C. A.; Swanson, M. S.: Recruitment of human muscleblind proteins to (CUG)n expansions associated with myotonic dystrophy. EMBO J. 19: 4439-4448, 2000.
[0021884]12472.Hu, C. C.; Fukae, M.; Uchida, T.; Qian, Q.; Zhang, C. H.; Ryu, O. H.; Tanabe, T.; Yamakoshi, Y.; Murakami, C.; Dohi, N.; Shimizu, M.; Simmer, J. P.: Cloning and characterization of porcine enamelin mRNAs. J. Dent. Res. 76: 1720-1729, 1997.
[0021885]12473.Hu, C. C.; Hart, T. C.; DuPont, B. R.; Chen, J. J.; Sun, X.; Qian, Q.; Zhang, C. H.; Jiang, H.; Mattern, V. L.; Wright, J. T.; Simmer, J. P.: Cloning human enamelin cDNA, chromosomal localization, and analysis of expression during tooth development. J. Dent. Res. 79: 912-919, 2000.
[0021886]12474.Kutty, R. K.; Kutty, G.; Samuel, W.; Duncan, T.; Bridges, C. C.; El-Sherbeeny, A.; Nagineni, C. N.; Smith, S. B.; Wiggert, B.: Molecular characterization and developmental expression of NORPEG, a novel gene induced by retinoic acid. J. Biol. Chem. 276: 2831-2840, 2001.
[0021887]12475.Aapola, U.; Shibuya, K.; Scott, H. S.; Ollila, J.; Vihinen, M.; Heino, M.; Shintani, A.; Kawasaki, K.; Minoshima, S.; Krohn, K.; Antonarakis, S. E.; Shimizu, N.; Kudoh, J.; Peterson, P.: Isolation and initial characterization of a novel zinc finger gene, DNMT3L, on 21q22.3, related to the cysteine-5-methyltransferase 3 gene family. Genomics 65: 293-298, 2000.
[0021888]12476.Bourc'his, D.; Xu, G.-L.; Lin, C.-S.; Bollman, B.; Bestor, T. H. : Dnmt3L and the establishment of maternal genomic imprints. Science 294: 2536-2539, 2001.
[0021889]12477.Chen, X.-B.; Melchionna, R.; Denis, C.-M.; Gaillard, P.-H. L.; Blasina, A.; Van de Weyer, I.; Boddy, M. N.; Russell, P.; Vialard, J.; McGowan, C. H.: Human Mus81-associated endonuclease cleaves Holliday junctions in vitro. Molec. Cell 8: 1117-1127, 2001.
[0021890]12478.Granjeaud, S.; Naquet, P.; Galland, F.: An ESTs description of the new vanin gene family conserved from fly to human. Immunogenetics 49: 964-972, 1999.
[0021891]12479.Wang, H.; Cao, R.; Xia, L.; Erdjument-Bromage, H.; Borchers, C.; Tempst, P.; Zhang, Y.: Purification and functional characterization of a histone H3-lysine 4-specific methyltransferase. Molec. Cell 8: 1207-1217, 2001.
[0021892]12480.Brockington, M.; Blake, D. J.; Prandini, P.; Brown, S. C.; Torelli, S.; Benson, M. A.; Ponting, C. P.; Estournet, B.; Romero, N. B.; Mercuri, E.; Voit, T.; Sewry, C. A.; Guicheney, P.; Muntoni, F.: Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha-2 deficiency and abnormal glycosylation of alpha-dystroglycan. Am. J. Hum. Genet. 69: 1198-1209, 2001.
[0021893]12481.Brockington, M.; Yuva, Y.; Prandini, P.; Brown, S. C.; Torelli, S.; Benson, M. A.; Herrmann, R.; Anderson, L. V. B.; Bashir, R.; Burgunder, J.-M.; Fallet, S.; Romero, N.; and 10 others: Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Hum. Molec. Genet. 10: 2851-2859, 2001.
[0021894]12482.Driss, A.; Amouri, C.; Hamida, C. B.; Souilem, N.; Gouider-Khouja, N.; Hamida, M. B.; Hentati, F.: A new locus for autosomal recessive limb girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3. Neuromusc. Disord. 10: 240-246, 2000.
[0021895]12483.Mercuri, E.; Sewry, C. A.; Brown, S. C.; Brockington, M.; Jungbluth, H. DeVile, C.; Counsell, S.; Manzur, A.; Muntoni, F.: Congenital muscular dystrophy with secondary merosin deficiency and normal brain MRI: a novel entity? Neuropediatrics 31: 186-189, 2000.
[0021896]12484.Monney, L.; Sabatos, C.; Gaglia, J. L.; Ryu, A.; Waldner, H.; Chernova, T.; Manning, S.; Greenfield, E. A.; Coyle, A. J.; Sobel, R. A.; Freeman, G. J.; Kuchroo, V. K.: Th1-specific cell surface protein regulates macrophage activation and severity of an autoimmune disease. Nature 415: 536-541, 2002.
[0021897]12485.Hsu, S. Y.; Kudo, M.; Chen, T.; Nakabayashi, K.; Bhalla, A.; van der Spek, P. J.; van Duin, M.; Hsueh, A. J. W.: The three subfamilies of leucine-rich repeat-containing G protein-coupled receptors (LGR): identification of LGR6 and LGR7 and the signaling mechanism for LGR7. Molec. Endocr. 14: 1257-1271, 2000.
[0021898]12486.Jourdan-Le Saux, C.; Le Saux, O.; Donlon, T.; Boyd, C. D.; Csiszar, K.: The human lysyl oxidase-related gene (LOXL2) maps between markers D8S280 and D8S278 on chromosome 8p21.2-p21.3. Genomics 51: 305-307, 1998.
[0021899]12487.Jourdan-Le Saux, C.; Tronecker, H.; Bogic, L.; Bryant-Greenwood, G. D.; Boyd, C. D.; Csiszar, K.: The LOXL2 gene encodes a new lysyl oxidase-like protein and is expressed at high levels in reproductive tissues. J. Biol. Chem. 274: 12939-12944, 1999.
[0021900]12488.Ikeda, K.; Sato, M.; Tsutsumi, O.; Tsuchiya, F.; Tsuneizumi, M.; Emi, M.; Imoto, I.; Inazawa, J.; Muramatsu, M.; Inoue, S.: Promoter analysis and chromosomal mapping of human EBAG9 gene. Biochem. Biophys. Res. Commun. 273: 654-660, 2000.
[0021901]12489.Nakashima, M.; Sonoda, K.; Watanabe, T.: Inhibition of cell growth and induction of apoptotic cell death by the human tumor-associated antigen RCAS1. Nature Med. 5: 938-942, 1999.
[0021902]12490.Kamohara, M.; Takasaki, J.; Matsumoto, M.; Saito, T.; Ohishi, T.; Ishii, H.; Furuichi, K.: Molecular cloning and characterization of another leukotriene B4 receptor. J. Biol. Chem. 275: 27000-27004, 2000.
[0021903]12491.Nilsson, N. E.; Tryselius, Y.; Owman, C.: Genomic organization of the leukotriene B4 receptor locus of human chromosome 14. Biochem. Biophys. Res. Commun. 274: 383-388, 2000.
[0021904]12492.Tryselius, Y.; Nilsson, N. E.; Kotarsky, K.; Olde, B.; Owman, C. : Cloning and characterization of cDNA encoding a novel human leukotriene B4 receptor. Biochem. Biophys. Res. Commun. 274: 377-382, 2000.
[0021905]12493.Wang, S.; Gustafson, E.; Pang, L.; Qiao, X.; Behan, J.; Maguire, M.; Bayne, M.; Laz, T.: A novel hepatointestinal leukotriene B4 receptor: cloning and functional characterization. J. Biol. Chem. 275: 40686-40694, 2000.
[0021906]12494.Yokomizo, T.; Kato, K.; Terawaki, K.; Izumi, T.; Shimizu, T.: A second leukotriene B4 receptor, BLT2: a new therapeutic target in inflammation and immunological disorders. J. Exp. Med. 192: 421-431, 2000.
[0021907]12495.Lai, F.; Orelli, B. J.; Till, B. G.; Godley, L. A.; Fernald, A. A.; Pamintuan, L.; Le Beau, M. M.: Molecular characterization of KLHL3, a human homologue of the Drosophila kelch gene. Genomics 66: 65-75, 2000.
[0021908]12496.Yang, X.-H.; Huang, S.: PFM1 (PRDM4), a new member of the PR-domain family, maps to a tumor suppressor locus on human chromosome 12q23-q24.1. Genomics 61: 319-325, 1999.
[0021909]12497.Jenkins, Z. A.; Haag, P. G.; Johansson, H. E.: Human EIF5A2 on chromosome 3q25-q27 is a phylogenetically conserved vertebrate variant of eukaryotic translation initiation factor 5A with tissue-specific expression. Genomics 71: 101-109, 2001.
[0021910]12498.Nakagawa, H.; Koyama, K.; Murata, Y.; Morito, M.; Akiyama, T.; Nakamura, Y.: EB3, a novel member of the EB1 family preferentially expressed in the central nervous system, binds to a CNS-specific APC homologue. Oncogene 19: 210-216, 2000.
[0021911]12499.Hocking, L. J.; Herbert, C. A.; Nicholls, R. K.; Williams, F.; Bennett, S. T.; Cundy, T.; Nicholson, G. C.; Wuyts, W.; Van Hul, W.; Ralston, S. H.: Genomewide search in familial Paget disease of bone shows evidence of genetic heterogeneity with candidate loci on chromosomes 2q36, 10p13, and 5q35. Am. J. Hum. Genet. 69: 1055-1061, 2001.
[0021912]12500.Collins, C. S.; Gould, S. J.: Identification of a common PEX1 mutation in Zellweger syndrome. Hum. Mutat. 14: 45-53, 1999.
[0021913]12501.Gartner, J.; Preuss, N.; Brosius, U.; Biermanns, M.: Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype. J. Inherit. Metab. Dis. 22: 311-313, 1999.
[0021914]12502.Imamura, A.; Tamura, S.; Shimozawa, N.; Suzuki, Y.; Zhang, Z.; Tsukamoto, T.; Orii, T.; Kondo, N.; Osumi, T.; Fujiki, Y.: Temperature-sensitive mutation in PEX1 moderates the phenotypes of peroxisome deficiency disorders. Hum. Molec. Genet. 7: 2089-2094, 1998.
[0021915]12503.Portsteffen, H.; Beyer, A.; Becker, E.; Epplen, C.; Pawlak, A.; Kunau, W.-H.; Dodt, G.: Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. Nature Genet. 17: 449-452, 1997.
[0021916]12504.Tamura, S.; Okumoto, K.; Toyama, R.; Shimozawa, N.; Tsukamoto, T.; Suzuki, Y.; Osumi, T.; Kondo, N.; Fujiki, Y.: Human PEX1 cloned by functional complementation in a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I. Proc. Nat. Acad. Sci. 95: 4350-4355, 1998.
[0021917]12505.Walter, C.; Gootjes, J.; Mooijer, P. A.; Portsteffen, H.; Klein, C.; Waterham, H. R.; Barth, P. G.; Epplen, J. T.; Kunau, W.-H.; Wanders, R. J. A.; Dodt, G.: Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels. Am. J. Hum. Genet. 69: 35-48, 2001.
[0021918]12506.Dunbar, D. R.; Shibasaki, Y.; Dobbie, L.; Andersson, B.; Brookes, A. J.: In situ hybridisation mapping of genomic clones for five human respiratory chain complex I genes. Cytogenet. Cell Genet. 78: 21-24, 1997.
[0021919]12507.Emahazion, T.; Brookes, A. J.: Mapping of the NDUFA2, NDUFA6, NDUFA7, NDUFB8, and NDUFS8 electron transport chain genes by intron based radiation hybrid mapping. Cytogenet. Cell Genet. 82: 114 only, 1998.
[0021920]12508.Ton, C.; Hwang, D. M.; Dempsey, A. A.; Liew, C.-C.: Identification and primary structure of five human NADH-ubiquinone oxidoreductase subunits. Biochem. Biophys. Res. Commun. 241: 589-594, 1997.
[0021921]12509.Cheng, H. F.; Jiang, M. J.; Chen, C. L.; Liu, S. M.; Wong, L. P.; Lomasney, J. W.; King, K.: Cloning and identification of amino acid residues of human phospholipase C delta 1 essential for catalysis. J. Biol. Chem. 270: 5495-5505, 1995.
[0021922]12510.Tsukiyama-Kohara, K.; Vidal, S. M.; Gingras, A.-C.; Glover, T. W.; Hanash, S. M.; Heng, H.; Sonenberg, N.: Tissue distribution, genomic structure, and chromosome mapping of mouse and human eukaryotic initiation factor 4E-binding proteins 1 and 2. Genomics 38: 353-363, 1996.
[0021923]12511.Lane, P. W.; Liu, H. M.: Association of megacolon with a new dominant spotting gene (Dom) in the mouse. J. Hered. 75: 435-439, 1984.
[0021924]12512.Lee, M.; Goodall, J.; Verastegui, C.; Ballotti, R.; Goding, C. R.: Direct regulation of the microphthalmia promoter by Sox10 links Waardenburg-Shah syndrome (WS4)-associated hypopigmentation and deafness to WS2. J. Biol. Chem. 275: 37978-37983, 2000.
[0021925]12513.Pingault, V.; Bondurand, N.; Kuhlbrodt, K.; Goerich, D. E.; Prehu, M.-O.; Puliti, A.; Herbarth, B.; Hermans-Borgmeyer, I.; Legius, E.; Matthijs, G.; Amiel, J.; Lyonnet, S.; Ceccherini, I.; Romeo, G.; Smith, J. C.; Read, A. P.; Wegner, M.; Goossens, M.: SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nature Genet. 18: 171-173, 1998.
[0021926]12514.Pingault, V.; Girard, M.; Bondurand, N.; Dorkins, H.; Van Maldergem, L.; Mowat, D.; Shimotake, T.; Verma, I.; Baumann, C.; Goossens, M. : SOX10 mutations in chronic intestinal pseudoobstruction suggest a complex physiopathological mechanism. Hum. Genet. 111: 198-206, 2002.
[0021927]12515.Pingault, V.; Puliti, A.; Prehu, M.-O.; Samadi, A.; Bondurand, N.; Goossens, M.: Human homology and candidate genes for the dominant megacolon locus, a mouse model of Hirschsprung disease. Genomics 39: 86-89, 1997.
[0021928]12516.Pingault, V., Guiochon-Mantel, A.; Bondurand, N.; Faure, C.; Lacroix, C.; Lyonnet, S.; Goossens, M.; Landrieu, P.: Peripheral neuropathy with hypomyelination, chronic intestinal pseudoobstruction and deafness: a developmental 'neural crest syndrome' related to a SOX10 mutation. Ann. Neurol. 48: 671-676, 2000.
[0021929]12517.Potterf, S. B.; Furumura, M.; Dunn, K. J.; Arnheiter, H.; Pavan, W. J.: Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3. Hum. Genet. 107: 1-6, 2000.
[0021930]12518.Southard-Smith, E. M.; Angrist, M.; Ellison, J. S.; Agarwala, R.; Baxevanis, A. D.; Chakravarti, A.; Pavan, W. J.: The Sox10(Dom) mouse: modeling the genetic variation of Waardenburg-Shah (WS4) syndrome. Genome Res. 9: 215-225, 1999.
[0021931]12519.Southard-Smith, E. M.; Kos, L.; Pavan, W. J.: Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model. Nature Genet. 18: 60-64, 1998.
[0021932]12520.Stock, D. W.; Buchanan, A. V.; Zhao, Z.; Weiss, K. M.: Numerous members of the Sox family of HMG box-containing genes are expressed in developing mouse teeth. Genomics 37: 234-237, 1996.
[0021933]12521.Wright, E. M.; Snopek, B.; Koopman, P.: Seven new members of the Sox gene family expressed during mouse development. Nucleic Acids Res. 21: 744 only, 1993.
[0021934]12522.Meluh, P. B.; Koshland, D.: Suppressors of MIF2, a putative centromere protein gene in Saccharomyces cerevisiae. (Abstract) Molec. Biol. Cell 6 (supp.): 360a only, 1995.
[0021935]12523.Meluh, P. B.; Koshland, D.: Evidence that the MIF2 gene of Saccharomyces cerevisiae encodes a centromere protein with homology to the mammalian centromere protein CENP-C. Molec. Biol. Cell 6: 793-807, 1995.
[0021936]12524.Cecconi, F.; Alvarez-Bolado, G.; Meyer, B. I.; Roth, K. A.; Gruss, P.: Apaf1 (CED-4 homolog) regulates programmed cell death in mammalian development. Cell 94: 727-737, 1998.
[0021937]12525.Hahn, C.; Hirsch, B.; Jahnke, D.; Durkop, H.; Stein, H.: Three new types of Apaf-1 in mammalian cells. Biochem. Biophys. Res. Commun. 261: 746-749, 1999.
[0021938]12526.Honarpour, N.; Du, C.; Richardson, J. A.; Hammer, R. E.; Wang, X.; Herz, J.: Adult Apaf-1-deficient mice exhibit male infertility. Dev. Biol. 218: 248-258, 2000.
[0021939]12527.Honarpour, N.; Gilbert, S. L.; Lahn, B. T.; Wang, X.; Herz, J. : Apaf-1 deficiency and neural tube closure defects are found in fog mice. Proc. Nat. Acad. Sci. 98: 9683-9687, 2001.
[0021940]12528.Kim, H.; Jung, Y. K.; Kwon, Y. K.; Park, S. H.: Assignment of apoptotic protease activating factor-1 gene (APAF1) to human chromosome band 12q23 by fluorescence in situ hybridization. Cytogenet. Cell Genet. 87: 252-253, 1999.
[0021941]12529.Watanabe, T. K.; Katagiri, T.; Suzuki, M.; Shimizu, F.; Fujiwara, T.; Kanemoto, N.; Nakamura, Y.; Hirai, Y.; Maekawa, H.; Takahashi, E.: Cloning and characterization of two novel human cDNAs (NELL1 and NELL2) encoding proteins with six EGF-like repeats. Genomics 38: 273-276, 1996.
[0021942]12530.Imataka, H.; Olsen, H. S.; Sonenberg. N.: A new translational regulator with homology to eukaryotic translation initiation factor 4G. EMBO J. 16: 817-825, 1997.
[0021943]12531.Levy-Strumpf, N.; Deiss, L. P.; Berissi, H.; Kimchi, A.: DAP-5, a novel homolog of eukaryotic translation initiation factor 4G isolated as a putative modulator of gamma interferon-induced programmed cell death. Molec. Cell. Biol. 17: 1615-1625, 1997.
[0021944]12532.Shaughnessy, J. D., Jr.; Jenkins, N. A.; Copeland, N. G.: cDNA cloning, expression analysis, and chromosomal localization of a gene with high homology to wheat eIF-(iso)4F and mammalian eIF-4G. Genomics 39: 192-197, 1997.
[0021945]12533.Yamanaka, S.; Poksay, K. S.; Arnold, K. S.; Innerarity, T. L.: A novel translational repressor mRNA is edited extensively in livers containing tumors caused by the transgene expression of the apoB mRNA-editing enzyme. Genes Dev. 11: 321-333, 1997.
[0021946]12534.Nomi, M.; Oishi, I.; Kani, S.; Suzuki, H.; Matsuda, T.; Yoda, A.; Kitamura, M.; Itoh, K.; Takeuchi, S.; Takeda, K.; Akira, S.; Ikeya, M.; Takada, S.; Minami, Y.: Loss of mRor1 enhances the heart and skeletal abnormalities in mRor2-deficient mice: redundant and pleiotropic functions of mRor1 and mRor2 receptor tyrosine kinases. Molec. Cell. Biol. 21: 8329-8335, 2001.
[0021947]12535.Korver, W.; Roose, J.; Heinen, K.; Weghuis, D. O.; de Bruijn, D.; Geurts van Kessel, A.; Clevers, H.: The human TRIDENT/HFH-11/FKHL16 gene: structure, localization, and promoter characterization. Genomics 46: 435-442, 1997.
[0021948]12536.Ly, D. H.; Lockhart, D. J.; Lerner, R. A.; Schultz, P. G.: Mitotic misregulation and human aging. Science 287: 2486-2492, 2000.
[0021949]12537.Wang, X.; Quail, E.; Hung, N.-J.; Tan, Y.; Ye, H.; Costa, R. H. : Increased levels of forkhead box M1B transcription factor in transgenic mouse hepatocytes prevent age-related proliferation defects in regenerating liver. Proc. Nat. Acad. Sci. 98: 11468-11473, 2001.
[0021950]12538.Westendorf, J. M.; Rao, P. N.; Gerace, L.: Cloning of cDNAs for M-phase phosphoproteins recognized by the MPM2 monoclonal antibody and determination of the phosphorylated epitope. Proc. Nat. Acad. Sci. 91: 714-718, 1994.
[0021951]12539.Yao, K.-M.; Sha, M.; Lu, Z.; Wong, G. G.: Molecular analysis of a novel winged helix protein, WIN: expression pattern, DNA binding property, and alternative splicing within the DNA binding domain. J. Biol. Chem. 272: 19827-19836, 1997.
[0021952]12540.Wang, X. S.; Diener, K.; Jannuzzi, D.; Trollinger, D.; Tan, T.-H.; Lichenstein, H.; Zukowski, M.; Yao, Z.: Molecular cloning and characterization of a novel protein kinase with a catalytic domain homologous to mitogen-activated protein kinase kinase kinase. J. Biol. Chem. 271: 31607-31611, 1996.
[0021953]12541.Venter, D. J.; Bevan, K. L.; Ludwig, R. L.; Riley, T. E.; Jat, P. S.; Thomas, D. G.; Noble, M. D.: Retinoblastoma gene deletions in human glioblastomas. Oncogene 6: 445-448, 1991.
[0021954]12542.Richard, G.; Lin, J. P.; Smith, L.; Whyte, Y. M.; Itin, P.; Wollina, U.; Epstein, E., Jr.; Hohl, D.; Giroux, J. M.; Charnas, L.; Bale, S. J.; DiGiovanna, J. J.: Linkage studies in erythrokeratodermias: fine mapping, genetic heterogeneity and analysis of candidate genes. J. Invest. Derm. 109: 666-671, 1997.
[0021955]12543.Richard, G.; Smith, L. E.; Bailey, R. A.; Itin, P.; Hohl, D.; Epstein, E. H., Jr.; DiGiovanna, J. J.; Compton, J. G.; Bale, S. J.: Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. Nature Genet. 20: 366-369, 1998.
[0021956]12544.Wenzel, K.; Manthey, D.; Willecke, K.; Grzeschik, K.-H.; Traub, O.: Human gap junction protein connexin31: molecular cloning and expression analysis. Biochem. Biophys. Res. Commun. 248: 910-915, 1998.
[0021957]12545.Chuaqui, R. F.; Englert, C. R.; Strup, S. E.; Vocke, C. D.; Zhuang, Z.; Duray, P. H.; Bostwick, D. G.; Linehan, W. M.; Liotta, L. A.; Emmert-Buck, M. R.: Identification of a novel transcript up-regulated in a clinically aggressive prostate carcinoma. Urology 50: 302-307, 1997.
[0021958]12546.Cole, K. A.; Chuaqui, R. F.; Katz, K.; Pack, S.; Zhuang, Z.; Cole, C. E.; Lyne, J. C.; Linehan, W. M.; Liotta, L. A.; Emmert-Buck, M. R.: cDNA sequencing and analysis of POV1 (PB39): a novel gene up-regulated in prostate cancer. Genomics 51: 282-287, 1998.
[0021959]12547.Bono, P.; Salmi, M.; Smith, D. J.; Leppanen, I.; Horelli-Kuitunen, N.; Palotie, A.; Jalkanen, S.: Isolation, structural characterization, and chromosomal mapping of the mouse vascular adhesion protein-1 gene and promoter. J. Immun. 161: 2953-2960, 1998.
[0021960]12548.Morris, N. J.; Ducret, A.; Aebersold, R.; Ross, S. A.; Keller, S. R.; Lienhard, G. E.: Membrane amine oxidase cloning and identification as a major protein in the adipocyte plasma membrane. J. Biol. Chem. 272: 9388-9392, 1997.
[0021961]12549.Bromme, D.; Rossi, A. B.; Smeekens, S. P.; Anderson, D. C.; Payan, D. G.: Human bleomycin hydrolase: molecular cloning, sequencing, functional expression, and enzymatic characterization. Biochemistry 35: 6706-6714, 1996.
[0021962]12550.Cloos, J.; Nieuwenhuis, E. J. C.; Boomsma, D. I.; Kuik, D. J.; van der Sterre, M. L. T.; Arwert, F.; Snow, G. B.; Braakhuis, B. J. M.: Inherited susceptibility to bleomycin-induced chromatid breaks in cultured peripheral blood lymphocytes. J. Nat. Cancer Inst. 91: 1125-1130, 1999.
[0021963]12551.Farrer, L. A.; Abraham, C. R.; Haines, J. L.; Rogaeva, E. A.; Song, Y.; McGraw, W. T.; Brindle, N.; Premkumar, S.; Scott, W. K.; Yamaoka, L. H.; Saunders, A. M.; Roses, A. D.; Auerbach, S. A.; Sorbi, S.; Duara, R.; Pericak-Vance, M. A.; St. George-Hyslop, P. H.: Association between bleomycin hydrolase and Alzheimer's disease in Caucasians. Ann. Neurol. 44: 808-811, 1998.
[0021964]12552.Ferrando, A. A.; Pendas, A. M.; Llano, E.; Velasco, G.; Lidereau, R.; Lopez-Otin, C.: Gene characterization, promoter analysis, and chromosomal localization of human bleomycin hydrolase. J. Biol. Chem. 272: 33298-33304, 1997.
[0021965]12553.Ferrando, A. A.; Velasco, G.; Campo, E.; Lopez-Otin, C.: Cloning and expression analysis of human bleomycin hydrolase, a cysteine proteinase involved in chemotherapy resistance. Cancer Res. 56: 1746-1750, 1996.
[0021966]12554.Haston, C. K.; Amos, C. I.; King, T. M.; Travis, E. L.: Inheritance of susceptibility to bleomycin-induced pulmonary fibrosis in the mouse. Cancer Res. 56: 2596-2601, 1996.
[0021967]12555.Hsu, T. C.; Johnston, D. A.; Cherry, L. M.; Ramkissoon, D.; Schantz, S. P.; Jessup, J. M.; Winn, R. J.; Shirley, L.; Furlong, C.: Sensitivity to genotoxic effects of bleomycin in humans: possible relationship to environmental carcinogenesis. Int. J. Cancer 43: 403-409, 1989.
[0021968]12556.Lazo, J. S.; Humphreys, C. J.: Lack of metabolism as the biochemical basis of bleomycin-induced pulmonary toxicity. Proc. Nat. Acad. Sci. 80: 3064-3068, 1983.
[0021969]12557.Montoya, S. E.; Aston, C. E.; DeKosky, S. T.; Kamboh, M. I.; Lazo, J. S.; Ferrell, R. E.: Bleomycin hydrolase is associated with risk of sporadic Alzheimer's disease. (Letter) Nature Genet. 18: 211-212, 1998. Note: Erratum: Nature Genet. 19: 404 only, 1998.
[0021970]12558.Montoya, S. E.; Ferrell, R. E.; Lazo, J. S.: Genomic structure and genetic mapping of the human neutral cysteine protease bleomycin hydrolase. Cancer Res. 57: 4191-4195, 1997.
[0021971]12559.Zheng, W.; Johnston, S. A.; Joshua-Tor, L.: The unusual active site of Gal6/bleomycin hydrolase can act as a carboxypeptidase, aminopeptidase, and peptide ligase. Cell 93: 103-109, 1998.
[0021972]12560.Xu, X.-N.; Screaton, G. R.; Gotch, F. M.; Dong, T.; Tan, R.; Almond, N.; Walker, B.; Stebbings, R.; Kent, K.; Nagata, S.; Stott, J. E.; McMichael, A. J.: Evasion of cytotoxic T lymphocyte (CTL) responses by Nef-dependent induction of Fas ligand (CD95L) expression on simian immunodeficiency virus-infected cells. J. Exp. Med. 186: 7-16, 1997.
[0021973]12561.Huang, L. J.; Durick, K.; Weiner, J. A.; Chun, J.; Taylor, S. S. : Identification of a novel protein kinase A anchoring protein that binds both type I and type II regulatory subunits. J. Biol. Chem. 272: 8057-8064, 1997.
[0021974]12562.Lin, R.-Y.; Moss, S. B.; Rubin, C. S.: Characterization of S-AKAP84, a novel developmentally regulated A kinase anchor protein of male germ cells. J. Biol. Chem. 270: 27804-27811, 1995.
[0021975]12563.Trendelenburg, G.; Hummel, M.; Riecken, E.-O.; Hanski, C.: Molecular characterization of AKAP149, a novel A kinase anchor protein with a KH domain. Biochem. Biophys. Res. Commun. 225: 313-319, 1996.
[0021976]12564.Moshous, D.; Callebaut, I.; de Chasseval, R.; Corneo, B.; Cavazzana-Calvo, M.; Le Deist, F.; Tezcan, I.; Sanal, O.; Bertrand, Y.; Philippe, N.; Fischer, A.; de Villartay, J.-P.: Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency. Cell 105: 177-186, 2001.
[0021977]12565.Chang, K.; Hanaoka, K.; Kumada, M.; Takuwa, Y.: Molecular cloning and functional analysis of a novel P2 nucleotide receptor. J. Biol. Chem. 270: 26152-26158, 1995.
[0021978]12566.Communi, D.; Parmentier, M.; Boeynaems, J.-M.: Cloning, functional expression and tissue distribution of the human P2Y6 receptor. Biochem. Biophys. Res. Commun. 222: 303-308, 1996.
[0021979]12567.Maier, R.; Glatz, A.; Mosbacher, J.; Bilbe, G.: Cloning of P2Y6 cDNAs and identification of a pseudogene: comparison of P2Y receptor subtype expression in bone and brain tissues. Biochem. Biophys. Res. Commun. 237: 297-302, 1997.
[0021980]12568.Pidlaoan, L. V.; Jin, J.; Sandhu, A. K.; Athwal, R. S.; Kunapuli, S. P.: Colocalization of P2Y2 and P2Y6 receptor genes at human chromosome 11q13.3-14.1. Somat. Cell Molec. Genet. 23: 291-296, 1997.
[0021981]12569.Cahill, D. P.; Lengauer, C.; Yu, J.; Riggins, G. J.; Willson, J. K. V.; Markowitz, S. D.; Kinzler, K. W.; Vogelstein, B.: Mutations of mitotic checkpoint genes in human cancers. Nature 392: 300-303, 1998.
[0021982]12570.Wang, B.; Kishihara, K.; Zhang, D.; Hara, H.; Nomoto, K.: Molecular cloning and characterization of a novel human receptor protein tyrosine phosphatase gene, hPTP-J: down-regulation of gene expression by PMA and calcium ionophore in Jurkat T lymphoma cells. Biochem. Biophys. Res. Commun. 231: 77-81, 1997.
[0021983]12571.Wang, H; Lian, Z; Lerch, M. M.; Chen, Z; Xie, W; Ullrich, A.: Characterization of PCP-2, a novel receptor protein tyrosine phosphatase of the MAM domain family. Oncogene 12: 2555-2562, 1996.
[0021984]12572.Chinnaiyan, A. M.; O'Rourke, K.; Tewari, M.; Dixit, V. M.: FADD, a novel death domain-containing protein, interacts with the death domain of Fas and initiates apoptosis. Cell 81: 505-512, 1995.
[0021985]12573.Kabra, N. H.; Kang, C.; Hsing, L. C.; Zhang, J.; Winoto, A.: T cell-specific FADDdeficient mice: FADD is required for early T cell development. Proc. Nat. Acad. Sci. 98: 6307-6312, 2001.
[0021986]12574.Herrscher, R. F.; Kaplan, M. H.; Lelsz, D. L.; Das, C.; Scheuermann, R.; Tucker, P. W.: The immunoglobulin heavy-chain matrix-associating regions are bound by Bright: a B cell-specific trans-activator that describes a new DNA-binding protein family. Genes Dev. 9: 3067-3082, 1995.
[0021987]12575.Kortschak, R. D.; Reimann, H.; Zimmer, M.; Eyre, H. J.; Saint, R.; Jenne, D. E.: The human dead ringer/bright homolog, DRIL1: cDNA cloning, gene structure, and mapping to D19S886, a marker on 19p13.3 that is strictly linked to the Peutz-Jeghers syndrome. Genomics 51: 288-292, 1998.
[0021988]12576.Kamei, M.; Webb, G. C.; Young, I. G.; Campbell, H. D.: SOLH, a human homologue of the Drosophila melanogaster small optic lobes gene is a member of the calpain and zinc-finger gene families and maps to human chromosome 16p13.3 near CATM (cataract with microphthalmia). Genomics 51: 197-206, 1998.
[0021989]12577.Eriksson, I.; Sandback, D.; Ek, B.; Lindahl, U.; Kjellen, L.: cDNA cloning and sequencing of mouse mastocytoma glucosaminyl N-deacetylase/N-sulfotransferase, an enzyme involved in the biosynthesis of heparin. J. Biol. Chem. 269: 10438-10443, 1994.
[0021990]12578.Forsberg, E.; Pejler, G.; Ringvall, M.; Lunderius, C.; Tomasini-Johansson, B.; Kusche-Gullberg, M.; Eriksson, I.; Ledin, J.; Hellman, L.; Kjellen, L.: Abnormal mast cells in mice deficient in a heparin-synthesizing enzyme. Nature 400: 773-776, 1999.
[0021991]12579.Humphries, D. E.; Lanciotti, J.; Karlinsky, J. B.: cDNA cloning, genomic organization and chromosomal localization of human heparan glucosaminyl N-deacetylase/N-sulphotransferase-2. Biochem. J. 332: 303-307, 1998.
[0021992]12580.Humphries, D. E.; Wong, G. W.; Friend, D. S.; Gurish, M. F.; Qiu, W.-T.; Huang, C.; Sharpe, A. H.; Stevens, R. L.: Heparin is essential for the storage of specific granule proteases in mast cells. Nature 400: 769-772, 1999.
[0021993]12581.Orellana, A.; Hirschberg, C. B.; Wei, Z.; Swiedler, S. J.; Ishihara, M.: Molecular cloning and expression of a glycosaminoglycan N-acetylglucosaminyl N-deacetylase/N-sulfotransferase from a heparin-producing cell line. J. Biol. Chem. 269: 2270-2276, 1994.
[0021994]12582.Zehnder, J. L.; Galli, S. J.: Mast-cell heparin demystified. Nature 400: 714-715, 1999.
[0021995]12583.Soret, J.; Gattoni, R.; Guyon, C.; Sureau, A.; Popielarz, M.; Le Rouzic, E.; Dumon, S.; Apiou, F.; Dutrillaux, B.; Voss, H.; Ansorge, W.; Stevenin, J.; Perbal, B.: Characterization of SRp46, a novel human SR splicing factor encoded by a PR264/SC35 retropseudogene. Molec. Cell. Biol. 18: 4924-4934, 1998.
[0021996]12584.Buell, G. N.; Talabot, F.; Gos, A.; Lorenz, J.; Lai, E.; Morris, M. A.; Antonarakis, S. E.: Gene structure and chromosomal localization of the human P2X7 receptor. Receptors Channels 5: 347-354, 1998.
[0021997]12585.Gu, B. J.; Zhang, W.; Worthington, R. A.; Sluyter, R.; Dao-Ung, P.; Petrou, S.; Barden, J. A.; Wiley, J. S.: A glu-496 to ala polymorphism leads to loss of function of the human P2X(7) receptor. J. Biol. Chem. 276: 11135-11142, 2001.
[0021998]12586.Rassendren, F.; Buell, G. N.; Virginio, C.; Collo, G.; North, R. A.; Surprenant, A.: The permeabilizing ATP receptor, P2X(7). J. Biol. Chem. 272: 5482-5486, 1997.
[0021999]12587.Solle, M.; Labasi, J.; Perregaux, D. G.; Stam, E.; Petrushova, N.; Koller, B. H.; Griffiths, R. J.; Gabel, C. A.: Altered cytokine production in mice lacking P2X7 receptors. J. Biol. Chem. 276: 125-132, 2001.
[0022000]12588.Wiley, J. S.; Dao-Ung, L. P.; Gu, B. J.; Sluyter, R.; Shemon, A. N.; Li, C.; Taper, J.; Gallo, J.; Manoharan, A.: A loss-of-function polymorphic mutation in the cytolytic P2X7 receptor gene and chronic lymphocyte leukaemia: a molecular study. Lancet 359: 1114-1119, 2002.
[0022001]12589.Worthington, R. A.; Smart, M. L.; Gu, B. J.; Williams, D. A.; Petrou, S.; Wiley, J. S.; Barden, J. A.: Point mutations confer loss of ATP-induced human P2X(7) receptor function. FEBS Lett. 512: 43-46, 2002.
[0022002]12590.Hobbs, C. A.; Sherman, S. L.; Yi, P.; Hopkins, S. E.; Torfs, C. P.; Hine, R. J.; Pogribna, M.; Rozen, R.; James, S. J.: Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome. Am. J. Hum. Genet. 67: 623-630, 2000.
[0022003]12591.James, S. J.; Pogribna, M.; Pogribny, I. P.; Melnyk, S.; Hine, R. J.; Gibson, J. B.; Yi, P.; Tafoya, D. L.; Swenson, D. H.; Wilson, V. L.; Gaylor, D. W.: Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase gene may be maternal risk factors for Down syndrome. Am. J. Clin. Nutr. 70: 495-501, 1999.
[0022004]12592.Leclerc, D.; Wilson, A.; Dumas, R.; Gafuik, C.; Song, D.; Watkins, D.; Heng, H. H. Q.; Rommens, J. M.; Scherer, S. W.; Rosenblatt, D. S.; Gravel, R. A.: Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria. Proc. Nat. Acad. Sci. 95: 3059-3064, 1998.
[0022005]12593.Wilson, A.; Leclerc, D.; Rosenblatt, D. S.; Gravel, R. A.: Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folate/cobalamin metabolism. Hum. Molec. Genet. 8: 2009-2016, 1999.
[0022006]12594.Wilson, A.; Platt, R.; Wu, Q.; Leclerc, D.; Christensen, B.; Yang, H.; Gravel, R. A.; Rozen, R.: A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida. Molec. Genet. Metab. 67: 317-323, 1999.
[0022007]12595.Lavedan, C.; Buchholtz, S.; Auburger, G.; Albin, R. L.; Athanassiadou, A.; Blancato, J.; Burguera, J. A.; Ferrell, R. E.; Kostic, V.; Leroy, E.; Leube, B.; Mota-Vieira, L.; and 9 others: Absence of mutation in the beta- and gamma-synuclein genes in familial autosomal dominant Parkinson's disease. DNA Research 5: 401-402, 1998.
[0022008]12596.Leek, J. P.; Hamlin, P. J.; Wilton, J.; Lench, N. J.: Assignment of the Rab13 gene (RAB13) to human chromosome band 12q13 by in situ hybridization. Cytogenet. Cell Genet. 79: 210-211, 1997.
[0022009]12597.Novick, P.; Zerial, M.: The diversity of Rab proteins in vesicle transport. Curr. Opin. Cell Biol. 9: 496-504, 1997.
[0022010]12598.Salminen, A.; Novick, P. J.: A ras-like protein is required for a post-Golgi event in yeast secretion. Cell 49: 527-538, 1987.
[0022011]12599.Zahraoui, A.; Joberty, G.; Arpin, M.; Fontaine, J. J.; Hellio, R.; Tavitian, A.; Louvard, D.: A small rab GTPase is distributed in cytoplasmic vesicles in nonpolarized cells but colocalizes with the tight junction marker ZO-1 in polarized epithelial cells. J. Cell. Biol. 124: 101-115, 1994.
[0022012]12600.Aurich-Costa, J.; Cadel, S.; Gouzy, C.; Foulon, T.; Cherif, D.; Cohen, P.: Assignment of the aminopeptidase B gene (RNPEP) to human chromosome 1 band q32 by in situ hybridization. Cytogenet. Cell Genet. 79: 143-144, 1997.
[0022013]12601.Cadel, S.; Foulon, T.; Viron, A.; Balogh, A.; Midol-Monnet, S.; Noel, N.; Cohen, P.: Aminopeptidase B from the rat testis is a bifunctional enzyme structurally related to leukotriene-A4 hydrolase. Proc. Nat. Acad. Sci. 94: 2963-2968, 1997.
[0022014]12602.Cadel, S.; Pierotti, A. R.; Foulton, T.; Creminon, C.; Barre, N.; Segretain, D.; Cohen, P.: Aminopeptidase-B in the rat testes: isolation, functional properties and cellular localization in the seminiferous tubules. Molec. Cell. Endocr. 110: 149-160, 1995.
[0022015]12603.Hopsu, V. K.; Kantonen, U. M.; Glenner, G. G.: A peptidase from rat tissues selectively hydrolyzing N-terminal arginine and lysine residues. Life Sci. 3: 1449-1453, 1964.
[0022016]12604.Jacquemin, P.; Martial, J. A.; Davidson, I.: Human TEF-5 is preferentially expressed in placenta and binds to multiple functional elements of the human chorionic somatomammotropin-B gene enhancer. J. Biol. Chem. 272: 12928-12937, 1997.
[0022017]12605.Jiang, S.-W.; Wu, K.; Eberhardt, N. L.: Human placental TEF-5 transactivates the human chorionic somatomammotropin gene enhancer. Molec. Endocr. 13: 879-889, 1999.
[0022018]12606.Bach, I.: The LIM domain: regulation by association. Mech. Dev. 91: 5-17, 2000.
[0022019]12607.Guy, P. M.; Kenny, D. A.; Gill, G. N.: The PDZ domain of the LIM protein enigma binds to beta-tropomyosin. Molec. Biol. Cell 10: 1973-1984, 1999.
[0022020]12608.Kuroda, S.; Tokunaga, C.; Kiyohara, Y.; Higuchi, O.; Konishi, H.; Mizuno, K.; Gill, G. N.; Kikkawa, U.: Protein-protein interaction of zinc finger LIM domains with protein kinase C. J. Biol. Chem. 271: 31029-31032, 1996.
[0022021]12609.Wu, R.-Y.; Gill, G. N.: LIM domain recognition of a tyrosine-containing tight turn. J. Biol. Chem. 269: 25085-25090, 1994.
[0022022]12610.Khoja, H.; Wang, G.; Ng, C.-T. L.; Tucker, J.; Brown, T.; Shyamala, V.: Cloning of CCRL1, an orphan seven transmembrane receptor related to chemokine receptors, expressed abundantly in the heart. Gene 246: 229-238, 2000.
[0022023]12611.Schweickart, V. L.; Epp, A.; Raport, C. J.; Gray, P. W.: CCR11 is a functional receptor for the monocyte chemoattractant protein family of chemokines. J. Biol. Chem. 275: 9550-9556, 2000. Note: Erratum: J. Biol. Chem. 276: 856 only, 2001.
[0022024]12612.Benn, P. A.; Shows, T. B.; D'Ancona, G. G.; Croce, C. M.; Orkwiszewski, K. G.; Mellman, W. J.: Assignment of a gene for uridine diphosphate galactose-4-epimerase to human chromosome 1 by somatic cell hybridization, with evidence for a regional assignment to 1pter-1p21. Cytogenet. Cell Genet. 24: 138-142, 1979.
[0022025]12613.Lin, M. S.; Oizumi, J.; Ng, W. G.; Alfi, O. S.; Donnell, G. N. : Regional mapping of the gene for human UDPGal 4-epimerase on chromosome 1 in mouse-human hybrids. Cytogenet. Cell Genet. 24: 217-223, 1979.
[0022026]12614.Lin, M. S.; Oizumi, J.; Ng, W. G.; Alfi, O. S.; Donnell, G. N. : Assignment of UDPgal-4-epimerase gene locus to chromosome 1 in man. (Abstract) Am. J. Hum. Genet. 30: 132 only, 1978.
[0022027]12615.Wang, W.; Zhou, Z.; Zhao, W.; Huang, Y.; Tang, R.; Ying, K.; Xie, Y.; Mao, Y.: Molecular cloning, mapping and characterization of the human neurocalcin delta gene (NCALD). Biochim. Biophys. Acta 1518: 162-167, 2001.
[0022028]12616.Gladyshev, V. N.; Liu, A.; Novoselov, S. V.; Krysan, K.; Sun, Q.-A.; Kryukov, V. M.; Kryukov, G. V.; Lou, M. F.: Identification and characterization of a new mammalian glutaredoxin (thioltransferase), Grx2. J. Biol. Chem. 276: 30374-30380, 2001.
[0022029]12617.Lundberg, M.; Johansson, C.; Chandra, J.; Enoksson, M.; Jacobsson, G.; Ljung, J.; Johansson, M.; Holmgren, A.: Cloning and expression of a novel human glutaredoxin (Grx2) with mitochondrial and nuclear isoforms. J. Biol. Chem. 276: 26269-26275, 2001.
[0022030]12618.Ungar, D.; Oka, T.; Brittle, E. E.; Vasile, E.; Lupashin, V. V.; Chatterton, J. E.; Heuser, J. E.; Krieger, M.; Waters, M. G.: Characterization of a mammalian Golgi-localized protein complex, COG, that is required for normal Golgi morphology and function. J. Cell Biol. 157: 405-415, 2002.
[0022031]12619.Walter, D. M.; Paul, K. S.; Waters, M. G.: Purification and characterization of a novel 13 S hetero oligomeric protein complex that stimulates in vitro Golgi transport. J. Biol. Chem. 273: 29565-29576, 1998.
[0022032]12620.Meuwissen, R. L. J.; Meerts, I.; Hoovers, J. M. N.; Leschot, N. J.; Heyting, C.: Human synaptonemal complex protein 1 (SCP1): isolation and characterization of the cDNA and chromosomal localization of the gene. Genomics 39: 377-384, 1997.
[0022033]12621.Meuwissen, R. L. J.; Offenberg, H. H.; Dietrich, A. J. J.; Riesewijk, A.; van Iersel, M.; Heyting, C.: A coiled-coil related protein specific for synapsed regions of meiotic prophase chromosomes. EMBO J. 11: 5091-5100, 1992.
[0022034]12622.Levedakou, E. N.; He, M.; Baptist, E. W.; Craven, R. J.; Cance, W. G.; Welcsh, P. L.; Simmons, A.; Naylor, S. L.; Leach, R. L.; Lewis, T. B.; Bowcock, A.; Liu, E. T.: Two novel human serine/threonine kinases with homologies to the cell cycle regulating Xenopus MO15, and NIMA kinases: cloning and characterization of their expression pattern. Oncogene 9: 1977-1988, 1994.
[0022035]12623.Kondoh, N.; Nishina, Y.; Tsuchida, J.; Koga, M.; Tanaka, H.; Uchida, K.; Inazawa, J.; Taketo, M.; Nozaki, M.; Nojima, H.; Matsumiya, K.; Namiki, M.; Okuyama, A.; Nishimune, Y.: Assignment of synaptonemal complex protein 1 (SCP1) to human chromosome 1p13 by fluorescence in situ hybridization and its expression in the testis. Cytogenet. Cell Genet. 78: 103-104, 1997.
[0022036]12624.Blondel, O.; Vandecasteele, G.; Gastineau, M.; Leclerc, S.; Dahmoune, Y.; Langlois, M.; Fischmeister, R.: Molecular and functional characterization of a 5-HT(4) receptor cloned from human atrium. FEBS Lett. 412: 465-474, 1997.
[0022037]12625.Claeysen, S.; Faye, P.; Sebben, M.; Lemaire, S.; Bockaert, J.; Dumuis, A.; Taviaux, S.: Assignment of 5-hydroxytryptamine receptor (HTR4) to human chromosome 5 bands q31-to-q33 by in situ hybridization. Cytogenet. Cell Genet. 78: 133-134, 1997.
[0022038]12626.Dumuis, A.; Bouhelal, R.; Sebben, M.; Cory, R.; Bockaert, J.: A nonclassical 5-hydroxytryptamine receptor positively coupled with adenylate cyclase in the central nervous system. Molec. Pharm. 34: 880-887, 1988.
[0022039]12627.Eglen, R. M.; Wong, E. H. F.; Dumuis, A.; Bockaert, J.: Central 5-HT4 receptors. Trends Pharm. Sci. 16: 391-398, 1995.
[0022040]12628.Isomura, T.; Tamiya-Koizumi, K.; Suzuki, M.; Yoshida, S.; Taniguchi, M.; Matsuyama, M.; Ishigaki, T.; Sakuma, S.; Takahashi, M.: RFP is a DNA binding protein associated with the nuclear matrix. Nucleic Acids Res. 20: 5305-5310, 1992.
[0022041]12629.Szpirer, C.; Szpirer, J.; Riviere, M.; Tazi, R.; Pontarotti, P. : Mapping of the Olf89 and Rfp genes to the rat genome: comparison with the mouse and human and new insights into the evolution of the rodent genome. Cytogenet. Cell Genet. 78: 137-139, 1997.
[0022042]12630.Adachi, O.; Kawai, T.; Takeda, K.; Matsumoto, M.; Tsutsui, H.; Sakagami, M.; Nakanishi, K.; Akira, S.: Targeted disruption of the MyD88 gene results in loss of IL-1- and IL-18-mediated function. Immunity 143-150, 1998.
[0022043]12631.Bonnert, T. P.; Garka, K. E.; Parnet, P.; Sonoda, G.; Testa, J. R.; Sims, J. E.: The cloning and characterization of human MyD88: a member of an IL-1 receptor related family. FEBS Lett. 402: 81-84, 1997.
[0022044]12632.Hardiman, G.; Jenkins, N. A.; Copeland, N. G.; Gilbert, D. J.; Garcia, D. K.; Naylor, S. L.; Kastelein, R. A.; Bazan, J. F.: Genetic structure and chromosomal mapping of MyD88. Genomics 45: 332-339, 1997.
[0022045]12633.Hayashi, F.; Smith, K. D.; Ozinsky, A.,; Hawn, T. R.; Yi, E. C.; Goodlett, D. R.; Eng, J. K.; Akira, S.; Underhill, D. M.; Aderem, A.: The innate immune response to bacterial flagellin is mediated by Toll-like receptor 5. Nature 410: 1099-1103, 2001.
[0022046]12634.Kawai, T.; Adachi, O.; Ogawa, T.; Takeda, K.; Akira, S.: Unresponsiveness of MyD88-deficient mice to endotoxin. Immunity 11: 115-122, 1999.
[0022047]12635.Lord, K. A.; Hoffman-Liebermann, B.; Liebermann, D. A.: Complexity of the immediate early response of myeloid cells to terminal differentiation and growth arrest includes ICAM-1, Jun-B and histone variants. Oncogene 5: 387-396, 1990.
[0022048]12636.Medzhitov, R.; Preston-Hurlburt, P.; Kopp, E.; Stadien, A.; Chen, C.; Ghosh, S.; Janeway, C. A., Jr.: MyD88 is an adaptor protein in the hToll/Il-1 receptor family signaling pathways. Molec. Cell 2: 253-258, 1998.
[0022049]12637.Ge, K.; Guermah, M.; Yuan, C.-X.; Ito, M.; Wallberg, A. E.; Spiegelman, B. M.; Roeder, R. G.: Transcription coactivator TRAP220 is required for PPAR-gamma-2-stimulated adipogenesis. Nature 417: 563-567, 2002.
[0022050]12638.Greene, M. E.; Blumberg, B.; McBride, O. W.; Yi, H. F.; Kronquist, K.; Kwan, K.; Hsieh, L.; Greene, G.; Nimer, S. D.: Isolation of the human peroxisome proliferator activated receptor gamma cDNA: expression in hematopoietic cells and chromosomal mapping. Gene Expr. 4: 281-299, 1995.
[0022051]12639.Hara, M.; Alcoser, S. Y.; Qaadir, A.; Beiswenger, K. K.; Cox, N. J.; Ehrmann, D. A.: Insulin resistance is attenuated in women with polycystic ovary syndrome with the Pro12Ala polymorphism in the PPAR-gamma gene. J. Clin. Endocr. Metab. 87: 772-775, 2002.
[0022052]12640.Harris, S. G.; Phipps, R. P.: Prostaglandin D2, its metabolite 15-d-PGJ2, and peroxisome proliferator activated receptor-gamma agonists induce apoptosis in transformed, but not normal, human T lineage cells. Immunology 105: 23-34, 2002.
[0022053]12641.Hasstedt, S. J.; Ren, Q.-F.; Teng, K.; Elbein, S. C.: Effect of the peroxisome proliferator-activated receptor-gamma-2 Pro12Ala variant on obesity, glucose homeostasis, and blood pressure in members of familial type 2 diabetic kindreds. J. Clin. Endocr. Metab. 86: 536-541, 2001.
[0022054]12642.Dabovic, B.; Chen, Y.; Colarossi, C.; Obata, H.; Zambuto, L.; Perle, M. A.; Rifkin, D. B.: Bone abnormalities in latent TGF-beta binding protein (Ltbp)-3-null mice indicate a role for Ltbp-3 in modulating TGF-beta bioavailability. J. Cell Biol. 156: 227-232, 2002.
[0022055]12643.Li, X.; Yin, W.; Perez-Jurado, L.; Bonadio, J.; Francke, U.: Mapping of human and murine genes for latent TGF-beta binding protein-2 (LTBP2). Mammalian Genome 6: 42-45, 1995.
[0022056]12644.Sawicki, M.; Arnold, E.; Ebrahimi, S.; Duell, T.; Jin, S.; Wood, T.; Chakrabarti, R.; Peters, J.; Wan, Y.; Samara, G.; Weier, H.-U. G.; Udar, N.; Passaro, E., Jr.; Srivatsan, E. S.: A transcript map encompassing the multiple endocrine neoplasia type-1 (MEN1) locus on chromosome 11q13. Genomics 42: 405-412, 1997.
[0022057]12645.Yin, W.; Smiley, E.; Germiller, J.; Mechan, R. P.; Florer, J. B.; Wenstrup, R. J.; Bonadio, J.: Isolation of a novel latent transforming growth factor-beta binding protein gene (LTBP-3). J. Biol. Chem. 270: 10147-10160, 1995.
[0022058]12646.Moren, A.; Olofsson, A.; Stenman, G.; Sahlin, P.; Kanzaki, T.; Claesson-Welsh, L.; ten Dijke, P.; Miyazono, K.; Heldin, C.-H.: Identification and characterization of LTBP-2, a novel latent transforming growth factor-beta-binding protein. J. Biol. Chem. 269: 32469-32478, 1994.
[0022059]12647.Fathallah, D. M.; Cherif, D.; Dellagi, K.; Arnaout, M. A.: Molecular cloning of a novel human hsp70 from a B cell line and its assignment to chromosome 5. J. Immun. 151: 810-813, 1993. Note: Erratum: J. Immun. 151: 6616 only, 1993.
[0022060]12648.Smith, S. A.; Holik, P.; Stevens, J.; Mazoyer, S.; Melis, R.; Williams, B.; White, R.; Albertsen, H.: Isolation of a gene (DLG3) encoding a second member of the discs-large family on chromosome 17q12-q21. Genomics 31: 145-150, 1996.
[0022061]12649.Wu, S.; Wright, R. A.; Rockey, P. K.; Burgett, S. G.; Arnold, J. S.; Rosteck, P. R., Jr.; Johnson, B. G.; Schoepp, D. D.; Belagaje, R. M.: Group III human metabotropic glutamate receptors 4, 7 and 8: molecular cloning, functional expression, and comparison of pharmacological properties in RGT cells. Molec. Brain Res. 53: 88-97, 1998.
[0022062]12650.Bram, R. J.; Crabtree, G. R.: Calcium signalling in T cells stimulated by a cyclophilin B-binding protein. Nature 371: 355-358, 1994.
[0022063]12651.Bram, R. J.; Valentine, V.; Shapiro, D. N.; Jenkins, N. A.; Gilbert, D. J.; Copeland, N. G.: The gene for calcium-modulating cyclophilin ligand (CAMLG) is located on human chromosome 5q23 and a syntenic region of mouse chromosome 13. Genomics 31: 257-260, 1996.
[0022064]12652.Bussemakers, M. J. G.; van Bokhoven, A.; Voller, M.; Smit, F. P.; Schalken, J. A.: The genes for the calcium-dependent cell adhesion molecules P- and E-cadherin are tandemly arranged in the human genome. Biochem. Biophys. Res. Commun. 203: 1291-1294, 1994.
[0022065]12653.Carmeliet, P.; Lampugnani, M.-G.; Moons, L.; Breviario, F.; Compernolle, V.; Bono, F.; Balconi, G.; Spagnuolo, R.; Oosthuyse, B.; Dewerchin, M.; Zanetti, A.; Angellilo, A.; and 11 others: Targeted deficiency of cytosolic truncation of the VE-cadherin gene in mice impairs VEGF-mediated endothelial survival and angiogenesis. Cell 98: 147-157, 1999.
[0022066]12654.Huber, P.; Dalmon, J.; Engiles, J.; Breviario, F.; Gory, S.; Siracusa, L. D.; Buchberg, A. M.; Dejana, E.: Genomic structure and chromosomal mapping of the mouse VE-cadherin gene (Cdh5). Genomics 32: 21-28, 1996.
[0022067]12655.Salomon, D.; Ayalon, O.; Patel-King, R.; Hynes, R. O.; Geiger, B.: Extrajunctional distribution of N-cadherin in cultured human endothelial cells. J. Cell Sci. 102: 7-17, 1992.
[0022068]12656.Stock, J. L.; Brown, R. S.; Baron, J.; Coderre, J. A.; Mancilla, E.; De Luca, F.; Ray, K.; Mericq, M. V.: Autosomal dominant hypoparathyroidism associated with short stature and premature osteoarthritis. J. Clin. Endocr. Metab. 84: 3036-3040, 1999.
[0022069]12657.Yamamoto, M.; Akatsu, T.; Nagase, T.; Ogata, E.: Comparison of hypocalcemic hypercalciuria between patients with idiopathic hypoparathyroidism and those with gain-of-function mutations in the calcium-sensing receptor: is it possible to differentiate the two disorders? J. Clin. Endocr. Metab. 85: 4583-4591, 2000.
[0022070]12658.Charrin, S.; Le Naour, F.; Oualid, M.; Billard, M.; Faure, G., Hanash, S. M.; Boucheix, C.; Rubinstein, E.: The major CD9 and CD81 molecular partner: identification and characterization of the complexes. J. Biol. Chem. 276: 14329-14337, 2001.
[0022071]12659.Nagase, T.; Kikuno, R.; Ishikawa, K.; Hirosawa, M.; Ohara, O.: Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. DNA Res. 7: 65-73, 2000.
[0022072]12660.Orlicky, D. J.; Berry, R.; Sikela, J. M.: Human chromosome 1 localization of the gene for a prostaglandin F-2-alpha receptor negative regulatory protein. Hum. Genet. 97: 655-658, 1996.
[0022073]12661.Stipp, C. S.; Orlicky, D.; Hemler, M. E.: FPRP, a major, highly stoichiometric, highly specific CD81- and CD9-associated protein. J. Biol. Chem. 276: 4853-4862, 2001.
[0022074]12662.Buller, C.; Xu, X.; Marquis, V.; Schwanke, R.; Xu, P.-X.: Molecular effects of Eya1 domain mutations causing organ defects in BOR syndrome. Hum. Molec. Genet. 10: 2775-2781, 2001.
[0022075]12663.Oliver, G.; Wehr, R.; Jenkins, N. A.; Copeland, N. G.; Cheyette, B. N. R.; Hartenstein, V.; Zipursky, S. L.; Gruss, P.: Homeobox genes and connective tissue patterning. Development 121: 693-705, 1995.
[0022076]12664.Casellas, R.; Jankovic, M.; Meyer, G.; Gazumyan, A.; Luo, Y.; Roeder, R. G.; Nussenzweig, M. C.: OcaB is required for normal transcription and V(D)J recombination of a subset of immunoglobulin kappa genes. Cell 110: 575-585, 2002.
[0022077]12665.Gstaiger, M.; Knoepfel, L.; Georgiev, O.; Schaffner, W.; Hovens, C. M.: A B-cell coactivator of octamer-binding transcription factors. Nature 373: 360-362, 1995.
[0022078]12666.Junker, S.; Brondum-Nielsen, K.; Newell, J. W.; Matthias, P.; Tommerup, N.: Assignment of the human gene for Oct-binding factor-1 (OBF1), a B-cell-specific coactivator of octamerbinding transcription factors 1 and 2, to 11q23.1 by somatic cell hybridization and in situ hybridization. Genomics 33: 143-145, 1996.
[0022079]12667.Holt, K. H.; Lim, L. E.; Straub, V.; Venzke, D. P.; Duclos, F.; Anderson, R. D.; Davidson, B. L.; Campbell, K. P.: Functional rescue of the sarcoglycan complex in the BIO 14.6 hamster using delta-sarcoglycan gene transfer. Molec. Cell 1: 841-848, 1998.
[0022080]12668.Moreira, E. S.; Vainzof, M.; Marie, S. K.; Nigro, V.; Zatz, M.; Passos-Bueno, M. R.: A first missense mutation in the delta-sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies. J. Med. Genet. 35: 951-953, 1998.
[0022081]12669.Nigro, V.; Moreira, E. S.; Piluso, G.; Vainzof, M.; Belsito, A.; Politano, L.; Puca, A. A.; Passos-Bueno, M. R.; Zatz, M.: Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. Nature Genet. 14: 195-198, 1996.
[0022082]12670.Han, L. Wong, D.; Dhaka, A.; Afar, D.; White, M.; Xie, W.; Herschman, H.; Witte, O.; Colicelli, J.: Protein binding and signaling properties of RIN1 suggest a unique effector function. Proc. Nat. Acad. Sci. 94: 4954-4959, 1997.
[0022083]12671.Leffers, H.; Madsen, P.; Rasmussen, H. H.; Honore, B.; Andersen, A. H.; Walbum, E.; Vandekerckhove, J.; Celis, J. E.: Molecular cloning and expression of the transformation sensitive epithelial marker stratifin: a member of a protein family that has been involved in the protein kinase C signalling pathway. J. Molec. Biol. 231: 982-998, 1993.
[0022084]12672.Jaspers, M.; Marynen, P.; Aly, M. S.; Cuppens, H.; Hilliker, C.; Cassiman, J.-J.: Localization of the gene encoding the alpha-2 subunit of the human VLA-2 receptor to chromosome 5q23-31. Somat. Cell Molec. Genet. 17: 505-511, 1991.
[0022085]12673.Yang, Y.; Hentati, A.; Deng, H.-X.; Dabbagh, O.; Sasaki, T.; Hirano, M.; Hung, W.-Y.; Ouahchi, K.; Yan, J.; Azim, A. C.; Cole, N.; Gascon, G.; Yagmour, A.; Ben-Hamida, M.; Pericak-Vance, M.; Hentati, F.; Siddique, T.: The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nature Genet. 29: 160-165, 2001. Note: Erratum: Nature Genet. 29: 352 only, 2001.
[0022086]12674.Akanuma, J.; Nishigaki, T.; Fujii, K.; Matsubara, Y.; Inui, K.; Takahashi, K.; Kure, S.; Suzuki, Y.; Ohura, T.; Miyabayashi, S.; Ogawa, E.; Iinuma, K.; Okada, S.; Narisawa, K.: Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells. Am. J. Med. Genet. 91: 107-112, 2000.
[0022087]12675.Hammond, J. W.; Potter, M.; Wilcken, B.; Truscott, R.: Siblings with gammaglutamyltransferase deficiency. J. Inherit. Metab. Dis. 18: 82-83, 1995.
[0022088]12676.Heisterkamp, N.; Groffen, J.: Duplication of the bcr and gamma-glutamyl transpeptidase genes. Nucleic Acids Res. 16: 8045-8056, 1988.
[0022089]12677.Laperche, Y.; Bulle, F.; Aissani, T.; Chobert, M. N.; Aggerbeck, M.; Hanoune, J.; Guellaen, G.: Molecular cloning and nucleotide sequence of rat kidney gamma-glutamyl transpeptidase cDNA. Proc. Nat. Acad. Sci. 83: 937-941, 1986.
[0022090]12678.O'Daley, S.: An abnormal sulphydryl compound in urine. (Abstract) Irish J. Med. Sci. 7: 578-579, 1968.
[0022091]12679.Pawlak, A.; Lahuna, O.; Bulle, F.; Suzuki, A.; Ferry, N.; Siegrist, S.; Chikhi, N.; Chobert, M. N.; Guellaen, G.; Laperche, Y.: Gamma-glutamyl transpeptidase: a single copy gene in the rat and a multigene family in the human genome. J. Biol. Chem. 263: 9913-9916, 1988.
[0022092]12680.Rouleau, G. A.; Bazanowski, A.; Cohen, E. H.; Guellaen, G.; Gusella, J. F.: Gammaglutamyl transferase locus (GGT) displays a PvuII polymorphism. Nucleic Acids Res. 16: 11848 only, 1988.
[0022093]12681.Sakamuro, D.; Yamazoe, M.; Matsuda, Y.; Kangawa, K.; Taniguchi, N.; Matsuo, H.; Yoshikawa, H.; Ogasawara, N.: The primary structure of human gamma-glutamyl transpeptidase. Gene 73: 1-9, 1988.
[0022094]12682.Schulman, J. D.; Goodman, S. I.; Mace, J. W.; Patrick, A. D.; Tietze, F.; Butler, E. J.: Glutathionuria: inborn error of metabolism due to tissue deficiency of gamma-glutamyl transpeptidase. Biochem. Biophys. Res. Commun. 65: 68-74, 1975.
[0022095]12683.Jaeken, J.; Goemans, N.; Fryns, J.-P.; Francois, I.; de Zegher, F.: Association of hyperprolinaemia type I and heparin cofactor II deficiency with CATCH 22 syndrome: evidence for a contiguous gene syndrome locating the proline oxidase gene. J. Inherit. Metab. Dis. 19: 275-277, 1996.
[0022096]12684.Fernie, B. A.; Wurzner, R.; Orren, A.; Morgan, B. P.; Potter, P. C.; Platonov, A. E.; Vershinina, I. V.; Shipulin, G. A.; Lachmann, P. J.; Hobart, M. J.: Molecular bases of combined subtotal deficiencies of C6 and C7: their effects in combination with other C6 and C7 deficiencies. J. Immun. 157: 3648-3657, 1996.
[0022097]12685.Berard-Badier, M.; Adechy-Benkoel, L.; Chamlian, A.; Dubois-Gambarelli, D.; Casanova, P.; Mariani, A.: Etude ultrastructurale du parenchyme hepatique dans les mucopolysaccharidoses. Path. Biol. (Paris) 18: 117-128, 1970.
[0022098]12686.Hoogeveen, A. T.; Verheijen, F. W.; d'Azzo, A.; Galjaard, H.: Genetic heterogeneity in human neuraminidase deficiency. Nature 285: 500-502, 1980.
[0022099]12687.Li, Y.-T.; Muhiudeen, I. A.; DeGasperi, R.; Hirabayashi, Y.; Li, S.-C.: Presence of activator proteins for the enzymic hydrolysis of GM1 and GM2 gangliosides in normal human urine. Am. J. Hum. Genet. 35: 629-634, 1983.
[0022100]12688.Lowden, J. A.; O'Brien, J. S.: Sialidosis: a review of human neuraminidase deficiency. Am. J. Hum. Genet. 31: 1-18, 1979.
[0022101]12689.Delepine, M.; Nicolino, M.; Barrett, T.; Golamaully, M.; Lathrop, G. M.; Julier, C.: EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome. Nature Genet. 25: 406-409, 2000.
[0022102]12690.Vasconcelos, O.; Sivakumar, K.; Dalakas, M. C.; Quezado, M.; Nagle, J.; Leon-Monzon, M.; Dubnick, M.; Gajdusek, D. C.; Goldfarb, L. G. : Nonsense mutation in the phosphofructokinase muscle subunit gene associated with retention of intron 10 in one of the isolated transcripts in Ashkenazi Jewish patients with Tarui disease. Proc. Nat. Acad. Sci. 92: 10322-10326, 1995.
[0022103]12691.Vora, S.; Corash, L.; Engel, W. K.; Durham, S.; Seaman, C.; Piomelli, S.: The molecular mechanism of the inherited phosphofructokinase deficiency associated with hemolysis and myopathy. Blood 55: 629-635, 1980.
[0022104]12692.Vora, S.; Durham, S.; de Martinville, B.; Francke, U.: Assignment of the human gene for muscle-type phosphofructokinase (PFKM) to chromosome 1 (region cen-q32) using somatic cell hybrids and monoclonal anti-M antibody. Somat. Cell Genet. 8: 95-104, 1982.
[0022105]12693.Vora, S.; Giger, U.; Turchen, S.; Harvey, J. W.: Characterization of the enzymatic lesion in inherited phosphofructokinase deficiency in the dog: an animal analogue of human glycogen storage disease type VII. Proc. Nat. Acad. Sci. 82: 8109-8113, 1985.
[0022106]12694.Vorgerd, M.; Karitzky, J.; Ristow, M.; Van Schaftingen, E.; Tegenthoff, M.; Jerusalem, F.; Malin, J. P.: Muscle phosphofructokinase deficiency in two generations. J. Neurol. Sci. 141: 95-99, 1996.
[0022107]12695.Yamasaki,; Nakajima, H.; Kono, N.; Hotta, K.; Yamada, K.; Imai, E.; Kuwajima, M.; Noguchi, T.; Tanaka, T.; Tarui, S.: Structure of the entire human muscle phosphofructokinase-encoding gene: a two-promoter system. Gene 104: 277-282, 1991.
[0022108]12696.Zanella, A.; Mariani, M.; Meola, G.; Fagnani, G.; Sirchia, G. : Phosphofructokinase (PFK) deficiency due to a catalytically inactive mutant M-type subunit. Am. J. Hemat. 12: 215-225, 1982.
[0022109]12697.Toda, T.; Yoshioka, M.; Nakahori, Y.; Kanazawa, I.; Nakamura, Y.; Nakagome, Y.: Genetic identity of Fukuyama-type congenital muscular dystrophy and Walker-Warburg syndrome. Ann. Neurol. 37: 99-101, 1995.
[0022110]12698.Aoufouchi, S.; Flatter, E.; Dahan, A.; Faili, A.; Bertocci, B.; Storck, S.; Delbos, F.; Cocea, L.; Gupta, N.; Weill, J.-C.; Reynaud, C.-A.: Two novel human and mouse DNA polymerases of the polX family. Nucleic Acids Res. 28: 3684-3693, 2000.
[0022111]12699.Murano, S.; Thweatt, R.; Reis, R. J. S.; Jones, R. A.; Moerman, E. J.; Goldstein, S.: Diverse gene sequences are overexpressed in Werner syndrome fibroblasts undergoing premature replicative senescence. Molec. Cell. Biol. 11: 3905-3914, 1991.
[0022112]12700.Harris, E. D.: Cellular copper transport and metabolism. Annu. Rev. Nutr. 20: 291-310, 2000.
[0022113]12701.Houwen, R. H. J.; Juyn, J.; Hoogenraad, T. U.; Ploos van Amstel, J. K.; Berger, R.: H714Q mutation in Wilson disease is associated with late, neurological presentation. J. Med. Genet. 32: 480-482, 1995.
[0022114]12702.Kusuda, Y.; Hamaguchi, K.; Mori, T.; Shin, R.; Seike, M.; Sakata, T.: Novel mutations of the ATP7B gene in Japanese patients with Wilson disease. J. Hum. Genet. 45: 86-91, 2000.
[0022115]12703.La Fontaine, S.; Theophilos, M. B.; Firth, S. D.; Gould, R.; Parton, R. G.; Mercer, J. F. B.: Effect of the toxic milk mutation (tx) on the function and intracellular localization of Wnd, the murine homologue of the Wilson copper ATPase. Hum. Molec. Genet. 10: 361-370, 2001.
[0022116]12704.Payne, A. S.; Kelly, E. J.; Gitlin, J. D.: Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation. Proc. Nat. Acad. Sci. 95: 10854-10859, 1998.
[0022117]12705.Petrukhin, K. E.; Lutsenko, S.; Chernov, I.; Ross, B. M.; Kaplan, J. H.; Gilliam, T. C.: Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions. Hum. Molec. Genet. 3: 1647-1656, 1994.
[0022118]12706.Reed, V.; Williamson, P.; Bull, P. C.; Cox, D. W.; Boyd, Y.: Mapping of the mouse homologue of the Wilson disease gene to mouse chromosome 8. Genomics 28: 573-575, 1995.
[0022119]12707.Wilson, D. C.; Phillips, M. J.; Cox, D. W.; Roberts, E. A.: Severe hepatic Wilson's disease in preschool-aged children. J. Pediat. 137: 719-722, 2000.
[0022120]12708.Wu, Z.-Y.; Wang, N.; Lin, M.-T.; Fang, L.; Murong, S.-X.; Yu, L.: Mutation analysis and the correlation between genotype and phenotype of arg778leu mutation in Chinese patients with Wilson disease. Arch. Neurol. 58: 971-976, 2001.
[0022121]12709.Li, S.; Strelow, A.; Fontana, E. J.; Wesche, H.: IRAK-4: a novel member of the IRAK family with the properties of an IRAK-kinase. Proc. Nat. Acad. Sci. 99: 5567-5572, 2002.
[0022122]12710.Scanlan, M. J.; Gordon, J. D.; Williamson, B.; Stockert, E.; Bander, N. H.; Jongeneel, V.; Gure, A. O.; Jager, D.; Jager, E.; Knuth, A.; Chen, Y.-T.; Old, L. J.: Antigens recognized by autologous antibody in patients with renal-cell carcinoma. Int. J. Cancer 83: 456-464, 1999.
[0022123]12711.Scott, A. F.: Personal Communication. Baltimore, Md. 4/25/2002.
[0022124]12712.Suzuki, N.; Suzuki, S.; Duncan, G. S.; Millar, D. G.; Wada, T.; Mirtsos, C.; Takada, H.; Wakeham, A.; Itie, A.; Li, S.; Penninger, J. M.; Wesche, H.; Ohashi, P. S.; Mak, T. W.; Yeh, W.-C.: Severe impairment of interleukin-1 and Toll-like receptor signalling in mice lacking IRAK-4. Nature 416: 750-754, 2002.
[0022125]12713.O'Brien, J. S.: Suggestions for a nomenclature for the GM2-gangliosidoses making certain (possibly unwarranted) assumptions. (Comments). Am. J. Hum. Genet. 30: 672-675, 1978.
[0022126]12714.Ohno, K.; Suzuki, K.: A splicing defect due to an exon-intron junctional mutation results in abnormal beta-hexosaminidase alpha chain mRNAs in Ashkenazi Jewish patients with Tay-Sachs disease. Biochem. Biophys. Res. Commun. 153: 463-469, 1988.
[0022127]12715.Ohno, K.; Suzuki, K.: Multiple abnormal beta-hexosaminidase alpha chain mRNAs in a compound-heterozygous Ashkenazi Jewish patient with Tay-Sachs disease. J. Biol. Chem. 263: 18563-18567, 1988.
[0022128]12716.Ohno, K.; Suzuki, K.: Mutation in GM2-gangliosidosis B1 variant. J. Neurochem. 50: 316-318, 1988.
[0022129]12717.Paw, B. H.; Kaback, M. M.; Neufeld, E. F.: Molecular basis of adult-onset and chronic G(M2) gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase. Proc. Nat. Acad. Sci. 86: 2413-2417, 1989.
[0022130]12718.Paw, B. H.; Moskowitz, S. M.; Uhrhammer, N.; Wright, N.; Kaback, M. M.; Neufeld, E. F.: Juvenile G(M2) gangliosidosis caused by substitution of histidine for arginine at position 499 or 504 of the alpha-subunit of beta-hexosaminidase. J. Biol. Chem. 265: 9452-9457, 1990.
[0022131]12719.Paw, B. H.; Wood, L. C.; Neufeld, E. F.: A third mutation at the CpG dinucleotide of codon 504 and a silent mutation at codon 506 of the HEX A gene. Am. J. Hum. Genet. 48: 1139-1146, 1991.
[0022132]12720.Pennybacker, M.; Liessem, B.; Moczall, H.; Tifft, C. J.; Sandhoff, K.; Proia, R. L.: Identification of domains in human beta-hexosaminidase that determine substrate specificity. J. Biol. Chem. 271: 17377-17382, 1996.
[0022133]12721.Petersen, G. M.; Rotter, J. I.; Cantor, R. M.; Field, L. L.; Greenwald, S.; Lim, J. S. T.; Roy, C.; Schoenfeld, V.; Lowden, J. A.; Kaback, M. M.: The Tay-Sachs disease gene in North American Jewish populations: geographic variations and origin. Am. J. Hum. Genet. 35: 1258-1269, 1983.
[0022134]12722.Petroulakis, E.; Cao, Z.; Clarke, J. T. R.; Mahuran, D. J.; Lee, G.; Triggs-Raine, B.: W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosis. Hum. Mutat. 11: 432-442, 1998.
[0022135]12723.Proia, R. L.; Kolodny, E. H.; Navon, R.: Reply to Kappler et al. (Letter) Am. J. Hum. Genet. 47: 881-882, 1990.
[0022136]12724.Proia, R. L.; Neufeld, E. F.: Synthesis of beta-hexosaminidase in cell-free translation and in intact fibroblasts: an insoluble precursor alpha chain in a rare form of Tay-Sachs disease. Proc. Nat. Acad. Sci. 79: 6360-6364, 1982.
[0022137]12725.Proia, R. L.; Soravia, E.: Organization of the gene encoding the human betahexosaminidase alpha-chain. J. Biol. Chem. 262: 5677-5681, 1987.
[0022138]12726.Raghavan, S. S.; Krusell, A.; Krusell, J.; Lyerla, T. A.; Kolodny, E. H.: G(M2)-ganglioside metabolism in hexosaminidase A deficiency states: determination in situ using labeled G(M2) added to fibroblast cultures. Am. J. Hum. Genet. 37: 1071-1082, 1985.
[0022139]12727.Shore, S.; Tomczak, J.; Grebner, E. E.; Myerowitz, R.: An unusual genotype in an Ashkenazi Jewish patient with Tay-Sachs disease. Hum. Mutat. 1: 486-490, 1992.
[0022140]12728.Strasberg, P.; Warren, I.; Skomorowski, M.-A.; Feigenbaum, A. : Homozygosity for the common Ashkenazi Jewish Tay-Sachs +1 IVS-12 splice-junction mutation: first report. Hum. Mutat. 10: 82-83, 1997.
[0022141]12729.Suzuki, Y.; Suzuki, K.: Partial deficiency of hexosaminidase component A in juvenile Gm(2)-gangliosidosis. Neurology 20: 848-851, 1970.
[0022142]12730.Radisky, D. C.; Snyder, W. B.; Emr, S. C.; Kaplan, J.: Characterization of VPS41, a gene required for vacuolar trafficking and high-affinity iron transport in yeast. Proc. Nat. Acad. Sci. 94: 5662-5666, 1997.
[0022143]12731.Arimura, T.; Nakamura, T.; Hiroi, S.; Satoh, M.; Takahashi, M.; Ohbuchi, N.; Ueda, K.; Nouchi, T.; Yamaguchi, N.; Akai, J.; Matsumori, A.; Sasayama, S.; Kimura, A.: Characterization of the human nebulette gene: a polymorphism in an actin-binding motif is associated with nonfamilial idiopathic dilated cardiomyopathy. Hum. Genet. 107: 440-451, 2000.
[0022144]12732.Millevoi, S.; Trombitas, K.; Kolmerer, B.; Kostin, S.; Schaper, J.; Pelin, K.; Granzier, H.; Labeit, S.: Characterization of nebulette and nebulin and emerging concepts of their roles for vertebrate Z-discs. J. Molec. Biol. 282: 111-123, 1998.
[0022145]12733.Popovici, C.; Mattei, M.-G.; Rattner, J. B.; Birnbaum, D.; Pebusque, M.-J.: Assignment of the centrosomal protein 110 gene (Cep110) to mouse chromosome bands 2B-C1 by in situ hybridization. Cytogenet. Cell Genet. 89: 216-217, 2000.
[0022146]12734.Shibanuma, M.; Mashimo, J.; Mita, A.; Kuroki, T.; Nose, K.: Cloning from a mouse osteoblastic cell line of a set of transforming-growth- factor-beta-1-regulated genes, one of which seems to encode a follistatin-related polypeptide. Europ. J. Biochem. 217: 13-19, 1993.
[0022147]12735.Tanaka, M.; Ozaki, S.; Osakada, F.; Mori, K.; Okubo, M.; Nakao, K.: Cloning of follistatin-related protein as a novel autoantigen in systemic rheumatic diseases. Int. Immun. 10: 1305-1314, 1998.
[0022148]12736.Zwijsen, A.; Blockx, H.; van Arnhem, W.; Willems, J.; Fransen, L.; Devos, K.; Raymackers, J.; van de Voorde, A.; Slegers, H.: Characterization of a rat C6 glioma-secreted follistatinrelated protein (FRP): cloning and sequence of the human homologue. Europ. J. Biochem. 225: 937-946, 1994.
[0022149]12737.Jaffrey, S. R.; Snowman, A. M.; Eliasson, M. J. L.; Cohen, N. A.; Snyder, S. H.: CAPON: a protein associated with neuronal nitric oxide synthase that regulates its interactions with PSD95. Neuron 115-124, 1998.
[0022150]12738.Thuresson, A.-C.; Astrom, J.; Astrom, A.; Gronvik, K.-O.; Virtanen, A.: Multiple forms of poly(A) polymerases in human cells. Proc. Nat. Acad. Sci. 91: 979-983, 1994.
[0022151]12739.Yamauchi, T.; Sugimoto, J.; Hatakeyama, T.; Asakawa, S.; Shimizu, N.; Isobe, M.: Assignment of the human poly(A) polymerase (PAP) gene to chromosome 14q32.1-q32.2 and isolation of a polymorphic CA repeat sequence. J. Hum. Genet. 44: 253-255, 1999.
[0022152]12740.Fort, M. M.; Cheung, J.; Yen, D.; Li, J.; Zurawski, S. M.; Lo, S.; Menon, S.; Clifford, T.; Hunte, B.; Lesley, R.; Muchamuel, T.; Hurst, S. D.; Zurawski, G.; Leach, M. W.; Gorman, D. M.; Rennick, D. M.: IL-25 induces IL-4, IL-5, and IL-13 and Th2-associated pathologies in vivo. Immunity 15: 985-995, 2001.
[0022153]12741.Scott, A. F.: Personal Communication. Baltimore, Md. 2/16/2001.
[0022154]12742.Boles, K. S.; Barten, R.; Kumaresan, P. R.; Trowsdale, J.; Mathew, P. A.: Cloning of a new lectin-like receptor expressed on human NK cells. Immunogenetics 50: 1-7, 1999.
[0022155]12743.Mori, T.; Fukuda, Y.; Kuroda, H.; Matsumura, T.; Ota, S.; Sugimoto, T.; Nakamura, Y.; Inazawa, J.: Cloning and characterization of a novel Rab-family gene, Rab36, within the region at 22q11.2 that is homozygously deleted in malignant rhabdoid tumors. Biochem. Biophys. Res. Commun. 254: 594-600, 1999.
[0022156]12744.Zhou, J.-Y.; Fogelgren, B.; Wang, Z.; Roe, B. A.; Biegel, J. A. : Isolation of genes from the rhabdoid tumor deletion region in chromosome band 22q11.2. Gene 241: 133-141, 2000.
[0022157]12745.Sood, R.; Makalowska, I.; Carpten, J. D.; Robbins, C. M.; Stephan, D. A.; Connors, T. D.; Morgenbesser, S. D.; Su, K.; Pinkett, H. W.; Graham, C. L.; Quesenberry, M. I.; Baxevanis, A. D.; Klinger, K. W.; Trent, J. M.; Bonner, T. I.: The human RGL (RalGDS-like) gene: cloning, expression analysis and genomic organization. Biochim. Biophys. Acta 1491: 285-288, 2000.
[0022158]12746.Acquati, F.; Accarino, M.; Nucci, C.; Fumagalli, P.; Jovine, L.; Ottolenghi, S.; Taramelli, R.: The gene encoding DRAP (BACE2), a glycosylated transmembrane protein of the aspartic protease family, maps to the Down syndrome critical region. FEBS Lett. 468: 59-64, 2000.
[0022159]12747.Bennett, B. D.; Babu-Khan, S.; Loeloff, R.; Louis, J.-C.; Curran, E.; Citron, M.; Vassar, R.: Expression analysis of BACE2 in brain and peripheral tissues. J. Biol. Chem. 275: 20647-20651, 2000.
[0022160]12748.Saunders, A. J.; Kim, T.-W.; Tanzi, R. E.: BACE maps to chromosome 11 and a BACE homolog, BACE2, reside in the obligate Down syndrome region of chromosome 21. Science 286: 1255A only, 1999.
[0022161]12749.Solans, A.; Estivill, X.; de la Luna, S.: A new aspartyl protease on 21q22.3, BACE2, is highly similar to Alzheimer's amyloid precursor protein beta-secretase. Cytogenet. Cell Genet. 89: 177-184, 2000.
[0022162]12750.Xin, H.; Stephans, J. C.; Duan, X.; Harrowe, G.; Kim, E.; Grieshammer, U.; Kingsley, C.; Giese, K.: Identification of a novel aspartic-like protease differentially expressed in human breast cancer cell lines. Biochim. Biophys. Acta 1501: 125-137, 2000.
[0022163]12751.An, G.; Ng, A. Y.; Meka, C. S. R.; Luo, G.; Bright, S. P.; Cazares, L.; Wright, G. L., Jr.; Veltri, R. W.: Cloning and characterization of UROC28, a novel gene overexpressed in prostate, breast, and bladder cancers. Cancer Res. 60: 7014-7020, 2000.
[0022164]12752.Kraemer, C.; Enklaar, T.; Zabel, B.; Schmidt, E. R.: Mapping and structure of DMXL1, a human homologue of the DmX gene from Drosophila melanogaster coding for a WD repeat protein. Genomics 64: 97-101, 2000.
[0022165]12753.Adamec, J.; Rusnak, F.; Owen, W. G.; Naylor, S.; Benson, L. M.; Gacy, A. M.; Isaya, G.: Iron-dependent self-assembly of recombinant yeast frataxin: implications for Friedreich ataxia. Am. J. Hum. Genet. 67: 549-562, 2000.
[0022166]12754.Campuzano, V.; Montermini, L.; Lutz, Y.; Cova, L.; Hindelang, C.; Jiralerspong, S.; Trottier, Y.; Kish, S. J.; Faucheux, B.; Trouillas, P.; Authier, F. J.; Durr, A.; Mandel, J.-L.; Vescovi, A.; Pandolfo, M.; Koenig, M.: Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. Hum. Molec. Genet. 6: 1771-1780, 1997.
[0022167]12755.Cavadini, P.; O'Neill, H. A.; Benada, O.; Isaya, G.: Assembly and iron-binding properties of human frataxin, the protein deficient in Friedrich ataxia. Hum. Molec. Genet. 11: 217-227, 2002.
[0022168]12756.Chamberlain, S.; Pook, M.; Carvajal, J.; Doudney, K.; Hillermann, R.: Frataxin fracas. (Letter) Nature Genet. 15: 337-338, 1997.
[0022169]12757.Cossee, M.; Campuzano, V.; Koutnikova, H.; Fischbeck, K.; Mandel, J.-L.; Koenig, M.; Bidichandani, S. I.; Patel, P. I.; Molte, M. D.; Canizares, J.; De Frutos, R.; Pianese, L.; Cavalcanti, F.; Monticelli, A.; Cocozza, S.; Montermini, L.; Pandolfo, M.: Frataxin fracas. (Letter) Nature Genet. 15: 337-338, 1997.
[0022170]12758.Bartles, J. R.; Wierda, A.; Zheng, L.: Identification and characterization of espin, an actin-binding protein localized to the F-actin-rich junctional plaques of Sertoli cell ectoplasmic specializations. J. Cell Sci. 109: 1229-1239, 1996.
[0022171]12759.Bartles, J. R.; Zheng, L.; Li, A.; Wierda, A.; Chen, B.: Small espin: a third actinbundling protein and potential forked protein ortholog in brush border microvilli. J. Cell Biol. 143: 107-119, 1998.
[0022172]12760.Chen, B.; Li, A.; Wang, D.; Wang, M.; Zheng, L.; Bartles, J. R. : Espin contains an additional actin-binding site in its N terminus and is a major actin-bundling protein of the Sertoli cellspermatid ectoplasmic specialization junctional plaque. Molec. Biol. Cell 10: 4327-4339, 1999.
[0022173]12761.Zheng, L.; Sekerkova, G.; Vranich, K.; Tilney, L. G.; Mugnaini, E.; Bartles, J. R.: The deaf jerker mouse has a mutation in the gene encoding the espin actin-bundling proteins of hair cell stereocilia and lacks espins. Cell 102: 377-385, 2000.
[0022174]12762.Eymard-Pierre, E.; Lesca, G.; Dollet, S.; Santorelli, F. M.; di Capua, M.; Bertini, E.; Boespflug-Tanguy, O.: Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. Am. J. Hum. Genet. 71: 518-527, 2002.
[0022175]12763.Hadano, S.: Personal Communication. Isehara, Japan 3/11/2002.
[0022176]12764.Shaw, P. J.: Genetic inroads in familial ALS. Nature Genet. 29: 103-104, 2001.
[0022177]12765.Illarioshkin, S. N.; Ivanova-Smolenskaya, I. A.; Tanaka, H.; Poleshchuk, V. V.; Markova, E. D.; Tsuji, S.: Refined genetic location of the chromosome 2p-linked progressive muscular dystrophy gene. Genomics 42: 345-348, 1997.
[0022178]12766.Illarioshkin, S. N.; Ivanova-Smolenskaya, I. A.; Tanaka, H.; Vereshchagin, N. V.; Markova, E. D.; Poleshchuk, V. V.; Lozhnikova, S. M.; Sukhorukov, V. S.; Limborska, S. A.; Slominsky, P. A.; Bulayeva, K. B.; Tsuji, S.: Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy. Brain 119: 1895-1909, 1996.
[0022179]12767.McNally, E. M.; Ly, C. T.; Rosenmann, H.; Rosenbaum, S. M.; Jiang, W.; Anderson, L. V. B.; Soffer, D.; Argov, Z.: Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation. Am. J. Med. Genet. 91: 305-312, 2000.
[0022180]12768.Weiler, T.; Greenberg, C. R.; Nylen, E.; Halliday, W.; Morgan, K.; Eggertson, D.; Wrogemann, K.: Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype. Am. J. Hum. Genet. 59: 872-878, 1996.
[0022181]12769.Azibi, K.: Personal Communication. Algiers, Algeria 8/1991.
[0022182]12770.Azibi, K.; Bachner, L.; Beckmann, J. S.; Matsumura, K.; Hamouda, E.; Chaouch, M.; Chaouch, A.; Ait-Ouarab, R.; Vignal, A.; Weissenbach, J.; Vinet, M.-C.; Leturcq, F.; Collin, H.; Tome, F. M. S.; Reghis, A.; Fardeau, M.; Campbell, K. P.; Kaplan, J.-C.: Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12. Hum. Molec. Genet. 2: 1423-1428, 1993.
[0022183]12771.Azibi, K.; Chaouch, M.; Reghis, A.; Vinet, M.-C.; Vignal, A.; Becuwe, N.; Beckman, J.; Seboun, E.; Nguyen, S.; Cometto, M.; Fardeau, M.; Tome, R.; Leturq, F.; Chafey, P.; Bachner, L.; Kaplan, J.-C.: Linkage analysis of 19 families with autosomal recessive (Duchenne-like) muscular dystrophy from Algeria. (Abstract) Cytogenet. Cell Genet. 58: 1907, 1991.
[0022184]12772.Ben Hamida, M.; Fardeau, M.; Attia, N.: Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia. Muscle Nerve 6: 469-480, 1983.
[0022185]12773.Ben Hamida, M.; Marrakchi, D.: Dystrophie musculaire progressive de type Duchenne en Tunisie: a propos de 13 familles et 31 cas d'une forme en apparence recessive autosomique. J. Genet. Hum. 28: 1-9, 1980.
[0022186]12774.Ben Jelloun-Dellagi, S.; Chaffey, P.; Hentati, F.; Ben Hamida, C.; Tome, F.; Colin, H.; Dellagi, K.; Kaplan, J. C.; Fardeau, M.; Ben Hamida, M.: Presence of normal dystrophin in Tunisian severe childhood autosomal recessive muscular dystrophy. Neurology 40: 1903, 1990.
[0022187]12775.Ben Othmane, K.; Ben Hamida, M.; Pericak-Vance, M. A.; Ben Hamida, C.; Blel, S.; Carter, S. C.; Bowcock, A. M.; Petruhkin, K.; Gilliam, T. C.; Roses, A. D.; Hentati, F.; Vance, J. M.: Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q. Nature Genet. 2: 315-317, 1992.
[0022188]12776.Ben Othmane, K.; Speer, M. C.; Stauffer, J.; Blel, S.; Middleton, L.; Ben Hamida, C.; Etribi, A.; Loeb, D.; Hentati, F.; Roses, A. D.; Ben Hamida, M.; Pericak-Vance, M. A.; Vance, J. M.: Evidence for linkage disequilibrium in chromosome 13-linked Duchenne-like muscular dystrophy (LGMD2C). (Letter) Am. J. Hum. Genet. 57: 732-734, 1995.
[0022189]12777.Crosbie, R. H.; Lim, L. E.; Moore, S. A.; Hirano, M.; Hays, A. P.; Maybaum, S. W.; Collin, H.; Dovico, S. A.; Stolle, C. A.; Fardeau, M.; Tome, F. M. S.; Campbell, K. P.: Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions. Hum. Molec. Genet. 9: 2019-2027, 2000.
[0022190]12778.Dubowitz, V.: Progressive muscular dystrophy of the Duchenne type in females and its mode of inheritance. Brain 83: 432-439, 1960.
[0022191]12779.El Kerch, F.; Sefiani, A.; Azibi, K.; Boutaleb, N.; Yahyaoui, M.; Bentahila, A.; Vinet, M.-C.; Leturcq, F.; Bachner, L.; Beckmann, J.; Campbell, K. P.; Tome, F. M. S.; Fardeau, M.; Kaplan, J.-C.: Linkage analysis of families with severe childhood autosomal recessive muscular dystrophy in Morocco indicates genetic homogeneity of the disease in North Africa. J. Med. Genet. 31: 342-343, 1994.
[0022192]12780.Fanin, M.; Hoffman, E. P.; Angelini, C.; Pegoraro, E.: Private beta- and gammasarcoglycan gene mutations: evidence of a founder effect in northern Italy. Hum. Mutat. 16: 13-17, 2000.
[0022193]12781.Fardeau, M.; Matsumura, K.; Tome, F. M. S.; Collin, H.; Leturcq, F.; Kaplan, J.-C.; Campbell, K. P.: Deficiency of the 50 kDa dystrophin associated glycoprotein (adhalin) in severe autosomal recessive muscular dystrophies in children native from European countries. C. R. Acad. Sci. Paris 316: 799-804, 1993.
[0022194]12782.Francke, U.; Darras, B. T.; Hersh, J. H.; Berg, B. O.; Miller, R. G.: Brother/sister pairs affected with early-onset, progressive muscular dystrophy: molecular studies reveal etiologic heterogeneity. Am. J. Hum. Genet. 45: 63-72, 1989.
[0022195]12783.Goonewardena, P.; Gustavson, K.-H.; Gamstorp, I.; Lundstrom, N.-R.; Pettersson, U.: A new type of muscular dystrophy in two brothers: analysis by use of DNA probes suggests autosomal recessive inheritance. Clin. Genet. 34: 299-305, 1988.
[0022196]12784.Augustin, I.; Betz, A.; Herrmann, C.; Jo, T.; Brose, N.: Differential expression of two novel Munc13 proteins in rat brain. Biochem. J. 337: 363-371, 1999.
[0022197]12785.Augustin, I.; Rosenmund, C.; Sudhof, T. C.; Brose, N.: Munc13-1 is essential for fusion competence of glutamatergic synaptic vesicles. Nature 400: 457-461, 1999.
[0022198]12786.Rhee, J.-S.; Betz, A.; Pyott, S.; Reim, K.; Varoqueaux, F.; Augustin, I.; Hesse, D.; Sudhof, T. C.; Takahashi, M.; Rosenmund, C.; Brose, N.: Beta phorbol ester- and diacylglycerol-induced augmentation of transmitter release is mediated by Munc13s and not by PKCs. Cell 108: 121-133, 2002.
[0022199]12787.Rosenmund, C.; Sigler, A.; Augustin, I.; Reim, K.; Brose, N.; Rhee, J.-S.: Differential control of vesicle priming and short-term plasticity by Munc13 isoforms. Neuron 33: 411-424, 2002.
[0022200]12788.Song, Y.; Ailenberg, M.; Silverman, M.: Cloning of a novel gene in the human kidney homologous to rat munc13s: its potential role in diabetic nephropathy. Kidney Int. 53: 1689-1695, 1998.
[0022201]12789.Parker, N. J.; Begley, C. G.; Smith, P. J.; Fox, R. M.: Molecular cloning of a novel human gene (D11S4896E) at chromosomal region 11p15.5. Genomics 37: 253-256, 1996.
[0022202]12790.Sabbioni, S.; Veronese, A.; Trubia, M.; Taramelli, R.; Barbanti-Brodano, G.; Croce, C. M.; Negrini, M.: Exon structure and promoter identification of STIM1 (alias GOK), a human gene causing growth arrest of the human tumor cell lines G401 and RD. Cytogenet. Cell. Genet. 86: 214-218, 1999.
[0022203]12791.Yoshikawa, T.; Padigaru, M.; Karkera, J. D.; Sharma, M.; Berrettini, W. H.; Esterling, L. E.; Detera-Wadleigh, S. D.: Genomic structure and novel variants of myo-inositol monophosphatase 2 (IMPA2). Molec. Psychiat. 5: 165-171, 2000.
[0022204]12792.Yoshikawa, T.; Turner, G.; Esterling, L. E.; Sanders, A. R.; Detera-Wadleigh, S. D.: A novel human myo-inositol monophosphatase gene, IMP.18p, maps to a susceptibility region for bipolar disorder. Molec. Psychiat. 2: 393-397, 1997.
[0022205]12793.Michaud, J.; Kudoh, J.; Berry, A.; Bonne-Tamir, B.; Lalioti, M. D.; Rossier, C.; Shibuya, K.; Kawasaki, K.; Asakawa, S.; Minoshima, S.; Shimizu, N.; Antonarakis, S. E.; Scott, H. S.: Isolation and characterization of a human chromosome 21q22.3 gene (WDR4) and its mouse homologue that code for a WD-repeat protein. Genomics 68: 71-79, 2000.
[0022206]12794.Boudin, H.; Doan, A.; Xia, J.; Shigemoto, R.; Huganir, R. L.; Worley, P.; Craig, A. M.: Presynaptic clustering of mGluR7a requires the PICK1 PDZ domain binding site. Neuron 28: 485-497, 2000.
[0022207]12795.Dev, K. K.; Nishimune, A.; Henley, J. M.; Nakanishi, S.: The protein kinase C-alpha binding protein PICK1 interacts with short but not long form alternative splice variants of AMPA receptor subunits. Neuropharmacology 38: 635-644, 1999.
[0022208]12796.Staudinger, J.; Zhou, J.; Burgess, R.; Elledge, S. J.; Olson, E. N.: PICK1: a perinuclear binding protein and substrate for protein kinase C isolated by the yeast two-hybrid system. J. Cell Biol. 128: 263-271, 1995.
[0022209]12797.Takeya, R.; Takeshige, K.; Sumimoto, H.: Interaction of the PDZ domain of human PICK1 with class I ADP-ribosylation factors. Biochem. Biophys. Res. Commun. 267: 149-155, 2000.
[0022210]12798.Xia, J.; Zhang, X.; Staudinger, J.; Huganir, R. L.: Clustering of AMPA receptors by the synaptic PDZ domain-containing protein PICK1. Neuron 22: 179-187, 1999.
[0022211]12799.Chadwick, L. H.; McCandless, S. E.; Silverman, G. L.; Schwartz, S.; Westaway, D.; Nadeau, J. H.: Betaine-homocysteine methyltransferase-2: cDNA cloning, gene sequence, physical mapping, and expression of the human and mouse genes. Genomics 70: 66-73, 2000.
[0022212]12800.Blencowe, B. J.; Bauren, G.; Eldridge, A. G.; Issner, R.; Nickerson, J. A.; Rosonina, E.; Sharp, P. A.: The SRm160/300 splicing coactivator subunits. RNA 6: 111-120, 2000.
[0022213]12801.Sawada, Y.; Miura, Y.; Umeki, K.; Tamaoki, T.; Fujinaga, K.; Ohtaki, S.: Cloning and characterization of a novel RNA-binding protein SRL300 with RS domains. Biochim. Biophys. Acta 1492: 191-195, 2000.
[0022214]12802.Hirose, K.; Morita, M.; Ema, M.; Mimura, J.; Hamada, H.; Fujii, H.; Saijo, Y.; Gotoh, O.; Sogawa, K.; Fujii-Kuriyama, Y.: cDNA cloning and tissue-specific expression of a novel basic helixloop-helix/PAS factor (Arnt2) with close sequence similarity to the aryl hydrocarbon receptor nuclear translocator (Arnt). Molec. Cell. Biol. 16: 1706-1713, 1996.
[0022215]12803.Keith, B.; Adelman, D. M.; Simon, M. C.: Targeted mutation of the murine arylhydrocarbon receptor nuclear translocator 2 (Arnt2) gene reveals partial redundancy with Arnt. Proc. Nat. Acad. Sci. 98: 6692-6697, 2001.
[0022216]12804.Michaud, J. L.; DeRossi, C.; May, N. R.; Holdener, B. C.; Fan, C.-M.: ARNT2 acts as the dimerization partner of SIM1 for the development of the hypothalamus. Mech. Dev. 90: 253-261, 2000.
[0022217]12805.Wende, H.; Volz, A.; Ziegler, A.: Extensive gene duplications and a large inversion characterize the human leukocyte receptor cluster. Immunogenetics 51: 703-713, 2000.
[0022218]12806.Fukunaga-Johnson, N.; Lee, S. W.; Liebert, M.; Grossman, H. B. : Molecular analysis of a gene, BB1, overexpressed in bladder and breast carcinoma. Anticancer Res. 16: 1085-1090, 1996.
[0022219]12807.Saito, H.; Papaconstantinou, J.; Sato, H.; Goldstein, S.: Regulation of a novel gene encoding a lysyl oxidase-related protein in cellular adhesion and senescence. J. Biol. Chem. 272: 8157-8160, 1997.
[0022220]12808.Hsu, S. Y.; Liang, S.-G.; Hsueh, A. J. W.: Characterization of two LGR genes homologous to gonadotropin and thyrotropin receptors with extracellular leucine-rich repeats and a G protein-coupled, seven-transmembrane region. Molec. Endocr. 12: 1830-1845, 1998.
[0022221]12809.Loh, E. D.; Broussard, S. R.; Kolakowski, L. F.: Molecular characterization of a novel glycoprotein hormone G-protein-coupled receptor. Biochem. Biophys. Res. Commun. 282: 757-764, 2001.
[0022222]12810.Loh, E. D.; Broussard, S. R.; Liu, Q.; Copeland, N. G.; Gilbert, D. J.; Jenkins, N. A.; Kolakowski, L. F., Jr. Chromosomal localization of GPR48, a novel glycoprotein hormone receptor like GPCR, in human and mouse with radiation hybrid and interspecific backcross mapping. Cytogenet. Cell Genet. 89: 2-5, 2000.
[0022223]12811.Giffon, T.; Lepourcelet, M.; Pichon, L.; Jezequel, P.; Bouric, P.; Carn, G.; Pontarotti, P.; Le Gall, J.-Y.; David, V.: Cloning of a human homologue of the mouse Tctex-5 gene within the MHC class I region. Immunogenetics 44: 331-339, 1996.
[0022224]12812.Lepourcelet, M.; Andrieux, N.; Giffon, T.; Pichon, L.; Hampe, A.; Galibert, F.; Mosser, J.: Systematic sequencing of the human HLA-A/HLA-F region: establishment of a cosmid contig and identification of a new gene cluster within 37 kb of sequence. Genomics 37: 316-326, 1996.
[0022225]12813.Zhang, J.; Zhang, L.; Zhao, S.; Lee, E. Y. C.: Identification and characterization of the human HCG V gene product as a novel inhibitor of protein phosphatase-1. Biochemistry 37: 16728-16734, 1998.
[0022226]12814.Hayakawa, A.; Matsuda, Y.; Daibata, M.; Nakamura, H.; Sano, K. : Genomic organization, tissue expression, and cellular localization of AF3p21, a fusion partner of MLL in therapyrelated leukemia. Genes Chromosomes Cancer 30: 364-374, 2001.
[0022227]12815.Sano, K.; Hayakawa, A.; Piao, J.-H.; Kosaka, Y.; Nakamura, H.: Novel SH3 protein encoded by the AF3p21 gene is fused to the mixed lineage leukemia protein in a therapy-related leukemia with t(3;11)(p21;q23). Blood 95: 1066-1068, 2000.
[0022228]12816.Coulie, P. G.; Brichard, V.; Van Pel, A.; Wolfel, T.; Schneider, J.; Traversari, C.; Mattei, S.; De Plaen, E.; Lurquin, C.; Szikora, J.-P.; Renauld, J.-C.; Boon, T.: A new gene coding for a differentiation antigen recognized by autologous cytolytic T lymphocytes on HLA-A2 melanomas. J. Exp. Med. 180: 35-42, 1994.
[0022229]12817.Kawakami, Y.; Eliyahu, S.; Delgado, C. H.; Robbins, P. F.; Rivoltini, L.; Topalian, S. L.; Miki, T.; Rosenberg, S. A.: Cloning of the gene coding for a shared human melanoma antigen recognized by autologous T cells infiltrating into tumor. Proc. Nat. Acad. Sci. 91: 3515-3519, 1994.
[0022230]12818.Alagramam, K. N.; Murcia, C. L.; Kwon, H. Y.; Pawlowski, K. S.; Wright, C. G.; Woychik, R. P.: The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene. Nature Genet. 27: 99-102, 2001.
[0022231]12819.Alagramam, K. N.; Yuan, H.; Kuehn, M. H.; Murcia, C. L.; Wayne, S.; Srisailpathy, C. R. S.; Lowry, R. B.; Knaus, R.; Van Laer, L.; Bernier, F. P.; Schwartz, S.; Lee, C.; Morton, C. C.; Mullins, R. F.; Ramesh, A.; Van Camp, G.; Hagemen, G. S.; Woychik, R. P.; Smith, R. J. H.: Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. Hum. Molec. Genet. 10: 1709-1718, 2001.
[0022232]12820.Astuto, L. M.; Bork, J. M.; Weston, M. D.; Askew, J. W.; Fields, R. R.; Orten, D. J.; Ohliger, S. J.; Riazuddin, S.; Morell, R. J.; Khan, S.; Riazuddin, S.; Kremer, H.; and 15 others: CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. Am. J. Hum. Genet. 71: 262-275, 2002.
[0022233]12821.Di Palma, F.; Holme, R. H.; Bryda, E. C.; Belyantseva, I. A.; Pellegrino, R.; Kachar, B.; Steel, K. P.; Noben-Trauth, K.: Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D. Nature Genet. 27: 103-107, 2001.
[0022234]12822.von Brederlow, B.; Bolz, H.; Janecke, A.; La O Cabrera, A.; Rudolph, G.; Lorenz, B.; Schwinger, E.; Gal, A.: Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D. Hum. Mutat. 19: 268-273, 2002.
[0022235]12823.Cao, H.; Hegele, R. A.: Identification of single-nucleotide polymorphisms in the human LPIN1 gene. J. Hum. Genet. 47: 370-372, 2002.
[0022236]12824.Peterfy, M.; Phan, J.; Xu, P.; Reue, K.: Lipodystrophy in the fld mouse results from mutation of a new gene encoding a nuclear protein, lipin. Nature Genet. 27: 121-124, 2001.
[0022237]12825.Reue, K.; Xu, P.; Wang, X.-P.; Slavin, B. G.: Adipose tissue deficiency, glucose intolerance, and increased atherosclerosis result from mutation in the mouse fatty liver dystrophy (fld) gene. J. Lipid Res. 41: 1067-1076, 2000.
[0022238]12826.Shakhov, A. N.; Rubtsov, A. V.; Lyakhov, I. G.; Tumanov, A. V.; Nedospasov, S. A.: SPLASH (PLA(2)IID), a novel member of phospholipase A2 family, is associated with lymphotoxindeficiency. Genes Immun. 1: 191-199, 2000.
[0022239]12827.Domanski, T. L.; Finta, C.; Halpert, J. R.; Zaphiropoulos, P. G. : cDNA cloning and initial characterization of CYP3A43, a novel human cytochrome P450. Molec. Pharm. 59: 386-392, 2001.
[0022240]12828.Gellner, K.; Eiselt, R.; Hustert, E.; Arnold, H.; Koch, I.; Haberl, M.; Deglmann, C. J.; Burk, O.; Buntefuss, D.; Escher, S.; Bishop, C.; Koebe, H.-G.; Brinkmann, U.; Klenk, H.-P.; Kleine, K.; Meyer, U. A.; Wojnowski, L.: Genomic organization of the human CYP3A locus: identification of a new, inducible CYP3A gene. Pharmacogenetics 11: 111-121, 2001.
[0022241]12829.Westlind, A.; Malmebo, S.; Johansson, I.; Otter, C.; Andersson, T. B.; Ingelman-Sundberg, M.; Oscarson, M.: Cloning and tissue distribution of a novel human cytochrome P450 of the CYP3A subfamily, CYP3A43. Biochem. Biophys. Res. Commun. 281: 1349-1355, 2001.
[0022242]12830.Furusawa, M.; Ohnishi, T.; Taira, T.; Iguchi-Ariga, S. M. M.; Ariga, H.: AMY-1, a c-Myc-binding protein, is localized in the mitochondria of sperm by association with S-AKAP84, an anchor protein of cAMP-dependent protein kinase. J. Biol. Chem. 276: 36647-36651, 2001.
[0022243]12831.Taira, T.; Maeda, J.; Onishi, T.; Kitaura, H.; Yoshida, S.; Kato, H.; Ikeda, M.; Tamai, K.; Iguchi-Ariga, S. M. M.; Ariga, H.: AMY-1, a novel C-MYC binding protein that stimulates transcription activity of C-MYC. Genes Cells 3: 549-565, 1998.
[0022244]12832.Bement, W. M.; Hasson, T.; Wirth, J. A.; Cheney, R. E.; Mooseker, M. S.: Identification and overlapping expression of multiple unconventional myosin genes in vertebrate cell types. Proc. Nat. Acad. Sci. 91: 6549-6553, 1994. Note: Erratum: Proc. Nat. Acad. Sci. 91: 11767 only, 1994.
[0022245]12833.Holt, J. R.; Gillespie, S. K. H.; Provance, D. W., Jr.; Shah, K.; Shokat, K. M.; Corey, D. P.; Mercer, J. A.; Gillespie, P. G.: A chemical-genetic strategy implicates myosin-1c in adaptation by hair cells. Cell 108: 371-381, 2002.
[0022246]12834.Kao, H. Y.; Downes, M.; Ordentlich, P.; Evans, R. M.: Isolation of a novel histone deacetylase reveals that class I and class II deacetylases promote SMRT-mediated repression. Genes Dev. 14: 55-66, 2000.
[0022247]12835.Orimo, A.; Tominaga, N.; Yoshimura, K.; Yamauchi, Y.; Nomura, M.; Sato, M.; Nogi, Y.; Suzuki, M.; Suzuki, H.; Ikeda, K.; Inoue, S.; Muramatsu, M.: Molecular cloning of ring finger protein 21 (RNF21)/interferon-responsive finger protein (ifp1), which possesses two RING-B box-coiled coil domains in tandem. Genomics 69: 143-149, 2000.
[0022248]12836.Gallagher, G.; Dickensheets, H.; Eskdale, J.; Izotova, L. S.; Mirochnitchenko, O. V.; Peat, J. D.; Vazquez, N.; Pestka, S.; Donnelly, R. P.; Kotenko, S. V.: Cloning, expression and initial characterisation of interleukin-19 (IL-19), a novel homologue of human interleukin-10 (IL-10). Genes Immunity 1: 442-450, 2000.
[0022249]12837.Savino, M.; d'Apolito, M.; Centra, M.; van Beerendonk, H. M.; Cleton-Jansen, A.-M.; Whitmore, S. A.; Crawford, J.; Callen, D. F.; Zelante, L.; Savoia, A.: Characterization of copine VII, a new member of the copine family, and its exclusion as a candidate in sporadic breast cancers with loss of heterozygosity at 16q24.3. Genomics 61: 219-226, 1999.
[0022250]12838.Runnels, L. W.; Yue, L.; Clapham, D. E.: The TRPM7 channel is inactivated by PIP(2) hydrolysis. Nature Cell Biol. 4: 329-336, 2002.
[0022251]12839.Scott, A. F.: Personal Communication. Baltimore, Md. 3/8/2001.
[0022252]12840.Cosman, D.; Mullberg, J.; Sutherland, C. L.; Chin, W.; Armitage, R.; Fanslow, W.; Kubin, M.; Chalupny, N. J.: ULBPs, novel MHC class I-related molecules, bind to CMV glycoprotein UL16 and stimulate NK cytotoxicity through the NKG2D receptor. Immunity 14: 123-133, 2001.
[0022253]12841.Le, L. Q.; Kabarowski, J. H. S.; Weng, Z.; Satterthwaite, A. B.; Harvill, E. T.; Jensen, E. R.; Miller, J. F.; Witte, O. N.: Mice lacking the orphan G protein-coupled receptor G2A develop a lateonset autoimmune syndrome. Immunity 14: 561-571, 2001.
[0022254]12842.Scott, A. F.: Personal Communication. Baltimore, Md. 7/20/2001.
[0022255]12843.Koch, P.; Bohlmann, I.; Schafer, M.; Hansen-Hagge, T. E.; Kiyoi, H.; Wilda, M.; Hameister, H.; Bartram, C. R.; Janssen, J. W. G.: Identification of a novel putative Ran-binding protein and its close homologue. Biochem. Biophys. Res. Commun. 278: 241-249, 2000.
[0022256]12844.Kirikoshi, H.; Koike, J.; Sagara, N.; Saitoh, T.; Tokuhara, M.; Tanaka, K.; Sekihara, H.; Hirai, M.; Katoh, M.: Molecular cloning and genomic structure of human Frizzled-3 at chromosome 8p21. Biochem. Biophys. Res. Commun. 271: 8-14, 2000.
[0022257]12845.Sala, C. F.; Formenti, E.; Terstappen, G. C.; Caricasole, A.: Identification, gene structure, and expression of human frizzled-3 (FZD3). Biochem. Biophys. Res. Commun. 273: 27-34, 2000.
[0022258]12846.Eggenschwiler, J. T.; Espinoza, E.; Anderson, K. V.: Rab23 is an essential negative regulator of the mouse Sonic hedgehog signalling pathway. Nature 412: 194-198, 2001.
[0022259]12847.Zhang, Q.-H.; Ye, M.; Wu, X.-Y.; Ren, S.-X.; Zhao, M.; Zhao, C.-J.; Fu, G.; Shen, Y.; Fan, H.-Y.; Lu, G.; Zhong, M.; Xu, X.-R.; and 9 others: Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. Genome Res. 10: 1546-1560, 2000.
[0022260]12848.Saitoh, T.; Hirai, M.; Katoh, M.: Molecular cloning and characterization of human Frizzled-8 gene on chromosome 10p11.2. Int. Oncol. 18: 991-996, 2001.
[0022261]12849.Koike, J.; Takagi, A.; Miwa, T.; Hirai, M.; Terada, M.; Katoh, M.: Molecular cloning of Frizzled-10, a novel member of the Frizzled gene family. Biochem. Biophys. Res. Commun. 262: 39-43, 1999.
[0022262]12850.Wittenberger, T.; Schaller, H. C.; Hellebrand, S.: An expressed sequence tag (EST) data mining strategy succeeding in the discovery of new G-protein coupled receptors. J. Molec. Biol. 307: 799-813, 2001.
[0022263]12851.Communi, D.; Gonzalez, N. S.; Detheux, M.; Brezillon, S.; Lannoy, V.; Parmentier, M.; Boeynaems, J.-M.: Identification of a novel human ADP receptor coupled to G(i). J. Biol. Chem. 276: 41479-41485, 2001.
[0022264]12852.Chen, H.; Ross, C. A.; Wang, N.; Huo, Y.; MacKinnon, D. F.; Potash, J. B.; Simpson, S. G.; McMahon, F. J.; DePaulo, J. R., Jr.; McInnis, M. G.: NEDD4L on human chromosome 18q21 has multiple forms of transcripts and is a homologue of the mouse Nedd4-2 gene. Europ. J. Hum. Genet. 9: 922-930, 2001.
[0022265]12853.Erdeniz, N.; Rothstein, R.: Rsp5, a ubiquitin-protein ligase, is involved in degradation of the single-stranded-DNA binding protein Rfa1 in Saccharomyces cerevisiae. Molec. Cell. Biol. 20: 224-232, 2000.
[0022266]12854.Riggins, G. J.; Thiagalingam, S.; Rozenblum, E.; Weinstein, C. L.; Kern, S. E.; Hamilton, S. R.; Willson, J. K. V.; Markowitz, S. D.; Kinzler, K. W.; Vogelstein, B.: Mad-related genes in the human. Nature Genet. 13: 347-349, 1996.
[0022267]12855.Hanai, R.; Caron, P. R.; Wang, J. C.: Human TOP3: a single-copy gene encoding DNA topoisomerase III. Proc. Nat. Acad. Sci. 93: 3653-3657, 1996.
[0022268]12856.Hu, P.; Beresten, S. F.; van Brabant, A. J.; Ye, T.-Z.; Pandolfi, P.-P.; Johnson, F. B.; Guarente, L.; Ellis, N. A.: Evidence for BLM and topoisomerase III-alpha interaction in genomic stability. Hum. Molec. Genet. 10: 1287-1298, 2001.
[0022269]12857.Li, W.; Wang, J. C.: Mammalian DNA topoisomerase III-alpha is essential in early embryogenesis. Proc. Nat. Acad. Sci. 95: 1010-1013, 1998.
[0022270]12858.Harteneck, C.; Wedel, B.; Koesling, D.; Malkewitz, J.; Bohme, E.; Schultz, G.: Molecular cloning and expression of a new alpha-subunit of soluble guanylyl cyclase. Interchangeability of the alpha-subunits of the enzyme. FEBS Lett. 292: 217-222, 1991.
[0022271]12859.Yu, F.; Warburton, D.; Wellington, S.; Danziger, R. S.: Assignment of GUCIA2, the gene coding for the alpha-2 subunit of soluble guanylyl cyclase, to position 11q21-q22 on human chromosome 11. Genomics 33: 334-336, 1996.
[0022272]12860.Abe, K.; Yamamura, K.; Suzuki, M.: Molecular and embryological characterization of a new transgene-induced null allele of mouse Brachyury locus. Mammalian Genome 11: 238-240, 2000.
[0022273]12861.Rozzo, C.; Fossarello, M.; Galleri, G.; Sole, G.; Serru, A.; Orzalesi, N.; Serra, A.; Pirastu, M.: A common beta-ig-h3 gene mutation (delta-f540) in a large cohort of Sardinian Reis Bucklers' corneal dystrophy patients. (Abstract) Hum. Mutat. 12: 215-216, 1998.
[0022274]12862.Skonier, J.; Bennett, K.; Rothwell, V.; Kosowski, S.; Plowman, G.; Wallace, P.; Edelhoff, S.; Disteche, C.; Neubauer, M.; Marquardt, H.; Rootgers, J.; Purchio, A. F.: Beta-ig-h3: a transforming growth factor-beta-responsive gene encoding a secreted protein that inhibits cell attachment in vitro and suppresses the growth of CHO cells in nude mice. DNA Cell Biol. 13: 571-584, 1994.
[0022275]12863.Skonier, J.; Neubauer, M.; Madisen, L.; Bennett, K.; Plowman, G. D.; Purchio, A. F.: cDNA cloning and sequence analysis of beta ig-h3, a novel gene induced in a human adenocarcinoma cell line after treatment with transforming growth factor-beta. DNA Cell Biol. 11: 511-522, 1992.
[0022276]12864.Stock, E. L.; Feder, R. S.; O'Grady, R. B.; Sugar, J.; Roth, S. I.: Lattice corneal dystrophy type IIIA: clinical and histopathologic correlations. Arch. Ophthal. 109: 354-358, 1991.
[0022277]12865.Arsenijevic, D.; Onuma, H.; Pecqueur, C.; Raimbault, S.; Manning, B. S.; Miroux, B.; Couplan, E.; Alves-Guerra, M.-C.; Goubern, M.; Surwit, R.; Bouillard, F.; Richard, D.; Collins, S.; Ricquier, D. : Disruption of the uncoupling protein-2 gene in mice reveals a role in immunity and reactive oxygen species production. Nature Genet. 26: 435-439, 2000.
[0022278]12866.Bouchard, C.; Perusse, L.; Chagnon, Y. C.; Warden, C.; Ricquier, D.: Linkage between markers in the vicinity of the uncoupling protein 2 gene and resting metabolic rate in humans. Hum. Molec. Genet. 6: 1887-1889, 1997.
[0022279]12867.Brauner, P.; Nibbelink, M.; Flachs, P.; Vitkova, I.; Kopecky, P.; Mertelikova, I.; Janderova, L.; Penicaud, L.; Casteilla, L.; Plavka, R.; Kopecky, J.: Fast decline of hematopoiesis and uncoupling protein 2 content in human liver after birth: location of the protein in Kupffer cells. Pediat. Res. 49: 440-447, 2001.
[0022280]12868.Esterbauer, H.; Schneitler, C.; Oberkofler, H.; Ebenbichler, C.; Paulweber, B.; Sandhofer, F.; Ladurner, G.; Hell, E.; Strosberg, A. D.; Patsch, J. R.; Krempler, F.; Patsch, W.: A common polymorphism in the promoter of UCP2 is associated with decreased risk of obesity in middleaged humans. Nature Genet. 28: 178-183, 2001.
[0022281]12869.Fleury, C.; Neverova, M.; Collins, S.; Raimbault, S.; Champigny, O.; Levi-Meyrueis, C.; Bouillaud, F.; Seldin, M. F.; Surwit, R. S.; Ricquier, D.; Warden, C. H.: Uncoupling protein-2: a novel gene linked to obesity and hyperinsulinemia. Nature Genet. 15: 269-272, 1997.
[0022282]12870.Flier, J. S.; Lowell, B. B.: Obesity research springs a proton leak. Nature Genet. 15: 223-224, 1997.
[0022283]12871.Millet, L.; Vidal, H.; Andreelli, F.; Larrouy, D.; Riou, J.-P.; Ricquier, D.; Laville, M.; Langin, D.: Increased uncoupling protein-2 and -3 mRNA expression during fasting in obese and lean humans. J. Clin. Invest. 100: 2665-2670, 1997.
[0022284]12872.Edwards, Y. H.; Putt, W.; Lekoape, K. M.; Stott, D.; Fox, M.; Hopkinson, D. A.; Sowden, J.: The human homolog T of the mouse T (Brachyury) gene: gene structure, cDNA sequence, and assignment to chromosome 6q27. Genome Res. 6: 226-233, 1996.
[0022285]12873.Morrison, K.; Papapetrou, C.; Attwood, J.; Hol, F.; Lynch, S. A.; Sampath, A.; Hamel, B.; Burn, J.; Sowden, J.; Stott, D.; Mariman, E.; Edwards, Y. H.: Genetic mapping of the human homologue (T) of mouse T(Brachyury) and a search for allele association between human T and spina bifida. Hum. Molec. Genet. 5: 669-674, 1996.
[0022286]12874.Papapetrou, C.; Drummond, F.; Reardon, W.; Winter, R.; Spitz, L.; Edwards, Y. H.: A genetic study of the human T gene and its exclusion as a major candidate gene for sacral agenesis with anorectal atresia. J. Med. Genet. 36: 208-213, 1999.
[0022287]12875.Shields, D. C.; Ramsbottom, D.; Donoghue, C.; Pinjon, E.; Kirke, P. N.; Molloy, A. M.; Edwards, Y. H.; Mills, J. L.; Mynett-Johnson, L.; Weir, D. G.; Scott, J. M.; Whitehead, A. S.: Association between historically high frequencies of neural tube defects and the human T homologue of mouse T (Brachyury). Am. J. Med. Genet. 92: 206-211, 2000.
[0022288]12876.Speer, M. C.; Melvin, E. C.; Viles, K. D.; Bauer, K. A.; Rampersaud, E.; Drake, C.; George, T. M.; Enterline, D. S.; Mackey, J. F.; Worley, G.; Gilbert, J. R.; Nye, J. S.; NTD Collaborative Group: T locus shows no evidence for linkage disequilibrium or mutation in American Caucasian neural tube defect families. Am. J. Med. Genet. 110: 215-218, 2002.
[0022289]12877.Trembath, D.; Sherbondy, A. L.; Vandyke, D. C.; Shaw, G. M.; Todoroff, K.; Lammer, E. J.; Finnell, R. H.; Marker, S.; Lerner, G.; Murray, J. C.: Analysis of select folate pathway genes, PAX3, and human T in a midwestern neural tube defect population. Teratology 59: 331-341, 1999.
[0022290]12878.Gunduz, M.; Ouchida, M.; Fukushima, K.; Hanafusa, H.; Etani, T.; Nishioka, S.; Nishizaki, K.; Shimizu, K.: Genomic structure of the human ING1 gene and tumor-specific mutations detected in head and neck squamous cell carcinomas. Cancer Res. 60: 3143-3146, 2000.
[0022291]12879.Kuefer, M. U.; Look, A. T.; Williams, D. C.; Valentine, V.; Naeve, C. W.; Behm, F. G.; Mullersman, J. E.; Yoneda-Kato, N.; Montgomery, K.; Kucherlapati, R.; Morris, S. W.: cDNA cloning, tissue distribution, and chromosomal localization of myelodysplasia/myeloid leukemia factor 2 (MLF2). Genomics 35: 392-396, 1996.
[0022292]12880.Hasegawa, H.; Kiyokawa, E.; Tanaka, S.; Nagashima, K.; Gotoh, N.; Shibuya, M.; Kurata, T.; Matsuda, M.: DOCK180, a major CRK-binding protein, alters cell morphology upon translocation to the membrane. Molec. Cell Biol. 16: 1770-176, 1996.
[0022293]12881.Savill, J.: Phagocytic docking without shocking. Nature 442-443, 1998.
[0022294]12882.Takai, S.; Hasegawa, H.; Kiyokawa, E.; Yamada, K.; Kurata, T.; Matsuda, M.: Chromosomal mapping of the gene encoding DOCK180, a major Crk-binding protein, to 10q26.13-q26.3 by fluorescence in situ hybridization. Genomics 35: 403-404, 1996.
[0022295]12883.Wu, Y.-C.; Horvitz, H. R.: C. elegans phagocytosis and cell-migration protein CED-5 is similar to human DOCK180. Nature 392: 501-504, 1998.
[0022296]12884.Jamin, S. P.; Arango, N. A.; Mishina, Y.; Hanks, M. C.; Behringer, R. R.: Requirement of Bmpr1a for Mullerian duct regression during male sexual development. Nature Genet. 7Oct, 2002. Note: Advance Electronic Publication.
[0022297]12885.Zhou, X. P.; Woodford-Richens, K.; Lehtonen, R.; Kurose, K.; Aldred, M.; Hampel, H.; Launonen, V.; Virta, S.; Pilarski, R.; Salovaara, R.; Bodmer, W. F.; Conrad, B. A.; and 17 others: Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. Am. J. Hum. Genet. 69: 704-711, 2001.
[0022298]12886.Alexander, J. M.; Bikkal, H. A.; Zervas, N. T.; Laws, E. R., Jr.; Klibanski, A.: Tumorspecific expression and alternate splicing of messenger ribonucleic acid encoding activin/transforming growth factor-beta receptors in human pituitary adenomas. J. Clin. Endocr. Metab. 81: 783-790, 1996.
[0022299]12887.Su, G. H.; Bansal, R.; Murphy, K. M.; Montgomery, E.; Yeo, C. J.; Hruban, R. H.; Kern, S. E.: ACVR1B (ALK4, activin receptor type 1B) gene mutations in pancreatic carcinoma. Proc. Nat. Acad. Sci. 98: 3254-3257, 2001.
[0022300]12888.Xu, J.; Matsuzaki, K.; McKeehan, K.; Wang, F.; Kan, M.; McKeehan, W. L.: Genomic structure and cloned cDNAs predict that four variants in the kinase domain of serine/threonine kinase receptors arise by alternative splicing and poly(A) addition. Proc. Nat. Acad. Sci. 91: 7957-7961, 1994.
[0022301]12889.Zhou, Y.; Sun, H.; Danila, D. C.; Johnson, S. R.; Sigai, D. P.; Zhang, X.; Klibanski, A.: Truncated activin type I receptor Alk4 isoforms are dominant negative receptors inhibiting activin signaling. Molec. Endocr. 14: 2066-2075, 2000.
[0022302]12890.Mann, S. S.; Pettenati, M. J.; von Kap-herr, C.; Hart, T. C.: Reassignment of peptidyl prolyl isomerase-like 1 gene (PPIL1) to human chromosome region 6p21.1 by radiation hybrid mapping and fluorescence in situ hybridization. Cytogenet. Cell Genet. 83: 228-229, 1998.
[0022303]12891.Ozaki, K.; Fujiwara, T.; Kawai, A.; Shimizu, F.; Takami, S.; Okuno, S.; Takeda, S.; Shimada, Y.; Nagata, M.; Watanabe, T.; Takaichi, A.; Takahashi, E.; Nakamura, Y.; Shin, S.: Cloning, expression and chromosomal mapping of a novel cyclophilin-related gene (PPIL1) from human fetal brain. Cytogenet. Cell Genet. 72: 242-245, 1996.
[0022304]12892.Graef, I. A.; Chen, F.; Chen, L.; Kuo, A.; Crabtree, G. R.: Signals transduced by Ca(2+)/calcineurin and NFATc3/c4 pattern the developing vasculature. Cell 105: 863-875, 2001.
[0022305]12893.Wang, M. G.; Yi, H.; Guerini, D.; Klee, C. B.; McBride, O. W.: Calcineurin A alpha (PPP3CA), calcineurin A beta (PPP3CB) and calcineurin B (PPP3R1) are located on human chromosomes 4, 10q21-q22 and 2p16-p15, respectively. Cytogenet. Cell Genet. 72: 236-241, 1996.
[0022306]12894.Zeng, H.; Chattarji, S.; Barbarosie, M.; Rondi-Reig, L.; Philpot, B. D.; Miyakawa, T.; Bear, M. F.; Tonegawa, S.: Forebrain-specific calcineurin knockout selectively impairs bidirectional synaptic plasticity and working/episodic-like memory. Cell 107: 617-629, 2001.
[0022307]12895.Watanabe, T. K.; Shimizu, F.; Nagata, M.; Kawai, A.; Fujiwara, T.; Nakamura, Y.; Takahashi, E.; Hirai, Y.: Cloning, expression, and mapping of CKAP1, which encodes a putative cytoskeleton-associated protein containing a CAP-GLY domain. Cytogenet. Cell Genet. 72: 208-211, 1996.
[0022308]12896.Kolodrubetz, D.; Burgum, A.: Sequence and genetic analysis of NHP2: a moderately abundant high mobility group-like nuclear protein with an essential function in Saccharomyces cerevisiae. Yeast 7: 79-90, 1991.
[0022309]12897.Saito, H.; Fujiwara, T.; Shin, S.; Okui, K.; Nakamura, Y.: Cloning and mapping of a human novel cDNA (NHP2L1) that encodes a protein highly homologous to yeast nuclear protein NHP2. Cytogenet. Cell Genet. 72: 191-193, 1996.
[0022310]12898.Mooseker, M. S.; Cheney, R. E.: Unconventional myosins. Annu. Rev. Cell Dev. Biol. 11: 633-675, 1995.
[0022311]12899.Bement, W. M.; Wirth, J. A.; Mooseker, M. S.: Cloning and mRNA expression of human unconventional myosin-IC: a homologue of amoeboid myosins-I with a single IQ motif and an SH3 domain. J. Molec. Biol. 243: 356-363, 1994.
[0022312]12900.Bement, W. M.; Hasson, T.; Wirth, J. A.; Cheney, R. E.; Mooseker, M. S.: Identification and overlapping expression of multiple unconventional myosin genes in vertebrate cell types. Proc. Nat. Acad. Sci. 91: 6549-6553, 1994. Erratum: Proc. Nat. Acad. Sci. 91: 11767, 1994.
[0022313]12901.Crozet, F.; Amraoui, A. E.; Blanchard, S.; Lenoir, M.; Ripoll, C.; Vago, P.; Hamel, C.; Fizames, C.; Levi-Acobas, F.; Depetris, D.; Mattei, M.-G.; Weil, D.; Pujol, R.; Petit, C.: Cloning of the genes encoding two murine and human cochlear unconventional type I myosins. Genomics 40: 332-341, 1997.
[0022314]12902.Dong, L. Q.; Du, H.; Porter, S. G.; Kolakowski, L. F., Jr.; Lee, A. V.; Mandarino, J.; Fan, J.; Yee, D.; Liu, F.: Cloning, chromosome localization, expression, and characterization of an Src homology 2 and pleckstrin homology domain-containing insulin receptor binding protein hGrb10-gamma. J. Biol. Chem. 272: 29104-29112, 1997.
[0022315]12903.Margolis, B.; Silvennoinen, O.; Comoglio, F.; Roonprapunt, C.; Skolnik, E.; Ullrich, A.; Schlessinger, J.: High-efficiency expression/cloning of epidermal growth factor-receptor-binding proteins with Src homology 2 domains. Proc. Nat. Acad. Sci. 89: 8894-8898, 1992.
[0022316]12904.Skolnik, E. Y.; Margolis, B.; Mohammadi, M.; Lowenstein, E.; Fischer, R.; Drepps, A.; Ullrich, A.; Schlessinger, J.: Cloning of PI3 kinase- associated p85 utilizing a novel method for expression/cloning of target proteins for receptor tyrosine kinases. Cell 65: 83-90, 1991.
[0022317]12905.Tanaka, S.; Mori, M.; Akiyoshi, T.; Tanaka, Y.; Mafune, K.; Wands, J. R.; Sugimachi, K.: A novel variant of human Grb7 is associated with invasive esophageal carcinoma. J. Clin. Invest. 102: 821-827, 1998.
[0022318]12906.Blagitko, N.; Mergenthaler, S.; Schulz, U.; Wollmann, H. A.; Craigen, W.; Eggermann, T.; Ropers, H.-H.; Kalscheuer, V. M.: Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion. Hum. Molec. Genet. 9: 1587-1595, 2000.
[0022319]12907.Frantz, J. D.; Giorgetti-Peraldi, S.; Ottinger, E. A.; Shoelson, S. E.: Human GRB-IRbeta/ GRB10: splice variants of an insulin and growth factor receptor-binding protein with PH and SH2 domains. J. Biol. Chem. 272: 2659-2667, 1997.
[0022320]12908.Hannula, K.; Lipsanen-Nyman, M.; Kontiokari, T.; Kere, J.: A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region. Am. J. Hum. Genet. 68: 247-253, 2001.
[0022321]12909.Jerome, C. A.; Scherer, S. W.; Tsui, L.-C.; Gietz, R. D.; Triggs-Raine, B.: Assignment of growth factor receptor-bound protein 10 (GRB10) to human chromosome 7p11.2-p12. Genomics 40: 215-216, 1997.
[0022322]12910.Liu, F.; Roth, R. A.: Grb-IR: a SH2-domain-containing protein that binds to the insulin receptor and inhibits its function. Proc. Nat. Acad. Sci. 92: 10287-10291, 1995.
[0022323]12911.Ooi, J.; Yajnik, V.; Immanuel, D.; Gordon, M.; Moskow, J. J.; Buchberg, A. M.; Margolis, B.: The cloning of Grb10 reveals a new family of SH2 domain proteins. Oncogene 10: 1621-1630, 1995.
[0022324]12912.Daly, R. J.; Sanderson, G. M.; Janes, P. W.; Sutherland, R. L. : Cloning and characterization of GRB14, a novel member of the GRB7 gene family. J. Biol. Chem. 271: 12502-12510, 1996.
[0022325]12913.Hakala, B. E.; White, C.; Recklies, A. D.: Human cartilage gp-39, a major secretory product of articular chondrocytes and synovial cells, is a mammalian member of a chitinase protein family. J. Biol. Chem. 268: 25803-25810, 1993.
[0022326]12914.Rehli, M.; Krause, S. W.; Andreesen, R.: Molecular characterization of the gene for human cartilage gp-39 (CHI3L1), a member of the chitinase protein family and marker for late stages of macrophage differentiation. Genomics 43: 221-225, 1997.
[0022327]12915.Dry, K.; Kenwrick, S.; Rosenthal, A.; Platzer, M.: The complete sequence of the human locus for NgCAM-related cell adhesion molecule reveals a novel alternative exon in chick and man and conserved genomic organization for the L1 subfamily. Gene 273: 115-122, 2001.
[0022328]12916.Grumet, M.; Mauro, V.; Burgoon, M. P.; Edelman, G. M.; Cunningham, B. A.: Structure of a new nervous system glycoprotein, Nr-CAM, and its relationship to subgroups of neural cell adhesion molecules. J. Cell. Biol. 113: 1399-1412, 1991.
[0022329]12917.Kayyem, J. F.; Roman, J. M.; de la Rosa, E. J.; Schwarz, U.; Dreyer, W. J.: Bravo/Nr-CAM is closely related to the cell adhesion molecules L1 and Ng-CAM and has a similar heterodimer structure. J. Cell. Biol. 118: 1259-1270, 1992.
[0022330]12918.Lane, R. P.; Chen, X.-N.; Yamakawa, K.; Vielmetter, J.; Korenberg, J. R.; Dreyer, W. J.: Characterization of a highly conserved human homolog to the chicken neural cell surface protein Bravo/Nr-CAM that maps to chromosome band 7q31. Genomics 35: 456-465, 1996.
[0022331]12919.Wang, B.; Williams, H.; Du, J.-S.; Terrett, J.; Kenwrick, S.: Alternative splicing of human NrCAM in neural and nonneural tissues. Molec. Cell. Neurosci. 10: 287-295, 1998.
[0022332]12920.Cates, C. A.; Michael, R. L.; Stayrook, K. R.; Harvey, K. A.; Burke, Y. D.; Randall, S. K.; Crowell, P. L.; Crowell, D. N.: Prenylation of oncogenic human PTP(CAAX) protein tyrosine phosphatases. Cancer Lett. 110: 49-55, 1996.
[0022333]12921.Montagna, M.; Serova, O.; Sylla, B. S.; Feunteun, J.; Lenoir, G. M.: A 100-kb physical and transcriptional map around the EDH17B2 gene: identification of three novel genes and a pseudogene of a human homologue of the rat PRL-1 tyrosine phosphatase. Hum. Genet. 96: 532-538, 1995.
[0022334]12922.Zeng, Q.; Hong, W.; Tan, Y. H.: Mouse PRL-2 and PRL-3, two potentially prenylated protein tyrosine phosphatases homologous to PRL-1. Biochem. Biophys. Res. Commun. 244: 421-427, 1998.
[0022335]12923.Muneer, S.; Ramalingam, V.; Wyatt, R.; Schultz, R. A.; Minna, J. D.; Kamibayashi, C.: Genomic organization and mapping of the gene encoding the PP2A B56-gamma regulatory subunit. Genomics 79: 344-348, 2002.
[0022336]12924.Deveraux, Q.; Jensen, C.; Rechsteiner, M.: Molecular cloning and expression of a 26 S protease subunit enriched in dileucine repeats. J. Biol. Chem. 270: 23726-23729, 1995.
[0022337]12925.Deveraux, Q.; Ustrell, V.; Pickart, C.; Rechsteiner, M.: A 26 S protease subunit that binds ubiquitin conjugates. J. Biol. Chem. 269: 7059-7061, 1994.
[0022338]12926.Hu, R.-J.; Lee, M. P.; Johnson, L. A.; Feinberg, A. P.: A novel human homologue of yeast nucleosome assembly protein, 65 kb centromeric to the p57(KIP2) gene, is biallelically expressed in fetal and adult tissues. Hum. Molec. Genet. 5: 1743-1748, 1996.
[0022339]12927.Rodriguez, P.; Munroe, D.; Prawitt, D.; Chu, L. L.; Bric, E.; Kim, J.; Reid, L. H.; Davies, C.; Nakagama, H.; Loebbert, R.; Winterpacht, A.; Petruzzi, M.-J.; Higgins, M. J.; Nowak, N.; Evans, G.; Shows, T.; Weissman, B. E.; Zabel, B.; Housman, D. E.; Pelletier, J.: Functional characterization of human nucleosome assembly protein-2 (NAP1L4) suggests a role as a histone chaperone. Genomics 44: 253-265, 1997.
[0022340]12928.Stegmaier, K.; Pendse, S.; Barker, G. F.; Bray-Ward, P.; Ward, D. C.; Montgomery, K. T.; Krauter, K. S.; Reynolds, C.; Sklar, J.; Donnelly, M.; Bohlander, S. K.; Rowley, J. D.; Sallan, S. E.; Gilliland, D. G.; Golub, T. R.: Frequent loss of heterozygosity at the TEL gene locus in acute lymphoblastic leukemia of childhood. Blood 86: 38-44, 1995.
[0022341]12929.Arakawa, H.; Nagase, H.; Hayashi, N.; Fujiwara, T.; Ogawa, M.; Shin, S.; Nakamura, Y.: Molecular cloning and expression of a novel human gene that is highly homologous to human FK506-binding protein 12kDa (hFKBP-12) and characterization of two alternatively spliced transcripts. Biochem. Biophys. Res. Commun. 200: 836-843, 1994.
[0022342]12930.Xin, H.-B.; Senbonmatsu, T.; Cheng, D.-S.; Wang, Y.-X. Copello, J. A.; Ji, G.-J.; Collier, M. L.; Deng, K.-Y.; Jeyakumar, L. H.; Magnuson, M. A.; Inagami, T.; Kotlikoff, M. I.; Fleischer, S.: Oestrogen protects FKBP12.6 null mice from cardiac hypertrophy. Nature 416: 334-337, 2002.
[0022343]12931.Dong, J.-T.; Isaacs, W. B.; Barrett, J. C.; Isaacs, J. T.: Genomic organization of the human KAI1 metastasis-suppressor gene. Genomics 41: 25-32, 1997.
[0022344]12932.Dong, J.-T.; Lamb, P. W.; Rinker-Schaeffer, C. W.; Vukanovic, J.; Ichikawa, T.; Isaacs, J. T.; Barrett, J. C.: KAI1, a metastasis suppressor gene for prostate cancer on human chromosome 11p11.2. Science 268: 884-886, 1995.
[0022345]12933.Guo, X.-Z.; Friess, H.; Di Mola, F. F.; Heinicke, J.-M.; Abou-Shady, M.; Graber, H. U.; Baer, H. U.; Zimmermann, A.; Korc, M.; Buchler, M. W.: KAI1, a new metastasis suppressor gene, is reduced in metastatic hepatocellular carcinoma. Hepatology 28: 1481-1488, 1998.
[0022346]12934.Mashimo, T.; Watabe, M.; Hirota, S.; Hosobe, S.; Miura, K.; Tegtmeyer, P. J.; Rinker-Shaeffer, C. W.; Watabe, K.: The expression of the KAI1 gene, a tumor metastasis suppressor, is directly activated by p53. Proc. Nat. Acad. Sci. 95: 11307-11311, 1998.
[0022347]12935.Miyazaki, T.; Kato, H.; Shitara, Y.; Yoshikawa, M.; Tajima, K.; Masuda, N.; Shouji, H.; Tsukada, K.; Nakajima, T.; Kuwano, H.: Mutation and expression of the metastasis suppressor gene KAI1 in esophageal squamous cell carcinoma. Cancer 89: 955-962, 2000.
[0022348]12936.Brakebusch, C.; Jallal, B.; Fusco, O.; Iacobelli, S.; Ullrich, A.: Expression of the 90K immunostimulator gene is controlled by a promoter with unique features. J. Biol. Chem. 272: 3674-3682, 1997.
[0022349]12937.Calabrese, G.; Sures, I.; Pompetti, F.; Natoli, G.; Palka, G.; Iacobelli, S.: The gene (LGALS3BP) encoding the serum protein 90K, associated with cancer and infection by the human immunodeficiency virus, maps at 17q25. Cytogenet. Cell Genet. 69: 223-225, 1995.
[0022350]12938.Iacobelli, S.; Arno, E.; D'Orazio, A.; Coletti, G.: Detection of antigens recognized by a novel monoclonal antibody in tissue and serum from patients with breast cancer. Cancer Res. 46: 3005-3010, 1986.
[0022351]12939.Iacobelli, S.; Arno, E.; Sismondi, P.; Natoli, C.; Gentiloni, N.; Scambia, G.; Giai, M.; Cortese, P.; Panici, P. B.; Mancuso, S.: Measurement of a breast cancer associated antigen detected by monoclonal antibody (SP-2) in sera of cancer patients. Breast Cancer Res. Treat. 11: 19-30, 1988.
[0022352]12940.Iacobelli, S.; Bucci, I.; D'Egidio, M.; Giuliani, C.; Natoli, C.; Tinari, N.; Rubistein, M.; Schlessinger, J.: Purification and characterization of a 90 kDa protein released from human tumors and tumor cell lines. FEBS Lett. 319: 59-65, 1993.
[0022353]12941.Gupta, P.; Soyombo, A. A.; Atashband, A.; Wisniewski, K. E.; Shelton, J. M.; Richardson, J. A.; Hammer, R. E.; Hofmann, S. L.: Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice. Proc. Nat. Acad. Sci. 98: 13566-13571, 2001.
[0022354]12942.Mazoyer, S.; Gayther, S. A.; Nagai, M. A.; Smith, S. A.; Dunning, A.; van Rensburg, E. J.; Albertsen, H.; White, R.; Ponder, B. A. J. : A gene (DLG2) located at 17q12-q21 encodes a new homologue of the Drosophila tumor suppressor dlg-A. Genomics 28: 25-31, 1995.
[0022355]12943.Korschen, H. G.; Beyermann, M.; Muller, F.; Heck, M.; Vantler, M.; Koch, K.-W.; Kellner, R.; Wolfrum, U.; Bode, C.; Hofmann, K. P.; Kaupp, U. B.: Interaction of glutamic-acid-rich proteins with the cGMP signalling pathway in rod photoreceptors. Nature 400: 761-766, 1999.
[0022356]12944.Bianchi, L.: Glycogen storage disease I and hepatocellular tumours. Europ. J. Pediat. 152 (suppl. 1): S63-S70, 1993.
[0022357]12945.Amiel, J.; Espinosa-Parrilla, Y.; Steffann, J.; Gosset, P.; Pelet, A.; Prieur, M.; Boute, O.; Choiset, A.; Lacombe, D.; Philip, N.; Le Merrer, M.; Tanaka, H.; Till, M.; Touraine, R.; Toutain, A.; Vekemans, M.; Munnich, A.; Lyonnet, S.: Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures. Am. J. Hum. Genet. 69: 1370-1377, 2001.
[0022358]12946.Hack, A. A.; Cordier, L.; Shoturma, D. I.; Lam, M. Y.; Sweeney, H. L.; McNally, E. M.: Muscle degeneration without mechanical injury in sarcoglycan deficiency. Proc. Nat. Acad. Sci. 96: 10723-10728, 1999.
[0022359]12947.Mueller, O. T.; Henry, W. M.; Haley, L. L.; Byers, M. G.; Eddy, R. L.; Shows, T. B.: Identification and chromosome location of genes involved in glycoprotein neuraminidase deficiency disorders. (Abstract) Am. J. Hum. Genet. 36: 205S only, 1984.
[0022360]12948.Fu, G. K.; Lin, D.; Zhang, M. Y. H.; Bikle, D. D.; Shackleton, C. H. L.; Miller, W. L.; Portale, A. A.: Cloning of human 25-hydroxyvitamin D-1-alpha-hydroxylase and mutations causing vitamin D-dependent rickets type 1. Molec. Endocr. 11: 1961-1970, 1997.
[0022361]12949.Neufeld, E. F.: Personal Communication. Los Angeles, Calif. 7/24/1987.
[0022362]12950.Caron, H.; Peter, M.; van Sluis, P.; Speleman, F.; de Kraker, J.; Laureys, G.; Michon, J.; Brugieres, L.; Voute, P. A.; Westerveld, A.; Slater, R.; Delattre, O.; Versteeg, R.: Evidence for two tumour suppressor loci on chromosomal bands 1p35-36 involved in neuroblastoma: one probably imprinted, another associated with N-myc amplification. Hum. Molec. Genet. 4: 535-539, 1995.
[0022363]12951.Blair, H. J.; Ho, M.; Monaco, A. P.; Fisher, S.; Craig, I. W.; Boyd, Y.: High-resolution comparative mapping of the proximal region of the mouse X chromosome. Genomics 28: 305-310, 1995.
[0022364]12952.Hayashi, Y. K.; Mizuno, Y.; Yoshida, M.; Nonaka, I.; Ozawa, E.; Arahata, K.: The frequency of patients with 50-kd dystrophin-associated glycoprotein (50DAG or adhalin) deficiency in a muscular dystrophy patient population in Japan: immunocytochemical analysis of 50DAG, 43DAG, dystrophin, and utrophin. Neurology 45: 551-554, 1995.
[0022365]12953.Hazama, R.; Tsujihata, M.; Mori, M.; Mori, K.: Muscular dystrophy in six young girls. Neurology 29: 1486-1491, 1979.
[0022366]12954.Higuchi, I.; Yamada, H.; Fukunaga, H.; Iwaki, H.; Okubo, R.; Nakagawa, M.; Osame, M.; Roberds, S. L.; Shimizu, T.; Campbell, K. P.; Matsumura, K.: Abnormal expression of laminin suggests disturbance of sarcolemma-extracellular matrix interaction in Japanese patients with autosomal recessive muscular dystrophy deficient in adhalin. J. Clin. Invest. 94: 601-606, 1994.
[0022367]12955.Jung, D.; Leturcq, F.; Sunada, Y.; Duclos, F.; Tome, F. M. S.; Moomaw, C.; Merlini, L.; Azibi, K.; Chaouch, M.; Slaughter, C.; Fardeau, M.; Kaplan, J.-C.; Campbell, K. P.: Absence of gamma-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12. FEBS Lett. 381: 15-20, 1996.
[0022368]12956.Kloepfer, H. W.; Talley, C.: Autosomal recessive inheritance of Duchenne-type muscular dystrophy. Ann. Hum. Genet. 22: 138-143, 1958.
[0022369]12957.Lasa, A.; Piccolo, F.; de Diego, C.; Jeanpierre, M.; Colomer, J.; Rodriguez, M. J.; Urtizberea, J. A.; Baiget, M.; Kaplan, J. C.; Gallano, P.: Severe limb girdle muscular dystrophy in Spanish gypsies: further evidence for a founder mutation in the gamma-sarcoglycan gene. Europ. J. Hum. Genet. 6: 396-399, 1998.
[0022370]12958.Leal, G. F.; Da-Silva, E. O.: Limb-girdle muscular dystrophy with apparently different clinical courses within sexes in a large inbred kindred. J. Med. Genet. 36: 714-718, 1999.
[0022371]12959.McNally, E. M.; Duggan, D.; Gorospe, J. R.; Bonnemann, C. G.; Fanin, M.; Pegoraro, E.; Lidov, H. G. W.; Noguchi, S.; Ozawa, E.; Finkel, R. S.; Cruse, R. P.; Angelini, C.; Kunkel, L. M.; Hoffman, E. P.: Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy. Hum. Molec. Genet. 5: 1841-1847, 1996.
[0022372]12960.Noguchi, S.; McNally, E. M.; Ben Othmane, K.; Hagiwara, Y.; Mizuno, Y.; Yoshida, M.; Yamamoto, H.; Bonnemann, C. G.; Gussoni, E.; Denton, P. H.; Kyriakides, T.; Middleton, L.; Hentati, F.; Ben Hamida, M.; Nonaka, I.; Vance, J. M.; Kunkel, L. M.; Ozawa, E.: Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. Science 270: 819-821, 1995.
[0022373]12961.Passos-Bueno, M. R.; Bakker, E.; Marie, S. K.; Pavanello, R. C.; Vainzof, M.; Carvalho, A. A.; Cohen, D.; Beckmann, J.; Zatz, M.: Exclusion of the 15q locus as a candidate gene for severe childhood autosomal recessive Duchenne-like muscular dystrophy in Brazilian families. Hum. Molec. Genet. 2: 201-202, 1993.
[0022374]12962.Passos-Bueno, M. R.; Oliveira, J. R.; Bakker, E.; Anderson, R. D.; Marie, S. K. N.; Vainzof, M.; Roberds, S.; Campbell, K. P.; Zatz, M.: Genetic heterogeneity for Duchenne-like muscular dystrophy (DLMD) based on linkage and 50 DAG analysis. Hum. Molec. Genet. 2: 1945-1947, 1993.
[0022375]12963.Piccolo, F.; Jeanpierre, M.; Leturcq, F.; Dode, C.; Azibi, K.; Toutain, A.; Merlini, L.; Jarre, L.; Navarro, C.; Krishnamoorthy, R.; Tome, F. M. S.; Urtizberea, J. A.; Beckmann, J. S.; Campbell, K. P.; Kaplan, J.-C.: A founder mutation in the gamma-sarcoglycan gene of Gypsies possibly predating their migration out of India. Hum. Molec. Genet. 5: 2019-2022, 1996.
[0022376]12964.Piccolo, F.; Roberds, S. L.; Jeanpierre, M.; Leturcq, F.; Azibi, K.; Beldjord, C.; Carrie, A.; Recan, D.; Chaouch, M.; Reghis, A.; El Kerch, F.; Sefiani, A.; Voit, T.; Merlini, L.; Collin, H.; Eymard, B.; Beckmann, J. S.; Romero, N. B.; Tome, F. M. S.; Fardeau, M.; Campbell, K. P.; Kaplan, J.-C.: Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. Nature Genet. 10: 213-215, 1995.
[0022377]12965.Skyring, A. P.; McKusick, V. A.: Clinical, genetic and electrocardiographic studies in childhood muscular dystrophy. Am. J. Med. Sci. 242: 534-547, 1961.
[0022378]12966.Somer, H.; Voutilainen, A.; Knuutila, S.; Kaitila, I.; Rapola, J.; Leinonen, H.: Duchenne-like muscular dystrophy in two sisters with normal karyotypes: evidence for autosomal recessive inheritance. Clin. Genet. 28: 151-156, 1985.
[0022379]12967.Stec, I.; Kres, W.; Meng, G.; Muller, B.; Muller, C. R.; Grimm : Estimate of severe autosomal recessive limb-girdle muscular dystrophy (LGMD2C, LGMD2D) among sporadic muscular dystrophy males; a study of 415 men. J. Clin. Genet. 32: 930-933, 1995.
[0022380]12968.Todorova, A.; Ashikov, A.; Beltcheva, O.; Tournev, I.; Kremensky, I.: C283Y mutation and other C-terminal nucleotide changes in the gamma-sarcoglycan gene in the Bulgarian Gypsy population. Hum. Mutat. 14: 40-44, 1999.
[0022381]12969.Vainzof, M.; Pavanello, R. C. M.; Pavanello-Filho, I.; Rapaport, D.; Passos-Bueno, M. R.; Zubrzycka-Gaarn, E. E.; Bulman, D. E.; Zatz, M.: Screening of male patients with autosomal recessive Duchenne dystrophy through dystrophin and DNA studies. Am. J. Med. Genet. 39: 38-41, 1991.
[0022382]12970.Zatz, M.; Passos-Bueno, M. R.; Rapaport, D.: Estimate of the proportion of Duchenne muscular dystrophy with autosomal recessive inheritance. Am. J. Med. Genet. 32: 407-410, 1989.
[0022383]12971.Aida, N.; Yagishita, A.; Takada, K.; Katsumata, Y.: Cerebellar MR in Fukuyama congenital muscular dystrophy: polymicrogyria with cystic lesions. Am. J. Neuroradiol. 15: 1755-1759, 1994.
[0022384]12972.Beggs, A. H.; Neumann, P. E.; Arahata, K.; Arikawa, E.; Nonaka, I.; Anderson, M. S.; Kunkel, L. M.: Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy. Proc. Nat. Acad. Sci. 89: 623-627, 1992.
[0022385]12973.Colombo, R.; Bignamini, A. A.; Carobene, A.; Sasaki, J.; Tachikawa, M.; Kobayashi, K.; Toda, T.: Age and origin of the FCMD 3-prime-untranslated-region retrotransposal insertion mutation causing Fukuyama-type congenital muscular dystrophy in the Japanese population. Hum. Genet. 107: 559-567, 2000.
[0022386]12974.Dambska, M.; Wisniewski, K.; Sher, J.; Solish, G.: Cerebro-oculo-muscular syndrome: a variant of Fukuyama congenital cerebro-muscular dystrophy. Clin. Neuropath. 1: 93-98, 1982.
[0022387]12975.Fukuyama, Y.; Kawazura, M.; Haruna, H.: A peculiar form of congenital progressive muscular dystrophy: report of fifteen cases. Paediat. Univ. Tokyo 4: 5-8, 1960.
[0022388]12976.Ban, Y.; Taniyama, M.; Ban, Y.: Vitamin D receptor gene polymorphism is associated with Graves' disease in the Japanese population. J. Clin. Endocr. Metab. 85: 4639-4643, 2000.
[0022389]12977.Duprez, L.; Parma, J.; Van Sande, J.; Allgeier, A.; Leclere, J.; Schvartz, C.; Delisle, M.-J.; Decoulx, M.; Orgiazzi, J.; Dumont, J.; Vassart, G.: Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism. Nature Genet. 7: 396-401, 1994.
[0022390]12978.Pearce, S. H. S.; Cheetham, T.; Imrie, H.; Vaidya, B.; Barnes, N. D.; Bilous, R. W.; Carr, D.; Meeran, K.; Shaw, N. J.; Smith, C. S.; Toft, A. D.; Williams, G.; Kendall-Taylor, P.: A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1. Am. J. Hum. Genet. 63: 1675-1684, 1998.
[0022391]12979.Hitzenberger, K.: Autotoxic cyanosis due to intraglobular methemoglobinemia. Wien. Arch. Med. 23: 85-96, 1932.
[0022392]12980.Baker, A. R.; McDonnell, D. P.; Hughes, M.; Crisp, T. M.; Mangelsdorf, D. J.; Haussler, M. R.; Pike, J. W.; Shine, J.; O'Malley, B. W.: Cloning and expression of full-length cDNA encoding human vitamin D receptor. Proc. Nat. Acad. Sci. 85: 3294-3298, 1988.
[0022393]12981.Faraco, J. H.; Morrison, N. A.; Baker, A.; Shine, J.; Frossard, P. M.: ApaI dimorphism at the human vitamin D receptor gene locus. Nucleic Acids Res. 17: 2150, 1989.
[0022394]12982.Garnero, P.; Borel, O.; Sornay-Rendu, E.; Arlot, M. E.; Delmas, P. D.: Vitamin D receptor gene polymorphisms are not related to bone turnover, rate of bone loss, and bone mass in postmenopausal women: the OFELY study. J. Bone Miner. Res. 11: 827-834, 1996.
[0022395]12983.Houston, L. A.; Grant, S. F. A.; Reid, D. M.; Ralston, S. H.: Vitamin D receptor polymorphism, bone mineral density, and osteoporotic vertebral fracture: studies in a UK population. Bone 18: 249-252, 1996.
[0022396]12984.Hughes, M. R.; Malloy, P. J.; Kieback, D. G.; Kesterson, R. A.; Pike, J. W.; Feldman, D.; O'Malley, B. W.: Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets. Science 242: 1702-1705, 1988.
[0022397]12985.Hustmyer, F. G.; Peacock, M.; Hui, S.; Johnston, C. C.; Christian, J.: Bone mineral density in relation to polymorphism at the vitamin D receptor gene locus. J. Clin. Invest. 94: 2130-2134, 1994.
[0022398]12986.Kelly, P. J.; Hopper, J. L.; Macaskill, G. T.; Pocock, N. A.; Sambrook, P. N.; Eisman, J. A.: Genetic factors in bone turnover. J. Clin. Endocr. Metab. 72: 808-813, 1991.
[0022399]12987.Lim, S. K.; Park, Y. S.; Park, J. M.; Song, Y. D.; Lee, E. J.; Kim, K. R.; Lee, H. C.; Huh, K. B.: Lack of association between vitamin D receptor genotypes and osteoporosis in Koreans. J. Clin. Endocr. Metab. 80: 3677-3681, 1995.
[0022400]12988.Malloy, P. J.; Eccleshall, T. R.; Gross, C.; Van Maldergem, L.; Bouillon, R.; Feldman, D.: Hereditary vitamin D resistant rickets caused by a novel mutation in the vitamin D receptor that results in decreased affinity for hormone and cellular hyporesponsiveness. J. Clin. Invest. 99: 297-304, 1997.
[0022401]12989.Malloy, P. J.; Hochberg, Z.; Tiosano, D.; Pike, J. W.; Hughes, M. R.; Feldman, D.: The molecular basis of hereditary 1,25-dihydroxyvitamin D3 resistant rickets in seven related families. J. Clin. Invest. 86: 2071-2079, 1990.
[0022402]12990.Chuang, D. T.: Personal Communication. Dallas, Tex. 3/17/1995.
[0022403]12991.Hopkinson, D. A.; Corney, G.; Cook, P. J. L.; Robson, E. B.; Harris, H.: Genetically determined electrophoretic variants of human red cell NADH diaphorase. Ann. Hum. Genet. 34: 1-10, 1970.
[0022404]12992.Hors-Cayla, M. C.; Junien, C.; Heuertz, S.; Mattei, J. F.; Frezal, J.: Regional assignment of arylsulfatase A, mitochondrial aconitase and NADH-cytochrome b5 reductase by somatic cell hybridization. Hum. Genet. 58: 140-143, 1981.
[0022405]12993.Hsieh, H.-S.; Jaffe, E. R.: Electrophoretic and functional variants of NADHmethemoglobin reductase in hereditary methemoglobinemia. J. Clin. Invest. 50: 196-202, 1971.
[0022406]12994.Jaffe, E. R.: The reduction of methemoglobin in erythrocytes of a patient with congenital methemoglobinemia, subjects with erythrocyte glucose-6-phosphate dehydrogenase deficiency, and normal individuals. Blood 21: 561-572, 1963.
[0022407]12995.Jaffe, E. R.; Hsieh, H. S.: DPNH-methemoglobin reductase deficiency and hereditary methemoglobinemia. Seminars Hemat. 8: 417-437, 1971.
[0022408]12996.Jenkins, M. M.; Prchal, J. T.: A high-frequency polymorphism of NADH-cytochrome b5 reductase in African-Americans. Hum. Genet. 99: 248-250, 1997.
[0022409]12997.Johnson, C. J.; Bonrud, P. A.; Dosch, T. L.; Kilness, A. W.; Senger, K. A.; Busch, D. C.; Meyer, M. R.: Fatal outcome of methemoglobinemia in an infant. J.A.M.A. 257: 2796-2797, 1987.
[0022410]12998.Junien, C.; Leroux, A.; Lostanlen, D.; Reghis, A.; Boue, J.; Nicolas, H.; Boue, A.; Kaplan, J. C.: Prenatal diagnosis of congenital enzymopenic methaemoglobinaemia with mental retardation due to generalized cytochrome b5 reductase deficiency: first report of two cases. Prenatal Diag. 1: 17-24, 1981.
[0022411]12999.Junien, C.; Vibert, M.; Weil, D.; Van Cong, N.; Kaplan, J.-C. : Assignment of NADHcytochrome b5 reductase (DIA-1 locus) to human chromosome 22. Hum. Genet. 42: 233-239, 1978.
[0022412]13000.Kaftory, A.; Freundlich, E.; Manaster, J.; Shukri, A.; Hegesh, E.: Prenatal diagnosis of congenital methemoglobinemia with mental retardation. Israel J. Med. Sci. 22: 837-840, 1986.
[0022413]13001.Kaplan, J. C.: Personal Communication. Paris, France 9/25/1981.
[0022414]13002.Kaplan, J. C.; Beutler, E.: Electrophoresis of red cell NADH- and NADPH-diaphorases in normal subjects and patients with congenital methemoglobinemia. Biochem. Biophys. Res. Commun. 29: 605-610, 1967.
[0022415]13003.Kaplan, J. C.; Leroux, A.; Beauvais, P.: Formes cliniques et biologiques du deficit en cytochrome b5 reductase. Comp. Rend. Soc. Biol. 173: 368-379, 1979.
[0022416]13004.Katsube, T.; Sakamoto, N.; Kobayashi, Y.; Seki, R.; Hirano, M.; Tanishima, K.; Tomoda, A.; Takazakura, E.; Yubisui, T.; Takeshita, M.; Sakaki, Y.; Fukumaki, Y.: Exonic point mutations in NADH-cytochrome B5 reductase genes of homozygotes for hereditary methemoglobinemia, types I and III: putative mechanisms of tissue-dependent enzyme deficiency. Am. J. Hum. Genet. 48: 799-808, 1991.
[0022417]13005.Kobayashi, Y.; Fukumaki, Y.; Yubisui, T.; Inoue, J.; Sakaki, Y. : Serine-proline replacement at residue 127 of NADH-cytochrome b5 reductase causes hereditary methemoglobinemia, generalized type. Blood 75: 1408-1413, 1990.
[0022418]13006.Lawson, D. L.; Miale, T. D.; Harvey, J. L.; Bucciarelli, R. L.; Nelson, L. S.: Leukocyte diaphorase deficiency in congenital methemoglobinemia: a valuable prognostic indicator. Biol. Neonate 32: 193-196, 1977.
[0022419]13007.Leroux, A.; Junien, C.; Kaplan, J.-C.; Bamberger, J.: Generalised deficiency of cytochrome b5 reductase in congenital methaemoglobinaemia with mental retardation. Nature 258: 619-620, 1975.
[0022420]13008.Leroux, A.; Torlinski, L.; Kaplan, J.-C.: Soluble and microsomal forms of NADHcytochrome b5 reductase from human placenta: similarity with NADH-methemoglobin reductase from human erythrocytes. Biochim. Biophys. Acta 481: 50-62, 1977.
[0022421]13009.Lostanlen, D.; Lenoir, G.; Kaplan, J.-C.: NADH-cytochrome b5 reductase activity in lymphoid cell lines: expression of the defect in Epstein-Barr virus transformed lymphoblastoid cell lines from patients with recessive congenital methemoglobinemia. J. Clin. Invest. 68: 279-285, 1981.
[0022422]13010.Muller, J.; Murawski, K.; Szymanowska, Z.; Koziorowski, A.; Radwan, L.: Hereditary deficiency of NADPH 2-methaemoglobin reductase. Acta Med. Scand. 173: 243-247, 1963.
[0022423]13011.Nagai, T.; Shirabe, K.; Yubisui, T.; Takeshita, M.: Analysis of mutant NADHcytochrome b5 reductase: apparent 'type III' methemoglobinemia can be explained as type I with an unstable reductase. Blood 81: 808-814, 1993.
[0022424]13012.Owen, E. P.; Berens, J.; Marinaki, A. M.; Ipp, H.; Harley, E. H.: Recessive congenital methaemoglobinaemia type II, a new mutation which causes incorrect splicing in the NADH-cytochrome b-5 reductase gene. J. Inherit. Metab. Dis. 20: 610 only, 1997.
[0022425]13013.Ozsoylu, S.: Hereditary methemoglobinemic cyanosis due to diaphorase deficiency in three successive generations. Acta Haemat. 37: 276-283, 1967.
[0022426]13014.Pietrini, G.; Aggujaro, D.; Carrera, P.; Malyszko, J.; Vitale, A.; Borgese, N.: A single mRNA, transcribed from an alternative, erythroid-specific, promoter, codes for two non-myristylated forms of NADH-cytochrome b(5) reductase. J. Cell Biol. 117: 975-986, 1992.
[0022427]13015.Reghis, A.; Benabadji, M.; Tchen, P.; Kaplan, J. C.: Quantitative variations of red-cell cytochrome b5 reductase (NADH-methemoglobin-reductase) in the Algerian population: evidence for defective alleles. Hum. Genet. 59: 148-153, 1981.
[0022428]13016.Reghis, A.; Troungos, C.; Lostanlen, D.; Krishnamoorthy, R.; Kaplan, J. C.: Characterization of weak alleles at the DIA1 locus (Mustapha 1, Mustapha 2, and Mustapha 3) in the Algerian population. Hum. Genet. 64: 173-175, 1983.
[0022429]13017.Rossi, E. C.; Bryan, G. T.; Schilling, R. F.; Clatanoff, D. V. : Remission of chronic methemoglobinemia following neomycin therapy. Am. J. Med. 40: 440-447, 1966.
[0022430]13018.Schwartz, J. M.; Jaffe, E. R.: Hereditary methemoglobinemia with deficiency of NADH dehydrogenase.In: Stanbury, J. B.; Wyngaarden, J. B.; Fredrickson, D. S.: The Metabolic Basis of Inherited Disease. New York: McGraw-Hill (pub.) (4th ed.): 1978. Pp. 1452-1464.
[0022431]13019.Fu, G. K.; Portale, A. A.; Miller, W. L.: Complete structure of the human gene for the vitamin D 1-alpha-hydroxylase, P450cl-alpha. DNA Cell Biol. 16: 1499-1507, 1997.
[0022432]13020.Glorieux, F. H.: Personal Communication. Montreal, Quebec, Canada 3/20/1996.
[0022433]13021.Glorieux, F. H.; Arabian, A.; Delvin, E. E.: Pseudo-vitamin D deficiency: absence of 25-hydroxyvitamin D 1-alpha-hydroxylase activity in human placenta decidual cells. J. Clin. Endocr. Metab. 80: 2255-2258, 1995.
[0022434]13022.Hamilton, R.; Harrison, J.; Fraser, D.; Raddle, I.; Morecki, R.; Paunier, L.: The small intestine in vitamin D dependent rickets. Pediatrics 45: 364-373, 1970.
[0022435]13023.Holick, M. F.; Uskokovic, M.; Henley, J. W.; MacLaughlin, J.; Holick, S. A.; Potts, J. T., Jr.: The photoproduction of 1-alpha, 25-dihydroxyvitamin D3 in skin: an approach to the therapy of vitamin-D-resistant syndromes. New Eng. J. Med. 303: 350-354, 1980.
[0022436]13024.Kitanaka, S.; Takeyama, K.; Murayama, A.; Sato, T.; Okumura, K.; Nogami, M.; Hasegawa, Y.; Niimi, H.; Yanagisawa, J.; Tanaka, T.; Kato, S.: Inactivating mutations in the 25-hydroxyvitamin D3-1-alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets. New Eng. J. Med. 338: 653-661, 1998.
[0022437]13025.Kong, X. F.; Zhu, X. H.; Pei, Y. L.; Jackson, D. M.; Holick, M. F.: Molecular cloning, characterization, and promoter analysis of the human 25-hydroxyvitamin D(3)-1-alpha-hydroxylase gene. Proc. Nat. Acad. Sci. 96: 6988-6993, 1999.
[0022438]13026.Kitanaka, S.; Murayama, A.; Sakaki, T.; Inouye, K.; Seino, Y.; Fukumoto, S.; Shima, M.; Yukizane, S.; Takayanagi, M.; Niimi, H.; Takeyama, K.-I.; Kato, S.: No enzyme activity of 25-hydroxyvitamin D3 1-alpha-hydroxylase gene product in pseudovitamin D deficiency rickets, including that with mild clinical manifestation. J. Clin. Endocr. Metab. 84: 4111-4117, 1999.
[0022439]13027.Labuda, M.; Fujiwara, T. M.; Ross, M. V.; Morgan, K.; Garcia-Heras, J.; Ledbetter, D. H.; Hughes, M. R.; Glorieux, F. H.: Two hereditary defects related to vitamin D metabolism map to the same region of human chromosome 12q13-14. J. Bone Miner. Res. 7: 1447-1453, 1992.
[0022440]13028.Labuda, M.; Morgan, K.; Glorieux, F. H.: Regional assignment of vitamin D dependent rickets type I to chromosome 12q14. (Abstract) Am. J. Hum. Genet. 45 (suppl.): A147 only, 1989.
[0022441]13029.Labuda, M.; Morgan, K.; Glorieux, F. H.: Autosomal recessive, vitamin D dependency type I (VDD1) mapped to chromosome 12q by linkage analysis. (Abstract) Cytogenet. Cell Genet. 51: 1027-1028, 1989.
[0022442]13030.Labuda, M.; Morgan, K.; Glorieux, F. H.: Mapping autosomal recessive vitamin D dependency type I to chromosome 12q14 by linkage analysis. Am. J. Hum. Genet. 47: 28-36, 1990.
[0022443]13031.Labuda, M.; Ross, M. V.; Fujiwara, T. M.; Morgan, K.; Ledbetter, D.; Hughes, M. R.; Glorieux, F. H.: Two hereditary defects related to vitamin D metabolism map to the same region of human chromosome 12q. (Abstract) Cytogenet. Cell Genet. 58: 1978 only, 1991.
[0022444]13032.Liberman, U. A.; Eil, C.; Marx, S. J.: Resistance to 1,25-dihydroxyvitamin D: association with heterogeneous defects in cultured skin fibroblasts. J. Clin. Invest. 71: 192-200, 1983.
[0022445]13033.Marx, S. J.: Vitamin D and other calciferols.In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D.: The Metabolic Basis of Inherited Disease. New York: McGraw-Hill (pub.) (6th ed.) II: 1989. Pp. 2029-2045.
[0022446]13034.Monkawa, T.; Yoshida, T.; Wakino, S.; Shinki, T.; Anazawa, H.; DeLuca, H. F.; Suda, T.; Hayashi, M.; Saruta, T.: Molecular cloning of cDNA and genomic DNA for human 25-hydroxyvitamin D3 1 alpha-hydroxylase. Biochem. Biophys. Res. Commun. 239: 527-533, 1997.
[0022447]13035.Panda, D. K.; Miao, D.; Tremblay, M. L.; Sirois, J.; Farookhi, R.; Hendy, G. N.; Goltzman, D.: Targeted ablation of the 25-hydroxyvitamin D 1-alpha-hydroxylase enzyme: evidence for skeletal, reproductive, and immune dysfunction. Proc. Nat. Acad. Sci. 98: 7498-7503, 2001.
[0022448]13036.Prader, A.; Illig, R.; Heierli, E.: Eine besondere Form der primaeren Vitamin-Dresistenten Rachitis mit Hypocalcaemie und autosomal-dominantem Erbgang: die hereditaere Pseudo-Mangelrachitis. Helv. Paediat. Acta 16: 452-468, 1961.
[0022449]13037.Prader, A.; Kind, H. P.; DeLuca, H. F.: Pseudovitamin D deficiency (vitamin D dependency).In: Bickel, H.; Stern, J.: Inborn Errors of Calcium and Bone Metabolism. Baltimore: University Park Press (pub.) 1976. Pp. 115-123.
[0022450]13038.Scriver, C. R.: Vitamin D dependency. (Editorial) Pediatrics 45: 361-363, 1970.
[0022451]13039.Scriver, C. R.; Reade, T. M.; DeLuca, H. F.; Hamstra, A. J.: Serum 1, 25-dihydroxyvitamin D levels in normal subjects and in patients with hereditary rickets or bone disease. New Eng. J. Med. 299: 976-979, 1978.
[0022452]13040.Sinnett, D.; Deragon, J.-M.; Simard, L. R.; Labuda, D.: Alumorphs--human DNA polymorphisms detected by polymerase chain reaction using Alu-specific primers. Genomics 7: 331-334, 1990.
[0022453]13041.St-Arnaud, R.; Messerlian, S.; Moir, J. M.; Omdahl, J. L.; Glorieux, F. H.: The 25-hydroxyvitamin D1-alpha-hydroxylase gene maps to the pseudovitamin D-deficiency rickets (PDDR) disease locus. J. Bone Miner. Res. 12: 1552-1559, 1997.
[0022454]13042.Takeyama, K.; Kitanaka, S.; Sato, T.; Kobori, M.; Yanagisawa, J.; Kato, S.: 25-hydroxyvitamin D3 1-alpha-hydroxylase and vitamin D synthesis. Science 277: 1827-1830, 1997.
[0022455]13043.Wang, J. T.; Lin, C.-J.; Burridge, S. M.; Fu, G. K.; Labuda, M.; Portale, A. A.; Miller, W. L.: Genetics of vitamin D 1-alpha-hydroxylase deficiency in 17 families. Am. J. Hum. Genet. 63: 1694-1702, 1998.
[0022456]13044.Winkler, I.; Schreiner, F.; Harmeyer, J.: Absence of renal 25-hydroxycholecalciferol-1-hydroxylase activity in a pig strain with vitamin D-dependent rickets. Calcif. Tissue Int. 38: 87-94, 1986.
[0022457]13045.Zehnder, D.; Bland, R.; Williams, M. C.; McNinch, R. W.; Howie, A. J.; Stewart, P. M.; Hewison, M.: Extrarenal expression of 25-hydroxyvitamin D3-1-alpha-hydroxylase. J. Clin. Endocr. Metab. 86: 888-894, 2001.
[0022458]13046.Zietkiewicz, E.; Labuda, M.; Sinnett, D.; Glorieux, F. H.; Labuda, D.: Linkage mapping by simultaneous screening of multiple polymorphic loci using Alu oligonucleotide-directed PCR. Proc. Nat. Acad. Sci. 89: 8448-8451, 1992.
[0022459]13047.Fukuyama, Y.; Osawa, M.; Suzuki, H.: Congenital progressive muscular dystrophy of the Fukuyama type--clinical, genetic and pathological considerations. Brain Dev. 3: 1-30, 1981.
[0022460]13048.Cohen-Solal, L.; Bonaventure, J.; Maroteaux, P.: Dominant mutations in familial lethal and severe osteogenesis imperfecta. Hum. Genet. 87: 297-301, 1991.
[0022461]13049.Pope, F. M.; Nicholls, A. C.; McPheat, J.; Talmud, P.; Owen, R. : Collagen genes and proteins in osteogenesis imperfecta. J. Med. Genet. 22: 466-478, 1985.
[0022462]13050.Pruchno, C. J.; Cohn, D. H.; Wallis, G. A.; Willing, M. C.; Starman, B. J.; Zhang, X.; Byers, P. H.: Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen. Hum. Genet. 87: 33-40, 1991.
[0022463]13051.Starman, B. J.; Eyre, D.; Charbonneau, H.; Harrylock, M.; Weis, M. A.; Weiss, L.; Graham, J. M., Jr.; Byers, P. H.: Osteogenesis imperfecta: the position of substitution for glycine by cysteine in the triple helical domain of the pro-alpha-1(I) chains of type I collagen determines the clinical phenotype. J. Clin. Invest. 84: 1206-1214, 1989.
[0022464]13052.Kobayashi, K.; Nakahori, Y.; Miyake, M.; Matsumura, K.; Kondo-Iida, E.; Nomura, Y.; Segawa, M.; Yoshioka, M.; Saito, K.; Osawa, M.; Hamano, K.; Sakakihara, Y.; Nonaka, I.; Nakagome, Y.; Kanazawa, I.; Nakamura, Y.; Tokunaga, K.; Toda, T.: An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature 394: 388-392, 1998.
[0022465]13053.Kondo-Iida, E.; Kobayashi, K.; Watanabe, M.; Sasaki, J.; Kumagai, T.; Koide, H.; Saito, K.; Osawa, M.; Nakamura, Y.; Toda, T.: Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD). Hum. Molec. Genet. 8: 2303-2309, 1999.
[0022466]13054.Kondo-Iida, E.; Saito, K.; Tanaka, H.; Tsuji, S.; Ishihara, T.; Osawa, M.; Fukuyama, Y.; Toda, T.: Molecular genetic evidence of clinical heterogeneity in Fukuyama-type congenital muscular dystrophy. Hum. Genet. 99: 427-432, 1997.
[0022467]13055.Miura, K.; Shirasawa, H.: Congenital muscular dystrophy of the Fukuyama type (FCMD) with severe myocardial fibrosis: a case report with postmortem angiography. Acta Path. Jpn. 37: 1823-1835, 1987.
[0022468]13056.Miyake, M.; Nakahori, Y.; Matsushita, I.; Kobayashi, K.; Mizuno, K.; Hirai, M.; Kanazawa, I.; Nakagome, Y.; Tokunaga, K.; Toda, T. : YAC and cosmid contigs encompassing the Fukuyama-type congenital muscular dystrophy (FCMD) candidate region on 9q31. Genomics 40: 284-293, 1997.
[0022469]13057.Murakami, T.; Konishi, Y.; Takamiya, M.; Tsukagoshi, H.: Congenital muscular dystrophy associated with micropolygyria--report of 2 cases. Acta Path. Jpn. 25: 599-612, 1975.
[0022470]13058.Nonaka, I.; Sugita, H.; Takada, K.; Kumagai, K.: Muscle histochemistry in congenital muscular dystrophy with central nervous system involvement. Muscle Nerve 5: 102-106, 1982.
[0022471]13059.Saito, K.; Osawa, M.; Wang, Z.-P.; Ikeya, K.; Fukuyama, Y.; Kondo-Iida, E.; Toda, T.; Ohashi, H.; Kurosawa, K.; Wakai, S.; Kaneko, K.: Haplotype-phenotype correlation in Fukuyama congenital muscular dystrophy. Am. J. Med. Genet. 92: 184-190, 2000.
[0022472]13060.Sasaki, J.; Ishikawa, K.; Kobayashi, K.; Kondo-Iida, E.; Fukayama, M.; Mizusawa, H.; Takashima, S.; Sakakihara, Y.; Nakamura, Y.; Toda, T.: Neuronal expression of the fukutin gene. Hum. Molec. Genet. 9: 3083-3090, 2000.
[0022473]13061.Takada, K.; Nakamura, H.; Tanaka, J.: Cortical dysplasia in congenital muscular dystrophy with central nervous system involvement (Fukuyama type). J. Neuropath. Exp. Neurol. 43: 395-407, 1984.
[0022474]13062.Toda, T.; Kanazawa, I.; Nakamura, Y.: Localization of a gene responsible for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33 by linkage analysis. (Abstract) Human Genome Mapping Workshop 93 20, 1993.
[0022475]13063.Toda, T.; Miyake, M.; Kobayashi, K.; Mizuno, K.; Saito, K.; Osawa, M.; Nakamura, Y.; Kanazawa, I.; Nakagome, Y.; Yokunaga, K.; Nakahori, Y.: Linkage-disequilibrium mapping narrows the Fukuyama-type congenital muscular dystrophy (FCMD) candidate region to less than 100 kb. Am. J. Hum. Genet. 59: 1313-1320, 1996.
[0022476]13064.Valenzuela, D. M.; Stitt, T. N.; DiStefano, P. S.; Rojas, E.; Mattsson, K.; Compton, D. L.; Nunez, L.; Park, J. S.; Stark, J. L.; Gies, D. R.; Thomas, S.; Le Beau, M. M.; Fernald, A. A.; Copeland, N. G.; Jenkins, N. A.; Burden, S. J.; Glass, D. J.; Yancopoulos, G. D.: Receptor tyrosine kinase specific for the skeletal muscle lineage: expression in embryonic muscle , at the neuromuscular junction, and after injury. Neuron 15: 573-584, 1995.
[0022477]13065.Yoshioka, M.; Kuroki, S.: Clinical spectrum and genetic studies of Fukuyama congenital muscular dystrophy. Am. J. Med. Genet. 53: 245-250, 1994.
[0022478]13066.Ben-Yoseph, Y.; Momoi, T.; Baylerian, M. S.; Nadler, H. L.: K(m) defect in neuraminidase of dysmorphic type sialidosis with and without beta-galactosidase deficiency. Clin. Chim. Acta 123: 233-240, 1982.
[0022479]13067.Bonten, E.; van der Spoel, A.; Fornerod, M.; Grosveld, G.; d'Azzo, A.: Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis. Genes Dev. 10: 3156-3169, 1996.
[0022480]13068.Bonten, E. J.; Arts, W. F.; Beck, M.; Covanis, A.; Donati, M. A.; Parini, R.; Zammarchi., E.; d'Azzo, A.: Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis. Hum. Molec. Genet. 9: 2715-2725, 2000.
[0022481]13069.Cantz, M.; Gehler, J.; Spranger, J. W.: Mucolipidosis I: increased sialic acid content and deficiency of an alpha-N-acetylneuraminidase in cultured fibroblasts. Biochem. Biophys. Res. Commun. 74: 732-738, 1977.
[0022482]13070.Den Tandt, W. R.; Leroy, J. G.: Deficiency of neuraminidase in the sialidoses and the mucolipidoses. Hum. Genet. 53: 383-388, 1980.
[0022483]13071.Durand, P.; Gatti, R.; Cavalieri, S.; Borrone, C.; Tondeur, M.; Michalski, J.-C.; Strecker, G.: Sialidosis (mucolipidosis I). Helv. Paediat. Acta 32: 391-400, 1977.
[0022484]13072.Federico, A.; Cecio, A.; Apponi Battini, G.; Michalski, J.-C.; Strecker, G.; Guazzi, G. C.: Macular cherry-red spot and myoclonus syndrome: juvenile form of sialidosis. J. Neurol. Sci. 48: 157-169, 1980.
[0022485]13073.Franceschetti, S.; Uziel, G.; Di Donato, S.; Caimi, L.; Avanzini, G.: Cherry-red spot myoclonus syndrome and alpha-neuraminidase deficiency: neurophysiological, pharmacological and biochemical study in an adult. J. Neurol. Neurosurg. Psychiat. 43: 934-940, 1980.
[0022486]13074.Gascon, G.; Wallenberg, B.; Daif, A. K.; Ozand, P.: Successful treatment of cherry red spot-myoclonus syndrome with 5-hydroxytryptophan. Ann. Neurol. 24: 453-455, 1988.
[0022487]13075.Gillan, J. E.; Lowden, J. A.; Gaskin, K.; Cutz, E.: Congenital ascites as a presenting sign of lysosomal storage disease. J. Pediat. 104: 225-231, 1984.
[0022488]13076.Gravel, R. A.; Lowden, J. A.; Callahan, J. W.; Wolfe, L. S.; Ng Yin Kin, N. M. K.: Infantile sialidosis: a phenocopy of type 1 GM1 gangliosidosis distinguished by genetic complementation and urinary oligosaccharides. Am. J. Hum. Genet. 31: 669-679, 1979.
[0022489]13077.Hancock, L. W.; Thaler, M. M.; Horwitz, A. L.; Dawson, G.: Generalized Nacetylneuraminic acid storage disease: quantitation and identification of the monosaccharide accumulating in brain and other tissues. J. Neurochem. 38: 803-809, 1982.
[0022490]13078.Harada, F.; Nishimura, Y.; Suzuki, K.; Matsumoto, H.; Oohira, T.; Matsuda, I.; Sasazuki, T.: The patient with combined deficiency of neuraminidase and 21-hydroxylase. Hum. Genet. 75: 91-92, 1987.
[0022491]13079.Harzer, K.; Cantz, M.; Sewell, A. C.; Dhareshwar, S. S.; Roggendorf, W.; Heckl, R. W.; Schofer, O.; Thumler, R.; Peiffer, J.; Schlote, W.: Normomorphic sialidosis in two female adults with severe neurologic disease and without sialyl oligosacchariduria. Hum. Genet. 74: 209-214, 1986.
[0022492]13080.Itoh, K.; Naganawa, Y.; Matsuzawa, F.; Aikawa, S.; Doi, H.; Sasagasako, N.; Yamada, T.; Kira, J.; Kobayashi, T.; Pshezhetsky, A. V.; Sakuraba, H.: Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymes. J. Hum. Genet. 47: 29-37, 2002.
[0022493]13081.Itoyama, Y.; Goto, I.; Kuroiwa, Y.; Takeichi, M.; Kawabuchi, M.; Tanaka, Y.: Familial juvenile neuronal storage disease: new disease or variant of juvenile lipidosis?. Arch. Neurol. 35: 792-800, 1978.
[0022494]13082.Kelly, T. E.; Bartoshesky, L.; Harris, D. J.; McCauley, R. G. K.; Feingold, M.; Schott, G.: Mucolipidosis I (acid neuraminidase deficiency): three cases and delineation of the variability of the phenotype. Am. J. Dis. Child. 135: 703-708, 1981.
[0022495]13083.Kelly, T. E.; Graetz, G.: Isolated acid neuraminidase deficiency: a distinct lysosomal storage disease. Am. J. Med. Genet. 1: 31-46, 1977.
[0022496]13084.Klein, D.; Klein, J.: Polymorphism of the Apl (Neu-1) locus in the mouse. Immunogenetics 16: 181-184, 1982.
[0022497]13085.Klein, J.; Klein, D.; Figueroa, F.: Should the neuraminidase-1 locus be considered as part of the major histocompatibility complex?. Hum. Immun. 15: 396-403, 1986.
[0022498]13086.Lalley, P. A.; Shows, T. B.: Lysosomal acid phosphatase deficiency: liver specific variant in the mouse. Genetics 87: 305-317, 1977.
[0022499]13087.Laver, J.; Fried, K.; Beer, S. I.; Iancu, T. C.; Heyman, E.; Bach, G.; Zeigler, M.: Infantile lethal neuraminidase deficiency (sialidosis). Clin. Genet. 23: 97-101, 1983.
[0022500]13088.Loeb, H.; Teppel, M.; Cremer, N.: Clinical, biochemical and ultrastructural studies of an atypical form of mucopolysaccharidosis. Acta Paediat. 58: 220-228, 1969.
[0022501]13089.Paschke, R.; Ludgate, M.: The thyrotropin receptor in thyroid diseases. New Eng. J. Med. 337: 1675-1681, 1997.
[0022502]13090.Thomas, J. L.; Leclere, J.; Hartemann, P.; Duheille, J.; Orgiazzi, J.; Petersen, M.; Janot, C.; Guedenet, J.-C.: Familial hyperthyroidism without evidence of autoimmunity. Acta Endocr. 100: 512-518, 1982.
[0022503]13091.Mitnick, M.; Reichlin, S.: Enzymatic synthesis of thyrotropin-releasing hormone (TRH) by hypothalamic 'TRH synthetase.'. Endocrinology 91: 1145-1153, 1972.
[0022504]13092.Cecchi, C.; Biasotto, M.; Tosi, M.; Avner, P.: The mottled mouse as a model for human Menkes disease: identification of mutations in the Atp7a gene. Hum. Molec. Genet. 6: 425-433, 1997.
[0022505]13093.Chelly, J.; Tumer, Z.; Tonnesen, T.; Petterson, A.; Ishikawa-Brush, Y.; Tommerup, N.; Horn, N.; Monaco, A. P.: Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein. Nature Genet. 3: 14-19, 1993.
[0022506]13094.Dagenais, S. L.; Adam, A. N.; Innis, J. W.; Glover, T. W.: A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease. Am. J. Hum. Genet. 69: 420-427, 2001.
[0022507]13095.Das, S.; Levinson, B.; Vulpe, C.; Whitney, S.; Gitschier, J.; Packman, S.: Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse. Am. J. Hum. Genet. 56: 570-576, 1995.
[0022508]13096.Dierick, H. A.; Ambrosini, L.; Spencer, J.; Glover, T. W.; Mercer, J. F. B.: Molecular structure of the Menkes disease gene (ATP7A). Genomics 28: 462-469, 1995.
[0022509]13097.Francis, M. J.; Jones, E. E.; Levy, E. R.; Ponnambalam, S.; Chelly, J.; Monaco, A. P.: A Golgi localization signal identified in the Menkes recombinant protein. Hum. Molec. Genet. 7: 1245-1252, 1998.
[0022510]13098.Grimes, A.; Hearn, C. J.; Lockhart, P.; Newgreen, D. F.; Mercer, J. F. B.: Molecular basis of the brindled mouse mutant (Mo-br): a murine model of Menkes disease. Hum. Molec. Genet. 6: 1037-1042, 1997.
[0022511]13099.Gu, Y.-H.; Kodama, H.; Murata, Y.; Mochizuki, D.; Yanagawa, Y.; Ushijima, H.; Shiba, T.; Lee, C.-C.: ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome. Am. J. Med. Genet. 99: 217-222, 2001.
[0022512]13100.Horn, N.: Personal Communication. Copenhagen, Denmark 2/25/1999.
[0022513]13101.Jankov, R. P.; Boerkoel, C. F.; Hellmann, J.; Sirkin, W. L.; Tumer, Z.; Horn, N.; Feigenbaum, A.: Lethal neonatal Menkes' disease with severe vasculopathy and fractures. Acta Paediat. 87: 1297-1300, 1998.
[0022514]13102.Kaler, S. G.; Gallo, L. K.; Proud, V. K.; Percy, A. K.; Mark, Y.; Segal, N. A.; Goldstein, D. S.; Holmes, C. S.; Gahl, W. A.: Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. Nature Genet. 8: 195-202, 1994.
[0022515]13103.Ketterling, R. P.; Drost, J. B.; Scaringe, W. A.; Liao, D.; Liu, J.; Kasper, C. K.; Sommer, S. S.: Reported in vivo splice-site mutations in the factor IX gene: severity of splicing defects and a hypothesis for predicting deleterious splice donor mutations. Hum. Mutat. 13: 221-231, 1999.
[0022516]13104.Levinson, B.; Conant, R.; Schnur, R.; Das, S.; Packman, S.; Gitschier, J.: A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome. Hum. Molec. Genet. 5: 1737-1742, 1996.
[0022517]13105.Mentzel, H. J.; Seidel, J.; Vogt, S.; Vogt, L.; Kaiser, W. A. : Vascular complications (splenic and hepatic artery aneurysms) in the occipital horn syndrome: report of a patient and review of the literature. Pediat. Radiol. 29: 19-22, 1999.
[0022518]13106.Mercer, J. F. B.; Livingston, J.; Hall, B.; Paynter, J. A.; Begy, C.; Chandrasekharappa, S.; Lockhart, P.; Grimes, A.; Bhave, M.; Siemieniak, D.; Glover, T. W.: Isolation of a partial candidate gene for Menkes disease by positional cloning. Nature Genet. 3: 20-25, 1993.
[0022519]13107.Moller, L. B.; Tumer, Z.; Lund, C.; Petersen, C.; Cole, T.; Hanusch, R.; Seidel, J.; Jensen, L. R.; Horn, N.: Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome. Am. J. Hum. Genet. 66: 1211-1220, 2000.
[0022520]13108.Packman, S.; Enns, G. M.; O'Toole, C. J.; Cox, V. A.; Golabi, M.: Atypical severe Menkes disease presenting with neonatal cutis laxa. (Abstract) Am. J. Hum. Genet. 61 (suppl.): A258 only, 1997.
[0022521]13109.Petris, M. J.; Camakaris, J.; Greenough, M.; LaFontaine, S.; Mercer, J. F. B.: A Cterminal di-leucine is required for localization of the Menkes protein in the trans-Golgi network. Hum. Molec. Genet. 7: 2063-2071, 1998.
[0022522]13110.Petris, M. J.; Strausak, D.; Mercer, J. F. B.: The Menkes copper transporter is required for the activation of tyrosinase. Hum. Molec. Genet. 9: 2845-2851, 2000.
[0022523]13111.Qian, Y.; Tiffany-Castiglioni, E.; Harris, E. D.: Sequence of a Menkes-type Cutransporting ATPase from rat C6 glioma cells: comparison of the rat protein with other mammalian Cutransporting ATPases. Molec. Cell. Biochem. 181: 49-61, 1998.
[0022524]13112.Reed, V.; Boyd, Y.: Mutation analysis provides additional proof that mottled is the mouse homologue of Menkes' disease. Hum. Molec. Genet. 6: 417-423, 1997.
[0022525]13113.Katoh, M.: Molecular cloning and characterization of MFRP, a novel gene encoding a membrane-type Frizzled-related protein. Biochem. Biophys. Res. Commun. 282: 116-123, 2001.
[0022526]13114.Koesters, R.; Adams, V.; Betts, D.; Moos, R.; Schmid, M.; Siermann, A.; Hassam, S.; Weitz, S.; Lichter, P.; Heitz, P. U.; von Knebel Doeberitz, M.; Briner, J.: Human eukaryotic initiation factor EIF2C1 gene: cDNA sequence, genomic organization, localization to chromosomal bands 1q34-p35, and expression. Genomics 61: 210-218, 1999.
[0022527]13115.Martinez, J.; Patkaniowska, A.; Urlaub, H.; Luhrmann, R.; Tuschi, T.: Single-stranded antisense siRNAs guide target RNA cleavage in RNAi. Cell 110: 563-574, 2002.
[0022528]13116.Suetsugu, S.; Miki, H.; Takenawa, T.: Identification of two human WAVE/SCAR homologues as general actin regulatory molecules which associate with the Arp2/3 complex. Biochem. Biophys. Res. Commun. 260: 296-302, 1999.
[0022529]13117.Sakai, T.; Toyoda, A.; Hashimoto, K.; Maeda, H.: Isolation and characterization of a novel zinc finger gene, ZNF219, and mapping to the human chromosome 14q11 region. DNA Res. 7: 137-141, 2000.
[0022530]13118.Hanaoka, E.; Ozaki, T.; Ohira, M.; Nakamura, Y.; Suzuki, M.; Takahashi, E.; Moriya, H.; Nakagawara, A.; Sakiyama, S.: Molecular cloning and expression analysis of the human DA41 gene and its mapping to chromosome 9q21.2-q21.3. J. Hum. Genet. 45: 188-191, 2000.
[0022531]13119.Ozaki, T.; Hishiki, T.; Toyama, Y.; Yuasa, S.; Nakagawara, A.; Sakiyama, S.: Identification of a new cellular protein that can interact specifically with DAN. DNA Cell Biol. 16: 985-991, 1997.
[0022532]13120.Dammann, R.; Li, C.; Yoon, J.-H.; Chin, P. L.; Bates, S.; Pfeifer, G. P.: Epigenetic inactivation of a RAS association domain family protein from the lung tumour suppressor locus 3p21.3. Nature Genet. 25: 315-319, 2000.
[0022533]13121.Dreijerink, K.; Braga, E.; Kuzmin, I.; Geil, L.; Duh, F.-M.; Angeloni, D.; Zbar, B.; Lerman, M. I.; Stanbridge, E. J.; Minna, J. D.; Protopopov, A.; Li, J.; Kashuba, V.; Klein, G.; Zabarovsky, E. R.: The candidate tumor suppressor gene, RASSF1A, from human chromosome 3p21.3 is involved in kidney tumorigenesis. Proc. Nat. Acad. Sci. 98: 7504-7509, 2001.
[0022534]13122.Harada, K.; Toyooka, S.; Maitra, A.; Maruyama, R.; Toyooka, K. O.; Timmons, C. F.; Tomlinson, G. E.; Mastrangelo, D.; Hay, R. J.; Minna, J. D.; Gazdar, A. F.: Aberrant promoter methylation and silencing of the RASSF1A gene in pediatric tumors and cell lines. Oncogene 21: 4345-4349, 2002.
[0022535]13123.Sekido, Y.; Ahmadian, M.; Wistuba, I. I.; Latif, F.; Bader, S.; Wei, M.-H.; Duh, F.-M.; Gazdar, A. F.; Lerman, M. I.; Minna, J. D. : Cloning of a breast cancer homozygous deletion junction narrows the region of search for a 3p21.3 tumor suppressor gene. Oncogene 16: 3151-3157, 1998.
[0022536]13124.Dann, C. E.; Hsieh, J.-C.; Rattner, A.; Sharma, D.; Nathans, J.; Leahy, D. J.: Insights into Wnt binding and signalling from the structures of two Frizzled cysteine-rich domains. Nature 412: 86-90, 2001.
[0022537]13125.Schumann, H.; Holtz, J.; Zerkowski, H.-R.; Hatzfeld, M.: Expression of secreted frizzled related proteins 3 and 4 in human ventricular myocardium correlates with apoptosis related gene expression. Cardiovasc. Res. 45: 720-728, 2000.
[0022538]13126.Bouchon, A.; Dietrich, J.; Colonna, M.: Cutting edge: inflammatory responses can be triggered by TREM-1, a novel receptor expressed on neutrophils and monocytes. J. Immun. 164: 4991-4995, 2000.
[0022539]13127.Bouchon, A.; Hernandez-Munain, C.; Cella, M.; Colonna, M.: A DAP12-mediated pathway regulates expression of CC chemokine receptor 7 and maturation of human dendritic cells. J. Exp. Med. 194: 1111-1122, 2001.
[0022540]13128.Campbell, K. S.; Colonna, M.: DAP12: a key accessory protein for relaying signals by natural killer cell receptors. Int. J. Biochem. Cell Biol. 31: 631-636, 1999.
[0022541]13129.Lanier, L. L.; Bakker, A. B. H.: The ITAM-bearing transmembrane adaptor DAP12 in lymphoid and myeloid cell function. Immun. Today 21: 611-614, 2000.
[0022542]13130.Benghezal, M.; Benachour, A.; Rusconi, S.; Aebi, M.; Conzelmann, A.: Yeast Gpi8p is essential for GPI anchor attachment onto proteins. EMBO J. 15: 6575-6583, 1996.
[0022543]13131.Yu, J.; Nagarajan, S.; Knez, J. J.; Udenfriend, S.; Chen, R.; Medof, M. E.: The affected gene underlying the class K glycosylphosphatidylinositol (GPI) surface protein defect codes for the GPI transamidase. Proc. Nat. Acad. Sci. 94: 12580-12585, 1997.
[0022544]13132.Walowsky, C.; Fitzhugh, D. J.; Castano, I. B.; Ju, J. Y.; Levin, N. A.; Christman, M. F.: The topoisomerase-related function gene TRF4 affects cellular sensitivity to the antitumor agent camptothecin. J. Biol. Chem. 274: 7302-7308, 1999.
[0022545]13133.Wang, Z.; Castano, I. B.; De Las Penas, A.; Adams, C.; Christman, M. F.: Pol kappa: a DNA polymerase required for sister chromatid cohesion. Science 289: 774-779, 2000.
[0022546]13134.Clark, J.; Lu, Y.-J.; Sidhar, S. K.; Parker, C.; Gill, S.; Smedley, D.; Hamoudi, R.; Linehan, W. M.; Shipley, J.; Cooper, C. S.: Fusion of splicing factor genes PSF and NonO (p54-nrb) to the TFE3 gene in papillary renal cell carcinoma. Oncogene 15: 2233-2239, 1997.
[0022547]13135.Patton, J. G.; Porro, E. B.; Galceran, J.; Tempst, P.; Nadal-Ginard, B.: Cloning and characterization of PSF, a novel pre-mRNA splicing factor. Genes Dev. 7: 393-406, 1993.
[0022548]13136.Augood, S. J.; Penney, J. B., Jr.; Friberg, I. K.; Breakefield, X. O.; Young, A. B.; Ozelius, L. J.; Standaert, D. G.: Expression of the early-onset torsion dystonia gene (DYT1) in human brain. Ann. Neurol. 43: 669-673, 1998.
[0022549]13137.Hewett, J.; Gonzalez-Agosti, C.; Slater, D.; Ziefer, P.; Li, S.; Bergeron, D.; Jacoby, D. J.; Ozelius, L. J.; Ramesh, V.; Breakefield, X. O.: Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells. Hum. Molec. Genet. 9: 1403-1413, 2000.
[0022550]13138.Piquemal, D.; Joulia, D.; Balaguer, P.; Basset, A.; Marti, J.; Commes, T.: Differential expression of the RTP/Drg1/Ndr1 gene product in proliferating and growth arrested cells. Biochim. Biophys. Acta 1450: 364-373, 1999.
[0022551]13139.LeClerc, S.; Palaniswami, R.; Xie, B.; Govdan, M. V.: Molecular cloning and characterization of a factor that binds the human glucocorticoid receptor gene and represses its expression. J. Biol. Chem. 266: 17333-17340, 1991.
[0022552]13140.Tikoo, A.; Czekay, S.; Viars, C.; White, S.; Heath, J. K.; Arden, K.; Maruta, H.: p190-A, a human tumor suppressor gene, maps to the chromosomal region 19q13.3 that is reportedly deleted in some gliomas. Gene 257: 23-31, 2000.
[0022553]13141.Wang, A. H.; Bertos, N. R.; Vezmar, M.; Pelletier, N.; Crosato, M.; Heng, H. H.; Th'ng, J.; Han, J.; Yang, X.-J.: HDAC4, a human histone deacetylase related to yeast HDA1, is a transcriptional corepressor. Molec. Cell. Biol. 19: 7816-7827, 1999.
[0022554]13142.Lewin, A. R.; Reid, L. E.; McMahon, M.; Stark, G. R.; Kerr, I. M.: Molecular analysis of a human interferon-inducible gene family. Europ. J. Biochem. 199: 417-423, 1991.
[0022555]13143.Orimo, A.; Yamagishi, T.; Tominaga, N.; Yamauchi, Y.; Hishinuma, T.; Okada, K.; Suzuki, M.; Sato, M.; Nogi, Y.; Suzuki, H.; Inoue, S.; Yoshimura, K.; Shimizu, Y.; Muramatsu, M.: Molecular cloning of testis-abundant finger protein/ring finger protein 23 (RNF23), a novel RING-B boxcoiled coil-B30.2 protein on the class I region of the human MHC. Biochem. Biophys. Res. Commun. 276: 45-51, 2000.
[0022556]13144.Nishimura, Y.; Hayashi, M.; Inada, H.; Tanaka, T.: Molecular cloning and characterization of mammalian homologues of vesicle-associated membrane protein-associated (VAMPassociated) proteins. Biochem. Biophys. Res. Commun. 254: 21-26, 1999.
[0022557]13145.Weir, M. L.; Klip, A.; Trimble, W. S.: Identification of a human homologue of the vesicle-associated membrane protein (VAMP)-associated protein of 33 kDa (VAP-33): a broadly expressed protein that binds to VAMP. Biochem. J. 333: 247-251, 1998.
[0022558]13146.Bahr, C.; Rohwer, A.; Stempka, L.; Rincke, G.; Marks, F.; Gschwendt, M.: DIK, a novel protein kinase that interacts with protein kinase C-delta: cloning, characterization, and gene analysis. J. Biol. Chem. 275: 36350-36357, 2000.
[0022559]13147.Chen, L.; Haider, K.; Ponda, M.; Cariappa, A.; Rowitch, D.; Pillai, S.: Protein kinase C-associated kinase (PKK), a novel membrane-associated, ankyrin repeat-containing protein kinase. J. Biol. Chem. 276: 21737-21744, 2001.
[0022560]13148.Zhou, Z.; Reed, R.: Human homologs of yeast Prp16 and Prp17 reveal conservation of the mechanism for catalytic step II of pre-mRNA splicing. EMBO J. 17: 2095-2106, 1998.
[0022561]13149.Gozani, O.; Feld, R.; Reed, R.: Evidence that sequence-independent binding of highly conserved U2 snRNP proteins upstream of the branch site is required for assembly of spliceosomal complex A. Genes Dev. 10: 233-243, 1996.
[0022562]13150.Perez Jurado, L. A.; Wang, Y.-K.; Francke, U.; Cruces, J.: TBL2, a novel transducin family member in the WBS deletion: characterization of the complete sequence, genomic structure, transcriptional variants and the mouse ortholog. Cytogenet. Cell Genet. 86: 277-284, 1999.
[0022563]13151.Bergo, M. O.; Leung, G. K.; Ambroziak, P.; Otto, J. C.; Casey, P. J.; Gomes, A. Q.; Seabra, M. C.; Young, S. G.: Isoprenylcysteine carboxyl methyltransferase deficiency in mice. J. Biol. Chem. 276: 841-5845, 2001.
[0022564]13152.Dai, Q.; Choy, E.; Chiu, V.; Romano, J.; Slivka, S. R.; Steitz, S. A.; Michaelis, S.; Philips, M. R.: Mammalian prenylcysteine carboxyl methyltransferase is in the endoplasmic reticulum. J. Biol. Chem. 273: 15030-15034, 1998.
[0022565]13153.Desrosiers, R. R.; Nguyen, Q.-T.; Beliveau, R.: The carboxyl methyltransferase modifying G proteins is a metalloenzyme. Biochem. Biophys. Res. Commun. 261: 790-797, 1999.
[0022566]13154.Akhmanova, A.; Hoogenraad, C. C.; Drabek, K.; Stepanova, T.; Dortland, B.; Verkerk, T.; Vermeulen, W.; Burgering, B. M.; De Zeeuw, C. I.; Grosveld, F.; Galjart, N.: CLASPs are CLIP-115 and -170 associating proteins involved in the regional regulation of microtubule dynamics in motile fibroblasts. Cell 104: 923-935, 2001.
[0022567]13155.Cattanach, B. M.; Barr, J. A.; Beechey, C. V.; Martin, J.; Noebels, J.; Jones, J.: A candidate model for Angelman syndrome in the mouse. Mammalian Genome 8: 472-478, 1997.
[0022568]13156.Dhar, M.; Webb, L. S.; Smith, L.; Hauser, L.; Johnson, D.; West, D. B.: A novel ATPase on mouse chromosome 7 is a candidate gene for increased body fat. Physiol. Genomics 4: 93-100, 2000.
[0022569]13157.Halleck, M. S.; Lawler, J. F., Jr.; Blackshaw, S.; Gao, L.; Nagarajan, P.; Hacker, C.; Pyle, S.; Newman, J. T.; Nakanishi, Y.; Ando, H.; Weinstock, D.; Williamson, P.; Schlegel, R. A.: Differential expression of putative transbilayer amphipath transporters. Physiol. Genomics 1: 139-150, 1999.
[0022570]13158.Otsuki, T.; Kajigaya, S.; Ozawa, K.; Liu, J. M.: SNX5, a new member of the sorting nexin family, binds to the Fanconi anemia complementation group A protein. Biochem. Biophys. Res. Commun. 265: 630-635, 1999.
[0022571]13159.Choi, D.-K.; Suzuki, Y.; Yoshimura, S.; Togashi, T.; Hida, M.; Taylor, T. D.; Wang, Y.; Sugano, S.; Hattori, M.; Sakaki, Y.: Molecular cloning and characterization of a gene expressed in mouse developing tongue, mDscr5 gene, a homolog of human DSCR5 (Down syndrome critical region gene 5). Mammalian Genome 12: 347-351, 2001.
[0022572]13160.Shibuya, K.; Kudoh, J.; Minoshima, S.; Kawasaki, K.; Asakawa, S.; Shimizu, N.: Isolation of two novel genes, DSCR5 and DSCR6, from Down syndrome critical region on human chromosome 21q22.2. Biochem. Biophys. Res. Commun. 271: 693-698, 2000.
[0022573]13161.Togashi, T.; Choi, D.-K.; Taylor, T. D.; Suzuki, Y.; Sugano, S.; Hattori, M.; Sakaki, Y.: A novel gene, DSCR5, from the distal Down syndrome critical region on chromosome 21q22.2. DNA Res. 7: 207-212, 2000.
[0022574]13162.Nakao, M.; Shichijo, S.; Imaizumi, T.; Inoue, Y.; Matsunaga, K.; Yamada, A.; Kikuchi, M.; Tsuda, N.; Ohta, K.; Takamori, S.; Yamana, H.; Fujita, H.; Itoh, K.: Identification of a gene coding for a new squamous cell carcinoma antigen recognized by the CTL. J. Immun. 164: 2565-2574, 2000.
[0022575]13163.Loftus, B. J.; Kim, U.-J.; Sneddon, V. P.; Kalush, F.; Brandon, R.; Fuhrmann, J.; Mason, T.; Crosby, M. L.; Barnstead, M.; Cronin, L.; Mays, A. D.; Cao, Y.; Xu, R. X.; Kang, H.-L.; Mitchell, S.; Eichler, E. E.; Harris, P. C.; Venter, J. C.; Adams, M. D.: Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. Genomics 60: 295-308, 1999.
[0022576]13164.Brauner-Osborne, H.; Krogsgaard-Larsen, P.: Sequence and expression pattern of a novel human orphan G-protein-coupled receptor, GPRC5B, a family C receptor with a short aminoterminal domain. Genomics 65: 121-128, 2000.
[0022577]13165.Robbins, M. J.; Michalovich, D.; Hill, J.; Calver, A. R.; Medhurst, A. D.; Gloger, I.; Sims, M.; Middlemiss, D. N.; Pangalos, M. N.: Molecular cloning and characterization of two novel retinoic acid-inducible orphan G-protein-coupled receptors (GPRC5B and GPRC5C). Genomics 67: 8-18, 2000.
[0022578]13166.Autieri, M. V.; Feuerstein, G. Z.; Yue, T.-L.; Ohlstein, E. H.; Douglas, S. A.: Use of differential display to identify differentially expressed mRNAs induced by rat carotid artery balloon angioplasty. Lab. Invest. 72: 656-661, 1995.
[0022579]13167.Autieri, M. V.; Haines, D. S.; Romanic, A. M.; Ohlstein, E. H. : Expression of 14-3-3-gamma in injured arteries and growth factor- and cytokine-stimulated human vascular smooth muscle cells. Cell Growth Diff. 7: 1453-1460, 1996.
[0022580]13168.Horie, M.; Suzuki, M.; Takahashi, E.; Tanigami, A.: Cloning, expression, and chromosomal mapping of the human 14-3-3gamma gene (YWHAG) to 7q11.23. Genomics 60: 241-243, 1999.
[0022581]13169.Morrison, D.: 14-3-3: modulators of signaling proteins? Science 266: 56-57, 1994.
[0022582]13170.Asada, H.; Kawamura, Y.; Maruyama, K.; Kume, H.; Ding, R.-G.; Kanbara, N.; Kuzume, H.; Sanbo, M.; Yagi, T.; Obata, K.: Cleft palate and decreased brain gamma-aminobutyric acid in mice lacking the 67-kDa isoform of glutamic acid decarboxylase. Proc. Nat. Acad. Sci. 94: 6496-6499, 1997.
[0022583]13171.Brilliant, M. H.; Szabo, G.; Katarova, Z.; Kozak, C. A.; Glaser, T. M.; Greenspan, R. J.; Housman, D. E.: Sequences homologous to glutamic acid decarboxylase cDNA are present on mouse chromosomes 2 and 10. Genomics 6: 115-122, 1990.
[0022584]13172.Bu, D.-F.; Tobin, A. J.: The exon-intron organization of the genes (GAD1 and GAD2) encoding two human glutamate decarboxylases (GAD-67 and GAD-65) suggests that they derive from a common ancestral GAD. Genomics 21: 222-228, 1994.
[0022585]13173.Condie, B. G.; Bain, G.; Gottlieb, D. I.; Capecchi, M. R.: Cleft palate in mice with a targeted mutation in the gamma-aminobutyric acid-producing enzyme glutamic acid decarboxylase 67. Proc. Nat. Acad. Sci. 94: 11451-11455, 1997.
[0022586]13174.Erlander, M. G.; Tillakaratne, N. J. K.; Feldblum, S.; Patel, N.; Tobin, A. J.: Two genes encode distinct glutamate decarboxylases. Neuron 7: 91-100, 1991.
[0022587]13175.Kelly, C. D.; Edwards, Y.; Johnstone, A. P.; Harfst, E.; Nogradi, A.; Nussey, S. S.; Povey, S.; Carter, N. D.: Nucleotide sequence and chromosomal assignment of a cDNA encoding the large isoform of human glutamate decarboxylase. Ann. Hum. Genet. 56: 255-265, 1992.
[0022588]13176.Krishnamoorthy, K. S.: Pyridoxine-dependency seizure: report of a rare presentation. Ann. Neurol. 13: 103-104, 1983.
[0022589]13177.Sparkes, R. S.; Kaufman, D. L.; Heinzmann, C.; Tobin, A. J.; Mohandas, T.: Brain glutamate decarboxylase (GAD) gene assigned to human chromosome 2 by somatic cell hybrid analysis. (Abstract) Cytogenet. Cell Genet. 46: 696 only, 1987.
[0022590]13178.Scott, A. F.: Personal Communication. Baltimore, Md. 1/22/2001.
[0022591]13179.Zhu, H.; Kavsak, P.; Abdollah, S.; Wrana, J. L.; Thomsen, G. H. : A SMAD ubiquitin ligase targets the BMP pathway and affects embryonic pattern formation. Nature 400: 687-693, 1999.
[0022592]13180.Drivas, G. T.; Shih, A.; Coutavas, E. E.; D'Eustachio, P.; Rush, M. G.: Identification and characterization of a human homolog of the Schizosaccharomyces pombe ras-like gene YPT-3. Oncogene 6: 3-9, 1991.
[0022593]13181.Gromov, P. S.; Celis, J. E.; Hansen, C.; Tommerup, N.; Gromova, I.; Madsen, P.; Human rab11a: transcription, chromosome mapping and effect on the expression levels of host GTPbinding proteins. FEBS Lett. 429: 359-364, 1998.
[0022594]13182.Kedra, D.; Seroussi, E.; Fransson, I.; Trifunovic, J.; Clark, M.; Lagercrantz, J.; Blennow, E.; Mehlin, H.; Dumanski, J.: The germinal center kinase gene and a novel CDC25-like gene are located in the vicinity of the PYGM gene on 11q13. Hum. Genet. 100: 611-619, 1997.
[0022595]13183.Yao, Z.; Spriggs, M. K.; Derry, J. M. J.; Strockbine, L.; Park, L. S.; VandenBos, T.; Zappone, J.; Painter, S. L.; Armitage, R. J. : Molecular characterization of the human interleukin (IL)-17 receptor. Cytokine 9: 794-800, 1997.
[0022596]13184.Hogue, D. L.; Liu, L.; Ling, V.: Identification and characterization of a mammalian mitochondrial ATP-binding cassette membrane protein. J. Molec. Biol. 285: 379-389, 1999.
[0022597]13185.Liang, H.; Guo, W.; Nagarajan, L.: Chromosomal mapping and genomic organization of an evolutionarily conserved zinc finger gene ZNF277. Genomics 66: 226-228, 2000.
[0022598]13186.Ichigotani, Y.; Matsuda, S.; Machida, K.; Oshima, K.; Iwamoto, T.; Yamaki, K.; Hayakawa, T.; Hamaguchi, M.: Molecular cloning of a novel human gene (SIRP-B2) which encodes a new member of the SIRP/SHPS-1 protein family. J. Hum. Genet. 45: 378-382, 2000.
[0022599]13187.Hirsch, D. S.; Pirone, D. M.; Burbelo, P. D.: A new family of Cdc42 effector proteins, CEPs, function in fibroblast and epithelial cell shape changes. J. Biol. Chem. 276: 875-883, 2001.
[0022600]13188.Joberty, G.; Perlungher, R. R.; Macara, I. G.: The Borgs, a new family of Cdc42 and TC10 GTPase-interacting proteins. Molec. Cell. Biol. 19: 6585-6597, 1999.
[0022601]13189.Yang, Z.-Q.; Imoto, I.; Fukuda, Y.; Pimkhaokham, A.; Shimada, Y.; Imamura, M.; Sugano, S.; Nakamura, Y.; Inazawa, J.: Identification of a novel gene, GASC1, within an amplicon at 9p23-24 frequently detected in esophageal cancer cell lines. Cancer Res. 60: 4735-4739, 2000.
[0022602]13190.Cheung, P. C. F.; Trinkle-Mulcahy, L.; Cohen, P.; Lucocq, J. M. : Characterization of a novel phosphatidylinositol 3-phosphate-binding protein containing two FYVE fingers in tandem that is targeted to the Golgi. Biochem. J. 355: 113-121, 2001.
[0022603]13191.Derubeis, A. R.; Young, M. F.; Jia, L.; Robey, P. G.; Fisher, L. W.: Double FYVEcontaining protein 1 (DFCP1): isolation, cloning and characterization of a novel FYVE finger protein from a human bone marrow cDNA library. Gene 255: 195-203, 2000.
[0022604]13192.Doyle, J. L.; DeSilva, U.; Miller, W.; Green, E. D.: Divergent human and mouse orthologs of a novel gene (WBSCR15/Wbscr15) reside within the genomic interval commonly deleted in Williams syndrome. Cytogenet. Cell Genet. 90: 285-290, 2000.
[0022605]13193.Lesage, F.; Maingret, F.; Lazdunski, M.: Cloning and expression of human TRAAK, a polyunsaturated fatty acids-activated and mechano-sensitive K+ channel. FEBS Lett. 471: 137-140, 2000.
[0022606]13194.Liu, Y.; McKenna, E.; Figueroa, D. J.; Blevins, R.; Austin, C. P.; Bennett, P. B.; Swanson, R.: The human inward rectifier K+ channel subunit Kir5.1 (KCNJ16) maps to chromosome 17q25 and is expressed in kidney and pancreas. Cytogenet. Cell Genet. 90: 60-63, 2000.
[0022607]13195.Nishimura, D. Y.; Searby, C. C.; Carmi, R.; Elbedour, K.; Van Maldergem, L.; Fulton, A. B.; Lam, B. L.; Powell, B. R.; Swiderski, R. E.; Bugge, K. E.; Haider, N. B.; Kwitek-Black, A. E.; Ying, L.; Duhl, D. M.; Gorman, S. W.; Heon, E.; Iannaccone, A.; Bonneau, D.; Biesecker, L. G.; Jacobson, S. G.; Stone, E. M.; Sheffield, V. C.: Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). Hum. Molec. Genet. 10: 865-874, 2001.
[0022608]13196.LeCouter, J.; Kowalski, J.; Foster, J.; Hass, P.; Zhang, Z.; Dillard-Telm, L.; Frantz, G.; Rangell, L.; DeGuzman, L.; Keller, G.-A.; Peale, F.; Gurney, P.; Hillan, K. J.; Ferrara, N.: Identification of an angiogenic mitogen selective for endocrine gland endothelium. Nature 412: 877-884, 2001.
[0022609]13197.Li, M.; Bullock, C. M.; Knauer, D. J.; Ehlert, F. J.; Zhou, Q. Y.: Identification of two prokineticin cDNAs: recombinant proteins potently contract gastrointestinal smooth muscle. Molec. Pharm. 59: 692-698, 2001.
[0022610]13198.Nagase, T.; Nakayama, M.; Nakajima, D.; Kikuno, R.; Ohara, O.: Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. DNA Res. 8: 85-95, 2001.
[0022611]13199.Telford, E. A. R.; Moynihan, L. M.; Markham, A. F.; Lench, N. J. : Isolation and characterisation of a cDNA encoding the precursor for a novel member of the acyl-CoA dehydrogenase gene family. Biochim. Biophys. Acta 1446: 371-376, 1999.
[0022612]13200.Cerretti, D. P.; DuBose, R. F.; Black, R. A.; Nelson, N.: Isolation of two novel metalloproteinase-disintegrin (ADAM) cDNAs that show testis-specific gene expression. Biochem. Biophys. Res. Commun. 263: 810-815, 1999.
[0022613]13201.Xu, R.; Cai, J.; Xu, T.; Zhou, W.; Ying, B.; Deng, K.; Zhao, S.; Li, C.: Molecular cloning and mapping of a novel ADAM gene (ADAM29) to human chromosome 4. Genomics 62: 537-539, 1999.
[0022614]13202.Jacobs, S.; Schilf, C.; Fliegert, F.; Koling, S.; Weber, Y.; Schurmann, A.; Joost, H.-G.: ADP-ribosylation factor (ARF)-like 4, 6, and 7 represent a subgroup of the ARF family characterized by rapid nucleotide exchange and a nuclear localization signal. FEBS Lett. 456: 384-388, 1999.
[0022615]13203.Inoue, S.; Inoue, K.; Utsunomiya, M.; Nozaki, J.; Yamada, Y.; Iwasa, T.; Mori, E.; Yoshinaga, T.; Koizumi, A.: Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients. Hum. Mutat. 19: 622-628, 2002.
[0022616]13204.Kim, K.; Drummond, I.; Ibraghimov-Beskrovnaya, O.; Klinger, K.; Arnaout, M. A.: Polycystin 1 is required for the structural integrity of blood vessels. Proc. Nat. Acad. Sci. 97: 1731-1736, 2000.
[0022617]13205.Koptides, M.; Deltas, C. C.: Autosomal dominant polycystic kidney disease: molecular genetics and molecular pathogenesis. Hum. Genet. 107: 115-126, 2000.
[0022618]13206.Lohning, C.; Nowicka, U.; Frischauf, A.-M.: The mouse homolog of PKD1: sequence analysis and alternative splicing. Mammalian Genome 8: 307-311, 1997.
[0022619]13207.Lu, W.; Peissel, B.; Babakhanlou, H.; Pavlova, A.; Geng, L.; Fan, X.; Larson, C.; Brent, G.; Zhou, J.: Perinatal lethality with kidney and pancreas defects in mice with a targetted Pkd1 mutation. Nature Genet. 17: 179-181, 1997.
[0022620]13208.Lu, W.; Shen, X.; Pavlova, A.; Lakkis, M.; Ward, C. J.; Pritchard, L.; Harris, P. C.; Genest, D. R.; Perez-Atayde, A. R.; Zhou, J.: Comparison of Pkd1-targeted mutants reveals that loss of polycystin-1 causes cystogenesis and bone defects. Hum. Molec. Genet. 10: 2385-2396, 2001.
[0022621]13209.McCluskey, M.; Schiavello, T.; Hunter, M.; Hantke, J.; Angelicheva, D.; Bogdanova, N.; Markoff, A.; Thomas, M.; Dworniczak, B.; Horst, J.; Kalaydjieva, L.: Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families. Hum. Mutat. 19: 240-250, 2002.
[0022622]13210.Murti, J. R.; Bumbulis, M.; Schimenti, J. C.: Gene conversion between unlinked sequences in the germline of mice. Genetics 137: 837-843, 1994.
[0022623]13211.Neophytou, P.; Constantinides, R.; Lazarou, A.; Pierides, A.; Constantinou Deltas, C.: Detection of a novel nonsense mutation and an intragenic polymorphism in the PKD1 gene of a Cypriot family with autosomal dominant polycystic kidney disease. Hum. Genet. 98: 437-442, 1996.
[0022624]13212.Olsson, P. G.; Lohning, C.; Horsley, S.; Kearney, L.; Harris, P. C.; Frischauf, A.-M.: The mouse homologue of the polycystic kidney disease gene (Pkd1) is a single-copy gene. Genomics 34: 233-235, 1996.
[0022625]13213.Peral, B.; Gamble, V.; Strong, C.; Ong, A. C. M.; Sloane-Stanley, J.; Zerres, K.; Winearls, C. G.; Harris, P. C.: Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach. Am. J. Hum. Genet. 60: 1399-1410, 1997.
[0022626]13214.Perrichot, R. A.; Mercier, B.; Simon, P. M.; Whebe, B.; Cledes, J.; Ferec, C.: DGGE screening of PKD1 gene reveals novel mutations in a large cohort of 146 unrelated patients. Hum. Genet. 105: 231-239, 1999.
[0022627]13215.Pritchard, L.; Sloane-Stanley, J. A.; Sharpe, J. A.; Aspinwall, R.; Lu, W.; Buckle, V.; Strmecki, L.; Walker, D.; Ward, C. J.; Alpers, C. E.; Zhou, J.; Wood, W. G.; Harris, P. C.: A human PKD1 transgene generates functional polycystin-1 in mice and is associated with a cystic phenotype. Hum. Molec. Genet. 9: 2617-2627, 2000.
[0022628]13216.Lako, M.; Lindsay, S.; Bullen, P.; Wilson, D. I.; Robson, S. C.; Strachan, T.: A novel mammalian Wnt gene, WNT8B, shows brain-restricted expression in early development, with sharply delimited expression boundaries in the developing forebrain. Hum. Molec. Genet. 7: 813-822, 1998.
[0022629]13217.Lako, M.; Strachan, T.; Curtis, A. R. J.; Lindsay, S.: Isolation and characterization of WNT8B, a novel human Wnt gene that maps to 10q24. Genomics 35: 386-388, 1996.
[0022630]13218.Tsubata, S.; Bowles, K. R.; Vatta, M.; Zintz, C.; Titus, J.; Muhonen, L.; Bowles, N. E.; Towbin, J. A.: Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. J. Clin. Invest. 106: 655-662, 2000.
[0022631]13219.Toda, T.; Iida, A.; Miwa, T.; Nakamura, Y.; Imai, T.: Isolation and characterization of a novel gene encoding nuclear protein at a locus (D11S636) tightly linked to multiple endocrine neoplasia type 1 (MEN1). Hum. Molec. Genet. 3: 465-470, 1994.
[0022632]13220.Nusse, R.; Varmus, H. E.: Many tumors induced by the mouse mammary tumor virus contain a provirus integrated in the same region of the host genome. Cell 31: 99-109, 1982.
[0022633]13221.Guymer, R. H.; Heon, E.; Lotery, A. J.; Munier, F. L.; Schorderet, D. F.; Baird, P. N.; McNeil, R. J.; Haines, H.; Sheffield, V. C.; Stone, E. M.: Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration. Arch. Ophthal. 119: 745-751, 2001.
[0022634]13222.Paoloni-Giacobino, A.; Chen, H.; Antonarakis, S. E.: Cloning of a novel human neural cell adhesion molecule gene (NCAM2) that maps to chromosome region 21q21 and is potentially involved in Down syndrome. Genomics 43: 43-51, 1997.
[0022635]13223.Abdulkadir, S. A.; Magee, J. A.; Peters, T. J.; Kaleem, Z.; Naughton, C. K.; Humphrey, P. A.; Milbrandt, J.: Conditional loss of Nkx3.1 in adult mice induces prostatic intraepithelial neoplasia. Molec. Cell. Biol. 22: 1495-1503, 2002.
[0022636]13224.Bieberich, C. J.; Fujita, K.; He, W. W.; Jay, G.: Prostate-specific and androgendependent expression of a novel homeobox gene. J. Biol. Chem. 271: 31779-31782, 1996.
[0022637]13225.Korkmaz, K. S.; Korkmaz, C. G; Ragnhildstveit, E.; Kizildag, S.; Pretlow, T. G.; Saatcioglu, F.: Full-length cDNA sequence and genomic organization of human NKX3A--alternative forms and regulation by both androgens and estrogens. Gene 260: 25-36, 2000.
[0022638]13226.He, W. W.; Sciavolino, P. J.; Wing, J.; Augustus, M.; Hudson, P.; Meissner, P. S.; Curtis, R. T.; Shell, B. K.; Bostwick, D. G.; Tindall, D. J.; Gelmann, E. P.; Abate-Shen, C.; Carter, K. C.: A novel human prostate-specific, androgen-regulated homeobox gene (NKX3.1) that maps to 8p21, a region frequently deleted in prostate cancer. Genomics 43: 69-77, 1997.
[0022639]13227.Gould, S.: Personal Communication. Baltimore, Md. 9/26/1997.
[0022640]13228.Jansen, G. A.; Hogenhout, E. M.; Ferdinandusse, S.; Waterham, H. R.; Ofman, R.; Jakobs, C.; Skjeldal, O. H.; Wanders, R. J. A.: Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease. Hum. Molec. Genet. 9: 1195-1200, 2000.
[0022641]13229.Mukherji, M.; Chien, W.; Kershaw, N. J.; Clifton, I. J.; Schofield, C. J.; Wierzbicki, A. S.; Lloyd, M. D.: Structure-function analysis of phytanoyl-CoA 2-hydroxylase mutations causing Refsum's disease. Hum. Molec. Genet. 10: 1971-1982, 2001.
[0022642]13230.Skjeldal, O. H.; Stokke, O.; Refsum, S.; Norseth, J.; Petit, H. : Clinical and biochemical heterogeneity in conditions with phytanic acid accumulation. J. Neurol. Sci. 77: 87-96, 1987.
[0022643]13231.Jansen, G. A.; Mihalik, S. J.; Watkins, P. A.; Moser, H. W.; Jakobs, C.; Denis, S.; Wanders, R. J. A.: Phytanoyl-CoA hydroxylase is present in human liver, located in peroxisomes, and deficient in Zellweger syndrome: direct, unequivocal evidence for the new, revised pathway of phytanic acid alpha-oxidation in humans. Biochem. Biophys. Res. Commun. 229: 205-210, 1996.
[0022644]13232.Bilaud, T.; Brun, C.; Ancelin, K.; Koering, C. E.; Laroche, T.; Gilson, E.: Telomeric localization of TRF2, a novel human telobox protein. Nature Genet. 17: 236-239, 1997.
[0022645]13233.Broccoli, D.; Smogorzewska, A.; Chong, L.; de Lange, T.: Human telomeres contain two distinct Myb-related proteins, TRF1 and TRF2. Nature Genet. 17: 231-235, 1997.
[0022646]13234.Karlseder, J.; Smogorzewska, A.; de Lange, T.: Senescence induced by altered telomere state, not telomere loss. Science 295: 2446-2449, 2002.
[0022647]13235.Sakaguchi, A. Y.; Padalecki, S. S.; Mattern, V.; Rodriguez, A.; Leach, R. J.; McGill, J. R.; Chavez, M.; Giambernardi, T. A.: Chromosomal sublocalization of the transcribed human telomere repeat binding factor 2 gene and comparative mapping in the mouse. Somat. Cell Molec. Genet. 24: 157-163, 1998.
[0022648]13236.van Steensel, B.; Smogorzewska, A.; de Lange, T.: TRF2 protects human telomeres from end-to-end fusions. Cell 92: 401-413, 1998.
[0022649]13237.Cancel, G.; Durr, A.; Didierjean, O.; Imbert, G.; Burk, K.; Lezin, A.; Belal, S.; Benomar, A.; Abada-Bendib, M.; Vial, C.; Guimaraes, J.; Chneiweiss, H.; and 12 others: Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families. Hum. Molec. Genet. 6: 709-715, 1997.
[0022650]13238.Choudhry, S.; Mukerji, M.; Srivastava, A. K.; Jain, S.; Brahmachari, S. K.: CAG repeat instability at SCA2 locus: anchoring CAA interruptions and linked single nucleotide polymorphisms. Hum. Molec. Genet. 10: 2437-2446, 2001.
[0022651]13239.Huynh, D. P.; Del Bigio, M. R.; Ho, D. H.; Pulst, S. M.: Expression of ataxin-2 in brains from normal individuals and patients with Alzheimer's disase and spinocerebellar ataxia 2. Ann. Neurol. 45: 232-241, 1999.
[0022652]13240.Nechiporuk, T.; Huynh, D. P.; Figueroa, K.; Sahba, S.; Nechiporuk, A.; Pulst, S.-M.: The mouse SCA2 gene: cDNA sequence, alternative splicing and protein expression. Hum. Molec. Genet. 7: 1301-1309, 1998.
[0022653]13241.Sahba, S.; Nechiporuk, A.; Figueroa, K. P.; Nechiporuk, T.; Pulst, S.-M.: Genomic structure of the human gene for spinocerebellar ataxia type 2 (SCA2) on chromosome 12q24.1. Genomics 47: 359-364, 1998.
[0022654]13242.Shibata, H.; Huynh, D. P.; Pulst, S.-M.: A novel protein with RNA-binding motifs interacts with ataxin-2. Hum. Molec. Genet. 9: 1303-1313, 2000.
[0022655]13243.Parr, B. A.; McMahon, A. P.: Sexually dimorphic development of the mammalian reproductive tract requires Wnt-7a. Nature 395: 707-710, 1998.
[0022656]13244.Barron-Casella, E. A.; Torres, M. A.; Scherer, S. W.; Heng, H. H. Q.; Tsui, L.-C.; Casella, J. F.: Sequence analysis and chromosomal localization of human Cap Z: conserved residues within the actin-binding domain may link Cap Z to gelsolin/severin and profilin protein families. J. Biol. Chem. 270: 21472-21479, 1995.
[0022657]13245.Hart, M. C.; Korshunova, Y. O.; Cooper, J. A.: Mapping of the mouse actin capping protein alpha subunit genes and pseudogenes. Genomics 39: 264-270, 1997.
[0022658]13246.Cooper, J. A.: Personal Communication. St. Louis, Mo. 3/8/1999.
[0022659]13247.Cardoso, C.; Mignon, C.; Hetet, G.; Grandchamps, B.; Fontes, M.; Colleaux, L.: The human EZH2 gene: genomic organisation and revised mapping in 7q35 within the critical region for malignant myeloid disorders. Europ. J. Hum. Genet. 8: 174-180, 2000.
[0022660]13248.Chen, H.; Rossier, C.; Antonarakis, S. E.: Cloning of a human homolog of the Drosophila enhancer of zeste gene (EZH2) that maps to chromosome 21q22.2. Genomics 38: 30-37, 1996.
[0022661]13249.Dohner, K.; Brown, J.; Hehmann, U.; Hetzel, C.; Stewart, J.; Lowther, G.; Scholl, C.; Frohling, S.; Cuneo, A.; Tsui, L. C.; Lichter, P.; Scherer, S. W.; Dohner, H.: Molecular cytogenetic characterization of a critical region in bands 7q35-q36 commonly deleted in malignant myeloid disorders. Blood 92: 4031-4035, 1998.
[0022662]13250.Laible, G.; Haynes, A. R.; Lebersorger, A.; O'Carroll, D.; Mattei, M.-G.; Denny, P.; Brown, S. D. M.; Jenuwein, T.: The murine polycomb-group genes Ezh1 and Ezh2 map close to Hox gene clusters on mouse chromosomes 11 and 6. Mammalian Genome 10: 311-314, 1999.
[0022663]13251.Varambally, S.; Dhanasekaran, S. M.; Zhou, M.; Barrette, T. R.; Kumar-Sinha, C.; Sanda, M. G.; Ghosh, D.; Pienta, K. J.; Sewalt, R. G. A. B.; Otte, A. P.; Rubin, M. A.; Chinnaiyan, A. M.: The polycomb group protein EZH2 is involved in progression of prostate cancer. Nature 419: 624-629, 2002.
[0022664]13252.Batt, J.; Asa, S.; Fladd, C.; Rotin, D.: Pituitary, pancreatic and gut neuroendocrine defects in protein tyrosine phosphatase-sigma-deficient mice. Molec. Endocr. 16: 155-169, 2002.
[0022665]13253.Elchebly, M.; Wagner, J.; Kennedy, T. E.; Lanctot, C.; Michaliszyn, E.; Itie, A.; Drouin, J.; Tremblay, M. L.: Neuroendocrine dysplasia in mice lacking protein tyrosine phosphatase sigma. Nature Genet. 21: 330-333, 1999.
[0022666]13254.Pulido, R.; Serra-Pages, C.; Tang, M.; Streuli, M.: The LAR/PTP delta/PTP sigma subfamily of transmembrane protein-tyrosine-phosphatases: multiple human LAR, PTP delta, and PTP sigma isoforms are expressed in a tissue-specific manner and associate with the LAR-interacting protein LIP.1. Proc. Nat. Acad. Sci. 92: 11686-11690, 1995.
[0022667]13255.Wagner, J.; Gordon, L. A.; Heng, H. H. Q.; Tremblay, M. L.; Olsen, A. S.: Physical mapping of receptor type protein tyrosine phosphatase sigma (PTPRS) to human chromosome 19p13.3. Genomics 38: 76-78, 1996.
[0022668]13256.Wallace, M. J.; Batt, J.; Fladd, C. A.; Henderson, J. T.; Skarnes, W.; Rotin, D.: Neuronal defects and posterior pituitary hypoplasia in mice lacking the receptor tyrosine phosphatase PTP-sigma. Nature Genet. 21: 334-338, 1999.
[0022669]13257.Bates, S.; Rowan, S.; Vousden, K. H.: Characterisation of human cyclin G1 and G2: DNA damage inducible genes. Oncogene 13: 1103-1109, 1996.
[0022670]13258.Endo, Y.; Fujita, T.; Tamura, K.; Tsuruga, H.; Nojima, H.: Structure and chromosomal assignment of the human cyclin G gene. Genomics 38: 92-95, 1996.
[0022671]13259.Horne, M. C.; Goolsby, G. L.; Donaldson, K. L.; Tran, D.; Neubauer, M.; Wahl, A. F.: Cyclin G1 and cyclin G2 comprise a new family of cyclins with contrasting tissue-specific and cell cycleregulated expression. J. Biol. Chem. 271: 6050-6061, 1996.
[0022672]13260.Jensen, M. R.; Factor, V. M.; Zimonjic, D. B.; Miller, M. J.; Keck, C. L.; Thorgeirsson, S. S.: Chromosome localization and structure of the murine cyclin G1 gene promoter sequence. Genomics 45: 297-303, 1997.
[0022673]13261.Spicer, A. P.; Augustine, M. L.; McDonald, J. A.: Molecular cloning and characterization of a putative mouse hyaluronan synthase. J. Biol. Chem. 271: 23400-23406, 1996.
[0022674]13262.Skalhegg, B. S.; Huang, Y.; Su, T.; Idzerda, R. L.; McKnight, G. S.; Burton, K. A.: Mutation of the C-alpha subunit of PKA leads to growth retardation and sperm dysfunction. Molec. Endocr. 16: 630-639, 2002.
[0022675]13263.Tasken, K.; Solberg, R.; Zhao, Y.; Hansson, V.; Jahnsen, T.; Siciliano, M. J.: The gene encoding the catalytic subunit C-alpha of cAMP-dependent protein kinase (locus PRKACA) localizes to human chromosome region 19p13.1. Genomics 36: 535-538, 1996.
[0022676]13264.Kim, J.; Uyemura, K.; Van Dyke, M. K.; Legaspi, A. J.; Rea, T. H.; Shuai, K.; Modlin, R. L.: A role for IL-12 receptor expression and signal transduction in host defense in leprosy. J. Immun. 167: 779-786, 2001.
[0022677]13265.Morton, S. M.; Bocaccio, I.; Depetris, D.; Mattei, M.; Dessein, A.: Assignment of IL12RB2 to human chromosome 1p31.3-p31.2 between D1S230 and D1S198. Cytogenet. Cell Genet. 79: 282-283, 1997.
[0022678]13266.McCright, B.; Brothman, A. R.; Virshup, D. M.: Assignment of human protein phosphatase 2A regulatory subunit genes B56-alpha, B56-beta, B56-gamma, B56-delta, and B56-epsilon (PPP2R5A--PPP2R5E), highly expressed in muscle and brain, to chromosome regions 1q41, 11q12, 3p21, 6p21.1, and 7p11.2-to-p12. Genomics 36: 168-170, 1996.
[0022679]13267.McCright, B.; Virshup, D. M.: Identification of a new family of protein phosphatase 2A regulatory subunits. J. Biol. Chem. 270: 26123-26128, 1995.
[0022680]13268.Lewis, R. A.; Shroyer, N. F.; Singh, N.; Allikmets, R.; Hutchinson, A.; Li, Y.; Lupski, J. R.; Leppert, M.; Dean, M.: Genotype/phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. Am. J. Hum. Genet. 64: 422-434, 1999.
[0022681]13269.Martinez-Mir, A.; Bayes, M.; Vilageliu, L.; Grinberg, D.; Ayuso, C.; del Rio, T.; Garcia-Sandoval, B.; Bussaglia, E.; Baiget, M.; Gonzalez-Duarte, R.; Balcells, S.: A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21. Genomics 40: 142-146, 1997.
[0022682]13270.Martinez-Mir, A.; Paloma, E.; Allikmets, R.; Ayuso, C.; del Rio, T.; Dean, M.; Vilageliu, L.; Gonzalez-Duarte, R.; Balcells, S.: Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR. (Letter) Nature Genet. 18: 11-12, 1998.
[0022683]13271.Maugeri, A.; Klevering, B. J.; Rohrschneider, K.; Blankenagel, A.; Brunner, H. G.; Deutman, A. F.; Hoyng, C. B.; Cremers, F. P. M. : Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. Am. J. Hum. Genet. 67: 960-966, 2000.
[0022684]13272.Maugeri, A.; van Driel, M. A.; van de Pol, D. J. R.; Klevering, B. J.; van Haren, F. J. J.; Tijmes, N.; Bergen, A. A. B.; Rohrschneider, K.; Blankenagel, A.; Pinckers, A. J. L. G.; Dahl, N.; Brunner, H. G.; Deutman, A. F.; Hoyng, C. B.; Cremers, F. P. M.: The 2588G-C mutation in the ABCR gene is a mild frequent founder mutation in the western European population and allows the classification of ABCR mutations in patients with Stargardt disease. Am. J. Hum. Genet. 64: 1024-1035, 1999.
[0022685]13273.Molday, L. L.; Rabin, A. R.; Molday, R. S.: ABCR expression in foveal cone photoreceptors and its role in Stargardt macular dystrophy. Nature Genet. 25: 257-258, 2000.
[0022686]13274.Nasonkin, I.; Illing, M.; Koehler, M. R.; Schmid, M.; Molday, R. S.; Weber, B. H. F.: Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease. Hum. Genet. 102: 21-26, 1998.
[0022687]13275.Paloma, E.; Martinez-Mir, A.; Vilageliu, L.; Gonzalez-Duarte, R.; Balcells, S.: Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies. Hum. Mutat. 17: 504-510, 2001.
[0022688]13276.Rivera, A.; White, K.; Stohr, H.; Steiner, K.; Hemmrich, N.; Grimm, T.; Jurklies, B.; Lorenz, B.; Scholl, H. P. N.; Apfelstedt-Sylla, E.; Weber, B. H. F.: A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration. Am. J. Hum. Genet. 67: 800-813, 2000.
[0022689]13277.Shroyer, N. F.; Lewis, R. A.; Lupski, J. R.: Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance. Hum. Genet. 106: 244-248, 2000.
[0022690]13278.Shroyer, N. F.; Lewis, R. A.; Yatsenko, A. N.; Wensel, T. G.; Lupski, J. R.: Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration. Hum. Molec. Genet. 10: 2671-2678, 2001.
[0022691]13279.Sun, H.; Nathans, J.: Stargardt's ABCR is localized to the disc membrane of retinal rod outer segments. (Letter) Nature Genet. 17: 15-16, 1997.
[0022692]13280.Sun, H.; Smallwood, P. M.; Nathans, J.: Biochemical defects in ABCR protein variants associated with human retinopathies. Nature Genet. 26: 242-246, 2000.
[0022693]13281.Weng, J.; Mata, N. L.; Azarian, S. M.; Tzekov, R. T.; Birch, D. G.; Travis, G. H.: Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice. Cell 98: 13-23, 1999.
[0022694]13282.Yatsenko, A. N.; Shroyer, N. F.; Lewis, R. A.; Lupski, J. R.: Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4). Hum. Genet. 108: 346-355, 2001.
[0022695]13283.Escribano, J.; Hernando, N.; Ghosh, S.; Crabb, J.; Coca-Prados, M.: cDNA from human ocular ciliary epithelium homologous to beta ig-h3 is preferentially expressed as an extracellular protein in the corneal epithelium. J. Cell Physiol. 160: 511-521, 1994.
[0022696]13284.Gupta, S. K.; Hodge, W. G.; Damji, K. F.; Guernsey, D. L.; Neumann, P. E.: Lattice corneal dystrophy type 1 in a Canadian kindred is associated with the arg124-to-cys mutation in the kerato-epithelin gene. Am. J. Ophthal. 125: 547-549, 1998.
[0022697]13285.Korvatska, E.; Munier, F. L.; Djemai, A.; Wang, M. X.; Frueh, B.; Chiou, A. G.-Y.; Uffer, S.; Ballestrazzi, E.; Braunstein, R. E.; Forster, R. K.; Culbertson, W. W.; Boman, H.; Zografos, L.; Schorderet, D. F.: Mutation hot spots in 5q31-linked corneal dystrophies. Am. J. Hum. Genet. 62: 320-324, 1998.
[0022698]13286.Mashima, Y.; Nakamura, Y.; Noda, K.; Konishi, M.; Yamada, M.; Kudoh, J.; Shimizu, N.: A novel mutation at codon 124 (R124L) in the BIGH3 gene is associated with a superficial variant of granular corneal dystrophy. Arch. Ophthal. 117: 90-93, 1999.
[0022699]13287.Munier, F. L.; Korvatska, E.; Djemai, A.; Paslier, D. L.; Zografos, L.; Pescia, G.; Schordert, D. F.: Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nat. Genet. 15: 247-251, 1997.
[0022700]13288.Okada, M.; Yamamoto, S.; Tsujikawa, M.; Watanabe, H.; Inoue, Y.; Maeda, N.; Shimomura, Y.; Nishida, K.; Quantock, A. J.; Kinoshita, S.; Tano, Y.: Two distinct kerato-epithelin mutations in Reis-Bucklers corneal dystrophy. Am. J. Ophthal. 126: 535-542, 1998.
[0022701]13289.Okada, M.; Yamamoto, S.; Watanabe, H.; Inoue, Y.; Tsujikawa, M.; Maeda, N.; Shimomura, Y.; Nishida, K.; Kinoshita, S.; Tano, Y.: Granular corneal dystrophy with homozygous mutations in the kerato-epithelin gene. Am. J. Ophthal. 126: 169-176, 1998.
[0022702]13290.Faure, S.; Meyer, L.; Costagliola, D.; Vaneensberghe, C.; Genin, E.; Autran, B.; French ALT and IMMUNOCO Study Groups; Delfraisay, J.-F.; SEROCO Study Group; McDermott, D. H.; Murphy, P. M.; Debre, P.; Theodorou, I.; Cambadiere, C.: Rapid progression to AIDS in HIV+ individuals with a structural variant of the chemokine receptor CX(3)CR1. Science 287: 2274-2277, 2000.
[0022703]13291.Imai, T.; Hieshima, K.; Haskell, C.; Baba, M.; Nagira, M.; Nishimura, M.; Kakizaki, M.; Takagi, S.; Nomiyama, H.; Schall, T. J.; Yoshie, O.: Identification and molecular characterization of fractalkine receptor CX3CR1, which mediates both leukocyte migration and adhesion. Cell 91: 521-530, 1997.
[0022704]13292.Moatti, D.; Faure, S.; Fumeron, F.; Amara, M. E. W.; Seknadji, P.; McDermott, D. H.; Debre, P.; Aumont, M. C.; Murphy, P. M.; de Prost, D.; Combadiere, C.: Polymorphism in the fractalkine receptor CX3CR1 as a genetic risk factor for coronary artery disease. Blood 97: 1925-1928, 2001.
[0022705]13293.Raport, C. J.; Schweickart, V. L.; Eddy, R. L., Jr.; Shows, T. B.; Gray, P. W.: The orphan G-protein-coupled receptor-encoding gene V28 is closely related to genes for chemokine receptors and is expressed in lymphoid and neural tissues. Gene 163: 295-299, 1995.
[0022706]13294.Tripp, R. A.; Jones, L. P.; Haynes, L. M.; Zheng, H.; Murphy, P. M.; Anderson, L. J.: CX3C chemokine mimicry by respiratory syncytial virus G glycoprotein. Nature Immun. 2: 732-738, 2001.
[0022707]13295.Adra, C. N.; Zhu, S.; Ko, J.-L.; Guillemot, J.-C.; Cuervo, A. M.; Kobayashi, H.; Horiuchi, T.; Lelias, J.-M.; Rowley, J. D.; Lim, B. : LAPTM5: a novel lysosomal-associated multispanning membrane protein preferentially expressed in hematopoietic cells. Genomics 35: 328-337, 1996.
[0022708]13296.Bondurand, N.; Kuhlbrodt, K.; Pingault, V.; Enderich, J.; Sajus, M.; Tommerup, N.; Warburg, M.; Hennekam, R. C. M.; Read, A. P.; Wegner, M.; Goossens, M.: A molecular analysis of the Yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies. Hum. Molec. Genet. 8: 1785-1789, 1999.
[0022709]13297.Hennekam, R. C. M.; Gorlin, R. J.: Confirmation of Yemenite (Warburg) deaf-blind hypopigmentation syndrome. Am. J. Med. Genet. 65: 146-148, 1996.
[0022710]13298.Hanes, J.; von der Kammer, H.; Klaudiny, J.; Scheit, K. H.: Characterization by cDNA cloning of two new human protein kinases: evidence by sequence comparison of a new family of mammalian protein kinases. J. Molec. Biol. 244: 665-672, 1994.
[0022711]13299.Talmadge, C. B.; Finkernagel, S.; Sumegi, J.; Sciorra, L.; Rabinow, L.: Chromosomal mapping of three human LAMMER protein-kinase-encoding genes. Hum. Genet. 103: 523-524, 1998.
[0022712]13300.Fisher, R. P.; Morgan, D. O.: A novel cyclin associates with MO15/CDK7 to form the CDK-activating kinase. Cell 78: 713-724, 1994.
[0022713]13301.Shiekhattar, R.; Mermelstein, F.; Fisher, R. P.; Drapkin, R.; Dynlacht, B.; Wessling, H. C.; Morgan, D. O.; Reinberg: Cdk-activating kinase complex is a component of human transcription factor TFIIH. Nature 374: 283-287, 1995.
[0022714]13302.Alders, M.; Hodges, M.; Hadjantonakis, A.-K.; Postmus, J.; van Wijk, I.; Bliek, J.; de Meulemeester, M.; Westerveld, A.; Guillemot, F.; Oudejans, C.; Little, P.; Mannens, M.: The human Achaete-Scute homologue 2 (ASCL2,HASH2) maps to chromosome 11p15.5, close to IGF2 and is expressed in extravillus trophoblasts. Hum. Molec. Genet. 6: 859-867, 1997.
[0022715]13303.Guillemot, F.; Nagy, A.; Auerbach, A.; Rossant, J.; Joyner, A. L.: Essential role of Mash-2 in extraembryonic development. Nature 371: 333-336, 1994.
[0022716]13304.Banga, S. S.; Ozer, H. L.; Park, S.-K.; Lee, S.-T.: Assignment of PTK7 encoding a receptor protein tyrosine kinase-like molecule to human chromosome 6p21.1-p12.2 by fluorescence in situ hybridization. Cytogenet. Cell Genet. 76: 43-44, 1997.
[0022717]13305.Lee, S.-T.; Strunk, K. M.; Spritz, R. A.: A survey of protein tyrosine kinase mRNAs expressed in normal human melanocytes. Oncogene 8: 3403-3410, 1993.
[0022718]13306.Mossie, K.; Jallal, B.; Alves, F.; Sures, I.; Plowman, G. D.; Ullrich, A.: Colon carcinoma kinase-4 defines a new subclass of the receptor tyrosine kinase family. Oncogene 11: 2179-2184, 1995.
[0022719]13307.Park, S.-K.; Lee, H.-S.; Lee, S.-T.: Characterization of the human full-length PTK7 cDNA encoding a receptor protein tyrosine kinase-like molecule closely related to chick KLG. J. Biochem. 119: 235-239, 1996.
[0022720]13308.Kohler, M.; Ansieau, S.; Prehn, S.; Leutz, A.; Haller, H.; Hartmann, E.: Cloning of two novel human importin-alpha subunits and analysis of the expression pattern of the importin-alpha protein family. FEBS Lett. 417: 104-108, 1997.
[0022721]13309.Moore, M. S.; Blobel, G.: The two steps of nuclear import, targeting to the nuclear envelope and translocation through the nuclear pore, require different cytosolic factors. Cell 69: 939-950, 1992.
[0022722]13310.Takeda, S.; Fujiwara, T.; Shimizu, F.; Kawai, A.; Shinomiya, K.; Okuno, S.; Ozaki, K.; Katagiri, T.; Shimada, Y.; Nagata, M.; Watanabe, T.; Takaichi, A.; Kuga, Y.; Suzuki, M.; Hishigaki, H.; Takahashi, E.; Shin, S.; Nakamura, Y.; Hirai, Y.: Isolation and mapping of karyopherin alpha-3 (KPNA3), a human gene that is highly homologous to genes encoding Xenopus importin, yeast SRP1 and human RCH1. Cytogenet. Cell Genet. 76: 87-93, 1997.
[0022723]13311.Zhang, C.-Y.; Baffy, G.; Perret, P.; Krauss, S.; Peroni, O.; Grujic, D.; Hagen, T.; Vidal-Puig, A.; Boss, O.; Kim, Y.-B.; Zheng, X. X.; Wheeler, M. B.; Shulman, G. I.; Chan, C. B.; Lowell, B. B.: Uncoupling protein-2 negatively regulates insulin secretion and is a major link between obesity, beta cell dysfunction, and type 2 diabetes. Cell 105: 745-755, 2001.
[0022724]13312.Edlund, A.; Johansson, T.; Leidvik, B.; Hansson, L.: Structure of the human kappacasein gene. Gene 174: 65-69, 1996.
[0022725]13313.Sprecher, C. A.; Morgenstern, K. A.; Mathewes, S.; Dahlen, J. R.; Schrader, S. K.; Foster, D. C.; Kisiel, W.: Molecular cloning, expression, and partial characterization of two novel members of the ovalbumin family of serine proteinase inhibitors. J. Biol. Chem. 270: 29854-29861, 1995.
[0022726]13314.Morahan, G.; Huang, D.; Yu, W.-P.; Cui, L.; DeAizpurua, H.; Pallen, C. J.: Localization of the genes encoding the type I diabetes autoantigens, protein-tyrosine phosphatases IA2 and IAR. Mammalian Genome 9: 593-594, 1998.
[0022727]13315.Chevalier, D.; Cauffiez, C.; Bernard, C.; Lo-Guidice, J.-M.; Allorge, D.; Fazio, F.; Ferrari, N.; Libersa, C.; Lhermitte, M.; D'Halluin, J.-C.; Broly, F.: Characterization of new mutations in the coding sequence and 5-prime-untranslated region of the human prostacyclin synthase gene (CYP8A1). Hum. Genet. 108: 148-155, 2001.
[0022728]13316.Park, W. S.; Lee, J. H.; Shin, M. S.; Park, J. Y.; Kim, H. S.; Lee, J. H.; Kim, Y. S.; Lee, S. N.; Xiao, W.; Park, C. H.; Lee, S. H.; Yoo, N. J.; Lee, J. Y.: Inactivating mutations of the caspase-10 gene in gastric cancer. Oncogene 21: 2919-2925, 2002.
[0022729]13317.Shin, M. S.; Kim, H. S.; Kang, C. S.; Park, W. S.; Kim, S. Y.; Lee, S. N.; Lee, J. H.; Park, J. Y.; Jang, J. J.; Kim, C. W.; Kim, S. H.; Lee, J. Y.; Yoo, N. J.; Lee, S. H.: Inactivating mutations of CASP10 gene in non-Hodgkin lymphomas. Blood 99: 4094-4099, 2002.
[0022730]13318.Vincenz, C.; Dixit, V. M.: Fas-associated death domain protein interleukin-1-betaconverting enzyme 2 (FLICE2), an ICE/Ced-3 homologue, is proximally involved in CD95- and p55-mediated death signaling. J. Biol. Chem. 272: 6578-6583, 1997.
[0022731]13319.Wang, J.; Chun, H. J.; Wong, W.; Spencer, D. M.; Lenardo, M. J. : Caspase-10 is an initiator caspase in death receptor signaling. Proc. Nat. Acad. Sci. 98: 13884-13888, 2001.
[0022732]13320.Wang, J.; Zheng, L.; Lobito, A.; Chan, F. K.; Dale, J.; Sneller, M.; Yao, X.; Puck, J. M.; Straus, S. E.; Lenardo, M. J.: Inherited human caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II. Cell 98: 47-58, 1999.
[0022733]13321.Chun, H. J.; Zheng, L.; Ahmad, M.; Wang, J.; Speirs, C. K.; Siegel, R. M.; Dale, J. K.; Puck, J.; Davis, J.; Hall, C. G.; Skoda-Smith, S.; Atkinson, T. P.; Straus, S. E.; Lenardo, M. J.: Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency. Nature 419: 395-399, 2002.
[0022734]13322.Grenet, J.; Teitz, T.; Wei, T.; Valentine, V.; Kidd, V. J.: Structure and chromosome localization of the human CASP8 gene. Gene 226: 225-232, 1999.
[0022735]13323.Kischkel, F. C.; Kioschis, P.; Weitz, S.; Poustka, A.; Lichter, P.; Krammer, P. H.: Assignment of CASP8 to human chromosome band 2q33-q34 and Casp8 to the murine syntenic region on chromosome 1B-proximal C by in situ hybridization. Cytogenet. Cell Genet. 82: 95-96, 1998.
[0022736]13324.Sanchez, I.; Xu, C.-J.; Juo, P.; Kakizaka, A.; Blenis, J.; Yuan, J.: Caspase-8 is required for cell death induced by expanded polyglutamine repeats. Neuron 22: 623-633, 1999.
[0022737]13325.Varfolomeev, E. E.; Schuchmann, M.; Luria, V.; Chiannilkulchai, N.; Beckmann, J. S.; Mett, I. L.; Rebrikov, D.; Brodianski, V. M.; Kemper, O. C.; Kollet, O.; Lapidot, T.; Soffer, D.; Sobe, T.; Avraham, K. B.; Goncharov, T.; Holtmann, H.; Lonai, P.; Wallach, D.: Targeted disruption of the mouse Caspase 8 gene ablates cell death induction by the TNF receptors, Fas/Apo1, and DR3 and is lethal prenatally. Immunity 9: 267-276, 1998.
[0022738]13326.Wang, Y.-K.; Samos, C. H.; Peoples, R.; Perez-Jurado, L. A.; Nusse, R.; Francke, U.: A novel human homologue of the Drosophila frizzled wnt receptor gene binds wingless protein and is in the Williams syndrome deletion at 7q11.23. Hum. Molec. Genet. 6: 465-472, 1997.
[0022739]13327.Kalchman, M. A.; Koide, H. B.; McCutcheon, K.; Graham, R. K.; Nichol, K.; Nishiyama, K.; Kazemi-Esfarjani, P.; Lynn, F. C.; Wellington, C.; Metzler, M.; Goldberg, Y. P.; Kanazawa, I.; Gietz, R. D.; Hayden, M. R.: HIP1, a human homologue of S. cerevisiae Slap2, interacts with membrane-associated huntingtin in the brain. Nature Genet. 16: 44-53, 1997.
[0022740]13328.Wanker, E. E.; Rovira, C.; Scherzinger, E.; Hasenbank, R.; Walter, S.; Tait, D.; Colicelli, J.; Lehrach, H.: HIP-I: a huntingtin interacting protein isolated by the yeast two-hybrid system. Hum. Molec. Genet. 6: 487-495, 1997.
[0022741]13329.Cao, Y.; Traer, E.; Zimmerman, G. A.; McIntyre, T. M.; Prescott, S. M.: Cloning, expression, and chromosomal localization of human long-chain fatty acid-CoA ligase 4 (FACL4). Genomics 49: 327-330, 1998.
[0022742]13330.Langkopf, A.; Hammarback, J. A.; Muller, R.; Vallee, R. B.; Garner, C. C.: Microtubule-associated proteins 1A and LC2: Two proteins encoded in one messenger RNA. J. Biol. Chem. 267: 16561-16566, 1992.
[0022743]13331.Sun, X.-H.; Copeland, N. G.; Jenkins, N. A.; Baltimore, D.: Id proteins Id1 and Id2 selectively inhibit DNA binding by one class of helix-loop-helix proteins. Molec. Cell. Biol. 11: 5603-5611, 1991.
[0022744]13332.Kordeli, E.; Bennett, V.: Distinct ankyrin isoforms at neuron cell bodies and nodes of Ranvier resolved using erythrocyte ankyrin-deficient mice. J. Cell Biol. 114: 1243-1259, 1991.
[0022745]13333.Reche, P. A.; Soumelis, V.; Gorman, D. M.; Clifford, T.; Liu, M.; Travis, M.; Zurawski, S. M.; Johnston, J.; Liu, Y.-J.; Spits, H.; de Waal Malefyt, R.; Kastelein, R. A.; Bazan, J. F.: Human thymic stromal lymphopoietin preferentially stimulates myeloid cells. J. Immun. 167: 336-343, 2001.
[0022746]13334.Nagase, T.; Kikuno, R.; Nakayama, M.; Hirosawa, M.; Ohara, O.: Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. DNA Res. 7: 273-281, 2000.
[0022747]13335.Kurochkin, I. V.; Yonemitsu, N.; Funahashi, S.; Nomura, H.: ALEX1, a novel human armadillo repeat protein that is expressed differentially in normal tissues and carcinomas. Biochem. Biophys. Res. Commun. 280: 340-347, 2001.
[0022748]13336.Nagase, T.; Ishikawa, K.; Miyajima, N.; Tanaka, A.; Kotani, H.; Nomura, N.; Ohara, O.: Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. DNA Res. 5: 31-39, 1998.
[0022749]13337.Chuang, T.-H.; Ulevitch, R. J.: Cloning and characterization of a sub-family of human Toll-like receptors: hTLR7, hTLR8 and hTLR9. Europ. Cytokine Netw. 11: 372-378, 2000.
[0022750]13338.Du, X.; Poltorak, A.; Wei, Y.; Beutler, B.: Three novel mammalian toll-like receptors: gene structure, expression, and evolution. Europ. Cytokine Netw. 11: 362-371, 2000.
[0022751]13339.Kadowaki, N.; Ho, S.; Antonenko, S.; de Waal Malefyt, R.; Kastelein, R. A.; Bazan, F.; Liu, Y.-J.: Subsets of human dendritic cell precursors express different Toll-like receptors and respond to different microbial antigens. J. Exp. Med. 194: 863-869, 2001.
[0022752]13340.Schwartz, J. M.; Paress, P. S.; Ross, J. M.; Dipillo, F.; Rizek, R.: Unstable variant of NADH methemoglobin reductase in Puerto Ricans with hereditary methemoglobinemia. J. Clin. Invest. 51: 1594-1601, 1972.
[0022753]13341.Roy, N.; Mahadevan, M. S.; McLean, M.; Shutler, G.; Yaraghi, Z.; Farahani, R.; Baird, S.; Besner-Johnston, A.; Lefebvre, C.; Kang, X.; Salih, M.; Aubry, H.; Tamai, K.; Guan, X.; Ioannou, P.; Crawford, T. O.; de Jong, P. J.; Surh, L.; Ikeda, J.-E.; Korneluk, R. G.; MacKenzie, A.: The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell 80: 167-178, 1995.
[0022754]13342.Barton, D. E.; Foellmer, B. E.; Wood, W. I.; Francke, U.: Chromosome mapping of the growth hormone receptor gene in man and mouse. Cytogenet. Cell Genet. 50: 137-141, 1989.
[0022755]13343.Berg, M. A.; Argente, J.; Chernausek, S.; Gracia, R.; Guevara-Aguirre, J.; Hopp, M.; Perez-Jurado, L.; Rosenbloom, A.; Toledo, S. P. A.; Francke, U.: Diverse growth hormone receptor gene mutations in Laron syndrome. Am. J. Hum. Genet. 52: 998-1005, 1993.
[0022756]13344.Ezekowitz, R. A. B.; Dinauer, M. C.; Jaffe, H. S.; Orkin, S. H.; Newburger, P. E.: Partial correction of the phagocyte defect in patients with X-linked chronic granulomatous disease by subcutaneous interferon gamma. New Eng. J. Med. 319: 146-151, 1988.
[0022757]13345.Frattini, A.; Orchard, P. J.; Sobacchi, C.; Giliani, S.; Abinun, M.; Mattsson, J. P.; Keeling, D. J.; Andersson, A.-K.; Wallbrandt, P.; Zecca, L.; Notarangelo, L. D.; Vezzoni, P.; Villa, A.: Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis. Nature Genet. 25: 343-346, 2000.
[0022758]13346.Afzal, A. R.; Rajab, A.; Fenske, C. D.; Oldridge, M.; Elanko, N.; Ternes-Pereira, E.; Tuysuz, B.; Murday, V. A.; Patton, M. A.; Wilkie, A. O. M.; Jeffery, S.: Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. Nature Genet. 25: 419-422, 2000.
[0022759]13347.van Bokhoven, H.; Celli, J.; Kayserili, H.; van Beusekom, E.; Balci, S.; Brussel, W.; Skovby, F.; Kerr, B.; Percin, E. F.; Akarsu, N.; Brunner, H. G.: Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome. Nature Genet. 25: 423-426, 2000.
[0022760]13348.Sorge, G.; Ruggieri, M.; Lachman, R. S.: Spondyloperipheral dysplasia. Am. J. Med. Genet. 59: 139-142, 1995.
[0022761]13349.Sybert, V. P.; Byers, P. H.; Hall, J. G.: Variable expression in a dominantly inherited skeletal dysplasia with similarities to brachydactyly E and spondyloepiphyseal-spondyloperipheral dysplasia. Clin. Genet. 15: 160-166, 1979.
[0022762]13350.Vanek, J.: Spondyloperipheral dysplasia. J. Med. Genet. 20: 117-121, 1983.
[0022763]13351.Zabel, B.; Hilbert, K.; Stoss, H.; Superti-Furga, A.; Spranger, J.; Winterpacht, A.: A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia. Am. J. Med. Genet. 63: 123-128, 1996.
[0022764]13352.Adornato, B. T.; O'Brien, J. S.; Lampert, P. W.; Roe, T. F.; Neustein, H. B.: Cerebral spongy degeneration of infancy: a biochemical and ultrastructural study of affected twins. Neurology 22: 202-210, 1972.
[0022765]13353.Aduchi, M.; Aronson, S. M.: Studies on spongy degeneration of the central nervous system (van Bogaert-Bertrand type).In: Aronson, S. M.; Volk, B. W.: Inborn Disorders of Sphingolipid Metabolism. Oxford: Pergamon Press (pub.) 1967. Pp. 129-147.
[0022766]13354.Banker, B. Q.; Robertson, J. T.; Victor, M.: Spongy degeneration of the central nervous system in infancy. Neurology 14: 981-1001, 1964.
[0022767]13355.Banker, B. Q.; Victor, M.: Spongy degeneration of infancy.In: Goodman, R. E.; Motulsky, A. G.: Genetic Diseases Among Ashkenazi Jews. New York: Raven Press (pub.) 1979. Pp. 201-216.
[0022768]13356.Chou, S. M.; Waisman, H. A.: Spongy degeneration of the central nervous system: case of homocystinuria. Arch. Path. 79: 357-363, 1965.
[0022769]13357.den Dunnen, J. T.; Grootscholten, P. M.; Bakker, E.; Blonden, L. A. J.; Ginjaar, H. B.; Wapenaar, M. C.; van Paassen, H. M. B.; van Broeckhoven, C.; Pearson, P. L.; van Ommen, G. J. B.: Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications. Am. J. Hum. Genet. 45: 835-847, 1989.
[0022770]13358.Abrams, C. K.; Bennett, M. V. L.; Verselis, V. K.; Bargiello, T. A.: Voltage opens unopposed gap junction hemichannels formed by a connexin 32 mutant associated with X-linked Charcot-Marie-Tooth disease. Proc. Nat. Acad. Sci. 99: 3980-3984, 2002.
[0022771]13359.Ainsworth, P. J.; Bolton, C. F.; Murphy, B. C.; Stuart, J. A.; Hahn, A. F.: Genotype/phenotype correlation in affected individuals of a family with a deletion of the entire coding sequence of the connexin 32 gene. Hum. Genet. 103: 242-244, 1998.
[0022772]13360.Bahr, M.; Andres, F.; Timmerman, V.; Nelis, M. E.; Van Broeckhoven, C.; Dichgans, J.: Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an asn205-to-ser mutation in the connexin 32 gene. J. Neurol. Neurosurg. Psychiat. 66: 202-206, 1999.
[0022773]13361.Bergoffen, J.; Scherer, S. S.; Wang, S.; Oronzi Scott, M.; Bone, L. J.; Paul, D. L.; Chen, K.; Lensch, M. W.; Chance, P. F.; Fischbeck, K. H.: Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science 262: 2039-2042, 1993.
[0022774]13362.Bondurand, N.; Girard, M.; Pingault, V.; Lemort, N.; Dubourg, O.; Goossens, M.: Human connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10. Hum. Molec. Genet. 10: 2783-2795, 2001.
[0022775]13363.Bone, L. J.; Dahl, N.; Lensch, M. W.; Chance, P. F.; Kelly, T.; Le Guern, E.; Magi, S.; Parry, G.; Shapiro, H.; Wang, S.; Fischbeck, K. H.: New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease. Neurology 45: 1863-1866, 1995.
[0022776]13364.Corcos, I. A.; Lafreniere, R. G.; Begy, C. R.; Loch-Caruso, R.; Willard, H. F.; Glover, T. W.: Refined localization of human connexin 32 gene locus, GJB1, to Xq13.1. Genomics 13: 479-480, 1992.
[0022777]13365.Fairweather, N.; Bell, C.; Cochrane, S.; Chelly, J.; Wang, S.; Mostacciuolo, M. L.; Monaco, A. P.; Haites, N. E.: Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1). Hum. Molec. Genet. 3: 29-34, 1994.
[0022778]13366.Fishman, G. I.; Eddy, R. L.; Shows, T. B.; Rosenthal, L.; Leinwand, L. A.: The human connexin gene family of gap junction proteins: distinct chromosomal locations but similar structure. Genomics 10: 250-256, 1991.
[0022779]13367.Ikegami, T.; Lin, C.; Kato, M.; Itoh, A.; Nonaka, I.; Kurimura, M.; Hirayabashi, H.; Shinohara, Y.; Mochizuki, A.; Hayasaka, K.: Four novel mutations of the connexin 32 gene in four Japanese families with Charcot-Marie-Tooth disease type 1. Am. J. Med. Genet. 80: 352-355, 1998.
[0022780]13368.Ionasescu, V.; Ionasescu, R.; Searby, C.: Correlation between connexin32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy. Am. J. Med. Genet. 63: 486-491, 1996.
[0022781]13369.Ionasescu, V. V.; Searby, C.; Ionasescu, R.; Neuhaus, I. M.; Werner, R.: Mutations of the noncoding region of the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy. Neurology 47: 541-544, 1996.
[0022782]13370.Janssen, E. A. M.; Kemp, S.; Hensels, G. W.; Sie, O. G.; de Die-Smulders, C. E. M.; Hoogendijk, J. E.; de Visser, M.; Bolhuis, P. A.: Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1). Hum. Genet. 99: 501-505, 1997.
[0022783]13371.Kumar, N. M.; Gilula, N. B.: The gap junction communication channel. Cell 84: 381-388, 1996.
[0022784]13372.Lafreniere, R. G.; Brown, C. J.; Powers, V. E.; Carrel, L.; Davies, K. E.; Barker, D. F.; Willard, H. F.: Physical mapping of 60 DNA markers in the p21.1-q21.3 region of the human X chromosome. Genomics 11: 352-363, 1991.
[0022785]13373.Latour, P.; Levy, N.; Paret, M.; Chapon, F.; Chazot, G.; Clavelou, P.; Couratier, P.; Dumas, R.; Ollagnon, E.; Pouget, J.; Setiey, A.; Vallat, J. M.; Boucherat, M.; Fontes, M.; Vandenberghe, A.: Mutations in the X-linked form of Charcot-Marie-Tooth disease in the French population. Neurogenetics 1: 117-123, 1997.
[0022786]13374.Nelis, E.; Simokovic, S.; Timmerman, V.; Lofgren, A.; Backhovens, H.; De Jonghe, P.; Martin, J.-J.; Van Broeckhoven, C.: Mutation analysis of the connexin 32 (Cx32) gene in Charcot-Marie-Tooth neuropathy type 1: identification of five new mutations. Hum. Mutat. 9: 47-52, 1997.
[0022787]13375.Raimondi, E.; Gaudi, S.; Moralli, D.; De Carli, L.; Malcovati, M.; Simonic, T.; Tenchini, M. L.: Assignment of the human connexin 32 gene (GJB1) to band Xq13. Cytogenet. Cell Genet. 60: 210-211, 1992.
[0022788]13376.Eng, B. H.; Guerinot, M. L.; Eide, D.; Saier, M. H., Jr.: Sequence analyses and phylogenetic characterization of the ZIP family of metal ion transport proteins. J. Membr. Biol. 166: 1-7, 1998.
[0022789]13377.Lioumi, M.; Ferguson, C. A.; Sharpe, P. T.; Freeman, T.; Marenholz, I.; Mischke, D.; Heizmann, C.; Ragoussis, J.: Isolation and characterization of human and mouse ZIRTL, a member of the IRT1 family of transporters, mapping within the epidermal differentiation complex. Genomics 62: 272-280, 1999.
[0022790]13378.Lioumi, M.; Olavesen, M. G.; Nizetic, D.; Ragoussis, J.: High-resolution YAC fragmentation map of 1q21. Genomics 49: 200-208, 1998.
[0022791]13379.Leiper, J. M,; Santa Maria, J.; Chubb, A.; MacAllister, R. J.; Charles, I. G.; Whitley, G. S.; Vallance, P.: Identification of two human dimethylarginine dimethylaminohydrolases with distinct tissue distributions and homology with microbial arginine deiminases. Biochem. J. 343: 209-214, 1999.
[0022792]13380.Tran, C. T. L.; Fox, M. F.; Vallance, P.; Leiper, J. M.: Chromosomal localization, gene structure, and expression pattern of DDAH1: comparison with DDAH2 and implications for evolutionary origins. Genomics 68: 101-105, 2000.
[0022793]13381.Vanhalst, K.; Kools, P.; Eynde, E. V.; van Roy, F.: The human and murine protocadherin-beta one-exon gene families show high evolutionary conservation, despite the difference in gene number. FEBS Lett. 495: 120-125, 2001.
[0022794]13382.Wu, Q.; Maniatis, T.: A striking organization of a large family of human neural cadherin like cell adhesion genes. Cell 97: 779-790, 1999.
[0022795]13383.Marie-Cardine, A.; Bruyns, E.; Eckerskorn, C.; Kirchgessner, H.; Meuer, S. C.; Schraven, B.: Molecular cloning of SKAP55, a novel protein that associates with the protein tyrosine kinase p59-fyn in human T-lymphocytes. J. Biol. Chem. 272: 16077-16080, 1997.
[0022796]13384.Katayama, H.; Ota, T.; Morita, K.; Terada, Y.; Suzuki, F.; Katoh, O.; Tatsuka, M.: Human AIM-1: cDNA cloning and reduced expression during endomitosis in megakaryocyte-lineage cells. Gene 224: 1-7, 1998.
[0022797]13385.Kimura, M.; Matsuda, Y.; Yoshioka, T.; Sumi, N.; Okano, Y.: Identification and characterization of STK12/Aik2: a human gene related to aurora of Drosophila and yeast IPL1. Cytogenet. Cell Genet. 82: 147-152, 1998.
[0022798]13386.Tatsuka, M.; Katayama, H.; Ota, T.; Tanaka, T.; Odashima, S.; Suzuki, F.; Terada, Y.: Multinuclearity and increased ploidy caused by overexpression of the aurora- and Ipl1-like midbodyassociated protein mitotic kinase in human cancer cells. Cancer Res. 58: 4811-4816, 1998.
[0022799]13387.Chen, C. M.; Kraut, N.; Groudine, M.; Weintraub, H.: I-mf, a novel myogenic repressor, interacts with members of the MyoD family. Cell 86: 731-741, 1996.
[0022800]13388.Kraut, N.: The gene encoding I-mf (Mdfi) maps to human chromosome 6p21 and mouse chromosome 17. Mammalian Genome 8: 618-619, 1997.
[0022801]13389.Kraut, N.; Snider, L.; Chen, C.-M. A.; Tapscott, S. J.; Groudine, M.: Requirement of the mouse I-mfa gene for placental development and skeletal patterning. EMBO J. 17: 6276-6288, 1998.
[0022802]13390.Inaba, S.; Okochi, K.; Yae, Y.; Niklasson, F.; de Verder, C.-H. : Serological studies of an SLE-associated antigen-antibody system discovered as a precipitation reaction in agarose gel: the Hakata antigen-antibody system. Fukuoka Igaku Zasshi 81: 284-291, 1990.
[0022803]13391.Sugimoto, R.; Yae, Y.; Akaiwa, M.; Kitajima, S.; Shibata, Y.; Sato, H.; Hirata, J.; Okochi, K.; Izuhara, K.; Hamasaki, N.: Cloning and characterization of the Hakata antigen, a member of the ficolin/opsonin p35 lectin family. J. Biol. Chem. 273: 20721-20727, 1998.
[0022804]13392.Llano, E.; Pendas, A. M.; Freije, J. P.; Nakano, A.; Knauper, V.; Murphy, G.; Lopez-Otin, C.: Identification and characterization of human MT5-MMP, a new membrane-bound activator of progelatinase A overexpressed in brain tumors. Cancer Res. 59: 2570-2576, 1999.
[0022805]13393.Guttinger, M.; Sutti, F.; Panigada, M.; Porcellini, S.; Merati, B.; Mariani, M.; Teesalu, T.; Consalez, G. G.; Grassi, F.: Epithelial V-like antigen (EVA), a novel member of the immunoglobulin superfamily, expressed in embryonic epithelia with a potential role as homotypic adhesion molecule in thymus histogenesis. J. Cell Biol. 141: 1061-1071, 1998.
[0022806]13394.Bahler, M.: Myosins on the move to signal transduction. Curr. Opin. Cell Biol. 8: 18-22, 1996.
[0022807]13395.Gorman, S. W.; Haider, N. B.; Grieshammer, U.; Swiderski, R. E.; Kim E; Welch, J. W.; Searby, C.; Leng, S.; Carmi, R.; Sheffield, V. C.; Duhl, D. M.: The cloning and developmental expression of unconventional myosin IXA (MYO9A) a gene in the Bardet-Biedl syndrome (BBS4) region at chromosome 15q22-q23. Genomics 59: 150-160, 1999.
[0022808]13396.Dunham, I.; Shimizu, N.; Roe, B. A.; Chissoe, S.; Hunt, A. R.; Collins, J. E.; Bruskiewich, R.; Beare, D. M.; Clamp, M.; Smink, L. J.; Ainscough, R.; Almeida, J. P.; and 205 others: The DNA sequence of human chromosome 22. Nature 402: 489-495, 1999.
[0022809]13397.Kimura, T.; Ivell, R.; Rust, W.; Mizumoto, Y.; Ogita, K.; Kusui, C.; Matsumura, Y.; Azuma, C.; Murata, Y.: Molecular cloning of a human MafF homologue, which specifically binds to the oxytocin receptor gene in term myometrium. Biochem. Biophys. Res. Commun. 264: 86-92, 1999.
[0022810]13398.Hiki, K.; D'Andrea, R. J.; Furze, J.; Crawford, J.; Woollatt, E.; Sutherland, G. R.; Vadas, M. A.; Gamble, J. R.: Cloning, characterization, and chromosomal location of a novel human K(+)-Cl(-) cotransporter. J. Biol. Chem. 274: 10661-10667, 1999.
[0022811]13399.Mount, D. B.: Personal Communication. Nashville, Tenn. 3/28/2000.
[0022812]13400.Mount, D. B.; Mercado, A.; Song, L.; Xu, J.; George, A. L., Jr.; Delpire, E.; Gamba, G.: Cloning and characterization of KCC3 and KCC4, new members of the cation-chloride cotransporter gene family. J. Biol. Chem. 274: 16355-16362, 1999.
[0022813]13401.Herzing, L. B. K.; Kim, S.-J.; Cook, E. H., Jr.; Ledbetter, D. H.: The human aminophospholipid-transporting ATPase gene ATP10C maps adjacent to UBE3A and exhibits similar imprinted expression. Am. J. Hum. Genet. 68: 1501-1505, 2001.
[0022814]13402.Dode, C.; Le Du, N.; Cuisset, L.; Letourneur, F.; Berthelot, J.-M.; Vaudour, G.; Meyrier, A.; Watts, R. A.; Scott, D. G. I.; Nicholls, A.; Granel, B.; Frances, C.; Garcier, F.; Edery, P.; Boulinguez, S.; Domergues, J.-P.; Delpech, M.; Grateau, G.: New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes. Am. J. Hum. Genet. 70: 1498-1506, 2002.
[0022815]13403.Feldmann, J.; Prieur, A.-M.; Quartier, P.; Berquin, P.; Certain, S.; Cortis, E.; Teillac-Hamel, D.; Fischer, A.; de Saint Basile, G. : Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. Am. J. Hum. Genet. 71: 198-203, 2002.
[0022816]13404.Greeve, I.; Hermans-Borgmeyer, I.; Brellinger, C.; Kasper, D.; Gomez-Isla, T.; Behl, C.; Levkau, B.; Nitsch, R. M.: The human DIMINUTO/DWARF1 homolog seladin-1 confers resistance to Alzheimer's disease-associated neurodegeneration and oxidative stress. J. Neurosci. 20: 7345-7352, 2000.
[0022817]13405.Sarkar, D.; Imai, T.; Kambe, F.; Shibata, A.; Ohmori, S.; Siddiq, A.; Hayasaka, S.; Funahashi, H.; Seo, H.: The human homolog of Diminuto/Dwarf1 gene (hDiminuto): a novel ACTHresponsive gene overexpressed in benign cortisol-producing adrenocortical adenomas. J. Clin. Endocr. Metab. 86: 5130-5137, 2001.
[0022818]13406.Hattori, M.; Fujiyama, A.; Taylor, T. D.; Watanabe, H.; Yada, T.; Park, H.-S.; Toyoda, A.; Ishii, K.; Totoki, Y.; Choi, D.-K.; Groner, Y.; Soeda, E.; and 52 others: The DNA sequence of human chromosome 21. Nature 405: 311-319, 2000. Note: Erratum: Nature: 407: 110 only, 2000.
[0022819]13407.Wilcox, E. R.; Burton, Q. L.; Naz, S.; Riazuddin, S.; Smith, T. N.; Ploplis, B.; Belyatseva, I.; Ben-Yosef, T.; Liburd, N. A.; Morell, R. J.; Kachar, B.; Wu, D. K.; Griffith, A. J.; Riazuddin, S.; Friedman, T. B.: Mutations in the gene encoding tight junction claudin-14 cause recessive deafness DFNB29. Cell 104: 165-172, 2001.
[0022820]13408.Volkert, M. R.; Elliott, N. A.; Housman, D. E.: Functional genomics reveals a family of eukaryotic oxidation protection genes. Proc. Nat. Acad. Sci. 97: 14530-14535, 2000.
[0022821]13409.Dunlevy, J. R.; Berryhill, B. L.; Vergnes, J.-P.; SundarRaj, N.; Hassell, J. R.: Cloning, chromosomal localization, and characterization of cDNA from a novel gene, SH3BP4, expressed by human corneal fibroblasts. Genomics 62: 519-524, 1999.
[0022822]13410.Wong, W. T.; Schumacher, C.; Salcini, A. E.; Romano, A.; Castagnino, P.; Pelicci, P. G.; DiFiore, P. P.: A protein-binding domain, EH, identified in the receptor tyrosine kinase substrate Eps15 and conserved in evolution. Proc. Nat. Acad. Sci. 92: 9530-9534, 1995.
[0022823]13411.Yamadori, T.; Baba, Y.; Matsushita, M.; Hashimoto, S.; Kurosaki, M.; Kurosaki, T.; Kishimoto, T.; Tsukada, S.: Bruton's tyrosine kinase activity is negatively regulated by Sab, the Btk-SH3 domain-binding protein. Proc. Nat. Acad. Sci. 96: 6341-6346, 1999.
[0022824]13412.Engqvist-Goldstein, A. E. Y.; Kessels, M. M.; Chopra, V. S.; Hayden, M. R.; Drubin, D. G.: An actin-binding protein of the Sla2/Huntingtin interacting protein 1 family is a novel component of clathrin-coated pits and vesicles. J. Cell Biol. 147: 1503-1518, 1999.
[0022825]13413.Baba, Y.; Matsushita, M.; Matsuda, Y.; Inazawa, J.; Yamadori, T.; Hashimoto, S.; Kishimoto, T.; Tsukada, S.: Assignment of SH3BP5/Sh3bp5 encoding Sab, an SH3 domain-binding protein which preferentially associates with Bruton's tyrosine kinase, to human chromosome 1q43 and mouse chromosome 14B by in situ hybridization. Cytogenet. Cell Genet. 87: 221-222, 1999.
[0022826]13414.Matsushita, M.; Yamadori, T.; Kato, S.; Takemoto, Y.; Inazawa, J.; Baba, Y.; Hashimoto, S.; Sekine, S.; Arai, S.; Kunikata, T.; Kurimoto, M.; Kishimoto, T.; Tsukada, S.: Identification and characterization of a novel SH3-domain binding protein, Sab, which preferentially associates with Bruton's tyrosine kinase (Btk). Biochem. Biophys. Res. Commun. 245: 337-343, 1998.
[0022827]13415.Itoh, T.; Koshiba, S.; Kigawa, T.; Kikuchi, A.; Yokoyama, S.; Takenawa, T.: Role of the ENTH domain in phosphatidylinositol-4,5-biphosphate binding and endocytosis. Science 291: 1047-1051, 2001.
[0022828]13416.Seki, N.; Muramatsu, M.; Sugano, S.; Suzuki, Y.; Nakagawara, A.; Ohhira, M.; Hayashi, A.; Hori, T.; Saito, T.: Cloning, expression analysis, and chromosomal localization of HIP1R, an isolog of huntingtin interacting protein (HIP1). J. Hum. Genet. 43: 268-271, 1998.
[0022829]13417.Nash, S. R.; Giros, B.; Kingsmore, S. F.; Kim, K. M.; El-Mestikawy, S.; Dong, Q.; Fumagalli, F.; Seldin, M. F.; Caron, M. G.: Cloning, gene structure and genomic localization of an orphan transporter from mouse kidney with six alternatively-spliced isoforms. Receptors Channels 6: 113-128, 1998.
[0022830]13418.Scott, A. F.: Personal Communication. Baltimore, Md. 2/5/2001.
[0022831]13419.Meguro, M.; Kashiwagi, A.; Mitsuya, K.; Nakao, M.; Kondo, I.; Saitoh, S.; Oshimura, M.: A novel maternally expressed gene, ATP10C, encodes a putative aminophospholipid translocase associated with Angelman syndrome. Nature Genet. 28: 19-20, 2001.
[0022832]13420.Nakakura, E. K.; Watkins, D. N.; Schuebel, K. E.; Sriuranpong, V.; Borges, M. W.; Nelkin, B. D.; Ball, D. W.: Mammalian Scratch: a neural-specific Snail family transcriptional repressor. Proc. Nat. Acad. Sci. 98: 4010-4015, 2001.
[0022833]13421.Scott, A. F.: Personal Communication. Baltimore, Md. 6/21/2001.
[0022834]13422.Hoatlin, M. E.; Zhi, Y.; Ball, H.; Silvery, K.; Melnick, A.; Stone, S.; Arai, S.; Hawe, N.; Owen, G.; Zelent, A.; Licht, J. D.: A novel BTB/POZ transcriptional repressor protein interacts with the Fanconi anemia group C protein and PLZF. Blood 94: 3737-3747, 1999.
[0022835]13423.Lin, W.; Lai, C.-H.; Tang, C.-J. C.; Huang, C.-J.; Tang, T. K. : Identification and gene structure of a novel human PLZF-related transcription factor gene, TZFP. Biochem. Biophys. Res. Commun. 264: 789-795, 1999.
[0022836]13424.Yokoyama-Kobayashi, M.; Yamaguchi, T.; Sekine, S.; Kato, S.: Selection of cDNAs encoding putative type II membrane proteins on the cell surface from a human full-length cDNA bank. Gene 228: 161-167, 1999.
[0022837]13425.Shiraishi, N.; Natsume, A.; Togayachi, A.; Endo, T.; Akashima, T.; Yamada, Y.; Imai, N.; Nakagawa, S.; Koizumi, S.; Sekine, S.; Narimatsu, H.; Sasaki, K.: Identification and characterization of three novel beta-1,3-N-acetylglucosaminyltransferases structurally related to the beta-1,3-galactosyltransferase family. J. Biol. Chem. 276: 3498-3507, 2001.
[0022838]13426.Yokoyama-Kobayashi, M.; Sugano, S.; Kato, T.; Kato, S.: A signal sequence detection system using secreted protease activity as an indicator. Gen e 163: 193-196, 1995.
[0022839]13427.Brown, M. T.; Andrade, J.; Radhakrishna, H.; Donaldson, J. G.; Cooper, J. A.; Randazzo, P. A.: ASAP1, a phospholipid-dependent Arf GTPase-activating protein that associates with and is phosphorylated by Src. Molec. Cell. Biol. 18: 7038-7051, 1998.
[0022840]13428.Olivier, E.; Soury, E.; Risler, J. L.; Smith, F.; Schneider, K.; Lochner, K.; Jouzeau, J. Y.; Fey, G. H.; Salier, J. P.: A novel set of hepatic mRNAs preferentially expressed during an acute inflammation in rat represents mostly intracellular proteins. Genomics 57: 352-364, 1999.
[0022841]13429.Olivier, E.; Soury, E.; Ruminy, P.; Husson, A.; Parmentier, F.; Daveau, M.; Salier, J.-P.: Fetuin-B, a second member of the fetuin family in mammals. Biochem. J. 350: 589-597, 2000.
[0022842]13430.Hampe, J.; Grebe, J.; Nikolaus, S.; Solberg, C.; Croucher, P. J. P.; Mascheretti, S.; Jahnsen, J.; Moum, B.; Klump, B.; Krawczak, M.; Mirza, M. M.; Foelsch, U. R.; Vatn, M.; Schreiber, S.: Association of NOD2 (CARD 15) genotype with clinical course of Crohn's disease: a cohort study. Lancet 359: 1661-1665, 2002.
[0022843]13431.Hugot, J.-P.; Chamaillard, M.; Zouali, H.; Lesage, S.; Cezard, J.-P.; Belaiche, J.; Almer, S.; Tysk, C.; O'Morain, C. A.; Gassull, M.; Binder, V.; Finkel, Y.; and 8 others: Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 411: 599-603, 2001.
[0022844]13432.Murillo, L.; Crusius, J. B. A.; van Bodegraven, A. A.; Alizadeh, B. Z.; Pena, A. S.: CARD15 gene and the classification of Crohn's disease. Immunogenetics 54: 59-61, 2002.
[0022845]13433.Ogura, Y.; Bonen, D. K.; Inohara, N.; Nicolae, D. L.; Chen, F. F.; Ramos, R.; Britton, H.; Moran, T.; Karaliuskas, R.; Duerr, R. H.; Achkar, J.-P.; Brant, S. R.; Bayless, T. M.; Kirschner, B. S.; Hanauer, S. B.; Nunez, G.; Cho, J. H.: A frameshift mutation in Nod2 associated with susceptibility to Crohn's disease. Nature 411: 603-606, 2001.
[0022846]13434.Ogura, Y.; Inohara, N.; Benito, A.; Chen, F. F.; Yamaoka, S.; Nunez, G.: Nod2, a Nod1/Apaf-1 family member that is restricted to monocytes and activates NF-kappa-B. J. Biol. Chem. 276: 4812-4818, 2001.
[0022847]13435.Lesage, S.; Zouali, H.; Cezard, J.-P.; EPWG-IBD Group; Colombel, J.-F.; EPIMAD Group; Belaiche, J.; GETAID Group; Almer, S.; Tysk, C.; O'Morain, C.; Gassull, M.; Binder, V.; Finkel, Y.; Modigliani, R.; Gower-Rousseau, C.; Macry, J.; Merlin, F.; Chamaillard, M.; Jannot, A.-S.; Thomas, G.; Hugot, J.-P.: CARD15/NOD2 mutational analysis and genotype-phenotype correlation in 612 patients with inflammatory bowel disease. Am. J. Hum. Genet. 70: 845-857, 2002.
[0022848]13436.van Heel, D. A.; McGovern, D. P. B.; Cardon, L. R.; Dechairo, B. M.; Lench, N. J.; Carey, A. H.; Jewell, D. P.: Fine mapping of the IBD1 locus did not identify Crohn disease-associated NOD2 variants: implications for complex disease genetics. Am. J. Med. Genet. 111: 253-259, 2002.
[0022849]13437.Vermeire, S.; Wild, G.; Kocher, K.; Cousineau, J.; Dufresne, L.; Bitton, A.; Langelier, D.; Pare, P.; Lapointe, G.; Cohen, A.; Daly, M. J.; Rioux, J. D.: CARD15 genetic variation in a Quebec population: prevalence, genotype-phenotype relationship, and haplotype structure. Am. J. Hum. Genet. 71: 74-83, 2002.
[0022850]13438.Yamazaki, K.; Takazoe, M.; Tanaka, T.; Kazumori, T.; Nakamura, Y.: Absence of mutation in the NOD2/CARD15 gene among 483 Japanese patients with Crohn's disease. J. Hum. Genet. 47: 469-472, 2002.
[0022851]13439.Routhier, E. L.; Burn, T. C.; Abbaszade, I.; Summers, M.; Albright, C. F.; Prendergast, G. C.: Human BIN3 complements the F-actin localization defects caused by loss of Hob3p, the fission yeast homolog of Rvs161p. J. Biol. Chem. 276: 21670-21677, 2001.
[0022852]13440.Fields, R. R.; Zhou, G.; Huang, D.; Davis, J. R.; Moller, C.; Jacobson, S. G.; Kimberling, W. J.; Sumegi, J.: Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations. Am. J. Hum. Genet. 71: 607-617, 2002.
[0022853]13441.Li, B.; Oestreich, S.; de Lange, T.: Identification of human Rap1: implications for telomere evolution. Cell 101: 471-483, 2000.
[0022854]13442.Lieb, J. D.; Liu, X.; Botstein, D.; Brown, P. O.: Promoter-specific binding of Rap1 revealed by genome-wide maps of protein-DNA association. Nature Genet. 28: 327-334, 2001.
[0022855]13443.Honore, B.; Leffers, H.; Madsen, P.; Rasmussen, H. H.; Vandekerckhove, J.; Celis, J. E.: Molecular cloning and expression of a transformation-sensitive human protein containing the TPR motif and sharing identity to the stress-inducible yeast protein STI1. J. Biol. Chem. 267: 8485-8491, 1992.
[0022856]13444.Scheufler, C.; Brinker, A.; Bourenkov, G.; Pegoraro, S.; Moroder, L.; Bartunik, H.; Hartl, F. U.; Moarefi, I.: Structure of TPR domain-peptide complexes: critical elements in the assembly of the Hsp70-Hsp90 multichaperone machine. Cell 101: 199-210, 2000.
[0022857]13445.Slentz-Kesler, K.; Moore, J. T.; Lombard, M.; Zhang, J.; Hollingsworth, R.; Weiner, M. P.: Identification of the human Mnk2 gene (MKNK2) through protein interaction with estrogen receptor beta. Genomics 69: 63-71, 2000.
[0022858]13446.Li, Y.; He, X.; Schembri-King, J.; Jakes, S.; Hayashi, J.: Cloning and characterization of human Lnk, an adaptor protein with pleckstrin homology and Src homology 2 domains that can inhibit T cell activation. J. Immun. 164: 5199-5206, 2000.
[0022859]13447.Takaki, S.; Sauer, K.; Iritani, B. M.; Chien, S.; Ebihara, Y.; Tsuji, K.; Takatsu, K.; Perlmutter, R. M.: Control of B cell production by the adaptor protein Lnk: definition of a conserved family of signal-modulating proteins. Immunity 13: 599-609, 2000.
[0022860]13448.Fiscella, M.; Zhang, H.; Fan, S.; Sakaguchi, K.; Shen, S.; Mercer, W. E.; Vande Woude, G. F.; O'Connor, P. M.; Appella, E.: Wip1, a novel human protein phosphatase that is induced in response to ionizing radiation in a p53-dependent manner. Proc. Nat. Acad. Sci. 94: 6048-6053, 1997.
[0022861]13449.Li, J.; Yang, Y.; Peng, Y.; Austin, R. J.; van Eyndhoven, W. G.; Nguyen, K. C. Q.; Gabriele, T.; McCurrach, M. E.; Marks, J. R.; Hoey, T.; Lowe, S. W.; Powers, S.: Oncogenic properties of PPM1D located within a breast cancer amplification epicenter at 17q23. Nature Genet. 31: 133-134, 2002.
[0022862]13450.Nagase, T.; Seki, N.; Ishikawa, K.; Ohira, M.; Kawarabayasi, Y.; 1. Fiscella, M.; Zhang, H.; Fan, S.; Sakaguchi, K.; Shen, S.; Mercer, W. E.; Vande Woude, G. F.; O'Connor, P. M.; Appella, E.: Wip1, a novel human protein phosphatase that is induced in response to ionizing radiation in a p53-dependent manner. Proc. Nat. Acad. Sci. 94: 6048-6053, 1997.
[0022863]13451.Takaesu, G.; Kishida, S.; Hiyama, A.; Yamaguchi, K.; Shibuya, H.; Irie, K.; Ninomiya-Tsuji, J.; Matsumoto, K.: TAB2, a novel adaptor protein, mediates activation of TAK1 MAPKKK by linking TAK1 to TRAF6 in the IL-1 signal transduction pathway. Molec. Cell 5: 649-658, 2000.
[0022864]13452.Stover, C. M.; Schwaeble, W. J.; Lynch, N. J.; Thiel, S.; Speicher, M. R.: Assignment of the gene encoding mannan-binding lectin-associated serine protease 2 (MASP2) to human chromosome 1p36.3-p36.2 by in situ hybridization and somatic cell hybrid analysis. Cytogenet. Cell Genet. 84: 148-149, 1999.
[0022865]13453.Stover, C. M.; Thiel, S.; Thelen, M.; Lynch, N. J.; Vorup-Jensen, T.; Jensenius, J. C.; Schwaeble, W. J.: Two constituents of the initiation complex of the mannan-binding lectin activation pathway of complement are encoded by a single structural gene. J. Immun. 162: 3481-3490, 1999.
[0022866]13454.Takahashi, M.; Endo, Y.; Fujita, T.; Matsushita, M.: A truncated form of mannosebinding lectin-associated serine protease (MASP)-2 expressed by alternative polyadenylation is a component of the lectin complement pathway. Int. Immun. 11: 859-863, 1999.
[0022867]13455.Thiel, S.; Vorup-Jensen, T.; Stover, C. M.; Schwaeble, W.; Laursen, S. B.; Poulsen, K.; Willis, A. C.; Eggleton, P.; Hansen, S.; Holmskov, U.; Reid, K. B. M.; Jensenius, J. C.: A second serine protease associated with mannan-binding lectin that activates complement. Nature 386: 506-510, 1997.
[0022868]13456.Sundin, O. H.; Yang, J. M.; Li, Y.; Zhu, D.; Hurd, J. N.; Mitchell, T. N.; Silva, E. D.; Maumenee, I. H.: Genetic basis of total colourblindness among the Pingelapese islanders. Nature Genet. 25: 289-293, 2000.
[0022869]13457.Konakova, M.; Huynh, D. P.; Yong, W.; Pulst, S. M.: Cellular distribution of torsin A and torsin B in normal human brain. Arch. Neurol. 58: 921-927, 2001.
[0022870]13458.Conklin, D.; Holderman, S.; Whitmore, T. E.; Maurer, M.; Feldhaus, A. L.: Molecular cloning, chromosome mapping and characterization of UBQLN3 a testis-specific gene that contains an ubiquitin-like domain. Gene 249: 91-98, 2000.
[0022871]13459.Drewes, T.; Senkel, S.; Holewa, B.; Ryffel, G. U.: Human hepatocyte nuclear factor 4 isoforms are encoded by distinct and differentially expressed genes. Molec. Cell. Biol. 16: 925-931, 1996.
[0022872]13460.Taraviras, S.; Mantamadiotis, T.; Dong-Si, T.; Mincheva, A.; Lichter, P.; Drewes, T.; Ryffel, G. U.; Monaghan, A. P.; Schutz, G.: Primary structure, chromosomal mapping, expression and transcriptional activity of murine hepatocyte nuclear factor 4-gamma. Biochim. Biophys. Acta 1490: 21-32, 2000.
[0022873]13461.Seroussi, E.; Kedra, D.; Pan, H.-Q.; Peyrad, M.; Schwartz, C.; Scambler, P.; Donnai, D.; Roe, B. A.; Dumanski, J. P.: Duplications on human chromosome 22 reveal a novel Ret finger protein-like gene family with sense and endogenous antisense transcripts. Genome Res. 9: 803-814, 1999.
[0022874]13462.Blencowe, B. J.; Issner, R.; Nickerson, J. A.; Sharp, P. A.: A coactivator of pre-mRNA splicing. Genes Dev. 12: 996-1009, 1998.
[0022875]13463.Leung, J. C.; Klein, C.; Friedman, J.; Vieregge, P.; Jacobs, H.; Doheny, D.; Kamm, C.; DeLeon, D.; Pramstaller, P. P.; Penney, J. B.; Eisengart, M.; Jankovic, J.; Gasser, T.; Bressman, S. B.; Corey, D. P.; Kramer, P.; Brin, M. F.; Ozelius, L. J.; Breakefield, X. O.: Novel mutation in the TOR1A (DYT1) gene in atypical, early onset dystonia and polymorphisms in dystonia and early onset parkinsonism. Neurogenetics 3: 133-143, 2001.
[0022876]13464.Aihara, Y.; Mashima, H.; Onda, H.; Hisano, S.; Kasuya, H.; Hori, T.; Yamada, S.; Tomura, H.; Yamada, Y.; Inoue, I.; Kojima, I.; Takeda, J.: Molecular cloning of a novel brain-type Na(+)-dependent inorganic phosphate cotransporter. J. Neurochem. 74: 2622-2625, 2000.
[0022877]13465.Bellocchio, E. E.; Reimer, R. J.; Fremeau, R. T., Jr.; Edwards, R. H.: Uptake of glutamate into synaptic vesicles by an inorganic phosphate transporter. Science 289: 957-960, 2000.
[0022878]13466.Ni, B.; Du, Y.; Wu, X.; DeHoff, B. S.; Rosteck, P. R., Jr.; Paul, S. M.: Molecular cloning, expression, and chromosomal localization of a human brain-specific Na(+)-dependent inorganic phosphate cotransporter. J. Neurochem. 66: 2227-2238, 1996.
[0022879]13467.Takamori, S.; Rhee, J. S.; Rosenmund, C.; Jahn, R.: Identification of a vesicular glutamate transporter that defines a glutamatergic phenotype in neurons. Nature 407: 189-194, 2000.
[0022880]13468.Blackwood, D.: P300, a state and a trait marker in schizophrenia. Lancet 355: 771-772, 2000.
[0022881]13469.Blackwood, D. H. R.; Fordyce, A.; Walker, M. T.; St. Clair, D. M.; Porteous, D. J.; Muir, W. J.: Schizophrenia and affective disorders--cosegretation with a translocation at chromosome 1q42 that directly disrupts brain-expressed genes: clinical and P300 findings in a family. Am. J. Hum. Genet. 69: 428-433, 2001.
[0022882]13470.Ekelund, J.; Hovatta, I.; Parker, A.; Paunio, T.; Varilo, T.; Martin, R.; Suhonen, J.; Ellonen, P.; Chan, G.; Sinsheimer, J. S.; Sobel, E.; Juvonen, H.; Arajarvi, R.; Partonen, T.; Suvisaari, J.; Lonnqvist, J.; Meyer, J.; Peltonen, L.: Chromosome 1 loci in Finnish schizophrenia families. Hum. Molec. Genet. 10: 1611-1617, 2001.
[0022883]13471.Millar, J. K.; Wilson-Annan, J. C.; Anderson, S.; Christie, S.; Taylor, M. S.; Semple, C. A. M.; Devon, R. S.; St. Clair, D. M.; Muir, W. J.; Blackwood, D. H. R.; Porteous, D. J.: Disruption of two novel genes by a translocation co-segregating with schizophrenia. Hum. Molec. Genet. 9: 1415-1423, 2000.
[0022884]13472.St. Clair, D.; Blackwood, D.; Muir, W.; Carothers, A.; Walker, M.; Spowart, G.; Gosden, C.; Evans, H. J.: Association within a family of a balanced autosomal translocation with major mental illness. Lancet 336: 13-16, 1990.
[0022885]13473.Bulfone, A.; Menguzzato, E.; Broccoli, V.; Marchitiello, A.; Gattuso, C.; Mariani, M.; Consalez, G. G.; Martinez, S.; Ballabio, A.; Banfi, S.: Barhl1, a gene belonging to a new subfamily of mammalian homeobox genes, is expressed in migrating neurons of the CNS. Hum. Molec. Genet. 9: 1443-1452, 2000.
[0022886]13474.Alessi, D. R.; Deak, M.; Casamayor, A.; Caudwell, F. B.; Morrice, N.; Norman, D. G.; Gaffney, P.; Reese, C. B.; MacDougall, C. N.; Harbison, D.; Ashworth, A.; Bownes, M.: 3-phosphoinositide-dependent protein kinase-1 (PDK1): structural and functional homology with the Drosophila DSTPK61 kinase. Curr. Biol. 7: 776-789, 1997.
[0022887]13475.Boucher, C. A.; King, S. K.; Carey, N.; Krahe, R.; Winchester, C. L.; Rahman, S.; Creavin, T.; Meghji, P.; Bailey, M. E. S.; Chartier, F. L.; Brown, S. D.; Siciliano, M. J.; Johnson, K. J.: A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat. Hum. Molec. Genet. 4: 1919-1925, 1995.
[0022888]13476.Carango, P.; Noble, J. E.; Marks, H. G.; Funanage, V. L.: Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy. Genomics 18: 304-348, 1993.
[0022889]13477.Fu, Y.-H.; Friedman, D. L.; Richards, S.; Pearlman, J. A.; Gibbs, R. A.; Pizzuti, A.; Ashizawa, T.; Perryman, M. B.; Scarlato, G.; Fenwick, R. G., Jr.; Caskey, C. T.: Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy. Science 260: 235-238, 1993.
[0022890]13478.Groenen, P. J. T. A.; Wansink, D. G.; Coerwinkel, M.; van den Broek, W.; Jansen, G.; Wieringa, B.: Constitutive and regulated modes of splicing produce six major myotonic dystrophy protein kinase (DMPK) isoforms with distinct properties. Hum. Molec. Genet. 9: 605-616, 2000.
[0022891]13479.Jansen, G.; Bartolomei, M.; Kalscheuer, V.; Merkx, G.; Wormskamp, N.; Mariman, E.; Smeets, D.; Ropers, H.-H.; Wieringa, B.: No imprinting involved in the expression of DM-kinase mRNAs in mouse and human tissues. Hum. Molec. Genet. 2: 1221-1227, 1993.
[0022892]13480.Mahadevan, M. S.; Amemiya, C.; Jansen, G.; Sabourin, L.; Baird, S.; Neville, C. E.; Wormskamp, N.; Segers, B.; Batzer, M.; Lamerdin, J.; de Jong, P.; Wieringa, B.; Korneluk, R. G.: Structure and genomic sequence of the myotonic dystrophy (DM kinase) gene. Hum. Molec. Genet. 2: 299-304, 1993.
[0022893]13481.Roses, A. D.; Appel, S. H.: Muscle membrane protein kinase in myotonic muscular dystrophy. Nature 250: 245-247, 1974.
[0022894]13482.Shaw, D. J.; McCurrach, M.; Rundle, S. A.; Harley, H. G.; Crow, S. R.; Sohn, R.; Thirion, J.-P.; Hamshere, M. G.; Buckler, A. J.; Harper, P. S.; Housman, D. E.; Brook, J. D.: Genomic organization and transcriptional units at the myotonic dystrophy locus. Genomics 18: 673-679, 1993.
[0022895]13483.Jansen, G.; Mahadevan, M.; Amemiya, C.; Wormskamp, N.; Segers, B.; Hendriks, W.; O'Hoy, K.; Baird, S.; Sabourin, L.; Lennon, G.; Jap, P. L.; Iles, D.; Coerwinkel, M.; Hofker, M.; Carrano, A. V.; de Jong, P. J.; Korneluk, R. G.; Wieringa, B.: Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs. Nature Genet. 1: 261-266, 1992.
[0022896]13484.Seznec, H.; Agbulut, O.; Sergeant, N.; Savouret, C.; Ghestem, A.; Tabti, N.; Willer, J.-C.; Ourth, L.; Duros, C.; Brisson, E.; Fouquet, C.; Butler-Browne, G.; Delacourte, A.; Junien, C.; Gourdon, G.: Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities. Hum. Molec. Genet. 10: 2717-2726, 2001.
[0022897]13485.van den Broek, W. J. A. A.; Nelen, M. R.; Wansink, D. G.; Coerwinkel, M. M.; te Riele, H.; Groenen, P. J. T. A.; Wieringa, B.: Somatic expansion behaviour of the (CTG)n repeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins. Hum. Molec. Genet. 11: 191-198, 2002.
[0022898]13486.van der Ven, P. F. M.; Jansen, G.; van Kuppevelt, T. H. M. S. M.; Perryman, M. B.; Lupa, M.; Dunne, P. W.; ter Laak, H. J.; Jap, P. H. K.; Veerkamp, J. H.; Epstein, H. F.; Wieringa, B.: Myotonic dystrophy kinase is a component of neuromuscular junctions. Hum. Molec. Genet. 2: 1889-1894, 1993.
[0022899]13487.Wang, J.; Pegoraro, E.; Menegazzo, E.; Gennarelli, M.; Hoop, R. C.; Angelini, C.; Hoffman, E. P.: Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation. Hum. Molec. Genet. 4: 599-606, 1995.
[0022900]13488.Wang, Y.-H.; Amirhaeri, S.; Kang, S.; Wells, R. D.; Griffith, J. D.: Preferential nucleosome assembly at DNA triplet repeats from the myotonic dystrophy gene. Science 265: 669-671, 1994.
[0022901]13489.Wang, Y.-H.; Griffith, J.: Expanded CTG triplet blocks from the myotonic dystrophy gene create the strongest known natural nucleosome positioning elements. Genomics 25: 570-573, 1995.
[0022902]13490.Wochner, R. D.; Drews, G.; Strober, W.; Waldmann, T. A.: Accelerated breakdown of immunoglobulin G (IgG) in myotonic dystrophy: a hereditary error of immunoglobulin catabolism. J. Clin. Invest. 45: 321-329, 1966.
[0022903]13491.Wong, L.-J. C.; Ashizawa, T.; Monckton, D. G.; Caskey, C. T.; Richards, C. S.: Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent. Am. J. Hum. Genet. 56: 114-122, 1995.
[0022904]13492.Zhang, Y.; Monckton, D. G.; Siciliano, M. J.; Connor, T. H.; Meistrich, M. L.: Age and insertion site dependence of repeat number instability of a human DM1 transgene in individual mouse sperm. Hum. Molec. Genet. 11: 791-798, 2002.
[0022905]13493.Bertin, J.; Nir, W.-J.; Fischer, C. M.; Tayber, O. V.; Errada, P. R.; Grant, J. R.; Keilty, J. J.; Gosselin, M. L.; Robison, K. E.; Wong, G. H. W.; Glucksmann, M. A.; DiStefano, P. S.: Human CARD4 protein is a novel CED-4/Apaf-1 cell death family member that activates NF-kappa-B. J. Biol. Chem. 274: 12955-12958, 1999.
[0022906]13494.Cohen, D. E.; Green, R. M.; Wu, M. K.; Beier, D. R.: Cloning, tissue-specific expression, gene structure and chromosomal localization of human phosphatidylcholine transfer protein. Biochim. Biophys. Acta 1447: 265-270, 1999.
[0022907]13495.van Helvoort, A.; de Brouwer, A.; Ottenhoff, R.; Brouwers, J. F. H. M.; Wijnholds, J.; Beijnen, J. H.; Rijneveld, A.; van der Valk, M. A.; Majoor, D.; Voorhout, W.; Wirtz, K. W. A.; Elferink, R. P. J. O.; Borst, P.: Mice without phosphatidylcholine transfer protein have no defects in the secretion of phosphatidylcholine into bile or into lung airspaces. Proc. Nat. Acad. Sci. 96: 11501-11506, 1999.
[0022908]13496.de Rooij, J.; Zwartkruis, F. J. T.; Verheijen, M. H. G.; Cool, R. H.; Nijman, S. M. B.; Wittinghofer, A.; Bos, J. L.: Epac is a Rap1 guanine-nucleotide-exchange factor directly activated by cyclic AMP. Nature 396: 474-477, 1998.
[0022909]13497.Kawasaki, H.; Springett, G. M.; Mochizuki, N.; Toki, S.; Nakaya, M.; Matsuda, M.; Housman, D. E.; Graybiel, A. M.: A family of cAMP-binding proteins that directly activate Rap1. Science 282: 2275-2279, 1998.
[0022910]13498.Olsen, S. R.; Uhler, M. D.: Inhibition of protein kinase-A by overexpression of the cloned human protein kinase inhibitor. Molec. Endocr. 5: 1246-1256, 1991.
[0022911]13499.Hahn, Y.; Lee, J.; Seong, C.; Yoon, J.; Chung, J. H.: Structural analysis of phylogenetically conserved J domain protein gene. Biochim. Biophys. Acta 1447: 325-333, 1999.
[0022912]13500.Eberhart, C. G.; Maines, J. Z.; Wasserman, S. A.: Meiotic cell cycle requirement for a fly homologue of human Deleted in Azoospermia. Nature 381: 783-785, 1996.
[0022913]13501.Rugglu, M.; Speed, R.; Taggart, M.; McKay, S. J.; Kilanowski, F.; Saunders, P.; Derin, J.; Cooke, H. J.: The mouse Dazla gene encodes a cytoplasmic protein essential for gametogenesis. Nature 389: 73-77, 1997.
[0022914]13502.Shan, Z.; Hirschmann, P.; Seebacher, T.; Edelmann, A.; Jauch, A.; Morell, J.; Urbitsch, P.; Vogt, P. H.: A SPGY copy homologous to the mouse gene Dazla and the Drosophila gene boule is autosomal and expressed only in the human male gonad. Hum. Molec. Genet. 5: 2005-2011, 1996.
[0022915]13503.Slee, R.; Grimes, B.; Speed, R. M.; Taggart, M.; Maguire, S. M.; Ross, A.; McGill, N. I.; Saunders, P. T. K.; Cooke, H. J.: A human DAZ transgene confers partial rescue of the mouse Daz1 null phenotype. Proc. Nat. Acad. Sci. 96: 8040-8045, 1999.
[0022916]13504.Yen, P. H.; Chai, N. N.; Salido, E. C.: The human autosomal gene DAZLA: testis specificity and a candidate for male infertility. Hum. Molec. Genet. 5: 2013-2017, 1996.
[0022917]13505.Akiyama, T. E.; Sakai, S.; Lambert, G.; Nicol, C. J.; Matsusue, K.; Pimprale, S.; Lee, Y.-H.; Ricote, M.; Glass, C. K.; Brewer, H. B., Jr.; Gonzalez, F. J.: Conditional disruption of the peroxisome proliferator-activated receptor gamma gene in mice results in lowered expression of ABCA1, ABCG1, and apoE in macrophages and reduced cholesterol efflux. Molec. Cell. Biol. 22: 2607-2619, 2002.
[0022918]13506.Ardlie, K. G.; Lunetta, K. L.; Seielstad, M.: Testing for population subdivision and association in four case-control studies. Am. J. Hum. Genet. 71: 304-311, 2002.
[0022919]13507.Barak, Y.; Nelson, M. C.; Ong, E. S.; Jones, Y. Z.; Ruiz-Lozano, P.; Chien, K. R.; Koder, A.; Evans, R. M.: PPAR-gamma is required for placental, cardiac, and adipose tissue development. Molec. Cell 4: 585-595, 1999.
[0022920]13508.Barroso, I.; Gurnell, M.; Crowley, V. E. F.; Agostini, M.; Schwabel, J. W.; Soos, M. A.; Masien, G. L.; Williams, T. D. M.; Lewis, H.; Schafer, A. J.; Chatterjee, V. K. K.; O'Rahilly, S.: Dominant negative mutations in human PPAR-gamma associated with severe insulin resistance, diabetes mellitus and hypertension. Nature 402: 880-883, 1999.
[0022921]13509.Beamer, B. A.; Yen, C.-J.; Andersen, R. E.; Muller, D.; Elahi, D.; Cheskin, L. J.; Andres, R.; Roth, J.; Shuldiner, A. R.: Association of the pro12ala variant in the peroxisome proliferatoractivated receptor-gamma-2 gene with obesity in two Caucasian populations. Diabetes 47: 1806-1808, 1998.
[0022922]13510.Beamer, B. A.; Negri, C.; Yen, C.-J.; Gavrilova, O.; Rumberger, J. M.; Durcan, M. J.; Yarnall, D. P.; Hawkins, A. L.; Griffin, C. A.; Burns, D. K.; Roth, J.; Reitman, M.; Shuldiner, A. R.: Chromosomal localization and partial genomic structure of the human peroxisome proliferator activated receptor-gamma (hPPAR-gamma) gene. Biochem. Biophys. Res. Commun. 233: 756-759, 1997.
[0022923]13511.Chawla, A.; Boisvert, W. A.; Lee, C.-H.; Laffitte, B. A.; Barak, Y.; Joseph, S. B.; Liao, D.; Nagy, L.; Edwards, P. A.; Curtiss, L. K.; Evans, R. M.; Tontonoz, P.: A PPAR-gamma-LXR-ABCA1 pathway in macrophages is involved in cholesterol efflux and atherogenesis. Molec. Cell 7: 161-171, 2001.
[0022924]13512.Deeb, S. S.; Fajas, L.; Nemoto, M.; Pihlajamaki, J.; Mykkanen, L.; Kuusisto, J.; Laakso, M.; Fujimoto, W.; Auwerx, J.: A pro12ala substitution in PPAR-gamma-2 associated with decreased receptor activity, lower body mass index and improved insulin sensitivity. Nature Genet. 20: 284-287, 1998.
[0022925]13513.Elbrecht, A.; Chen, Y.; Cullinan, C. A.; Hayes, N.; Leibowitz, M. D.; Moller, D. E.; Berger, J.: Molecular cloning, expression and characterization of human peroxisome proliferator activated receptors gamma-1 and gamma-2. Biochem. Biophys. Res. Commun. 224: 431-437, 1996.
[0022926]13514.Fajas, L.; Auboeuf, D.; Raspe, E.; Schoonjans, K.; Lefebvre, A. M.; Saladin, R.; Najib, J.; Laville, M.; Fruchart, J.-C.; Deeb, S.; Vidal-Puig, A.; Flier, J.; Briggs, M. R.; Staels, B.; Vidal, H.; Auwerx, J.: The organization, promoter analysis, and expression of the human PPAR-gamma gene. J. Biol. Chem. 272: 18779-18789, 1997.
[0022927]13515.Gampe, R. T., Jr.; Montana, V. G.; Lambert, M. H.; Miller, A. B.; Bledsoe, R. K.; Milburn, M. V.; Kliewer, S. A.; Willson, T. M.; Xu, H. E.: Asymmetry in the PPAR-gamma/RXR-alpha crystal structure reveals the molecular basis of heterodimerization among nuclear receptors. Molec. Cell 5: 545-555, 2000.
[0022928]13516.Koths, K.; Taylor, E.; Halenbeck, R.; Casipit, C.; Wang, A.: Cloning and characterization of a human Mac-2-binding protein, a new member of the superfamily defined by the macrophage scavenger receptor cysteine-rich domain. J. Biol. Chem. 268: 14245-14249, 1993.
[0022929]13517.Ullrich, A.; Sures, I.; D'Egidio, M.; Jallal, B.; Powell, T. J.; Herbst, R.; Dreps, A.; Azam, M.; Rubinstein, M.; Natoli, C.; Shawver, L. K.; Schlessinger, J.; Iacobelli, S.: The secreted tumorassociated antigen 90K is a potent immune stimulator. J. Biol. Chem. 269: 18401-18407, 1994.
[0022930]13518.Chakraborti, A.; Lippman, D. L.; Loh, H. H.; Kozak, C. A.; Lee, N. M.: Genetic mapping of opioid binding protein gene(s) to mouse chromosome 9. Mammalian Genome 4: 179-182, 1993.
[0022931]13519.Cho, T. M.; Hasegawa, J.-I.; Ge, B.-l.; Loh, H. H.: Purification to apparent homogeneity of a mu-type opioid receptor from rat brain. Proc. Nat. Acad. Sci. 83: 4138-4142, 1986.
[0022932]13520.Shark, K. B.; Lee, N. M.: Cloning, sequencing and localization to chromosome 11 of a cDNA encoding a human opioid-binding cell adhesion molecule (OBCAM). Gene 155: 213-217, 1995.
[0022933]13521.Burmeister, M.; Meyer, G. E.: The trefoil gene maps to mouse chromosome 17. Mammalian Genome 8: 223-224, 1997.
[0022934]13522.Chinery, R.; Williamson, J.; Poulsom, R.: The gene encoding human intestinal trefoil factor (TFF3) is located on chromosome 21q22.3 clustered with other members of the trefoil peptide family. Genomics 32: 281-284, 1996.
[0022935]13523.Mashimo , H.; Wu, D.-C.; Podolsky, D. K.; Fishman, M. C.: Impaired defense of intestinal mucosa in mice lacking intestinal trefoil factor. Science 274: 262-265, 1996.
[0022936]13524.Podolsky, D. K.; Lynch-Devaney, K.; Stow, J. L.; Oates, P.; Murgue, B.; DeBeaumont, M.; Sands, B. E.; Mahida, Y. R.: Identification of human intestinal trefoil factor: goblet cell-specific expression of a peptide targeted for apical secretion. J. Biol. Chem. 268: 6694-6702, 1993.
[0022937]13525.Probst, J. C.; Zetzsche, T.; Weber, M.; Theilemann, P.; Skutella, T.; Landgraf, R.; Jirikowski, G. F.: Human intestinal trefoil factor is expressed in human hypothalamus and pituitary: evidence for a novel neuropeptide. FASEB J. 10: 1518-1523, 1996.
[0022938]13526.Schmitt, H.; Wundrack, I.; Beck, S.; Gott, P.; Welter, C.; Shizuya, H.; Simon, M. I.; Blin, N.: A third P-domain peptide gene (TFF3), human intestinal trefoil factor, maps to 21q22.3. Cytogenet. Cell Genet. 72: 299-302, 1996.
[0022939]13527.Taupin, D.; Wu, D.-C.; Jeon, W.-K.; Devaney, K.; Wang, T. C.; Podolsky, D. K.: The trefoil gene family are coordinately expressed immediate-early genes: EGF receptor- and MAP kinasedependent interregulation. J. Clin. Invest. 103: R31-R38, 1999.
[0022940]13528.Thim, L.: A new family of growth factor-like peptides: 'trefoil' disulphide loop structures as a common feature in breast cancer associated peptide (pS2), pancreatic spasmolytic polypeptide (PSP), and frog skin peptides (spasmolysins). FEBS Lett. 250: 85-90, 1989.
[0022941]13529.Chen, Y.; Struhl, G.: Dual roles for Patched in sequestering and transducing Hedgehog. Cell 87: 553-563, 1996.
[0022942]13530.McIntire, J. J.; Umetsu, S. E.; Akbari, O.; Potter, M.; Kuchroo, V. K.; Barsh, G. S.; Freeman, G. J.; Umetsu, D. T.; DeKruyff, R. H. : Identification of Tapr (an airway hyperreactivity regulatory locus) and the linked Tim gene family. Nature Immun. 2: 1109-1116, 2001.
[0022943]13531.Alvarez, R. A.; Ghalayini, A. J.; Xu, P.; Hardcastle, A.; Bhattacharya, S.; Rao, P. N.; Pettenati, M. J.; Anderson, R. E.; Baehr, W.: cDNA sequence and gene locus of the human retinal phosphoinositide-specific phospholipase-C-beta-4 (PLCB4). Genomics 29: 53-61, 1995.
[0022944]13532.Hwang, B. J.; Ford, J. M.; Hanawalt, P. C.; Chu, G.: Expression of the p48 xeroderma pigmentosum gene is p53-dependent and is involved in global genomic repair. Proc. Nat. Acad. Sci. 96: 424-428, 1999.
[0022945]13533.Tahir, S. A.; Yang, G.; Ebara, S.; Timme, T. L.; Satoh, T.; Li, L.; Goltsov, A.; Ittmann, M.; Morrisett, J. D.; Thompson, T. C.: Secreted caveolin-1 stimulates cell survival/clonal growth and contributes to metastasis in androgen-insensitive prostate cancer. Cancer Res. 61: 3882-3885, 2001.
[0022946]13534.England, S. K.; Uebele, V. N.; Kodali, J.; Bennett, P. B.; Tamkun, M. M.: A novel K+ channel beta-subunit (hKv-beta-1.3) is produced via alternative mRNA splicing. J. Biol. Chem. 270: 28531-28534, 1995.
[0022947]13535.Kratz, C. P.; Emerling, B. M.; Bonifas, J.; Wang, W.; Green, E. D.; Le Beau, M. M.; Shannon, K. M.: Genomic structure of the PIK3CG gene on chromosome band 7q22 and evaluation as a candidate myeloid tumor suppressor. Blood 99: 372-374, 2002.
[0022948]13536.Duggan, D. J.; Manchester, D.; Stears, K. P.; Mathews, D. J.; Hart, C.; Hoffman, E. P.: Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2). Neurogenetics 1: 49-58, 1997.
[0022949]13537.Jung, D.; Duclos, F.; Apostol, B.; Straub, V.; Lee, J. C.; Allamand, V.; Venzke, D. P.; Sunada, Y.; Moomaw, C. R.; Leveille, C. J.; Slaughter, C. A.; Crawford, T. O.; McPherson, J. D.; Campbell, K. P.: Characterization of delta-sarcoglycan, a novel component of the oligomeric sarcoglycan complex involved in limb-girdle muscular dystrophy. J. Biol. Chem. 271: 32321-32329, 1996.
[0022950]13538.Kawada, T.; Nakazawa, M.; Nakauchi, S.; Yamazaki, K.; Shimamoto, R.; Urabe, M.; Nakata, J.; Hemmi, C.; Masui, F.; Nakajima, T.; Suzuki, J.-I.; Monahan, J.; Sato, H.; Masaki, T.; Ozawa, K.; Toyo-oka, T. : Rescue of hereditary form of dilated cardiomyopathy by rAAV-mediated somatic gene therapy: amelioration of morphological findings, sarcolemmal permeability, cardiac performances, and the prognosis of TO-2 hamsters. Proc. Nat. Acad. Sci. 99: 901-906, 2002.
[0022951]13539.Nigro, V.; Okazaki, Y.; Belsito, A.; Piluso, G.; Matsuda, Y.; Politano, L.; Nigro, G.; Ventura, C.; Abbondanza, C.; Molinari, A. M.; Acampora, D.; Nishimura, M.; Hayashizaki, Y.; Puca, G. A.: Identification of the Syrian hamster cardiomyopathy gene. Hum. Molec. Genet. 6: 601-607, 1997.
[0022952]13540.Nigro, V.; Piluso, G.; Belsito, A.; Politano, L.; Puca, A. A.; Papparella, S.; Rossi, E.; VIglietto, G.; Esposito, M. G.; Abbondanza, C.; Medici, N.; Molinari, A. M.; Nigro, G.; Puca, G. A.: Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein. Hum. Molec. Genet. 5: 1179-1186, 1996.
[0022953]13541.Okazaki, Y.; Okuizumi, H.; Ohsumi, T.; Nomura, O.; Takada, S.; Kamiya, M.; Sasaki, N.; Matsuda, Y.; Nishimura, M.; Tagaya, O.; Muramatsu, M.; Hayashizaki, Y.: A genetic linkage map of the Syrian hamster and localization of cardiomyopathy locus on chromosome 9qa2.1-b1 using RLGS spot-mapping. Nature Genet. 13: 87-90, 1996.
[0022954]13542.Ahmad, W.; Li, S.; Chen, H.; Tuck-Muller, C. M.; Pittler, S. J.; Aronson, N. N., Jr.: Lysosomal chitobiase (CTB) and the G-protein gamma-5 subunit (GNG5) genes co-localize to human chromosome 1p22. Cytogenet. Cell Genet. 71: 44-46, 1995.
[0022955]13543.Fisher, K. J.; Aronson, N. N.: Characterization of the cDNA and genomic sequence of a G protein gamma subunit (gamma-5). Molec. Cell Biol. 12: 1585-1591, 1992.
[0022956]13544.Fiaschi, T.; Marzella, R.; Veggi, D.; Marzocchini, R.; Raugei, G.; Rocchi, M.; Ramponi, G.: Assignment of the human erythrocyte acylphosphatase gene (ACYP1) to chromosome band 14q24.3. Cytogenet. Cell Genet. 81: 235-236, 1998.
[0022957]13545.Fiaschi, T.; Raugei, G.; Marzocchini, R.; Chiarugi, P.; Cirri, P.; Ramponi, G.: Cloning and expression of the cDNA coding for the erythrocyte isoenzyme of human acylphosphatase. FEBS Lett. 367: 145-148, 1995.
[0022958]13546.Goldowitz, D.; Smeyne, R. J.: Tune into the weaver channel. Nature Genet. 11: 107-109, 1995.
[0022959]13547.Hess, E. J.: Identification of the weaver mouse mutation: the end of the beginning. Neuron 16: 1073-1076, 1996.
[0022960]13548.Lane, P. W.: New mutation: Weaver, wv. Mouse News Letter 32-33, 1964.
[0022961]13549.Lesage, F.; Duprat, F.; Fink, M.; Guillemare, E.; Coppola, T.; Lazdunski, M.; Hugnot, J.-P.: Cloning provides evidence for a family of inward rectifier and G-protein coupled K(+) channels in the brain. FEBS Lett. 353: 37-42, 1994.
[0022962]13550.Rakic, P.; Sidman, R. L.: Sequence of developmental abnormalities leading to granule cell deficit in cerebellar cortex of weaver mutant mice. J. Comp. Neurol. 152: 103-132, 1973.
[0022963]13551.Sakura, H.; Bond, C.; Warren-Perry, M.; Horsley, S.; Kearney, L.; Tucker, S.; Adelman, J.; Turner, R.; Ashcroft, F. M.: Characterization and variation of a human inwardly-rectifying K-channel gene (KCNJ6): a putative ATP-sensitive K-channel subunit. FEBS Lett. 367: 193-197, 1995.
[0022964]13552.Tsaur, M.-L.; Menzel, S.; Lai, F.-P.; Espinosa, R., III; Concannon, P.; Spielman, R. S.; Hanis, C. L.; Cox, N. J.; Le Beau, M. M.; German, M. S.; Jan, L. Y.; Bell, G. I.; Stoffel, M.: Isolation of a cDNA clone encoding a K(ATP) channel-like protein expressed in insulin-secreting cells, localization of the human gene to chromosome band 21q22.1 and linkage studies with NIDDM. Diabetes 44: 592-596, 1995.
[0022965]13553.Yasuda, K.; Sakura, H.; Mori, Y.; Iwamoto, K.; Shimokawa, K.; Kadowaki, H.; Hagura, R.; Akanuma, Y.; Adelman, J. P.; Yazaki, Y.; Ashcroft, F. M.; Kadowaki, T.: No evidence for mutations in a putative subunit of the beta-cell ATP-sensitive potassium channel (K-ATP channel) in Japanese NIDDM patients. Biochem. Biophys. Res. Commun. 211: 1036-1040, 1995.
[0022966]13554.Efiok, B. J. S.; Chiorini, J. A.; Safer, B.: A key transcription factor for eukaryotic initiation factor-2-alpha is strongly homologous to developmental transcription factors and may link metabolic genes to cellular growth and development. J. Biol. Chem. 269: 18921-18930, 1994.
[0022967]13555.Gopalakrishnan, L.; Scarpulla, R. C.: Structure, expression, and chromosomal assignment of the human gene encoding nuclear respiratory factor 1. J. Biol. Chem. 270: 18019-18025, 1995.
[0022968]13556.Spelbrink, J. N.; Van den Bogert, C.: The pre-mRNA of nuclear respiratory factor 1, a regulator of mitochondrial biogenesis, is alternatively spliced in human tissues and cell lines. Hum. Molec. Genet. 4: 1591-1596, 1995.
[0022969]13557.Tiranti, V.; Rossi, E.; Rocchi, M.; DiDonato, S.; Zuffardi, O.; Zeviani, M.: The gene (NFE2L1) for human NRF-1, an activator involved in nuclear-mitochondrial interactions, maps to 7q32. Genomics 27: 555-557, 1995.
[0022970]13558.Ohshiro, T.; Yagami, T.; Zhang, C.; Matsuzaki, F.: Role of cortical tumour-suppressor proteins in asymmetric division of Drosophila neuroblast. Nature 408: 593-596, 2000.
[0022971]13559.Peng, C.-Y.; Manning, L.; Albertson, R.; Doe, C. Q.: The tumour-suppressor genes lgl and dlg regulate basal protein targeting in Drosophila neuroblasts. Nature 408: 596-600, 2000.
[0022972]13560.Strand, D.; Unger, S.; Corvi, R.; Hartenstein, K.; Schenkel, H.; Kalmes, A.; Merdes, G.; Neumann, B.; Krieg-Schneider, F.; Coy, J. F.; Poustka, A.; Schwab, M.; Mechler B. M.: A human homologue of the Drosophila tumour suppressor gene l(2)gl maps to 17p11.2-12 and codes for a cytoskeletal protein that associates with nonmuscle myosin II heavy chain. Oncogene 11: 291-301, 1995.
[0022973]13561.Timchenko, L. T.; Miller, J. W.; Timchenko, N. A.; DeVore, D. R.; Datar, K. V.; Lin, L.; Roberts, R.; Caskey, C. T.; Swanson, M. S. : Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy. Nucleic Acids Res. 24: 4407-4414, 1996.
[0022974]13562.Timchenko, L. T.; Timchenko, N. A.; Caskey, C. T.; Roberts, R. : Novel proteins with binding specificity for DNA CTG repeats and RNA CUG repeats: implications for myotonic dystrophy. Hum. Molec. Genet. 5: 115-121, 1996.
[0022975]13563.Roelfsema, J. H.; Spruit, L.; Saris, J. J.; Chang, P.; Pirson, Y.; van Ommen, G.-J. B.; Peters, D. J. M.; Breuning, M. H.: Mutation detection in the repeated part of the PKD1 gene. Am. J. Hum. Genet. 61: 1044-1052, 1997.
[0022976]13564.Rossetti, S.; Strmecki, L.; Gamble, V.; Burton, S.; Sneddon, V.; Peral, B.; Roy, S.; Bakkaloglu, A.; Komel, R.; Winearls, C. G.; Harris, P. C.: Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications. Am. J. Hum. Genet. 68: 46-63, 2001.
[0022977]13565.Scheffers, M. S.; van der Bent, P.; Prins, F.; Spruit, L.; Breuning, M. H.; Litvinov, S. V.; de Heer, E.; Peters, D. J. M.: Polycystin-1, the product of the polycystic kidney disease 1 gene, colocalizes with desmosomes in MDCK cells. Hum. Molec. Genet. 9: 2743-2750, 2000.
[0022978]13566.Simon, P.; Le Goff, J.-Y.; Ang, K. S.; Charasse, C.; Le Cacheux, P.; Cam, G.: Donnees epidemiologiques, cliniques et pronostiques de la maladie polykystique autosomique dominante dans une region francaise. Nephrologie 17: 123-130, 1996.
[0022979]13567.Terada, T.; Nakanuma, Y.: Congenital biliary dilatation in autosomal dominant adult polycystic disease of the liver and kidneys. Arch. Path. Lab. Med. 112: 1113-1116, 1988. 76. Trent, R. J.; Wallace, R. C.: Alpha thalassaemia: a potential source of error in DNA linkage studies for adult polycystic kidney disease. J. Med. Genet. 26: 6-9, 1989.
[0022980]13568.Thomas, R.; McConnell, R.; Whittacker, J.; Kirkpatrick, P.; Bradley, J.; Sandford, R.: Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR. Am. J. Hum. Genet. 65: 39-49, 1999.
[0022981]13569.Watnick, T.; Phakdeekitcharoen, B.; Johnson, A.; Gandolph, M.; Wang, M.; Briefel, G.; Klinger, K. W.; Kimberling, W.; Gabow, P.; Germino, G. G.: Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease. Am. J. Hum. Genet. 65: 1561-1571, 1999.
[0022982]13570.Watnick, T. J.; Gandolph, M. A.; Weber, H.; Neumann, H. P. H.; Germino, G. G.: Gene conversion is a likely cause of mutation in PKD1. Hum. Molec. Genet. 7: 1239-1243, 1998.
[0022983]13571.Watnick, T. J.; Piontek, K. B.; Cordal, T. M.; Weber, H.; Gandolph, M. A.; Qian, F.; Lens, X. M.; Neumann, H. P. H.; Germino, G. G.: An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection. Hum. Molec. Genet. 6: 1473-1481, 1997.
[0022984]13572.Watnick, T. J.; Torres, V. E.; Gandolph, M. A.; Qian, F.; Onuchic, L. F.; Klinger, K. W.; Landes, G.; Germino, G. G.: Somatic mutation in individual liver cysts supports a two-hit model of cystogenesis in autosomal dominant polycystic kidney disease. Molec. Cell 2: 247-251, 1998.
[0022985]13573.Wary, K. K.; Mariotti, A.; Zurzolo, C.; Giancotti, F. G.: A requirement for caveolin-1 and associated kinase Fyn in integrin signaling and anchorage-dependent cell growth. Cell 94: 625-634, 1998.
[0022986]13574.Yang, G.; Truong, L. D.; Timme, T. L.; Ren, C.; Wheeler, T. M.; Park, S. H.; Nasu, Y.; Bangma, C. H.; Kattan, M. W.; Scardino, P. T.; Thompson, T. C.: Elevated expression of caveolin is associated with prostate and breast cancer. Clin. Cancer Res. 4: 1873-1880, 1998.
[0022987]13575.Sweadner, K. J.; Rael, E.: The FXYD gene family of small ion transport regulators or channels: cDNA sequence, protein signature sequence, and expression. Genomics 68: 41-56, 2000.
[0022988]13576.Matsuoka, S.; Edwards, M. C.; Bai, C.; Parker, S.; Zhang, P.; Baldini, A.; Harper, J. W.; Elledge, S. J.: p57(KIP2), a structurally distinct member of the p21(CIP1) Cdk inhibitor family, is a candidate tumor suppressor gene. Genes Dev. 9: 650-662, 1995.
[0022989]13577.Matsuoka, S.; Thompson, J. S.; Edwards, M. C.; Barletta, J. M.; Grundy, P.; Kalikin, L. M.; Harper, J. W.; Elledge, S. J.; Feinberg, A. P.: Imprinting of the gene encoding a human cyclindependent kinase inhibitor, p57(KIP2), on chromosome 11p15. Proc. Nat. Acad. Sci. 93: 3026-3030, 1996.
[0022990]13578.O'Keefe, D.; Dao, D.; Zhao, L.; Sanderson, R.; Warburton, D.; Weiss, L.; Anyane-Yeboa, K.; Tycko, B.: Coding mutations in p57(KIP2) are present in some cases of Beckwith-Wiedemann syndrome but are rare or absent in Wilms tumors. Am. J. Hum. Genet. 61: 295-303, 1997.
[0022991]13579.Tokino, T.; Urano, T.; Furuhata, T.; Matsushima, M.; Miyatsu, T.; Sasaki, S.; Nakamura, Y.: Characterization of the human p57(KIP2) gene: alternative splicing, insertion/deletion polymorphisms in VNTR sequences in the coding region, and mutational analysis. Hum. Genet. 97: 625-631, 1996.
[0022992]13580.Zhang, P.; Leigeois, N. J.; Wong, C.; Finegold, M.; Hou, H.; Thompson, J. C.; Silverman, A.; Harper, J. W.; DePinho, R. A.; Elledge, S. J. : Altered cell differentiation and proliferation in mice lacking p57(KIP2) indicates a role in Beckwith-Wiedemann syndrome. Nature 387: 151-158, 1997.
[0022993]13581.Hirai, H.; Roussel, M. F.; Kato, J.-Y.; Ashmun, R. A.; Sherr, C. J.: Novel INK4 proteins, p19 and p18, are specific inhibitors of cyclin D-dependent kinases CDK4 and CDK6. Molec. Cell. Biol. 15: 2672-2681, 1995.
[0022994]13582.Okuda, T.; Hirai, H.; Valentine, V. A.; Shurtleff, S. A.; Kidd, V. J.; Lahti, J. M.; Sherr, C. J.; Downing, J. R.: Molecular cloning, expression pattern, and chromosomal localization of human CDKN2D/INK4d, an inhibitor of cyclin D-dependent kinases. Genomics 29: 623-630, 1995.
[0022995]13583.Vyas, P.; Vickers, M. A.; Picketts, D. J.; Higgs, D. R.: Conservation of position and sequence of a novel, widely expressed gene containing the major human alpha-globin regulatory element. Genomics 29: 679-689, 1995.
[0022996]13584.Vyas, P.; Vickers, M. A.; Simmons, D. L.; Ayyub, H.; Craddock, C. F.; Higgs, D. R.: Cis-acting sequences regulating expression of the human alpha-globin cluster lie within constitutively open chromatin. Cell 69: 781-793, 1992.
[0022997]13585.Gmachl, M.; Sagan, S.; Ketter, S.; Kreil, G.: The human sperm protein PH-20 has hyaluronidase activity. FEBS Lett. 336: 545-548, 1993.
[0022998]13586.Jones, M. H.; Davey, P. M.; Aplin, H.; Affara, N. A.: Expression analysis, genomic structure, and mapping to 7q31 of the human sperm adhesion molecule gene SPAM1. Genomics 29: 796-800, 1995.
[0022999]13587.Lathrop, W. F.; Carmichael, E. P.; Myles, D. G.; Primakoff, P. : cDNA cloning reveals the molecular structure of a sperm surface protein, PH-20, involved in sperm-egg adhesion and the wide distribution of its gene among mammals. J. Cell Biol. 111: 2939-2949, 1990.
[0023000]13588.Lin, Y.; Kimmel, L. H.; Myles, D. G.; Primakoff, P.: Molecular cloning of the human and monkey sperm surface protein PH-20. Proc. Nat. Acad. Sci. 90: 10071-10075, 1993.
[0023001]13589.Lin, Y.; Mahan, K.; Lathrop, W. F.; Myles, D. G.; Primakoff, P. : A hyaluronidase activity of the sperm plasma membrane protein PH-20 enables sperm to penetrate the cumulus cell layer surrounding the egg. J. Cell Biol. 125: 1157-1163, 1994.
[0023002]13590.Sago, H.; Kitagawa, M.; Obata, S.; Mori, N.; Taketani, S.; Rochelle, J. M.; Seldin, M. F.; Davidson, M.; St. John, T.; Suzuki, S. T.: Cloning, expression, and chromosomal localization of a novel cadherin-related protein, protocadherin-3. Genomics 29: 631-640, 1995.
[0023003]13591.Devlin, A. M.; Ling, E.; Peerson, J. M.; Fernando, S.; Clarke, R.; Smith, A. D.; Halsted, C. H.: Glutamate carboxypeptidase II: a polymorphism associated with lower levels of serum folate and hyperhomocysteinemia. Hum. Molec. Genet. 9: 2837-2844, 2000.
[0023004]13592.Israeli, R. S.; Powell, C. T.; Fair, W. R.; Heston, W. D. W.: Molecular cloning of a complementary DNA encoding a prostate-specific membrane antigen. Cancer Res. 53: 227-230, 1993.
[0023005]13593.Leek, J.; Lench, N.; Maraj, B.; Bailey, A.; Carr, I. M.; Andersen, S.; Cross, J.; Whelan, P.; MacLennan, K. A.; Meredith, D. M.; Markham, A. F.: Prostate-specific membrane antigen: evidence for the existence of a second related human gene. Brit. J. Cancer 72: 583-588, 1995.
[0023006]13594.Maraj, B. H.; Leek, J. P.; Karayi, M.; Ali, M.; Lench, N. J.; Markham, A. F.: Detailed genetic mapping around a putative prostate-specific membrane antigen locus on human chromosome 11p11.2. Cytogenet. Cell Genet. 81: 3-9, 1998.
[0023007]13595.O'Keefe, D. S.; Su, S. L.; Bacich, D. J.; Horiguchi, Y.; Luo, Y.; Powell, C. T.; Zandvliet, D.; Russell, P. J.; Molloy, P. L.; Nowak, N. J.; Shows, T. B.; Mullins, C.; Vonder Haar, R. A.; Fair, W. R.; Heston, W. D. W.: Mapping, genomic organization and promoter analysis of the human prostate-specific membrane antigen gene. Biochim. Biophys. Acta 1443: 113-127, 1998.
[0023008]13596.Rinker-Schaeffer, C. W.; Hawkins, A. L.; Su, S. L.; Israeli, R. S.; Griffin, C. A.; Isaacs, J. T.; Heston, W. D. W.: Localization and physical mapping of the prostate-specific membrane antigen (PSM) gene to human chromosome 11. Genomics 30: 105-108, 1995.
[0023009]13597.Carlson, S. G.; Eng, E.; Kim, E.-G.; Perlman, E. J.; Copeland, T. D.; Ballermann, B. J.: Expression of SET, an inhibitor of protein phosphatase 2A, in renal development and Wilms' tumor. J. Am. Soc. Nephrol. 9: 1873-1880, 1998.
[0023010]13598.Tripoulas, N.; LaJeunesse, D.; Gildea, J.; Shearn, A.: The Drosophila ash1 gene product, which is localized at specific sites on polytene chromosomes, contains a SET domain and a PHD finger. Genetics 143: 913-928, 1996.
[0023011]13599.Tschiersch, B.; Hofmann, A.; Krauss, V.; Dorn, R.; Korge, G.; Reuter, G.: The protein encoded by the Drosophila position-effect variegation suppressor gene Su(var)3-9 combines domains of antagonistic regulators of homeotic gene complexes. EMBO J. 13: 3822-3831, 1994.
[0023012]13600.von Lindern, M.; van Baal, S.; Wiegant, J.; Raap, A.; Hagemeijer, A.; Grosveld, G.: 'can,' a putative oncogene associated with myeloid leukemogenesis, may be activated by fusion of its 3-prime half to different genes: characterization of the 'set' gene. Molec. Cell. Biol. 3346-3355, 1992.
[0023013]13601.Bartsch, J. W.; Mukai, H.; Takahashi, N.; Ronsiek, M.; Fuchs, S.; Jockusch, H.; Ono, Y.: The protein kinase N (PKN) gene PRKCL1/Prkcl1 maps to human chromosome 19p12-p13.1 and mouse chromosome 8 with close linkage to the myodystrophy (myd) mutation. Genomics 49: 129-132, 1998.
[0023014]13602.Mukai, H.; Ono, Y.: A novel protein kinase with leucine zipper-like sequences: its catalytic domain is highly homologous to that of protein kinase C. Biochem. Biophys. Res. Commun. 199: 897-904, 1994.
[0023015]13603.Palmer, R. H.; Ridden, J.; Parker, P. J.: Identification of multiple, novel, protein kinase C-related gene products. FEBS Lett. 356: 5-8, 1994.
[0023016]13604.Palmer, R. H.; Ridden, J.; Parker, P. J.: Cloning and expressions patterns of two members of a novel protein-kinase-C-related kinase family. Europ. J. Biochem. 227: 344-351, 1995.
[0023017]13605.Yu, W.; Liu, J.; Morrice, N. A.; Wettenhall, R. E. H.: Isolation and characterization of a structural homologue of human PRK2 from rat liver. J. Biol. Chem. 272: 10030-10034, 1997.
[0023018]13606.Hernandez, A.; Park, J. P.; Lyon, G. J.; Mohandas, T. K.; St. Germain, D. L.: Localization of the type 3 iodothyronine deiodinase (DIO3) gene to human chromosome 14q32 and mouse chromosome 12F1. Genomics 53: 119-121, 1998.
[0023019]13607.Honore, B.; Rasmussen, H. H.; Vorum, H.; Dejgaard, K.; Liu, X.; Gromov, P.; Madsen, P.; Gesser, B.; Tommerup, N.; Celis, J. E.: Heterogeneous nuclear ribonucleoproteins H, Hprime, and F are members of a ubiquitously expressed subfamily of related but distinct proteins encoded by genes mapping to different chromosomes. J. Biol. Chem. 270: 28780-28789, 1995.
[0023020]13608.Huang, S. A.; Tu, H. M.; Harney, J. W.; Venihaki, M.; Butte, A. J.; Kozakewich, H. P. W.; Fishman, S. J.; Larsen, P. R.: Severe hypothyroidism caused by type 3 iodothyronine deiodinase in infantile hemangiomas. New Eng. J. Med. 343: 185-189, 2000.
[0023021]13609.Salvatore, D.; Low, S. C.; Berry, M.; Maia, A. L.; Harney, J. W.; Croteau, W.; St. German, D. L.; Larsen, P. R.: Type 3 iodothyronine deiodinase: cloning, in vitro expression, and functional analysis of the placental selenoenzyme. J. Clin. Invest. 96: 2421-2430, 1995.
[0023022]13610.Ardehali, H.; Tiller, G. E.; Printz, R. L.; Mochizuki, H.; Prochazka, M.; Granner, D. K.: A novel (TA)n polymorphism in the hexokinase II gene: application to noninsulin-dependent diabetes mellitus in the Pima Indians. Hum. Genet. 97: 482-485, 1996.
[0023023]13611.Echwald, S. M.; Bjorbaek, C.; Hansen, T.; Clausen, J. O.; Vestergaard, H.; Zierarth, J. R.; Printz, R. L.; Granner, D. K.; Pedersen, O.: Identification of four amino acid substitutions in hexokinase II and studies of relationships to NIDDM, glucose effectiveness, and insulin sensitivity. Diabetes 44: 347-353, 1995.
[0023024]13612.Heikkinen, S.; Suppola, S.; Malkki, M.; Deeb, S. S.; Janne, J.; Laakso, M.: Mouse hexokinase II gene: structure, cDNA, promoter analysis, and expression pattern. Mammalian Genome 11: 91-96, 2000.
[0023025]13613.Laakso, M.; Malkki, M.; Deeb, S. S.: Amino acid substitutions in hexokinase II among patients with NIDDM. Diabetes 44: 330-334, 1995.
[0023026]13614.Lehto, M.; Xiang, K.; Stoffel, M.; Espinosa, R., III; Groop, L. C.; Le Beau, M. M.; Bell, G. I.: Human hexokinase II: localization of the polymorphic gene to chromosome 2. Diabetologia 36: 1299-1302, 1993.
[0023027]13615.Mathupala, S. P.; Heese, C.; Pedersen, P. L.: Glucose catabolism in cancer cells: the type II hexokinase promoter contains functionally active response elements for the tumor suppressor p53. J. Biol. Chem. 272: 22776-22780, 1997.
[0023028]13616.Mathupala, S. P.; Rempel, A.; Pedersen, P. L.: Glucose catabolism in cancer cells: isolation, sequence, and activity of the promoter for type II hexokinase. J. Biol. Chem. 270: 16918-16925, 1995.
[0023029]13617.Vidal-Puig, A.; Printz, R. L.; Stratton, I. M.; Granner, D. K.; Moller, D. E.: Analysis of the hexokinase II gene in subjects with insulin resistance and NIDDM and detection of a gln142-to-his substitution. Diabetes 44: 340-346, 1995.
[0023030]13618.Luo, Y.; Roeder, R. G.: Cloning, functional characterization, and mechanism of action of the B-cell-specific transcriptional activator OCA-B. Molec. Cell. Biol. 15: 4115-4124, 1995.
[0023031]13619.Staudt, L. M.; Lenardo, M. J.: Immunoglobulin gene transcription. Ann. Rev. Immun. 9: 373-398, 1991.
[0023032]13620.Strubin, M.; Newell, J. W.; Matthias, P.: OBF-1, a novel B cell-specific coactivator that stimulates immunoglobulin promoter activity through association with octamer-binding proteins. Cell 80: 497-506, 1995.
[0023033]13621.Hahm, K.; Kim, G.; Turck, C. W.; Smale, S. T.: Isolation of a murine gene encoding a nucleic acid-binding protein with homology to hnRNP K. Nucleic Acids Res. 21: 3894 only, 1993.
[0023034]13622.Leffers, H.; Dejgaard, K.; Celis, J. E.: Characterisation of two major cellular poly(rC)-binding human proteins, each containing three K-homologous (KH) domains. Europ. J. Biochem. 230: 447-453, 1995.
[0023035]13623.Bouchard, M. J.; Wang, L.-H.; Schneider, R. J.: Calcium signaling by HBx protein in hepatitis B virus DNA replication. Science 294: 2376-2378, 2001.
[0023036]13624.Calalb, M. B.; Polte, T. R.; Hanks, S. K.: Tyrosine phosphorylation of focal adhesion kinase at sites in the catalytic domain regulates kinase activity: a role for Src family kinases. Molec. Cell. Biol. 15: 954-963, 1995.
[0023037]13625.Ganem, D.: The X files--one step closer to closure. Science 294: 2299-2300, 2001.
[0023038]13626.Herzog, H.; Nicholl, J.; Hort, Y. J.; Sutherland, G. R.; Shine, J.: Molecular cloning and assignment of FAK2, a novel human focal adhesion kinase, to 8p11.2-p22 by nonisotopic in situ hybridization. Genomics 32: 484-486, 1996.
[0023039]13627.Lev, S.; Moreno, H.; Martinez, R.; Canoll, P.; Peles, E.; Musacchio, J. M.; Plowman, G. D.; Rudy, B.; Schlessinger, J.: Protein tyrosine kinase PYK2 involved in Ca(2+)-induced regulation of ion channel and MAP kinase functions. Nature 376: 737-745, 1995.
[0023040]13628.Manser, E.; Leung, T.; Salihuddin, H.; Tan, L.; Lim, L.: A non-receptor tyrosine kinase that inhibits the GTPase activity of p21(cdc42). Nature 363: 364-367, 1993.
[0023041]13629.Matsuya, M.; Sasaki, H.; Aoto, H.; Mitaka, T.; Nagura, K.; Ohba, T.; Ishino, M.; Takahashi, S.; Suzuki, R.; Sasaki, T.: Cell adhesion kinase beta forms a complex with a new member, Hic-5, of proteins localized at focal adhesions. J. Biol. Chem. 273: 1003-1014, 1998.
[0023042]13630.Dawson, P. A.; Oelkers, P.: Bile acid transporters. Curr. Opin. Lipid. 6: 109-114, 1995.
[0023043]13631.Hess Thaysen, E.; Pedersen, L.: Idiopathic bile acid catharis. Gut 17: 965-970, 1976.
[0023044]13632.Heubi, J. E.; Balistreri, W. F.; Fondacaro, J. D.; Partin, J. C.; Schubert, W. K.: Primary bile and malabsorption: defective in vitro ileal active bile acid transport. Gastroenterology 83: 804-811, 1982.
[0023045]13633.Heubi, J. E.; Balistreri, W. F.; Partin, J. C.; Schubert, W. K.; McGraw, C. A.: Refractory infantile diarrhea due to primary bile acid malabsorption. J. Pediat. 94: 546-551, 1979.
[0023046]13634.Jonas, A.; Diver-Haber, A.; Avigad, S.: Well-compensated primary bile acid malabsorption presenting as chronic nonspecific diarrhea. J. Pediat. Gastroent. Nutr. 5: 143-146, 1986.
[0023047]13635.Lammert, F.; Paigen, B.; Carey, M. C.: Localization of the ileal sodium-bile salt cotransporter gene (Slc10a2) to mouse chromosome 8. Mammalian Genome 9: 173-174, 1998.
[0023048]13636.Oelkers, P.; Kirby, L. C.; Heubi, J. E.; Dawson, P. A.: Primary bile acid malabsorption caused by mutations in the ileal sodium-dependent bile acid transporter gene (SLC10A2). J. Clin. Invest. 99: 1880-1887, 1997.
[0023049]13637.Small, D. M.: Point mutations in the ileal bile salt transporter cause leaks in the enterohepatic circulation leading to severe chronic diarrhea and malabsorption. (Editorial) J. Clin. Invest. 99: 1807-1808, 1997.
[0023050]13638.Small, D. M.; Dowling, R. H.; Redinger, R. N.: The enterohepatic circulation of bile salts. Arch. Intern. Med. 130: 552-573, 1972.
[0023051]13639.Wong, M. H.; Oelkers, P.; Dawson, P. A.: Identification of a mutation in the ileal sodium-dependent bile acid transporter gene that abolishes transport activity. J. Biol. Chem. 270: 27228-27234, 1995.
[0023052]13640.Wong, M. H.; Rao, P. N.; Pettenati, M. J.; Dawson, P. A.: Localization of the ileal sodium-bile acid cotransporter gene (SLC10A2) to human chromosome 13q33. Genomics 33: 538-540, 1996.
[0023053]13641.Luo, Z. G.; Wang, Q.; Zhou, J. Z.; Wang, J.; Lou, Z.; Liu, M.; He, X.; Wynshaw-Boris, A.; Xiong, W. C.; Lu, B.; Mei, L.: Regulation of AChR clustering by Dishevelled interacting with MuSK and PAK1. Neuron 35: 489-505, 2002.
[0023054]13642.Meyer, J.; Wirth, J.; Held, M.; Schempp, W.; Scherer, G.: SOX20, a new member of the SOX gene family, is located on chromosome 17p13. Cytogenet. Cell Genet. 72: 246-249, 1996.
[0023055]13643.Vujic, M.; Rajic, T.; Goodfellow, P. N.; Stevanovic, M.: cDNA characterization and high resolution mapping of the human SOX20 gene. Mammalian Genome 9: 1059-1061, 1998.
[0023056]13644.Eng, C.: Will the real Cowden syndrome please stand up: revised diagnostic criteria. J. Med. Genet. 37: 828-830, 2000.
[0023057]13645.Eng, C.: To be or not to BMP. Nature Genet. 28: 105-107, 2001.
[0023058]13646.Ide, H.; Saito-Ohara, F.; Ohnami, S.; Osada, Y.; Ikeuchi, T.; Yoshida, T.; Terada, M.: Assignment of the BMPR1A and BMPR1B genes to human chromosome 10q22.3 and 4q23-q24 by in situ hybridization and radiation hybrid mapping. Cytogenet. Cell Genet. 81: 285-286, 1998.
[0023059]13647.Schuffenhauer, S.; Lichtner, P.; Peykar-Derakhshandeh, P.; Murken, J.; Haas, O. A.; Back, E.; Wolff, G.; Zabel, B.; Barisic, I.; Rauch, A.; Borochowitz, Z.; Dallapiccola, B.; Ross, M.; Meitinger, T.: Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2). Europ. J. Hum. Genet. 6: 213-225, 1998.
[0023060]13648.Carter, B. S.; Ewing, C. M.; Ward, W. S.; Treiger, B. F.; Aalders, T. W.; Schalken, J. A.; Epstein, J. I.; Isaacs, W. B.: Allelic loss of chromosomes 16q and 10q in human prostate cancer. Proc. Nat. Acad. Sci. 87: 8751-8755, 1990.
[0023061]13649.Lee, S. W.: H-cadherin, a novel cadherin with growth inhibitory functions and diminished expression in human breast cancer. Nature Med. 2: 776-782, 1996.
[0023062]13650.Sato, M.; Mori, Y.; Sakurada, A.; Fujimura, S.; Horii, A.: The H-cadherin (CDH13) gene is inactivated in human lung cancer. Hum. Genet. 103: 96-101, 1998.
[0023063]13651.Tsuda, H.; Hirohashi, S.: Identification of multiple breast cancers of multicentric origin by histological observations and distribution of allele loss on chromosome 16q. Cancer Res. 55: 3395-3398, 1995.
[0023064]13652.Tsuda, H.; Oda, T.; Sakamoto, M.; Hirohashi, S.: Different pattern of chromosomal allele loss in multiple hepatocellular carcinomas as evidence of their multifocal origin. Cancer Res. 52: 1504-1509, 1992.
[0023065]13653.Bedell, J. A.; Wagner-McPherson, C. B.; Bengtsson, U.; Handa, K.; Dumars, K. W.; Marsh, J. L.; Smith, M.; McPherson, J. D.: A 1p deletion syndrome patient is hemizygous for a human homologue of the Drosophila dishevelled gene. (Abstract) Am. J. Hum. Genet. 59: A298 only, 1996.
[0023066]13654.Klingensmith, J.; Nusse, R.; Perrimon, N.: The Drosophila segment polarity gene dishevelled encodes a novel protein required for response to the wingless signal. Genes Dev. 8: 118-130, 1994.
[0023067]13655.Lijam, N.; Paylor, R.; McDonald, M. P.; Crawley, J. N.; Deng, C.-X.; Herrup, K.; Stevens, K. E.; Maccaferri, G.; McBain, C. J.; Sussman, D. J.; Wynshaw-Boris, A.: Social interaction and sensorimotor gating abnormalities in mice lacking Dvl1. Cell 90: 895-905, 1997.
[0023068]13656.Pizzuti, A.; Amati, F.; Calabrese, G.; Mari, A.; Colosimo, A; Silani, V.; Giardino, L.; Ratti, A.; Penso, D.; Calza, L.; Palka, G.; Scarlato, G.; Novelli, G.; Dallapicolla, B.: cDNA characterization and chromosomal mapping of two human homologs of the Drosophila dishevelled polarity gene. Hum. Molec. Genet. 5: 953-958, 1996.
[0023069]13657.Semenov, M. V.; Snyder, M.: Human dishevelled genes constitute a DHR-containing multigene family. Genomics 42: 302-310, 1997.
[0023070]13658.Wallingford, J. B.; Rowning, B. A.; Vogeli, K. M.; Rothbacher, U.; Fraser, S. E.; Harland, R. M.: Dishevelled controls cell polarity during Xenopus gastrulation. Nature 405: 81-85, 2000.
[0023071]13659.Lee, J.; Hahn, Y.; Yun, J. H.; Mita, K.; Chung, J. H.: Characterization of JDP genes, an evolutionarily conserved J domain-only protein family, from human and moths. Biochim. Biophys. Acta 1491: 355-363, 2000.
[0023072]13660.Carson-Walter, E. B.; Watkins, D. N.; Nanda, A.; Vogelstein, B.; Kinzler, K. W.; St. Croix, B.: Cell surface tumor endothelial markers are conserved in mice and humans. Cancer Res. 61: 6649-6655, 2001.
[0023073]13661.St. Croix, B.; Rago, C.; Velculescu, V.; Traverso, G.; Romans, K. E.; Montgomery, E.; Lal, A.; Riggins, G. J.; Lengauer, C.; Vogelstein, B.; Kinzler, K. W.: Genes expressed in human tumor endothelium. Science 289: 1197-1202, 2000.
[0023074]13662.Gosling, J.; Dairaghi, D. J.; Wang, Y.; Hanley, M.; Talbot, D.; Miao, Z.; Schall, T. J.: Cutting edge: identification of a novel chemokine receptor that binds dendritic cell- and T cell-active chemokines including ELC, SLC, and TECK. J. Immun. 164: 2851-2856, 2000.
[0023075]13663.Donovan, A.; Brownlie, A.; Zhou, Y.; Shepard, J.; Pratt, S. J.; Moynihan, J.; Paw, B. H.; Drejer, A.; Barut, B.; Zapata, Z.; Law, T. C.; Brugnara, C.; Lux, S. E.; Pinkus, G. S.; Pinkus, J. L.; Kingsley, P. D.; Palis, J.; Fleming, M. D.; Andrews, N. C.; Zon, L. I.: Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter. Nature 403: 776-781, 2000.
[0023076]13664.Cohn, R. D.; Campbell, K. P.: Molecular basis of muscular dystrophies. Muscle Nerve 23: 1456-1471, 2000.
[0023077]13665.Gillespie, C. S.; Lee, M.; Fantes, J. F.; Brophy, P. J.: The gene encoding the Schwann cell protein periaxin localizes on mouse chromosome 7 (Prx). Genomics 41: 297-298, 1997.
[0023078]13666.Gillespie, C. S.; Sherman, D. L.; Fleetwood-Walker, S. M.; Cottrell, D. F.; Tait, S.; Garry, E. M.; Wallace, V. C. J.; Ure, J.; Griffiths, I. R.; Smith, A. Brophy, P. J.: Peripheral demyelination and neuropathic pain behavior in periaxin-deficient mice. Neuron 26: 523-531, 2000.
[0023079]13667.Schuler, G. D.: Sequence mapping by electronic PCR. Genome Res. 7: 541-550, 1997.
[0023080]13668.Takashima, H.; Boerkoel, C. F.; De Jonghe, P.; Ceuterick, C.; Martin, J.-J.; Voit, T.; Schroder, J.-M.; Williams, A.; Brophy, P. J.; Timmerman, V.; Lupski, J. R.: Periaxin mutations cause a broad spectrum of demyelinating neuropathies. Ann. Neurol. 51: 709-715, 2002.
[0023081]13669.Liu, Q.-Y.; Wang, L. F.; Miao, S. Y.; Catterall, J. F.: Expression and characterization of a novel human sperm membrane protein. Biol. Reprod. 54: 323-330, 1996.
[0023082]13670.Miao, S.; Yan, Y.; Li, Y.; Bai, Y.; Wei, S.; Zong, C.; Zhao, M.; Zong, S.; Wang, L.: cDNA encoding a human sperm membrane protein BS-84. Prog. Natural Sci. 5: 119-122, 1995.
[0023083]13671.Wang, H.; Miao, S.; Chen, D.; Wang, L.; Koide, S. S.: Assignment of chromosomal locus and evidence for alternatively spliced mRNAs of a human sperm membrane protein (hSMP-1). Biochim. Biophys. Acta 1447: 119-124, 1999.
[0023084]13672.Guzman-Rojas, L.; Sims, J. C.; Rangel, R.; Guret, C.; Sun, Y.; Alcocer, J. M.; Martinez-Valdez, H.: PRELI, the human homologue of the avian px19, is expressed by germinal center B lymphocytes. Int. Immun. 12: 607-612, 2000.
[0023085]13673.Blasina, A.; de Weyer, I. V.; Laus, M. C.; Luyten, W. H.; Parker, A. E.; McGowan, C. H.: A human homologue of the checkpoint kinase Cds1 directly inhibits Cdc25 phosphatase. Curr. Biol. 14: 1-10, 1999.
[0023086]13674.Brown, A. L.; Lee, C.-H.; Schwarz, J. K.; Mitiku, N.; Piwnica-Worms, H.; Chung, J. H.: A human Cds1-related kinase that functions downstream of ATM protein in the cellular response to DNA damage. Proc. Nat. Acad. Sci. 96: 3745-3750, 1999.
[0023087]13675.Chaturvedi, P.; Eng, W. K.; Zhu, Y.; Mattern, M. R.; Mishra, R.; Hurle, M. R.; Zhang, X.; Annan, R. S.; Lu, Q.; Faucette, L. F.; Scott, G. F.; Li, X.; Carr, S. A.; Johnson, R. K.; Winkler, J. D.; Zhou, B. B.: Mammalian Chk2 is a downstream effector of the ATM-dependent DNA damage checkpoint pathway. Oncogene 18: 4047-4054, 1999.
[0023088]13676.Chehab, N. H.; Malikzay, A.; Appel, M.; Halazonetis, T. D.: Chk2/hCds1 functions as a DNA damage checkpoint in G-1 by stabilizing p53. Genes Dev. 14: 278-288, 2000.
[0023089]13677.Ino, Y.; Wahrer, D. C. R.; Bell, D. W.; Haber, D. A.; Louis, D. N.: Mutation analysis of the hCHK2 gene in primary human malignant gliomas. (Letter) Neurogenetics 3: 45-46, 2000.
[0023090]13678.Lee, S. B.; Kim, S. H.; Bell, D. W.; Wahrer, D. C. R.; Schiripo, T. A.; Jorczak, M. M.; Sgroi, D. C.; Garber, J. E.; Li, F. P.; Nichols, K. E.; Varley, J. M.; Godwin, A. K.; Shannon, K. M.; Harlow, E.; Haber, D. A.: Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni syndrome. Cancer Res. 61: 8062-8067, 2001.
[0023091]13679.Lopes, M.; Cotta-Ramusino, C.; Pellicioli, A.; Liberi, G.; Plevani, P.; Muzi-Falconi, M. Newlon, C. S.; Foiani, M.: The DNA replication checkpoint response stabilizes stalled replication forks. Nature 412: 557-561, 2001.
[0023092]13680.Matsuoka, S.; Huang, M.; Elledge, S. J.: Linkage of ATM to cell cycle regulation by the Chk2 protein kinase. Science 282: 1893-1897, 1998.
[0023093]13681.Meijers-Heijboer, H.; van den Ouweland, A.; Klijn, J.; Wasielewski, M.; de Snoo, A.; Oldenburg, R.; Hollestelle, A.; Houben, M.; Crepin, E.; van Veghel-Plandsoen, M.; Elstrodt, F.; van Duijn, C.; and 29 others: Low-penetrance susceptibility to breast cancer due to CHEK2*1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nature Genet. 31: 55-59, 2002.
[0023094]13682.Miller, C. W.; Ikezoe, T.; Krug, U.; Hofmann, W.-K.; Tavor, S.; Vegesna, V.; Tsukasaki, K.; Takeuchi, S.; Koeffler, H. P.: Mutations of the CHK2 gene are found in some osteosarcomas, but are rare in breast, lung, and ovarian tumors. Genes Chromosomes Cancer 33: 17-21, 2002.
[0023095]13683.Sogo, J. M.; Lopes, M.; Foiani, M.: Fork reversal and ssDNA accumulation at stalled replication forks owing to checkpoint defects. Science 297: 599-602, 2002.
[0023096]13684.Vahteristo, P.; Bartkova, J.; Eerola, H.; Syrjakoski, K.; Ojala, S.; Kilpivaara, O.; Tamminen, A.; Kononen, J.; Aittomaki, K.; Heikkila, P.; Holli, K.; Blomqvist, C.; Bartek, J.; Kallioniemi, O.-P.; Nevanlinna, H.: A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. Am. J. Hum. Genet. 71: 432-438, 2002.
[0023097]13685.Vahteristo, P.; Tamminen, A.; Karvinen, P.; Eerola, H.; Eklund, C.; Aaltonen, L. A.; Blomqvist, C.; Aittomaki, K.; Nevanlinna, H. : p53, CHK2, and CHK1 genes in Finnish families with Li-Fraumeni syndrome: further evidence of CHK2 in inherited cancer predisposition. Cancer Res. 61: 5718-5722, 2001.
[0023098]13686.De, S. K.; Enders, G. C.; Andrews, G. K.: High levels of metallothionein messenger RNAs in male germ cells of the adult mouse. Molec. Endocr. 5: 628-636, 1991.
[0023099]13687.Salehi-Ashtiani, K.; Widrow, R. J.; Markert, C. L.; Goldberg, E. : Testis-specific expression of a metallothionein I-driven transgene correlates with undermethylation of the locus in testicular DNA. Proc. Nat. Acad. Sci. 90: 8886-8890, 1993.
[0023100]13688.Sugihara, T.; Wadhwa, R.; Kaul, S. C.; Mitsui, Y.: A novel testis-specific metallothionein-like protein, tesmin, is an early marker of male germ cell differentiation. Genomics 57: 130-136, 1999.
[0023101]13689.Larrouy, D.; Vidal, H.; Andreelli, F.; Laville, M.; Langin, D. : Cloning and mRNA tissue distribution of human PPAR-gamma coactivator-1. Int. J. Obesity 23: 1327-1332, 1999.
[0023102]13690.Lin, J.; Wu, H.; Tarr, P. T.; Zhang, C.-Y.; Wu, Z.; Boss, O.; Michael, L. F.; Puigserver, P.; Isotani, E.; Olson, E. N.; Lowell, B. B.; Bassel-Duby, R.; Spiegelman, B. M.: Transcriptional coactivator PGC-1-alpha drives the formation of slow-twitch muscle fibres. Nature 418: 797-801, 2002.
[0023103]13691.Monsalve, M.; Wu, Z.; Adelmant, G.; Puigserver, P.; Fan, M.; Spiegelman, B. M.: Direct coupling of transcription and mRNA processing through the thermogenic coactivator PGC-1. Molec. Cell 6: 307-316, 2000.
[0023104]13692.Puigserver, P.; Adelmant, G.; Wu, Z.; Fan, M.; Xu, J.; O'Malley, B.; Spiegelman, B. M.: Activation of PPAR-gamma coactivator-1 through transcription factor docking. Science 286: 1368-1371, 1999.
[0023105]13693.Puigserver, P.; Rhee, J.; Lin, J.; Wu, Z.; Yoon, J. C.; Zhang, C.-Y.; Krauss, S.; Mootha, V. K.; Lowell, B. B.; Spiegelman, B. M. : Cytokine stimulation of energy expenditure through p38 MAP kinase activation of PPAR-gamma coactivator-1. Molec. Cell 8: 971-982, 2001.
[0023106]13694.Puigserver, P.; Wu, Z.; Park, C. W.; Graves, R.; Wright, M.; Spiegelman, B. M.: A cold-inducible coactivator of nuclear receptors linked to adaptive thermogenesis. Cell 92: 829-839, 1998.
[0023107]13695.Waite, L. L.; Person, E. C.; Zhou, Y.; Lim, K.-H.; Scanlan, T. S.; Taylor, R. N.: Placental peroxisome proliferator-activated receptor-gamma is up-regulated by pregnancy serum. J. Clin. Endocr. Metab. 85: 3808-3814, 2000.
[0023108]13696.Wu, Z.; Puigserver, P.; Andersson, U.; Zhang, C.; Adelmant, G.; Mootha, V.; Troy, A.; Cinti, S.; Lowell, B.; Scarpulla, R. C.; Spiegelman, B. M.: Mechanisms controlling mitochondrial biogenesis and respiration through the thermogenic coactivator PGC-1. Cell 98: 115-124, 1999.
[0023109]13697.Yoon, J. C.; Puigserver, P.; Chen, G.; Donovan, J.; Wu, Z.; Rhee, J.; Adelmant, G.; Stafford, J.; Kahn, C. R.; Granner, D. K.; Newgard, C. B.; Spiegelman, B. M.: Control of hepatic gluconeogenesis through the transcriptional coactivator PGC-1. Nature 413: 131-138, 2001.
[0023110]13698.Ellis, J. H.; Ashman, C.; Burden, M. N.; Kilpatrick, K. E.; Morse, M. A.; Hamblin, P. A.: GRID: a novel Grb-2-related adapter protein that interacts with the activated T cell costimulatory receptor CD28. J. Immun. 164: 5805-5814, 2000.
[0023111]13699.Qiu, M.; Hua, S.; Agrawal, M.; Li, G.; Cai, J.; Chan, E.; Zhou, H.; Luo, Y.; Liu, M.: Molecular cloning and expression of human Grap-2, a novel leukocyte-specific SH2- and SH3-containing adaptor-like protein that binds to Gab-1. Biochem. Biophys. Res. Commun. 253: 443-447, 1998.
[0023112]13700.Yoder, J.; Pham, C.; Iizuka, Y.-M.; Kanagawa, O.; Liu, S. K.; McGlade, J.; Cheng, A. M.: Requirement for the SLP-76 adaptor GADS in T cell development. Science 291: 1987-1991, 2001.
[0023113]13701.Hadjantonakis, A.-K.; Formstone, C. J.; Little, P. F. R.: mCelsr1 is an evolutionarily conserved seven-pass transmembrane receptor and is expressed during mouse embryonic development. Mech. Dev. 78: 91-95, 1998.
[0023114]13702.Hadjantonakis, A.-K.; Sheward, W. J.; Harmar, A. J.; de Galan, L.; Hoovers, J. M. N.; Little, P. F. R.: Celsr1, a neural-specific gene encoding an unusual seven-pass transmembrane receptor, maps to mouse chromosome 15 and human chromosome 22qter. Genomics 45: 97-104, 1997.
[0023115]13703.Bonny, C.; Oberson, A.; Steinmann, M.; Schorderet, D. F.; Nicod, P.; Waeber, G.: IB1 reduces cytokine-induced apoptosis of insulin-secreting cells. J. Biol. Chem. 275: 16466-16472, 2000.
[0023116]13704.Mooser, V.; Maillard, A.; Bonny, C.; Steinmann, M.; Shaw, P.; Yarnall, D. P.; Burns, D. K.; Schorderet, D. F.; Nicod, P.; Waeber, G.: Genomic organization, fine-mapping, and expression of the human islet-brain 1 (IB1)/c-Jun-amino-terminal kinase interacting protein-1 (JIP-1) gene. Genomics 55: 202-208, 1999.
[0023117]13705.Thompson, N. A.; Haefliger, J.-A.; Senn, A.; Tawadros, T.; Magara, F.; Ledermann, B.; Nicod, P.; Waeber, G.: Islet-brain1/JNK-interacting protein-1 is required for early embryogenesis in mice. J. Biol. Chem. 276: 27745-27748, 2001.
[0023118]13706.Waeber, G.; Delplanque, J.; Bonny, C.; Mooser, V.; Steinmann, M.; Widmann, C.; Maillard, A.; Miklossy, J.; Dina, C.; Hani, E. H.; Vionnet, N.; Nicod, P.; Boutin, P.; Froguel, P.: The gene MAPK8IP1, encoding islet-brain-1, is a candidate for type 2 diabetes. Nature Genet. 24: 291-295, 2000.
[0023119]13707.Hewett-Emmett, D.; Tashian, R. E.: Functional diversity, conservation, and convergence in the evolution of the alpha-, beta-, and gamma-carbonic anhydrase gene families. Molec. Phylogenet. Evol. 5: 50-77, 1996.
[0023120]13708.Hewett-Emmett, D.; Wiebauer, K.: Personal Communication. Houston, Texas 9/1999.
[0023121]13709.Kleiderlein, J. J.; Nisson, P. E.; Jessee, J.; Li, W.-B.; Becker, K. G.; Derby, M. L.; Ross, C. A.; Margolis, R. L.: CCG repeats in cDNAs from human brain. Hum. Genet. 103: 666-673, 1998.
[0023122]13710.Lovejoy, D. A.; Hewett-Emmett, D.; Porter, C. A.; Cepoi, D.; Sheffield, A.; Vale, W. W.; Tashian, R. E.: Evolutionarily conserved, 'acatalytic' carbonic anhydrase-related protein XI contains a sequence motif present in the neuropeptide sauvagine: the human CA-RP XI gene (CA11) is embedded between the secretor gene cluster and the DBP gene at 19q13.3. Genomics 54: 484-493, 1998.
[0023123]13711.Bellingham, J.; Greogory-Evans, K.; Gregory-Evans, C. Y.: Sequence and tissue expression of a human novel carbonic anhydrase-related protein, CARP-2, mapping to chromosome 19q13.3. Biochem. Biophys. Res. Comm. 253: 364-367, 1998.
[0023124]13712.Fujikawa-Adachi, K.; Nishimori, I.; Taguchi, T.; Yuri, K.; Onishi, S.: cDNA sequence, mRNA expression, and chromosomal localization of human carbonic anhydrase-related protein, CA-RP XI. Biochim. Biophys. Acta 1431: 518-524, 1999.
[0023125]13713.de Veer, M. J.; Sim, H.; Whisstock, J. C.; Devenish, R. J.; Ralph, S. J.: IFI60/ISG60/IFIT4, a new member of the human IFI54/IFIT2 family of interferon-stimulated genes. Genomics 54: 267-277, 1998.
[0023126]13714.Yu, M.; Tong, J.-H.; Mao, M.; Kan, L.-X.; Liu, M.-M.; Sun, Y.-W.; Fu, G.; Jing, Y.-K.; Yu, L.; Lepaslier, D.; Lanotte, M.; Wang, Z.-Y.; Chen, Z.; Waxman, S.; Wang, Y.-X.; Tan, J.-Z.; Chen, S.-J.: Cloning of a gene (RIG-G) associated with retinoic acid-induced differentiation of acute promyelocytic leukemia cells and representing a new member of a family of interferon-stimulated genes. Proc. Nat. Acad. Sci. 94: 7406-7411, 1997.
[0023127]13715.Zhu, H.; Cong, J.-P.; Shenk, T.: Use of differential display analysis to assess the effect of human cytomegalovirus infection on the accumulation of cellular RNAs: induction of interferonresponsive RNAs. Proc. Nat. Acad. Sci. 94: 13985-13990, 1997.
[0023128]13716.Devalia, V.; Carter, K.; Walker, A. P.; Perkins, S. J.; Worwood, M.; May, A.; Dooley, J. S.: Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3). Blood 100: 695-697, 2002.
[0023129]13717.Kido, S.; Hiraoka, Y.; Ogawa, M.; Sakai, Y.; Yoshimura, Y.; Aiso, S.: Cloning and characterization of mouse mSox13 cDNA. Gene 208: 201-206, 1998.
[0023130]13718.Rabin, D. U.; Pleasic, S. M.; Palmer-Crocker, R.; Shapiro, J. A. : Cloning and expression of IDDM-specific human autoantigens. Diabetes 41: 183-186, 1992.
[0023131]13719.Roose, J.; Korver, W.; de Boer, R.; Kuipers, J.; Hurenkamp, J.; Clevers, H.: The Sox-13 gene: structure, promoter characterization, and chromosomal localization. Genomics 57: 301-305, 1999.
[0023132]13720.Roose, J.; Korver, W.; Oving, E.; Wilson, A.; Wagenaar, G.; Markman, M.; Lamers, W.; Clevers, H.: High expression of the HMG box factor Sox-13 in arterial walls during embryonic development. Nucleic Acids Res. 26: 469-476, 1998.
[0023133]13721.Abrink, M.; Aveskogh, M.; Hellman, L.: Isolation of cDNA clones for 42 different Kruppel-related zinc finger proteins expressed in the human monoblast cell line U-937. DNA Cell Biol. 14: 125-136, 1995.
[0023134]13722.Holmes, D. I. R.; Wahab, N. A.; Mason, R. M.: Cloning and characterization of ZNF236, a glucose-regulated Kruppel-like zinc-finger gene mapping to human chromosome 18q22-q23. Genomics 60: 105-109, 1999.
[0023135]13723.Hirai, H.; Tanaka, K.; Takano, S.; Ichimasa, M.; Nakamura, M.; Nagata, K.: Cutting edge: agonistic effect of indomethacin on a prostaglandin D2 receptor, CRTH2. J. Immun. 168: 981-985, 2002.
[0023136]13724.Nagata, K.; Tanaka, K.; Ogawa, K.; Kemmotsu, K.; Imai, Yoshie, O.; Abe, H.; Tada, K.; Nakamura, M.; Sugamura, K.; Takano, S.: Selective expression of a novel surface molecule by human Th2 cells in vivo. J. Immun. 162: 1278-1286, 1999.
[0023137]13725.Meng, X.; Lu, X.; Morris, C. A.; Keating, M. T.: A novel human gene FKBP6 is deleted in Williams syndrome. Genomics 52: 130-137, 1998.
[0023138]13726.Martin, S.; Richards, A. J.; Yates, J. R. W.; Scott, J. D.; Pope, M.; Snead, M. P.: Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity. Europ. J. Hum. Genet. 7: 807-814, 1999.
[0023139]13727.Sirko-Osadsa, D. A.; Zlotogora, J.; Tiller, G. E.; Knowlton, R. G.; Warman, M. L.: A third Stickler syndrome locus is linked to COL11A1, the gene encoding the alpha-1 subunit of collagen XI. (Abstract) Am. J. Hum. Genet. 59 (suppl.): A17, 1996.
[0023140]13728.Grundemann, D.; Schechinger, B.; Rappold, G. A.; Schomig, E.: Molecular identification of the corticosterone-sensitive extraneuronal catecholamine transporter. Nature Neurosci. 1: 349-351, 1998.
[0023141]13729.Boettger, T.; Hubner, C. A.; Maler, H.; Rust, M. B.; Beck, F. X.; Jentsch, T. J.: Deafness and renal tubular acidosis in mice lacking the K-CI co-transporter Kcc4. Nature 416: 874-878, 2002.
[0023142]13730.Prakash, S. K.; Van den Veyver, I. B.; Franco, B.; Volta, M.; Ballabio, A.; Zoghbi, H. Y.: Characterization of a novel chromo domain gene in Xp22.3 with homology to Drosophila msl-3. Genomics 59: 77-84, 1999.
[0023143]13731.Kotake, K.; Ozaki, N.; Mizuta, M.; Sekiya, S.; Inagaki, N.; Seino, S.: Noc2, a putative zinc finger protein involved in exocytosis in endocrine cells. J. Biol. Chem. 272: 29407-29410, 1997.
[0023144]13732.Smith, J. S.; Tachibana, I.; Allen, C.; Chiappa, S. A.; Lee, H. K.; McIver, B.; Jenkins, R. B.; Raffel, C.: Cloning of a human ortholog (RPH3AL) of (RNO)Rph3al from a candidate 17p13.3 medulloblastoma tumor suppressor locus. Genomics 59: 97-101, 1999.
[0023145]13733.Nomura, N.; Miyajima, N.; Sazuka, T.; Tanaka, A.; Kawarabayasi, Y.; Sato, S.; Nagase, T.; Seki, N.; Ishikawa, K.; Tabata, S.: Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1. DNA Res. 1: 27-35, 1994.
[0023146]13734.Kimura, M.; Okano, Y.: Identification and assignment of the human NIMA-related protein kinase 7 gene (NEK7) to human chromosome 1q31.3. Cytogenet. Cell Genet. 94: 33-38, 2001.
[0023147]13735.Li, M. Z.; Yu, L.; Liu, Q.; Chu, J. Y.; Zhao, S. Y.: Assignment of NEK6, a NIMArelated gene, to human chromosome 9q33.3-q34.11 by radiation hybrid mapping. Cytogenet. Cell Genet. 87: 271-272, 1999.
[0023148]13736.Suzuki, T.; Nishiyama, K.; Yamamoto, A.; Inazawa, J.; Iwaki, T.; Yamada, T.; Kanazawa, I.; Sakaki, Y.: Molecular cloning of a novel apoptosis-related gene, human Nap1 (NCKAP1), and its possible relation to Alzheimer disease. Genomics 63: 246-254, 2000.
[0023149]13737.Ruegsegger, U.; Blank, D.; Keller, W.: Human pre-mRNA cleavage factor I-m is related to spliceosomal SR proteins and can be reconstituted in vitro from recombinant subunits. Molec. Cell 1: 243-253, 1998.
[0023150]13738.Hall, S. L.; Padgett, R. A.: Conserved sequences in a class of rare eukaryotic nuclear introns with non-consensus splice sites. J. Molec. Biol. 239: 357-365, 1994.
[0023151]13739.Horikawa, T.; Araki, K.; Fukai, K.; Ueda, M.; Ueda, T.; Ito, S.; Ichihashi, M.: Heterozygous HPS1 mutations in a case of Hermansky-Pudlak syndrome with giant melanosomes. Brit. J. Derm. 143: 635-640, 2000.
[0023152]13740.Shotelersuk, V.; Hazelwood, S.; Larson, D.; Iwata, F.; Kaiser-Kupfer, M. I.; Kuehl, E.; Bernardini, I.; Gahl, W. A.: Three new mutations in a gene causing Hermansky-Pudlak syndrome: clinical correlations. Molec. Genet. Metab. 64: 99-107, 1998.
[0023153]13741.Wildenberg, S. C.; Fryer, J. P.; Gardner, J. M.; Oetting, W. S.; Brilliant, M. H.; King, R. A.: Identification of a novel transcript produced by the gene responsible for the Hermansky-Pudlak syndrome in Puerto Rico. J. Invest. Derm. 110: 777-781, 1998.
[0023154]13742.Bunn, R. C.; Jensen, M. A.; Reed, B. C.: Protein interactions with the glucose transporter binding protein GLUT1CBP that provide a link between GLUT1 and the cytoskeleton. Molec. Biol. Cell 10: 819-832, 1999.
[0023155]13743.De Vries, L.; Lou, X.; Zhao, G.; Zheng, B.; Farquhar, M. G.: GIPC, a PDZ domain containing protein, interacts specifically with the C terminus of RGS-GAIP. Proc. Nat. Acad. Sci. 95: 12340-12345, 1998.
[0023156]13744.Von Kap-Herr, C.; Kandala, G.; Mann, S. S.; Hart, T. C.; Pettenati, M. J.; Setaluri, V.: Assignment of PDZ domain-containing protein GIPC gene (C19orf3) to human chromosome band 19p13.1 by in situ hybridization and radiation hybrid mapping. Cytogenet. Cell Genet. 89: 234-235, 2000.
[0023157]13745.Alessi, D. R.; James, S. R.; Downes, C. P.; Holmes, A. B.; Gaffney, P. R. J.; Reese, C. B.; Cohen, P.: Characterization of a 3-phosphoinositide-dependent protein kinase which phosphorylates and activates protein kinase B-alpha. Curr. Biol. 7: 261-269, 1997.
[0023158]13746.Adams, J. C.; Seed, B.; Lawler, J.: Muskelin, a novel intracellular mediator of cell adhesive and cytoskeletal responses to thrombospondin-1. EMBO J. 17: 4964-4974, 1998.
[0023159]13747.Adams, J. C.; Zhang, L.: cDNA cloning of human muskelin and localisation of the muskelin (MKLN1) gene to human chromosome 7q32 and mouse chromosome 6B1/B2 by physical mapping and FISH. Cytogenet. Cell Genet. 87: 19-21, 1999.
[0023160]13748.Moynihan, T. P.; Ardley, H. C.; Nuber, U.; Rose, S. A.; Jones, P. F.; Markham, A. F.; Scheffner, M.; Robinson, P. A.: The ubiquitin-conjugating enzymes UbcH7 and UbcH8 interact with RING finger/IBR motif-containing domains of HHARI and H7-AP1. J. Biol. Chem. 274: 30963-30968, 1999.
[0023161]13749.Tan, N. G. S.; Ardley, H. C.; Rose, S. A.; Leek, J. P.; Markham, A. F.; Robinson, P. A.: Characterisation of the human and mouse orthologues of the Drosophila ariadne gene. Cytogenet. Cell Genet. 90: 242-245, 2000.
[0023162]13750.Janssen, J. W. G.; Imoto, I.; Inoue, J.; Shimada, Y.; Ueda, M.; Imamura, M.; Bartram, C. R.; Inazawa, J.: MYEOV, a gene at 11q13, is coamplified with CCND1, but epigenetically inactivated in a subset of esophageal squamous cell carcinomas. J. Hum. Genet. 47: 460-464, 2002.
[0023163]13751.Janssen, J. W. G.; Vaandrager, J.-W.; Heuser, T.; Jauch, A.; Kluin, P. M.; Geelen, E.; Bergsagel, P. L.; Kuehl, W. M.; Drexler, H. G.; Otsuki, T.; Bartram, C. R.; Schuuring, E.: Concurrent activation of a novel putative transforming gene, myeov, and cyclin D1 in a subset of multiple myeloma cell lines with t(11;14)(q13;q32). Blood 95: 2691-2698, 2000.
[0023164]13752.Di Cunto, F.; Calautti, E.; Hsiao, J.; Ong, L.; Topley, G.; Turco, E.; Dotto, G. P.: Citron Rho-interacting kinase, a novel tissue-specific ser/thr kinase encompassing the Rho-Rac-binding protein citron. J. Biol. Chem. 273: 29706-29711, 1998.
[0023165]13753.Di Cunto, F.; Imarisio, S.; Hirsch, E.; Broccoli, V.; Bulfone, A.; Migheli, A.; Atzori, C.; Turco, E.; Triolo, R.; Dotto, G. P.; Silengo, L.; Altruda, F.: Defective neurogenesis in citron kinase knockout mice by altered cytokinesis and massive apoptosis. Neuron 28: 115-127, 2000.
[0023166]13754.Madaule, P.; Furuyashiki, T.; Reid, T.; Ishizaki, T.; Watanabe, G.; Morii, N.; Narumiya, S.: A novel partner for the GTP-bound forms of rho and rac. FEBS Lett. 377: 243-248, 1995.
[0023167]13755.Ishizaki, J.; Suzuki, N.; Higashino, K.; Yokota, Y.; Ono, T.; Kawamoto, K.; Fujii, N.; Arita, H.; Hanasaki, K.: Cloning and characterization of novel mouse and human secretory phospholipase A(2)s. J. Biol. Chem. 274: 24973-24979, 1999.
[0023168]13756.Baudat, F.; Manova, K.; Yuen, J. P.; Jasin, M.; Keeney, S.: Chromosome synapsis defects and sexually dimorphic meiotic progression in mice lacking Spo11. Molec. Cell 6: 989-998, 2000.
[0023169]13757.Romanienko, P. J.; Camerini-Otero, R. D.: The mouse Spo11 gene is required for meiotic chromosome synapsis. Molec. Cell 6: 975-987, 2000.
[0023170]13758.Romanienko, P. J.; Camerini-Otero, R. D.: Cloning, characterization, and localization of mouse and human SPO11. Genomics 61: 156-169, 1999.
[0023171]13759.Shannon, M.; Richardson, L.; Christian, A.; Handel, M. A.; Thelen, M. P.: Differential gene expression of mammalian SPO11/TOP6A homologs during meiosis. FEBS Lett. 462: 329-334, 1999.
[0023172]13760.Lopez-Coviella, I.; Berse, B.; Krauss, R.; Thies, R. S.; Blusztajn, J. K.: Induction and maintenance of the neuronal cholinergic phenotype in the central nervous system by BMP-9. Science 289: 313-316, 2000.
[0023173]13761.Burn, T. C.; Connors, T. D.; Van Raay, T. J.; Dackowski, W. R.; Millholland, J. M.; Klinger, K. W.; Landes, G. M.: Generation of a transcriptional map for a 700-kb region surrounding the polycystic kidney disease type 1 (PKD1) and tuberous sclerosis type 2 (TSC2) disease genes on human chromosome 16p13.3. Genome Res. 6: 525-537, 1996.
[0023174]13762.Pullen, N.; Dennis, P. B.; Andjelkovic, M.; Dufner, A.; Kozma, S. C.; Hemmings, B. A.; Thomas, G.: Phosphorylation and activation of p70(s6k) by PDK1. Science 279: 707-710, 1998.
[0023175]13763.Stephens, L.; Anderson, K.; Stokoe, D.; Erdjument-Bromage, H.; Painter, G. F.; Holmes, A. B.; Gaffney, P. R. J.; Reese, C. B.; McCormick, F.; Tempst, P.; Coadwell, J.; Hawkins, P. T.: Protein kinase B kinases that mediate phosphatidylinositol 3,4,5-triphosphate-dependent activation of protein kinase B. Science 279: 710-714, 1998.
[0023176]13764.Uebele, V. N.; Lagrutta, A.; Wade, T.; Figueroa, D. J.; Liu, Y.; McKenna, E.; Austin, C. P.; Bennett, P. B.; Swanson, R.: Cloning and functional expression of two families of beta-subunits of the large conductance calcium-activated K(+) channel. J. Biol. Chem. 275: 23211-23218, 2000.
[0023177]13765.Kouroku, Y.; Soyama, A.; Fujita, E.; Urase, K.; Tsukahara, T.; Momoi, T.: RA70 is a src kinase-associated protein expressed ubiquitously. Biochem. Biophys. Res. Comm. 252: 738-742, 1998.
[0023178]13766.Liu, J.; Kang, H.; Raab, M.; da Silva, A. J.; Kraeft, S.-K.; Rudd, C. E.: FYB (FYN binding protein) serves as a binding partner for lymphoid protein and FYN kinase substrate SKAP55 and a SKAP55-related protein in T cells. Proc. Nat. Acad. Sci. 95: 8779-8784, 1998.
[0023179]13767.Marie-Cardine, A.; Verhagen, A. M.; Eckerskorn, C.; Schraven, B. : SKAP-HOM, a novel adaptor protein homologous to the FYN-associated protein SKAP55. FEBS Lett. 435: 55-60, 1998.
[0023180]13768.Chai, J.; Du, C.; Wu, J.-W.; Kyin, S.; Wang, X.; Shi, Y.: Structural and biochemical basis of apoptotic activation by Smac/DIABLO. Nature 406: 855-862, 2000.
[0023181]13769.Du, C.; Fang, M.; Li, Y.; Li, L.; Wang, X.: Smac, a mitochondrial protein that promotes cytochrome c-dependent caspase activation by eliminating IAP inhibition. Cell 102: 33-42, 2000.
[0023182]13770.Okada, H.; Suh, W.-K.; Jin, J.; Woo, M.; Du, C.; Elia, A.; Duncan, G. S.; Wakeham, A.; Itie, A.; Lowe, S. W.; Wang, X.; Mak, T. W.: Generation and characterization of Smac/DIABLOdeficient mice. Molec. Cell. Biol. 22: 3509-3517, 2002.
[0023183]13771.Scott, A. F.: Personal Communication. Baltimore, Md. 8/18/2000.
[0023184]13772.Verhagen, A. M.; Ekert, P. G.; Pakusch, M.; Silke, J.; Connolly, L. M.; Reid, G. E.; Moritz, R. L.; Simpson, R. J.; Vaux, D. L.: Identification of DIABLO, a mammalian protein that promotes apoptosis by binding to and antagonizing IAP proteins. Cell 102: 43-53, 2000.
[0023185]13773.Brown, M. L.; Ramprasad, M. P.; Umeda, P. K.; Tanaka, A.; Kobayashi, Y.; Watanabe, T.; Shimoyamada, H.; Kuo, W.-L.; Li, R.; Song, R.; Bradley, W. A.; Gianturco, S. H.: A macrophage receptor for apolipoprotein B48: cloning, expression, and atherosclerosis. Proc. Nat. Acad. Sci. 97: 7488-7493, 2000.
[0023186]13774.Behrens, R.; Nolting, A.; Reimann, F.; Schwarz, M.; Waldschutz, R.; Pongs, O.: hKCNMB3 and hKCNMB4, cloning and characterization of two members of the large-conductance calcium-activated potassium channel beta subunit family. FEBS Lett. 474: 99-106, 2000.
[0023187]13775.Brenner, R.; Jegla, T. J.; Wickenden, A.; Liu, Y.; Aldrich, R. W.: Cloning and functional characterization of novel large conductance calcium-activated potassium channel beta subunits, hKCNMB3 and hKCNMB4. J. Biol. Chem. 275: 6453-6461, 2000.
[0023188]13776.Riazi, M. A.; Brinkman-Mills, P.; Johnson, A.; Naylor, S. L.; Minoshima, S.; Shimizu, N.; Baldini, A.; McDermid, H. E.: Identification of a putative regulatory subunit of a calcium-activated potassium channel in the dup(3q) syndrome region and a related sequence on 22q11.2. Genomics 62: 90-94, 1999.
[0023189]13777.Hemmi, H.; Takeuchi, O.; Kawai, T.; Kaisho, T.; Sato, S.; Sanjo, H.; Matsumoto, M.; Hoshino, K.; Wagner, H.; Takeda, K.; Akira, S. : A toll-like receptor recognizes bacterial DNA. Nature 408: 740-745, 2000.
[0023190]13778.Leadbetter, E. A.; Rifkin, I. R.; Hohlbaum, A. M.; Beaudette, B. C.; Shlomchik, M. J.; Marshak-Rothstein, A.: Chromatin-IgG complexes activate B cells by dual engagement of IgM and Tolllike receptors. Nature 416: 603-607, 2002.
[0023191]13779.Takeshita, F.; Leifer, C. A.; Gursel, I.; Ishii, K. J.; Takeshita, S.; Gursel, M.; Klinman, D. M.: Cutting edge: role of Toll-like receptor 9 in CpG DNA-induced activation of human cells. J. Immun. 167: 3555-3558, 2001.
[0023192]13780.Verthelyi, D.; Ishii, K. J.; Gursel, M.; Takeshita, F.; Klinman, D. K.: Human peripheral blood cells differentially recognize and respond to two distinct CpG motifs. J. Immun. 166: 2372-2377, 2001.
[0023193]13781.Bagrodia, S.; Taylor, S. J.; Jordon, K. A.; Van Aelst, L.; Cerione, R. A.: A novel regulator of p21-activated kinases. J. Biol. Chem. 273: 23633-23636, 1998.
[0023194]13782.Oh, W. K.; Yoo, J. C.; Jo, D.; Song, Y. H.; Kim, M. G.; Park, D. : Cloning of a SH3 domain-containing proline-rich protein, p85SPR, and its localization in focal adhesion. Biochem. Biophys. Res. Commun. 235: 794-798, 1997.
[0023195]13783.Ehrmann, D. A.; Schwarz, P. E. H.; Hara, M.; Tang, X.; Horikawa, Y.; Imperial, J.; Bell, G. I.; Cox, N. J.: Relationship of calpain-10 genotype to phenotypic features of polycystic ovary syndrome. J. Clin. Endocr. Metab. 87: 1669-1673, 2002.
[0023196]13784.Elbein, S. C.; Chu, W.; Ren, Q.; Hemphill, C.; Schay, J.; Cox, N. J.; Hanis, C. L.; Hasstedt, S. J.: Role of calpain-10 gene variants in familial type 2 diabetes in Caucasians. J. Clin. Endocr. Metab. 87: 650-654, 2002.
[0023197]13785.Fullerton, S. M.; Bartoszewicz, A.; Ybazeta, G.; Horikawa, Y.; Bell, G. I.; Kidd, K. K.; Cox, N. J.; Hudson, R. R.; Di Rienzo, A. : Geographic and haplotype structure of candidate type 2 diabetes-susceptibility variants at the calpain-10 locus. Am. J. Hum. Genet. 70: 1096-1106, 2002.
[0023198]13786.Tsai, H.-J.; Sun, G.; Weeks, D. E.; Kaushal, R.; Wolujewicz, M.; McGarvey, S. T.; Tufa, J.; Viali, S.; Deka, R.: Type 2 diabetes and three calpain-10 gene polymorphisms in Samoans: no evidence of association. Am. J. Hum. Genet. 69: 1236-1244, 2001.
[0023199]13787.Weiss, K. M.; Terwilliger, J. D.: How many diseases does it take to map a gene with SNPs? Nature Genet. 26: 151-157, 2000.
[0023200]13788.Hanis, C. L.; Boerwinkle, E.; Chakraborty, R.; Ellsworth, D. L.; Concannon, P.; Stirling, B.; Morrison, V. A.; Wapelhorst, B.; Spielman, R. S.; Gogolin-Ewens, K. J.; Shephard, J. M.; Williams, S. R.; and 21 others: A genome-wide search for human non-insulin-dependent (type 2) diabetes genes reveals a major susceptibility locus on chromosome 2. Nature Genet. 13: 161-166, 1996.
[0023201]13789.Aung, T.; Ocaka, L.; Ebenezer, N. D.; Morris, A. G.; Brice, G.; Child, A. H.; Hitchings, R. A.; Lehmann, O. J.; Bhattacharya, S. S. : Investigating the association between OPA1 polymorphisms and glaucoma: comparison between normal tension and high tension primary open angle glaucoma. Hum. Genet. 110: 513-514, 2002.
[0023202]13790.Aung, T.; Ocaka, L.; Ebenezer, N. D.; Morris, A. G.; Krawczak, M.; Thiselton, D. L.; Alexander, C.; Votruba, M.; Brice, G.; Child, A. H.; Francis, P. J.; Hitchings, R. A.; Lehmann, O. J.; Bhattacharya, S. S.: A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene. Hum. Genet. 110: 52-56, 2002.
[0023203]13791.Liu, Z.; Chen, Y.; Mo, R.; Hui, C.; Cheng, J.-F.; Mohandas, N.; Huang, C.-H.: Characterization of human RhCG and mouse Rhcg as novel nonerythroid Rh glycoprotein homologues predominantly expressed in kidney and testis. J. Biol. Chem. 275: 25641-25651, 2000.
[0023204]13792.Kabarowski, J. H. S.; Zhu, K.; Le, L. Q.; Witte, O. N.; Xu, Y. : Lysophosphatidylcholine as a ligand for the immunoregulatory receptor G2A. Science 293: 702-705, 2001.
[0023205]13793.Wang, A.; Yang, H.-C.; Friedman, P.; Johnson, C. A.; Dennis, E. A.: A specific human lysophospholipase: cDNA cloning, tissue distribution and kinetic characterization. Biochim. Biophys. Acta 1437: 157-169, 1999.
[0023206]13794.Barker, R. L.; Gleich, G. J.; Pease, L. R.: Acidic precursor revealed in human eosinophil granule major basic protein cDNA. J. Exp. Med. 168: 1493-1498, 1988.
[0023207]13795.Li, M.-S.; Sun, L.; Satoh, T.; Fisher, L. M.; Spry, C. J. F.: Human eosinophil major basic protein, a mediator of allergic inflammation, is expressed by alternative splicing from two promoters. Biochem. J. 305: 921-927, 1995.
[0023208]13796.McGrogan, M.; Simonsen, C.; Scott, R.; Griffith, J.; Ellis, N.; Kennedy, J.; Campanelli, D.; Nathan, C.; Gabay, J.: Isolation of a complementary DNA clone encoding a precursor to human eosinophil major basic protein. J. Exp. Med. 168: 2295-2308, 1988.
[0023209]13797.Plager, D. A.; Weiler, D. A.; Loegering, D. A.; Johnson, W. B.; Haley, L.; Eddy, R. L.; Shows, T. B.; Gleich, G. J.: Comparative structure, proximal promoter elements, and chromosome location of the human eosinophil major basic protein genes. Genomics 71: 271-281, 2001.
[0023210]13798.Wasmoen, T. L.; Bell, M. P.; Loegering, D. A.; Gleich, G. J.; Prendergast, F. G.; McKean, D. J.: Biochemical and amino acid sequence analysis of human eosinophil granule major basic protein. J. Biol. Chem. 263: 12559-12563, 1988.
[0023211]13799.Weller, P. F.; Ackerman, S. J.; Smith, J. A.: Eosinophil granule proteins: major basic protein is distinct from the smaller subunit of eosinophil peroxidase. J. Leukoc. Biol. 43: 1-4, 1988.
[0023212]13800.Yoshimatsu, K.; Ohya, Y.; Shikata, Y.; Seto, T.; Hasegawa, Y.; Tanaka, I.; Kawamura, T.; Kitoh, K.; Toyoshima, S.; Osawa, T.: Purification and cDNA cloning of a novel factor produced by a human T-cell hybridoma: sequence homology with animal lectins. Molec. Immun. 29: 537-546, 1992.
[0023213]13801.Khaleghpour, K.; Svitkin, Y. V.; Craig, A. W.; DeMaria, C. T.; Deo, R. C.; Burley, S. K.; Sonenberg, N.: Translational repression by a novel partner of human poly(A) binding protein, Paip2. Molec. Cell 7: 205-216, 2001.
[0023214]13802.Scott, A. F.: Personal Communication. Baltimore, Md. 3/13/2001.
[0023215]13803.Drane, P.; Barel, M.; Balbo, M.; Frade, R.: Identification of RB18A, a 205 kDa new p53 regulatory protein which shares antigenic and functional properties with p53. Oncogene 15: 3013-3024, 1997.
[0023216]13804.Mansharamani, M.; Hewetson, A.; Chilton, B. S.: Cloning and characterization of an atypical type IV P-type ATPase that binds to the RING motif of RUSH transcription factors. J. Biol. Chem. 276: 3641-3649, 2001.
[0023217]13805.Sun, X. L.; Li, D.; Fang, J.; Noyes, I.; Casto, B.; Theil, K.; Shuler, C.; Milo, G. E.: Changes in levels of normal ML-1 gene transcripts associated with the conversion of human nontumorigenic to tumorigenic phenotypes. Gene Expr. 8: 129-139, 1999.
[0023218]13806.Lesage, F.; Terrenoire, C.; Romey, G.; Lazdunski, M.: Human TREK2, a 2P domain mechano-sensitive K+ channel with multiple regulations by polyunsaturated fatty acids, lysophospholipids, and Gs, Gi, and Gq protein-coupled receptors. J. Biol. Chem. 275: 28398-28405, 2000.
[0023219]13807.Nakayama, Y.; Weissman, S. M.; Bothwell, A. L. M.: BXMAS1 identifies a cluster of homologous genes differentially expressed in B cells. Biochem. Biophys. Res. Commun. 285: 830-837, 2001.
[0023220]13808.Bashirova, A. A.; Geijtenbeek, T. B. H.; van Duijnhoven, G. C. F.; van Vliet, S. J.; Eilering, J. B. G.; Martin, M. P.; Wu, L.; Martin, T. D.; Viebig, N.; Knolle, P. A.; KewalRamani, V. N.; van Kooyk, Y.; Carrington, M.: A dendritic cell-specific intercellular adhesion molecule 3-grabbing nonintegrin (DC-SIGN)-related protein is highly expressed on human liver sinusoidal endothelial cells and promotes HIV-1 infection. J. Exp. Med. 193: 671-678, 2001.
[0023221]13809.Maguchi, M.; Nishida, W.; Kohara, K.; Kuwano, A.; Kondo, I.; Hiwada, K.: Molecular cloning and gene mapping of human basic and acidic calponins. Biochem. Biophys. Res. Commun. 217: 238-244, 1995.
[0023222]13810.Miano, J. M.; Krahe, R.; Garcia, E.; Elliott, J. M.; Olson, E. N.: Expression, genomic structure and high resolution mapping to 19p13.2 of the human smooth muscle cell calponin gene. Gene 197: 215-224, 1997.
[0023223]13811.Miano, J. M.; Thomas, S.; Disteche, C. M.: Expression and chromosomal mapping of the mouse smooth muscle calponin gene. Mammalian Genome 12: 187-191, 2001.
[0023224]13812.Strasser, P.; Gimona, M.; Moessler, H.; Herzog, M.; Small, J. V. : Mammalian calponin: identification and expression of genetic variants. FEBS Lett. 330: 13-18, 1993.
[0023225]13813.Bogerd, H. P.; Fridell, R. A.; Madore, S.; Cullen, B. R.: Identification of a novel cellular cofactor for the Rev/Rex class of retroviral regulatory proteins. Cell 82: 485-494, 1995.
[0023226]13814.Fritz, C. C.; Zapp, M. L.; Green, M. R.: A human nucleoporin-like protein that specifically interacts with HIV Rev. Nature 376: 530-533, 1995.
[0023227]13815.Jones, T.; Sheer, D.; Bevec, D.; Kappel, B.; Hauber, J.; Steinkasserer, A.: The human HIV-1 Rev binding-protein hRIP/Rab (HRB) maps to chromosome 2q36. Genomics 40: 198-199, 1997.
[0023228]13816.Kang-Decker, N.; Mantchev, G. T.; Juneja, S. C.; McNiven, M. A.; van Deursen, J. M. A.: Lack of acrosome formation in Hrb-deficient mice. Science 294: 1531-1533, 2001.
[0023229]13817.Salcini, A. E.; Confalonieri, S.; Doria, M.; Santolini, E.; Tassi, E.; Minenkova, O.; Cesareni, G.; Pelicci, P. G.; Di Fiore, P. P.: Binding specificity and in vivo targets of the EH domain, a novel protein-protein interaction module. Genes Dev. 11: 2239-2249, 1997.
[0023230]13818.Bullrich, F.; Druck, T.; Kunapuli, P.; Gomez, J.; Gripp, K. W.; Schlegelberger, B.; Lasota, J.; Aronson, M.; Cannizzaro, L. A.; Huebner, K.; Benovic, J. L.: Chromosomal mapping of the genes GPRK5 and GPRK6 encoding G protein-coupled receptor kinases GRK5 and GRK6. Cytogenet. Cell Genet. 70: 250-254, 1995.
[0023231]13819.Haribabu, B.; Snyderman, R.: Identification of additional members of human Gprotein-coupled receptor kinase multigene family. Proc. Nat. Acad. Sci. 90: 9398-9402, 1993.
[0023232]13820.Entwistle, J.; Zhang, S.; Yang, B.; Wong, C.; Li, Q.; Hall, C. L.; Jingbo, A.; Mowat, M.; Greenberg, A. H.; Turley, E. A.: Characterization of the murine gene encoding the hyaluronan receptor RHAMM. Gene 163: 233-238, 1995.
[0023233]13821.Hall, C.; Yang, B.; Yang, X.; Zhang, S.; Turley, M.; Samuel, S.; Lange, L. A.; Wang, C.; Curpen, G. D.; Savani, R. C.; Greenberg, A. H.; Turley, E. A.: Overexpression of the hyaluronan receptor RHAMM is transforming and is also required for H-ras transformation. Cell 82: 19-28, 1995.
[0023234]13822.Hall, C. L.; Wang, C.; Lange, L. A.; Turley, E. A.: Hyaluronan and the hyaluronan receptor RHAMM promote focal adhesion turnover and transient tyrosine kinase activity. J. Cell Biol. 126: 575-588, 1994.
[0023235]13823.Hardwick, C.; Hoare, K.; Owens, R.; Hohn, H. P.; Moore, D.; Cripps, V.; Austen, L.; Nance, D. M.; Turley, E. A.: Molecular cloning of a novel hyaluronan receptor that mediates tumor cell motility. J. Cell Biol. 117: 1343-1350, 1992.
[0023236]13824.Savani, R. C.; Wang, C.; Yang, B. H.; Zhang, S. W.; Kinsella, M. G.; Wight, T. N.; Stern, R.; Nance, D. M.; Turley, E. A.: Migration of bovine aortic smooth muscle cells after wounding injury: the role of hyaluronan and RHAMM. J. Clin. Invest. 95: 1158-1168, 1995.
[0023237]13825.Spicer, A. P.; Roller, M. L.; Camper, S. A.; McPherson, J. D.; Wasmuth, J. J.; Hakim, S.; Wang, C.; Turley, E. A.; McDonald, J. A. : The human and mouse receptors for hyaluronan-mediated motility, RHAMM, genes (HMMR) map to human chromosome 5q33.2-qter and mouse chromosome 11. Genomics 30: 115-117, 1995.
[0023238]13826.Cherel, M.; Sorel, M.; Apiou, F.; Lebeau, B.; Dubois, S.; Jacques, Y.; Minvielle, S.: The human interleukin-11 receptor alpha gene (IL11RA): genomic organization and chromosome mapping. Genomics 32: 49-53, 1996.
[0023239]13827.Cherel, M.; Sorel, M.; Lebeau, B.; Dubois, S.; Moreau, J.-F.; Bataille, R.; Minvielle, S.; Jacques, Y.: Molecular cloning to two isoforms of a receptor for the human hematopoietic cytokine interleukin-11. Blood 86: 2534-2540, 1995.
[0023240]13828.Neuhaus, H.; Bettenhausen, B.; Bilinski, P.; Simon-Chazottes, D.; Guenet, J.-L.; Gossler, A.: Etl2, a novel putative type-I cytokine receptor expressed during mouse embryogenesis at high levels in skin and cells with skeletogenic potential. Dev. Biol. 166: 531-542, 1994.
[0023241]13829.Van Leuven, F.; Stas, L.; Hilliker, C.; Miyake, Y.; Bilinski, P.; Gossler, A.: Molecular cloning and characterization of the human interleukin-11 receptor alpha-chain gene, IL11RA, located on chromosome 9p13. Genomics 31: 65-70, 1996.
[0023242]13830.Magrangeas, F.; Pitiot, G.; Dubois, S.; Bragado-Nilsson, E.; Cherel, M.; Jobert, S.; Lebeau, B.; Boisteau, O.; Lethe, B.; Mallet, J.; Jacques, Y.; Minvielle, S.: Cotranscription and intergenic splicing of human galactose-1-phosphate uridylyltransferase and interleukin-11 receptor alpha-chain genes generate a fusion mRNA in normal cells: implication for the production of multidomain proteins during evolution. J. Biol. Chem. 273: 16005-16010, 1998.
[0023243]13831.Bonnemann, C. G.; Cox, G. F.; Shapiro, F.; Wu, J.-J.; Feener, C. A.; Thompson, T. G.; Anthony, D. C.; Eyre, D. R.; Darras, B. T.; Kunkel, L. M.: A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy. Proc. Nat. Acad. Sci. 97: 1212-1217, 2000.
[0023244]13832.Paassilta, P.; Lohiniva, J.; Annunen, S.; Bonaventure, J.; Le Merrer, M.; Pai, L.; Ala-Kokko, L.: COL9A3: a third locus for multiple epiphyseal dysplasia. Am. J. Hum. Genet. 64: 1036-1044, 1999.
[0023245]13833.Avraham, K. B.; Hasson, T.; Sobe, T.; Balsara, B.; Testa, J. R.; Skvorak, A. B.; Morton, C. C.; Copeland, N. G.; Jenkins, N. A.: Characterization of unconventional MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice. Hum. Molec. Genet. 6: 1225-1231, 1997.
[0023246]13834.Avraham, K. B.; Hasson, T.; Steel, K. P.; Kingsley, D. M.; Russell, L. B.; Mooseker, M. S.; Copeland, N. G.; Jenkins, N. A.: The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells. Nature Genet. 11: 369-375, 1995.
[0023247]13835.Hasson, T.; Mooseker, M. S.: Porcine myosin-VI: characterization of a new mammalian unconventional myosin. J. Cell. Biol. 127: 425-440, 1994.
[0023248]13836.Hasson, T.; Skowron, J. F.; Gilbert, D. J.; Avraham, K. B.; Perry, W. L.; Bement, W. M.; Anderson, B. L.; Sherr, E. H.; Chen, Z.-Y.; Greene, L. A.; Ward, D. C.; Corey, D. P.; Mooseker, M. S.; Copeland, N. G.; Jenkins, N. A.: Mapping of unconventional myosins in mouse and human. Genomics 36: 431-439, 1996.
[0023249]13837.Rock, R. S.; Rice, S. E.; Wells, A. L.; Purcell, T. J.; Spudich, J. A.; Sweeney, H. L.: Myosin VI is a processive motor with a large step size. Proc. Nat. Acad. Sci. 98: 13655-13659, 2001.
[0023250]13838.Wells, A. L.; Lin, A. W.; Chen, L.-Q.; Safer, D.; Cain, S. M.; Hasson, T.; Carragher, B. O.; Milligan, R. A.; Sweeney, H. L.: Myosin VI is an actin-based motor that moves backwards. Nature 401: 505-508, 1999.
[0023251]13839.Melchionda, S.; Ahituv, N.; Bisceglia, L.; Sobe, T.; Glaser, F.; Rabionet, R.; Arbones, M. L.; Notarangelo, A.; Di Iorio, E.; Carella, M.; Zelante, L.; Estivill, X.; Avraham, K. B.; Gasparini, P.: MYO6, the human homologue of the gene responsible for deafness in Snell's Waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss. Am. J. Hum. Genet. 69: 635-640, 2001.
[0023252]13840.Bonne, S.; van Hengel, J.; van Roy, F.: Chromosomal mapping of human armadillo genes belonging to the p120(ctn)/plakophilin subfamily. Genomics 51: 452-454, 1998.
[0023253]13841.Drab, M.; Verkade, P.; Elger, M.; Kasper, M.; Lohn, M.; Lauterbach, B.; Menne, J.; Lindschau, C.; Mende, F.; Luft, F. C.; Schedl, A.; Haller, H.; Kurzchalia, T. V.: Loss of caveolae, vascular dysfunction, and pulmonary defects in caveolin-1 gene-disrupted mice. Science 293: 2449-2452, 2001.
[0023254]13842.Engelman, J. A.; Zhang, X.; Galbiati, F.; Volonte, D.; Sotgia, F.; Pestell, R. G.; Minetti, C.; Scherer, P. E.; Okamoto, T.; Lisanti, M. P.: Molecular genetics of the caveolin gene family: implications for human cancers, diabetes, Alzheimer disease, and muscular dystrophy. Am. J. Hum. Genet. 63: 1578-1587, 1998.
[0023255]13843.Engelman, J. A.; Zhang, X. L.; Galbiati, F.; Lisanti, M. P.: Chromosomal localization, genomic organization, and developmental expression of the murine caveolin gene family (Cav-1, -2, and -3): Cav-1 and Cav-2 genes map to a known tumor suppressor locus (6-A2/7q31). FEBS Lett. 429: 330-336, 1998.
[0023256]13844.Engelman, J. A.; Zhang, X. L.; Lisanti, M. P.: Genes encoding human caveolin-1 and -2 are co-localized to the D7S522 locus (7q31.1), a known fragile site (FRA7G) that is frequently deleted in human cancers. FEBS Lett. 436: 403-410, 1998.
[0023257]13845.Feron, O.; Dessy, C.; Moniotte, S.; Desager, J.-P.; Balligand, J.-L.: Hypercholesterolemia decreases nitric oxide production by promoting the interaction of caveolin and endothelial nitric oxide synthase. J. Clin. Invest. 103: 897-905, 1999.
[0023258]13846.Giordano, S.; Ponzetto, C.; Di Renzo, M. F.; Cooper, C. S.; Comoglio, P. M.: Tyrosine kinase receptor indistinguishable from the c-met protein. Nature 339: 155-156, 1989.
[0023259]13847.Glenney, J. R., Jr.: The sequence of human caveolin reveals identity with VIP21, a component of transport vesicles. FEBS Lett. 314: 45-48, 1992.
[0023260]13848.Kurzchalia, T. V.; Dupree, P.; Parton, R. G.; Kellner, R.; Virta, H.; Lehnert, M.; Simons, K.: VIP21, a 21-kD membrane protein is an integral component of trans-Golgi-network-derived transport vesicles. J. Cell Biol. 118 1003-1014, 1992.
[0023261]13849.Scherer, P. E.; Okamoto, T.; Chun, M.; Nishimoto, I.; Lodish, H. F.; Lisanti, M. P.: Identification, sequence, and expression of caveolin-2 defines a caveolin gene family. Proc. Nat. Acad. Sci. 93: 131-135, 1996.
[0023262]13850.Scherer, P. E.; Tang, Z.; Chun, M.; Sargiacomo, M.; Lodish, H. F.; Lisanti, M. P.: Caveolin isoforms differ in their N-terminal protein sequence and subcellular distribution: identification and epitope mapping of an isoform-specific monoclonal antibody probe. J. Biol. Chem. 270 16395-16401, 1995.
[0023263]13851.Razani, B.; Engelman, J. A.; Wang, X. B.; Schubert, W.; Zhang, X. L.; Marks, C. B.; Macaluso, F.; Russell, R. G.; Li, M.; Pestell, R. G.; Di Vizio, D.; Hou, H., Jr.; Kneitz, B.; Lagaud, G.; Christ, G. J.; Edelmann, W.; Lisanti, M. P.: Caveolin-1 null mice are viable but show evidence of hyperproliferative and vascular abnormalities. J. Biol. Chem. 276: 38121-38138, 2001.
[0023264]13852.Taipale, J.; Chen, J. K.; Cooper, M. K.; Wang, B.; Mann, R. K.; Milenkovic, L.; Scott, M. P.; Beachy, P. A.: Effects of oncogenic mutations in Smoothened and Patched can be reversed by cyclopamine. Nature 406: 1005-1009, 2000.
[0023265]13853.Taipale, J.; Cooper, M. K.; Maiti, T.; Beachy, P. A.: Patched acts catalytically to suppress the activity of Smoothened. Nature 418: 892-897, 2002.
[0023266]13854.Bell, D. R.; Plant, N. J.; Rider, C. G.; Na, L.; Brown, S.; Ateitalla, I.; Acharya, S. K.; Davies, M. H.; Elias, E.; Jenkins, N. A.; Gilbert, D. J.; Copeland, N. G.; Elcombe, C. R.: Species-specific induction of cytochrome P-450 4A RNAs: PCR cloning of partial guinea-pig, human and mouse CYP4A cDNAs. Biochem. J. 294: 173-180, 1993.
[0023267]13855.Imaoka, S.; Ogawa, H.; Kimura, S.; Gonzalez, F. J.: Complete cDNA sequence and cDNA-directed expression of CYP4A11, a fatty acid omega-hydroxylase expressed in human kidney. DNA Cell Biol. 12: 893-899, 1993.
[0023268]13856.Kawashima, H.; Kusunose, E.; Kikuta, Y.; Kinoshita, H.; Tanaka, S.; Yamamoto, S.; Kishimoto, T.; Kusunose, M.: Purification and cDNA cloning of human liver CYP4A fatty acid omegahydroxylase. J. Biochem. 116: 74-80, 1994.
[0023269]13857.Palmer, C. N. A.; Richardson, T. H.; Griffin, K. J.; Hsu, M.-H.; Muerhoff, A. S.; Clark, J. E.; Johnson, E. F.: Characterization of a cDNA encoding a human kidney, cytochrome P-450 4A fatty acid omega-hydroxylase and the cognate enzyme expressed in Escherichia coli. Biochim. Biophys. Acta 1172: 161-166, 1993.
[0023270]13858.Aziz, N.; Maxwell, M. M.; St.-Jacques, B.; Brenner, B.: Down-regulation of Ke6, a novel gene encoded within the major histocompatibility complex, in murine polycystic kidney disease. Molec. Cell. Biol. 13: 1847-1853, 1993.
[0023271]13859.Aziz, N.; Maxwell, M. M.; St.-Jacques, B.; Brenner, B.: Coordinate regulation of 11-beta-HSD and Ke6 gene in cpk mouse: implications for steroid metabolic defect in PKD. Am. J. Physiol. 267: F791-F797, 1994.
[0023272]13860.Muller, J.; Ory, S.; Copeland, T.; Piwnica-Worms, H.; Morrison, D. K.: C-TAK1 regulates Ras signaling by phosphorylating the MAPK scaffold, KSR1. Molec. Cell 8: 983-993, 2001.
[0023273]13861.Bione, S.; Maestrini, E.; Rivella, S.; Mancini, M.; Regis, S.; Romeo, G.; Toniolo, D.: Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nature Genet. 8: 323-327, 1994.
[0023274]13862.Bione, S.; Small, K.; Aksmanovic, V. M. A.; D'Urso, M.; Ciccodicola, A.; Merlini, L.; Morandi, L.; Kress, W.; Yates, J. R. W.; Warren, S. T.; Toniolo, D.: Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease. Hum. Mol. Genet. 4: 1859-1863, 1995.
[0023275]13863.Bione, S.; Tamanini, F.; Maestrini, E.; Tribioli, C.; Poustka, A.; Torri, G.; Rivella, S.; Toniolo, D.: Transcriptional organization of a 450-kb region of the human X chromosome in Xq28. Proc. Nat. Acad. Sci. 90: 10977-10981, 1993.
[0023276]13864.Boswinkel, E.; Walker, A.; Hodgson, S.; Benham, F.; Bobrow, M.; Davies, K.; Dubowitz, V.; Grenata, C.: Linkage analysis using eight DNA polymorphisms along the length of the X chromosome locates the gene for Emery-Dreyfuss muscular dystrophy to distal Xq. (Abstract) Cytogenet. Cell Genet. 40: 586 only, 1985.
[0023277]13865.Rosenthal, R. L.: Haemorrhage in PTA (factor XI) deficiency. (Abstract) Proc. 10th Int. Cong. Soc. Hemat., Stockholm , 1964.
[0023278]13866.Laporte, J.; Hu, L. J.; Kretz, C.; Mandel, J.-L.; Kioschis, P.; Coy, J. F.; Klauck, S. M.; Poustka, A.; Dahl, N.: A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nature Genet. 13: 175-182, 1996.
[0023279]13867.Kogut, M. D.; Donnell, G. N.; Nyhan, W. L.; Sweetman, L.: Disorder of purine metabolism due to partial deficiency of hypoxanthine-guanine phosphoribosyltransferase. Am. J. Med. 48: 148-161, 1970.
[0023280]13868.Koller, B. H.; Hagemann, L. J.; Doetschman, T.; Hagaman, J. R.; Huang, S.; Williams, P. J.; First, N. L.; Maeda, N.; Smithies, O. : Germ-line transmission of a planned alteration made in a hypoxanthine phosphoribosyltransferase gene by homologous recombination in embryonic stem cells. Proc. Nat. Acad. Sci. 86: 8927-8931, 1989.
[0023281]13869.Kuehn, M. R.; Bradley, A.; Robertson, E. J.; Evans, M. J.: A potential animal model for Lesch-Nyhan syndrome through introduction of HPRT mutations into mice. Nature 326: 295-298, 1987.
[0023282]13870.Lesch, M.; Nyhan, W. L.: A familial disorder of uric acid metabolism and central nervous system function. Am. J. Med. 36: 561-570, 1964.
[0023283]13871.Lightfoot, T.; Joshi, R.; Nuki, G.; Snyder, F. F.: The point mutation of hypoxanthineguanine phosphoribosyltransferase (HPRT-Edinburgh) and detection by allele-specific polymerase chain reaction. Hum. Genet. 88: 695-696, 1992.
[0023284]13872.Lightfoot, T.; Lewkonia, R. M.; Snyder, F. F.: Sequence, expression and characterization of HPRT-Moose Jaw: a point mutation resulting in cooperativity and decreased substrate affinities. Hum. Molec. Genet. 3: 1377-1381, 1994.
[0023285]13873.Malleson, P. N.; Fung, M. Y.; Rosenberg, A. M.: The incidence of pediatric rheumatic diseases: results from the Canadian Pediatric Rheumatology Association Disease Registry. J. Rheum. 23: 1981-1987, 1996.
[0023286]13874.Marcus, S.; Steen, A.-M.; Andersson, B.; Lambert, B.; Kristoffersson, U.; Francke, U.: Mutation analysis and prenatal diagnosis in a Lesch-Nyhan family showing non-random X-inactivation interfering with carrier detection tests. Hum. Genet. 89: 395-400, 1992.
[0023287]13875.McDonald, J. A.; Kelley, W. N.: Lesch-Nyhan syndrome: absence of the mutant enzyme in erythrocytes of a heterozygote for both normal and mutant hypoxanthine-guanine phosphoribosyl transferase. Biochem. Genet. 6: 21-26, 1972.
[0023288]13876.McKeran, R. O.; Andrews, T. M.; Howell, A.; Gibbs, D. A.; Chinn, S.; Watts, R. W. E.: The diagnosis of the carrier state for the Lesch-Nyhan syndrome. Quart. J. Med. 44: 189-206, 1975.
[0023289]13877.Melton, D. W.; Konecki, D. S.; Brennand, J.; Caskey, C. T.: Structure, expression, and mutation of the hypoxanthine phosphoribosyltransferase gene. Proc. Nat. Acad. Sci. 81: 2147-2151, 1984.
[0023290]13878.Migeon, B. R.: X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: detection of heterozygotes by selective medium. Biochem. Genet. 4: 377-383, 1970.
[0023291]13879.Miller, A. D.; Jolly, D. J.; Friedmann, T.; Verma, I. M.: A transmissible retrovirus expressing human hypoxanthine phosphoribosyltransferase (HPRT): gene transfer into cells obtained from humans deficient in HPRT. Proc. Nat. Acad. Sci. 80: 4709-4713, 1983.
[0023292]13880.Mizunuma, M.; Fujimori, S.; Ogino, H.; Ueno, T.; Inoue, H.; Kamatani, N.: A recurrent large Alu-mediated deletion in the hypoxanthine phosphoribosyltransferase (HPRT1) gene associated with Lesch-Nyhan syndrome. Hum. Mutat. 18: 435-443, 2001.
[0023293]13881.Monk, M.; Handyside, A.; Hardy, K.; Whittingham, D.: Preimplantation diagnosis of deficiency of hypoxanthine phosphoribosyl transferase in a mouse model for Lesch-Nyhan syndrome. Lancet II: 423-425, 1987.
[0023294]13882.Monk, M.; Handyside, A.; Muggleton-Harris, A.; Whittingham, D. : Preimplantation sexing and diagnosis of hypoxanthine phosphoribosyl transferase deficiency in mice by biochemical microassay. Am. J. Med. Genet. 35: 201-205, 1990.
[0023295]13883.Monnat, R. J., Jr.; Chiaverotti, T. A.; Hackmann, A. F. M.; Maresh, G. A.: Molecular structure and genetic stability of human hypoxanthine phosphoribosyltransferase (HPRT) gene duplications. Genomics 13: 788-796, 1992.
[0023296]13884.Myers, R. M.; Larin, A.; Maniatis, T.: Detection of single base substitutions by ribonuclease cleavage at mismatches in RNA:DNA duplexes. Science 230: 1242-1246, 1985.
[0023297]13885.Newcombe, D. S.; Shapiro, S. L.; Sheppard, G. L., Jr.; Dreifuss, F. E.: Treatment of Xlinked primary hyperuricemia with allopurinol. J.A.M.A. 198: 315-317, 1966.
[0023298]13886.Nussbaum, R. L.; Crowder, W. E.; Nyhan, W. L.; Caskey, C. T.: A three-allele restriction-fragment-length polymorphism at the hypoxanthine phosphoribosyltransferase locus in man. Proc. Nat. Acad. Sci. 80: 4035-4039, 1983.
[0023299]13887.Netchine, I.; Sobrier, M.-L.; Krude, H.; Schnabel, D.; Maghnie, M.; Marcos, E.; Duriez, B.; Cacheux, V.; Moers, A. V.; Goossens, M.; Gruters, A.; Amselem, S.: Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency. Nature Genet. 25: 182-186, 2000.
[0023300]13888.Rosenthal, R. L.; Dreskin, O. H.; Rosenthal, N.: Plasma thromboplastin antecedent (PTA) deficiency: clinical, coagulation, therapeutic and hereditary aspects of a new hemophilia-like disease. Blood 10: 120-131, 1955.
[0023301]13889.Seligsohn, U.: Factor XI (PTA) deficiency.In: Goodman, R. E.; Motulsky, A. G.: Genetic Diseases Among Ashkenazi Jews. New York: Raven Press (pub.) 1979. Pp. 141-148.
[0023302]13890.Vinazzer, H.: Partieller familiaerer Faktor-XI-Mangel. Blut 15: 263-267, 1967.
[0023303]13891.Wistinghausen, B.; Reischer, A.; Oddoux, C.; Ostrer, H.; Nardi, M.; Karpatkin, M.: Severe factor XI deficiency in an Arab family associated with a novel mutation in exon 11. Brit. J. Haemat. 99: 575-577, 1997.
[0023304]13892.Zivelin, A.; Bauduer, F.; Ducout, L.; Peretz, H.; Rosenberg, N.; Yatuv, R.; Seligsohn, U.: Factor XI deficiency in French Basques is caused predominantly by an ancestral cys38-to-arg mutation in the factor XI gene. Blood 99: 2448-2454, 2002.
[0023305]13893.Inoue, K.; Tanabe, Y.; Lupski, J. R.: Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation. Ann. Neurol. 46: 313-318, 1999.
[0023306]13894.Touraine, R. L.; Attie-Bitach, T.; Manceau, E.; Korsch, E.; Sarda, P.; Pingault, V.; Encha-Razavi, F.; Pelet, A.; Auge, J.; Nivelon-Chevallier, A.; Holschneider, A. M.; Munnes, M.; Doerfler, W.; Goossens, M.; Munnich, A.; Vekemans, M.; Lyonnet, S.: Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain. Am. J. Hum. Genet. 66: 1496-1503, 2000. Note: Erratum: Am. J. Hum. Genet. 66: 2020 only, 2000.
[0023307]13895.De Smet, C.; Lurquin, C.; van der Bruggen, P.; De Plaen, E.; Brasseur, F.; Boon, T.: Sequence and expression pattern of the human MAGE2 gene. Immunogenetics 39: 121-129, 1994.
[0023308]13896.Chambost, H.; Van Baren, N.; Brasseur, F.; Godelaine, D.; Xerri, L.; Landi, S. J.; Theate, I.; Plumas, J.; Spagnoli, G. C.; Michel, G.; Coulie, P. G.; Olive, D.: Expression of gene MAGEA4 in Reed-Sternberg cells. Blood 95: 3530-3533, 2000.
[0023309]13897.Nagase, T.; Ishikawa, K.; Suyama, M.; Kikuno, R.; Miyajima, N.; Tanaka, A.; Kotani, H.; Nomura, N.; Ohara, O.: Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. DNA Res. 5: 277-286, 1998.
[0023310]13898.Hasstedt, S. J.; Atkin, C. L.: X-linked inheritance of Alport syndrome: family P revisited. Am. J. Hum. Genet. 35: 1241-1251, 1983.
[0023311]13899.Scherer, S. S.; Deschenes, S. M.; Xu, Y.; Grinspan, J. B.; Fischbeck, K. H.; Paul, D. L.: Connexin32 is a myelin-related protein in the PNS and CNS. J. Neurosci. 15: 8281-8294, 1995.
[0023312]13900.Gospe, S. M., Jr.; Lazaro, R. P.; Lava, N. S.; Grootscholten, P. M.; Scott, M. O.; Fischbeck, K. H.: Familial X-linked myalgia and cramps: a nonprogressive myopathy associated with a deletion in the dystrophin gene. Neurology 39: 1277-1280, 1989.
[0023313]13901.Kingston, H. M.; Sarfarazi, M.; Thomas, N. S. T.; Harper, P. S. : Localisation of the Becker muscular dystrophy gene on the short arm of the X chromosome by linkage to cloned DNA sequences. Hum. Genet. 67: 6-17, 1984.
[0023314]13902.Kingston, H. M.; Thomas, N. S. T.; Pearson, P. L.; Sarfarazi, M.; Harper, P. S.: Genetic linkage between Becker muscular dystrophy and a polymorphic DNA sequence on the short arm of the X chromosome. J. Med. Genet. 20: 255-258, 1983.
[0023315]13903.Gilbert, F.; Kucherlapati, R. S.; Creagan, R. P.; Murnane, M. J.; Darlington, G. J.; Ruddle, F. H.: Tay-Sachs' and Sandhoff's diseases: the assignment of genes for hexosaminidase A and B to individual human chromosomes. Proc. Nat. Acad. Sci. 72: 263-267, 1975.
[0023316]13904.Derry, J. M. J.; Jess, U.; Francke, U.: Cloning and characterization of a novel zinc finger gene in Xp11.2. Genomics 30: 361-365, 1995.
[0023317]13905.Derry, J. M. J.; Kerns, J. A.; Francke, U.: RBM3, a novel human gene in Xp11.23 with a putative RNA-binding domain. Hum. Molec. Genet. 4: 2307-2311, 1995.
[0023318]13906.Hirst, M. C.; Barnicoat, A.; Flynn, G.; Wang, Q.; Daker, M.; Buckle, V. J.; Davies, K. E.; Bobrow, M.: The identification of a third fragile site, FRAXF, in Xq27-q28 distal to both FRAXA and FRAXE. Hum. Molec. Genet. 2: 197-200, 1993.
[0023319]13907.Ades, L. C.; Kerr, B.; Turner, G.; Wise, G.: Smith-Fineman-Myers syndrome in two brothers. Am. J. Med. Genet. 40: 467-470, 1991.
[0023320]13908.Bachoo, S.; Gibbons, R. J.: Germline and gonosomal mosaicism in the ATR-X syndrome. Europ. J. Hum. Genet. 7: 933-936, 1999.
[0023321]13909.Berube, N. G.; Jagla, M.; Smeenk, C.; De Repentigny, Y.; Kothary, R.; Picketts, D. J.: Neurodevelopmental defects resulting from ATRX overexpression in transgenic mice. Hum. Molec. Genet. 11: 253-261, 2002.
[0023322]13910.Berube, N. G.; Smeenk, C. A.; Picketts, D. J.: Cell cycle-dependent phosphorylation of the ATRX protein correlates with changes in nuclear matrix and chromatin association. Hum. Molec. Genet. 9: 539-547, 2000.
[0023323]13911.Cardoso, C.; Timsit, S.; Villard, L.; Khrestchatisky, M.; Fontes, M.; Colleaux, L.: Specific interaction between the XNP/ATR-X gene product and the SET domain of the human EZH2 protein. Hum. Molec. Genet. 7: 679-684, 1998.
[0023324]13912.Gibbons, R. J.; Bachoo, S.; Picketts, D. J.; Aftimos, S.; Asenbauer, B.; Bergoffen, J.; Berry, S. A.; Dahl, N.; Fryer, A.; Keppler, K.; Kurosawa, K.; Levin, M. L.; Masuno, M.; Neri, G.; Pierpont, M. E.; Slaney, S. F.; Higgs, D. R.: Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain. (Letter) Nature Genet. 17: 146-148, 1998.
[0023325]13913.Grover, S.; Fishman, G. A.; Anderson, R. J.; Lindeman, M.: A longitudinal study of visual function in carriers of X-linked recessive retinitis pigmentosa. Ophthalmology 107: 386-396, 2000.
[0023326]13914.Hunter, D. G.; Fishman, G. A.; Kretzer, F. L.: Abnormal axonemes in X-linked retinitis pigmentosa. Arch. Ophthal. 106: 362-368, 1988.
[0023327]13915.Matsumoto, T.; Kondoh, T.; Yoshimoto, M.; Fujieda, K.; Matsuura, N.; Matsuda, I.; Miike, T.; Yano, K.; Okuno, A.; Aoki, Y.; Murano, I.; Toyota, S.; Ohnishi, S.; Niikawa, N.: Complex glycerol kinase deficiency: molecular-genetic, cytogenetic, and clinical studies of five Japanese patients. Am. J. Med. Genet. 31: 603-616, 1988.
[0023328]13916.Ament, M. E.; Ochs, H. D.: Gastrointestinal manifestations of chronic granulomatous disease. New Eng. J. Med. 288: 382-387, 1973.
[0023329]13917.Ariga, T.; Furuta, H.; Cho, K.; Sakiyama, Y.: Genetic analysis of 13 families with Xlinked chronic granulomatous disease reveals a low proportion of sporadic patients and a high proportion of sporadic carriers. Pediat. Res. 44: 85-92, 1998.
[0023330]13918.Babior, B. M.: Personal Communication. Boston, Mass. 3/26/1974.
[0023331]13919.Babior, B. M.; Crowley, C. A.: Chronic granulomatous disease and other disorders of oxidative killing by phagocytes.In: Stanbury, J. B.; Wyngaarden, J. B.; Fredrickson, D. S.; Goldstein, J. L.; Brown, M. S.: The Metabolic Basis of Inherited Disease. New York: McGraw-Hill (pub.) 1983. Pp. 1965-1985.
[0023332]13920.Baehner, R. L.; Karnovsky, M. L.: Deficiency of reduced nicotinamide-adenine dinucleotide oxidase in chronic granulomatous disease. Science 162: 1277-1279, 1968.
[0023333]13921.Baehner, R. L.; Kunkel, L. M.; Monaco, A. P.; Haines, J. L.; Conneally, P. M.; Palmer, C.; Heerema, N.; Orkin, S. H.: DNA linkage analysis of X chromosome-linked chronic granulomatous disease. Proc. Nat. Acad. Sci. 83: 3398-3401, 1986.
[0023334]13922.Baehner, R. L.; Nathan, D. G.: Leukocyte oxidase: defective activity in chronic granulomatous disease. Science 155: 835-836, 1967.
[0023335]13923.Biggar, W. D.: Phagocytosis in patients and carriers of chronic granulomatous disease. Lancet I: 991-994, 1975.
[0023336]13924.Nyhan, W. L.; Resek, J.; Sweetman, L.; Carpenter, D. G.; Carter, C. H.: Genetics of an X-linked disorder of uric acid metabolism and cerebral function. Pediat. Res. 1: 5-13, 1967.
[0023337]13925.Ogasawara, N.; Stout, J. T.; Goto, H.; Sonta, S.; Matsumoto, A.; Caskey, C. T.: Molecular analysis of a female Lesch-Nyhan patient. J. Clin. Invest. 84: 1024-1027, 1989.
[0023338]13926.Pai, G. S.; Sprenkle, J. A.; Do, T. T.; Mareni, C. E.; Migeon, B. R.: Localization of loci for hypoxanthine phosphate dehydrogenase and glucose-6-phosphate dehydrogenase and biochemical evidence of nonrandom X chromosome expression from studies of a human X-autosome translocation. Proc. Nat. Acad. Sci. 77: 2810-2813, 1980. 100. Palella, T. D.: Personal Communication. Ann Arbor, Mich. 1/15/1990. 101. Patel, P. I.; Framson, P. E.; Caskey, C. T.; Chinault, A. C. : Fine structure of the human hypoxanthine phosphoribosyltransferase gene. Molec. Cell. Biol. 6: 393-403, 1986. 102. Race, R. R.; Sanger, R.: Blood Groups in Man. Philadelphia: F. A. Davis Co. (pub.) (5th ed.): 1968. Pp. 545 only. 103. Renwick, P. J.; Birley, A. J.; McKeown, C. M. E.; Hulten, M. : Southern analysis reveals a large deletion at the hypoxanthine phosphoribosyltransferase locus in a patient with Lesch-Nyhan syndrome. Clin. Genet. 48: 80-84, 1995. 104. Rijksen, G.; Staal, G. E. J.; van der Vlist, M. J. M.; Beemer, F. A.; Troost, J.; Gutensohn, W.; van Laarhoven, J. P. R. M.; de Bruyn, C. H. M. M.: Partial hypoxanthineguanine phosphoribosyl transferase deficiency with full expression of the Lesch-Nyhan syndrome. Hum. Genet. 57: 39-47, 1981. 105. Rosenbloom, F. M.; Kelley, W. N.; Henderson, J. F.; Seegmiller, J. E.: Lyon hypothesis and X-linked disease. (Letter) Lancet II: 305-306, 1967. 106. Rosenbloom, F. M.; Kelley, W. N.; Miller, J.; Henderson, J. F.; Seegmiller, J. E.: Inherited disorder of purine metabolism: correlation between central nervous system dysfunction and biochemical defects. J.A.M.A. 202: 175-177, 1967. 107. Rosenstraus, M.; Chasin, L. A.: Isolation of mammalian cell mutants deficient in glucose-6-phosphate dehydrogenase activity: linkage to hypoxanthine phosphoribosyl transferase. Proc. Nat. Acad. Sci. 72: 493-497, 1975. 108. Ross, J. A.; Robison, L. L.: MLL rearrangements in infant leukemia: is there a higher frequency in females? Leukemia Res. 21: 793-795, 1997. 109. Rossiter, B. J. F.; Edwards, A.; Caskey, C. T.: HPRT mutation and the Lesch-Nyhan syndrome.In: Brosius, J.; Freneau, R.: Molecular Genetic Approaches to Neuropsychiatric Disease. New York: Academic Press (pub.) 1991. 110. Ruddle, F. H.: Linkage studies employing mouse-man somatic cell hybrids. Fed. Proc. 30: 921-925, 1971. 111. Saidi, N.; Hors-Cayla, M. C.; Van Cong, N.; Benne, F.: Sheep gene mapping by somatic cell hybridization. (Abstract) Cytogenet. Cell Genet. 25: 200 only, 1979. 112. Sass, J. K.; Itabashi, H. H.; Dexter, R. A.: Juvenile gout with brain involvement. Arch. Neurol. 13: 639-655, 1965. 113. Sculley, D. G.; Dawson, P. A.; Beacham, I. R.; Emmerson, B. T.; Gordon, R. B.: Hypoxanthine-guanine phosphoribosyltransferase deficiency: analysis of HPRT mutations by direct sequencing and allele-specific amplification. Hum. Genet. 87: 688-692, 1991. 114. Sculley, D. G.; Dawson, P. A.; Emmerson, B. T.; Gordon, R. B. : A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Hum. Genet. 90: 195-207, 1992. 115. Seegmiller, J. E.: Contributions of Lesch-Nyhan syndrome to the understanding of purine metabolism. J. Inherit. Metab. Dis. 12: 184-196, 1989. 116. Seegmiller, J. E.; Rosenbloom, F. M.; Kelley, W. N.: Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis. Science 155: 1682-1684, 1967. 117. Shapiro, S. L.; Sheppard, G. L., Jr.; Dreifuss, F. E.; Newcombe, D. S.: X-linked recessive inheritance of a syndrome of mental retardation with hyperuricemia. Proc. Soc. Exp. Biol. Med. 122: 609-611, 1966. 118. Shows, T. B.; Brown, J. A.: Human X-linked genes regionally mapped utilizing X-autosome translocations and somatic cell hybrids. Proc. Nat. Acad. Sci. 72: 2125-2129, 1975. 119. Shows, T. B.; Brown, J. A.; Chapman, V. M.: Comparative gene mapping of HPRT, G6PD and PGK in man, mouse, and muntjac deer. Birth Defects Orig. Art. Ser. XII(7): 436-439, 1976. 120. Silvers, D. N.; Cox, R. P.; Balis, M. E.; Dancis, J.: Detection of the heterozygote in Lesch-Nyhan disease by hair-root analysis. New Eng. J. Med. 286: 390-395, 1972. 121. Simpson, D.; Crosby, R. M.; Skopek, T. R.: A method for specific cloning and sequencing of human HPRT cDNA for mutation analysis. Biochem. Biophys. Res. Commun. 151: 487-492, 1988. 122. Sinnett, D.; Lavergne, L.; Melancon, S. B.; Dallaire, L.; Potier, M.; Labuda, D.: Lesch-Nyhan syndrome: molecular investigation of three French Canadian families using a hypoxanthineguanine phosphoribosyltransferase cDNA probe. Hum. Genet. 81: 4-8, 1988. 123. Skopek, T. R.; Recio, L.; Simpson, D.; Dallaire, L.; Melancon, S. B.; Ogier, H.; O'Neill, J. P.; Falta, M. T.; Nicklas, J. A.; Albertini, R. J.: Molecular analyses of a Lesch-Nyhan syndrome mutation (HPRT-Montreal) by use of Tlymphocyte cultures. Hum. Genet. 85: 111-116, 1990. 124. Snyder, F. F.; Chudley, A. E.; MacLeod, P. M.; Carter, R. J.; Fung, E.; Lowe, J. K.: Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase with reduced affinity for PP-ribose-P in four related males with gout. Hum. Genet. 67: 18-22, 1984. 125. Snyder, F. F.; Joyce, J. E.; Carter-Edwards, T.; Joshi, R.; Rylance, H. L.; Wallace, R. C.; Nuki, G.: Hypoxanthine-guanine phosphoribosyltransferase deficiency in three brothers with gout: characterization of a variant, HPRT(Edinburgh), having altered isoelectric point, increased thermal lability and normal levels of messenger RNA. J. Inherit. Metab. Dis. 12: 390-402, 1989. 126. Sperling, O.; Frank, M.; Ophir, R.; Liberman, U. A.; Adam, A.; De Vries, A.: Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase associated with gout and uric acid lithiasis. Europ. J. Clin. Biol. Res. 15: 942-947, 1970. 127. Srivastava, T.; O'Neill, J. P.; Dasouki, M.; Simckes, A. M.: Childhood hyperuricemia and acute renal failure resulting from a missense mutation in the HPRT gene. Am. J. Med. Genet. 108: 219-222, 2002. 128. Stout, J. T.; Caskey, C. T.: HPRT: gene structure, expression, and mutation. Annu. Rev. Genet. 19: 127-148, 1985. 129. Stout, J. T.; Caskey, C. T.: Personal Communication. Houston, Tex. 5/5/1984. 130. Strauss, G. H.; Allen, E. F.; Albertini, R. J.: An enumerative assay of purine analogue resistant lymphocytes in women heterozygous for the Lesch-Nyhan mutation. Biochem. Genet. 18: 529-547, 1980. 131. Strauss, M.; Lubbe, L.; Geissler, E.: HGPRT structural gene mutation in Lesch-Nyhan-syndrome as indicated by antigenic activity and reversion of the enzyme deficiency. Hum. Genet. 57: 185-188, 1981. 132. Tarle, S. A.; Davidson, B. L.; Wu, V. C.; Zidar, F. J.; Seegmiller, J. E.; Kelley, W. N.; Palella, T. D.: Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects. Genomics 10: 499-501, 1991. 133. Toyo-Oka, T.; Hanaoka, F.; Akaoka, I.; Yamada, M.-A.: X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency without neurological disorders: a report of a family. Clin. Genet. 7: 181-185, 1975. 134. van Bogaert, P.; Ceballos, I.; Desguerre, I.; Telvi, L.; Kamoun, P.; Ponsot, G.: Lesch Nyhan syndrome in a girl. J. Inherit. Metab. Dis. 15: 790-791, 1992. 135. Vogel, F.: A probable sex difference in some mutation rates. (Editorial) Am. J. Hum. Genet. 29: 312-319, 1977. 136. Willers, I.; Held, K. R.; Singh, S.; Goedde, H. W.: Genetic heterogeneity of hypoxanthine-phosphoribosyl transferase in human fibroblasts of 3 families. Clin. Genet. 11: 193-200, 1977. 137. Wilson, J. M.; Baugher, B. W.; Landa, L.; Kelley, W. N.: Human hypoxanthine-guanine phosphoribosyltransferase: purification and characterization of mutant forms of the enzyme. J. Biol. Chem. 256: 10306-10312, 1981. 138. Wilson, J. M.; Baugher, B. W.; Mattes, P. M.; Daddona, P. E.; Kelley, W. N.: Human hypoxanthine-guanine phosphoribosyltransferase: demonstration of structural variants in lymphoblastoid cells derived from patients with a deficiency of the enzyme. J. Clin. Invest. 69: 706-715, 1982. 139. Wilson, J. M.; Frossard, P.; Nussbaum, R. L.; Caskey, C. T.; Kelley, W. N.: Human hypoxanthine-guanine phosphoribosyltransferase: detection of a mutant allele by restriction endonuclease analysis. J. Clin. Invest. 72: 767-772, 1983. 140. Wilson, J. M.; Kelley, W. N.: Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome. J. Clin. Invest. 71: 1331-1335, 1983. 141. Wilson, J. M.; Kelley, W. N.: Human hypoxanthine-guanine phosphoribosyltransferase: structural alteration in a dysfunctional enzyme variant (HPRT-Munich) isolated from a patient with gout. J. Biol. Chem. 259: 27-30, 1984. 142. Wilson, J. M.; Kobayashi, R.; Fox, I. H.; Kelley, W. N.: Human hypoxanthine-guanine phosphoribosyltransferase: molecular abnormality in a mutant form of the enzyme (HPRT-Toronto). J. Biol. Chem. 258: 6458-6460, 1983. 143. Wilson, J. M.; Stout, J. T.; Palella, T. D.; Davidson, B. L.; Kelley, W. N.; Caskey, C. T.: A molecular survey of hypoxanthine-guanine phosphoribosyltransferase deficiency in man. J. Clin. Invest. 77: 188-195, 1986. 144. Wilson, J. M.; Tarr, G. E.; Kelley, W. N.: Human hypoxanthine (guanine) phosphoribosyltransferase: an amino acid substitution in a mutant form of the enzyme isolated from a patient with gout. Proc. Nat. Acad. Sci. 80: 870-873, 1983. 145. Wilson, J. M.; Young, A. B.; Kelley, W. N.: Hypoxanthine-guanine phosphoribosyltransferase deficiency: the molecular basis of the clinical syndromes. New Eng. J. Med. 309: 900-910, 1983. 146. Winter, R. M.: Estimation of male to female ratio of mutation rates from carrier-detection tests in X-linked disorders. Am. J. Hum. Genet. 32: 582-588, 1980. 147. Wong, D. F.; Harris, J. C.; Naidu, S.; Yokoi, F.; Marenco, S.; Dannals, R. F.; Ravert, H. T.; Yaster, M.; Evans, A.; Rousset, O.; Bryan, R. N.; Gjedde, A.; Kuhar, M. J.; Breese, G. R.: Dopamine transporters are markedly reduced in Lesch-Nyhan disease in vivo. Proc. Nat. Acad. Sci. 93: 5539-5543, 1996. 148. Wu, C.-L.; Melton, D. W.: Production of a model for Lesch-Nyhan syndrome in hypoxanthine phosphoribosyltransferase-deficient mice. Nature Genet. 3: 235-239, 1993. 149. Yang, T. P.; Patel, P. I.; Chinault, A. C.; Stout, J. T.; Jackson, L. G.; Hildebrand, B. M.; Caskey, C. T.: Molecular evidence for new mutation at the HPRT locus in Lesch-Nyhan patients. Nature 310: 412-414, 1984. 150. Yang, T. P.; Stout, J. T.; Konecki, D. S.; Patel, P. I.; Alford, R. L.; Caskey, C. T.: Spontaneous reversion of novel Lesch-Nyhan mutation by HPRT gene rearrangement. Somat. Cell Molec. Genet. 14: 293-303, 1988. 151. Yu, T.-F.; Balis, M. E.; Krenitsky, T. A.; Dancis, J.; Silvers, D. N.; Elion, G. B.; Gutman, A. B.: Rarity of X-linked partial hypoxanthine-guanine phosphoribosyltransferase deficiency in a large gouty population. Ann. Intern. Med. 76: 255-264, 1972. 152. Zannis, V. I.; Gudas, L. J.; Martin, D. W., Jr.: Characterization of the subunit composition of HGPRTase from human erythrocytes and cultured fibroblasts. Biochem. Genet. 18: 1-19, 1980. 153. Zoref, E.; Sperling, O.: Increased de novo purine synthesis in cultured skin fibroblasts from heterozygotes for the Lesch-Nyhan syndrome: a sensitive marker for carrier detection. Hum. Hered. 29: 64-68, 1979. 154. Zoref-Shani, E.; Feinstein, S.; Frishberg, Y.; Bromberg, Y.; Sperling, O.: Kelley-Seegmiller syndrome due to a unique variant of hypoxanthine-guanine phosphoribosyltransferase: reduced affinity for 5-phosphoribosyl-1-pyrophosphate manifested only at low, physiological substrate concentrations. Biochim. Biophys. Acta 1500: 197-203, 2000.
[0023339]13927.Adam, A.; Ziprkowski, L.; Feinstein, A.; Sanger, R.; Tippett, P.; Gavin, J.; Race, R. R.: Linkage relations of X-borne ichthyosis to the Xg blood groups and to other markers of the X in Israelis. Ann. Hum. Genet. 32: 323-332, 1969.
[0023340]13928.Alperin, E. S.; Shapiro, L. J.: Characterization of point mutations with X-linked ichthyosis: effects on the structure and function of the steroid sulfatase protein. J. Biol. Chem. 272: 20756-20763, 1997.
[0023341]13929.Andria, G.; Ballabio, A.; Parenti, G.: X-linked ichthyosis due to steroid sulfatase deficiency associated with hypogonadism and anosmia. (Letter) Ann. Neurol. 22: 98, 1987.
[0023342]13930.Andria, G.; Ballabio, A.; Parenti, G.; Di Maio, S.; Piccirillo, A.: Steroid sulphatase deficiency is present in patients with the syndrome 'ichthyosis and male hypogonadism' and with 'Rud syndrome.'. J. Inherit. Metab. Dis. 7: 159-160, 1984.
[0023343]13931.Bairoch, A.: Personal Communication. Geneva, Switzerland 5/13/1994.
[0023344]13932.Balazs, I.; Filippi, G.; Rinaldi, A.; Grzeschik, K.-H.; Siniscalco, M.: Studies on Xlinked ichthyosis and steroid sulfatase in man, mice and their hybrids. (Abstract) Cytogenet. Cell Genet. 25: 133, 1979.
[0023345]13933.Ballabio, A.: Personal Communication. Houston, Tex. 5/18/1994.
[0023346]13934.Ballabio, A.; Parenti, G.; Carrozzo, R.; Coppa, G.; Felici, L.; Migliori, V.; Silengo, M.; Franceschini, P.; Andria, G.: X/Y translocation in a family with X-linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene. Clin. Genet. 34: 31-37, 1988.
[0023347]13935.Ballabio, A.; Parenti, G.; Carrozzo, R.; Sebastio, G.; Andria, G.; Buckle, V.; Fraser, N.; Craig, I.; Rocchi, M.; Romeo, G.; Jobsis, A. C.; Persico, M. G.: Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis. Proc. Nat. Acad. Sci. 84: 4519-4523, 1987.
[0023348]13936.Ballabio, A.; Sebastio, G.; Carrozzo, R.; Parenti, G.; Piccirillo, A.; Persico, M. G.; Andria, G.: Deletions of the steroid sulphatase gene in 'classical' X-linked ichthyosis and in X-linked ichthyosis associated with Kallmann syndrome. Hum. Genet. 77: 338-341, 1987.
[0023349]13937.Broughton, B. C.; Cordonnier, A.; Kleijer, W. J.; Jaspers, N. G. J.; Fawcett, H.; Raams, A.; Garritsen, V. H.; Stary, A.; Avril, M.-F.; Boudsocq, F.; Masutani, C.; Hanaoka, F.; Fuchs, R. P.; Sarasin, A.; Lehmann, A. R.: Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patients. Proc. Nat. Acad. Sci. 99: 815-820, 2002.
[0023350]13938.Haracska, L.; Yu, S.-L.; Johnson, R. E.; Prakash, L.; Prakash, S.: Efficient and accurate replication in the presence of 7,8-dihydro-8-oxoguanine by DNA polymerase eta. Nature Genet. 25: 458-461, 2000.
[0023351]13939.Johnson, R. E.; Prakash, S.; Prakash, L.: Efficient bypass of a thymine-thymine dimer by yeast DNA polymerase, Pol-eta. Science 283: 1001-1004, 1999.
[0023352]13940.Limoli, C. L.; Giedzinski, E.; Morgan, W. F.; Cleaver, J. E.: Polymerase eta deficiency in the xeroderma pigmentosum variant uncovers an overlap between the S phase checkpoint and doublestrand break repair. Proc. Nat. Acad. Sci. 97: 7939-7946, 2000.
[0023353]13941.Masutani, C.; Araki, M.; Yamada, A.; Kusumoto, R.; Nogimori, T.; Maekawa, T.; Iwai, S.; Hanaoka, F.: Xeroderma pigmentosum variant (XP-V) correcting protein from HeLa cells has a thymine dimer bypass DNA polymerase activity. EMBO J. 18: 3491-3501, 1999.
[0023354]13942.Matsuda, T.; Bebenek, K.; Masutani, C.; Hanaoka, F.; Kunkel, T. A.: Low fidelity DNA synthesis by human DNA polymerase-eta. Nature 404: 1011-1013, 2000.
[0023355]13943.Yamada, A.; Masutani, C. Iwai, S.; Hanaoka, F.: Complementation of defective translesion synthesis and UV light sensitivity in xeroderma pigmentosum variant cells by human and mouse DNA polymerase eta. Nucleic Acids Res. 28: 2473-2480, 2000.
[0023356]13944.Yuasa, M.; Masutani, C.; Eki, T.; Hanaoka, F.: Genomic structure, chromosomal localization and identification of mutations in the xeroderma pigmentosum variant (XPV) gene. Oncogene 19: 4721-4728, 2000.
[0023357]13945.Kamal, A.; Stokin, G. B.; Yang, Z.; Xia, C.-H.; Goldstein, L. S. : Axonal transport of amyloid precursor protein is mediated by direct binding to the kinesin light chain subunit of kinesin-I. Neuron 28: 449-459, 2000.
[0023358]13946.Luo, Y.; Bolon, B.; Kahn, S.; Bennett, B. D.; Babu-Khan, S.; Denis, P.; Fan, W.; Kha, H.; Zhang, J.; Gong, Y.; Martin, L.; Louis, J.-C.; Yan, Q.; Richards, W. G.; Citron, M.; Vassar, R.: Mice deficient in BACE1, the Alzheimer's beta-secretase, have normal phenotype and abolished beta-amyloid generation. Nature Neurosci. 4: 231-232, 2001.
[0023359]13947.Okamoto, N.; Hori, S.; Akazawa, C.; Hayashi, Y.; Shigemoto, R.; Mizuno, N.; Nakanishi, S.: Molecular characterization of a new metabotropic glutamate receptor mGluR7 coupled to inhibitory cyclic AMP signal transduction. J. Biol. Chem. 269: 1231-1236, 1994.
[0023360]13948.Ango, F.; Prezeau, L.; Muller, T.; Tu, J. C.; Xiao, B.; Worley, P. F.; Pin, J. P.; Bockaert, J.; Fagni, L.: Agonist-independent activation of metabotropic glutamate receptors by the intracellular protein Homer. Nature 411: 962-965, 2001.
[0023361]13949.Asai, K.; Fujita, K.; Yamamoto, M.; Hotta, T.; Morikawa, M.; Kokubo, M.; Moriyama, A.; Kato, T.: Isolation of novel human cDNA (hGMF-gamma) homologous to glia maturation factor-beta gene. Biochim. Biophys. Acta 1396: 242-244, 1998.
[0023362]13950.Peters, N.; Smith, J. S.; Tachibana, I.; Lee, H. K.; Pohl, U.; Portier, B. P.; Louis, D. N.; Jenkins, R. B.: The human glia maturation factor-gamma gene: genomic structure and mutation analysis in gliomas with chromosome 19q loss. Neurogenetics 2: 163-166, 1999.
[0023363]13951.Kowalski, P. E.; Freeman, J. D.; Nelson, D. T.; Mager, D. L.: Genomic structure and evolution of a novel gene (PLA2L) with duplicated phospholipase A2-like domains. Genomics 39: 38-46, 1997.
[0023364]13952.Liu, M.; Parker, R. M. C.; Darby, K.; Eyre, H. J.; Copeland, N. G.; Crawford, J.; Gilbert, D. J.; Sutherland, G. R.; Jenkins, N. A.; Herzog, H.: GPR56, a novel secretin-like human Gprotein-coupled receptor gene. Genomics 55: 296-305, 1999.
[0023365]13953.Zendman, A. J. W.; Cornelissen, I. M. H. A.; Weidle, U. H.; Ruiter, D. J.; van Muijen, G. N. P.: TM7XN1, a novel human EGF-TM7-like cDNA, detected with mRNA differential display using human melanoma cell lines with different metastatic potential. FEBS Lett. 446: 292-298, 1999.
[0023366]13954.Champliaud, M.-F.; Burgeson, R. E.; Jin, W.; Baden, H. P.; Olson, P. F.: cDNA cloning and characterization of sciellin, a LIM domain protein of the keratinocyte cornified envelope. J. Biol. Chem. 273: 31547-31554, 1998.
[0023367]13955.Nicolaou, M.; Song, Y.-Q.; Sato, C. A.; Orlacchio, A.; Kawarai, T.; Medeiros, H.; Liang, Y.; Sorbi, S.; Richard, E.; Rogaev, E. I.; Moliaka, Y.; Bruni, A. C.; Jorge, R.; Percy, M.; Duara, R.; Farrer, L. A.; St George-Hyslop, P.; Rogaeva, E. A.: Mutations in the open reading frame of the betasite APP cleaving enzyme (BACE) locus are not a common cause of Alzheimer's disease. Neurogenetics 3: 203-206, 2001.
[0023368]13956.Saunders, A. J.; Kim, T.-W.; Tanzi, R. E.: BACE maps to chromosome 11 and a BACE homolog, BACE2, reside in the obligate Down syndrome region of chromosome 21. Science 286: 1255a, 1999. Note: Electronic Publication.
[0023369]13957.Sinha, S.; Anderson, J. P.; Barbour, R.; Basi, G. S.; Caccavello, R.; Davis, D.; Doan, M.; Dovey, H. F.; Frigon, N.; Hong, J.; Jacobson-Croak, K.; Jewett, N.; and 15 others: Purification and cloning of amyloid precursor protein beta-secretase from human brain. Nature 402: 537-540, 1999.
[0023370]13958.Vassar, R.; Bennett, B. D.; Babu-Khan, S.; Kahn, S.; Mendiaz, E. A.; Dents, P.; Taplow, D. B.; Ross, S.; Amaranta, P.; Loeloff, R.; Luo, Y.; Fisher, S.; and 12 others: Beta-secretase cleavage of Alzheimer's amyloid precursor protein by the transmembrane aspartic protease BACE. Science 286: 735-741, 1999.
[0023371]13959.Yan, R.; Bienkowski, M. J.; Shuck, M. E.; Miao, H.; Tory, M. C.; Pauley, A. M.; Brashler, J. R.; Stratman, N. C.; Mathews, W. R.; Buhl, A. E.; Carter, D. B.; Tomasselli, A. G.; Parodi, L. A.; Heinrikson, R. L.; Gurney, M. E.: Membrane-anchored aspartyl protease with Alzheimer's disease beta-secretase activity. Nature 402: 533-536, 1999.
[0023372]13960.Kusuda, J.; Hirai, M.; Toyoda, A.; Tanuma, R.; Hashimoto, K.: Cloning and chromosome mapping of the human casein kinase I gamma-3 gene (CSNK1G3). Cytogenet. Cell Genet. 83: 101-103, 1998.
[0023373]13961.Jagla, K.; Dolle, P.; Mattei, M.-G.; Jagla, T.; Schuhbaur, B.; Dretzen, G.; Bellard, F.; Bellard, M.: Mouse Lbx1 and human LBX1 define a novel mammalian homeobox gene family related to the Drosophila lady bird genes. Mech. Dev. 53: 345-356, 1995.
[0023374]13962.Mennerich, D.; Schafer, K.; Braun, T.: Pax-3 is necessary but not sufficient for lbx1 expression in myogenic precursor cells of the limb. Mech. Dev. 73: 147-158, 1998.
[0023375]13963.Schafer, K.; Braun, T.: Early specification of limb muscle precursor cells by the homeobox gene Lbx1h. Nature Genet. 23: 213-216, 1999.
[0023376]13964.Wilson, P. J.; McGlinn, E.; Marsh, A.; Evans, T.; Arnold, J.; Wright, K.; Biden, K.; Young, J.; Wainwright, B.; Wicking, C.; Chenevix-Trench, G.: Sequence variants of DLC1 in colorectal and ovarian tumours. Hum. Mutat. 15: 156-165, 2000.
[0023377]13965.Yuan, B.-Z.; Miller, M. J.; Keck, C. L.; Zimonjic, D. B.; Thorgeirsson, S. S.; Popescu, N. C.: Cloning, characterization, and chromosomal localization of a gene frequently deleted in human liver cancer (DLC-1) homologous to rat RhoGAP. Cancer Res. 58: 2196-2199, 1998.
[0023378]13966.Yuan, B.-Z.; Yang, Y.; Keck-Waggoner, C. L.; Zimonjic, D. B.; Thorgeirsson, S. S.; Popescu, N. C.: Assignment and cloning of mouse Arhgap7 to chromosome 8A4-B2, a conserved syntenic region of human chromosome 8p22-p21. Cytogenet. Cell Genet. 87: 189-190, 1999.
[0023379]13967.Barbieri, A. M.; Lupo, G.; Bulfone, A.; Andreazzoli, M.; Mariani, M.; Fougerousse, F.; Consalez, G. G.; Borsani, G.; Beckmann, J. S.; Barsacchi, G.; Ballabio, A.; Banfi, S.: A homeobox gene, vax2, controls the patterning of the eye dorsoventral axis. Proc. Nat. Acad. Sci. 96: 10729-10734, 1999.
[0023380]13968.Mitsuuchi, Y.; Johnson, S. W.; Sonoda, G.; Tanno, S.; Golemis, E. A.; Testa, J. R.: Identification of a chromosome 3p14.3-21.1 gene, APPL, encoding an adaptor molecule that interacts with the oncoprotein-serine/threonine kinase AKT2. Oncogene 18: 4891-4898, 1999.
[0023381]13969.Fleming, R. E.; Sly, W. S.: Ferroportin mutation in autosomal dominant hemochromatosis: loss of function, gain in understanding. J. Clin. Invest. 108: 521-522, 2001.
[0023382]13970.Aita, V. M.; Liang, X. H.; Murty, V. V. V. S.; Pincus, D. L.; Yu, W.; Cayanis, E.; Kalachikov, S.; Gilliam, T. C.; Levine, B.: Cloning and genomic organization of beclin 1, a candidate tumor suppressor gene on chromosome 17q21. Genomics 59: 59-65, 1999.
[0023383]13971.Liang, X. H.; Jackson, S.; Seaman, M.; Brown, K.; Kempkes, B.; Hibshoosh, H.; Levine, B.: Induction of autophagy and inhibition of tumorigenesis by beclin 1. Nature 402: 672-676, 1999.
[0023384]13972.Liang, X. H.; Kleeman, L. K.; Jiang, H. H.; Gordon, G.; Goldman, J. E.; Berry, G.; Herman, B.; Levine, B.: Protection against fatal Sindbis virus encephalitis by beclin, a novel Bcl-2-interacting protein. J. Virol. 72: 8586-8596, 1998.
[0023385]13973.Liang, X. H.; Yu, J.; Brown, K.; Levine, B.: Beclin 1 contains a leucine-rich nuclear export signal that is required for its autophagy and tumor suppressor function. Cancer Res. 61: 3443-3449, 2001.
[0023386]13974.Sudbrak, R.; Brown, J.; Dobson-Stone, C.; Carter, S.; Ramser, J.; White, J.; Healy, E.; Dissanayake, M.; Larregue, M.; Perrussel, M.; Lehrach, H.; Munro, C. S.; Strachan, T.; Burge, S.; Hovnanian, A.; Monaco, A. P.: Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca2+ pump. Hum. Molec. Genet. 9: 1131-1140, 2000.
[0023387]13975.Hatamura, I.; Kanauchi, Y.; Takahara, M.; Fujiwara, M.; Muragaki, Y.; Ooshima, A.; Ogino, T.: A nonsense mutation in TRPS1 in a Japanese family with tricho-rhino-phalangeal syndrome type I. (Letter) Clin. Genet. 59: 366-367, 2001.
[0023388]13976.Hilton, M. J.; Sawyer, J. M.; Gutierrez, L.; Hogart, A.; Kung, T. C.; Wells, D. E.: Analysis of novel and recurrent mutations responsible for the tricho-rhino-phalangeal syndromes. J. Hum. Genet. 47: 103-106, 2002.
[0023389]13977.Holmes, D. I. R.; Wahab, N. A.; Mason, R. M.: Identification of glucose-regulated genes in human mesangial cells by mRNA differential display. Biochem. Biophys. Res. Commun. 238: 179-184, 1997.
[0023390]13978.Miller, A. F.; Harvey, S. A. K.; Thies, R. S.; Olson, M. S.: Bone morphogenetic protein-9: an autocrine/paracrine cytokine in the liver. J. Biol. Chem. 275: 17937-17945, 2000.
[0023391]13979.Scott, A. F.: Personal Communication. Baltimore, Md. 7/13/2000.
[0023392]13980.Lin, C.-Y.; Anders, J.; Johnson, M.; Sang, Q. A.; Dickson, R. B. : Molecular cloning of cDNA for matriptase, a matrix-degrading serine protease with trypsin-like activity. J. Biol. Chem. 274: 18231-18236, 1999.
[0023393]13981.Oberst, M.; Anders, J.; Xie, B.; Singh, B.; Ossandon, M.; Johnson, M.; Dickson, R. B.; Lin, C.-Y.: Matriptase and HAI-1 are expressed by normal and malignant epithelial cells in vitro and in vivo. Am. J. Path. 158: 1301-1311, 2001.
[0023394]13982.Kandil, E.; Kohda, K.; Ishibashi, T.; Tanaka, K.; Kasahara, M. : PA28 subunits of the mouse proteasome: primary structures and chromosomal localization of the genes. Immunogenetics 46: 337-344, 1997.
[0023395]13983.Nikaido, T.; Shimada, K.; Shibata, M.; Hata, M.; Sakamoto, M.; Takasaki, Y.; Sato, C.; Takahashi, T.; Nishida, Y.: Cloning and nucleotide sequence of cDNA for Ki antigen, a highly conserved nuclear protein detected with sera from patients with systemic lupus erythematosus. Clin. Exp. Immun. 79: 209-214, 1990.
[0023396]13984.Kim, Y.-O.; Park, S.-H.; Kang, Y.-J.; Koh, H.-J.; Kim, S.-H.; Park, S.-Y.; Sohn, U.; Huh, T.-L.: Assignment of mitochondrial NAD(+)-specific isocitrate dehydrogenase beta subunit gene (IDH3B) to human chromosome band 20p13 by in situ hybridization and radiation hybrid mapping. Cytogenet. Cell Genet. 86: 240-241, 1999.
[0023397]13985.Miyake, A.; Mochizuki, S.; Yokoi, H.; Kohda, M.; Furuichi, K.: New ether-a-go-go K(+) channel family members localized in human telencephalon. J. Biol. Chem. 274: 25018-25025, 1999.
[0023398]13986.Acampora, D.; Postiglione, M. P.; Avantaggiato, V.; Di Bonito, M.; Vaccarino, F. M.; Michaud, J.; Simeone, A.: Progressive impairment of developing neuroendocrine cell lineages in the hypothalamus of mice lacking the Orthopedia gene. Genes Dev. 13: 2787-2800, 1999.
[0023399]13987.Lin, X.; State, M. W.; Vaccarino, F. M.; Greally, J.; Hass, M.; Leckman, J. F.: Identification, chromosomal assignment, and expression analysis of the human homeodomain-containing gene Orthopedia (OTP). Genomics 60: 96-104, 1999.
[0023400]13988.Pessino, A.; Sivori, S.; Bottino, C.; Malaspina, A.; Morelli, L.; Moretta, L.; Biassoni, R.; Moretta, A.: Molecular cloning of NKp46: a novel member of the immunoglobulin superfamily involved in triggering of natural cytotoxicity. J. Exp. Med. 188: 953-960, 1998.
[0023401]13989.Sivori, S.; Vitale, M.; Morelli, L.; Sanseverino, L.; Augugliaro, R.; Bottino, C.; Moretta, L.; Moretta, A.: p46, a novel natural killer cell-specific surface molecule that mediates cell activation. J. Exp. Med. 186: 1129-1136, 1997.
[0023402]13990.Vankayalapati, R.; Wizel, B.; Weis, S. E.; Safi, H.; Lakey, D. L.; Mandelboim, O.; Samten, B.; Porgador, A.; Barnes, P. F.: The NKp46 receptor contributes to NK cell lysis of mononuclear phagocytes infected with an intracellular bacterium. J. Immun. 168: 3451-3457, 2002.
[0023403]13991.Chen, X.-Z.; Vassilev, P. M.; Basora, N. Peng, J.-B.; Nomura, H.; Segal, Y.; Brown, E. M.; Reeders, S. T.; Hediger, M. A.; Zhou, J. : Polycystin-L is a calcium-regulated cation channel permeable to calcium ions. Nature 401: 383-386, 1999.
[0023404]13992.Guo, L.; Chen, M.; Basora, N.; Zhou, J.: The human polycystic kidney disease 2-like (PKDL) gene: exon/intron structure and evidence for a novel splicing mechanism. Mammalian Genome 11: 46-50, 2000.
[0023405]13993.Nomura, H.; Turco, A. E.; Pei, Y.; Kalaydjieva, L.; Schiavello, T.; Weremowicz, S.; Ji, W.; Morton, C. C.; Meisler, M.; Reeders, S. T.; Zhou, J.: Identification of PKDL, a novel polycystic kidney disease 2-like gene whose murine homologue is deleted in mice with kidney and retinal defects. J. Biol. Chem. 273: 25967-25973, 1998.
[0023406]13994.Wu, G.; Hayashi, T.; Park, J.-H.; Dixit, M.; Reynolds, D. M.; Li, L.; Maeda, Y.; Cai, Y.; Coca-Prados, M.; Somlo, S.: Identification of PKD2L, a human PKD2-related gene: tissue-specific expression and mapping to chromosome 10q25. Genomics 54: 564-568, 1998.
[0023407]13995.Gongora, C.; David, G.; Pintard, L.; Tissot, C.; Hua, T. D.; Dejean, A.; Mechti, N.: Molecular cloning of a new interferon-induced PML nuclear body-associated protein. J. Biol. Chem. 272: 19457-19463, 1997.
[0023408]13996.Mattei, M. G.; Tissot, C.; Gongora, C.; Mechti, N.: Assignment of ISG20 encoding a new interferon-induced PML nuclear body-associated protein, to chromosome 15q26 by in situ hybridization. Cytogenet. Cell Genet. 79: 286-287, 1997.
[0023409]13997.Pentecost, B. T.: Expression and estrogen regulation of the HEM45 mRNA in human tumor lines and in the rat uterus. J. Steroid Biochem. Molec. Biol. 64: 25-33, 1998.
[0023410]13998.Berchtold, S.; Muhl-Zurbes, P.; Heufler, C.; Winklehner, P.; Schuler, G.; Steinkasserer, A.: Cloning, recombinant expression and biochemical characterization of the murine CD83 molecule which is specifically upregulated during dendritic cell maturation. FEBS Lett. 461: 211-216, 1999.
[0023411]13999.Fujimoto, Y.; Tu, L.; Miller, A. S.; Bock, C.; Fujimoto, M.; Doyle, C.; Steeber, D. A.; Tedder, T. F.: CD83 expression influences CD4+ T cell development in the thymus. Cell 108: 755-767, 2002.
[0023412]14000.Kozlow, E. J.; Wilson, G. L.; Fox, C. H.; Kehrl, J. H.: Subtractive cDNA cloning of a novel member of the Ig gene superfamily expressed at high levels in activated B lymphocytes. Blood 81: 454-461, 1993.
[0023413]14001.Olavesen, M.G.; Bentley, E.; Mason, R. V.; Stephens, R. J.; Ragoussis, J.: Fine mapping of 39 ESTs on human chromosome 6p23-p25. Genomics 46: 303-306, 1997.
[0023414]14002.Scholler, N.; Hayden-Ledbetter, M.; Hellstrom, K.-E.; Hellstrom, I.; Ledbetter, J. A.: CD83 is a sialic acid-binding Ig-like lectin (Siglec) adhesion receptor that binds monocytes and a subset of activated CD8(+) T cells. J. Immun. 166: 3865-3872, 2001.
[0023415]14003.Stankewich, M. C.; Tse, W. T.; Peters, L. L.; Ch'ng, Y.; John, K. M.; Stabach, P. R.; Devarajan, P.; Morrow, J. S.; Lux, S. E.: A widely expressed beta-III spectrin associated with Golgi and cytoplasmic vesicles. Proc. Nat. Acad. Sci. 95: 14158-14163, 1998.
[0023416]14004.Bakker, A. B. H.; Baker, E.; Sutherland, G. R.; Phillips, J. H.; Lanier, L. L.: Myeloid DAP12-associating lectin (MDL)-1 is a cell surface receptor involved in the activation of myeloid cells. Proc. Nat. Acad. Sci. 96: 9792-9796, 1999.
[0023417]14005.St-Pierre, M. V.; Hagenbuch, B.; Ugele, B.; Meier, P. J.; Stallmach, T.: Characterization of an organic anion-transporting polypeptide (OATP-B) in human placenta. J. Clin. Endocr. Metab. 87: 1856-1863, 2002.
[0023418]14006.Reczek, D.; Berryman, M.; Bretscher, A.: Identification of EBP50: a PDZ-containing phosphoprotein that associates with members of the ezrin-radixin-moesin family. J. Cell Biol. 139: 169-179, 1997.
[0023419]14007.Lin, B.; White, J. T.; Ferguson, C.; Bumgarner, R.; Friedman, C.; Trask, B.; Ellis, W.; Lange, P.; Hood, L.; Nelson, P. S.: PART-1: a novel human prostate-specific, androgen-regulated gene that maps to chromosome 5q12. Cancer Res. 60: 858-863, 2000.
[0023420]14008.Horowitz, D. S.; Krainer, A. R.: A human protein required for the second step of premRNA splicing is functionally related to a yeast splicing factor. Genes Dev. 11: 139-151, 1997.
[0023421]14009.Boucher, C. A.; Winchester, C. L.; Hamilton, G. M.; Winter, A. D.; Johnson, K. J.; Bailey, M. E. S.: Structure, mapping and expression of the human gene encoding the homeodomain protein, SIX2. Gene 247: 145-151, 2000.
[0023422]14010.Hasan, S.; Stucki, M.; Hassa, P. O.; Imhof, R.; Gehrig, P.; Hunziker, P.; Hubscher, U.; Hottiger, M. O.: Regulation of human flap endonuclease-1 activity by acetylation through the transcriptional coactivator p300. Molec. Cell 7: 1221-1231, 2001.
[0023423]14011.Hiraoka, L. R.; Harrington, J. J.; Gerhard, D. S.; Lieber, M. R.; Hsieh, C.-L.: Sequence of human FEN-1, a structure-specific endonuclease, and chromosomal localization of the gene (FEN1) in mouse and human. Genomics 25: 220-225, 1995.
[0023424]14012.Hosfield, D. J.; Mol, C. D.; Shen, B.; Tainer, J. A.: Structure of the DNA repair and replication endonuclease and exonuclease FEN-1: coupling DNA and PCNA binding to FEN-1 activity. Cell 95: 135-146, 1998.
[0023425]14013.Kucherlapati, M.; Yang, K.; Kuraguchi, M.; Zhao, J.; Lia, M.; Heyer, J.; Kane, M. F.; Fan, K.; Russell, R.; Brown, A. M. C.; Kneitz, B.; Edelmann, W.; Kolodner, R. D.; Lipkin, M.; Kucherlapati, R.: Haploinsufficiency of Flap endonuclease (Fen1) leads to rapid tumor progression. Proc. Nat. Acad. Sci. 99: 9924-9929, 2002.
[0023426]14014.Otto, C. J.; Almqvist, E.; Hayden, M. R.; Andrew, S. E.: The 'flap' endonuclease gene FEN1 is excluded as a candidate gene implicated in the CAG repeat expansion underlying Huntington disease. Clin. Genet. 59: 122-127, 2001.
[0023427]14015.Spiro, C.; Pelletier, R.; Rolfsmeier, M. L.; Dixon, M. J.; Lahue, R. S.; Gupta, G.; Park, M. S.; Chen, X.; Mariappan, S. V. S.; McMurray, C. T.: Inhibition of FEN-1 processing by DNA secondary structure at trinucleotide repeats. Molec. Cell 4: 1079-1085, 1999.
[0023428]14016.Tishkoff, D. X.; Filosi, N.; Gaida, G. M.; Kolodner, R. D.: A novel mutation avoidance mechanism dependent on S. cerevisiae RAD27 is distinct from DNA mismatch repair. Cell 88: 253-263, 1997.
[0023429]14017.Vermeesch, J. R.; Mertens, G.; David, G.; Marynen, P.: Assignment of the human glypican gene (GPC1) to 2q35-q37 by fluorescence in situ hybridization. Genomics 25: 327-329, 1995.
[0023430]14018.Ono, Y.; Ohno, M.; Shimura, Y.: Identification of a putative RNA helicase (HRH1), a human homolog of yeast Prp22. Molec. Cell. Biol. 14: 7611-7620, 1994.
[0023431]14019.Okumura, K.; Nogami, M.; Taguchi, H.; Dean, F. B.; Chen, M.; Pan, Z.-Q.; Hurwitz, J.; Shiratori, A.; Murakami, Y.; Ozawa, K.; Eki, T. : Assignment of the 36.5-kDa (RFC5), 37-kDa (RFC4), 38-kDa (RFC3), and 40-kDa (RFC2) subunit genes of human replication factor C to chromosome bands 12q24.2-q24.3, 3q27, 13q12.3-q13, and 7q11.23. Genomics 25: 274-278, 1995.
[0023432]14020.Peoples, R.; Perez-Jurado, L.; Wang, Y.-K.; Kaplan, P.; Francke, U.: The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion. (Letter) Am. J. Hum. Genet. 58: 1370-1373, 1996.
[0023433]14021.Wang, Y.; Cortez, D.; Yazdi, P.; Neff, N.; Elledge, S. J.; Qin, J.: BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures. Genes Dev. 14: 927-939, 2000.
[0023434]14022.Thim, L.; Woldike, H. F.; Nielsen, P. F.; Christensen, M.; Lynch-Devaney, K.; Podolsky, D. K.: Characterization of human and rat intestinal trefoil factor produced in yeast. Biochemistry 34: 4757-4764, 1995.
[0023435]14023.Itoh, T.; Mori, T.; Ohkubo, H.; Yamaizumi, M.: A newly identified patient with clinical xeroderma pigmentosum phenotype has a non-sense mutation in the DDB2 gene and incomplete repair in (6-4) photoproducts. J. Invest. Derm. 113: 251-257, 1999.
[0023436]14024.Fernandes-Alnemri, T.; Armstrong, R. C.; Krebs, J.; Srinivasula, S. M.; Wang, L.; Bullrich, F.; Fritz, L. C.; Trapani, J. A.; Tomaselli, K. J.; Litwack, G.; Alnemri, E. S.: In vitro activation of CPP32 and Mch3 by Mch4, a novel human apoptotic cysteine protease containing two FADD-like domains. Proc. Nat. Acad. Sci. 93: 7464-7469, 1996.
[0023437]14025.Fernandes-Alnemri, T.; Litwack, G.; Alnemri, E. S.: CPP32, a novel human apoptotic protein with homology to Caenorhabditis elegans cell death protein Ced-3 and mammalian interleukin-1 beta-converting enzyme. J. Biol. Chem. 269: 30761-30764, 1994.
[0023438]14026.Fernando, P.; Kelly, J. F.; Balazsi, K.; Slack, R. S.; Megeney, L. A.: Caspase 3 activity is required for skeletal muscle differentiation. Proc. Nat. Acad. Sci. 99: 11025-11030, 2002.
[0023439]14027.Huang, Y.; Shin, N.-H.; Sun, Y.; Wang, K. K. W.: Molecular cloning and characterization of a novel caspase-3 variant that attenuates apoptosis induced by proteasome inhibition. Biochem. Biophys. Res. Commun. 283: 762-769, 2001.
[0023440]14028.Kuida, K.; Zheng, T. S.; Na, S.; Kuan, C.; Yang, D.; Karasuyama, H.; Rakio, P.; Flavell, R. A.: Decreased apoptosis in the brain and premature lethality in CPP32-deficient mice. Nature 384: 368-372, 1996.
[0023441]14029.Levkau, B.; Koyama, H.; Raines, E. W.; Clurman, B. E.; Herren, B.; Orth, K.; Roberts, J. M.; Ross, R.: Cleavage of p21(Cip1/Waf1) and p27(Kip1) mediates apoptosis in endothelial cells through activation of Cdk2: role of a caspase cascade. Molec. Cell 1: 553-563, 1998.
[0023442]14030.Nasir, J.; Theilmann, J. L.; Chopra, V.; Jones, A. M.; Walker, D.; Rasper, D. M.; Vaillancourt, J. P.; Hewitt, J. E.; Nicholson, D. W.; Hayden, M. R.: Localization of the cell death genes CPP32 and Mch-2 to human chromosome 4q. Mammalian Genome 8: 56-59, 1997.
[0023443]14031.Tiso, N.; Pallavicini, A.; Muraro, T.; Zimbello, R.; Apolloni, E.; Valle, G.; Lanfranchi, G.; Danieli, G. A.: Chromosomal localization of the human genes, CPP32, Mch2, Mch3, and Ich-1, involved in cellular apoptosis. Biochem. Biophys. Res. Commun. 225: 983-989, 1996.
[0023444]14032.Woo, M.; Hakem, R.; Soengas, M. S.; Duncan, G. S.; Shahinian, A.; Kagi, K.; Hakem, A.; McCurrach, M.; Khoo, W.; Kaufman, S. A.; Senaldi, G.; Howard, T.; Lowe, S. W.; Mak, T. W.: Essential contribution of caspase 3/CPP32 to apoptosis and its associated nuclear changes. Genes Dev. 12: 806-819, 1998.
[0023445]14033.Nicholson, D. W.; Ali, A.; Thornberry, N. A.; Vaillancourt, J. P.; Ding, C. K.; Gallant, M.; Gareau, Y.; Griffin, P. R.; Labelle, M.; Lazebnik, Y. A.; Munday, N. A.; Raju, S. M.; Smulson, M. E.; Yamin, T.-T.; Yu, V. L.; Miller, D. K.: Identification and inhibition of the ICE/CED-3 protease necessary for mammalian apoptosis. Nature 376: 37-43, 1995. MEDLINE UID: 95319529
[0023446]14034.Bergeron, L.; Perez, G. I.; Macdonald, G.; Shi, L.; Sun, Y.; Jurisicova, A.; Varmuza, S.; Latham, K. E.; Flaws, J. A.; Salter, J. C. M.; Hara, H.; Moskowitz, M. A.; Li, E.; Greenberg, A.; Tilly, J. L.; Yuan, J. : Defects in regulation of apoptosis in caspase-2-deficient mice. Genes Dev. 12: 1304-1314, 1998.
[0023447]14035.Stone, D. M.; Hynes, M.; Armanini, M.; Swanson, T. A.; Gu, Q.; Johnson, R. L.; Scott, M. P.; Pennica, D.; Goddard, A.; Phillips, H.; Noll, M.; Hooper, J. E.; de Sauvage, F.; Rosenthal, A.: The tumour-suppressor gene patched encodes a candidate receptor for Sonic hedgehog. Nature 384: 129-134, 1996.
[0023448]14036.Zhang, X. M.; Ramalho-Santos, M.; McMahon, A. P.: Smoothened mutants reveal redundant roles for Shh and Ihh signaling including regulation of L/R asymmetry by the mouse node. Cell 105: 781-792, 2001.
[0023449]14037.Geurts, J. M. W.; Schoenmakers, E. F. P. M.; Roijer, E.; Astrom, A.-K.; Stenman, G.; van de Ven, W. J. M.: Identification of NFIB as recurrent translocation partner gene of HMGIC in pleomorphic adenomas. Oncogene 16: 865-872, 1998.
[0023450]14038.Smith, S. A.; Holik, P. R.; Stevens, J.; Melis, R.; White, R.; Albertsen, H.: Isolation and mapping of a gene encoding a novel human ADP-ribosylation factor on chromosome 17q12-q21. Genomics 28: 113-115, 1995.
[0023451]14039.Fiedorek, F. T., Jr.; Kay, E. S.: Mapping of the insulin promoter factor 1 gene (Ipf1) to distal mouse chromosome 5. Genomics 28: 581-584, 1995.
[0023452]14040.Hani, E. H.; Stoffers, D. A.; Chevre, J.-C.; Durand, E.; Stanojevic, V.; Dina, C.; Habener, J. F.; Froguel, P.: Defective mutations in the insulin promoter factor-1 (IPF-1) gene in late-onset type 2 diabetes mellitus. J. Clin. Invest. 104: R41-R48, 1999.
[0023453]14041.Tang, J. Y.; Hwang, B. J.; Ford, J. M.; Hanawalt, P. C.; Chu, G. : Xeroderma pigmentosum p48 gene enhances global genomic repair and suppresses UV-induced mutagenesis. Molec. Cell 5: 737-744, 2000.
[0023454]14042.Bermingham, J. R., Jr.; Arden, K. C.; Naumova, A. K.; Sapienza, C.; Viars, C. S.; Fu, X.-D.; Khotz, J.; Manley, J. L.; Rosenfeld, M. G.: Chromosomal localization of mouse and human genes encoding the splicing factors ASF/SF2 (SFRS1) and SC-35 (SFRS2). Genomics 29: 70-79, 1995.
[0023455]14043.Wang, J.; Takagaki, Y.; Manley, J. L.: Targeted disruption of an essential vertebrate gene: ASF/SF2 is required for cell viability. Genes Dev. 10: 2588-2599, 1996.
[0023456]14044.Costanzo, V.; Robertson, K.; Bibikova, M.; Kim, E.; Grieco, D.; Gottesman, M.; Carroll, D.; Gautier, J.: Mre11 protein complex prevents double-strand break accumulation during chromosomal DNA replication. Molec. Cell 8: 137-147, 2001.
[0023457]14045.Hernandez, D.; McConville, C. M.; Stacey, M.; Woods, C. G.; Brown, M. M.; Shutt, P.; Rysiecki, G.; Taylor, A. M. R.: A family showing no evidence of linkage between the ataxia telangiectasia gene and chromosome 1q22-23. J. Med. Genet. 30: 135-140, 1993.
[0023458]14046.Hopfner, K.-P.; Karcher, A.; Craig, L.; Woo, T. T.; Carney, J. P.; Tainer, J. A.: Structural biochemistry and interaction architecture of the DNA double-strand break repair Mre11 nuclease and Rad50-ATPase. Cell 105: 473-485, 2001.
[0023459]14047.Klein, C.; Wenning, G. K.; Quinn, N. P.; Marsden, C. D.: Ataxia without telangiectasia masquerading as benign hereditary chorea. Mov. Disord. 11: 217-220, 1996.
[0023460]14048.Paull, T. T.; Gellert, M.: The 3-prime to 5-prime exonuclease activity of Mre11 facilitates repair of DNA double-strand breaks. Molec. Cell 1: 969-979, 1998.
[0023461]14049.Petrini, J. H. J.; Walsh, M. E.; DiMare, C.; Chen, X.-N.; Korenberg, J. R.; Weaver, D. T.: Isolation and characterization of the human MRE11 homologue. Genomics 29: 80-86, 1995.
[0023462]14050.Pitts, S. A.; Kullar, H. S.; Stankovic, T.; Stewart, G. S.; Last, J. I. K.; Bedenham, T.; Armstrong, S. J.; Piane, M.; Chessa, L.; Taylor, A. M. R.; Byrd, P. J.: hMRE11: genomic structure and a null mutation identified in a transcript protected from nonsense-mediated mRNA decay. Hum. Molec. Genet. 10: 1155-1162, 2001.
[0023463]14051.Stewart, G. S.; Maser, R. S.; Stankovic, T.; Bressan, D. A.; Kaplan, M. I.; Jaspers, N. G. J.; Raams, A.; Byrd, P. J.; Petrini, J. H. J.; Taylor, A. M. R.: The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder. Cell 99: 577-587, 1999.
[0023464]14052.Stracker, T. H.; Carson, C. T.; Weitzman, M. D.: Adenovirus oncoproteins inactivate the Mre11-Rad50-NBS1 DNA repair complex. Nature 418: 348-352, 2002.
[0023465]14053.Trujillo, K. M.; Yuan, S.-S. F.; Lee, E. Y.-H. P.; Sung, P.: Nuclease activities in a complex of human recombination and DNA repair factors Rad50, Mre11, and p95. J. Biol. Chem. 273: 21447-21450, 1998.
[0023466]14054.Zhong, Q.; Chen, C.-F.; Li, S.; Chen, Y.; Wang, C.-C.; Xiao, J.; Chen, P.-L.; Sharp, Z. D.; Lee, W.-H.: Association of BRCA1 with the hRad50-hMre11-p95 complex and the DNA damage response. Science 285: 747-750, 1999.
[0023467]14055.Zhu, X.-D.; Kuster, B.; Mann, M.; Petrini, J. H. J.; de Lange, T.: Cell-cycle-regulated association of RAD50/MRE11/NBS1 with TRF2 and human telomeres. Nature Genet. 25: 347-352, 2000.
[0023468]14056.Virbasius, C. A.; Virbasius, J. V.; Scarpulla, R. C.: NRF-1, an activator involved in nuclear-mitochondrial interactions, utilizes a new DNA-binding domain conserved in a family of developmental regulators. Genes Dev. 7: 2431-2445, 1993.
[0023469]14057.Burch, G. H.; Gong, Y.; Curry, C.; Miller, W. L.; Bristow, J. D. : Human tenascin-X deficiency causes an Ehlers-Danlos-like phenotype. (Abstract) Am. J. Hum. Genet. 59 (suppl.): A16, 1996.
[0023470]14058.Albig, W.; Bramlage, B.; Gruber, K.; Klobeck, H.-G.; Kunz, J.; Doenecke, D.: The human replacement histone H3.3B gene (H3F3B). Genomics 30: 264-272, 1995.
[0023471]14059.Bass, B. L.; Weintraub, H.: An unwinding activity that covalently modifies its doublestranded RNA substrate. Cell 55: 1089-1098, 1988.
[0023472]14060.Kim, U.; Wang, Y.; Sanford, T.; Zeng, Y.; Nishikura, K.: Molecular cloning of cDNA for double-stranded RNA adenosine deaminase, a candidate enzyme for nuclear RNA editing. Proc. Nat. Acad. Sci. 91: 11457-11461, 1994.
[0023473]14061.O'Connell, M. A.; Krause, S.; Higuchi, M.; Hsuan, J. J.; Totty, N. F.; Jenny, A.; Keller, W.: Cloning of cDNAs encoding mammalian double-stranded RNA-specific adenosine deaminase. Molec. Cell. Biol. 15: 1389-1397, 1995.
[0023474]14062.Patterson, J. B.; Samuel, C. E.: Expression and regulation by interferon of a doublestranded-RNA-specific adenosine deaminase from human cells: evidence for two forms of the deaminase. Molec. Cell. Biol. 15: 5376-5388, 1995.
[0023475]14063.Wang, Q.; Khillan, J.; Gadue, P.; Nishikura, K.: Requirement of the RNA editing deaminase ADAR1 gene for embryonic erythropoiesis. Science 290: 1765-1768, 2000.
[0023476]14064.Wang, Y.; Zeng, Y.; Murray, J. M.; Nishikura, K.: Genomic organization and chromosomal location of the human dsRNA adenosine deaminase gene: the enzyme for glutamateactivated ion channel RNA editing. J. Molec. Biol. 254: 184-195, 1995.
[0023477]14065.Weier, H.-U. G.; George, C. X.; Greulich, K. M.; Samuel, C. E. : The interferoninducible, double-stranded RNA-specific adenosine deaminase gene (DSRAD) maps to human chromosome 1q21.1-21.2. Genomics 30: 372-375, 1995.
[0023478]14066.Weier, H.-U. G.; George, C. X.; Lersch, R. A.; Breitweser, S.; Cheng, J.-F.; Samuel, C. E.: Assignment of the RNA-specific adenosine deaminase gene (Adar) to mouse chromosome 3F2 by in situ hybridization. Cytogenet. Cell Genet. 89: 214-215, 2000.
[0023479]14067.Lin, Q.; Schwarz, J.; Bucana, C.; Olson, E. N.: Control of mouse cardiac morphogenesis and myogenesis by transcription factor MEF2C. Science 276: 1404-1407, 1997.
[0023480]14068.Burch, G. H.; Gong, Y.; Liu, W.; Dettman, R. W.; Curry, C. J.; Smith, L.; Miller, W. L.; Bristow, J.: Tenascin-X deficiency is associated with Ehlers-Danlos syndrome. Nature Genet. 17: 104-108, 1997.
[0023481]14069.Erickson, H. P.: A tenascin knockout with a phenotype. Nature Genet. 17: 5-7, 1997.
[0023482]14070.Gitelman, S. E.; Bristow, J.; Miller, W. L.: Mechanism and consequences of the duplication of the human C4/P450c21/gene X locus. Molec. Cell. Biol. 12: 2124-2134, 1992.
[0023483]14071.Ikuta, T.; Sogawa, N.; Ariga, H.; Ikemura, T.; Matsumoto, K.: Structural analysis of mouse tenascin-X: evolutionary aspects of reduplication of FNIII repeats in the tenascin gene family. Gene 217: 1-13, 1998.
[0023484]14072.Mao, J.-R.; Bristow, J.: The Ehlers-Danlos syndrome: on beyond collagens. J. Clin. Invest. 107: 1063-1069, 2001.
[0023485]14073.Mao, J. R.; Taylor, G.; Dean, W. B.; Wagner, D. R.; Afzal, V.; Lotz, J. C.; Rubin, E. M.; Bristow, J.: Tenascin-X deficiency mimics Ehlers-Danlos syndrome in mice through alteration of collagen deposition. Nature Genet. 30: 421-425, 2002.
[0023486]14074.Matsumoto, K.; Arai, M.; Ishihara, N.; Ando, A.; Inoko, H.; Ikemura, T.: Cluster of fibronectin type III repeats found in the human major histocompatibility complex class III region shows the highest homology with the repeats in an extracellular matrix protein, tenascin. Genomics 12: 485-491, 1992.
[0023487]14075.Matsumoto, K.; Saga, Y.; Ikemura, T.; Sakakura, T.; Chiquet-Ehrismann, R.: The distribution of tenascin-X is distinct and often reciprocal to that of tenascin-C. J. Cell Biol. 125: 483-493, 1994.
[0023488]14076.Saga, Y.; Yagi, T.; Ikawa, Y.; Sakakura, T.; Aizawa, S.: Mice develop normally without tenascin. Genes Dev. 6: 1821-1831, 1992.
[0023489]14077.Schalkwijk, J.; Zweers, M. C.; Steijlen, P. M.; Dean, W. B.; Taylor, G.; van Vlijmen, I. M.; van Haren, B.; Miller, W. L.; Bristow, J. : A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency. New Eng. J. Med. 345: 1167-1175, 2001.
[0023490]14078.Speek, M.; Barry, F.; Miller, W. L.: Alternate promoters and alternate splicing of human tenascin-X, a gene with 5-prime and 3-prime ends buried in other genes. Hum. Molec. Genet. 5: 1749-1758, 1996.
[0023491]14079.Tee, M. K.; Thomson, A. A.; Bristow, J.; Miller, W. L.: Sequences promoting the transcription of the human XA gene overlapping P450c21A correctly predict the presence of a novel, adrenal-specific, truncated form of tenascin-X. Genomics 28: 171-178, 1995.
[0023492]14080.Xu, X.; Doolittle, R. F.: Presence of vertebrate fibrinogen-like sequence in an echinoderm. Proc. Nat. Acad. Sci. 87: 2097-2101, 1990.
[0023493]14081.Akama, T. O.; Nakagawa, H.; Sugihara, K.; Narisawa, S.; Ohyama, C.; Nishimura, S.-I.; O'Brien, D. A.; Moremen, K. W.; Millan, J. L.; Fukuda, M. N.: Germ cell survival through carbohydrate-mediated interaction with Sertoli cells. Science 295: 124-127, 2002.
[0023494]14082.Bai, R.-Y.; Koester, C.; Ouyang, T.; Hahn, S. A.; Hammerschmidt, M.; Peschel, C.; Duyster, J.: SMIF, a Smad4-interacting protein that functions as a co-activator in TGF-beta signalling. Nature Cell Biol. 4: 181-190, 2002.
[0023495]14083.Akiyama, Y.; Tsubouchi, N.; Yuasa, Y.: Frequent somatic mutations of hMSH3 with reference to microsatellite instability in hereditary nonpolyposis colorectal cancer. Biochem. Biophys. Res. Commun. 236: 248-252, 1997.
[0023496]14084.Chittenden, T.; Harrington, E. A.; O'Connor, R.; Flemington, C.; Lutz, R. J.; Evan, G. I.; Guild, B. C.: Induction of apoptosis by the Bcl-2 homologue Bak. Nature 374: 733-736, 1995.
[0023497]14085.Herberg, J. A.; Phillips, S.; Beck, S.; Jones, T.; Sheer, D.; Wu, J. J.; Prochazka, V.; Barr, P. J.; Kiefer, M. C.; Trowsdale, J.: Genomic structure and domain organisation of the human Bak gene. Gene 211: 87-94, 1998.
[0023498]14086.Kiefer, M. C.; Brauer, M. J.; Powers, V. C.; Wu, J. J.; Umansky, S. R.; Tomei, L. D.; Barr, P. J.: Modulation of apoptosis by the widely distributed Bcl-2 homologue Bak. Nature 374: 736-739, 1995.
[0023499]14087.Ulrich, E.; Kauffmann-Zeh, A.; Hueber, A.-O.; Williamson, J.; Chittenden, T.; Ma, A.; Evan, G.: Gene structure, cDNA sequence, and expression of murine Bak, a proapoptotic Bcl-2 family member. Genomics 44: 195-200, 1997.
[0023500]14088.Saito, H.; Fujiwara, T.; Takahashi, E.; Shin, S.; Okui, K.; Nakamura, Y.: Isolation and mapping of a novel human gene encoding a protein containing zinc-finger structures. Genomics 31: 376-379, 1996.
[0023501]14089.Higuchi, M.; Maas, S.; Single, F. N.; Hartner, J.; Rozov, A.; Burnashev, N.; Feldmeyer, D.; Sprengel, R.; Seeburg, P. H.: Point mutation in an AMPA receptor gene rescues lethality in mice deficient in the RNA-editing enzyme ADAR2. Nature 406: 78-81, 2000.
[0023502]14090.Lai, F.; Chen, C.-X.; Carter, K. C.; Nishikura, K.: Editing of glutamate receptor B subunit ion channel RNAs by four alternatively spliced DRADA2 double-stranded RNA adenosine deaminases. Molec. Cell. Biol. 17: 2413-2424, 1997.
[0023503]14091.Melcher, T.; Maas, S.; Herb, A.; Sprengel, R.; Seeburg, P. H.; Higuchi, M.: A mammalian RNA editing enzyme. Nature 379: 460-463, 1996.
[0023504]14092.Mittaz, L.; Scott, H. S.; Rossier, C.; Seeburg, P. H.; Higuchi, M.; Antonarakis, S. E.: Cloning of a human RNA editing deaminase (ADARB1) of glutamate receptors that maps to chromosome 21q22.3. Genomics 41: 210-217, 1997.
[0023505]14093.O'Connell, M. A.; Gerber, A.; Keller, W.: Purification of human double-stranded RNAspecific editase 1 (hRED1) involved in editing of brain glutamate receptor B pre-mRNA. J. Biol. Chem. 272: 473-478, 1997.
[0023506]14094.Villard, L.; Tassone, F.; Haymowicz, M.; Welborn, R.; Gardiner, K.: Map location, genomic organization and expression patterns of the human RED1 RNA editase. Somat. Cell Molec. Genet. 23: 135-145, 1997.
[0023507]14095.Yang, J.-H.; Sklar, P.; Axel, R.; Maniatis, T.: Purification and characterization of a human RNA adenosine deaminase for glutamate receptor B pre-mRNA editing. Proc. Nat. Acad. Sci. 94: 4354-4359, 1997.
[0023508]14096.Zhao, Z.; Lee, C.-C.; Monckton, D. G.; Yazdani, A.; Coolbaugh, M. I.; Li, X.; Bailey, J.; Shen, Y.; Caskey, C. T.: Characterization and genomic mapping of genes and pseudogenes of a new human protein tyrosine phosphatase. Genomics 35: 172-181, 1996.
[0023509]14097.Chopra, V. S.; Metzler, M.; Rasper, D. M.; Engqvist-Goldstein, A. E. Y.; Singaraja, R.; Gan, L.; Fichter, K. M.; McCutcheon, K.; Drubin, D.; Nicholson, D. W.; Hayden, M. R.: HIP12 is a nonproapoptotic member of a gene family including HIP1, an interacting protein with huntingtin. Mammalian Genome 11: 1006-1015, 2000.
[0023510]14098.Bogdanova, N.; Markoff, A.; Gerke, V.; McCluskey, M.; Horst, J.; Dworniczak, B.: Homologues to the first gene for autosomal dominant polycystic kidney disease are pseudogenes. Genomics 74: 333-341, 2001.
[0023511]14099.Boletta, A.; Qian, F.; Onuchic, L. F.; Bhunia, A. K.; Phakdeekitcharoen, B.; Hanaoka, K.; Guggino, W.; Monaco, L.; Germino, G. G.: Polycystin-1, the gene product of PKD1, induces resistance to apoptosis and spontaneous tubulogenesis in MDCK cells. Molec. Cell 6: 1267-1273, 2000.
[0023512]14100.Bouba, I.; Koptides, M.; Mean, R.; Costi, C.-E.; Demetriou, K.; Georgiou, I.; Pierides, A.; Siamopoulos, K.; Deltas, C. C.: Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families. Europ. J. Hum. Genet. 9: 677-684, 2001.
[0023513]14101.Boulter, C.; Mulroy, S.; Webb, S.; Fleming, S.; Brindle, K.; Sandford, R.: Cardiovascular, skeletal, and renal defects in mice with a targeted disruption of the Pkd1 gene. Proc. Nat. Acad. Sci. 98: 12174-12179, 2001.
[0023514]14102.Constantinides, R.; Xenophontos, S.; Neophytou, P.; Nomura, S.; Pierides, A.; Constantinou Deltas, C.: New amino acid polymorphism, Ala/Val4058, in exon 45 of the polycystic kidney disease 1 gene: evolution of alleles. Hum. Genet. 99: 644-647, 1997.
[0023515]14103.Delgado-Rodriguez, A.; Ortiz-Marttelo, R.; Villalobos-Pietrini, R.; Gomez-Arroyo, S.; Graf, U.: Genotoxicity of organic extracts of airborne particles in somatic cells of Drosophila melanogaster. Chemosphere 39: 33-43, 1999.
[0023516]14104.Germino, G. G.: Personal Communication. Baltimore, Md. 7/30/1998.
[0023517]14105.Huan, Y.; van Adelsberg, J.: Polycystin-1, the PKD1 gene product, is in a complex containing E-cadherin and the catenins. J. Clin. Invest. 104: 1459-1468, 1999.
[0023518]14106.Ibraghimov-Beskrovnaya, O.; Bukanov, N. O.; Donohue, L. C.; Dackowski, W. R.; Klinger, K. W.; Landes, G. M.: Strong homophilic interactions of the Ig-like domains of polycystin-1, the protein product of an autosomal dominant polycystic kidney disease gene, PKD1. Hum. Molec. Genet. 9: 1641-1649, 2000.
[0023519]14107.Ma, T.; Yang, B.; Kuo, W.-L.; Verkman, A. S.: cDNA cloning and gene structure of a novel water channel expressed exclusively in human kidney: evidence for a gene cluster of aquaporins at chromosome locus 12q13. Genomics 35: 543-550, 1996.
[0023520]14108.Bolino, A.; Muglia, M.; Conforti, F. L.; LeGuern, E.; Salih, M. A. M.; Georgiou, D.-M.; Christodoulou, K.; Hausmanowa-Petrusewicz, I.; Mandich, P.; Schenone, A.; Gambardella, A.; Bono, F.; Quattrone, A.; Devoto, M.; Monaco, A. P.: Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. Nature Genet. 25: 17-19, 2000.
[0023521]14109.Yasui, M.; Kwon, T.-H.; Knepper, M. A.; Nielsen, S.; Agre, P.: Aquaporin-6: an intracellular vesicle water channel protein in renal epithelia. Proc. Nat. Acad. Sci. 96: 5808-5813, 1999.
[0023522]14110.Shan, X.; Bourdeau, A.; Rhoton, A.; Wells, D. E.; Cohen, E. H.; Landgraf, B. E.; Palfree, R. G. E.: Characterization and mapping to human chromosome 8q24.3 of Ly-6-related gene 9804 encoding an apparent homologue of mouse TSA-1. J. Immun. 160: 197-208, 1998.
[0023523]14111.Diamond, R. H.; Cressman, D. E.; Laz, T. M.; Abrams, C. S.; Taub, R.: PRL-1, a unique nuclear protein tyrosine phosphatase, affects cell growth. Cell. Biol. 14: 3752-3762, 1994.
[0023524]14112.Peng, Y.; Genin, A.; Spinner, N. B.; Diamond, R. H.; Taub, R.: The gene encoding human nuclear protein tyrosine phosphatase, PRL-1: cloning, chromosomal localization, and identification of an intron enhancer. J. Biol. Chem. 273: 17286-17295, 1998.
[0023525]14113.Hatakeyama, S.; Osawa, M.; Omine, M.; Ishikawa, F.: JTB: a novel membrane protein gene at 1q21 rearranged in a jumping translocation. Oncogene 18: 2085-2090, 1999.
[0023526]14114.Jadayel, D. M.; Osborne, L. R.; Coignet, L. J. A.; Zani, V. J.; Tsui, L.-C.; Scherer, S. W.; Dyer, M. J. S.: The BCL7 gene family: deletion of BCL7B in Williams syndrome. Gene 224: 35-44, 1998.
[0023527]14115.Zani, V. J.; Asou, N.; Jadayel, D.; Heward, J. M.; Shipley, J.; Nacheva, E.; Takasuki, K.; Catovsky, D.; Dyer, M. J. S.: Molecular cloning of complex chromosomal translocation t(8;14;12)(q24.1;q32.3;q24.1) in a Burkitt lymphoma cell line defines a new gene (BCL7A) with homology to caldesmon. Blood 87: 3124-3134, 1996.
[0023528]14116.Joung, I.; Strominger, J. L.; Shin, J.: Molecular cloning of a phosphotyrosineindependent ligand of the p56-lck SH2 domain. Proc. Nat. Acad. Sci. 93: 5991-5995, 1996.
[0023529]14117.Laurin, N.; Brown, J. P.; Morissette, J.; Raymond, V.: Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone. Am. J. Hum. Genet. 70: 1582-1588, 2002.
[0023530]14118.Park, I.; Chung, J.; Walsh, C. T.; Yun, Y.; Strominger, J. L.; Shin, J.: Phosphotyrosineindependent binding of a 62-kDa protein to the src homology 2 (SH2) domain of p56-lck and its regulation by phosphorylation of ser-59 in the lck unique N-terminal region. Proc. Nat. Acad. Sci. 92: 12338-12342, 1995.
[0023531]14119.Vadlamudi, R. K.; Joung, I.; Strominger, J. L.; Shin, J.: p62, a phosphotyrosineindependent ligand of the SH2 domain of p56-lck, belongs to a new class of ubiquitin-binding proteins. J. Biol. Chem. 271: 20235-20237, 1996.
[0023532]14120.Akbar, G. K. M.; Dasari, V. R.; Webb, T. E.; Ayyanathan, K.; Pillarisetti, K.; Sandhu, A. K.; Athwal, R. S.; Daniel, J. L.; Ashby, B.; Barnard, E. A.; Kunapuli, S. P.: Molecular cloning of a novel P2 purinoceptor from human erythroleukemia cells. J. Biol. Chem. 271: 18363-18367, 1996.
[0023533]14121.Chen, X.-S.; Sheller, J. R.; Johnson, E. N.; Funk, C. D.: Role of leukotrienes revealed by targeted disruption of 5-lipoxygenase gene. Nature 372: 179-182, 1994.
[0023534]14122.Devchand, P. R.; Keller, H.; Peters, J. M.; Vazquez, M.; Gonzalez, F. J.; Wahli, W.: The PPAR alpha-leukotriene B4 pathway to inflammation control. Nature 384: 39-43, 1996.
[0023535]14123.Kato, K.; Yokomizo, T.; Izumi, T.; Shimizu, T.: Cell-specific transcriptional regulation of human leukotriene B4 receptor gene. J. Exp. Med. 192: 413-420, 2000.
[0023536]14124.Owman, C.; Nilsson, C.; Lolait, S. J.: Cloning of cDNA encoding a putative chemoattractant receptor. Genomics 37: 187-194, 1996.
[0023537]14125.Samuelsson, B.; Dahlen, S. E.; Lindgren, J. A.; Rouzer, C. A.; Serhan, C. N.: Leukotrienes and lipoxins: structures, biosynthesis, and biological effects. Science 237: 1171-1176, 1987.
[0023538]14126.Yokomizo, T.; Izumi, T.; Chang, K.; Takuwa, Y.; Shimizu, T.: A G-protein-coupled receptor for leukotriene B4 that mediates chemotaxis. Nature 387: 620-624, 1997.
[0023539]14127.Fernandes-Alnemri, T.; Litwack, G.; Alnemri, E. S.: Mch2, a new member of the apoptotic Ced-3/Ice cysteine protease gene family. Cancer Res. 55: 2737-2742, 1995.
[0023540]14128.Orth, K.; Chinnaiyan, A. M.; Garg, M.; Froelich, C. J.; Dixit, V. M.: The CED-3/ICElike protease Mch2 is activated during apoptosis and cleaves the death substrate lamin A. J. Biol. Chem. 271: 16443-16446, 1996.
[0023541]14129.Verhaegh, G. W. C. T.; Jongmans, W.; Jaspers, N. G. J.; Natarajan, A. T.; Oshimura, M.; Lohman, P. H. M.; Zdzienicka, M. Z.: A gene that regulates DNA replication in response to DNA damage is located on human chromosome 4q. Am. J. Hum. Genet. 57: 1095-1103, 1995.
[0023542]14130.Kubo, Y.; Reuveny, E.; Slesinger, P. A.; Jan, Y. N.; Jan, L. Y. : Primary structure and functional expression of a rat G-protein-coupled muscarinic potassium channel. Nature 364: 802-806, 1993.
[0023543]14131.Schoots, O.; Voskoglou, T.; Van Tol, H. H. M.: Genomic organization and promoter analysis of the human G-protein-coupled K+ channel Kir3.1 (KCNJ3/HGIRK1). Genomics 39: 279-288, 1997.
[0023544]14132.Schoots, O.; Yue, K.-T.; MacDonald, J. F.; Hampson, D. R.; Nobrega, J. N.; Dixon, L. M.; Van Tol, H. H. M.: Cloning of a G protein-activated inwardly rectifying potassium channel from human cerebellum. Molec. Brain Res. 39: 23-30, 1996.
[0023545]14133.Stoffel, M.; Espinosa, R., III; Powell, K. L.; Philipson, L. H.; Le Beau, M. M.; Bell, G. I.: Human G-protein-coupled inwardly rectifying potassium channel (GIRK1) gene (KCNJ3): localization to chromosome 2 and identification of a simple tandem repeat polymorphism. Genomics 21: 254-256, 1994.
[0023546]14134.Cools, J.; Bilhou-Nabera, C.; Wlodarska, I.; Cabrol, C.; Talmant, P.; Bernard, P.; Hagemeijer, A.; Marynen, P.: Fusion of a novel gene, BTL, to ETV6 in acute myeloid leukemias with a t(4;12)(q11-q12;p13). Blood 94: 1820-1824, 1999.
[0023547]14135.Phillips, H. A.; Scheffer, I. E.; Berkovic, S. F.; Hollway, G. E.; Sutherland, G. R.; Mulley, J. C.: Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q13.2. Nature Genet. 10: 117-118, 1995.
[0023548]14136.Phillips, H. A.; Scheffer, I. E.; Crossland, K. M.; Bhatia, K. P.; Fish, D. R.; Marsden, C. D.; Howell, S. J. L.; Stephenson, J. B. P.; Tolmie, J.; Plazzi, G.; Eeg-Olofsson, O.; Singh, R.; Lopes-Cendes, I.; Andermann, E.; Andermann, F.; Berkovic, S. F.; Mulley, J. C.: Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24. Am. J. Hum. Genet. 63: 1108-1116, 1998.
[0023549]14137.D'Arcangelo, G.: Personal Communication. Nutley, N. J. 6/2/1995.
[0023550]14138.D'Arcangelo, G.; Homayouni, R.; Keshvara, L.; Rice, D. S.; Sheldon, M.; Curran, T.: Reelin is a ligand for lipoprotein receptors. Neuron 24: 471-479, 1999.
[0023551]14139.D'Arcangelo, G.; Miao, G. G.; Chen, S.-C.; Soares, H. D.; Morgan, J. I.; Curran, T.: A protein related to extracellular matrix proteins deleted in the mouse mutant reeler. Nature 374: 719-723, 1995.
[0023552]14140.DeSilva, U.; D'Arcangelo, G.; Braden, V. V.; Chen, J.; Miao, G. G.; Curran, T.; Green, E. D.: The human reelin gene: isolation, sequencing, and mapping on chromosome 7. Genome Res. 7: 157-164, 1997.
[0023553]14141.Green, M. C.: Catalog of mutant genes and polymorphic loci.In: Lyon, M. F.; Searle, A. G.: Genetic Variants and Strains of the Laboratory Mouse. Oxford: Oxford Univ. Press (pub.) (2nd ed.): 1989.
[0023554]14142.Hack, I.; Bancila, M.; Loulier, K.; Carroll, P.; Cremer, H.: Reelin is a detachment signal in tangential chain-migration during postnatal neurogenesis. Nature Neurosci. 5: 939-945, 2002.
[0023555]14143.Hirotsune, S.; Takahara, T.; Sasaki, N.; Hirose, K.; Yoshiki, A.; Ohashi, T.; Kusakabe, M.; Murakami, Y.; Muramatsu, M.; Watanabe, S.; Nakao, K.; Katsuki, M.; Hayashizaki, Y.: The reeler gene encodes a protein with an EGF-like motif expressed by pioneer neurons. Nature Genet. 10: 77-83, 1995.
[0023556]14144.Hong, S. E.; Shugart, Y. Y.; Huang, D. T.; Al Shahwan, S.; Grant, P. E.; Hourihane, J. O.; Martin, N. D. T.; Walsh, C. A.: Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. Nature Genet. 26: 93-96, 2000. Note: Erratum: Nature Genet. 27: 225 only, 2001.
[0023557]14145.Hourihane, J. O.; Bennett, C. P.; Chaudhuri, R.; Robb, S. A.; Martin, N. D. T.: A sibship with a neuronal migration defect, cerebellar hypoplasia and congenital lymphedema. Neuropediatrics 24: 43-46, 1993.
[0023558]14146.Impagnatiello, F.; Guidotti, A. R.; Pesold, C.; Dwivedi, Y.; Caruncho, H.; Pisu, M. G.; Uzunov, D. P.; Smalheiser, N. R.; Davis, J. M.; Pandey, G. N.; Pappas, G. D.; Tueting, P.; Sharma, R. P.; Costa, E.: A decrease of reelin expression as a putative vulnerability factor in schizophrenia. Proc. Nat. Acad. Sci. 95: 15718-15723, 1998.
[0023559]14147.Magdaleno, S.; Keshvara, L.; Curran, T.: Rescue of ataxia and preplate splitting by ectopic expression of reelin in reeler mice. Neuron 33: 573-586, 2002.
[0023560]14148.Royaux, I.; Lambert de Rouvroit, C.; D'Arcangelo, G.; Demirov, D.; Goffinet, A. M.: Genomic organization of the mouse reelin gene. Genomics 46: 240-250, 1997.
[0023561]14149.Yip, J. W.; Yip, Y. P. L.; Nakajima, K.; Capriotti, C.: Reelin controls position of autonomic neurons in the spinal cord. Proc. Nat. Acad. Sci. 97: 8612-8616, 2000.
[0023562]14150.Bansal-Pakala, P.; Jember, A. G.-H.; Croft, M.: Signaling through OX40 (CD134) breaks peripheral T-cell tolerance. Nature Med. 7: 907-912, 2001.
[0023563]14151.Birkeland, M. L.; Copeland, N. G.; Gilbert, D. J.; Jenkins, N. A.; Barclay, A. N.: Gene structure and chromosomal localization of the mouse homologue of rat OX40 protein. Europ. J. Immun. 25: 926-930, 1995.
[0023564]14152.Jember, A. G.-H.; Zuberi, R.; Liu, F.-T.; Croft, M.: Development of allergic inflammation in a murine model of asthma is dependent on the costimulatory receptor OX40. J. Exp. Med. 193: 387-392, 2001.
[0023565]14153.Latza, U.; Durkop, H.; Schnittger, S.; Ringeling, J.; Eitelbach, F.; Hummel, M.; Fonatsch, C.; Stein, H.: The human OX40 homolog: cDNA structure, expression and chromosomal assignment of the ACT35 antigen. Europ. J. Immun. 24: 677-683, 1994.
[0023566]14154.Anderson, D. W.; Probst, F. J.; Belyantseva, I. A.; Fridell, R. A.; Beyer, L.; Martin, D. M.; Wu, D.; Kachar, B.; Friedman, T. B.; Raphael, Y.; Camper, S. A.: The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells. Hum. Molec. Genet. 9: 1729-1738, 2000.
[0023567]14155.Probst, F. J.; Fridell, R. A.; Raphael, Y.; Saunders, T. L.; Wang, A.; Liang, Y.; Morell, R. J.; Touchman, J. W.; Lyons, R. H.; Noben-Trauth, K.; Friedman, T. B.; Camper, S. A.: Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene. Science 280: 1444-1447, 1998.
[0023568]14156.Wang, A.; Liang, Y.; Fridell, R. A.; Probst, F. J.; Wilcox, E. R.; Touchman, J. W.; Morton, C. C.; Morell, R. J.; Noben-Trauth, K.; Camper, S. A.; Friedman, T. B.: Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3. Science 280: 1447-1451, 1998.
[0023569]14157.Wilton, S. D.; Lim, L.; Dorosz, S. D.; Gunn, H. C.; Eyre, H. J.; Callen, D. F.; Laing, N. G.: Assignment of the human alpha-tropomyosin gene TPM4 to band 19p13.1 by fluorescence in situ hybridization. Cytogenet. Cell Genet. 72: 294-296, 1996.
[0023570]14158.Thomas, G. H.; Goldberg, M. M.; Miller, C. S.; Reynolds, L. W. : Neuraminidase deficiency in the original patient with the Goldberg syndrome. Clin. Genet. 16: 323-330, 1979.
[0023571]14159.Ronce, N.; Moizard, M.-P.; Robb, L.; Toutain, A.; Villard, L.; Moraine, C.: A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family. (Letter) Am. J. Hum. Genet. 61: 233-238, 1997.
[0023572]14160.Tsukahara, M.; Imaizumi, K.; Kawai, S.; Kajii, T.: Occipital horn syndrome: report of a patient and review of the literature. Clin. Genet. 45: 32-35, 1994.
[0023573]14161.Tumer, Z.; Lund, C.; Tolshave, J.; Vural, B.; Tonnesen, T.; Horn, N.: Identification of point mutations in 41 unrelated patients affected with Menkes disease. Am. J. Hum. Genet. 60: 63-71, 1997.
[0023574]14162.Tumer, Z.; Vural, B.; Tonnesen, T.; Chelly, J.; Monaco, A. P.; Horn, N.: Characterization of the exon structure of the Menkes disease gene using vectorette PCR. Genomics 26: 437-442, 1995.
[0023575]14163.Vulpe, C.; Levinson, B.; Whitney, S.; Packman, S.; Gitschier, J.: Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nature Genet. 3: 7-13, 1993.
[0023576]14164.Lazzaro, M. A.; Picketts, D. J.: Cloning and characterization of the murine Imitation Switch (ISWI) genes: differential expression patterns suggest distinct developmental roles for Snf2h and Snf2l. J. Neurochem. 77: 1145-1156, 2001.
[0023577]14165.De Plaen, E.; Arden, K.; Traversari, C.; Gaforio, J. J.; Szikora, J.-P.; De Smet, C.; Brasseur, F.; van der Bruggen, P.; Lethe, B.; Lurquin, C.; Brasseur, R.; Chomez, P.; De Backer, O.; Cavenee, W.; Boon, T.: Structure, chromosomal localization, and expression of 12 genes of the MAGE family. Immunogenetics 40: 360-369, 1994.
[0023578]14166.Rogner, U. C.; Wilke, K.; Steck, E.; Korn, B.; Poustka, A.: The melanoma antigen gene (MAGE) family is clustered in the chromosomal band Xq28. Genomics 29: 725-731, 1995.
[0023579]14167.Chakarova, C.; Wehnert, M. S.; Uhl, K.; Sakthivel, S.; Vosberg, H.-P.; van der Ven, P. F. M.; Furst, D. O.: Genomic structure and fine mapping of the two human filamin gene paralogues FLNB and FLNC and comparative analysis of the filamin gene family. Hum. Genet. 107: 597-611, 2000.
[0023580]14168.Fink, J. M.; Dobyns, W. B.; Guerrini, R.; Hirsch, B. A.: Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia. Am. J. Hum. Genet. 61: 379-387, 1997.
[0023581]14169.Fox, J. W.; Lamperti, E. D.; Eksioglu, Y. Z.; Hong, S. E.; Feng, Y.; Graham, D. A.; Scheffer, I. E.; Dobyns, W. B.; Hirsch, B. A.; Radtke, R. A.; Berkovic, S. F.; Huttenlocher, P. R.; Walsh, C. A. : Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron 21: 1315-1325, 1998.
[0023582]14170.Gariboldi, M.; Maestrini, E.; Canzian, F.; Manenti, G.; De Gregorio, L.; Rivella, S.; Chatterjee, A.; Herman, G. E.; Archidiacono, N.; Antonacci, R.; Pierotti, M. A.; Dragani, T. A.; Toniolo, D.: Comparative mapping of the actin-binding protein 280 genes in human and mouse. Genomics 21: 428-430, 1994.
[0023583]14171.Bashir, R.; Britton, S.; Strachan, T.; Keers, S.; Vafiadaki, E.; Lako, M.; Richard, I.; Marchand, S.; Bourg, N.; Argov, Z.; Sadeh, M.; Mahjneh, I.; Marconi, G.; Passos-Bueno, M. R.; Moreira, E. S.; Zatz, M.; Beckmann, J. S.; Bushby, K.: A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nature Genet. 20: 37-42, 1998.
[0023584]14172.Liu, J.; Aoki, M.; Illa, I.; Wu, C.; Fardeau, M.; Angelini, C.; Serrano, C.; Urtizberea, J. A.; Hentati, F.; Ben Hamida, M.; Bohlega, S.; Culper, E. J.; Amato, A. A.; Bossie, K.; Oeltjen, J.; Bejaoui, K.; McKenna-Yasek, D.; Hosler, B. A.; Schurr, E.; Arahata, K.; de Jong, P. J.; Brown, R. H., Jr.: Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nature Genet. 20: 31-36, 1998.
[0023585]14173.Thomas, G. H.; Tipton, R. E.; Ch'ien, L. T.; Reynolds, L. W.; Miller, C. S.: Sialidase (alpha-N-acetyl neuraminidase) deficiency: the enzyme defect in an adult with macular cherry red spots and myoclonus without dementia. Clin. Genet. 13: 369-379, 1978.
[0023586]14174.Thomas, P. K.; Abrams, J. D.; Swallow, D.; Stewart, G.: Sialidosis type I: cherry-red spot myoclonus syndrome with sialidase deficiency and altered electrophoretic mobilities of some enzymes known to be glycoproteins. J. Neurol. Neurosurg. Psychiat. 42: 873-880, 1979.
[0023587]14175.Tipton, R. E.; Thomas, G. H.; Ch'ien, L. T.; Reynolds, L. W.; Miller, C. S.: Sialidase (alpha-N-acetyl neuraminidase) deficiency, macular cherry-red spots and myoclonus. (Abstract) Clin. Res. 26: 76A only, 1978.
[0023588]14176.Tondeur, M.; Libert, J.; Vamos, E.; Van Hoof, F.; Thomas, G. H.; Strecker, G.: Infantile sialic acid storage disorder: clinical, ultrastructural and biochemical studies in two siblings. Europ. J. Pediat. 139: 142-147, 1982.
[0023589]14177.Verheijen, F. W.; Palmieri, S.; Galjaard, H.: Purification and partial characterization of lysosomal neuraminidase from human placenta. Europ. J. Biochem. 162: 63-67, 1987.
[0023590]14178.Verheijen, F. W.; Palmieri, S.; Hoogeveen, A. T.; Galjaard, H. : Human placental neuraminidase: activation, stabilization and association with beta-galactosidase and its 'protective' protein. Europ. J. Biochem. 149: 315-321, 1985.
[0023591]14179.Winter, R. M.; Swallow, D. M.; Baraitser, M.; Purkiss, P.: Sialidosis type 2 (acid neuraminidase deficiency): clinical and biochemical features of a further case. Clin. Genet. 18: 203-210, 1980.
[0023592]14180.Womack, J. E.; David, C. S.: Mouse gene for neuraminidase activity (Neu-1) maps to the D end of H-2. Immunogenetics 16: 177-180, 1982.
[0023593]14181.Womack, J. E.; Eicher, E.: Liver-specific lysosomal acid phosphatase deficiency (Apl) on mouse chromosome 17. Molec. Genet. 155: 315-317, 1977.
[0023594]14182.Womack, J. E.; Yan, D. L. S.; Potier, M.: Gene for neuraminidase activity on mouse chromosome 17 near H-2: pleiotropic effects on multiple hydrolases. Science 212: 63-65, 1981.
[0023595]14183.Womack, J. E.; Yan, D. L. S.; Potier, M.: Liver neuraminidase deficiency inherited as a single gene on mouse chromosome 17. (Abstract) Am. J. Hum. Genet. 32: 59A only, 1980.
[0023596]14184.Yamamoto, A.; Adachi, S.; Kawamura, S.; Takahashi, M.; Kitano, T.; Ohtori, T.; Shinji, Y.; Nishikawa, M.: Localized beta-galactosidase deficiency. Arch. Intern. Med. 134: 627-634, 1974.
[0023597]14185.Young, I. D.; Young, E. P.; Mossman, J.; Fielder, A. R.; Moore, J. R.: Neuraminidase deficiency: case report and review of the phenotype. J. Med. Genet. 24: 283-290, 1987.
[0023598]14186.Rosenbloom, A. L.; Guevara-Aguirre, J.; Rosenfeld, R. G.; Fiedler, P. J.: The little women of Loja-- growth hormone-receptor deficiency in an inbred population of southern Ecuador. New Eng. J. Med. 323: 1367-1374, 1990.
[0023599]14187.Woods, K. A.; Fraser, N. C.; Postel-Vinay, M.-C.; Savage, M. O.; Clark, A. J. L.: A homozygous splice site mutation affecting the intracellular domain of the growth hormone (GH) receptor resulting in Laron syndrome with elevated GH-binding protein. J. Clin. Endocr. Metab. 81: 1686-1690, 1996.
[0023600]14188.Aghai, E.; Yaniv, I.; David, M.: Factor XI deficiency in an Arab Moslem family in Israel. Scand. J. Haemat. 32: 327-331, 1984.
[0023601]14189.Asakai, R.; Chung, D. W.; Davie, E. W.; Seligsohn, U.: Factor XI deficiency in Ashkenazi Jews in Israel. New Eng. J. Med. 325: 153-158, 1991.
[0023602]14190.Asakai, R.; Chung, D. W.; Ratnoff, O. D.; Davie, E. W.: Factor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations. Proc. Nat. Acad. Sci. 86: 7667-7671, 1989.
[0023603]14191.Asakai, R.; Davie, E. W.; Chung, D. W.: Organization of the gene for human factor XI. Biochemistry 26: 7221-7228, 1987.
[0023604]14192.Bauduer, F.; Dupreuilh, F.; Ducout, L.; Marti, B.: Factor XI deficiency in the French Basque country. Haemophilia 5: 187-190, 1999.
[0023605]14193.Bertina, R. M.; Veltkamp, J. J.: A genetic variant of factor XI with decreased capacity for Ca ion binding. Brit. J. Haemat. 42: 623-635, 1979.
[0023606]14194.Biggs, R.; MacFarlane, R. G.: Human Blood Coagulation and Its Disorders. Oxford: Blackwell (pub.) (3rd ed.): 1962.
[0023607]14195.Bolton-Maggs, P. H. B.: Factor XI deficiency. Bailliere's Clin. Haemat. 9: 355-368, 1996.
[0023608]14196.Braunstein, K. M.; Noyes, C. M.; Griffith, M. J.; Lundblad, R. L.; Roberts, H. R.: Characterization of the defect in activation of factor IX Chapel Hill by human factor XIa. J. Clin. Invest. 68: 1420-1426, 1981.
[0023609]14197.Buetow, K. H.; Shiang, R.; Yang, P.; Nakamura, Y.; Lathrop, G. M.; White, R.; Wasmuth, J. J.; Wood, S.; Berdahl, L. D.; Leysens, N. J.: A detailed multipoint map of human chromosome 4 provides evidence for linkage heterogeneity and position-specific recombination rates. Am. J. Hum. Genet. 48: 911-925, 1991.
[0023610]14198.Clarkson, K.; Rosenfeld, B.; Fair, J.; Klein, A.; Bell, W.: Factor XI deficiency acquired by liver transplantation. Ann. Intern. Med. 115: 877-879, 1991.
[0023611]14199.Dodds, W. J.; Kull, J. E.: Canine factor XI (plasma thromboplastin antecedent) deficiency. J. Lab. Clin. Med. 78: 746-752, 1971.
[0023612]14200.Dzik, W. H.; Arkin, C. F.; Jenkins, R. L.: Transfer of congenital factor XI deficiency from a donor to a recipient by liver transplantation. (Letter) New Eng. J. Med. 316: 1217-1218, 1987.
[0023613]14201.Fujikawa, K.; Chung, D. W.; Hendrickson, L. E.; Davie, E. W.: Amino acid sequence of human factor XI, a blood coagulation factor with four tandem repeats that are highly homologous with plasma prekallikrein. Biochemistry 25: 2417-2424, 1986.
[0023614]14202.Imanaka, Y.; Lal, K.; Nishimura, T.; Bolton-Maggs, P. H. B.; Tuddenham, E. G. D.; McVey, J. H.: Identification of two novel mutations in non-Jewish factor XI deficiency. Brit. J. Haemat. 90: 916-920, 1995.
[0023615]14203.Kato, A.; Asakai, R.; Davie, E. W.; Aoki, N.: Factor XI gene (F11) is located on the distal end of the long arm of human chromosome 4. Cytogenet. Cell Genet. 52: 77-78, 1989.
[0023616]14204.Litz, C. E.; Swaim, W. R.; Dalmasso, A. P.: Factor XI deficiency: genetic and clinical studies of a single kindred. Am. J. Hemat. 28: 8-12, 1988.
[0023617]14205.Mannhalter, C.; Hellstern, P.; Deutsch, E.: Identification of a defective factor XI crossreacting material in a factor XI-deficient patient. Blood 70: 31-37, 1987.
[0023618]14206.Meijers, J. C. M.; Davie, E. W.; Chung, D. W.: Expression of human blood coagulation factor XI: characterization of the defect in factor XI type III deficiency. Blood 79: 1435-1440, 1992.
[0023619]14207.Mitchell, M.; Cutler, J.; Thompson, S.; Moore, G.; Rees, E. J.; Smith, M.; Savidge, G.; Alhaq, A.: Heterozygous factor XI deficiency associated with three novel mutations. Brit. J. Haemat. 107: 763-765, 1999.
[0023620]14208.Muir, W. A.; Ratnoff, O. D.: The prevalence of plasma thromboplastin antecedent (PTA factor XI) deficiency. Blood 44: 569-570, 1974.
[0023621]14209.Niskanen, E. O.; Saito, H.; Cline, M. J.: Plasma thromboplastin antecedent (factor XI) deficiency in a black family. Arch. Intern. Med. 141: 936-941, 1981.
[0023622]14210.Peretz, U.; Zivelin, A.; Usher, S.; Eichel, R.; Seligsohn, U. : Identification of a new mutation in the factor XI gene of an Ashkenazi-Jew with severe factor XI deficiency. (Abstract) Blood 82 (suppl. 1): 66a only, 1993.
[0023623]14211.Pugh, R. E.; McVey, J. H.; Tuddenham, E. G. D.; Hancock, J. F. : Six point mutations that cause factor XI deficiency. Blood 85: 1509-1516, 1995.
[0023624]14212.Ragni, M. V.; Sinha, D.; Seaman, F.; Lewis, J. H.; Spero, J. A.; Walsh, P. N.: Comparison of bleeding tendency, factor XI coagulant activity, and factor XI antigen in 25 factor XIdeficient kindreds. Blood 65: 719-724, 1985.
[0023625]14213.Rapaport, S. I.; Proctor, R. R.; Patch, M. J.; Yettra, M.: The mode of inheritance of PTA deficiency: evidence for the existence of major PTA deficiency and minor PTA deficiency. Blood 18: 149-165, 1961.
[0023626]14214.Rimon, A.; Schiffman, S.; Feinstein, D. I.; Rapaport, S. I.: Factor-XI activity and factor-XI antigen in homozygous and heterozygous factor-XI deficiency. Blood 48: 165-174, 1976.
[0023627]14215.Foresti, V.; Ferrari, C.: Central hypothyroidism: isolated thyrotropin-releasing hormone deficiency or resistance of pituitary thyrotropes?. (Letter) J. Endocr. Invest. 8: 577 only, 1985.
[0023628]14216.Katakami, H.; Kato, Y.; Inada, M.; Imura, H.: Hypothalamic hypothyroidism due to isolated thyrotropin-releasing hormone (TRH) deficiency. J. Endocr. Invest. 7: 231-233, 1984.
[0023629]14217.Niimi, H.; Inomata, H.; Sasaki, N.; Nakajima, H.: Congenital isolated thyrotrophin releasing hormone deficiency. Arch. Dis. Child. 57: 877-878, 1982.
[0023630]14218.Roller, M. L.; Camper, S. A.: Localization of the thyrotropin-releasing hormone gene, Trh, on mouse chromosome 6. Mammalian Genome 6: 443-444, 1995.
[0023631]14219.Yamada, M.; Radovick, S.; Wondisford, F. E.; Nakayama, Y.; Weintraub, B. D.; Wilber, J. F.: Cloning and structure of human genomic DNA and hypothalamic cDNA encoding human preprothyrotropin-releasing hormone. Molec. Endocr. 4: 551-556, 1990.
[0023632]14220.Yamada, M.; Satoh, T.; Monden, T.; Mori, M.: Assignment of the thyrotropin-releasing hormone gene (TRH) to human chromosome 3q13.3-q21 by in situ hybridization. Cytogenet. Cell Genet. 87: 275 only, 1999.
[0023633]14221.Yamada, M.; Wondisford, F. E.; Radovick, S.; Nakayama, Y.; Weintraub, B. D.; Wilber, J. F.: Assignment of human preprothyrotropin-releasing hormone (TRH) gene to chromosome 3. Somat. Cell Molec. Genet. 17: 97-100, 1991.
[0023634]14222.Abramowicz, M. J.; Duprez, L.; Parma, J.; Vassart, G.; Heinrichs, C.: Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland. J. Clin. Invest. 99: 3018-3024, 1997.
[0023635]14223.Biebermann, H.; Schoneberg, T.; Krude, H.; Schultz, G.; Gudermann, T.; Gruters, A.: Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism. J. Clin. Endocr. Metab. 82: 3471-3480, 1997.
[0023636]14224.Clifton-Bligh, R. J.; Gregory, J. W.; Ludgate, M.; John, R.; Persani, L.; Asteria, C.; Beck-Peccoz, P.; Chatterjee, V. K. K.: Two novel mutations in the thyrotropin (TSH) receptor gene in a child with resistance to TSH. J. Clin. Endocr. Metab. 82: 1094-1100, 1997.
[0023637]14225.de Roux, N.; Misrahi, M.; Brauner, R.; Houang, M.; Carel, J. C.; Granier, M.; le Bouc, Y.; Ghinea, N.; Boumedienne, A.; Toublanc, J. E.; Milgrom, E.: Four families with loss of function mutations of the thyrotropin receptor. J. Clin. Endocr. Metab. 81: 4229-4235, 1996.
[0023638]14226.Sunthornthepvarakul, T.; Gottschalk, M. E.; Hayashi, Y.; Refetoff, S.: Resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene. New Eng. J. Med. 332: 155-160, 1995.
[0023639]14227.Morrison, N. A.; Qi, J. C.; Tokita, A.; Kelly, P. J.; Crofts, L.; Nguyen, T. V.; Sambrook, P. N.; Elsman, J. A.: Prediction of bone density from vitamin D receptor alleles. Nature 367: 284-287, 1994.
[0023640]14228.Szpirer, J.; Szpirer, C.; Riviere, M.; Levan, G.; Marynen, P.; Cassiman, J.-J.; Wiese, R.; DeLuca, H. F.: The Sp1 transcription factor gene (SP1) and the 1,25-dihydroxyvitamin D(3) receptor gene (VDR) are colocalized on human chromosome arm 12q and rat chromosome 7. Genomics 11: 168-173, 1991.
[0023641]14229.Van Maldergem, L.; Bachy, A.; Feldman, D.; Bouillon, R.; Maassen, J.; Dreyer, M.; Rey, R.; Holm, C.; Gillerot, Y.: Syndrome of lipoatrophic diabetes, vitamin D resistant rickets, and persistent Mullerian ducts in a Turkish boy born to consanguineous parents. Am. J. Med. Genet. 64: 506-513, 1996.
[0023642]14230.McDermott, J. C.; Cardoso, M. C.; Yu, Y.-T.; Andres, V.; Leifer, D.; Krainc, D.; Lipton, S. A.; Nadal-Ginard, B.: hMEF2C gene encodes skeletal muscle- and brain-specific transcription factors. Molec. Cell. Biol. 13: 2564-2577, 1993.
[0023643]14231.Anderson, G. J.; Murphy, T. L.; Cowley, L.; Evans, B. A.; Halliday, J. W.; McLaren, G. D.: Mapping the gene for sex-linked anemia: an inherited defect of intestinal iron absorption in the mouse. Genomics 48: 34-39, 1998.
[0023644]14232.Bannerman, R. M.: Genetic defects of iron transport. Fed. Proc. 35: 2281-2285, 1976.
[0023645]14233.Edwards, J. A.; Hoke, J. E.; Mattioli, M.; Reichlin, M.: Ferritin distribution and synthesis in sex-linked anemia. J. Lab. Clin. Med. 90: 68-76, 1977.
[0023646]14234.Falconer, D. S.; Isaacson, J. H.: The genetics of sex-linked anaemia in the mouse. Genet. Res. 3: 248-250, 1962.
[0023647]14235.Grewal, M. S.: A sex-linked anaemia in the mouse. Genet. Res. 3: 238-247, 1962.
[0023648]14236.Lee, G. R.; Nacht, S.; Lukens, J. N.; Cartwright, G. E.: Iron metabolism in copperdeficient swine. J. Clin. Invest. 47: 2058-2069, 1968.
[0023649]14237.Vulpe, C. D.; Kuo, Y.-M.; Murphy, T. L.; Cowley, L.; Askwith, C.; Libina, N.; Gitschier, J.; Anderson, G. J.: Hephaestin, a ceruloplasmin homologue implicated in intestinal iron transport, is defective in the sla mouse. Nature Genet. 21: 195-199, 1999.
[0023650]14238.Karumanchi, S. A.; Jha, V.; Ramchandran, R.; Karihaloo, A.; Tsiokas, L.; Chan, B.; Dhanabal, M.; Hanai, J.; Venkataraman, G.; Shriver, Z.; Keiser, N.; Kalluri, R.; and 9 others: Cell surface glypicans are low-affinity endostatin receptors. Molec. Cell 7: 811-822, 2001.
[0023651]14239.Veugelers, M.; Vermeesch, J.; Watanabe, K.; Yamaguchi, Y.; Marynen, P.; David, G.: GPC4, the gene for human K-glypican, flanks GPC3 on Xq26: deletion of the GPC3-GPC4 gene cluster in one family with Simpson-Golabi-Behmel syndrome. Genomics 53: 1-11, 1998.
[0023652]14240.Alitalo, T.; Francis, F.; Kere, J.; Lehrach, H.; Schlessinger, D.; Willard, H. F.: A 6-Mb YAC contig in Xp22.1-p22.2 spanning the DXS69E, XE59, GLRA2, PIGA, GRPR, CALB3, and PHKA2 genes. Genomics 25: 691-700, 1995.
[0023653]14241.de Conciliis, L.; Marchitiello, A.; Wapenaar, M. C.; Borsani, G.; Giglio, S.; Mariani, M.; Consalez, G. G.; Zuffardi, O.; Franco, B.; Ballabio, A.; Banfi, S.: Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains. Genomics 51: 243-250, 1998.
[0023654]14242.de Martinville, B.; Kunkel, L. M.; Bruns, G.; Morle, F.; Koenig, M.; Mandel, J. L.; Horwich, A.; Latt, S. A.; Gusella, J. F.; Housman, D.; Francke, U.: Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus. Am. J. Hum. Genet. 37: 235-249, 1985.
[0023655]14243.Emes, R. D.; Ponting, C. P.: A new sequence motif linking lissencephaly, Treacher Collins and oral-facial-digital type 1 syndromes, microtubule dynamics and cell migration. Hum. Molec. Genet. 10: 2813-2820, 2001.
[0023656]14244.Ferrante, M. I.; Giorgio, G.; Feather, S. A.; Bulfone, A.; Wright, V.; Ghiani, M.; Selicorni, A.; Gammaro, L.; Scolari, F.; Woolf, A. S.; Sylvie, O.; Le Marec, B.; Malcolm, S.; Winter, R.; Ballabio, A.; Franco, B.: Identification of the gene for oral-facial-digital type I syndrome. Am. J. Hum. Genet. 68: 569-576, 2001.
[0023657]14245.Kunkel, L. M.; Tantravahi, U.; Kurnit, D. M.; Eisenhard, M.; Bruns, G. P.; Latt, S. A.: Identification and isolation of transcribed human X chromosome DNA sequences. Nucleic Acids Res. 11: 7961-7979, 1983.
[0023658]14246.Odent, S.; Le Marec, B.; Toutain, A.; David, A.; Vigneron, J.; Treguier, C.; Jouan, H.; Milon, J.; Fryns, J.-P.; Verloes, A.: Central nervous system malformations and early end-stage renal disease in oro-facial-digital syndrome type I: a review. Am. J. Med. Genet. 75: 389-394, 1998.
[0023659]14247.Scolari, F.; Valzorio, B.; Carli, O.; Vizzardi, V.; Costantino, E.; Grazioli, L.; Bondioni, M. P.; Savoldi, S.; Maiorca, R.: Oral-facial-digital syndrome type I: an unusual cause of hereditary cystic kidney disease. Nephrol. Dial Transplant. 12: 1247-1250, 1997.
[0023660]14248.Copley, L. M.; Zhao, W. D.; Kopacz, K.; Herman, G. E.; Kioschis, P.; Poustka, A.; Taudien, S.; Platzer, M.: Exclusion of mutations in the MTMR1 gene as a frequent cause of X-linked myotubular myopathy. (Letter) Am. J. Med. Genet. 107: 256-258, 2002.
[0023661]14249.Kioschis, P.; Wiemann, S.; Heiss, N. S.; Francis, F.; Gotz, C.; Poustka, A.; Taudien, S.; Platzer, M.; Wiehe, T.; Beckmann, G.; Weber, J.; Nordsiek, G.; Rosenthal, A.: Genomic organization of a 225-kb region in Xq28 containing the gene for X-linked myotubular myopathy (MTM1) and a related gene (MTMR1). Genomics 54: 256-266, 1998.
[0023662]14250.Laporte, J.; Blondeau, F.; Buj-Bello, A.; Tentler, D.; Kretz, C.; Dahl, N.; Mandel, J.-L.: Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human. Hum. Molec. Genet. 7: 1703-1712, 1998.
[0023663]14251.Divry, P.; Vianey-Liaud, C.; Gay, C.; Macabeo, V.; Rapin, F.; Echenne, B.: Nacetylaspartic aciduria: report of three new cases in children with a neurological syndrome associating macrocephaly and leucodystrophy. J. Inherit. Metab. Dis. 11: 307-308, 1988.
[0023664]14252.Gorlin, J. B.; Henske, E.; Warren, S. T.; Kunst, C. B.; D'Urso, M.; Palmieri, G.; Hartwig, J. H.; Bruns, G.; Kwiatkowski, D. J.: Actin-binding protein (ABP-280) filamin gene (FLN) maps telomeric to the color vision locus (R/GCP) and centromeric to G6PD in Xq28. Genomics 17: 496-498, 1993.
[0023665]14253.Rouger, H.; LeGuern, E.; Birouk, N.; Gouider, R.; Tardieu, S.; Plassart, E.; Gugenheim, M.; Vallat, J.-M.; Louboutin, J.-P.; Bouche, P.; Agid, Y.; Brice, A.: Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 CX32 mutations in 35 families. Hum. Mutat. 10: 443-452, 1997.
[0023666]14254.Jager, R. J.; Anvret, M.; Hall, K.; Scherer, G.: A human XY female with a frame shift mutation in the candidate testis-determining gene SRY. Nature 348: 452-454, 1990.
[0023667]14255.Koopman, P.; Gubbay, J.; Vivian, N.; Goodfellow, P.; Lovell-Badge, R.: Male development of chromosomally female mice transgenic for Sry. Nature 351: 117-121, 1991.
[0023668]14256.Koopman, P.; Munsterberg, A.; Capel, B.; Vivian, N.; Lovell-Badge, R.: Expression of a candidate sex-determining gene during mouse testis differentiation. Nature 348: 450-452, 1990.
[0023669]14257.McElreavey, K. D.; Vilain, E.; Boucekkine, C.; Vidaud, M.; Jaubert, F.; Richaud, F.; Fellous, M.: XY sex reversal associated with a nonsense mutation in SRY. Genomics 13: 838-840, 1992.
[0023670]14258.Page, D. C.; Mosher, R.; Simpson, E. M.; Fisher, E. M. C.; Mardon, G.; Pollack, J.; McGillivray, B.; de la Chapelle, A.; Brown, L. G. : The sex-determining region of the human Y chromosome encodes a finger protein. Cell 51: 1091-1104, 1987.
[0023671]14259.Taylor, H.; Barter, R. H.; Jacobson, C. B.: Neoplasms of dysgenetic gonads. Am. J. Obstet. Gynec. 96: 816-823, 1966.
[0023672]14260.Vilain, E.; McElreavey, K.; Jaubert, F.; Raymond, J.-P.; Richaud, F.; Fellous, M.: Familial case with sequence variant in the testis-determining region associated with two sex phenotypes. Am. J. Hum. Genet. 50: 1008-1011, 1992.
[0023673]14261.Elpeleg, O. N.; Anikster, Y.; Barash, V.; Branski, D.; Shaag, A. : The frequency of the C854 mutation in the aspartoacylase gene in Ashkenazi Jews in Israel. Am. J. Hum. Genet. 55: 287-288, 1994.
[0023674]14262.Feigelman, T.; Shih, V. E.; Buyse, M. L.: Prolonged survival in Canavan disease. Dysmorph. Clin. Genet. 5: 107-110, 1991.
[0023675]14263.Hagenfeldt, L.; Bollgren, I.; Venizelos, N.: N-acetylaspartic aciduria due to aspartoacylase deficiency--a new etiology of childhood leukodystrophy. J. Inherit. Metab. Dis. 10: 135-141, 1967.
[0023676]14264.Hogan, G. R.; Richardson, E. P., Jr.: Spongy degeneration of the nervous system (Canavan's disease): report of a case in an Irish-American family. Pediatrics 35: 284-294, 1965.
[0023677]14265.Kaul, R.; Balamurugan, K.; Gao, G. P.; Matalon, R.: Canavan disease: genomic organization and localization of human ASPA to 17p13-ter and conservation of the ASPA gene during evolution. Genomics 21: 364-370, 1994.
[0023678]14266.Kaul, R.; Gao, G. P.; Aloya, M.; Balamurugan, K.; Petrosky, A.; Michals, K.; Matalon, R.: Canavan disease: mutations among Jewish and non-Jewish patients. Am. J. Hum. Genet. 55: 34-41, 1994.
[0023679]14267.Kaul, R.; Gao, G. P.; Balamurugan, K.; Matalon, R.: Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease. Nature Genet. 5: 118-123, 1993.
[0023680]14268.Kaul, R.; Gao, G. P.; Matalon, R.; Aloya, M.; Su, Q.; Jin, M.; Johnson, A. B.; Schutgens, R. B. H.; Clarke, J. T. R.: Identification and expression of eight novel mutations among non-Jewish patients with Canavan disease. Am. J. Hum. Genet. 59: 95-102, 1996.
[0023681]14269.Kaul, R.; Gao, G. P.; Michals, K.; Whelan, D. T.; Levin, S.; Matalon, R.: Novel (cys152-to-arg) missense mutation in an Arab patient with Canavan disease. Hum. Mutat. 5: 269-271, 1995.
[0023682]14270.Kvittingen, E. A.; Guldal, G.; Borsting, S.; Skalpe, I. O.; Stokke, O.; Jellum, E.: Nacetylaspartic aciduria in a child with a progressive cerebral atrophy. Clin. Chim. Acta 158: 217-227, 1986.
[0023683]14271.Mahloudji, M.; Daneshbod, K.; Karjoo, M.: Familial spongy degeneration of the brain. Arch. Neurol. 22: 294-298, 1970.
[0023684]14272.Matalon, R.: Personal Communication. Miami, Fla. 11/3/1990.
[0023685]14273.Matalon, R.; Kaul, R.; Casanova, J.; Michals, K.; Johnson, A.; Rapin, I.; Gashkoff, P.; Deanching, M.: Aspartoacylase deficiency: the enzyme defect in Canavan disease. J. Inherit. Metab. Dis. 12 (suppl. 2): 329-331, 1989.
[0023686]14274.Matalon, R.; Michals, K.; Sebesta, D.; Deanching, M.; Gashkoff, P.; Casanova, J.: Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease. Am. J. Med. Genet. 29: 463-471, 1988.
[0023687]14275.Morcaldi, L.; Salvati, G.; Giordano, G. G.; Guazzi, G. C.: Congenital van Bogaert-Bertrand disease in a non-Jewish family. Acta Genet. Med. Gemellol. 18: 142-157, 1969.
[0023688]14276.Ozand, P. T.; Gascon, G. G.; Dhalla, M.: Aspartoacylase deficiency and Canavan disease in Saudi Arabia. Am. J. Hum. Genet. 35: 266-268, 1990.
[0023689]14277.Propheta, O.; Magal, N.; Shohat, M.; Eyal, N.; Navot, N.; Horowitz, M.: A benign polymorphism in the aspartoacylase gene may cause misinterpretation of Canavan gene testing. Europ. J. Hum. Genet. 6: 635-637, 1998.
[0023690]14278.Rady, P. L.; Vargas, T.; Tyring, S. K.; Matalon, R.; Langenbeck, U.: Novel missense mutation (Y231C) in a Turkish patient with Canavan disease. (Letter) Am. J. Med. Genet. 87: 273-275, 1999.
[0023691]14279.Schmidt, H.; Rott, H.-D.; Neuhauser, G.; Neumann, W.: Spongiose Hirndystrophie im fruhen Kindesalter (Typ Canavan-van Bogaert-Bertrand): Erkrankung von 3 Geschwistern einer nichtjudischen Familie aus Oberfranken. Klin. Paediat. 190: 580-585, 1978.
[0023692]14280.Shaag, A.; Anikster, Y.; Christensen, E.; Glustein, J. Z.; Fois, A.; Michelakakis, H.; Nigro, F.; Pronicka, E.; Ribes, A.; Zabot, M. T.; Elpeleg, O. N.: The molecular basis of Canavan (aspartoacylase deficiency) disease in European non-Jewish patients. Am. J. Hum. Genet. 57: 572-580, 1995.
[0023693]14281.Sistermans, E. A.; de Coo, R. F. M.; van Beerendonk, H. M.; Poll-The, B. T.; Kleijer, W. J.; van Oost, B. A.: Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population. Europ. J. Hum. Genet. 8: 557-560, 2000.
[0023694]14282.Ungar, M.; Goodman, R. M.: Spongy degeneration of the brain in Israel: a retrospective study. Clin. Genet. 23: 23-29, 1983.
[0023695]14283.van Bogaert, L.: Familial spongy degeneration of the brain. (Complementary study of the family R). Acta Psychiat. Neurol. Scand. 39: 107-113, 1963.
[0023696]14284.ZuRhein, G. M.; Eichman, P. L.; Puletti, F.: Familial idiocy with spongy degeneration of the central nervous system of van Bogaert-Bertrand type. Neurology 10: 998-1006, 1960.
[0023697]14285.Gorlin, J. B.; Yamin, R.; Egan, S.; Stewart, M.; Stossel, T. P.; Kwiatkowski, D. J.; Hartwig, J. H.: Human endothelial actin-binding protein (ABP-280, nonmuscle filamin): a molecular leaf spring. J. Cell Biol. 111: 1089-1105, 1990.
[0023698]14286.Huttenlocher, P. R.; Taravath, S.; Mojtahedi, S.: Periventricular heterotopia and epilepsy. Neurology 44: 51-55, 1994.
[0023699]14287.Kunst, C. B.; Henske, E.; Hartwig, J. H.; Kwiatkowski, D. J.; D'Urso, M.; Bruns, G.; Warren, S. T.; Gorlin, J. B.: The dystrophin-like actin binding protein 280 gene maps between DXS52 and G6PD overlapping the Emery-Dreifuss muscular dystrophy locus. (Abstract) Am. J. Hum. Genet. 51: A21, 1992.
[0023700]14288.Maestrini, E.; Patrosso, C.; Mancini, M.; Rivella, S.; Rocchi, M.; Repetto, M.; Villa, A.; Frattini, A.; Zoppe, M.; Vezzoni, P.; Toniolo, D.: Mapping of two genes encoding isoforms of the actin binding protein ABP-280, a dystrophin like protein, to Xq28 and to chromosome 7. Hum. Molec. Genet. 2: 761-766, 1993.
[0023701]14289.Maestrini, E.; Rivella, S.; Tribioli, C.; Purtilo, D.; Rocchi, M.; Archidiacono, N.; Toniolo, D.: Probes for CpG islands on the distal long arm of the human X chromosome are clustered in Xq24 and Xq28. Genomics 8: 664-670, 1990.
[0023702]14290.Patrosso, M. C.; Repetto, M.; Villa, A.; Milanesi, L.; Frattini, A.; Faranda, S.; Mancini, M.; Maestrini, E.; Toniolo, D.; Vezzoni, P.: The exon-intron organization of the human X-linked gene (FLN1) encoding actin-binding protein 280. Genomics 21: 71-76, 1994.
[0023703]14291.Sheen, V. L.; Dixon, P. H.; Fox, J. W.; Hong, S. E.; Kinton, L.; Sisodiya, S. M.; Duncan, J. S.; Dubeau, F.; Scheffer, I. E.; Schachter, S. C.; Wilner, A.; Henchy, R.; and 18 others: Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. Hum. Molec. Genet. 10: 1775-1783, 2001.
[0023704]14292.Small, K.; Wagener, M.; Warren, S. T.: Isolation and characterization of the complete mouse emerin gene. Mammalian Genome 8: 337-341, 1997.
[0023705]14293.Vadlamudi, R. K.; Li, F.; Adam, L.; Nguyen, D.; Ohta, Y.; Stossel, T. P.; Kumar, R.: Filamin is essential in actin cytoskeletal assembly mediated by p21-activated kinase 1. Nature Cell Biol. 4: 681-690, 2002.
[0023706]14294.Faranda, S.; Frattini, A.; Vezzoni, P.: The human genes encoding renin-binding protein and host cell factor are closely linked in Xq28 and transcribed in the same direction. Gene 155: 237-239, 1995.
[0023707]14295.Frattini, A.; Chatterjee, A.; Faranda, S.; Sacco, M. G.; Villa, A.; Herman, G. E.; Vezzoni, P.: The chromosome localization and the HCF repeats of the human host cell factor gene (HCFC1) are conserved in the mouse homologue. Genomics 32: 277-280, 1996.
[0023708]14296.Frattini, A.; Faranda, S.; Redolfi, E.; Zucchi, I.; Villa, A.; Patrosso, M. C.; Strina, D.; Susani, L.; Vezzoni, P.: Genomic organization of the human VP16 accessory protein, a housekeeping gene (HCFC1) mapping to Xq28. Genomics 23: 30-35, 1994.
[0023709]14297.Wilson, A. C.; LaMarco, K.; Peterson, M. G.; Herr, W.: The VP16 accessory protein HCF is a family of polypeptides processed from a large precursor protein. Cell 74: 115-125, 1993.
[0023710]14298.Wilson, A. C.; Parrish, J. E.; Massa, H. F.; Nelson, D. L.; Trask, B. J.; Herr, W.: The gene encoding the VP16-accessory protein HCF (HCFC1) resides in human Xq28 and is highly expressed in fetal tissues and the adult kidney. Genomics 25: 462-468, 1995.
[0023711]14299.Zoppe, M.; Frattini, A.; Faranda, S.; Vezzoni, P.: The complete sequence of the host cell factor 1 (HCFC1) gene and its promoter: a role for YY1 transcription factor in the regulation of its expression. Genomics 34: 85-91, 1996.
[0023712]14300.Maestrini, E.; Tamagnone, L.; Longati, P.; Cremona, O.; Gulisano, M.; Bione, S.; Tamanini, F.; Neel, B. G.; Toniolo, D.; Comoglio, P. M.: A family of transmembrane proteins with homology to the MET-hepatocyte growth factor receptor. Proc. Nat. Acad. Sci. 93: 674-678, 1996.
[0023713]14301.Tamagnone, L.; Artigiani, S.; Chen, H.; He, Z.; Ming, G.; Song, H.; Chedotal, A.; Winberg, M. L.; Goodman, C. S.; Poo, M.; Tessier-Lavigne, M.; Comoglio, P. M.: Plexins are a large family of receptors for transmembrane, secreted, and GPI-anchored semaphorins in vertebrates. Cell 99: 71-80, 1999.
[0023714]14302.Nolte, D.; Ramser, J.; Niemann, S.; Lehrach, H.; Sudbrak, R.; Muller, U.: ACRC codes for a novel nuclear protein with unusual acidic repeat tract and maps to DYT3 (dystonia parkinsonism) critical interval in Xq13.1. Neurogenetics 3: 207-213, 2001.
[0023715]14303.Kitagawa, H.; Fujita, M.; Ito, N.; Sugahara, K.: Molecular cloning and expression of a novel chondroitin 6-O-sulfotransferase. J. Biol. Chem. 275: 21075-21080, 2000.
[0023716]14304.Becker, P. E.: Two new families of benign sex-linked recessive muscular dystrophy. Rev. Canad. Biol. 21: 551-566, 1962.
[0023717]14305.Becker, P. E.: Eine neue X-chromosomale Muskeldystrophie. Acta Psychiat. Neurol. Scand. 193: 427, 1955.
[0023718]14306.Becker, P. E.: Neue Ergebnisse der Genetik der Muskeldystrophien. Acta Genet. Statist. Med. 7: 303-310, 1957.
[0023719]14307.Bushby, K. M. D.; Cleghorn, N. J.; Curtis, A.; Haggerty, I. D.; Nicholson, L. V. B.; Johnson, M. A.; Harris, J. B.; Bhattacharya, S. S.: Identification of a mutation in the promoter region of the dystrophin gene in a patient with atypical Becker muscular dystrophy. Hum. Genet. 88: 195-199, 1991.
[0023720]14308.Doriguzzi, C.; Palmucci, L.; Mongini, T.; Chiado-Piat, L.; Restagno, G.; Ferrone, M.: Exercise intolerance and recurrent myoglobinuria as the only expression of Xp21 Becker type muscular dystrophy. J. Neurol. 240: 269-271, 1993.
[0023721]14309.England, S. B.; Nicholson, L. V. B.; Johnson, M. A.; Forrest, S. M.; Love, D. R.; Zubrzycka-Gaarn, E. E.; Bulman, D. E.; Harris, J. B.; Davies, K. E.: Very mild muscular dystrophy associated with the deletion of 46% dystrophin. Nature 343: 180-182, 1990.
[0023722]14310.Derry, J. M. J.; Barnard, P. J.: Physical linkage of the A-raf-1, properdin, synapsin I, and TIMP genes on the human and mouse X chromosomes. Genomics 12: 632-638, 1992.
[0023723]14311.Beales, P. L.; Katsanis, N.; Lewis, R. A.; Ansley, S. J.; Elcioglu, N.; Raza, J.; Woods, M. O.; Green, J. S.; Parfrey, P. S.; Davidson, W. S.; Lupski, J. R.: Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci. Am. J. Hum. Genet. 68: 606-616, 2001.
[0023724]14312.Slavotinek, A. M.; Searby, C.; Al-Gazali, L.; Hennekam, R. C. M.; Schrander-Stumpel, C.; Orcana-Losa, M.; Pardo-Reoyo, S.; Cantani, A.; Kumar, D.; Capellini, Q.; Neri, G.; Zackai, E.; Biesecker, L. G.: Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients. Hum. Genet. 110: 561-567, 2002.
[0023725]14313.Stone, D. L.; Slavotinek, A.; Bouffard, G. G.; Banerjee-Basu, S.; Baxevanis, A. D.; Barr, M.; Biesecker, L. G.: Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. Nature Genet. 25: 79-82, 2000.
[0023726]14314.Buhman, K. K.; Smith, S. J.; Stone, S. J.; Repa, J. J.; Wong, J. S.; Knapp, F. F., Jr.; Burri, B. J.; Hamilton, R. L.; Abumrad, N. A.; Farese, R. V., Jr.: DGAT1 is not essential for intestinal triacylglycerol absorption or chylomicron synthesis. J. Biol. Chem. 277: 25474-25479, 2002.
[0023727]14315.Cases, S.; Smith, S. J.; Zheng, Y.-W.; Myers, H. M.; Lear, S. R.; Sande, E.; Novak, S.; Collins, C.; Welch, C. B.; Lusis, A. J.; Erickson, S. K.; Farese, R. V., Jr.: Identification of a gene encoding an acyl CoA:diacylglycerol acyltransferase, a key enzyme in triacylglycerol synthesis. Proc. Nat. Acad. Sci. 95: 13018-13023, 1998.
[0023728]14316.Cheng, D.; Meegalla, R. L.; He, B.; Cromley, D. A.; Billheimer, J. T.; Young, P. R.: Human acyl-CoA:diacylglycerol acyltransferase is a tetrameric protein. Biochem. J. 359: 707-714, 2001.
[0023729]14317.Grisart, B.; Coppieters, W.; Farnir, F.; Karim, L.; Ford, C.; Berzi, P.; Cambisano, N.; Mni, M.; Reid, S.; Simon, P.; Spelman, R.; Georges, M.; Snell, R.: Positional candidate cloning of a QTL in dairy cattle: identification of a missense mutation in the bovine DGAT1 gene with major effect on milk yield and composition. Genome Res. 12: 222-231, 2002.
[0023730]14318.Haile, D. J.: Assignment of Slc11a3 to mouse chromosome 1 band 1B and SLC11A3 to human chromosome 2q21 by in situ hybridization. Cytogenet. Cell Genet. 88: 328-329, 2000.
[0023731]14319.McKie, A. T.; Marciani, P.; Rolfs, A.; Brennan, K.; Wehr, K.; Barrow, D.; Miret, S.; Bomford, A.; Peters, T. J.; Farzaneh, F.; Hediger, M. A.; Hentze, M. W.; Simpson, R. J.: A novel duodenal iron-regulated transporter, IREG1, implicated in the basolateral transfer of iron to the circulation. Molec. Cell 5: 299-309, 2000.
[0023732]14320.Montosi, G.; Donovan, A.; Totaro, A.; Garuti, C.; Pignatti, E.; Cassanelli, S.; Trenor, C. C.; Gasparini, P.; Andrews, N. C.; Pietrangelo, A.: Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. J. Clin. Invest. 108: 619-623, 2001.
[0023733]14321.Njajou, O. T.; Vaessen, N.; Joosse, M.; Berghuis, B.; van Dongen, J. W. F.; Breuning, M. H.; Snijders, P. J. L. M.; Rutten, W. P. F.; Sandkuijl, L. A.; Oostra, B. A.; van Duijn, C. M.; Heutink, P.: A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. Nature Genet. 28: 213-214, 2001.
[0023734]14322.Roetto, A.; Merryweather-Clarke, A. T.; Daraio, F.; Livesey, K.; Pointon, J. J.; Barbabietola, G.; Piga, A.; Mackie, P. H.; Robson, K. J. H.; Camaschella, C.: A valine deletion of ferroportin 1: a common mutation in hemochromatosis type 4? (Letter) Blood 100: 733-734, 2002.
[0023735]14323.Wallace, D. F.; Pedersen, P.; Dixon, J. L.; Stephenson, P.; Searle, J. W.; Powell, L. W.; Subramaniam, V. N.: Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis. Blood 100: 692-694, 2002.
[0023736]14324.Aronsson, F. C.; Magnusson, P.; Andersson, B.; Karsten, S. L.; Shibasaki, Y.; Lendon, C. L.; Goate, A. M.; Brookes, A. J: The NIK protein kinase and C17orf1 genes: chromosomal mapping, gene structures and mutational screening in frontotemporal dementia and parkinsonism linked to chromosome 17. Hum. Genet. 103: 340-345, 1998.
[0023737]14325.Malinin, N. L.; Boldin, M. P.; Kovalenko, A. V.; Wallach, D.: MAP3K-related kinase involved in NF-kappaB induction by TNF, CD95 and IL-1. Nature 385: 540-544, 1997.
[0023738]14326.Shinkura, R.; Kitada, K.; Matsuda, F.; Tashiro, K.; Ikuta, K.; Suzuki, M.; Kogishi, K.; Serikawa, T.; Honjo, T.: Alymphoplasia is caused by a point mutation in the mouse gene encoding Nfkappa-b-inducing kinase. Nature Genet. 22: 74-77, 1999.
[0023739]14327.Smith, C.; Andreakos, E.; Crawley, J. B.; Brennan, F. M.; Feldmann, M.; Foxwell, B. M. J.: NF-kappa-B-inducing kinase is dispensable for activation of NF-kappa-B in inflammatory settings but essential for lymphotoxin beta receptor activation of NF-kappa-B in primary human fibroblasts. J. Immun. 167: 5895-5903, 2001.
[0023740]14328.Yin, L.; Wu, L.; Wesche, H.; Arthur, C. D.; White, J. M.; Goeddel, D. V.; Schreiber, R. D.: Defective lymphotoxin-beta receptor-induced NF-kappa-B transcriptional activity in NIK-deficient mice. Science 291: 2162-2165, 2001.
[0023741]14329.Aronsson, F. C.; Magnusson, P.; Andersson, B.; Karsten, S. L.; Shibasaki, Y.; Lendon, C. L.; Goate, A. M.; Brookes, A. J.: The NIK protein kinase and C17orf1 genes: chromosomal mapping, gene structures and mutational screening in frontotemporal dementia and parkinsonism linked to chromosome 17. Hum. Genet. 103: 340-345, 1998.
[0023742]14330.Yayoshi-Yamamoto, S.; Taniuchi, I.; Watanabe, T.: FRL, a novel formin-related protein, binds to Rac and regulates cell motility and survival of macrophages. Molec. Cell. Biol. 20: 6872-6881, 2000.
[0023743]14331.Borggrefe, T.; Masat, L.; Wabl, M.; Riwar, B.; Cattoretti, G.; Jessberger, R.: Cellular, intracellular, and developmental expression patterns of murine SWAP-70. Europ. J. Immun. 29: 1812-1822, 1999.
[0023744]14332.Borggrefe, T.; Wabl, M.; Akhmedov, A. T.; Jessberger, R.: A B-cell-specific DNA recombination complex. J. Biol. Chem. 273: 17025-17035, 1998.
[0023745]14333.Masat, L.; Caldwell, J.; Armstrong, R.; Khoshnevisan, H.; Jessberger, R.; Herndier, B.; Wabl, M.; Ferrick, D.: Association of SWAP-70 with the B cell antigen receptor complex. Proc. Nat. Acad. Sci. 97: 2180-2184, 2000.
[0023746]14334.Masat, L.; Liddell, R. A.; Mock, B. A.; Kuo, W.-L.; Jessberger, R.; Wabl, M.; Morse, H. C., III: Mapping of the SWAP70 gene to mouse chromosome 7 and human chromosome 11p15. Immunogenetics 51: 16-19, 2000.
[0023747]14335.Shinohara, M.; Terada, Y.; Iwamatsu, A.; Shinohara, A.; Mochizuki, N.; Higuchi, M.; Gotoh, Y.; Ihara, S.; Nagata, S.; Itoh, H.; Fukui, Y.; Jessberger, R.: SWAP-70 is a guanine-nucleotideexchange factor that mediates signalling of membrane ruffling. Nature 416: 759-763, 2002.
[0023748]14336.Kourlas, P. J.; Strout, M. P.; Becknell, B.; Veronese, M. L.; Croce, C. M.; Theil, K. S.; Krahe, R.; Ruutu, T.; Knuutila, S.; Bloomfield, C. D.; Caligiuri, M. A.: Identification of a gene at 11q23 encoding a guanine nucleotide exchange factor: evidence for its fusion with MLL in acute myeloid leukemia. Proc. Nat. Acad. Sci. 97: 2145-2150, 2000.
[0023749]14337.Miura, K.; Suzuki, K.; Tokino, T.; Isomura, M.; Inazawa, J.; Matsuno, S.; Nakamura, Y.: Detailed deletion mapping in squamous cell carcinomas of the esophagus narrows a region containing a putative tumor suppressor gene to about 200 kilobases on distal chromosome 9q. Cancer Res. 56: 1629-1634, 1996.
[0023750]14338.Nishiwaki, T.; Daigo, Y.; Kawasoe, T.; Nakamura, Y.: Isolation and mutational analysis of a novel human cDNA, DEC1 (deleted in esophageal cancer 1), derived from the tumor suppressor locus in 9q32. Genes Chromosomes Cancer 27: 169-176, 2000.
[0023751]14339.Delettre, C.; Griffoin, J.-M.; Kaplan, J.; Dollfus, H.; Lorenz, B.; Faivre, L.; Lenaers, G.; Belenguer, P.; Hamel, C. P.: Mutation spectrum and splicing variants in the OPA1 gene. Hum. Genet. 109: 584-591, 2001.
[0023752]14340.Thompson, M. A.; Moon, E.; Kim, U.-J.; Xu, J.; Siciliano, M. J.; Weinshilboum, R. M.: Human indolethylamine N-methyltransferase: cDNA cloning and expression, gene cloning, and chromosomal localization. Genomics 61: 285-297, 1999.
[0023753]14341.Bespalova, I. N.; Burmeister, M.: Identification of a novel LIM domain gene, LMCD1, and chromosomal localization in human and mouse. Genomics 63: 69-74, 2000.
[0023754]14342.Valladeau, J.; Clair-Moninot, V.; Dezutter-Dambuyant, C.; Pin, J.-J.; Kissenpfennig, A.; Mattei, M.-G.; Ait-Yahia, S.; Bates, E. E. M.; Malissen, B.; Koch, F.; Fossiez, F.; Romani, N.; Lebecque, S.; Saeland, S.: Identification of mouse langerin/CD207 in Langerhans cells and some dendritic cells of lymphoid tissues. J. Immun. 168: 782-792, 2002.
[0023755]14343.Valladeau, J.; Ravel, O.; Dezutter-Dambuyant, C.; Moore, K.; Kleijmeer, M.; Liu, Y.; Duvert-Frances, V.; Vincent, C.; Schmitt, D.; Davoust, J.; Caux, C.; Lebecque, S.; Saeland, S.: Langerin, a novel C-type lectin specific to Langerhans cells, is an endocytic receptor that induces the formation of Birbeck granules. Immunity 12: 71-81, 2000.
[0023756]14344.Ruiz, A.; Kuehn, M. H.; Andorf, J. L.; Stone, E.; Hageman, G. S.; Bok, D.: Genomic organization and mutation analysis of the gene encoding lecithin retinol acyltransferase in human retinal pigment epithelium. Invest. Ophthal. Vis. Sci. 42: 31-37, 2001.
[0023757]14345.Ruiz, A.; Winston, A.; Lim, Y.-H.; Gilbert, B. A.; Rando, R. R.; Bok, D.: Molecular and biochemical characterization of lecithin retinol acyltransferase. J. Biol. Chem. 274: 3834-3841, 1999.
[0023758]14346.Thompson, D. A.; Li, Y.; McHenry, C. L.; Carlson, T. J.; Ding, X.; Sieving, P. A.; Apfelstedt-Sylla, E.; Gal, A.: Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy. Nature Genet. 28: 123-124, 2001.
[0023759]14347.Reichenberger, E.; Tiziani, V.; Watanabe, S.; Park, L.; Ueki, Y.; Santanna, C.; Baur, S. T.; Shiang, R.; Grange, D. K.; Beighton, P.; Gardner, J.; Hamersma, H.; Sellars, S.; Ramesar, R.; Lidral, A. C.; Sommer, A.; Raposo do Amaral, C. M.; Gorlin, R. J.; Mulliken, J. B.; Olsen, B. R.: Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK. Am. J. Hum. Genet. 68: 1321-1326, 2001.
[0023760]14348.Im, D.-S.; Heise, C. E.; Ancellin, N.; O'Dowd, B. F.; Shei, G.; Heavens, R. P.; Rigby, M. R.; Hla, T.; Mandala, S.; McAllister, G.; George, S. R.; Lynch, K. R.: Characterization of a novel sphingosine 1-phosphate receptor, Edg-8. J. Biol. Chem. 275: 14281-14286, 2000.
[0023761]14349.Li, Z.; Yao, K.; Cao, Y.: Molecular cloning of a novel tissue-specific gene from human nasopharyngeal epithelium. Gene 237: 235-240, 1999.
[0023762]14350.Derst, C.; Engel, H.; Grzeschik, K.-H.; Daut, J.: Genomic structure and chromosome mapping of human and mouse RAMP genes. Cytogenet. Cell Genet. 90: 115-118, 2000.
[0023763]14351.Amler, L. C.; Bauer, A.; Corvi, R.; Dihlmann, S.; Praml, C.; Cavenee, W. K.; Schwab, M.; Hampton, G. M.: Identification and characterization of novel genes located at the t(1;15)(p36.2;q24) translocation breakpoint in the neuroblastoma cell line NGP. Genomics 64: 195-202, 2000.
[0023764]14352.Yanagisawa, H.; Bundo, M.; Miyashita, T.; Okamura-Oho, Y.; Tadokoro, K.; Tokunaga, K.; Yamada, M.: Protein binding of a DRPLA family through arginine-glutamic acid dipeptide repeats is enhanced by extended polyglutamine. Hum. Molec. Genet. 9: 1433-1442, 2000.
[0023765]14353.Oh, J.; Takahashi, R.; Kondo, S.; Mizoguchi, A.; Adachi, E.; Sasahara, R. M.; Nishimura, S.; Imamura, Y.; Kitayama, H.; Alexander, D. B.; Ide, C.; Horan, T. P.; Arakawa, T.; Yoshida, H.; Nishikawa, S.; Itoh, Y.; Seiki, M.; Itohara, S.; Takahashi, C.; Noda, M.: The membraneanchored MMP inhibitor RECK is a key regulator of extracellular matrix integrity and angiogenesis. Cell 107: 789-800, 2001.
[0023766]14354.Takahashi, C.; Sheng, Z.; Horan, T. P.; Kitayama, H.; Maki, M.; Hitomi, K.; Kitaura, Y.; Takai, S.; Sasahara, R. M.; Horimoto, A.; Ikawa, Y.; Ratzkin, B. J.; Arakawa, T.; Noda, M.: Regulation of matrix metalloproteinase-9 and inhibition of tumor invasion by the membrane-anchored glycoprotein RECK. Proc. Nat. Acad. Sci. 95: 13221-13226, 1998.
[0023767]14355.Nagase, T.; Ishikawa, I.; Nakajima, D.; Ohira, M.; Seki, N.; Miyajima, N.; Tanaka, A.; Kotani, H.; Nomura, N.; O'Hara, O.: Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. DNA Res. 4: 141-150, 1997.
[0023768]14356.Johnston, R. L.; Seller, M. J.; Behnam, J. T.; Burdon, M. A.; Spalton, D. J.: Dominant optic atrophy: refining the clinical diagnostic criteria in light of genetic linkage studies. Ophthalmology 106: 123-128, 1999.
[0023769]14357.Jones, B. A.; Fangman, W. L.: Mitochondrial DNA maintenance in yeast requires a protein containing a region related to the GTP-binding domain of dynamin. Genes Dev. 6: 380-389, 1992.
[0023770]14358.Pelloquin, L.; Belenguer, P.; Menon, Y.; Ducommun, B.: Identification of a fission yeast dynamin-related protein involved in mitochondrial DNA maintenance. Biochem. Biophys. Res. Commun. 251: 720-726, 1998.
[0023771]14359.Pelloquin, L.; Belenguer, P.; Menon, Y.; Gas, N.; Ducommun, B. : Fission yeast Msp1 is a mitochondrial dynamin-related protein. J. Cell Sci. 112: 4151-4161, 1999.
[0023772]14360.Pesch, U. E. A.; Leo-Kottler, B.; Mayer, S.; Jurklies, B.; Kellner, U.; Apfelstedt-Sylla, E.; Zrenner, E.; Alexander, C.; Wissinger, B. : OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance. Hum. Molec. Genet. 10: 1359-1368, 2001.
[0023773]14361.Thiselton, D. L.; Alexander, C.; Morris, A.; Brooks, S.; Rosenberg, T.; Eiberg, H.; Kjer, B.; Kjer, P.; Bhattacharya, S. S.; Votruba, M.: A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect. Hum. Genet. 109: 498-502, 2001.
[0023774]14362.Toomes, C.; Marchbank, N. J.; Mackey, D. A.; Craig, J. E.; Newbury-Ecob, R. A.; Bennett, C. P.; Vize, C. J.; Desai, S. P.; Black, G. C. M.; Patel, N.; Teimory, M.; Markham, A. F.; Inglehearn, C. F.; Churchill, A. J.: Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy. Hum. Molec. Genet. 10: 1369-1378, 2001.
[0023775]14363.Muto, A.; Hoshino, H.; Madisen, L.; Yanai, N.; Obinata, M.; Karasuyama, H.; Hayashi, N.; Nakauchi, H.; Yamamoto, M.; Groudine, M.; Igarashi, K.: Identification of Bach2 as a Bcell-specific partner for small Maf proteins that negatively regulate the immunoglobulin heavy chain gene 3-prime enhancer. EMBO J. 17: 5734-5743, 1998.
[0023776]14364.Sasaki, S.; Ito, E.; Toki, T.; Maekawa, T.; Kanezaki, R.; Umenai, T.; Muto, A.; Nagai, H.; Kinoshita, T.; Yamamoto, M.; Inazawa, J.; Taketo, M. M.; Nakahata, T.; Igarashi, K.; Yokoyama, M.: Cloning and expression of human B cell-specific transcription factor BACH2 mapped to chromosome 6q15. Oncogene 19: 3739-3749, 2000.
[0023777]14365.Shimaoka, T.; Kume, N.; Minami, M.; Hayashida, K.; Kataoka, H.; Kita, T.; Yonehara, S.: Molecular cloning of a novel scavenger receptor for oxidized low density lipoprotein, SR-PSOX, on macrophages. J. Biol. Chem. 275: 40663-40666, 2000.
[0023778]14366.Wilbanks, A.; Zondlo, S. C.; Murphy, K.; Mak, S.; Soler, D.; Langdon, P.; Andrew, D. P.; Wu, L.; Briskin, M.: Expression cloning of the STRL33/BONZO/TYMSTR ligand reveals elements of CC, CXC, CX3C chemokines. J. Immun. 166: 5145-5154, 2001.
[0023779]14367.Matsumoto, T.; Shimamoto, A.; Goto, M.; Furuichi, Y.: Impaired nuclear localization of defective DNA helicases in Werner's syndrome. (Letter) Nature Genet. 16: 335-336, 1997.
[0023780]14368.Meisslitzer, C.; Ruppitsch, W.; Weirich-Schwaiger, H.; Weirich, H. G.; Jabkowsky, J.; Klein, G.; Schweiger, M.; Hirsch-Kauffmann, M.: Werner syndrome: characterization of mutations in the WRN gene in an affected family. Europ. J. Hum. Genet. 5: 364-370, 1997.
[0023781]14369.Monnat, R. J., Jr.: Unusual features of thyroid carcinomas in Japanese patients with Werner syndrome and possible genotype-phenotype relations to cell type and race. (Letter) Cancer 86: 728-729, 1999.
[0023782]14370.Moser, M. J.; Oshima, J.; Monnat, R. J., Jr.: WRN mutations in Werner syndrome. Hum. Mutat. 13: 271-279, 1999.
[0023783]14371.Oshima, J.; Yu, C.-E.; Piussan, C.; Klein, G.; Jabkowski, J.; Balci, S.; Miki, T.; Nakura, J.; Ogihara, T.; Ells, J.; Smith, M. A. C.; Melaragno, M. I.; Fraccaro, M.; Scappaticci, S.; Matthews, J.; Ouais, S.; Jarzebowicz, A.; Schellenberg, G. D.; Martin, G. M. : Homozygous and compound heterozygous mutations at the Werner syndrome locus. Hum. Molec. Genet. 5: 1909-1913, 1996.
[0023784]14372.Sinclair, D. A.; Guarente, L.: Extrachromosomal rDNA circles--a cause of aging in yeast. Cell 91: 1033-1042, 1997.
[0023785]14373.Wyllie, F. S.; Jones, C. J.; Skinner, J. W.; Haughton, M. F.; Wallis, C.; Wynford-Thomas, D.; Faragher, R. G. A.; Kipling, D.: Telomerase prevents the accelerated cell ageing of Werner syndrome fibroblasts. (Letter) Nature Genet. 24: 16-17, 2000.
[0023786]14374.Yamagata, K.; Kato, J.; Shimamoto, A.; Goto, M.; Furuichi, Y.; Ikeda, H.: Bloom's and Werner's syndrome genes suppress hyperrecombination in yeast sgs1 mutant: implication for genomic instability in human diseases. Proc. Nat. Acad. Sci. 95: 8733-8738, 1998.
[0023787]14375.Yan, H.; Chen, C.-Y.; Kobayashi, R.; Newport, J.: Replication focus-forming activity 1 and the Werner syndrome gene product. Nature Genet. 19: 375-378, 1998.
[0023788]14376.Yan, H.; Newport, J.: FFA-1, a protein that promotes the formation of replication centers within nuclei. Science 269: 1883-1885, 1995.
[0023789]14377.Hughes-Benzie, R. M.; Pilia, G.; Xuan, J. Y.; Hunter, A. G. W.; Chen, E.; Golabi, M.; Hurst, J. A.; Kobori, J.; Marymee, K.; Pagon, R. A.: Simpson-Golabi-Behmel syndrome: genotype/phenotype analysis of 18 affected males from 7 unrelated families. Am. J. Med. Genet. 66: 227-234, 1996.
[0023790]14378.Lindsay, S.; Ireland, M.; O'Brien, O.; Clayton-Smith, J.; Hurst, J. A.; Mann, J.; Cole, T.; Sampson, J.; Slaney, S.; Schlessinger, D.; Burn, J.; Pilia, G.: Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome. J. Med. Genet. 34: 480-483, 1997.
[0023791]14379.Pilia, G.; Hughes-Benzie, R. M.; MacKenzie, A.; Baybayan, P.; Chen, E. Y.; Huber, R.; Neri, G.; Cao, A.; Forabosco, A.; Schlessinger, D.: Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome. Nature Genet. 12: 241-247, 1996.
[0023792]14380.Shen, T.; Sonoda, G.; Hamid, J.; Li, M.; Filmus, J.; Buick, R. N.; Testa, J. R.: Mapping of the Simpson-Golabi-Behmel overgrowth syndrome gene (GPC3) to chromosome X in human and rat by fluorescence in situ hybridization. Mammalian Genome 8: 72 only, 1997.
[0023793]14381.Veugelers, M.; De Cat, B.; Muyldermans, S. Y.; Reekmans, G.; Delande, N.; Frints, S.; Legius, E.; Fryns, J.-P.; Schrander-Stumpel, C.; Weidle, B.; Magdalena, N.; David, G.: Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene. Hum. Molec. Genet. 9: 1321-1328, 2000.
[0023794]14382.Weksberg, R.; Squire, J. A.; Templeton, D. M.: Glypicans: a growing trend. Nature Genet. 12: 225-227, 1996.
[0023795]14383.Xuan, J. Y.; Hughes-Benzie, R. M.; MacKenzie, A. E.: A small interstitial deletion in the GPC3 gene causes Simpson-Golabi-Behmel syndrome in a Dutch-Canadian family. J. Med. Genet. 36: 57-58, 1999.
[0023796]14384.Brown, C. J.; Miller, A. P.; Carrel, L.; Rupert, J. L.; Davies, K. E.; Willard, H. F.: The DXS423E gene in Xp11.21 escapes X chromosome inactivation. Hum. Molec. Genet. 4: 251-255, 1995.
[0023797]14385.Sumara, I.; Vorlaufer, E.; Gieffers, C.; Peters, B. H.; Peters, J.-M.: Characterization of vertebrate cohesin complexes and their regulation in prophase. J. Cell Biol. 151: 749-761, 2000.
[0023798]14386.Teague, P. W.; Aldred, M. A.; Jay, M.; Dempster, M.; Harrison, C.; Carothers, A. D.; Hardwick, L. J.; Evans, H. J.; Strain, L.; Brock, D. J. H.; Bundey, S.; Jay, B.; Bird, A. C.; Bhattacharya, S. S.; Wright, A. F.: Heterogeneity analysis in 40 X-linked retinitis pigmentosa families. Am. J. Hum. Genet. 55: 105-111, 1994.
[0023799]14387.Bodrug, S. E.; Ray, P. N.; Gonzalez, I. L.; Schmickel, R. D.; Sylvester, J. E.; Worton, R. G.: Molecular analysis of a constitutional X-autosome translocation in a female with muscular dystrophy. Science 237: 1620-1624, 1987.
[0023800]14388.Boyce, F. M.; Beggs, A. H.; Feener, C.; Kunkel, L. M.: Dystrophin is transcribed in brain from a distant upstream promoter. Proc. Nat. Acad. Sci. 88: 1276-1280, 1991.
[0023801]14389.Boyd, Y.; Buckle, V. J.: Cytogenetic heterogeneity of translocations associated with Duchenne muscular dystrophy. Clin. Genet. 29: 108-115, 1986.
[0023802]14390.Bulman, D. E.; Gangopadhyay, S. B.; Bebchuck, K. G.; Worton, R. G.; Ray, P. N.: Point mutation in the human dystrophin gene: identification through Western blot analysis. Genomics 10: 457-460, 1991.
[0023803]14391.Burke, J. F.; Mogg, A. E.: Suppression of a nonsense mutation in mammalian cells in vivo by the aminoglycoside antibiotics G-418 and paromomycin. Nucleic Acids Res. 13: 6265-6272, 1985.
[0023804]14392.Burnette, W. N.: 'Western blotting': electrophoretic transfer of proteins from sodium dodecyl sulfate-polyacrylamide gels to unmodified nitrocellulose and radiographic detection with antibody and radioiodinated protein A. Anal. Biochem. 112: 195-203, 1981.
[0023805]14393.Chamberlain, J. S.; Pearlman, J. A.; Muzny, D. M.; Gibbs, R. A.; Ranier, J. E.; Reeves, A. A.; Caskey, C. T.: Expression of the murine Duchenne muscular dystrophy gene in muscle and brain. Science 239: 1416-1418, 1988.
[0023806]14394.Chelly, J.; Concordet, J.-P.; Kaplan, J.-C.; Kahn, A.: Illegitimate transcription: transcription of any gene in any cell type. Proc. Nat. Acad. Sci. 86: 2617-2621, 1989.
[0023807]14395.Chelly, J.; Gilgenkrantz, H.; Hugnot, J. P.; Hamard, G.; Lambert, M.; Recan, D.; Akli, S.; Cometto, M.; Kahn, A.; Kaplan, J. C.: Illegitimate transcription: application to the analysis of truncated transcripts of the dystrophin gene in nonmuscle cultured cells from Duchenne and Becker patients. J. Clin. Invest. 88: 1161-1166, 1991.
[0023808]14396.Chelly, J.; Hamard, G.; Koulakoff, A.; Kaplan, J.-C.; Kahn, A.; Berwald-Netter, Y.: Dystrophin gene transcribed from different promoters in neuronal and glial cells. Nature 344: 64-65, 1990.
[0023809]14397.Chelly, J.; Kaplan, J.-C.; Maire, P.; Gautron, S.; Kahn, A.: Transcription of the dystrophin gene in human muscle and non-muscle tissues. Nature 333: 858-860, 1988.
[0023810]14398.Clemens, P. R.; Ward, P. A.; Caskey, C. T.; Bulman, D. E.; Fenwick, R. G.: Premature chain termination mutation causing Duchenne muscular dystrophy. Neurology 42: 1775-1782, 1992.
[0023811]14399.Cooper, B. J.; Valentine, B. A.; Wilson, S.; Patterson, D. F.; Concannon, P. W.: Canine muscular dystrophy: confirmation of X-linked inheritance. J. Hered. 79: 405-408, 1988.
[0023812]14400.Covone, A. E.; Lerone, M.; Romeo, G.: Genotype-phenotype correlation and germline mosaicism in DMD/BMD patients with deletions of the dystrophin gene. Hum. Genet. 87: 353-360, 1991.
[0023813]14401.Cox, G. A.; Cole, N. M.; Matsumura, K.; Phelps, S. F.; Hauschka, S. D.; Campbell, K. P.; Faulkner, J. A.; Chamberlain, J. S.: Overexpression of dystrophin in transgenic mdx mice eliminates dystrophic symptoms without toxicity. Nature 364: 725-729, 1993.
[0023814]14402.Cox, G. A.; Sunada, Y.; Campbell, K. P.; Chamberlain, J. S.: Dp71 can restore the dystrophin-associated glycoprotein complex in muscle but fails to prevent dystrophy. Nature Genet. 8: 333-339, 1994.
[0023815]14403.Comi, G. P.; Ciafaloni, E.; de Silva, H. A. R.; Prelle, A.; Bardoni, A.; Rigoletto, C.; Robotti, M.; Bresolin, N.; Moggio, M.; Fortunato, F.; Ciscato, P.; Turconi, A.; Rose, A. D.; Scarlato, G.: A G(+1)-to-A transversion at the 5-prime splice site of intron 69 of the dystrophin gene causing the absence of peripheral nerve Dp116 and severe clinical involvement in a DMD patient. Hum. Molec. Genet. 4: 2171-2174, 1995.
[0023816]14404.Crawford, G. E.; Lu, Q. L.; Partridge, T. A.; Chamberlain, J. S.: Suppression of revertant fibers in mdx mice by expression of a functional dystrophin. Hum. Molec. Genet. 10: 2745-2750, 2001.
[0023817]14405.Darras, B. T.; Blattner, P.; Harper, J. F.; Spiro, A. J.; Alter, S.; Francke, U.: Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mutations. Am. J. Hum. Genet. 43: 620-629, 1988.
[0023818]14406.Darras, B. T.; Francke, U.: Normal human genomic restriction-fragment patterns and polymorphisms revealed by hybridization with the entire dystrophin cDNA. Am. J. Hum. Genet. 43: 612-619, 1988.
[0023819]14407.Darras, B. T.; Francke, U.: A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male. Nature 329: 556-558, 1987.
[0023820]14408.Davies, K. E.; Smith, T. J.; Bundey, S.; Read, A. P.; Flint, T.; Bell, M.; Speer, A.: Mild and severe muscular dystrophy associated with deletions in Xp21 of the human X chromosome. J. Med. Genet. 25: 9-13, 1988.
[0023821]14409.De Angelis, F. G.; Sthandier, O.; Berarducci, B.; Toso, S.; Galluzzi, G.; Ricci, E.; Cossu, G.; Bozzoni, I.: Chimeric snRNA molecules carrying antisense sequences against the splice junctions of exon 51 of the dystrophin pre-mRNA induce exon skipping and restoration of a dystrophin synthesis in delta-48-50 DMD cells. Proc Nat. Acad. Sci. 99: 9456-9461, 2002.
[0023822]14410.den Dunnen, J. T.; Bakker, E.; Klein Breteler, E. G.; Pearson, P. L.; van Ommen, G. J. B.: Direct mutation of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels. Nature 329: 640-642, 1987.
[0023823]14411.Dickson, G.; Pizzey, J. A.; Elsom, V. E.; Love, D.; Davies, K. E.; Walsh, F. S.: Distinct dystrophin mRNA species are expressed in embryonic and adult mouse skeletal muscle. FEBS Lett. 242: 47-52, 1988.
[0023824]14412.Dominguez-Steglich, M.; Meng, G.; Bettecken, T.; Muller, C. R.; Schmid, M.: The dystrophin gene is autosomally located on a microchromosome in chicken. Genomics 8: 536-540, 1990.
[0023825]14413.Doolittle, R. F.: Similar amino acid sequences: chance or common ancestry? Science 214: 149-159, 1981.
[0023826]14414.Zhou, J.; Mochizuki, T.; Smeets, H.; Antignac, C.; Laurila, P.; de Paepe, A.; Tryggvason, K.; Reeders, S. T.: Deletion of the paired alpha-5(IV) and alpha-6(IV) collagen genes in inherited smooth muscle tumors. Science 261: 1167-1169, 1993.
[0023827]14415.Bolscher, B. G. J. M.; de Boer, M.; de Klein, A.; Weening, R. S.; Roos, D.: Point mutations in the beta-subunit of cytochrome b(558) leading to X-linked chronic granulomatous disease. Blood 77: 2482-2487, 1991.
[0023828]14416.Borregaard, N.; Cross, A. R.; Herlin, T.; Jones, O. T. G.; Segal, A. W.; Valerius, N. H.: A variant form of X-linked chronic granulomatous disease with normal nitroblue tetrazolium slide test and cytochrome b. Europ. J. Clin. Invest. 13: 243-248, 1983.
[0023829]14417.Branch, D. R.; Gaidulis, L.; Lazar, G. S.: Human granulocytes lack red cell Kx antigen. Brit. J. Haemat. 62: 747-755, 1986.
[0023830]14418.Brandrup, F.; Koch, C.; Petri, M.; Schiodt, M.; Johansen, K. S. : Discoid lupus erythematosus-like lesions and stomatitis in female carriers of X-linked chronic granulomatous disease. Brit. J. Derm. 104: 495-505, 1981.
[0023831]14419.Brockdorff, N.; Fisher, E. M. C.; Orkin, S. H.; Lyon, M. F.; Brown, S. D. M.: Localization of the human X-linked gene for chronic granulomatous disease to the mouse X chromosome: implications for X-chromosome evolution. Cytogenet. Cell Genet. 48: 124-125, 1988.
[0023832]14420.Brzica, S. M., Jr.; Rhodes, K. H.; Pineda, A. A.; Taswell, H. F.: Chronic granulomatous disease and the McLeod phenotype: successful treatment of infection with granulocyte transfusions resulting in subsequent hemolytic transfusion reaction. Mayo Clin. Proc. 52: 153-156, 1977.
[0023833]14421.Buescher, E. S.; Alling, D. W.; Gallin, J. I.: Use of an X-linked human neutrophil marker to estimate timing of lyonization and size of the dividing stem cell pool. J. Clin. Invest. 76: 1581-1584, 1985.
[0023834]14422.Carson, M. J.; Chadwick, D. L.; Brubaker, C. A.; Cleland, R. S.; Landing, B. H.: Thirteen boys with progressive septic granulomatosis. Pediatrics 35: 405-412, 1965.
[0023835]14423.Clark, R. A.; Malech, H. L.; Gallin, J. I.; Nunoi, H.; Volpp, B. D.; Pearson, D. W.; Nauseef, W. M.; Curnutte, J. T.: Genetic variants of chronic granulomatous disease: prevalence of deficiencies of two cytosolic components of the NADPH oxidase system. New Eng. J. Med. 321: 647-652, 1989.
[0023836]14424.Condino-Neto, A.; Newburger, P. E.: Interferon-gamma improves splicing efficiency of CYBB gene transcripts in an interferon-responsive variant of chronic granulomatous disease due to a splice site consensus region mutation. Blood 95: 3548-3554, 2000.
[0023837]14425.Cross, A. R.; Curnutte, J. T.; Rae, J.; Heyworth, P. G.: Hematologically important mutations: X-linked chronic granulomatous disease. Blood Cells Mol. Dis. 22: 90-95, 1996.
[0023838]14426.Curnutte, J. T.: Classification of chronic granulomatous disease. Hemat. Oncol. Clin. North Am. 2: 241-252, 1988.
[0023839]14427.Curnutte, J. T.; Hopkins, P. J.; Kuhl, W.; Beutler, E.: Studying X inactivation. (Letter) Lancet 339: 749 only, 1992.
[0023840]14428.Curnutte, J. T.; Kipnes, R. S.; Babior, B. M.: Defect in pyridine nucleotide dependent superoxide production by a particulate fraction from the granulocytes of patients with chronic granulomatous disease. New Eng. J. Med. 293: 628-632, 1975.
[0023841]14429.Curnutte, J. T.; Whitten, D. M.; Babior, B. M.: Defective superoxide production by granulocytes from patients with chronic granulomatous disease. New Eng. J. Med. 290: 593-597, 1974.
[0023842]14430.D'Amelio, R.; Bellavite, P.; Bianco, P.; De Sole, P.; Le Moli, S.; Lippa, S.; Seminara, R.; Vercelli, B.; Rossi, F.; Rocchi, G.; Aiuti, F.: Chronic granulomatous disease in two sisters. J. Clin. Immun. 4: 220-227, 1984.
[0023843]14431.Danks, D. M.: Personal Communication. Melbourne, Australia 1966.
[0023844]14432.de Boer, M.; Bakker, E.; Van Lierde, S.; Roos, D.: Somatic triple mosaicism in a carrier of X-linked chronic granulomatous disease. Blood 91: 252-257, 1998.
[0023845]14433.de Boer, M.; Bolscher, B. G. J. M.; Sijmons, R. H.; Scheffer, H.; Weening, R. S.; Roos, D.: Prenatal diagnosis in a family with X-linked chronic granulomatous disease with the use of the polymerase chain reaction. Prenatal Diag. 12: 773-777, 1992.
[0023846]14434.Densen, P.; Wilkinson-Kroovand, S.; Mandell, G. L.; Sullivan, G.; Oyen, R.; Marsh, W. L.: Kx: its relationship to chronic granulomatous disease and genetic linkage with Xg. Blood 58: 34-37, 1981.
[0023847]14435.Dilworth, J. A.; Mandell, G. L.: Adults with chronic granulomatous disease of 'childhood.'. Am. J. Med. 63: 233-243, 1977.
[0023848]14436.Dinauer, M.; Parkos, C. A.; Jesaitis, A. J.; Orkin, S. H.: Identification of the in vivo protein encoded by the gene mutated in X-linked chronic granulomatous disease (X-CGD). (Abstract) Clin. Res. 35: 598A only, 1987.
[0023849]14437.Dinauer, M. C.; Curnutte, J. T.; Rosen, H. R.; Orkin, S. H.: A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous disease. J. Clin. Invest. 84: 2012-2016, 1989.
[0023850]14438.Dinauer, M. C.; Orkin, S. H.: Chronic granulomatous disease: molecular genetics. Hemat. Oncol. Clin. North Am. 2: 225-240, 1988.
[0023851]14439.Dinauer, M. C.; Orkin, S. H.; Brown, R.; Jesaitis, A. J.; Parkos, C. A.: The glycoprotein encoded by the X-linked chronic granulomatous disease locus is a component of the neutrophil cytochrome b complex. Nature 327: 717-720, 1987.
[0023852]14440.Dinauer, M. C.; Orkin, S. H.; Hurst, J. K.; Parkos, C. A.; Jesaitis, A. J.; Rosen, H.; Curnutte, J. T.: A missense mutation in the neutrophil cytochrome b heavy chain leading to X-linked chronic granulomatous disease (X-CGD). (Abstract) Clin. Res. 37: 544A only, 1989.
[0023853]14441.Edwards, J. H.: Inheritance of chronic granulomatous disease. (Letter) Lancet II: 850-851, 1969.
[0023854]14442.Eissa, N. T.; Strauss, A. J.; Haggerty, C. M.; Choo, E. K.; Chu, S. C.; Moss, J.: Alternative splicing of human inducible nitric-oxide synthase mRNA. Tissue-specific regulation and induction by cytokines. J. Biol. Chem. 271: 27184-27187, 1996.
[0023855]14443.Ezekowitz, R. A. B.: What is the best way to treat inherited disorders? (Editorial) New Eng. J. Med. 344: 926-927, 2001.
[0023856]14444.Fikrig, S. M.; Phillipp, J. C. D.; Smithwick, E. M.; Oyen, R.; Marsh, W. L.: Chronic granulomatous disease and McLeod syndrome in a black child. Pediatrics 66: 403-404, 1980.
[0023857]14445.Bassi, M. T.; Bergen, A. A. B.; Bitoun, P.; Charles, S. J.; Clementi, M.; Gosselin, R.; Hurst, J.; Lewis, R. A.; Lorenz, B.; Meitinger, T.; Messiaen, L.; Ramesar, R. S.; Ballabio, A.; Schiaffino, M. V. : Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America. Hum. Genet. 108: 51-54, 2001.
[0023858]14446.Oldfors, A.; Kyllerman, M.; Wahlstrom, J.; Darnfors, C.; Henriksson, K. G.: X-linked myotubular myopathy: clinical and pathological findings in a family. Clin. Genet. 36: 5-14, 1989.
[0023859]14447.Samson, F.; Mesnard, L.; Heimburger, M.; Hanauer, A.; Chevallay, M.; Mercadier, J. J.; Pelissier, J. F.; Feingold, N.; Junien, C.; Mandel, J.-L.; Fardeau, M.: Genetic linkage heterogeneity in myotubular myopathy. Am. J. Hum. Genet. 57: 120-126, 1995.
[0023860]14448.Sarnat, H. B.: Myotubular myopathy: arrest of morphogenesis of myofibres associated with persistence of fetal vimentin and desmin: four cases compared with fetal and neonatal muscle. Can. J. Neurol. Sci. 17: 109-123, 1990.
[0023861]14449.Sarnat, H. B.: Vimentin and desmin in maturing skeletal muscle and developmental myopathies. Neurology 42: 1616-1624, 1992.
[0023862]14450.Sarnat, H. B.; Roth, S. I.; Jimenez, J. F.: Neonatal myotubular myopathy: neuropathy and failure of postnatal maturation of fetal muscle. Canad. J. Neurol. Sci. 8: 313-320, 1981.
[0023863]14451.Sawchak, J. A.; Sher, J. H.; Norman, M. G.; Kula, R. W.; Shafiq, S. A.: Centronuclear myopathy heterogeneity: distinction of clinical types by myosin isoform patterns. Neurology 41: 135-140, 1991.
[0023864]14452.Spiro, A. J.; Shy, G. M.; Gonatas, N. K.: Myotubular myopathy. Arch. Neurol. 14: 1-14, 1966.
[0023865]14453.Starr, J.; Lamont, M.; Iselius, L.; Harvey, J.; Heckmatt, J.: A linkage study of a large pedigree with X linked centronuclear myopathy. J. Med. Genet. 27: 281-283, 1990.
[0023866]14454.Sutton, I. J.; Winer, J. B.; Norman, A. N.; Liechti-Gallati, S.; MacDonald, F.: Limb girdle and facial weakness in female carriers of X-linked myotubular myopathy mutations. Neurology 57: 900-902, 2001.
[0023867]14455.Tanner, S. M.; Laporte, J.; Guiraud-Chaumeil, C.; Liechti-Gallati, S.: Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene. Hum. Mutat. 11: 62-68, 1998.
[0023868]14456.Tanner, S. M.; Orstavik, K. H.; Kristiansen, M.; Lev, D.; Lerman-Sagie, T.; Sadeh, M.; Liechti-Gallati, S.: Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother. Hum. Genet. 104: 249-253, 1999.
[0023869]14457.Taylor, G. S.; Maehama, T.; Dixon, J. E.: Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate. Proc. Nat. Acad. Sci. 97: 8910-8915, 2000.
[0023870]14458.Thomas, N. S. T.; Sarfarazi, M.; Roberts, K.; Williams, H.; Cole, G.; Liechti-Gallati, S.; Harper, P. S.: X-linked myotubular myopathy (MTM1): evidence for linkage to Xq28 DNA markers.(Abstract) Cytogenet. Cell Genet. 46: 704, 1987.
[0023871]14459.Thomas, N. S. T.; Williams, H.; Cole, G.; Roberts, K.; Clarke, A.; Liechti-Gallati, S.; Braga, S.; Gerber, A.; Meier, C.; Moser, H.; Harper, P. S.: X linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci. J. Med. Genet. 27: 284-287, 1990.
[0023872]14460.Torres, C. F.; Griggs, R. C.; Goetz, J. P.: Severe neonatal centronuclear myopathy with autosomal dominant inheritance. Arch. Neurol. 42: 1011-1014, 1985.
[0023873]14461.Van Wijngaarden, G. K.; Fleury, P.; Bethlem, J.; Meijer, A. E. F. H.: Familial 'myotubular' myopathy. Neurology 19: 901-908, 1969.
[0023874]14462.Vincent, M. C.; Guiraud-Chaumeil, C.; Laporte, J.; Manouvrier-Hanu, S.; Mandel, J. L.: Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity. J. Med. Genet. 35: 241-243, 1998.
[0023875]14463.Wallgren-Pettersson, C.; Clarke, A.; Samson, F.; Fardeau, M.; Dubowitz, V.; Moser, H.; Grimm, T.; Barohn, R. J.; Barth, P. G.: The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies. J. Med. Genet. 32: 673-679, 1995.
[0023876]14464.Williams, H.; Cole, G.; Thomas, N.; Brown, C.; Sarfarazi, M.: Lethal X-linked myotubular myopathy.(Abstract) J. Med. Genet. 22: 138, 1985.
[0023877]14465.Williams, H.; Sarfarazi, M.; Roberts, K.; Thomas, N. S. T.; Cole, G.; Leichti-Gallati, S.; Harper, P. S.: X-linked myotubular myopathy (XLMTM): another muscle disease gene localized to Xq28.(Abstract) Am. J. Hum. Genet. 41: A110, 1987.
[0023878]14466.Bassi, M. T.; Schiaffino, M. V.; Renieri, A.; De Nigris, F.; Galli, L.; Bruttini, M.; Gebbia, M.; Bergen, A. A. B.; Lewis, R. A.; Ballabio, A.: Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. Nature Genet. 10: 13-19, 1995.
[0023879]14467.Bergen, A. A. B.; Samanns, C.; Schuurman, E. J. M.; van Osch, L.; van Dorp, D. B.; Pinckers, A. J. L. G.; Bakker, E.; Gal, A.; van Ommen, G. J. B.; Bleeker-Wagemakers, E. M.: Multipoint linkage analysis in X-linked ocular albinism of the Nettleship-Falls type. Hum. Genet. 88: 162-166, 1991.
[0023880]14468.Bergen, A. A. B.; Schuurman, E. J. M.; van den Born, L. I.; Samanns, C.; van Dorp, D. B.; Pinckers, A. J. L. G.; Bakker, E.; van Ommen, G. J. B.; Gal, A.; Bleeker-Wagemakers, E. M.: Carrier detection in X-linked ocular albinism of the Nettleship-Falls type by DNA analysis. Clin. Genet. 41: 135-138, 1992.
[0023881]14469.Bergen, A. A. B.; Zijp, P.; Schuurman, E. J. M.; Bleeker-Wagemakers, E. M.; Apkarian, P.; van Ommen, G.-J. B.: Refinement of the localization of the X-linked ocular albinism gene. Genomics 16: 272-273, 1993.
[0023882]14470.Bouloux, P.-M. G.; Kirk, J.; Munroe, P.; Duke, V.; Meindl, A.; Hilson, A.; Grant, D.; Carter, N.; Betts, D.; Meitinger, T.; Besser, G. M.: Deletion analysis maps ocular albinism proximal to the steroid sulphatase locus. Clin. Genet. 43: 169-173, 1993.
[0023883]14471.Charles, S. J.; Green, J. S.; Moore, A. T.; Barton, D. E.; Yates, J. R. W.: Genetic mapping of X-linked ocular albinism: linkage analysis in a large Newfoundland kindred. Genomics 16: 259-261, 1993.
[0023884]14472.Charles, S. J.; Moore, A. T.; Yates, J. R. W.: Genetic mapping of X linked ocular albinism: linkage analysis in British families. J. Med. Genet. 29: 552-554, 1992.
[0023885]14473.Cooper, D. N.; Krawczak, M.: Mechanisms of insertional mutagenesis in human genes causing genetic disease. Hum. Genet. 87: 409-415, 1991.
[0023886]14474.Creel, D.; O'Donnell, F. E., Jr.; Witkop, C. J., Jr.: Visual system anomalies in human ocular albinos. Science 201: 931-933, 1978.
[0023887]14475.d'Addio, M.; Pizzigoni, A.; Bassi, M. T.; Baschirotto, C.; Valetti, C.; Incerti, B.; Clementi, M.; De Luca, M.; Ballabio, A.; Schiaffino, M. V.: Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1. Hum. Molec. Genet. 9: 3011-3018, 2000.
[0023888]14476.Engelhard, C. F.: Eine Familie mit hereditaerem Nystagmus. Z. Ges. Neurol. Psychiat. 28: 319-338, 1915.
[0023889]14477.Fialkow, P. J.; Giblett, E. R.; Motulsky, A. G.: Measurable linkage between ocular albinism and Xg. Am. J. Hum. Genet. 19: 63-69, 1967.
[0023890]14478.Francois, J.; Deweer, J. P.: Albinisme oculaire lie au sexe et alterations caracteristiques du fond d'oeil chez les femmes heterozygotes. Ophthalmologica 126: 209-221, 1953.
[0023891]14479.Gillespie, F. D.: Ocular albinism with report of a family with female carriers. Arch. Ophthal. 66: 774-777, 1961.
[0023892]14480.Incerti, B.; Cortese, K.; Pizzigoni, A.; Surace, E. M.; Varani, S.; Coppola, M.; Jeffery, G.; Seeliger, M.; Jaissle, G.; Bennett, D. C.; Marigo, V.; Schiaffino, M. V.; Tacchetti, C.; Ballabio, A. : Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1. Hum. Molec. Genet. 9: 2781-2788, 2000.
[0023893]14481.Jaeger, C.; Jay, B.: X-linked ocular albinism: a family containing a manifesting heterozygote, and an affected male married to a female with autosomal recessive ocular albinism. Hum. Genet. 56: 299-304, 1981.
[0023894]14482.Johnson, G. J.; Gillan, J. G.; Pearce, W. G.: Ocular albinism in Newfoundland. Can. J. Ophthal. 6: 237-248, 1971.
[0023895]14483.Kidd, J. R.; Castiglione, C. M.; Davies, K. E.; Pakstis, A. J.; Gusella, J.; Sparkes, R. S.; Pearson, P.; Willard, H.; Kidd, K. K. : Mapping the locus for X-linked ocular albinism (OA). (Abstract) Am. J. Hum. Genet. 37: A161 only, 1985.
[0023896]14484.Krawczak, M.; Reiss, J.; Cooper, D. N.: The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum. Genet. 90: 41-54, 1992.
[0023897]14485.Lein, J. N.; Stewart, C. T.; Moll, F. C.: Sex-linked hereditary nystagmus. Pediatrics 18: 214-217, 1956.
[0023898]14486.Lyon, M. F.: Sex chromatin and gene action in the mammalian X-chromosome. Am. J. Hum. Genet. 14: 135-148, 1962.
[0023899]14487.Meindl, A.; Hosenfeld, D.; Bruckl, W.; Schuffenhauer, S.; Jenderny, J.; Bacskulin, A.; Oppermann, H.-C.; Swensson, O.; Bouloux, P.; Meitinger, T.: Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism. J. Med. Genet. 30: 838-842, 1993.
[0023900]14488.Negrelli, B. C.: L'albinisme oculaire lie au sexe dans le cadre du depistage des heterozygotes en ophtalmologie. J. Genet. Hum. 8: 108 only, 1959.
[0023901]14489.Newton, J. M.; Orlow, S. J.; Barsh, G. S.: Isolation and characterization of a mouse homolog of the X-linked ocular albinism (OA1) gene. Genomics 37: 219-225, 1996.
[0023902]14490.O'Donnell, F. E., Jr.; Green, W. R.; Fleishman, J. A.; Hambrick, G. W.: X-linked ocular albinism in Blacks: ocular albinism cum pigmento. Arch. Ophthal. 96: 1189-1192, 1978.
[0023903]14491.O'Donnell, F. E., Jr.; Hambrick, G. W., Jr.; Green, W. R.; Iliff, W. J.; Stone, D. L.: Xlinked ocular albinism: an oculocutaneous macromelanosomal disorder. Arch. Ophthal. 94: 1883-1892, 1976.
[0023904]14492.Oetting, W. S.: New insights into ocular albinism type 1 (OA1): mutations and polymorphisms of the OA1 gene. Hum. Mutat. 19: 85-92, 2002.
[0023905]14493.Pearce, W. G.; Johnson, G. J.; Gillan, J. G.: Nystagmus in a female carrier of ocular albinism. J. Med. Genet. 9: 126-128, 1972.
[0023906]14494.Pearce, W. G.; Johnson, G. J.; Sanger, R.: Ocular albinism and Xg. (Letter) Lancet I: 1072 only, 1971.
[0023907]14495.Pearce, W. G.; Sanger, R.: X mapping in man: evidence against direct measurable linkage between ocular albinism and deutan colour blindness. J. Med. Genet. 13: 319 only, 1976.
[0023908]14496.McCabe, E. R. B.: Human glycerol kinase deficiency: an inborn error of compartment metabolism. Biochem. Med. 30: 215-230, 1983.
[0023909]14497.Basler, E.; Grompe, M.; Parenti, G.; Yates, J.; Ballabio, A.: Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis. Am. J. Hum. Genet. 50: 483-491, 1992.
[0023910]14498.Bernatowicz, L. F.; Li, X.-M.; Carrozzo, R.; Ballabio, A.; Mohandas, T.; Yen, P. H.; Shapiro, L. J.: Sequence analysis of a partial deletion of the human steroid sulfatase gene reveals 3 bp of homology at deletion breakpoints. Genomics 13: 892-893, 1992.
[0023911]14499.Bonifas, J. M.; Morley, B. J.; Oakey, R. E.; Kan, Y. W.; Epstein, E. H., Jr.: Cloning of a cDNA for steroid sulfatase: frequent occurrence of gene deletions in patients with recessive X chromosome-linked ichthyosis. Proc. Nat. Acad. Sci. 84: 9248-9251, 1987.
[0023912]14500.Buckle, V. J.; Edwards, J. H.; Evans, E. P.; Jonasson, J. A.; Lyon, M. F.; Peters, J.; Searle, A. G.: Comparative maps of human and mouse X chromosomes. (Abstract) Cytogenet. Cell Genet. 40: 594-595, 1985.
[0023913]14501.Burns, G.: On the identity of arylsulphatase C and steroid sulphatase. Hum. Genet. 65: 189, 1983.
[0023914]14502.Chance, P. F.; Gartler, S. M.: Evidence for a dosage effect at the X-linked steroid sulfatase locus in human tissues. Am. J. Hum. Genet. 35: 234-240, 1983.
[0023915]14503.Chang, P. L.; Lafferty, K. I.; Rosa, N. E.; Davidson, R. G.: Arylsulfatase-C isozymes in human tissues. (Abstract) Am. J. Hum. Genet. 33: 38A, 1981.
[0023916]14504.Cockayne, E. A.: Inherited Abnormalities of the Skin and Its Appendages. London: Oxford Univ. Press (pub.) 1933. Pp. 213 only.
[0023917]14505.Conary, J. T.; Lorkowski, G.; Schmidt, B.; Pohlmann, R.; Nagel, G.; Meyer, H. E.; Krentler, C.; Cully, J.; Hasilik, A.; von Figura, K.: Genetic heterogeneity of steroid sulfatase deficiency revealed with cDNA for human steroid sulfatase. Biochem. Biophys. Res. Commun. 144: 1010-1017, 1987.
[0023918]14506.Cooper, D. W.; McAllan, B. M.; Donald, J. A.; Dawson, G.; Dobrovic, A.; Marshall Graves, J. A.: Steroid sulphatase is not detected on the X chromosome of Australian marsupials. (Abstract) Cytogenet. Cell Genet. 37: 439, 1984.
[0023919]14507.Craig, I. W.; Tolley, E.: Steroid sulphatase and the conservation of mammalian X chromosomes. Trends Genet. 2: 201-204, 1986.
[0023920]14508.Csorsz, K.: Ichthyosis (X-linked). Mschr. Unfallheilk. Med. 2: 180, 1928. Note: Alternate: Haut. Geschlechtskr. 26: 463, 1928...
[0023921]14509.Cuevas-Covarrubias, S. A.; Kofman-Alfaro, S.; Orozco Orozco, E.; Diaz-Zagoya, J. C.: The biochemical identification of carrier state in mothers of sporadic cases of X-linked recessive ichthyosis. Genet. Counsel. 6: 103-107, 1995.
[0023922]14510.Czeizel, A.: A historical evaluation of the doctrine of heredodegeneration. Orv. Hetil. 120: 722, and 840, and 963, 1979.
[0023923]14511.DeUnamuno, P.; Martin-Pascual, A.; Garcia-Perez, A.: X-linked ichthyosis. Brit. J. Derm. 97: 53-58, 1977.
[0023924]14512.Eicher, E. M.: Personal Communication. Bar Harbor, Me. 1974.
[0023925]14513.Elias, P. M.; Williams, M. L.; Maloney, M. E.; Bonifas, J. A.; Brown, B. E.; Grayson, S.; Epstein, E. H., Jr.: Stratum corneum lipids in disorders of cornification: steroid sulfatase and cholesterol sulfate in normal desquamation and the pathogenesis of recessive X-linked ichthyosis. J. Clin. Invest. 74: 1414-1421, 1984.
[0023926]14514.Epstein, E. H., Jr.; Bonifas, J. M.: Recessive X-linked ichthyosis: lack of immunologically detectable steroid sulfatase enzyme protein. Hum. Genet. 71: 201-205, 1985.
[0023927]14515.Epstein, E. H., Jr.; Krauss, R. M.; Shackleton, C. H. L.: X-linked ichthyosis: increased blood cholesterol sulfate and electrophoretic mobility of low-density lipoprotein. Science 214: 659-660, 1981.
[0023928]14516.Epstein, E. H., Jr.; Williams, M. L.; Elias, P. M.: Steroid sulfatase, X-linked ichthyosis, and stratum corneum cell cohesion. Arch. Derm. 117: 761-763, 1981.
[0023929]14517.Filippi, G.; Meera Khan, P.: Linkage studies on X-linked ichthyosis in Sardinia. Am. J. Hum. Genet. 20: 564-569, 1968.
[0023930]14518.France, J. T.; Downey, J. A.: A study of arylsulfatase activity in children born of pregnancies affected with placental sulfatase deficiency. Biochem. Med. 10: 167-174, 1974.
[0023931]14519.France, J. T.; Liggins, G. C.: Placental sulfatase deficiency. J. Clin. Endocr. 29: 138-141, 1969.
[0023932]14520.France, J. T.; Seddons, R. J.; Liggins, G. C.: A study of a pregnancy with low estrogen production due to placental sulfatase deficiency. J. Clin. Endocr. 36: 1-9, 1973.
[0023933]14521.Freiberg, R. A.; Choate, K. A.; Deng, H.; Alperin, E. S.; Shapiro, L. J.; Khavari, P. A.: A model of corrective gene transfer in X-linked ichthyosis. Hum. Molec. Genet. 6: 927-933, 1997.
[0023934]14522.Gant, N. F.; Milewich, L.; Calvert, M. E.; MacDonald, P. C.: Steroid sulfatase activity in human fetal membranes. J. Clin. Endocr. 45: 965-972, 1977.
[0023935]14523.Garcia Perez, A.; Crespo, M.: X-linked ichthyosis associated with hypertrophic pyloric stenosis in three brothers. Clin. Exp. Derm. 6: 159-161, 1981.
[0023936]14524.Gartler, S. M.; Andina, R. J.: Mammalian X-chromosome inactivation. Adv. Hum. Genet. 7: 99-140, 1976.
[0023937]14525.Gartler, S. M.; Rivest, M.: Evidence for X-linkage of steroid sulfatase in the mouse: steroid sulfatase levels in oocytes of XX and XO mice. Genetics 103: 137-141, 1983.
[0023938]14526.Gillard, E. F.; Affara, N. A.; Yates, J. R. W.; Goudie, D. R.; Cooke, A.; Lambert, J.; Aitken, D. A.; Ferguson-Smith, M. A.: Deletion of a DNA probe DXS237 (GMGX9) in twelve of fifteen males with X-linked ichthyosis (steroid sulphatase deficiency). (Abstract) Cytogenet. Cell Genet. 46: 620, 1987.
[0023939]14527.Gillard, E. F.; Affara, N. A.; Yates, J. R. W.; Goudie, D. R.; Lambert, J.; Aitken, D. A.; Ferguson-Smith, M. A.: Deletion of a DNA sequence in eight of nine families with X-linked ichthyosis (steroid sulphatase deficiency). Nucleic Acids Res. 15: 3977-3985, 1987.
[0023940]14528.Gladstein, K.; Shapiro, L. J.; Spence, M. A.: Estimating sex ratio biases in X-linked disorders: is there an excess of males in families with X-linked ichthyosis?. Am. J. Hum. Genet. 31: 741-746, 1979.
[0023941]14529.Gohlke, B. C.; Haug, K.; Fukami, M.; Friedl, W.; Noeker, M.; Rappold, G. A.; Haverkamp, F.: Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy. J. Med. Genet. 37: 600-602, 2000.
[0023942]14530.Beresford, R. G.; Tatlidil, C.; Riddell, D. C.; Welch, J. P.; Ludman, M. D.; Neumann, P. E.; Greer, W. L.: Absence of fragile X syndrome in Nova Scotia. J. Med. Genet. 37: 77-79, 2000.
[0023943]14531.Blomquist, H. K.; Bohman, M.; Edvinsson, S. O.; Gillberg, C.; Gustavson, K.-H.; Holmgren, G.; Wahlstrom, J.: Frequency of the fragile X syndrome in infantile autism: a Swedish multicenter study. Clin. Genet. 27: 113-117, 1985.
[0023944]14532.Blomquist, H. K.; Gustavson, K.-H.; Holmgren, G.; Nordenson, I.; Sweins, A.: Fragile site X chromosomes and X-linked mental retardation in severely retarded boys in a northern Swedish county: a prevalence study. Clin. Genet. 21: 209-214, 1982.
[0023945]14533.Bontekoe, C. J. M.; Bakker, C. E.; Nieuwenhuizen, I. M.; van der Linde, H.; Lans, H.; de Lange, D.; Hirst, M. C.; Oostra, B. A.: Instability of a (CGG)98 repeat in the Fmr1 promoter. Hum. Molec. Genet. 10: 1693-1699, 2001.
[0023946]14534.Bowen, P.; Biederman, B.; Swallow, K. A.: The X-linked syndrome of macroorchidism and mental retardation: further observations. Am. J. Med. Genet. 2: 409-414, 1978.
[0023947]14535.Brookwell, R.; Turner, G.: High resolution banding and the locus of the Xq fragile site. Hum. Genet. 63: 77, 1983.
[0023948]14536.Brown, V.; Jin, P.; Ceman, S.; Darnell, J. C.; O'Donnell, W. T.; Tenenbaum, S. A.; Jin, X.; Feng, Y.; Wilkinson, K. D.; Keene, J. D.; Darnell, R. B.; Warren, S. T.: Microarray identification of FMRP-associated brain mRNAs and altered mRNA translational profiles in fragile X syndrome. Cell 107: 477-487, 2001.
[0023949]14537.Brown, W. T.; Gross, A.; Chan, C.; Jenkins, E. C.; Mandel, J. L.; Oberle, I.; Arveiler, B.; Novelli, G.; Thibodeau, S.; Hagerman, R.; and 18 others: Multilocus analysis of the fragile X syndrome. Hum. Genet. 78: 201-205, 1988.
[0023950]14538.Brown, W. T.; Gross, A. C.; Chan, C. B.; Jenkins, E. C.: Genetic linkage heterogeneity in the fragile X syndrome. Hum. Genet. 71: 11-18, 1985.
[0023951]14539.Bundey, S.: Julia Bell, MRCS LRCP FRCP (1879-1979): Steamboat lady, statistician and geneticist. J. Med. Bio. 4: 8-13, 1996.
[0023952]14540.Camerino, G.; Mattei, M. G.; Mattei, J. F.; Jaye, M.; Mandel, J. L.: Close linkage of fragile X-linked mental retardation syndrome to haemophilia B and transmission through a normal male. Nature 306: 701-707, 1983.
[0023953]14541.Cantu, J. M.; Scaglia, H. E.; Gonzalez-Diddi, M.; Hernandez-Jauregui, P.; Morato, T.; Moreno, M. E.; Giner, J.; Alcantar, A.; Herrera, D.; Perez-Palacios, G.: Inherited congenital normofunctional testicular hyperplasia and mental deficiency. Hum. Genet. 41: 331-339, 1978.
[0023954]14542.Cantu, J. M.; Scaglia, H. E.; Medina, M.; Gonzalez-Diddi, M.; Morato, T.; Moreno, M. E.; Perez-Palacios, G.: Inherited congenital normofunctional testicular hyperplasia and mental deficiency. Hum. Genet. 33: 23-33, 1976.
[0023955]14543.Carmi, R.; Meryash, D. L.; Wood, J.; Gerald, P. S.: Fragile-X syndrome ascertained by the presence of macro-orchidism in a 5-month-old infant. Pediatrics 74: 883-886, 1984.
[0023956]14544.Cavalli-Sforza, L.; Menozzi, P.; Piazza, A.: The History and Geography of Human Genes. Princeton: Princeton Univ. Press , 1994.
[0023957]14545.Chakravarti, A.: Fragile X founder effect? Nature Genet. 1: 237-238, 1992.
[0023958]14546.Chiurazzi, P.; Pomponi, M. G.; Pietrobono, R.; Bakker, C. E.; Neri, G.; Oostra, B. A.: Synergistic effect of histone hyperacetylation and DNA demethylation in the reactivation of the FMR1 gene. Hum. Molec. Genet. 8: 2317-2323, 1999.
[0023959]14547.Chiurazzi, P.; Pomponi, M. G.; Willemsen, R.; Oostra, B. A.; Neri, G.: In vitro reactivation of the FMR1 gene involved in fragile X syndrome. Hum. Molec. Genet. 7: 109-113, 1998.
[0023960]14548.Choo, K. H.; George, D.; Fillby, G.; Halliday, J. L.; Leversha, M.; Webb, G.; Danks, D. M.: Linkage analysis of X-linked mental retardation with and without fragile-X using factor IX gene probe. (Letter) Lancet II: 349, 1984.
[0023961]14549.Crawford, D. C.; Meadows, K. L.; Newman, J. L.; Taft, L. F.; Scott, E.; Leslie, M.; Shubek, L.; Holmgreen, P.; Yeargin-Allsopp, M.; Boyle, C.; Sherman, S. L.: Prevalence of the fragile X syndrome in African-Americans. Am. J. Med. Genet. 110: 226-233, 2002.
[0023962]14550.Crawford, D. C.; Wilson, B.; Sherman, S. L.: Factors involved in the initial mutation of the fragile X CGG repeat as determined by sperm small pool PCR. Hum. Molec. Genet. 9: 2909-2918, 2000.
[0023963]14551.Daker, M. G.; Chidiac, P.; Fear, C. N.; Berry, A. L.: Fragile X in a normal male: a cautionary tale. Lancet I: 780, 1981.
[0023964]14552.Dar, H.; Schaap, T.; Bait-Or, H.; Borochowitz, Z.; Gelman-Kohan, Z.; Chemke, T.; Chaki, R.; Cohen, H.; Falik-Borenstein, Z.; Chemke, J.: Ethnic distribution of the fragile X syndrome in Israel: evidence of founder chromosomes(?). Israel J. Med. Sci. 31: 323-325, 1995.
[0023965]14553.Darnell, J. C.; Jensen, K. B.; Jin, P.; Brown, V.; Warren, S. T.; Darnell, R. B.: Fragile X mental retardation protein targets G quartet mRNAs important for neuronal function. Cell 107: 489-499, 2001.
[0023966]14554.Davids, J. R.; Hagerman, R. J.; Eilert, R. E.: Orthopaedic aspects of fragile-X syndrome. J. Bone Joint Surg. 72A: 889-896, 1990.
[0023967]14555.Crawford, D. C.; Meadows, K. L.; Newman, J. L.; Taft, L. F.; Pettay, D. L.; Gold, L. B.; Hersey, S. J.; Hinkle, E. F.; Stanfield, M. L.; Holmgreen, P.; Yeargin-Allsopp, M.; Boyle, C.; Sherman, S. L.: Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population. Am. J. Hum. Genet. 64: 495-507, 1999.
[0023968]14556.Gaugitsch, H. W.; Prieschl, E. E.; Kalthoff, F.; Huber, N. E.; Baumruker, T.: A novel transiently expressed, integral membrane protein linked to cell activation: molecular cloning via the rapid degradation signal AUUUA. J. Biol. Chem 267: 11267-11273, 1992.
[0023969]14557.Kanai, Y.; Segawa, H.; Miyamoto, K.; Uchino, H.; Takeda, H.; Endou, H.: Expression cloning and characterization of a transporter for large neutral amino acids activated by the heavy chain of 4F2 antigen (CD98). J. Biol. Chem. 273: 23629-23632, 1998.
[0023970]14558.Amagai, M.; Wang, Y.; Minoshima, S.; Kawamura, K.; Green, K. J.; Nishikawa, T.; Shimizu, N.: Assignment of the human genes for desmocollin 3 (DSC3) and desmocollin 4 (DSC4) to chromosome 18q12. Genomics 25: 330-332, 1995.
[0023971]14559.Kawamura, K.; Watanabe, K.; Suzuki, T.; Yamakawa, T.; Kamiyama, T.; Nakagawa, H.; Tsurufuji, S.: cDNA cloning and expression of a novel human desmocollin. J. Biol. Chem. 269: 26295-26302, 1994.
[0023972]14560.King, I. A.; Sullivan, K. H.; Bennett, R., Jr.; Buxton, R. S.: The desmocollins of human foreskin epidermis: identification and chromosomal assignment of a third gene and expression patterns of the three isoforms. J. Invest. Derm. 105: 314-321, 1995.
[0023973]14561.Chan, E. K. L.; Takano, S.; Andrade, L. E. C.; Hamel, J. C.; Matera, A. G.: Structure, expression and chromosomal localization of human p80-coilin gene. Nucleic Acids Res. 22: 4462-4469, 1994.
[0023974]14562.Warburg, O.: On the origin of cancer cells. Science 123: 309-314, 1956.
[0023975]14563.Dubrovsky, A. L.; Taratuto, A. L.; Sevlever, G.; Schultz, M.; Pegoraro, E.; Hoop, R. C.; Hoffman, E. P.: Duchenne muscular dystrophy and myotonic dystrophy in the same patient. Am. J. Med. Genet. 55: 342-348, 1995.
[0023976]14564.Finlay, A. Y.; Kingston, H. M.; Holt, P. J. A.: Chronic granulomatous disease carrier geno-dermatosis (CGDCGD). Clin. Genet. 23: 276-280, 1983.
[0023977]14565.Goodfellow, P. N.; Tippett, P.: A human quantitative polymorphism related to Xg blood groups. Nature 289: 404-409, 1981.
[0023978]14566.Davies, K. E.; Mattei, M. G.; Mattei, J. F.; Veenema, H.; McGlade, S.; Harper, K.; Tommerup, N.; Nielsen, K. B.; Mikkelsen, M.; Beighton, P.; Drayna, D.; White, R.; Pembrey, M. E.: Linkage studies of X-linked mental retardation: high frequency of recombination in the telomeric region of the human X chromosome (fragile site/linkage/recombination/X chromosome). Hum. Genet. 70: 249-255, 1985.
[0023979]14567.Cazzola, M.; Bergamaschi, G.: X-linked Wiskott-Aldrich syndrome in a girl. (Letter) New Eng. J. Med. 338: 1850 only, 1998.
[0023980]14568.Emery, A. E. H.: Duchenne Muscular Dystrophy. Oxford, UK: Oxford University Press (pub.) (2nd ed.): 1993.
[0023981]14569.Fabb, S. A.; Wells, D. J.; Serpente, P.; Dickson, G.: Adeno-associated virus vector gene transfer and sarcolemmal expression of a 144 kDa micro-dystrophin effectively restores the dystrophin-associated protein complex and inhibits myofibre degeneration in nude/mdx mice. Hum. Molec. Genet. 11: 733-741, 2002.
[0023982]14570.Feener, C. A.; Boyce, F. M.; Kunkel, L. M.: Rapid detection of CA polymorphisms in cloned DNA: application to the 5-prime region of the dystrophin gene. Am. J. Hum. Genet. 48: 621-627, 1991.
[0023983]14571.Ferlini, A.; Galie, N.; Merlini, L.; Sewry, C.; Branzi, A.; Muntoni, F.: A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy. Am. J. Hum. Genet. 63: 436-446, 1998.
[0023984]14572.Finnegan, D. J.: Eukaryotic transposable elements and genome evolution. Trends Genet. 5: 103-107, 1989.
[0023985]14573.Forrest, S. M.; Cross, G. S.; Speer, A.; Gardner-Medwin, D.; Burn, J.; Davies, K. E.: Preferential deletion of exons in Duchenne and Becker muscular dystrophies. Nature 329: 638-640, 1987.
[0023986]14574.Francke, U.; Ochs, H. D.; de Martinville, B.; Giacalone, J.; Lindgren, V.; Disteche, C.; Pagon, R. A.; Hofker, M. H.; van Ommen, G.-J. B.; Pearson, P. L.; Wedgwood, R. J.: Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome. Am. J. Hum. Genet. 37: 250-267, 1985.
[0023987]14575.Furst, D.; Nave, R.; Osborn, M.; Weber, K.; Bardosi, A.; Archidiacono, N.; Ferro, M.; Romano, V.; Romeo, G.: Nebulin and titin expression in Duchenne muscular dystrophy appears normal. FEBS Lett. 224: 49-53, 1987.
[0023988]14576.Giacalone, J. P.; Francke, U.: Common sequence motifs at the rearrangement sites of a constitutional X/autosome translocation and associated deletion. Am. J. Hum. Genet. 50: 725-741, 1992.
[0023989]14577.Gillard, E. F.; Chamberlain, J. S.; Murphy, E. G.; Duff, C. L.; Smith, B.; Burghes, A. H. M.; Thompson, M. W.; Sutherland, J.; Oss, I.; Bodrug, S. E.; Klamut, H. J.; Ray, P. N.; Worton, R. G.: Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene. Am. J. Hum. Genet. 45: 507-520, 1989.
[0023990]14578.Ginjaar, I. B.; Kneppers, A. L. J.; Meulen, J.-D. M.; Anderson, L. V. B.; Bremmer-Bout, M.; van Deutekom, J. C. T.; Weegenaar, J.; den Dunnen, J. T.; Bakker, E.: Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family. Europ. J. Hum. Genet. 8: 793-796, 2000.
[0023991]14579.Greenberg, D. S.; Sunada, Y.; Campbell, K. P.; Yaffe, D.; Nudel, U.: Exogenous Dp71 restores the levels of dystrophin associated proteins but does not alleviate muscle damage in mdx mice. Nature Genet. 8: 340-344, 1994.
[0023992]14580.Gussoni, E.; Soneoka, Y.; Strickland, C. D.; Buzney, E. A.; Khan, M. K.; Flint, A. F.; Kunkel, L. M.; Mulligan, R. C.: Dystrophin expression in the mdx mouse restored by stem cell transplantation. Nature 401: 390-394, 1999.
[0023993]14581.Hagiwara, Y.; Mizuno, Y.; Takemitsu, M.; Matsuzaki, T.; Nonaka, I.; Ozawa, E.: Dystrophin-positive muscle fibers following C2 myoblast transplantation into mdx nude mice. Acta Neuropath. 90: 592-600, 1995.
[0023994]14582.Hagiwara, Y.; Nishio, H.; Kitoh, Y.; Takeshima, Y.; Narita, N.; Wada, H.; Yokoyama, M.; Nakamura, H.; Matsuo, M.: A novel point mutation (G(-1) to T) in a 5-prime splice donor site of intron 13 of the dystrophin gene results in exon skipping and is responsible for Becker muscular dystrophy. Am. J. Hum. Genet. 54: 53-61, 1994.
[0023995]14583.Hammonds, R. G., Jr.: Protein sequence of DMD gene is related to actin-binding domain of alpha-actinin. (Letter) Cell 51: 1, 1987.
[0023996]14584.Harper, S. Q.; Hauser, M. A.; DelloRusso, C.; Duan, D.; Crawford, R. W.; Phelps, S. F.; Harper, H. A.; Robinson, A. S.; Engelhardt, J. F.; Brooks, S. V.; Chamberlain, J. S.: Modular flexibility of dystrophin: implications for gene therapy of Duchenne muscular dystrophy. Nature Med. 8: 253-261, 2002.
[0023997]14585.Hart, K. A.; Hodgson, S.; Walker, A.; Cole, C. G.; Johnson, L.; Dubowitz, V.; Bobrow, M.: DNA deletions in mild and severe Becker muscular dystrophy. Hum. Genet. 75: 281-285, 1987.
[0023998]14586.Hodgson, S. V.; Abbs, S.; Clark, S.; Manzur, A.; Heckmatt, J. Z. H.; Dubowitz, V.; Bobrow, M.: Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy, with special reference to mental ability. Neuromusc. Disord. 2: 269-276, 1992.
[0023999]14587.Hoffman, E. P.; Brown, R. H., Jr.; Kunkel, L. M.: The protein product of the Duchenne muscular dystrophy locus. Cell 51: 919-928, 1987.
[0024000]14588.Hoffman, E. P.; Knudson, C. M.; Campbell, K. P.; Kunkel, L. M. : Subcellular fractionation of dystrophin to the triads of skeletal muscle. Nature 330: 754-758, 1987.
[0024001]14589.Hoffman, E. P.; Monaco, A. P.; Feener, C. C.; Kunkel, L. M.: Conservation of the Duchenne muscular dystrophy gene in mice and humans. Science 238: 347-350, 1987.
[0024002]14590.Hoop, R. C.; Russo, L. S.; Riconda, D. L.; Schwartz, L. S.; Hoffman, E. P.: Restoration of half the normal dystrophin sequence in a double-deletion Duchenne muscular dystrophy family. Am. J. Med. Genet. 49: 323-327, 1994.
[0024003]14591.Hoffman, E. P.; Fischbeck, K. H.; Brown, R. H.; Johnson, M.; Medori, R.; Loike, J. D.; Harris, J. B.; Waterston, R.; Brooke, M.; Specht, L.; Kupsky, W.; Chamberlain, J.; Caskey, C. T.; Shapiro, F.; Kunkel, L. M.: Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy. New Eng. J. Med. 318: 1363-1368, 1988.
[0024004]14592.Howard, P. L.; Dally, G. Y.; Wong, M. H.; Ho, A.; Weleber, R. G.; Pillers, D.-A. M.; Ray, P. N.: Localization of dystrophin isoform Dp71 to the inner limiting membrane of the retina suggests a unique functional contribution of Dp71 in the retina. Hum. Molec. Genet. 7: 1385-1391, 1998.
[0024005]14593.Hu, X.; Burghes, A. H. M.; Bulman, D. E.; Ray, P. N.; Worton, R. G.: Evidence for mutation by unequal sister chromatid exchange in the Duchenne muscular dystrophy gene. Am. J. Hum. Genet. 44: 855-863, 1989.
[0024006]14594.Alon, U.; Chan, J. C. M.: Hydrochlorothiazide-amiloride in the treatment of congenital nephrogenic diabetes insipidus. Am. J. Nephrol. 5: 9-13, 1985.
[0024007]14595.Andreoli, T. E.; Schafer, J. A.: Nephrogenic diabetes insipidus.In: Stanbury, J. B.; Wyngaarden, J. B.; Fredrickson, D. S.: Metabolic Basis of Inherited Disease. New York: McGraw-Hill (pub.) (4th ed.): 1978. Pp. 1634-1659.
[0024008]14596.Barak, L. S.; Oakley, R. H.; Laporte, S. A.; Caron, M. G.: Constitutive arrestinmediated desensitization of a human vasopressin receptor mutant associated with nephrogenic diabetes insipidus. Proc. Nat. Acad. Sci. 98: 93-98, 2001.
[0024009]14597.Bichet, D. G.: Personal Communication. Montreal, Quebec, Canada 5/1/1994.
[0024010]14598.Bichet, D. G.; Arthus, M.-F.; Lonergan, M.; Hendy, G. N.; Paradis, A. J.; Fujiwara, T. M.; Morgan, K.; Gregory, M. C.; Rosenthal, W.; Didwania, A.; Antaramian, A.; Birnbaumer, M.: Xlinked nephrogenic diabetes insipidus mutations in North America and the Hopewell hypothesis. J. Clin. Invest. 92: 1262-1268, 1993.
[0024011]14599.Bichet, D. G.; Razi, M.; Arthus, M.-F.; Lonergan, M.; Tittley, P.; Smiley, R. K.; Rock, G.; Hirsch, D. J.: Epinephrine and dDAVP administration in patients with congenital nephrogenic diabetes insipidus: evidence for a pre-cyclic AMP V(2) receptor defective mechanism. Kidney Int. 36: 859-866, 1989.
[0024012]14600.Bichet, D. G.; Razi, M.; Lonergan, M.; Arthus, M.-F.; Papukna, V.; Kortas, C.; Barjon, J.-N.: Hemodynamic and coagulation responses to 1-desamino(8-D-arginine) vasopressin in patients with congenital nephrogenic diabetes insipidus. New Eng. J. Med. 318: 881-887, 1988.
[0024013]14601.Birnbaumer, M.: Vasopressin receptors. TEM 11: 406-410, 2000.
[0024014]14602.Birnbaumer, M.; Seibold, A.; Gilbert, S.; Ishido, M.; Barberis, C.; Antaramian, A.; Brabet, P.; Rosenthal, W.: Molecular cloning of the receptor for human antidiuretic hormone. Nature 357: 333-335, 1992.
[0024015]14603.Gabig, T. G.; Lefker, B. A.: Deficient flavoprotein component of the NADPHdependent superoxide-generating oxidase in the neutrophils from three male patients with chronic granulomatous disease. J. Clin. Invest. 73: 701-705, 1984.
[0024016]14604.Heyworth, P. G.; Curnutte, J. T.; Rae, J.; Noack, D.; Cross, A. R.: Hematologically important mutations: X-linked chronic granulomatous disease--an update. Blood Cells Molec. Dis. 23: 443-450, 1997.
[0024017]14605.Ho, C. M. L.; Vowels, M. R.; Lockwood, L.; Ziegler, J. B.: Successful bone marrow transplantation in a child with X-linked chronic granulomatous disease. Bone Marrow Transplant. 18: 213-215, 1996.
[0024018]14606.Hohn, D. C.; Lehrer, R. I.: Identification of the defect in X-linked chronic granulomatous disease. (Abstract) Clin. Res. 22: 394A only, 1974.
[0024019]14607.Holmes, B.; Page, A. R.; Good, R. A.: Studies of the metabolic activity of leukocytes from patients with a genetic abnormality of phagocytic function. J. Clin. Invest. 46: 1422-1432, 1967.
[0024020]14608.Horn, D. C.; Lehrer, R. I.: NADPH oxidase deficiency in X-linked chronic granulomatous disease. J. Clin. Invest. 55: 707-713, 1975.
[0024021]14609.Horwitz, M. E.; Barrett, A. J.; Brown, M. R.; Carter, C. S.; Childs, R.; Gallin, J. I.; Holland, S. M.; Linton, G. F.; Miller, J. A.; Leitman, S. F.; Read, E. J.; Malech, H. L.: Treatment of chronic granulomatous disease with nonmyeloablative conditioning and a T-cell-depleted hematopoietic allograft. New Eng. J. Med. 344: 881-888, 2001.
[0024022]14610.Hui, Y. F.; Chan, S. Y.; Lau, Y. L.: Identification of mutations in seven Chinese patients with X-linked chronic granulomatous disease. Blood 88: 4021-4028, 1996.
[0024023]14611.Ishibashi, F.; Mizukami, T.; Kanegasaki, S.; Motoda, L.; Kakinuma, R.; Endo, F.; Nunoi, H.: Improved superoxide-generating ability by interferon-gamma due to splicing pattern change of transcripts in neutrophils from patients with a splice site mutation in CYBB gene. Blood 98: 436-441, 2001.
[0024024]14612.Ishibashi, F.; Nunoi, H.; Endo, F.; Matsuda, I.; Kanegasaki, S. : Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency. Hum. Genet. 106: 473-481, 2000.
[0024025]14613.Ito, K.; Mukumoto, Y.; Konishi, H.; Sakura, N.; Usui, T.: Kell phenotypes in 15 Japanese patients with chronic granulomatous disease. Vox Sang. 37: 39-40, 1979.
[0024026]14614.Johnston, R. B., Jr.: Defects of neutrophil function. (Editorial) New Eng. J. Med. 307: 434-436, 1982.
[0024027]14615.Johnston, R. B., Jr.; Keele, B. B., Jr.; Misra, H. P.; Lehmeyer, J. E.; Webb, L. S.; Baehner, R. L.; Rajagopalan, K. V.: The role of superoxide anion generation in phagocytic bactericidal activity: studies with normal and chronic granulomatous disease leukocytes. J. Clin. Invest. 55: 1357-1372, 1975.
[0024028]14616.Klebanoff, S. J.: Personal Communication. Seattle, Wash. 1/29/1982.
[0024029]14617.Klebanoff, S. J.; Clark, R. A.: The Neutrophil: Function and Clinical Disorders. Amsterdam: North Holland (pub.) 1978.
[0024030]14618.Kontras, S. B.; Bodenbender, J. G.; McClave, C. R.; Smith, J. P.: Interstitial cystitis in chronic granulomatous disease. J. Urol. 105: 575-578, 1971.
[0024031]14619.Kragballe, K.; Borregaard, N.; Brandrup, F.; Koch, C.; Johansen, K. S.: Relation of monocyte and neutrophil oxidative metabolism to skin and oral lesions in carriers of chronic granulomatous disease. Clin. Exp. Immun. 43: 390-398, 1981.
[0024032]14620.Kunkel, L. M.; Monaco, A. P.; Middlesworth, W.; Ochs, H. D.; Latt, S. A.: Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion. Proc. Nat. Acad. Sci. 82: 4778-4782, 1985.
[0024033]14621.Leusen, J. H. W.; de Boer, M.; Bolscher, B. G. J. M.; Hilarius, P. M.; Weening, R. S.; Ochs, H. D.; Roos, D.; Verhoeven, A. J.: A point mutation in gp91-phox of cytochrome b(558) of the human NADPH oxidase leading to defective translocation of the cytosolic proteins p47-phox and p67-phox. J. Clin. Invest. 93: 2120-2126, 1994.
[0024034]14622.Lew, P. D.; Southwick, F. S.; Stossel, T. P.; Whitin, J. C.; Simons, E.; Cohen, H. J.: A variant of chronic granulomatous disease: deficient oxidative metabolism due to a low-affinity NADPH oxidase. New Eng. J. Med. 305: 1329-1333, 1981.
[0024035]14623.Lischner, H. W.; Martyn, L. J.: Chorioretinal lesions, sea-blue histiocytes and other manifestations in familial chronic granulomatous disease. Birth Defects Orig. Art. Ser. XI(1): 73-76, 1975.
[0024036]14624.MacFarlane, P. S.; Speirs, A. L.; Sommerville, R. G.: Fatal granulomatous disease of childhood and benign lymphocytic infiltration of the skin (congenital dysphagocytosis). Lancet I: 408-410, 1967.
[0024037]14625.Macher, A. M.; Casale, T. B.; Fauci, A. S.: Chronic granulomatous disease of childhood and Chromobacterium violaceum infections in the southeastern United States. Ann. Intern. Med. 97: 51-55, 1982.
[0024038]14626.Marsh, W. L.; Oyen, R.; Nichols, M. E.; Allen, F. H., Jr.: Chronic granulomatous disease and Kell blood groups. Brit. J. Haemat. 29: 247-262, 1975.
[0024039]14627.Marsh, W. L.; Uretsky, S. C.; Douglas, S. D.: Antigens of the Kell blood group system on neutrophils and monocytes: their relation to chronic granulomatous disease. J. Pediat. 87: 1117-1120, 1975.
[0024040]14628.Matthay, K. K.; Golbus, M. S.; Wara, D. W.; Mentzer, W. C.: Prenatal diagnosis of chronic granulomatous disease. Am. J. Med. Genet. 17: 731-739, 1984.
[0024041]14629.McPhail, L. C.; DeChatelet, L. R.; Shirley, P. S.; Wilfert, C.; Johnston, R. B., Jr.; McCall, C. E.: Deficiency of NADPH oxidase activity in chronic granulomatous disease. J. Pediat. 90: 213-217, 1977.
[0024042]14630.Meischl, C.; de Boer, M.; Ahlin, A.; Roos, D.: A new exon created by intronic insertion of a rearranged LINE-1 element as the cause of chronic granulomatous disease. Europ. J. Hum. Genet. 8: 697-703, 2000.
[0024043]14631.Hameister, H.; Wolff, G.; Laurietzen, C. H.; Lehmann, W. O.; Hauser, A.; Ropers, H. H.: Clinical and biochemical investigations on patients with partial deficiency of placental steroid sulfatase. Hum. Genet. 46: 199-207, 1979.
[0024044]14632.Happle, R.: X-linked dominant ichthyosis. Clin. Genet. 15: 239-240, 1979.
[0024045]14633.Harris, H.: A pedigree of sex-linked ichthyosis vulgaris. Ann. Eugen. 14: 9, 1947.
[0024046]14634.Hernandez-Martin, A.; Gonzalez-Sarmiento, R.; De Unamuno, P.: X-linked ichthyosis: an update. Brit. J. Derm. 141: 617-627, 1999.
[0024047]14635.Jay, B.; Blach, R. K.; Wells, R. S.: Ocular manifestations of ichthyosis. Brit. J. Ophthal. 52: 217-226, 1968.
[0024048]14636.Jobsis, A. C.; De Groot, W. P.; Meijer, A. E. F. H.; van der Loos, C. M.: A new method for the determination of steroid sulphatase activity in leukocytes in X-linked recessive ichthyosis. Brit. J. Derm. 108: 567-572, 1983.
[0024049]14637.Jobsis, A. C.; De Groot, W. P.; Tigges, A. J.; De Bruijn, H. W.; Rijken, Y.; Meijer, A. E. F. H.; Marinkovic-Ilsen, A.: X-linked ichthyosis and X-linked placental sulfatase deficiency: a disease entity. Histochemical observations. Am. J. Path. 99: 279-290, 1980.
[0024050]14638.Jobsis, A. C.; van Duuren, C. Y.; de Vries, G. P.; Koppe, J. G.; Rijken, Y.; van Kempen, G. M. J.; de Groot, W. P.: Trophoblast sulphatase deficiency associated with X-chromosomal ichthyosis. (Abstract) Nederl. T. Geneesk. 120: 1980, 1976.
[0024051]14639.Kawano, J.; Kotani, T.; Ohtaki, S.; Mimamino, N.; Matsuo, H.; Oinuma, T.; Aikawa, E.: Characterization of rat and human steroid sulfatases. Biochim. Biophys. Acta 997: 199-205, 1989.
[0024052]14640.Keitges, E.; Gartler, S. M.: Dosage of the Sts gene in the mouse. Am. J. Hum. Genet. 39: 470-476, 1986.
[0024053]14641.Keitges, E.; Rivest, M.; Siniscalco, M.; Gartler, S. M.: X-linkage of steroid sulphatase in the mouse is evidence for a functional Y-linked allele. Nature 315: 226-227, 1985.
[0024054]14642.Kerr, C. B.; Wells, R. S.: Sex-linked ichthyosis. Ann. Hum. Genet. 29: 33-50, 1965.
[0024055]14643.Kerr, C. B.; Wells, R. S.; Sanger, R.: X-linked ichthyosis and the Xg groups. Lancet II: 1369-1370, 1964.
[0024056]14644.Kipling, D.; Salido, E. C.; Shapiro, L. J.; Cooke, H. J.: High frequency de novo alterations in the long-range genomic structure of the mouse pseudoautosomal region. Nature Genet. 13: 78-82, 1996.
[0024057]14645.Koppe, J. G.; Marinkovic-Ilsen, A.; Rijken, Y.; De Groot, W. P.; Jobsis, A. C.: Xlinked ichthyosis: a sulphatase deficiency. Arch. Dis. Child. 53: 803-806, 1978.
[0024058]14646.Koppe, J. G.; Rijken, Y.; Jobsis, A. C.; Marinkovic-Ilsen, A. : X-linked ichthyosis, a sulfatase deficiency. (Abstract) Vth Int. Conf. on Birth Defects, Montreal , 8/1977.
[0024059]14647.Kubilus, J.; Tarascio, A. J.; Baden, H. P.: Steroid-sulfatase deficiency in sex-linked ichthyosis. Am. J. Hum. Genet. 31: 50-53, 1979.
[0024060]14648.Laval, S. H.; Boyd, Y.: Partial inversion of gene order within a homologous segment on the X chromosome. Mammalian Genome 4: 119-123, 1993.
[0024061]14649.Li, X. M.; Salido, E. C.; Gong, Y.; Kitada, K.; Serikawa, T.; Yen, P. H.; Shapiro, L. J.: Cloning of the rat steroid sulfatase gene (Sts), a non-pseudoautosomal X-linked gene that undergoes X inactivation. Mammalian Genome 7: 420-424, 1996.
[0024062]14650.Lykkesfeldt, G.; Bennett, P.; Lykkesfeldt, A. E.; Micic, S.; Moller, S.; Svenstrup, B.: Abnormal androgen and oestrogen metabolism in men with steroid sulphatase deficiency and recessive Xlinked ichthyosis. Clin. Endocr. 23: 385-393, 1985.
[0024063]14651.Lykkesfeldt, G.; Hoyer, H.: Topical cholesterol treatment of recessive X-linked ichthyosis. Lancet II: 1337-1338, 1983.
[0024064]14652.Lykkesfeldt, G.; Hoyer, H.; Ibsen, H. H.; Brandrup, F.: Steroid sulphatase deficiency disease. Clin. Genet. 28: 231-237, 1985.
[0024065]14653.Lykkesfeldt, G.; Hoyer, H.; Lykkesfeldt, A. E.; Skakkebaek, N. E.: Steroid sulphatase deficiency associated with testis cancer. Lancet II: 1456, 1983.
[0024066]14654.Lykkesfeldt, G.; Lykkesfeldt, A. E.; Skakkebaek, N. E.: Steroid sulphatase in man: a non inactivated X-locus with partial gene dosage compensation. Hum. Genet. 65: 355-357, 1984.
[0024067]14655.Macsai, M. S.; Doshi, H.: Clinical pathologic correlation of superficial corneal opacities in X-linked ichthyosis. Am. J. Ophthal. 118: 477-484, 1994.
[0024068]14656.Marinkovic-Ilsen, A.; Koppe, J. G.; Jobsis, A. C.; De Groot, W. P.: Enzymatic basis of typical X-linked ichthyosis. (Letter) Lancet II: 1097, 1978.
[0024069]14657.Metaxotou, C.; Ikkos, D.; Panagiotopoulou, P.; Alevizaki, M.; Mavrou, A.; Tsenghi, C.; Matsaniotis, N.: A familial X/Y translocation in a boy with ichthyosis, hypogonadism and mental retardation. Clin. Genet. 24: 380-383, 1983.
[0024070]14658.Meyer, J. C.; Weiss, H.; Grundemann, H. P.; Wurseh, T. G.; Schnyder, U. W.: Deficiency of arylsulfatase C in cultured skin fibroblasts of X-linked ichthyosis. Hum. Genet. 53: 115-116, 1979.
[0024071]14659.Migeon, B. R.; Shapiro, L. J.; Norum, R. A.; Mohandas, T.; Axelman, J.; Dabora, R. L.: Differential expression of steroid sulphatase locus on active and inactive human X chromosome. Nature 299: 838-840, 1982.
[0024072]14660.Mohandas, T.; Shapiro, L. J.; Sparkes, R. S.; Sparkes, M. C.: Regional assignment of the steroid sulfatase--X-linked ichthyosis locus: implications for a non-inactivated region on the short arm of the human X-chromosome. Proc. Nat. Acad. Sci. 76: 5779-5783, 1979.
[0024073]14661.Mohandas, T.; Sparkes, R. S.; Hellkuhl, B.; Grzeschik, K. H.; Shapiro, L. J.: Expression of an X-linked gene from an inactive human X chromosome in mouse-human hybrid cells: further evidence for the noninactivation of the steroid sulfatase locus in man. Proc. Nat. Acad. Sci. 77: 6759-6763, 1980.
[0024074]14662.Mohandas, T. K.; Stern, H. J.; Meeker, C. A.; Passage, M. B.; Muller, U.; Page, D. C.; Yen, P. H.; Shapiro, L. J.: Steroid sulfatase gene in XX males. Am. J. Hum. Genet. 46: 369-376, 1990.
[0024075]14663.Monroe, D. G.; Chang, P. L.: Tissue-specific expression of human arylsulfatase-C isozymes and steroid sulfatase. Am. J. Hum. Genet. 40: 102-114, 1987.
[0024076]14664.Allingham-Hawkins, D. J.; Ray, P. N.: FRAXE expansion is not a common etiological factor among developmentally delayed males. Am. J. Hum. Genet. 57: 72-76, 1995.
[0024077]14665.Barnicoat, A. J.; Wang, Q.; Turk, J.; Green, E.; Mathew, C. G.; Flynn, G.; Buckle, V.; Hirst, M.; Davies, K.; Bobrow, M.: Clinical, cytogenetic, and molecular analysis of three families with FRAXE. J. Med. Genet. 34: 13-17, 1997.
[0024078]14666.Brown, W. T.: The FRAXE syndrome: is it time for routine screening? (Editorial) Am. J. Hum. Genet. 58: 903-905, 1996.
[0024079]14667.Chakrabarti, L.; Knight, S. J. L.; Flannery, A. V.; Davies, K. E.: A candidate gene for mild mental handicap at the FRAXE fragile site. Hum. Molec. Genet. 5: 275-282, 1996.
[0024080]14668.Ennis, S.; Murray, A.; Morton, N. E.: Haplotypic determinants of instability in the FRAX region: concatenated mutation or founder effect? Hum. Mutat. 18: 61-69, 2001.
[0024081]14669.Gecz, J.; Bielby, S.; Sutherland, G. R.; Mulley, J. C.: Gene structure and subcellular localization of FMR2, a member of a new family of putative transcription activators. Genomics 44: 201-213, 1997.
[0024082]14670.Gecz, J.; Gedeon, A. K.; Sutherland, G. R.; Mulley, J. C.: Identification of the gene FMR2, associated with FRAXE mental retardation. Nature Genet. 13: 105-108, 1996.
[0024083]14671.Gecz, J.; Oostra, B. A.; Hockey, A.; Carbonell, P.; Turner, G.; Haan, E. A.; Sutherland, G. R.; Mulley, J. C.: FMR2 expression in families with FRAXE mental retardation. Hum. Molec. Genet. 6: 435-441, 1997.
[0024084]14672.Gu, Y.; Shen, Y.; Gibbs, R. A.; Nelson, D. L.: Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island. Nature Genet. 13: 109-113, 1996.
[0024085]14673.Yoshima, T.; Yura, T.; Yanagi, H.: Novel testis-specific protein that interacts with heat shock factor 2. Gene 214: 139-146, 1998.
[0024086]14674.Kools, P.; Vanhalst, K.; Wan den Eynde, E.; van Roy, F.: The human cadherin-10 gene: complete coding sequence, predominant expression in the brain and mapping on chromosome 5p13-13. FEBS Lett. 452: 328-334, 1999.
[0024087]14675.Leder, S.; Weber, Y.; Altafaj, X.; Estivill, X.; Joost, H.-G.; Becker, W.: Cloning and characterization of DYRK1B, a novel member of the DYRK family of protein kinases. Biochem. Biophys. Res. Commun. 254: 474-479, 1999.
[0024088]14676.Lee, K.; Deng, X.; Friedman, E.: Mirk protein kinase is a mitogen-activated protein kinase substrate that mediates survival of colon cancer cells. Cancer Res. 60: 3631-3637, 2000.
[0024089]14677.Coyle, A. J.; Lehar, S.; Lloyd, C.; Tian, J.; Delaney, T.; Manning, S.; Nguyen, T.; Burwell, T.; Schneider, H.; Gonzalo, J. A.; Gosselin, M.; Owen, L. R.; Rudd, C. E.; Gutierriez-Ramos, J. C.: The CD28-related molecule ICOS is required for effective T cell-dependent immune responses. Immunity 13: 95-105, 2000.
[0024090]14678.Dong, C.; Juedes, A. E.; Temann, U. A.; Shresta, S.; Allison, J. P.; Ruddle, N. H.; Flavell, R. A.: ICOS co-stimulatory receptor is essential for T-cell activation and function. Nature 409: 97-101, 2001.
[0024091]14679.Haimila, K. E.; Partanen, J. A.; Holopainen, P. M.: Genetic polymorphism of the human ICOS gene. Immunogenetics 53: 1028-1032, 2002.
[0024092]14680.Hutloff, A.; Dittrich, A. M.; Beier, K. C.; Eljaschewitsch, B.; Kraft, R.; Anagnostopoulos, I.; Kroczek, R. A.: ICOS is an inducible T-cell co-stimulator structurally and functionally related to CD28. Nature 397: 263-266, 1999.
[0024093]14681.McAdam, A. J.; Greenwald, R. J.; Levin, M. A.; Chernova, T.; Malenkovich, N.; Ling, V.; Freeman, G. J.; Sharpe, A. H.: ICOS is critical for CD40-mediated antibody class switching. Nature 409: 102-105, 2001.
[0024094]14682.Schillace, R. V.; Andrews, S. F.; Liberty, G. A.; Davey, M. P.; Carr, D. W.: Identification and characterization of myeloid translocation gene 16b as a novel A kinase anchoring protein in T lymphocytes. J. Immun. 168: 1590-1599, 2002.
[0024095]14683.Pack, S. D.; Pak, E.; Tanigami, A.; Ledbetter, D. H.; Fukuda, M. N.: Assignment of the bystin gene BYSL to human chromosome band 6p21.1 by in situ hybridization. Cytogenet. Cell Genet. 83: 76-77, 1998.
[0024096]14684.Leegwater, P. A. J.; Vermeulen, G.; Konst, A. A. M.; Naidu, S.; Mulders, J.; Visser, A.; Kersbergen, P.; Mobach, D.; Fonds, D.; van Berkel, C. G. M.; Lemmers, R. J. L. F.; Frants, R. R.; Oudejans, C. B. M.; Schutgens, R. B. H.; Pronk, J. C.; van der Knaap, M. S.: Subunits of the translation initiation factor eiF2B are mutant in leukoencephalopathy with vanishing white matter. Nature Genet. 29: 383-388, 2001.
[0024097]14685.Medina, M.; Marinescu, R. C.; Overhauser, J.; Kosik, K. S.: Hemizygosity of deltacatenin (CTNND2) is associated with severe mental retardation in cri-du-chat syndrome. Genomics 63: 157-164, 2000.
[0024098]14686.Paffenholz, R.; Franke, W. W.: Identification and localization of a neurally expressed member of the plakoglobin/armadillo multigene family. Differentiation 61: 293-304, 1997.
[0024099]14687.Zhou, J..; Liyanage, U.; Medina, M.; Ho, C.; Simmons, A. D.; Lovett. M.; Kosik, K. S.: Presenilin 1 interaction in the brain with a novel member of the armadillo family. Neuroreport 8: 2085-2090, 1997.
[0024100]14688.Burger, J.; Fonknechten, N.; Hoeltzenbein, M.; Neumann, L.; Bratanoff, E.; Hazan, J.; Reis, A.: Hereditary spastic paraplegia caused by mutations in the SPG4 gene. Europ. J. Hum. Genet. 8: 771-776, 2000.
[0024101]14689.Burger, J.; Metzke, H.; Paternotte, C.; Schilling, F.; Hazan, J.; Reis, A.: Autosomal dominant spastic paraplegia with anticipation maps to a 4-cM interval on chromosome 2p21-p24 in a large German family. Hum. Genet. 98: 371-375, 1996.
[0024102]14690.Errico, A.; Ballabio, A.; Rugarli, E. I.: Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics. Hum. Molec. Genet. 11: 153-163, 2002.
[0024103]14691.Lindsey, J. C.; Lusher, M. E.; McDermott, C. J.; White, K. D.; Reid, E.; Rubinsztein, D. C.; Bashir, R.; Hazan, J.; Shaw, P. J.; Bushby, K. M. D.: Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraplegia. J. Med. Genet. 37: 759-765, 2000.
[0024104]14692.Takahashi, N.; Tuiki, H.; Saya, H.; Kaibuchi, K.: Localization of the gene coding for ROCK II/Rho kinase on human chromosome 2p24. Genomics 55: 235-237, 1999.
[0024105]14693.Gruber, A. D.; Pauli, B. U.: Clustering of the human CLCA gene family on the short arm of chromosome 1 (1p22-31). Genome 42: 1030-1032, 1999.
[0024106]14694.Leegwater, P. A. J.; Yuan, B. Q.; van der Steen, J.; Mulders, J.; Konst, A. A. M.; Ilja Boor, P. K.; Mejaski-Bosnjak, V.; van der Maarel, S. M.; Frants, R. R.; Oudejans, C. B. M.; Schutgens, R. B. H.; Pronk, J. C.; van der Knapp, M. S.: Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts. Am. J. Hum. Genet. 68: 831-838, 2001.
[0024107]14695.Kedra, D.; Pan, H.-Q.; Seroussi, E.; Fransson, I.; Guilbaud, C.; Collins, J. E.; Dunham, I.; Blennow, E.; Roe, B. A.; Piehl, F.; Dumanski, J. P.: Characterization of the human synaptogyrin gene family. Hum. Genet. 103: 131-141, 1998.
[0024108]14696.Hazan, J.; Davoine, C. S.; Mavel, D.; Fonknechten, N.; Paternotte, C.; Fizames, C.; Cruaud, C.; Samson, D.; Muselet, D.; Vega-Czarny, N.; Brice, A.; Gyapay, G.; Heilig, R.; Fontaine, B.; Weissenbach, J.: A fine integrated map of the SPG4 locus excludes an expanded CAG repeat in chromosome 2p-linked autosomal dominant spastic paraplegia. Genomics 60: 309-319, 1999.
[0024109]14697.Hazan, J.; Fonknechten, N.; Mavel, D.; Paternotte, C.; Samson, D.; Artiguenave, F.; Davoine, C.-S.; Cruaud, C.; Durr, A.; Wincker, P.; Brottier, P.; Cattolico, L.; Barbe, V.; Burgunder, J.-M.; Prud'homme, J.-F.; Brice, A.; Fontaine, B.; Heilig, R.; Weissenbach, J.: Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nature Genet. 23: 296-303, 1999.
[0024110]14698.Bedford, F. K.; Ashworth, A.; Enver, T.; Wiedemann, L. M.: HEX: a novel homeobox gene expressed during haematopoiesis and conserved between mouse and human. Nucleic Acids Res. 21: 1245-1249, 1993.
[0024111]14699.Crompton, M. R.; Bartlett, T. J.; MacGregor, A. D.; Manfioletti, G.; Buratti, E.; Giancotti, V.; Goodwin, G. H.: Identification of a novel vertebrate homeobox gene expressed in haematopoietic cells. Nucleic Acids Res. 20: 5661-5667, 1992.
[0024112]14700.D'Elia, A. V.; Tell, G.; Russo, D.; Arturi, F.; Puglisi, F.; Manfioletti, G.; Gattei, V.; Mack, D. L.; Cataldi, P.; Filetti, S.; Di Loreto, C.; Damante, G.: Expression and localization of the homeodomain-containing protein HEX in human thyroid tumors. J. Clin. Endocr. Metab. 87: 1376-1383, 2002.
[0024113]14701.Hromas, R.; Radich, J.; Collins, S.: PCR cloning of an orphan homeobox gene (PRH) preferentially expressed in myeloid and liver cells. Biochem. Biophys. Res. Commun. 195: 976-983, 1993.
[0024114]14702.Morgutti, M.; Demori, E.; Pecile, V.; Amoroso, A.; Rustighi, A.; Manfioletti, G.: Genomic organization and chromosome mapping of the human homeobox gene HHEX. Cytogenet. Cell Genet. 94: 30-32, 2001.
[0024115]14703.Tanaka, T.; Inazu, T.; Yamada, K.; Myint, Z.; Keng, V. W; Inoue, Y.; Taniguchi, N.; Noguchi, T.: cDNA cloning and expression of rat homeobox gene, Hex, and functional characterization of the protein. Biochem. J. 339: 111-117, 1999.
[0024116]14704.Miles, M. F.; Barhite, S.; Sganga, M.; Elliott, M.: Phosducin-like protein: an ethanolresponsive potential modulator of guanine nucleotide-binding protein function. Proc. Nat. Acad. Sci. 90: 10831-10835, 1993.
[0024117]14705.Thibault, C.; Wang, J. F.; Charnas, R.; Mirel, D.; Barhite, S.; Miles, M. F.: Cloning and characterization of the rat and human phosducin-like protein genes: structure, expression and chromosomal localization. Biochim. Biophys. Acta 1444: 346-354, 1999.
[0024118]14706.Her, C.; Wood, T. C.; Eichler, E. E.; Mohrenweiser, H. W.; Ramagli, L. S.; Siciliano, M. J.; Weinshilboum, R. M.: Human hydroxysteroid sulfotransferase SULT2B1: two enzymes encoded by a single chromosome 19 gene. Genomics 53: 284-295, 1998.
[0024119]14707.Pope, R. K.; Pestonjamasp, K. N.; Smith, K. P.; Wulfkuhle, J. D.; Strassel, C. P.; Lawrence, J. B.; Luna, E. J.: Cloning, characterization, and chromosomal localization of human supervillin (SVIL). Genomics 52: 342-351, 1998.
[0024120]14708.Ting, H.-J.; Yeh, S.; Nishimura, K.; Chang, C.: Supervillin associates with androgen receptor and modulates its transcriptional activity. Proc. Nat. Acad. Sci. 99: 661-666, 2002.
[0024121]14709.Bianchi, V.; Robles, R.; Alberio, L.; Furlan, M.; Lammle, B.: Von Willebrand factorcleaving protease (ADAMTS13) in thrombocytopenic disorders: a severely deficient activity is specific for thrombotic thrombocytopenic purpura. Blood 100: 710-713, 2002.
[0024122]14710.Fujikawa, K.; Suzuki, H.; McMullen, B.; Chung, D.: Purification of human von Willebrand factor-cleaving protease and its identification as a new member of the metalloproteinase family. Blood 98: 1662-1666, 2001.
[0024123]14711.Furlan, M.; Robles, R.; Solenthaler, M.; Wassmer, M.; Sandoz, Pl; Lammle, B.: Deficient activity of von Willebrand factor-cleaving protease in chronic relapsing thrombotic thrombocytopenic purpura. Blood 89: 3097-3103, 1997.
[0024124]14712.Gerritsen, H. E.; Robles, R.; Lammle, B.; Furlan, M.: Partial amino acid sequence of purified von Willebrand factor-cleaving protease. Blood 98: 1654-1661, 2001.
[0024125]14713.Kokame, K.; Matsumoto, M.; Soejima, K.; Yagi, H.; Ishizashi, H.; Funato, M.; Tamai, H.; Konno, M.; Kamide, K.; Kawano, Y.; Miyata, T.; Fujimura, Y.: Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity. Proc. Nat. Acad. Sci. 99: 11902-11907, 2002.
[0024126]14714.Re, F.; Strominger, J. L.: Toll-like receptor 2 (TLR2) and TLR4 differentially activate human dendritic cells. J. Biol. Chem. 276: 37692-37699, 2001.
[0024127]14715.Wolfs, T. G. A. M.; Buurman, W. A.; van Schadewijk, A.; de Vries, B.; Daemen, M. A. R. C.; Hiemstra, P. S.; van't Veer, C.: In vivo expression of Toll-like receptor 2 and 4 by renal epithelial cells: IFN-gamma and TNF-alpha mediated up-regulation during inflammation. J. Immun. 168: 1286-1293, 2002.
[0024128]14716.Arbour, N. C.; Lorenz, E.; Schutte, B. C.; Zabner, J.; Klein, J. N.; Jones, M.; Frees, K.; Watt, J. L.; Schwartz, D. A.: TLR4 mutations are associated with endotoxin hyporesponsiveness in humans. Nature Genet. 25: 187-191, 2000.
[0024129]14717.Frantz, S.; Kobzik, L.; Kim, Y.-D.; Fukazawa, R.; Medzhitov, R.; Lee, R. T.; Kelly, R. A.: Toll4 (TLR4) expression in cardiac myocytes in normal and failing myocardium. J. Clin. Invest. 104: 271-280, 1999.
[0024130]14718.Kiechl, S.; Lorenz, E.; Reindl, M.; Wiedermann, C. J.; Oberhollenzer, F.; Bonora, E.; Willeit, J.; Schwartz, D. A.: Toll-like receptor 4 polymorphisms and atherogenesis. New Eng. J. Med. 347: 185-192, 2002.
[0024131]14719.Medzhitov, R.; Preston-Hurlburt, P.; Janeway, C. A., Jr.: A human homologue of the Drosophila Toll protein signals activation of adaptive immunity. Nature 388: 394-397, 1997.
[0024132]14720.Michalek, S. M.; Moore, R. N.; McGhee, J. R.; Rosenstreich, D. L.; Mergenhagen, S. E.: The primary role of lymphoreticular cells in the mediation of host responses to bacterial endotoxin. J. Infect. Dis. 141: 55-63, 1980.
[0024133]14721.Nagai, Y.; Akashi, S.; Nagafuku, M.; Ogata, M.; Iwakura, Y.; Akira, S.; Kitamura, T.; Kosugi, A.; Kimoto, M.; Miyake, K.: Essential role of MD-2 in LPS responsiveness and TLR4 distribution. Nature Immun. 3: 667-672, 2002.
[0024134]14722.Poltorak, A.; He, X.; Smirnova, I.; Liu, M.-Y.; Van Huffel, C.; Du, X.; Birdwell, D.; Alejos, E.; Silva, M.; Galanos, C.; Freudenberg, M.; Ricciardi-Castagnoli, P.; Layton, B.; Beutler, B.: Defective LPS signaling in C3H/HeJ and C57BL/10ScCr mice: mutations in Tlr4 gene. Science 282: 2085-2088, 1998.
[0024135]14723.Rehli, M.; Poltorak, A.; Schwarzfischer, L.; Krause, S. W.; Andreesen, R.; Beutler, B.: PU.1 and interferon consensus sequence-binding protein regulate the myeloid expression of the human Toll-like receptor 4 gene. J. Biol. Chem. 275: 9773-9781, 2000.
[0024136]14724.Advani, R. J.; Bae, H.-R.; Bock, J. B.; Chao, D. S.; Doung, Y.-C.; Prekeris, R.; Yoo, J.-S.; Scheller, R. H.: Seven novel mammalian SNARE proteins localize to distinct membrane compartments. J. Biol. Chem. 273: 10317-10324, 1998.
[0024137]14725.Bock, J. B.; Scheller, R. H.: A fusion of new ideas. Nature 387: 133-135, 1997.
[0024138]14726.Bui, T. D.; Wong, S. H.; Lu, L.; Hong, W.: Endobrevin maps to chromosome 2 in human and chromosome 6 in mouse. Genomics 54: 579-580, 1998.
[0024139]14727.Wong, S. H.; Zhang, T.; Xu, Y.; Subramaniam, V. N.; Griffiths, G.; Hong, W.: Endobrevin, a novel synaptobrevin/VAMP-like protein preferentially associated with the early endosome. Molec. Biol. Cell 9: 1549-1563, 1998.
[0024140]14728.Soilleux, E. J.; Barten, R.; Trowsdale, J.: Cutting edge: DC-SIGN; a related gene, DCSIGNR; and CD23 form a cluster on 19p13. J. Immun. 165: 2937-2942, 2000.
[0024141]14729.Matoskova, B.; Wong, W. T.; Nomura, N.; Robbins, K. C.; Di Fiore, P. P.: RN-tre specifically binds to the SH3 domain of eps8 with high affinity and confers growth advantage to NIH3T3 upon carboxy-terminal truncation. Oncogene 12: 2679-2688, 1996.
[0024142]14730.Matoskova, B.; Wong, W. T.; Seki, N.; Nagase, T.; Nomura, N.; Robbins, K. C.; Di Fiore, P. P.: RN-tre identifies a family of tre-related proteins displaying a novel potential protein binding domain. Oncogene 12: 2563-2571, 1996.
[0024143]14731.Lee, M. P.; Brandenburg, S.; Landes, G. M.; Adams, M.; Miller, G.; Feinberg, A. P.: Two novel genes in the center of the 11p15 imprinted domain escape genomic imprinting. Hum. Molec. Genet. 8: 683-690, 1999.
[0024144]14732.Nakamura, M.; Masuda, H.; Horii, J.; Kuma, K.; Yokoyama, N.; Ohba, T.; Nishitani, H.; Miyata, T.; Tanaka, M.; Nishimoto, T.: When overexpressed, a novel centrosomal protein, RanBPM, causes ectopic microtubule nucleation similar to gamma-tubulin. J. Cell Biol. 143: 1041-1052, 1998.
[0024145]14733.Nishitani, H.; Hirose, E.; Uchimura, Y.; Nakamura,; M.; Umeda, M.; Nishii, K.; Mori, N.; Nishimoto, T.: Full-sized RanBPM cDNA encodes a protein possessing a long stretch of proline and glutamine within the N-terminal region, comprising a large protein complex. Gene 272: 25-33, 2001.
[0024146]14734.Ohura, T.; Kobayashi, K.; Tazawa, Y.; Nishi, I.; Abukawa, D.; Sakamoto, O.; Iinuma, K.; Saheki, T.: Neonatal presentation of adult-onset type II citrullinemia. Hum. Genet. 108: 87-90, 2001.
[0024147]14735.Tazawa, Y.; Kobayashi, K.; Ohura, T.; Abukawa, D.; Nishinomiya, F.; Hosoda, Y.; Yamashita, M.; Nagata, I.; Kono, Y.; Yasuda, T.; Yamaguchi, N.; Saheki, T.: Infantile cholestatic jaundice associated with adult-onset type II citrullinemia. J. Pediat. 138: 735-740, 2001.
[0024148]14736.Tomomasa, T.; Kobayashi, K.; Kaneko, H.; Shimura, H.; Fukusato, T.; Tabata, M.; Inoue, Y.; Ohwada, S.; Kasahara, M.; Morishita, Y.; Kimura, M.; Saheki, T.; Morikawa, A.: Possible clinical and histologic manifestations of adult-onset type II citrullinemia in early infancy. J. Pediat. 138: 741-743, 2001.
[0024149]14737.Bellefroid, E. J.; Marine, J. C.; Ried, T.; Lecocq, P. J.; Riviere, M.; Amemiya, C.; Poncelet, D. A.; Coulie, P. G.; de Jong, P.; Szpirer, C.; Ward, D. C.; Martial, J. A.: Clustered organization of homologous KRAB zinc-finger genes with enhanced expression in human T lymphoid cells. EMBO J. 12: 1363-1374, 1993.
[0024150]14738.Bellefroid, E. J.; Poncelet, D. A.; Lecocq, P. J.; Revelant, O.; Martial, J. A.: The evolutionarily conserved Kruppel-associated box domain defines a subfamily of eukaryotic multifingered proteins. Proc. Nat. Acad. Sci. 88: 3608-3612, 1991.
[0024151]14739.Williams, A. J.; Khachigian, L. M.; Shows, T.; Collins, T.: Isolation and characterization of a novel zinc-finger protein with transcriptional repressor activity. J. Biol. Chem. 270: 22143-22152, 1995.
[0024152]14740.Grand, R. J. A.; Milner, A. E.; Mustoe, T.; Johnson, G. D.; Owen, D.; Grant, M. L.; Gregory, C. D.: A novel protein expressed in mammalian cells undergoing apoptosis. Exp. Cell Res. 218: 439-451, 1995.
[0024153]14741.Twist, C. J.; Beier, D. R.; Disteche, C. M.; Edelhoff, S.; Tedder, T. F.: The mouse Cd83 gene: structure, domain organization, and chromosome localization. Immunogenetics 48: 383-393, 1998.
[0024154]14742.Lee, S. B.; Rao, A. K.; Lee, K.-H.; Yang, X.; Bae, Y. S.; Rhee, S. G.: Decreased expression of phospholipase C-b2 isozyme in human platelets with impaired function. Blood 88: 1684-1691, 1996.
[0024155]14743.Mao, G. F.; Vaidyula, V. R.; Kunapuli, S. P.; Rao, A. K.: Lineage-specific defect in gene expression in human platelet phospholipase C-beta-2 deficiency. Blood 99: 905-911, 2002.
[0024156]14744.Park, D.; Jhon, D.-Y.; Kriz, R.; Knopf, J.; Rhee, S. G.: Cloning, sequencing, expression, and Gq-independent activation of phospholipase C-beta-2. J. Biol. Chem. 267: 16048-16055, 1992.
[0024157]14745.Park, S. H.; Ryu, S. H.; Suh, P. G.; Kim, H.: Assignment of human PLCB2 encoding PLC-beta-2 to human chromosome 15q15 by fluorescence in situ hybridization. Cytogenet. Cell Genet. 83: 48-49, 1998.
[0024158]14746.Rao, A. K.; Kowalska, M. A.; Disa, J.: Impaired cytoplasmic ionized calcium mobilization in inherited platelet secretion defects. Blood 74: 664-672, 1989.
[0024159]14747.Yang, X.; Sun, L.; Ghosh, S.; Rao, A. K.: Human platelet signaling defect characterized by impaired production of 1,4,5 inositol triphosphate and phosphatic acid, and diminished pleckstrin phosphorylation. Evidence for detective phospholipase C activation. Blood 88: 1676-1683, 1996.
[0024160]14748.Schweitzer, B.; Taylor, V.; Welcher, A. A.; McClelland, M.; Suter, U.: Neural membrane protein 35 (NMP35): a novel member of a gene family which is highly expressed in the adult nervous system. Molec. Cell. Neurosci. 11: 260-273, 1998.
[0024161]14749.Somia, N. V.; Schmitt, M. J.; Vetter, D. E.; Van Antwerp, D.; Heinemann, S. F.; Verma, I. M.: LFG: an anti-apoptotic gene that provides protection from Fas-mediated cell death. Proc. Nat. Acad. Sci. 96: 12667-12672, 1999.
[0024162]14750.Allen, M.; Chu, S.; Brill, S.; Stotler, C.; Buckler, A.: Restricted tissue expression pattern of a novel human rasGAP-related gene and its murine ortholog. Gene 218: 17-25, 1998.
[0024163]14751.Gillen, C. M.; Brill, S.; Payne, J. A.; Forbush, B., III: Molecular cloning and functional expression of the K-Cl cotransporter from rabbit, rat, and human: a new member of the cation-chloride cotransporter family. J. Biol. Chem. 271: 16237-16244, 1996.
[0024164]14752.Larsen, F.; Solheim, J.; Kristensen, T.; Kolsto, A. B.; Prydz, H.: A tight cluster of five unrelated human genes on chromosome 16q22.1. Hum. Molec. Genet. 2: 1589-1595, 1993.
[0024165]14753.Pellegrino, C. M.; Rybicki, A. C.; Musto, S.; Nagel, R. L.; Schwartz, R. S.: Molecular identification and expression of erythroid K:Cl cotransporter in human and mouse erythroleukemic cells. Blood Cells Molec. Dis. 24: 31-40, 1998.
[0024166]14754.Hammond, E. M.; Brunet, C. L.; Johnson, G. D.; Parkhill, J.; Milner, A. E.; Brady, G.; Gregory, C. D.; Grand, R. J. A.: Homology between a human apoptosis specific protein and the product of APG5, a gene involved in autophagy in yeast. FEBS Lett. 425: 391-395, 1998.
[0024167]14755.Schmeiser, K.; Armstrong, S.; Hammond, E. M.; Grand, R. J. A.: Assignment of the yeast APG5 human homologue APG5L to chromosome band 6q21 by fluorescence in situ hybridisation. Cytogenet. Cell Genet. 87: 213-214, 1999.
[0024168]14756.Nakayama, M.; Nakajima, D.; Nagase, T.; Nomura, N.; Seki, N.; Ohara, O.: Identification of high-molecular-weight proteins with multiple EGF-like motifs by motif-trap screening. Genomics 51: 27-34, 1998.
[0024169]14757.Wu, Q.; Maniatis, T.: Large exons encoding multiple ectodomains are a characteristic feature of protocadherin genes. Proc. Nat. Acad. Sci. 97: 3124-3129, 2000.
[0024170]14758.Girard, J.-P.; Baekkevold, E. S.; Feliu, J.; Brandtzaeg, P.; Amalric, F.: Molecular cloning and functional analysis of SUT-1, a sulfate transporter from human high endothelial venules. Proc. Nat. Acad. Sci. 96: 12772-12777, 1999.
[0024171]14759.Rubio, J. P.; Levy, E. R.; Dobson-Stone, C.; Monaco, A. P.: Genomic organization of the human G-alpha-14 and G-alpha-Q genes and mutation analysis in chorea-acanthocytosis (CHAC). Genomics 57: 84-93, 1999.
[0024172]14760.Paine-Saunders, S.; Viviano, B. L.; Saunders, S.: GPC6, a novel member of the glypican gene family, encodes a product structurally related to GPC4 and is colocalized with GPC5 on human chromosome 13. Genomics 57: 455-458, 1999.
[0024173]14761.Veugelers, M.; De Cat, B.; Ceulemans, H.; Bruystens, A. M.; Coomans, C.; Durr, J.; Vermeesch, J.; Marynen, P.; David, G.: Glypican-6, a new member of the glypican family of cell surface heparan sulfate proteoglycans. J. Biol. Chem. 274: 26968-26977, 1999.
[0024174]14762.Jacobs, S.; Schurmann, A.; Becker, W.; Bockers, T. M.; Copeland, N. G.; Jenkins, N. A.; Joost, H.-G.: The mouse ADP-ribosylation factor-like 4 gene: two separate promoters direct specific transcription in tissues and testicular germ cell. Biochem. J. 335: 259-265, 1998.
[0024175]14763.Oelkers, P.; Behari, A.; Cromley, D.; Billheimer, J. T.; Sturley, S. L.: Characterization of two human genes encoding acyl coenzyme A: cholesterol acyltransferase-related enzymes. J. Biol. Chem. 273: 26765-26771, 1998.
[0024176]14764.Bootcov, M. R.; Bauskin, A. R.; Valenzuela, S. M.; Moore, A. G.; Bansal, M.; He, X. Y.; Zhang, H. P.; Donnellan, M.; Mahler, S.; Pryor, K.; Walsh, B. J.; Nicholson, R. C.; Fairlie, W. D.; Por, S. B.; Robbins, J. M.; Breit, S. N.: MIC-1, a novel macrophage inhibitory cytokine, is a divergent member of the TGF-beta superfamily. Proc. Nat. Acad. Sci. 94: 11514-11519, 1997.
[0024177]14765.Bottner, M.; Laaff, M.; Schechinger, B.; Rappold, G.; Unsicker, K.; Suter-Crazzolara, C.: Characterization of the rat, mouse, and human genes of growth/differentiation factor-15/macrophage inhibiting cytokine-1 (GDF-15/MIC-1). Gene 237: 105-111, 1999.
[0024178]14766.Brown, D. A.; Breit, S. N.; Buring, J.; Fairlie, W. D.; Bauskin, A. R.; Liu, T.; Ridker, P. M.: Concentration in plasma of macrophage inhibitory cytokine-1 and risk of cardiovascular events in women: a nested case-control study. Lancet 359: 2159-2163, 2002.
[0024179]14767.Fairlie, W. D.; Russell, P. K.; Wu, W. M.; Moore, A. G.; Zhang, H.-P.; Brown, P. K.; Bauskin, A. R.; Breit, S. N.: Epitope mapping of the transforming growth factor-beta superfamily protein, macrophage inhibitory cytokine-1 (MIC-1): identification of at least five distinct epitope specificities. Biochemistry 40: 65-73, 2001.
[0024180]14768.Hromas, R.; Hufford, M.; Sutton, J.; Xu, D.; Li, Y.; Lu, L.: PLAB, a novel placental bone morphogenetic protein. Biochim. Biophys. Acta 1354: 40-44, 1997.
[0024181]14769.Moore, A. G.; Brown, D. A.; Fairlie, W. D.; Bauskin, A. R.; Brown, P. K.; Munier, M. L. C.; Russell, P. K.; Salamonsen, L. A.; Wallace, E. M.; Breit, S. N.: The transforming growth factorbeta superfamily cytokine macrophage inhibitory cytokine-1 is present in high concentrations in the serum of pregnant women. J. Clin. Endocr. Metab. 85: 4781-4788, 2000.
[0024182]14770.Paralkar, V. M.; Vail, A. L.; Grasser, W. A.; Brown, T. A.; Xu, H.; Vukicevic, S.; Ke, H. Z.; Qi, H.; Owen, T. A.; Thompson, D. D. : Cloning and characterization of a novel member of the transforming growth factor-beta/bone morphogenetic protein family. J. Biol. Chem. 273: 13760-13767, 1998.
[0024183]14771.Yokoyama-Kobayashi, M.; Saeki, M.; Sekine, S.; Kato, S.: Human cDNA encoding a novel TGF-beta superfamily protein highly expressed in placenta. J. Biochem. 122: 622-626, 1997.
[0024184]14772.Conklin, D. C.; Rixon, M. W.; Kuestner, R. E.; Maurer, M. F.; Whitmore, T. E.; Millar, R. P.: Cloning and gene expression of a novel human ribonucleoprotein. Biochim. Biophys. Acta 1492: 465-469, 2000.
[0024185]14773.Kataoka, N.; Yong, J.; Kim, V. N.; Velazquez, F.; Perkinson, R. A.; Wang, F.; Dreyfuss, G.: Pre-mRNA splicing imprints mRNA in the nucleus with a novel RNA-binding protein that persists in the cytoplasm. Molec. Cell 6: 673-682, 2000.
[0024186]14774.Salicioni, A. M.; Xi. M.; Vanderveer, L. A.; Balsara, B.; Testa, J. R.; Dunbrack, R. L., Jr.; Godwin, A. K.: Identification and structural analysis of human RBM8A and RBM8B: two highly conserved RNA-binding motif proteins that interact with OVCA1, a candidate tumor suppressor. Genomics 69: 54-62, 2000.
[0024187]14775.Zhao, X.-F.; Nowak, N. J.; Shows, T. B.; Aplan, P. D.: MAGOH interacts with a novel RNA-binding protein. Genomics 63: 145-148, 2000.
[0024188]14776.Fischle, W.; Emiliani, S.; Hendzel, M. J.; Nagase, T.; Nomura, N.; Voelter, W.; Verdin, E.: A new family of human histone deacetylases related to Saccharomyces cerevisiae HDA1p. J. Biol. Chem. 274: 11713-11720, 1999.
[0024189]14777.Pazin, M. J.; Kadonaga, J. T.: What's up and down with histone deacetylation and transcription? Cell 89: 325-328, 1997.
[0024190]14778.Zhou, L.-J.; Tedder, T. F.: Human blood dendritic cells selectively express CD83, a member of the immunoglobulin superfamily. J. Immun. 154: 3821-3835, 1995.
[0024191]14779.Zhou, L. J.; Schwarting, R.; Smith, H. M.; Tedder, T. F.: A novel cell-surface molecule expressed by human interdigitating reticulum cells, Langerhans cells, and activated lymphocytes is a new member of the Ig superfamily. J. Immun. 149: 735-742, 1992.
[0024192]14780.Bost-Usinger, L.; Chen, R. J.; Hillman, D.; Park, P.; Burnside, B.: Multiple kinesin family members expressed in teleost retina and RPE include a novel C-terminal kinesin. Exp. Eye Res. 64: 781-794, 1997.
[0024193]14781.Hoang, E. H.; Whitehead, J. L.; Dose, A. C.; Burnside, B.: Cloning of a novel Cterminal kinesin (KIFC3) that maps to human chromosome 16q13-q21 and thus is a candidate gene for Bardet-Biedl syndrome. Genomics 52: 219-222, 1998.
[0024194]14782.Kiss, H.; Kedra, D.; Yang, Y.; Kost-Alimova, M.; Kiss, C.; O'Brien, K. P.; Fransson, I.; Klein, G.; Imreh, S.; Dumanski, J. P.: A novel gene containing LIM domains (LIMD1) is located within the common eliminated region 1 (C3CER1) in 3p21.3. Hum. Genet. 105: 552-559, 1999.
[0024195]14783.Szeles, A.; Yang, Y.; Sandlund, A. M.; Kholodnyuck, I.; Kiss, H.; Kost-Alimova, M.; Zabarovsky, E. R.; Stanbridge, E.; Klein, G.; Imreh, S.: Human/mouse microcell hybrid based on elimination test reduces the putative tumor suppressor region at 3p21.3 to 1.6 cM. Genes Chromosomes Cancer 20: 329-336, 1997.
[0024196]14784.Norman, D. A. M.; Barton, P. J. R.: Isolation, sequence, and chromosomal localisation of the human I(kappa)BR gene. Ann. Hum. Genet. 64: 15-23, 2000.
[0024197]14785.Ray, P.; Zhang, D.-H.; Elias, J. A.; Ray, A.: Cloning of a differentially expressed Ikappa-B-related protein. J. Biol. Chem. 270: 10680-10685, 1995.
[0024198]14786.Lovering, R.; Trowsdale, J.: A gene encoding 22 highly related zinc fingers is expressed in lymphoid cell lines. Nucleic Acids Res. 19: 2921-2928, 1991.
[0024199]14787.Uchiumi, T.; Hinoshita, E.; Haga, S.; Nakamura, T.; Tanaka, T.; Toh, S.; Furukawa, M.; Kawabe, T.; Wada, M.; Kagotani, K.; Okumura, K.; Kohno, K.; Akiyama, S.; Kuwano, M.: Isolation of a novel human canalicular multispecific organic anion transporter, cMOAT2/MRP3, and its expression in cisplatin-resistant cancer cells with decreased ATP-dependent drug transport. Biochem. Biophys. Res. Commun. 252: 103-110, 1998.
[0024200]14788.Deng, X.; Ito, T.; Carr, B.; Mumby, M.; May, W. S., Jr.: Reversible phosphorylation of Bcl2 following interleukin 3 or bryostatin 1 is mediated by direct interaction with protein phosphatase 2A. J. Biol. Chem. 273: 34157-34163, 1998.
[0024201]14789.Fujigasaki, H.; Verma, I. C.; Camuzat, A.; Margolis, R. L.; Zander, C.; Lebre, A.-S.; Jamot, L.; Saxena, R.; Anand, I.; Holmes, S. E.; Ross, C. A.; Durr, A.; Brice, A.: SCA12 is a rare locus for autosomal dominant cerebellar ataxia: a study of an Indian family. Ann. Neurol. 49: 117-121, 2001.
[0024202]14790.Holmes, S. E.; O'Hearn, E. E.; McInnis, M. G.; Gorelick-Feldman, D. A.; Kleiderlein, J. J.; Callahan, C.; Kwak, N. G.; Ingersoll-Ashworth, R. G.; Sherr, M.; Sumner, A. J.; Sharp, A. H.; Ananth, U.; Seltzer, W. K.; Boss, M. A.; Vieria-Saecker, A.-M.; Epplen, J. T.; Riess, O.; Ross, C. A.; Margolis, R. L.: Expansion of a novel CAG trinucleotide repeat in the 5-prime region of PPP2R2B is associated with SCA12. (Letter) Nature Genet. 23: 391-392, 1999.
[0024203]14791.Mayer, R. E.; Hendrix, P.; Cron, P.; Matthies, R.; Stone, S. R.; Goris, J.; Merlevede, W.; Hofsteenge, J.; Hemmings, B. A.: Structure of the 55-kDa regulatory subunit of protein phosphatase 2A: evidence for a neuronal-specific isoform. Biochemistry 30: 3589-3597, 1991.
[0024204]14792.Mayer-Jaekel, R. E.; Ohkura, H.; Gomes, R.; Sunkel, C. E.; Baumgartner, S.; Hemmings, B. A.; Glover, D. M.: The 55 kd regulatory subunit of Drosophila protein phosphatase 2A is required for anaphase. Cell 72: 621-633, 1993.
[0024205]14793.Millward, T. A.; Zolnierowicz, S.; Hemmings, B. A.: Regulation of protein kinase cascades by protein phosphatase 2A. Trends Biochem. Sci. 24: 186-191, 1999.
[0024206]14794.Santoro, M. F.; Annand, R. R.; Robertson, M. M.; Peng, Y.-W.; Brady, M. J.; Mankovich, J. A.; Hackett, M. C.; Ghayur, T.; Walter, G.; Wong, W. W.; Giegel, D. A.: Regulation of protein phosphatase 2A activity by caspase-3 during apoptosis. J. Biol. Chem. 273: 13119-13128, 1998.
[0024207]14795.Schols, L.; Amoiridis, G.; Buttner, T.; Przuntek, H.; Epplen, J. T.; Riess, O.: Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes? Ann. Neurol. 42: 924-932, 1997.
[0024208]14796.Sontag, E.; Nunbhakdi-Craig, V.; Lee, G.; Brandt, R.; Kamibayashi, C.; Kuret, J.; White, C. L., III; Mumby, M. C.; Bloom, G. S.: Molecular interactions among protein phosphatase 2A, tau, and microtubules. J. Biol. Chem. 274: 25490-25498, 1999.
[0024209]14797.Almeida, R.; Levery, S. B.; Mandel, U.; Kresse, H.; Schwientek, T.; Bennett, E. P.; Clausen, H.: Cloning and expression of a proteoglycan UDP-galactose:beta-xylose beta-1,4-galactosyltransferase I: a seventh member of the human beta4-galactosyltransferase gene family. J. Biol. Chem. 274: 26165-26171, 1999.
[0024210]14798.Kuroiwa, A.; Matsuda, Y.; Okajima, T.; Furukawa, K.: Assignment of human xylosylprotein beta-1,4-galactosyltransferase gene (B4GALT7) to human chromosome 5q35.2-q35.3 by in situ hybridization. Cytogenet. Cell Genet. 89: 8-9, 2000.
[0024211]14799.Bruhn, S. L.; Pil, P. M.; Essigmann, J. M.; Housman, D. E.; Lippard, S. J.: Isolation and characterization of human cDNA clones encoding a high mobility group box protein that recognizes structural distortions to DNA caused by binding of the anticancer agent cisplatin. Proc. Nat. Acad. Sci. 89: 2307-2311, 1992.
[0024212]14800.Orphanides, G.; LeRoy, G.; Chang, C.-H.; Luse, D. S.; Reinberg, D.: FACT, a factor that facilitates transcript elongation through nucleosomes. Cell 92: 105-116, 1998.
[0024213]14801.Endele, S.; Fuhry, M.; Pak, S. J.; Zabel, B. U.; Winterpacht, A. : LETM1, a novel gene encoding a putative EF-hand Ca(2+)-binding protein, flanks the Wolf-Hirschhorn syndrome (WHS) critical region and is deleted in most WHS patients. Genomics 60: 218-225, 1999.
[0024214]14802.Taki, T.; Kano, H.; Taniwaki, M.; Sako, M.; Yanagisawa, M.; Hayashi, Y.: AF5q31, a newly identified AF4-related gene, is fused to MLL in infant acute lymphoblastic leukemia with ins(5;11)(q31;q31q23). Proc. Nat. Acad. Sci. 96: 14535-14540, 1999.
[0024215]14803.Caira, F.; Antonson, P.; Pelto-Huikko, M.; Treuter, E.; Gustafsson, J.-A.: Cloning and characterization of RAP250, a novel nuclear receptor coactivator. J. Biol. Chem. 275: 5308-5317, 2000.
[0024216]14804.Guan, X. Y.; Xu, J.; Anzick, S. L.; Zhang, H.; Trent, J. M.; Meltzer, P. S.: Hybrid selection of transcribed sequences from microdissected DNA: isolation of genes within amplified region at 20q11-q13.2 in breast cancer. Cancer Res. 56: 3446-3450, 1996.
[0024217]14805.Ko, L.; Cardona, G. R.; Chin, W. W.: Thyroid hormone receptor-binding protein, an LXXLL motif-containing protein, functions as a general coactivator. Proc. Nat. Acad. Sci. 97: 6212-6217, 2000.
[0024218]14806.Lee, S.-K.; Anzick, S. L.; Choi, J.-E.; Bubendorf, L.; Guan, X.-Y.; Jung, Y.-K.; Kallioniemi, O. P.; Kononen, J.; Trent, J. M.; Azorsa, D.; Jhun, B.-H.; Cheong, J. H.; Lee, Y. C.; Meltzer, P. S.; Lee, J. W.: A nuclear factor, ASC-2, as a cancer-amplified transcriptional coactivator essential for ligand-dependent transactivation by nuclear receptors in vivo. J. Biol. Chem. 274: 34283-34293, 1999.
[0024219]14807.Mahajan, M. A.; Samuels, H. H: A new family of nuclear receptor coregulators that integrate nuclear receptor signaling through CREB-binding protein. Molec. Cell. Biol. 20: 5048-5063, 2000.
[0024220]14808.Zhu, Y.; Kan, L.; Qi, C.; Kanwar, Y. S.; Yeldandi, A. V.; Rao, M. S.; Reddy, J. K.: Isolation and characterization of peroxisome proliferator-activated receptor (PPAR) interacting protein (PRIP) as a coactivator for PPAR. J. Biol. Chem. 275: 13510-13516, 2000.
[0024221]14809.Glockner, G.; Scherer, S.; Schattevoy, R.; Boright, A.; Weber, J.; Tsui, L.-C.; Rosenthal, A.: Large-scale sequencing of two regions in human chromosome 7q22: analysis of 650 kb of genomic sequence around the EPO and CUTL1 loci reveals 17 genes. Genome Res. 8: 1060-1073, 1998.
[0024222]14810.Yokouchi, M.; Suzuki, R.; Masuhara, M.; Komiya, S.; Inoue, A.; Yoshimura, A.: Cloning and characterization of APS, an adaptor molecule containing PH and SH2 domains that is tyrosine phosphorylated upon B-cell receptor stimulation. Oncogene 15: 7-15, 1997.
[0024223]14811.Still, I. H.; Hamilton, M.; Vince, P.; Wolfman, A.; Cowell, J. K.: Cloning of TACC1, an embryonically expressed, potentially transforming coiled coil containing gene, from the 8p11 breast cancer amplicon. Oncogene 18: 4032-4038, 1999.
[0024224]14812.Burmester, T.; Weich, B.; Reinhardt, S.; Hankeln, T.: A vertebrate globin expressed in the brain. Nature 407: 520-523, 2000.
[0024225]14813.Moens, L.; Dewilde, S.: Globins in the brain. Nature 407: 461-462, 2000.
[0024226]14814.Cadigan, K. M.; Nusse, R.: Wnt signaling: a common theme in animal development. Genes Dev. 11: 3286-3305, 1997.
[0024227]14815.Parr, B. A.; Shea, M. J.; Vassileva, G.; McMahon, A. P.: Mouse Wnt genes exhibit discrete domains of expression in the early embryonic CNS and limb buds. Development 119: 247-261, 1993.
[0024228]14816.Rankin, J.; Strachan, T.; Lako, M.; Lindsay, S.: Partial cloning and assignment of WNT6 to human chromosome band 2q35 by in situ hybridization. Cytogenet. Cell Genet. 84: 50-52, 1999.
[0024229]14817.Vainio, S.; Parr, B.; McMahon, A.: Sexually dimorphic development of the mammalian reproductive system is regulated by WNT-signaling. (Abstract) Molec. Biol. Cell (suppl.) 8: 349a only, 12/1997.
[0024230]14818.Ann, K.; Kowalchyk, J. A.; Loyet, K. M.; Martin, T. F. J.: Novel Ca(2+)-binding protein (CAPS) related to UNC-31 required for Ca(2+)-activated exocytosis. J. Biol. Chem. 272: 19637-19640, 1997.
[0024231]14819.Berwin, B.; Floor, E.; Martin, T. F. J.: CAPS (mammalian UNC-31) protein localizes to membranes involved in dense-core vesicle exocytosis. Neuron 21: 137-145, 1998.
[0024232]14820.Hirosawa, M.; Nagase, T.; Ishikawa, K.; Kikuno, R.; Nomura, N.; Ohara, O.: Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. DNA Res. 6: 329-336, 1999.
[0024233]14821.Walent, J. H.; Porter, B. W.; Martin, T. F. J.: A novel 145 kd brain cytosolic protein reconstitutes Ca(2+)-regulated secretion in permeable neuroendocrine cells. Cell 70: 765-775, 1992.
[0024234]14822.Veldhuisen, B.; Spruit, L.; Dauwerse, H. G.; Breuning, M. H.; Peters, D. J.: Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2). Europ. J. Hum. Genet. 7: 860-872, 1999.
[0024235]14823.Hughes, J.; Ward, C. J.; Aspinwall, R.; Butler, R.; Harris, P. C.: Identification of a human homologue of the sea urchin receptor for egg jelly: a polycystic kidney disease-like protein. Hum. Molec. Genet. 8: 543-549, 1999.
[0024236]14824.Feinberg, H.; Mitchell, D. A.; Drickamer, K.; Weis, W. I.: Structural basis for selective recognition of oligosaccharides by DC-SIGN and DC-SIGNR. Science 294: 2163-2166, 2001.
[0024237]14825.Xia, J.; Liu, C.; Tang, B.; Pan, Q.; Huang, L.; Dai, H.; Zhang, B.; Xie, W.; Hu, D.; Zheng, D.; Shi, X.; Wang, D.; Xia, K.; Yu, K.; Liao, X.; Feng, Y.; Yang, Y.; Xiao, J.; Xie, D.; Huang, J.: Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. Nature Genet. 20: 370-373, 1998. Note: Erratum: Nature Genet.:21: 241 only, 1999.
[0024238]14826.Mueller, L.; Cordes, V. C.; Bischoff, F. R.; Ponstingl, H.: Human RanBP3, a group of nuclear RanGTP binding proteins. FEBS Lett. 427: 330-336, 1998.
[0024239]14827.Rasooly, R. S.: Personal Communication. Baltimore, Md. 11/30/1998.
[0024240]14828.Good, P.; Yoda, A.; Sakakibara, S.; Yamamoto, A.; Imai, T.; Sawa, H.; Ikeuchi, T.; Tsuji, S.; Satoh, H.; Okano, H.: The human Musashi homolog 1 (MSI1) gene encoding the homologue of Musashi/Nrp-1, a neural RNA-binding protein putatively expressed in CNS stem cells and neural progenitor cells. Genomics 52: 382-384, 1998.
[0024241]14829.Crackower, M. A.; Sinasac, D. S.; Xia, J.; Motoyama, J.; Prochazka, M.; Rommens, J. M.; Scherer, S. W.; Tsui, L.-C.: Cloning and characterization of two cytoplasmic dynein intermediate chain genes in mouse and human. Genomics 55: 257-267, 1999.
[0024242]14830.Rodrigues Pereira, R.; Scholte, H. R.; Luyt-Houwen, I. E. M.; Vaandrager-Verduin, M. H. M.: Cardiomyopathy associated with carnitine loss in kidneys and small intestine. Europ. J. Pediat. 148: 193-197, 1988.
[0024243]14831.Scholte, H. R.; Rodrigues Pereira, R.; de Jonge, P. C.; Luyt-Houwen, I. E. M.; Hedwig, M.; Verduin, M.; Ross, J. D.: Primary carnitine deficiency. J. Clin. Chem. Clin. Biochem. 28: 351-357, 1990.
[0024244]14832.Tang, N. L.; Hui, J.; Law, L. K.; To, K. F.; Ruiter, J. P.; IJlst, L.; Wanders, R. J.; Ho, C. S.; Fok, T. F.; Yuen, P. M.; Hjelm, N. M.: Primary plasmalemmal carnitine transporter defect manifested with dicarboxylic aciduria and impaired fatty acid oxidation. J. Inherit. Metab. Dis. 21: 423-425, 1998.
[0024245]14833.Tang, N. L. S.; Ganapathy, V.; Wu, X.; Hui, J.; Seth, P.; Yuen, P. M. P.; Fok, T. F.; Hjelm, N. M.: Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency. Hum. Molec. Genet. 8: 655-660, 1999.
[0024246]14834.Vaz, F. M.; Scholte, H. R.; Ruiter, J.; Hussaarts-Odijk, L. M.; Rodrigues Pereira, R.; Schweitzer, S.; de Klerk, J. B. C.; Waterham, H. R.; Wanders, R. J. A.: Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency. Hum. Genet. 105: 157-161, 1999.
[0024247]14835.Wang, Y.; Taroni, F.; Garavaglia, B.; Longo, N.: Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation. Hum. Mutat. 16: 401-407, 2000.
[0024248]14836.Wang, Y.; Ye, J.; Ganapathy, V.; Longo, N.: Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency. Proc. Nat. Acad. Sci. 96: 2356-2360, 1999.
[0024249]14837.Wu, X.; Prasad, P. D.; Leibach, F. H.; Ganapathy, V.: cDNA sequence, transport function, and genomic organization of human OCTN2, a new member of the organic cation transporter family. Biochem. Biophys. Res. Commun. 246: 589-595, 1998.
[0024250]14838.Hart, M. J.; Callow, M. G.; Souza, B.; Polakis, P.: IQGAP1, a calmodulin-binding protein with a rasGAP-related domain, is a potential effector for cdc42Hs. EMBO J. 15: 2997-3005, 1996.
[0024251]14839.Sugimoto, N.; Imoto, I.; Fukuda, Y.; Kurihara, N.; Kuroda, S.; Tanigami, A.; Kaibuchi, K.; Kamiyama, R.; Inazawa, J.: IQGAP1, a negative regulator of cell-cell adhesion, is upregulated by gene amplification at 15q26 in gastric cancer cell lines HSC39 and 40A. J. Hum. Genet. 46: 21-25, 2001.
[0024252]14840.Weissbach, L.; Settleman, J.; Kalady, M. F.; Snijders, A. J.; Murthy, A. E.; Yan, Y.-X.; Bernards, A.: Identification of a human RasGAP-related protein containing calmodulin-binding motifs. J. Biol. Chem. 269: 20517-20521, 1994.
[0024253]14841.Brocker, F.; Bardenheuer, W.; Vieten, L.; Julicher, K.; Werner, N.; Marquitan, G.; Michael, D.; Opalka, B.; Schutte, J.: Assignment of human filamin gene FLNB to human chromosome band 3p14.3 and identification of YACs containing the complete FLNB transcribed region. Cytogenet. Cell Genet. 85: 267-268, 1999.
[0024254]14842.Leedman, P. J.; Faulkner-Jones, B.; Cram, D. S.; Harrison, P. J.; West, J.; O'Brien, E.; Simpson, R.; Coppel, R. L.; Harrison, L. C. : Cloning from the thyroid of a protein related to actin binding protein that is recognized by Graves disease immunoglobulins. Proc. Nat. Acad. Sci. 90: 5994-5998, 1993.
[0024255]14843.Harrington, J. J.; Lieber, M. R.: Functional domains within FEN-1 and RAD2 define a family of structure-specific endonucleases: implications for nucleotide excision repair. Genes Dev. 8: 1344-1355, 1994.
[0024256]14844.Dahl, M. R.; Thiel, S.; Matsushita, M.; Fujita, T.; Willis, A. C.; Christensen, T.; Vorup-Jensen, T.; Jensenius, J. C.: MASP-3 and its association with distinct complexes of the mannan-binding lectin complement activation pathway. Immunity 15: 127-135, 2001.
[0024257]14845.Endo, Y.; Sato, T.; Matsushita, M.; Fujita, T.: Exon structure of the gene encoding the human mannose-binding protein-associated serine protease light chain: comparison with complement C1r and C1s genes. Int. Immun. 8: 1355-1358, 1996.
[0024258]14846.Matsushita, M.; Thiel, S.; Jensenius, J. C.; Terai, I.; Fujita, T.: Proteolytic activities of two types of mannose-binding lectin-associated serine protease. J. Immun. 165: 2637-2642, 2000.
[0024259]14847.Sato, T.; Endo, Y.; Matsushita, M.; Fujita, T.: Molecular characterization of a novel serine protease involved in activation of the complement system by mannose-binding protein. Int. Immun. 6: 665-669, 1994.
[0024260]14848.Takada, F.; Seki, N.; Matsuda, Y.; Takayama, Y.; Kawakami, M.: Localization of the genes for the 100-kDa complement-activating components of Ra-reactive factor (CRARF and Crarf) to human 3q27-q28 and mouse 16B2-B3. Genomics 25: 757-759, 1995.
[0024261]14849.Takada, F.; Takayama, Y.; Hatsuse, H.; Kawakami, M.: A new member of the C1s family of complement proteins found in a bactericidal factor, Ra-reactive factor, in human serum. Biochem. Biophys. Res. Commun. 196: 1003-1009, 1993.
[0024262]14850.Takayama, Y.; Takada, F.; Nowatari, M.; Kawakami, M.; Matsu-ura, N.: Gene structure of the P100 serine-protease component of the human Ra-reactive factor. Molec. Immun. 36: 505-514, 1999.
[0024263]14851.Hansen, L.; Urioste, S.; Petersen, H. V.; Jensen, J. N.; Eiberg, H.; Barbetti, F.; Serup, P.; Hansen, T.; Pedersen, O.: Missense mutations in the human insulin promoter factor-1 gene and their relation to maturity-onset diabetes of the young and late-onset type 2 diabetes mellitus in Caucasians. J. Clin. Endocr. Metab. 85: 1323-1326, 2000.
[0024264]14852.Johansson, K. A.; Grapin-Botton, A.: Development and diseases of the pancreas. Clin. Genet. 62: 14-23, 2002.
[0024265]14853.Jonnson, J.; Carlsson, L.; Edlund, T.; Edlund, H.: Insulin-promoter-factor 1 is required for pancreas development in mice. Nature 371: 606-609, 1994.
[0024266]14854.Leonard, J.; Peers, B.; Johnson, T.; Ferreri, I.; Lee, K.; Montminy, M. R.: Characterization of somatostatin transactivating factor-1, a novel homeobox factor that stimulates somatostatin expression in pancreatic islet cells. Molec. Endocr. 7: 1275-1283, 1993.
[0024267]14855.Macfarlane, W. M.; Frayling, T. M.; Ellard, S.; Evans, J. C.; Allen, L. I. S.; Bulman, M. P.; Ayres, S.; Shepherd, M.; Clark, P.; Millward, A.; Demaine, A.; Wilkin, T.; Docherty, K.; Hattersley, A. T.: Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes. J. Clin. Invest. 104: R33-R39, 1999.
[0024268]14856.Miller, C. P.; McGehee, R. E., Jr.; Habener, J. F.: IDX-1: a new homeodomain transcription factor expressed in rat pancreatic islets and duodenum that transactivates the somatostatin gene. EMBO J. 13: 1145-1156, 1994.
[0024269]14857.Ohlsson, H.; Karlsson, K.; Edlund, T.: IPF1, a homeodomain-containing transactivator of the insulin gene. EMBO J. 12: 4251-4259, 1993.
[0024270]14858.Sharma, S.; Jhala, U. S.; Johnson, T.; Ferreri, K.; Leonard, J.; Montminy, M.: Hormonal regulation of an islet-specific enhancer in the pancreatic homeobox gene STF-1. Molec. Cell. Biol. 17: 2598-2604, 1997.
[0024271]14859.Stoffel, M.; Stein, R.; Wright, C. V. E.; Espinosa, R., III; Le Beau, M. M.; Bell, G. I.: Localization of human homeodomain transcription factor insulin promoter factor 1 (IPF1) to chromosome band 13q12.1. Genomics 28: 125-126, 1995.
[0024272]14860.Stoffers, D. A.; Ferrer, J.; Clarke, W. L.; Habener, J. F.: Early-onset type-II diabetes mellitus (MODY4) linked to IPF1. (Letter) Nature Genet. 17: 138-141, 1997.
[0024273]14861.Stoffers, D. A.; Stanojevic, V.; Habener, J. F.: Insulin promoter factor-1 gene mutation linked to early-onset type 2 diabetes mellitus directs expression of a dominant negative isoprotein. J. Clin. Invest. 102: 232-241, 1998.
[0024274]14862.Watada, H.; Kajimoto, Y.; Kaneto, H.; Matsuoka, T.; Fujitani, Y.; Miyazaki, J.; Yamasaki, Y.: Involvement of the homeodomain-containing transcription factor PDX-1 in islet amyloid polypeptide gene transcription. Biochem. Biophys. Res. Commun. 229: 746-751, 1996.
[0024275]14863.Wright, N. M.; Metzger, D. L.; Borowitz, S. M.; Clarke, W. L. : Permanent neonatal diabetes mellitus and pancreatic exocrine insufficiency resulting from congenital pancreatic agenesis. Am. J. Dis. Child. 147: 607-609, 1993.
[0024276]14864.Ashford, M. L. J.; Bond, C. T.; Blair, T. A.; Adelman, J. P.: Cloning and functional expression of a rat heart KATP channel. Nature 370: 456-459, 1994.
[0024277]14865.Bond, C. T.; Pessia, M.; Xia, X.-M.; Lagrutta, A.; Kavanaugh, M. P.; Adelman, J. P.: Cloning and expression of a family of inward rectifier potassium channels. Receptors Channels 2: 183-191, 1994.
[0024278]14866.Tucker, S. J.; James, M. R.; Adelman, J. P.: Assignment of K(ATP)-1, the cardiac ATP-sensitive potassium channel gene (KCNJ5), to human chromosome 11q24. Genomics 28: 127-128, 1995.
[0024279]14867.Wickman, K.; Seldin, M. F.; Gendler, S. J.; Clapham, D. E.: Partial structure, chromosome localization, and expression of the mouse Girk4 gene. Genomics 40: 395-401, 1997.
[0024280]14868.Bange, F.-C.; Vogel, U.; Flohr, T.; Kiekenbeck, M.; Denecke, B.; Boettger, E. C.: IFP 35 is an interferon-induced leucine zipper protein that undergoes interferon-regulated cellular redistribution. J. Biol. Chem. 269: 1091-1098, 1994.
[0024281]14869.Brown, M. A.; Jones, K. A.; Nicolai, H.; Bonjardim, M.; Black, D.; McFarlane, R.; De Jong, P.; Quirk, J. P.; Lehrach, H.; Solomon, E.: Physical mapping, cloning, and identification of genes within a 500-kb region containing BRCA1. Proc. Nat. Acad. Sci. 92: 4362-4366, 1995.
[0024282]14870.Smith, T. M.; Lee, M. K.; Szabo, C. I.; Jerome, N.; McEuen, M.; Taylor, M.; Hood, L.; King, M.-C.: Complete genomic sequence and analysis of 117 kb of human DNA containing the gene BRCA1. Genomic Res. 6: 1029-1049, 1996.
[0024283]14871.Khurana, T. S.; Engle, E. C.; Bennett, R. R.; Silverman, G. A.; Selig, S.; Bruns, G. A. P.; Kunkel, L. M.: (CA) repeat polymorphism in the chromosome 18 encoded dystrophin-like protein. Hum. Molec. Genet. 3: 841 only, 1994.
[0024284]14872.Wunderle, V.; Ramkissoon, Y. D.; Kwok, C.; Korn, R. M.; King, V. E.; Goodfellow, P. N.: Breakpoint break for consortium studying adult polycystic kidney disease. Cell 77: 785-786, 1994.
[0024285]14873.Eisenberg, I.; Avidan, N.; Potikha, T.; Hochner, H.; Chen, M.; Olender, T.; Barash, M.; Shemesh, M.; Sadeh, M.; Grabov-Nardini, G.; Shmilevich, I.; Friedmann, A.; Karpati, G.; Bradley, W. G.; Baumbach, L.; Lancet, D.; Ben Asher, E.; Beckmann, J. S.; Argov, Z.; Mitrani-Rosenbaum, S.: The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. Nature Genet. 29: 83-87, 2001.
[0024286]14874.Metzinger, L.; Blake, D. J.; Squier, M. V.; Anderson, L. V. B.; Deconinck, A. E.; Nawrotzki, R.; Hilton-Jones, D.; Davies, K. E.: Dystrobrevin deficiency at the sarcolemma of patients with muscular dystrophy. Hum. Molec. Genet. 6: 1185-1191, 1997.
[0024287]14875.Sadoulet-Puccio, H. M.; Feener, C. A.; Schaid, D. J.; Thibodeau, S. N.; Michels, V. V.; Kunkel, L. M.: The genomic organization of human dystrobrevin. Neurogenetics 1: 37-42, 1997.
[0024288]14876.Sadoulet-Puccio, H. M.; Khurana, T. S.; Cohen, J. B.; Kunkel, L. M.: Cloning and characterization of the human homologue of a dystrophin related phosphoprotein found at the Torpedo electric organ post-synaptic membrane. Hum. Molec. Genet. 5: 489-496, 1996.
[0024289]14877.Yoshida, M.; Hama, H.; Ishikawa-Sakurai, M.; Imamura, M.; Mizuno, Y.; Araishi, K.; Wakabayashi-Takai, E.; Noguchi, S.; Sasaoka, T.; Ozawa, E.: Biochemical evidence for association of dystrobrevin with the sarcoglycan-sarcospan complex as a basis for understanding sarcoglycanopathy. Hum. Molec. Genet. 9: 1033-1040, 2000.
[0024290]14878.Chae, Y.-J.; Chung, C.-E.; Kim, B.-J.; Lee, M.-H.; Lee, H.: The gene encoding guanidinoacetate methyltransferase (GAMT) maps to human chromosome 19 at band p13.3 and to mouse chromosome 10. Genomics 49: 162-164, 1998.
[0024291]14879.Isbrandt, D.; von Figura, K.: Cloning and sequence analysis of human guanidinoacetate N-methyltransferase cDNA. Biochim. Biophys. Acta 1264: 265-267, 1995.
[0024292]14880.Schulze, A.; Hess, T.; Wevers, R.; Mayatepek, E.; Bachert, P.; Marescau, B.; Knopp, M. V.; De Deyn, P. P.; Bremer, H. J.; Rating, D.: Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism. J. Pediat. 131: 626-631, 1997.
[0024293]14881.Stockler, S.; Holzbach, U.; Hanefeld, F.; Marquardt, I.; Helms, G.; Requart, M.; Hanicke, W.; Frahm, J.: Creatine deficiency in the brain: a new, treatable inborn error of metabolism. Pediat. Res. 36: 409-413, 1994.
[0024294]14882.Stockler, S.; Isbrandt, D.; Hanefeld, F.; Schmidt, B.; von Figura, K.: Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man. Am. J. Hum. Genet. 58: 914-922, 1996.
[0024295]14883.Verhoeven, N. M.; Guerand, W. S.; Struys, E. A.; Bouman, A. A.; van der Knaap, M. S.; Jakobs, C.: Plasma creatinine assessment in creatine deficiency: a diagnostic pitfall. J. Inherit. Metab. Dis. 23: 835-840, 2000.
[0024296]14884.Elsea, S. H.; Fritz, E.; Schoener-Scott, R.; Meyn, M. S.; Patel, P. I.: Gene for topoisomerase III maps within the Smith-Magenis syndrome critical region: analysis of cell-cycle distribution and radiation sensitivity. Am. J. Med. Genet. 75: 104-108, 1998.
[0024297]14885.Fritz, E.; Elsea, S. H.; Patel, P. I.; Meyn, M. S.: Overexpression of a truncated human topoisomerase III partially corrects multiple aspects of the ataxia-telangiectasia phenotype. Proc. Nat. Acad. Sci. 94: 4538-4542, 1997.
[0024298]14886.Chappell, T. G.; Welch, W. J.; Schlossman, D. M.; Palter, K. B.; Schlesinger, M. J.; Rothman, J. E.: Uncoating ATPase is a member of the 70 kilodalton family of stress proteins. Cell 45: 3-13, 1986.
[0024299]14887.Dworniczak, B.; Mirault, M.-E.: Structure and expression of a human gene coding for a 71 kd heat shock 'cognate' protein. Nucleic Acids Res. 15: 5181-5197, 1987.
[0024300]14888.Tavaria, M.; Gabriele, T.; Anderson, R. L.; Mirault, M.-E.; Baker, E.; Sutherland, G.; Kola, I.: Localization of the gene encoding the human heat shock cognate protein, HSP73, to chromosome 11. Genomics 29: 266-268, 1995.
[0024301]14889.Ungewickell, E.: The 70-kd mammalian heat shock proteins are structurally and functionally related to the uncoating protein that releases clathrin triskelia from coated vesicles. EMBO J. 4: 3385-3391, 1985.
[0024302]14890.Polymeropoulos, M. H.; Ide, S.; Soares, M. B.; Lennon, G. G.: Sequence characterization and genetic mapping of the human VSNL1 gene, a homologue of the rat visinin-like peptide RNVP1. Genomics 29: 273-275, 1995.
[0024303]14891.Camoretti-Mercado, B.; Forsythe, S. M.; LeBeau, M. M.; Espinosa, R., III; Vieira, J. E.; Halayko, A. J.; Willadsen, S.; Kurtz, B.; Ober, C.; Evans, G. A.; Thweatt, R.; Shapiro, S.; Niu, Q.; Qin, Y.; Padrid, P. A.; Solway, J.: Expression and cytogenetic localization of the human SM22 gene (TAGLN). Genomics 49: 452-457, 1998.
[0024304]14892.Lawson, D.; Harrison, M.; Shapland, C.: Fibroblast transgelin and smooth muscle SM22-alpha are the same protein, the expression of which is down-regulated in many cell lines. Cell Motil. Cytoskeleton 38: 250-257, 1997.
[0024305]14893.Lees-Miller, J. P.; Heeley, D. H.; Smillie, L. B.; Kay, C. M.: Isolation and characterization of an abundant and novel 22-kDa protein (SM22) from chicken gizzard smooth muscle. J. Biol. Chem. 262: 2988-2993, 1987.
[0024306]14894.Nishida, W.; Kitami, Y.; Abe, M.; Hiwada, K.: Gene cloning and nucleotide sequence of SM22-alpha from the chicken gizzard smooth muscle. Biochem. Int. 23: 663-668, 1991.
[0024307]14895.Shapland, C.; Hsuan, J. J.; Totty, N. F.; Lawson, D.: Purification and properties of transgelin: a transformation and shape change sensitive actin-gelling protein. J. Cell Biol. 121: 1065-1073, 1993.
[0024308]14896.Shapland, C.; Lowings, P.; Lawson, D.: Identification of new actin-associated polypeptides that are modified by viral transformation and changes in cell shape. J. Cell Biol. 107: 153-161, 1988.
[0024309]14897.Solway, J.; Seltzer, J.; Samaha, F. F.; Kim, S.; Alger, L. E.; Niu, Q.; Morrisey, E. E.; Ip, H. S.; Parmacek, M. S.: Structure and expression of a smooth muscle cell-specific gene, SM22-alpha. J. Biol. Chem. 270: 13460-13469, 1995.
[0024310]14898.Stanier, P.; Abu-Hayyeh, S.; Murdoch, J. N.; Eddleston, J.; Copp, A. J.: Paralogous Sm22-alpha (Tagln) genes map to mouse chromosomes 1 and 9: further evidence for a paralogous relationship. Genomics 51: 144-147, 1998.
[0024311]14899.Thweatt, R.; Lumpkin, C. K., Jr.; Goldstein, S.: A novel gene encoding a smooth muscle protein is overexpressed in senescent human fibroblasts. Biochem. Biophys. Res. Commun. 187: 1-7, 1992.
[0024312]14900.Tamanini, F.; Bontekoe, C.; Bakker, C. E.; van Unen, L.; Anar, B.; Willemsen, R.; Yoshida, M.; Galjaard, H.; Oostra, B. A.; Hoogeveen, A. T.: Different targets for the fragile X-related proteins revealed by their distinct nuclear localizations. Hum. Molec. Genet. 8: 863-869, 1999.
[0024313]14901.Tamanini, F.; Kirkpatrick, L. L.; Schonkeren, J.; van Unen, L.; Bontekoe, C.; Bakker, C.; Nelson, D. L.; Galjaard, H.; Oostra, B. A.; Hoogeveen, A. T.: The fragile X-related proteins FXR1P and FXR2P contain a functional nucleolar-targeting signal equivalent to the HIV-1 regulatory proteins. Hum. Molec. Genet. 9: 1487-1493, 2000.
[0024314]14902.Radice, P.; Pensotti, V.; Jones, C.; Perry, H.; Pierotti, M. A.; Tunnacliffe, A.: The human archain gene, ARCN1, has highly conserved homologs in rice and Drosophila. Genomics 26: 101-106, 1995.
[0024315]14903.Tunnacliffe, A.; van de Vrugt, H.; Pensotti, V.; Radice, P.: The coatomer protein delta-COP, encoded by the archain gene, is conserved across diverse eukaryotes. Mammalian Genome 7: 784-786, 1996.
[0024316]14904.Hawtin, S. R.; Wesley, V. J.; Parslow, R. A.; Simms, J.; Miles, A.; McEwan, K.; Wheatley, M.: A single residue (arg46) located within the N-terminus of the V(1a) vasopressin receptor is critical for binding vasopressin but not peptide or nonpeptide antagonists. Molec. Endocr. 16: 600-609, 2002.
[0024317]14905.Morel, A.; O'Carroll, A.-M.; Brownstein, M. J.; Lolait, S. J.: Molecular cloning and expression of a rat V1a arginine vasopressin receptor. Nature 356: 523-526, 1992.
[0024318]14906.Thibonnier, M.; Auzan, C.; Madhun, Z.; Wilkins, P.; Berti-Mattera, L.; Clauser, E.: Molecular cloning, sequencing, and functional expression of a cDNA encoding the human V1a vasopressin receptor. J. Biol. Chem. 269: 3304-3310, 1994.
[0024319]14907.Thibonnier, M.; Graves, M. K.; Wagner, M. S.; Auzan, C.; Clauser, E.; Willard, H. F.: Structure, sequence, expression, and chromosomal localization of the human V(1a) vasopressin receptor gene. Genomics 31: 327-334, 1996.
[0024320]14908.Young, L. J.; Nilsen, R.; Waymire, K. G.; MacGregor, G. R.; Insel, T. R.: Increased affiliative response to vasopressin in mice expressing the V(1A) receptor from a monogamous vole. Nature 400: 766-768, 1999.
[0024321]14909.Weber, B. H. F.; Brohm, M.; Stec, I.; Backe, J.; Caffier, H.: A somatic truncating mutation in BRCA2 in a sporadic breast tumor. Am. J. Hum. Genet. 59: 962-964, 1996.
[0024322]14910.Huh, T.-L.; Kim, Y.-O.; Oh, I.-U.; Song, B. J.; Inazawa, J.: Assignment of the human mitochondrial NAD(+)-specific isocitrate dehydrogenase alpha subunit (IDH3A) gene to 15q25.1-q25.2 by in situ hybridization. Genomics 31: 295-296, 1996.
[0024323]14911.Kim, Y.-O.; Oh, I.-U.; Park, H.-S.; Jeng, J.; Song, B. J.; Huh, T.-L.: Characterization of a cDNA clone for human NAD(+)-specific isocitrate dehydrogenase alpha-subunit and structural comparison with its isoenzymes from different species. Biochem. J. 308: 63-68, 1995.
[0024324]14912.Amann, J.; Kidd, V. J.; Lahti, J. M.: Characterization of putative human homologues of the yeast chromosome transmission fidelity gene, CHL1. J. Biol. Chem. 272: 3823-3832, 1997.
[0024325]14913.Amann, J.; Valentine, M.; Kidd, V. J.; Lahti, J. M.: Localization of Chl1-related helicase genes to human chromosome regions 12p11 and 12p13: similarity between parts of these genes and conserved human telomeric-associated DNA. Genomics 32: 260-265, 1996.
[0024326]14914.Frank, S.; Werner, S.: The human homologue of the yeast CHL1 gene is a novel keratinocyte growth factor-regulated gene. J. Biol. Chem. 271: 24337-24340, 1996.
[0024327]14915.Barnes, L. D.; Garrison, P. N.; Siprashvili, Z.; Guranowski, A.; Robinson, A. K.; Ingram, S. W.; Croce, C. M.; Ohta, M.; Huebner, K. : Fhit, a putative tumor suppressor in humans, is a dinucleoside 5-prime,5-triple prime-P(1),P(3)-triphosphate hydrolase. Biochemistry 35: 11529-11535, 1996.
[0024328]14916.Bernar, J.; Funderburk, S. J.; Sparkes, R. S.: The inducible fragile site on chromosome 3. (Letter) Hum. Genet. 66: 373 only, 1984.
[0024329]14917.Rajan, J. V.; Wang, M.; Marquis, S. T.; Chodosh, L. A.: Brca2 is coordinately regulated with Brca1 during proliferation and differentiation in mammary epithelial cells. Proc. Nat. Acad. Sci. 93: 13078-13083, 1996.
[0024330]14918.Rebbeck, T. R.; Lynch, H. T.; Neuhausen, S. L.; Narod, S. A.; van't Veer, L.; Garber, J. E.; Evans, G.; Isaacs, C.; Daly, M. B.; Matloff, E.; Olopade, O. I.; Weber, B. L. Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. New Eng. J. Med. 346: 1616-1622, 2002.
[0024331]14919.Risch, H. A.; McLaughlin, J. R.; Cole, D. E. C.; Rosen, B.; Bradley, L.; Kwan, E.; Jack, E.; Vesprini, D. J.; Kuperstein, G.; Abrahamson, J. L. A.; Fan, I.; Wong, B.; Narod, S. A.: Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. Am. J. Hum. Genet. 68: 700-710, 2001.
[0024332]14920.Roa, B. B.; Boyd, A. A.; Volcik, K.; Richards, C. S.: Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nature Genet. 14: 185-187, 1996.
[0024333]14921.Sarantaus, L.; Huusko, P.; Eerola, H.; Launonen, V.; Vehmanen, P.; Rapakko, K.; Gillanders, E.; Syrjakoski, K.; Kainu, T.; Vahteristo, P.; Krahe, R.; Paakkonen, K.; and 14 others: Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland. Europ. J. Hum. Genet. 8: 757-763, 2000.
[0024334]14922.Sarantaus, L.; Vahteristo, P.; Bloom, E.; Tamminen, A.; Unkila-Kallio, L.; Butzow, R.; Nevanlinna, H. BRCA1 and BRCA2 mutations among 233 unselected Finnish ovarian carcinoma patients. Europ. J. Hum. Genet. 9: 424-430, 2001.
[0024335]14923.Sharan, S. K.; Morimatsu, M.; Albrecht, U.; Lim, D.-S.; Regel, E.; Dinh, C.; Sands, A.; Eichele, G.; Hasty, P.; Bradley, A.: Embryonic lethality and radiation hypersensitivity mediated by Rad51 in mice lacking Brca2. Nature 386: 804-810, 1997.
[0024336]14924.Sigbjornsdottir, B. I.; Ragnarsson, G.; Agnarsson, B. A.; Huiping, C.; Barkardottir, R. B.; Egilsson, V.; Ingvarsson, S.: Chromosome 8p alterations in sporadic and BRCA2 999del5 linked breast cancer. J. Med. Genet. 37: 342-347, 2000.
[0024337]14925.Spain, B. H.; Larson, C. J.; Shihabuddin, L. S.; Gage, F. H.; Verma, I. M.: Truncated BRCA2 is cytoplasmic: implications for cancer-linked mutations. Proc. Nat. Acad. Sci. 96: 13920-13925, 1999.
[0024338]14926.Stratton, M. R.; Ford, D.; Neuhasen, S.; Seal, S.; Wooster, R.; Friedman, L. S.; King, M.-C.; Egilsson, V.; Devilee, P.; McManus, R.; Daly, P. A.; Smyth, E.; Ponder, B. A. J.; Peto, J.; Cannon-Albright, L.; Easton, D. F.; Goldgar, D. E.: Familial male breast cancer is not linked to the BRCA1 locus on chromosome 17q. Nature Genet. 7: 103-107, 1994.
[0024339]14927.Struewing, J. P.; Hartge, P.; Wacholder, S.; Baker, S. M.; Berlin, M.; McAdams, M.; Timmerman, M. M.; Brody, L. C.; Tucker, M. A.: The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. New Eng. J. Med. 336: 1401-1408, 1997.
[0024340]14928.Suzuki, A.; de la Pompa, J. L.; Hakem, R.; Elia, A.; Yoshida, R.; Mo, R.; Nishina, H.; Chuang, T.; Wakeham, A.; Itie, A.; Koo, W.; Billia, P.; Ho, A.; Fukumoto, M.; Hui, C. C.; Mak, T. W.: Brca2 is required for embryonic cellular proliferation in the mouse. Genes Dev. 11: 1242-1252, 1997.
[0024341]14929.Szabo, C. I.; King, M.-C.: Population genetics of BRCA1 and BRCA2. (Editorial) Am. J. Hum. Genet. 60: 1013-1020, 1997.
[0024342]14930.Taillon-Miller, P.; Bauer-Sardina, I.; Zakeri, H.; Hillier, L.; Mutch, D. G.; Kwok, P.-Y.: The homozygous complete hydatidiform mole: a unique resource for genome studies. Genomics 46: 307-310, 1997.
[0024343]14931.Tavtigian, S. V.; Simard, J.; Rommens, J.; Couch, F.; Shattuck-Eidens, D.; Neuhausen, S.; Merajver, S.; Thorlacius, S.; Offit, K.; Stoppa-Lyonnet, D.; Belanger, C.; Bell, R.; and 37 others: The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds. Nature Genet. 12: 333-337, 1996.
[0024344]14932.Teng, D. H.-F.; Bogden, R.; Mitchell, J.; Baumgard, M.; Bell, R.; Berry, S.; David, T.; Ha, P. C.; Kehrer, R.; Jammulapati, S.; Chen, Q.; Offit, K.; Skolnick, M. H.; Tavtigian, S. V.; Jhanwar, S.; Swedlund, B.; Wong, A. K. C.; Kamb, A.: Low incidence of BRCA2 mutations in breast carcinoma and other cancers. Nature Genet. 13: 241-244, 1996.
[0024345]14933.Tesoriero, A.; Andersen, C.; Southey, M.; Somers, G.; McKay, M.; Armes, J.; McCredie, M.; Giles, G.; Hopper, J. L.; Venter, D.: De novo BRCA1 mutation in a patient with breast cancer and an inherited BRCA2 mutation. (Letter) Am. J. Hum. Genet. 65: 567-569, 1999.
[0024346]14934.Thompson, D.; Easton, D.: Variation in cancer risks, by mutation position, in BRCA2 mutation carriers. Am. J. Hum. Genet. 68: 410-419, 2001.
[0024347]14935.Thorlacius, S.; Olafsdottir, G.; Tryggvadottir, L.; Neuhausen, S.; Jonasson, J. G.; Tavtigian, S. V.; Tulinius, H.; Ogmundsdottir, H. M.; Eyfjord, J. E.: A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes. Nature Genet. 13: 117-122, 1996.
[0024348]14936.Thorlacius, S.; Sigurdsson, S.; Bjarnadottir, H.; Olafsdottir, G.; Jonasson, J. G.; Tryggvadottir, L.; Tulinius, H.; Eyfjord, J. E.: Study of a single BRCA2 mutation with high carrier frequency in a small population. Am. J. Hum. Genet. 60: 1079-1084, 1997.
[0024349]14937.Thorlacius, S.; Tryggvadottir, L.; Olafsdottir, G. H.; Jonasson, J. G.; Ogmundsdottir, H. M.; Tulinius, H.; Eyfjord, J. E.: Linkage to BRCA2 region in hereditary male breast cancer. Lancet 346: 544-545, 1995.
[0024350]14938.Tonin, P. N.; Mes-Masson, A.-M.; Futreal, P. A.; Morgan, K.; Mahon, M.; Foulkes, W. D.; Cole, D. E. C.; Provencher, D.; Ghadirian, P.; Narod, S. A.: Founder BRCA1 and BRCA2 mutations in French Canadian breast and ovarian cancer families. Am. J. Hum. Genet. 63: 1341-1351, 1998.
[0024351]14939.van der Luijt, R. B.; van Zon, P. H. A.; Jansen, R. P. M.; van der Sijs-Bos, C. J. M.; Warlam-Rodenhuis, C. C.; Ausems, M. G. E. M.: De novo recurrent germline mutation of the BRCA2 gene in a patient with early onset breast cancer. J. Med. Genet. 38: 102-105, 2001.
[0024352]14940.Wagner, T. M. U.; Hirtenlehner, K.; Shen, P.; Moeslinger, R.; Muhr, D.; Fleischmann, E.; Concin, H.; Doeller, W.; Haid, A.; Lang, A. H.; Mayer, P.; Petru, E.; and 9 others: Global sequence diversity of BRCA2: analysis of 71 breast cancer families and 95 control individuals of worldwide populations. Hum. Molec. Genet. 8: 413-423, 1999.
[0024353]14941.Warren, M.; Smith, A.; Partridge, N.; Masabanda, J.; Griffin, D.; Ashworth, A.: Structural analysis of the chicken BRCA2 gene facilitates identification of functional domains and disease causing mutations. Hum. Molec. Genet. 11: 841-851, 2002.
[0024354]14942.Auroy, S.; Avril, M.-F.; Chompret, A.; Pham, D.; Goldstein, A. M.; Bianchi-Scarra, G.; Frebourg, T.; Joly, P.; Spatz, A.; Rubino, C.; Demenais, F.; French Hereditary Melanoma Study Group; Bressac-de Paillerets, B.: Sporadic multiple primary melanoma cases: CDKN2A germline mutations with a founder effect. Genes Chromosomes Cancer 32: 195-202, 2001.
[0024355]14943.Bahuau, M.; Vidaud, D.; Jenkins, R. B.; Bieche, I.; Kimmel, D. W.; Assouline, B.; Smith, J. S.; Alderete, B.; Cayuela, J.-M.; Harpey, J.-P.; Caille, B.; Vidaud, M.: Germ-line deletion involving the INK4 locus in familial proneness to melanoma and nervous system tumors. Cancer Res. 58: 2298-2303, 1998.
[0024356]14944.Bartsch, D.; Shevlin, D. W.; Tung, W. S.; Kisker, O.; Wells, S. A., Jr.; Goodfellow, P. J.: Frequent mutations of CDKN2 in primary pancreatic adenocarcinomas. Genes Chromosomes Cancer 14: 189-195, 1995.
[0024357]14945.Borg, A.; Johansson, U.; Johannsson, O.; Hakansson, S.; Westerdahl, J.; Masback, A.; Olsson, H.; Ingvar, C.: Novel germline p16 mutation in familial malignant melanoma in southern Sweden. Cancer Res. 56: 2497-2500, 1996.
[0024358]14946.Cairns, J.; Mao, L.; Merlo, A.; Lee, D. J.; Schwab, D.; Eby, Y.; Tokino, K.; van der Riet, P.; Blaugrund, J. E.; Sidransky, D.: Rates of p16 (MTS1) mutations in primary tumors with 9p loss. Science (Letter) 265: 415-417, 1994.
[0024359]14947.Hey, P. J.; Twells, R. C. J.; Phillips, M. S.; Nakagawa, Y.; Brown, S. D.; Kawaguchi, Y.; Cox, R.; Xie, G.; Dugan, V.; Hammond, H.; Metzker, M. L.; Todd, J. A.; Hess, J. F.: Cloning of a novel member of the low-density lipoprotein receptor family. Gene 216: 103-111, 1998.
[0024360]14948.Weber, Y.; Steinberger, D.; Deuschl, G.; Benecke, R.; Muller, U.: Two previously unrecognized splicing mutations of GCH1 in dopa-responsive dystonia: exon skipping and one base insertion. Neurogenetics 1: 125-127, 1997.
[0024361]14949.Witter, K.; Werner, T.; Blusch, J. H.; Schneider, E.-M.; Riess, O.; Ziegler, I.; Rodl, W.; Bacher, A.; Gutlich, M.: Cloning, sequencing and functional studies of the gene encoding human GTP cyclohydrolase I. Gene 171: 285-290, 1996.
[0024362]14950.Bai, C.; Sen, P.; Hofmann, K.; Ma, L.; Goebl, M.; Harper, J. W.; Elledge, S. J.: SKP1 connects cell cycle regulators to the ubiquitin proteolysis machinery through a novel motif, the F-box. Cell 86: 263-274, 1996.
[0024363]14951.Kraus, B.; Pohlschmidt, M.; Leung, A. L. S.; Germino, G. G.; Snarey, A.; Schneider, M. C.; Reeders, S. T.; Frischauf, A.-M.: A novel cyclin gene (CCNF) in the region of the polycystic kidney disease gene (PKD1). Genomics 24: 27-33, 1994.
[0024364]14952.Obermayr, F.; Sutherland, H. F.; Kraus, B.; Frischauf, A.-M.: Mouse cyclin F maps to a conserved linkage group on mouse chromosome 17. Mammalian Genome 6: 149-150, 1995.
[0024365]14953.Barker, P. M.; Gowen, C. W.; Lawson, E. E.; Knowles, M. R.: Decreased sodium ion absorption across nasal epithelium of very premature infants with respiratory distress syndrome. J. Pediat. 130: 373-377, 1997.
[0024366]14954.Bonny, O.; Chraibi, A.; Loffing, J.; Jaeger, N. F.; Grunder, S.; Horisberger, J.-D.; Rossier, B. C.: Functional expression of a pseudohypoaldosteronism type I mutated epithelial Na(+) channel lacking the pore-forming region of its alpha subunit. J. Clin. Invest. 104: 967-974, 1999.
[0024367]14955.Canessa, C. M.; Schild, L.; Buell, G.; Thorens, B.; Gautschi, I.; Horisberger, J.-D.; Rossier, B. C.: Amiloride-sensitive epithelial Na(+)-channel is made of three homologous subunits. Nature 367: 463-467, 1994.
[0024368]14956.Donaldson, S. H.; Hirsh, A.; Li, D. C.; Holloway, G.; Chao, J.; Boucher, R. C.; Gabriel, S. E.: Regulation of the epithelial sodium channel by serine proteases in human airways. J. Biol. Chem. 277: 8338-8345, 2002.
[0024369]14957.Harvey, K. F.; Dinudom, A.; Cook, D. I.; Kumar, S.: The Nedd4-like protein KIAA0439 is a potential regulator of the epithelial sodium channel. J. Biol. Chem. 276: 8597-8601, 2001.
[0024370]14958.Iwai, N.; Baba, S.; Mannami, T.; Ogihara, T.; Ogata, J.: Association of a sodium channel alpha subunit promoter variant with blood pressure. J. Am. Soc. Nephrol. 13: 80-85, 2002.
[0024371]14959.Ludwig, M.; Bolkenius, U.; Wickert, L.; Marynen, P.; Bidlingmaier, F.: Structural organisation of the gene encoding the alpha-subunit of the human amiloride-sensitive epithelial sodium channel. Hum. Genet. 102: 576-581, 1998.
[0024372]14960.Meisler, M. H.; Barrow, L. L.; Canessa, C. M.; Rossier, B. C. : SCNN1, an epithelial cell sodium channel gene in the conserved linkage group on mouse chromosome 6 and human chromosome 12. Genomics 24: 185-186, 1994.
[0024373]14961.O'Brodovich, H. M.: Immature epithelial Na+ channel expression is one of the pathogenetic mechanisms leading to human neonatal respiratory distress syndrome. Proc. Assoc. Am. Phys. 108: 345-355, 1996.
[0024374]14962.Oh, Y. S.; Lee, S.-I.; Won, C.-K.; Warnock, D. G.: An Alu cassette in the human epithelial sodium channel. Biochim. Biophys. Acta 1520: 94-98, 2001.
[0024375]14963.Pathak, B. G.; Shaughnessy, J. D., Jr.; Meneton, P.; Greeb, J.; Shull, G. E.; Jenkins, N. A.; Copeland, N. G.: Mouse chromosomal location of three epithelial sodium channel subunit genes and an apical sodium chloride cotransporter gene. Genomics 33: 124-127, 1996.
[0024376]14964.Reddy, M. M.; Light, M. J.; Quinton, P. M.: Activation of the epithelial Na(+) channel (ENaC) requires CFTR CI(-) channel function. Nature 402: 301-304, 1999.
[0024377]14965.Rossier, B. C.: 1996 Homer Smith award lecture: Cum grano salis: the epithelial sodium channel and the control of blood pressure. J. Am. Soc. Nephrol. 8: 980-992, 1997.
[0024378]14966.Schaedel, C.; Marthinsen, L.; Kristoffersson, A.-C.; Kornfalt, R.; Nilsson, K. O.; Orlenius, B.; Holmberg, L.: Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the alpha-subunit of the epithelial sodium channel. J. Pediat. 135: 739-745, 1999.
[0024379]14967.Voilley, N.; Lingueglia, E.; Champigny, G.; Mattei, M.-G.; Waldmann, R.; Lazdunski, M.; Barbry, P.: The lung amiloride-sensitive Na(+) channel: biophysical properties, pharmacology, ontogenesis, and molecular cloning. Proc. Nat. Acad. Sci. 91: 247-251, 1994.
[0024380]14968.Arriza, J. L.; Kavanaugh, M. P.; Fairman, W. A.; Wu, Y.-N.; Murdoch, G. H.; North, R. A.; Amara, S. G.: Cloning and expression of a human neutral amino acid transporter with structural similarity to the glutamate transporter gene family. J. Biol. Chem. 268: 15329-15332, 1993.
[0024381]14969.Hofmann, K.; Duker, M.; Fink, T.; Lichter, P.; Stoffel, W.: Human neutral amino acid transporter ASCT1: structure of the gene (SLC1A4) and localization to chromosome 2p13-p15. Genomics 24: 20-26, 1994.
[0024382]14970.Shafqat, S.; Tamarappoo, B. K.; Kilberg, M. S.; Puranam, R. S.; McNamara, J. O.; Guadano-Ferraz, A.; Fremeau, R. T., Jr.: Cloning and expression of a novel Na(+)-dependent neutral amino acid transporter structurally related to mammalian Na(+)/glutamate cotransporters. J. Biol. Chem. 268: 15351-15355, 1993.
[0024383]14971.Zerangue, N.; Kavanaugh, M. P.: ASCT-1 is a neutral amino acid exchanger with chloride channel activity. J. Biol. Chem. 271: 27991-27994, 1996.
[0024384]14972.Fukuda, R.; McNew, J. A.; Weber, T.; Parlati, F.; Engel, T.; Nickel, W.; Rothman, J. E.; Sollner, T. H.: Functional architecture of an intracellular membrane t-SNARE. Nature 407: 198-202, 2000.
[0024385]14973.Grabs, D.; Bergmann, M.; Urban, M.; Post, A.; Gratzl, M.: Rab3 proteins and SNAP-25, essential components of the exocytosis machinery in conventional synapses, are absent from ribbon synapses of the mouse retina. Europ. J. Neurosci. 8: 162-168, 1996.
[0024386]14974.Zhao, N.; Hashida, H.; Takahashi, N.; Sakaki, Y.: Cloning and sequence analysis of the human SNAP25 cDNA. Gene 145: 313-314, 1994.
[0024387]14975.Newton, J. S.; Deed, R. W.; Mitchell, E. L. D.; Murphy, J. J.; Norton, J. D.: A B cell specific immediate early human gene is located on chromosome band 1q31 and encodes an alpha helical basic phosphoprotein. Biochim. Biophys. Acta 1216: 314-316, 1993.
[0024388]14976.Sierra, D. A.; Gilbert, D. J.; Householder, D.; Grishin, N. V.; Yu, K.; Ukidwe, P.; Barker, S. A.; He, W.; Wensel, T. G.; Otero, G.; Brown, G.; Copeland, N. G.; Jenkins, N. A.; Wilkie, T. M.: Evolution of the regulators of G-protein signaling multigene family in mouse and human. Genomics 79: 177-185, 2002.
[0024389]14977.Chiao, J. H.; Roy, K.; Tolner, B.; Yang, C.-H.; Sirotnak, F. M. : RFC-1 gene expression regulates folate absorption in mouse small intestine. J. Biol. Chem. 272: 11165-11170, 1997.
[0024390]14978.Nguyen, T. T.; Dyer, D. L.; Dunning, D. D.; Rubin, S. A.; Grant, K. E.; Said, H. M.: Human intestinal folate transport: cloning, expression, and distribution of complementary RNA. Gastroenterology 112: 783-791, 1997.
[0024391]14979.Prasad, P. D.; Ramamoorthy, S.; Leibach, F. H.; Ganapathy, V.: Molecular cloning of the human placental folate transporter. Biochem. Biophys. Res. Commun. 206: 681-687, 1995.
[0024392]14980.Shaw, G. M.; Lammer, E. J.; Zhu, H.; Baker, M. W.; Neri, E.; Finnell, R. H.: Maternal periconceptional vitamin use, genetic variation of infant reduced folate carrier (A80G), and risk of spina bifida. Am. J. Med. Genet. 108: 1-6, 2002.
[0024393]14981.Tolner, B.; Roy, K.; Sirotnak, F. M.: Structural analysis of the human RFC-1 gene encoding a folate transporter reveals multiple promoters and alternatively spliced transcripts with 5-prime end heterogeneity. Gene 211: 331-341, 1998.
[0024394]14982.Tse, A.; Brigle, K.; Taylor, S. M.; Moran, R. G.: Mutations in the reduced folate carrier gene which confer dominant resistance to 5,10-dideazatetrahydrofolate. J. Biol. Chem. 273: 25953-25960, 1998.
[0024395]14983.Williams, F. M. R.; Flintoff, W. F.: Structural organization of the human reduced folate carrier gene: evidence for 5-prime heterogeneity in lymphoblast mRNA. Somat. Cell Molec. Genet. 24: 143-156, 1998.
[0024396]14984.Williams, F. M. R.; Flintoff, W. F.: Isolation of a human cDNA that complements a mutant hamster cell defective in methotrexate uptake. J. Biol. Chem. 270: 2987-2992, 1995.
[0024397]14985.Wong, S. C.; Proefke, S. A.; Bhushan, A.; Matherly, L. H.: Isolation of human cDNAs that restore methotrexate sensitivity and reduced folate carrier activity in methotrexate transport-defective Chinese hamster ovary cells. J. Biol. Chem. 270: 17468-17475, 1995.
[0024398]14986.Yang-Feng, T. L.; Ma, Y.-Y.; Liang, R.; Prasad, P. D.; Leibach, F. H.; Ganapathy, V.: Assignment of the human folate transporter gene to chromosome 21q22.3 by somatic cell hybrid analysis and in situ hybridization. Biochem. Biophys. Res. Commun. 210: 874-879, 1995.
[0024399]14987.Lees, J. A.; Saito, M.; Vidal, M.; Valentine, M.; Look, T.; Harlow, E.; Dyson, N.; Helin, K.: The retinoblastoma protein binds to a family of E2F transcription factors. Molec. Cell. Biol. 13: 7813-7825, 1993.
[0024400]14988.Cloud, J. E.; Rogers, C.; Reza, T. L.; Ziebold, U.; Stone, J. R.; Picard, M. H.; Caron, A. M.; Bronson, R. T.; Lees, J. A.: Mutant mouse models reveal the relative roles of E2F1 and E2F3 in vivo. Molec. Cell. Biol. 22: 2663-2672, 2002.
[0024401]14989.He, Y.; Armanious, M. K.; Thomas, M. J.; Cress, W. D.: Identification of E2F-3B, an alternative form of E2F-3 lacking a conserved N-terminal region. Oncogene 19: 3422-3433, 2000.
[0024402]14990.Halford, M. M.; Armes, J.; Buchert, M.; Meskenaite, V.; Grail, D.; Hibbs, M. L.; Wilks, A. F.; Farlie, P. G.; Newgreen, D. F.; Hovens, C. M.; Stacker, S. A.: Ryk-deficient mice exhibit craniofacial defects associated with perturbed Eph receptor crosstalk. Nature Genet. 25: 414-418, 2000.
[0024403]14991.Nakamura, S.; Stock, D. W.; Wydner, K. L.; Bollekens, J. A.; Takeshita, K.; Nagai, B. M.; Chiba, S.; Kitamura, T.; Freeland, T. M.; Zhao, Z.; Minowada, J.; Lawrence, J. B.; Weiss, K. M.; Ruddle, F. H.: Genomic analysis of a new mammalian distal-less gene: Dlx7. Genomics 38: 314-324, 1996.
[0024404]14992.Adams, R. H.; Diella, F.; Hennig, S.; Helmbacher, F.; Deutsch, U.; Klein, R.: The cytoplasmic domain of the ligand ephrinB2 is required for vascular morphogenesis but not cranial neural crest migration. Cell 104: 57-69, 2001.
[0024405]14993.Bennett, B. D.; Zeigler, F. C.; Gu, Q.; Fendly, B.; Goddard, A. D.; Gillett, N.; Matthews, W.: Molecular cloning of a ligand for the EPH-related receptor protein-tyrosine kinase Htk. Proc. Nat. Acad. Sci. 92: 1866-1870, 1995.
[0024406]14994.Bonaldo, M. F.; Yu, M. T.; Jelenc, P.; Brown, S.; Su, L.; Lawton, L.; Deaven, L.; Efstratiadis, A.; Warburton, D.; Soares, M. B.: Selection of cDNAs using chromosome-specific genomic clones: application to human chromosome 13. Hum. Molec. Genet. 3: 1663-1673, 1994.
[0024407]14995.Cerretti, D. P.; Vanden Bos, T.; Nelson, N.; Kozlosky, C. J.; Reddy, P.; Maraskovsky, E.; Park, L. S.; Lyman, S. D.; Copeland, N. G.; Gilbert, D. J.; Jenkins, N. A.; Fletcher, F. A.: Isolation of LERK-5: a ligand of the EPH-related receptor tyrosine kinases. Molec. Immun. 32: 1197-1205, 1995.
[0024408]14996.Singh, J.; Itahana, Y.; Parrinello, S.; Murata, K.; Desprez, P.-Y. : Molecular cloning and characterization of a zinc finger protein involved in Id-1-stimulated mammary epithelial cell growth. J. Biol. Chem. 276: 11852-11858, 2001.
[0024409]14997.Kumar, S.; Kinoshita, M.; Noda, M.; Copeland, N. G.; Jenkins, N. A.: Induction of apoptosis by the mouse Nedd2 gene, which encodes a protein similar to the product of the Caenorhabditis elegans cell death gene ced-3 and the mammalian IL-1-beta-converting enzyme. Genes Dev. 8: 1613-1626, 1994.
[0024410]14998.Bollag, R. J.; Siegfried, Z.; Cebra-Thomas, J. A.; Garvey, N.; Davison, E. M.; Silver, L. M.: An ancient family of embryonically expressed mouse genes sharing a conserved protein motif with the T locus. Nature Genet. 7: 383-389, 1994.
[0024411]14999.Campbell, C.; Goodrich, K.; Casey, G.; Beatty, B.: Cloning and mapping of a human gene (TBX2) sharing a highly conserved protein motif with the Drosophila omb gene. Genomics 28: 255-260, 1995.
[0024412]15000.Campbell, C. E.; Casey, G.; Goodrich, K.: Genomic structure of TBX2 indicates conservation with distantly related T-box genes. Mammalian Genome 9: 70-73, 1998.
[0024413]15001.Jacobs, J. J. L.; Keblusek, P.; Robanus-Maandag, E.; Kristel, P.; Lingbeek, M.; Nederlof, P. M.; van Welsem, T.; van de Vijver, M. J.; Koh, E. Y.; Daley, G. Q.; van Lohuizen, M.: Senescence bypass screen identifies TBX2, which represses Cdkn2a(p19ARF) and is amplified in a subset of human breast cancers. Nature Genet. 26: 291-299, 2000.
[0024414]15002.Law, D. J.; Gebhur, T.; Garvey, N.; Agulnik, S. I.; Silver, L. M.: Identification, characterization, and localization to chromosome 17q21-22 of the human TBX2 homolog, member of a conserved developmental gene family. Mammalian Genome 6: 793-797, 1995.
[0024415]15003.Pflugfelder, G. O.; Roth, H.; Poeck, B.: A homology domain shared between Drosophila optomotor-blind and mouse Brachyury is involved in DNA binding. Biochem. Biophys. Res. Commun. 186: 918-925, 1992.
[0024416]15004.Sowden, J. C.; Holt, J. K. L.; Meins, M.; Smith, H. K.; Bhattacharya, S. S.: Expression of Drosophila omb-related T-box genes in the developing human and mouse neural retina. Invest. Ophthal. Vis. Sci. 42: 3095-3102, 2001.
[0024417]15005.Walter, L.; Dirks, B.; Rothermel, E.; Heyens, M.; Szpirer, C.; Levan, G.; Gunther, E.: A novel, conserved gene of the rat that is developmentally regulated in the testis. Mammalian Genome 5: 216-221, 1994.
[0024418]15006.Walter, L.; Marynen, P.; Szpirer, J.; Levan, G.; Gunther, E.: Identification of a novel conserved human gene, TEGT. Genomics 28: 301-304, 1995.
[0024419]15007.Xu, Q.; Reed, J. C.: Bax inhibitor-1, a mammalian apoptosis suppressor identified by functional screening in yeast. Molec. Cell 1: 337-346, 1998.
[0024420]15008.Hsu, Y.-C.; Perin, M. S.: Human neuronal pentraxin II (NPTX2): conservation, genomic structure, and chromosomal localization. Genomics 28: 220-227, 1995.
[0024421]15009.Schlimgen, A. K.; Helms, J. A.; Vogel, H.; Perin, M. S.: Neuronal pentraxin, a secreted protein with homology to acute phase proteins of the immune system. Neuron 14: 519-526, 1995.
[0024422]15010.Kumar, S.; White, D. L.; Takai, S.; Turczynowicz, S.; Juttner, C. A.; Hughes, T. P.: Apoptosis regulatory gene NEDD2 maps to human chromosome segment 7q34-35, a region frequently affected in haematological neoplasms. Hum. Genet. 95: 641-644, 1995.
[0024423]15011.Lassus, P.; Opitz-Araya, X.; Lazebnik, Y.: Requirement for caspase-2 in stress-induced apoptosis before mitochondrial permeabilization. Science 297: 1352-1354, 2002.
[0024424]15012.Fuhlbrigge, R. C.; Kieffer, J. D.; Armerding, D.; Kupper, T. S. : Cutaneous lymphocyte antigen is a specialized form of PSGL-1 expressed on skin-homing T cells. Nature 389: 978-981, 1997.
[0024425]15013.Herron, M. J.; Nelson, C. M.; Larson, J.; Snapp, K. R.; Kansas, G. S.; Goodman, J. L.: Intracellular parasitism by the human granulocytic ehrlichiosis bacterium through the P-selectin ligand, PSGL-1. Science 288: 1653-1656, 2000.
[0024426]15014.Veldman, G. M.; Bean, K. M.; Cumming, D. A.; Eddy, R. L.; Sait, S. N. J.; Shows, T. B.: Genomic organization and chromosomal localization of the gene encoding human P-selectin glycoprotein ligand. J. Biol. Chem. 270: 16470-16475, 1995.
[0024427]15015.Yang, J.; Galipeau, J.; Kozak, C. A.; Furie, B. C.; Furie, B.: Mouse P-selectin glycoprotein ligand-1: molecular cloning, chromosomal localization, and expression of a functional Pselectin receptor. Blood 87: 4176-4186, 1996.
[0024428]15016.Brown, C. B.; Boyer, A. S.; Runyan, R. B.; Barnett, J. V.: Requirement of type III TGF-beta receptor for endocardial cell transformation in the heart. Science 283: 2080-2082, 1999.
[0024429]15017.Lewis, K. A.; Gray, P. C.; Blount, A. L.; MacConell, L. A.; Wiater, E.; Bilezikjian, L. M.; Vale, W.: Betaglycan binds inhibin and can mediate functional antagonism of activin signalling. Nature 404: 411-414, 2000.
[0024430]15018.Hu, Y.-F.; Luscher, B.; Admon, A.; Mermod, N.; Tjian, R.: Transcription factor AP-4 contains multiple dimerization domains that regulate dimer specificity. Genes Dev. 4: 1741-1752, 1990.
[0024431]15019.Mermod, N.; Williams, T. J.; Tjian, R.: Enhancer binding factors AP-4 and AP-1 act in concert to activate SV40 late transcription in vitro. Nature 332: 557-561, 1988.
[0024432]15020.Carr, C. S.; Sharp, P. A.: A helix-loop-helix protein related to the immunoglobulin E box-binding proteins. Molec. Cell. Biol. 10: 4384-4388, 1990.
[0024433]15021.Bonner, C. A.; Loftus, S. K.; Wasmuth, J. J.: Isolation, characterization, and precise physical localization of human CDX1, a caudal-type homeobox gene. Genomics 28: 206-211, 1995.
[0024434]15022.Subramanian, V.; Meyer, B. I.; Gruss, P.: Disruption of the murine homeobox gene Cdx1 affects axial skeletal identities by altering the mesodermal expression domains of Hox genes. Cell 83: 641-653, 1995.
[0024435]15023.Schwientek, T.; Nomoto, M.; Levery, S. B.; et al: Control of O-glycan branch formation. J. Biol. Chem. 274: 4504-4512, 1999.
[0024436]15024.Walczak, H.; Degli-Esposti, M. A.; Johnson, R. S.; Smolak, P. J.; Waugh, J. Y.; Boiani, N.; Timour, M. S.; Gerhart, M. J.; Schooley, K. A.; Smith, C. A.; Goodwin, R. G.; Rauch, C. T.: TRAIL-R2: a novel apoptosis-mediating receptor for TRAIL. EMBO J. 16: 5386-5397, 1997.
[0024437]15025.Wu, G. S.; Burns, T. F.; McDonald, E. R., III; Jiang, W.; Meng, R.; Krantz, I. D.; Kao, G.; Gan, D.-D.; Zhou, J.-Y.; Muschel, R.; Hamilton, S. R.; Spinner, N. B.; Markowitz, S.; Wu, G.; El-Deiry, W. S.: KILLER/DR5 is a DNA damage-inducible p53-regulated death receptor gene. Nature Genet. 17: 141-143, 1997.
[0024438]15026.Degli-Esposti, M. A.; Smolak, P. J.; Walczak, H.; Waugh, J.; Huang, C.-P.; DuBose, R. F.; Goodwin, R. G.; Smith, C. A.: Cloning and characterization of TRAIL-R3, a novel member of the emerging TRAIL receptor family. J. Exp. Med. 186: 1165-1170, 1997.
[0024439]15027.Kanaar, R.; Troelstra, C.; Swagemakers, S. M. A.; Essers, J.; Smit, B.; Franssen, J.-H.; Pastink, A.; Bezzubova, O. Y.; Buerstedde, J.-M.; Clever, B.; Heyer, W.-D.; Hoeijmakers, J. H. J.: Human and mouse homologs of the Saccharomyces cerevisiae RAD54 DNA repair gene: evidence for functional conservation. Curr. Biol. 6: 828-838, 1996.
[0024440]15028.Matsuda, M.; Miyagawa, K.; Takahashi, M.; Fukuda, T.; Kataoka, T.; Asahara, T.; Inui, H.; Watatani, M.; Yasutomi, M.; Kamada, N.; Dohi, K.; Kamiya, K.: Mutations in the RAD54 recombination gene in primary cancers. Oncogene 18: 3427-3430, 1999.
[0024441]15029.Tucker, J. E.; Winkfein, R. J.; Cooper, C. B.; Schnetkamp, P. P. : cDNA cloning of the human retinal rod Na-Ca + K exchanger: comparison with a revised bovine sequence. Invest. Ophthal. Vis. Sci. 39: 435-440, 1998.
[0024442]15030.Tucker, J. E.; Winkfein, R. J.; Murthy, S. K.; Friedman, J. S.; Walter, M. A.; Demetrick, D. J.; Schnetkamp, P. P. M.: Chromosomal localization and genomic organization of the human retinal rod Na-Ca+K exchanger. Hum. Genet. 103: 411-414, 1998.
[0024443]15031.Dennis, J. A.; Healy, P. J.; Beaudet, A. L.; O'Brien, W. E.: Molecular definition of bovine argininosuccinate synthetase deficiency. Proc. Nat. Acad. Sci. 86: 7947-7951, 1989.
[0024444]15032.McCarrey, J. R.; Riggs, A. D.: Determinator-inhibitor pairs as a mechanism for threshold setting in development: a possible function for pseudogenes. Proc. Nat. Acad. Sci. 83: 679-683, 1986.
[0024445]15033.Su, T.-S.; Nussbaum, R. L.; Airhart, S.; Ledbetter, D. H.; Mohandas, T.; O'Brien, W. E.; Beaudet, A. L.: Human chromosomal assignments for 14 argininosuccinate synthetase pseudogenes: cloned DNAs as reagents for cytogenetic analysis. Am. J. Hum. Genet. 36: 954-964, 1984.
[0024446]15034.Kobayashi, K.; Sinasac, D. S.; Iijima, M.; Boright, A. P.; Begum, L.; Lee, J. R.; Yasuda, T.; Ikeda, S.; Hirano, R.; Terazono, H.; Crackower, M. A.; Kondo, I.; Tsui, L.-C.; Scherer, S. W.; Saheki, T.: The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. Nature Genet. 22: 159-163, 1999.
[0024447]15035.Saheki, T.; Kobayashi, K.: Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD). J. Hum. Genet. 47: 333-341, 2002.
[0024448]15036.Hara, Y.; Wakamori, M.; Ishii, M.; Maeno, E.; Nishida, M.; Yoshida, T.; Yamada, H.; Shimizu, S.; Mori, E.; Kudoh, J.; Shimizu, S.; Kurose, H.; Okada, Y.; Imoto, K.; Mori, Y.: LTRPC2 Ca(2+)-permeable channel activated by changes in redox status confers susceptibility to cell death. Molec. Cell 9: 163-173, 2002.
[0024449]15037.Harteneck, C.; Plant, T. D.; Schultz, G.: From worm to man: three subfamilies of TRP channels. Trends Neurosci. 23: 159-166, 2000.
[0024450]15038.Kudoh, J.; Nagamine, K.; Asakawa, S.; Abe, I.; Kawasaki, K.; Maeda, H.; Tsujimoto, S.; Minoshima, S.; Ito, F.; Shimizu, N.: Localization of 16 exons to a 450-kb region involved in the autoimmune polyglandular disease type I (APECED) on human chromosome 21q22.3. DNA Res. 4: 45-52, 1997.
[0024451]15039.Nagamine, K.; Kudoh, J.; Minoshima, S.; Kawasaki, K.; Asakawa, S.; Ito, F.; Shimizu, N.: Molecular cloning of a novel putative Ca(2+) channel protein (TRPC7) highly expressed in brain. Genomics 54: 124-131, 1998.
[0024452]15040.Perraud, A.-L.; Fleig, A.; Dunn, C. A.; Bagley, L. A.; Launay, P.; Schmitz, C.; Stokes, A. J.; Zhu, Q.; Bessman, M. J.; Penner, R.; Kinet, J.-P.; Scharenberg, A. M.: ADP-ribose gating of the calcium-permeable LTRPC2 channel revealed by Nudix motif homology. Nature 411: 595-599, 2001.
[0024453]15041.Sano, Y.; Inamura, K.; Miyake, A.; Mochizuki, S.; Yokoi, H.; Matsushime, H.; Furuichi, K.: Immunocyte Ca(2+) influx system mediated by LTRPC2. Science 293: 1327-1330, 2001.
[0024454]15042.Koyama, N.; Ishibashi, K.; Kuwahara, M.; Inase, N.; Ichioka, M.; Sasaki, S.; Marumo, F.: Cloning and functional expression of human aquaporin8 cDNA and analysis of its gene. Genomics 54: 169-172, 1998.
[0024455]15043.Viggiano, L.; Rocchi, M.; Svelto, M.; Calamita, G.: Assignment of the aquaporin-8 water channel gene (AQP8) to human chromosome 16p12. Cytogenet. Cell Genet. 84: 208-210, 1999.
[0024456]15044.Sperandeo, M. P.; Borsani, G.; Incerti, B.; Zollo, M.; Rossi, E.; Zuffardi, O.; Castaldo, P.; Taglialatela, M.; Andria, G.; Sebastio, G.: The gene encoding a cationic amino acid transporter (SLC7A4) maps to the region deleted in the velocardiofacial syndrome. Genomics 49: 230-236, 1998.
[0024457]15045.Koegl, M.; Hoppe, T.; Schlenker, S.; Ulrich, H. D.; Mayer, T. U.; Jentsch, S.: A novel ubiquitination factor, E4, is involved in multiubiquitin chain assembly. Cell 96: 635-644, 1999.
[0024458]15046.Nonaka, S.; Tanaka, Y.; Okada, Y.; Takeda, S.; Harada, A.; Kanai, Y.; Kido, M.; Hirokawa, N.: Randomization of left-right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein. Cell 95: 829-837, 1998.
[0024459]15047.Yamazaki, H.; Nakata, T.; Okada, Y.; Hirokawa, N.: KIF3A/B: a heterodimeric kinesin superfamily protein that works as a microtubule plus end-directed motor for membrane organelle transport. J. Cell Biol. 130: 1387-1399, 1995.
[0024460]15048.Suzuki, N.; Zara, J.; Sato, T.; Ong, E.; Bakhiet, N.; Oshima, R. G.; Watson, K. L.; Fukuda, M. N.: A cytoplasmic protein, bystin, interacts with trophinin, tastin, and cytokeratin and may be involved in trophinin-mediated cell adhesion between trophoblast and endometrial epithelial cells. Proc. Nat. Acad. Sci. 95: 5027-5032, 1998.
[0024461]15049.Hurskainen, T. L.; Hirohata, S.; Seldin, M. F.; Apte, S. S.: ADAM-TS5, ADAM-TS6, and ADAM-TS7, novel members of a new family of zinc metalloproteases: general features and genomic distribution of the ADAM-TS family. J. Biol. Chem. 274: 25555-25563, 1999.
[0024462]15050.Tang, B. L.; Hong, W.: ADAMTS: a novel family of proteases with an ADAM protease domain and thrombospondin 1 repeats. FEBS Lett. 445: 223-225, 1999.
[0024463]15051.Tortorella, M. D.; Burn, T. C.; Pratta, M. A.; Abbaszade, I.; Hollis, J. M.; Liu, R.; Rosenfeld, S. A.; Copeland, R. A.; Decicco, C. P.; Wynn, R.; Rockwell, A.; Yang, F.; and 16 others: Purification and cloning of aggrecanase-1: a member of the ADAMTS family of proteins. Science 284: 1664-1666, 1999.
[0024464]15052.Shiratsuchi, T.; Oda, K.; Nishimori, H.; Suzuki, M.; Takahashi, E.; Tokino, T.; Nakamura, Y.: Cloning and characterization of BAP3 (BAI-associated protein 3), a C2 domaincontaining protein that interacts with BAI1. Biochem. Biophys. Res. Commun. 251: 158-165, 1998.
[0024465]15053.Almeida, R.; Amado, M.; David, L.; Levery, S. B.; Holmes, E. H.; Merkx, G.; Geurts van Kessel, A.; Rygaard, E.; Hassan, H.; Bennett, E.; Clausen, H.: A family of human beta-4-galactosyltransferases: cloning and expression of two novel UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferases, beta-4-Gal-T2 and beta-4-Gal-T3. J. Biol. Chem. 272: 31979-31991, 1997.
[0024466]15054.Sato, T.; Furukawa, K.; Bakker, H.; Van den Eijnden, D. H.; Van Die, I.: Molecular cloning of a human cDNA encoding beta-1,4-galactosyltransferase with 37% identity to mammalian UDP-Gal:GlcNAc beta-1,4-galactosyltransferase. Proc. Nat. Acad. Sci. 95: 472-477, 1998.
[0024467]15055.Shaper, N.: Personal Communication. Baltimore, Md. 11/2/1999.
[0024468]15056.Gundelfinger, E.: Personal Communication. Madgeburg, FRG. 1/8/1999.
[0024469]15057.Hashida, H.; Goto, J.; Zhao, N.; Takahashi, N.; Hirai, M.; Kanazawa, I.; Sakaki, Y.: Cloning and mapping of ZNF231, a novel brain-specific gene encoding neuronal double zinc finger protein whose expression is enhanced in a neurodegenerative disorder, multiple system atrophy (MSA). Genomics 54: 50-58, 1998.
[0024470]15058.Sparks, A. B.; Peterson, S. N.; Bell, C.; Loftus, B. J.; Hocking, L.; Cahill, D. P.; Frassica, F. J.; Streeten, E. A.; Levine, M. A.; Fraser, C. M.; Adams, M. D.; Broder, S.; Venter, J. C.; Vogelstein, B.; Ralston, S. H.: Mutation screening of the TNFRSF11A gene encoding receptor activator of NF-kappa-B (RANK) in familial and sporadic Paget's disease of bone and osteosarcoma. Calcif. Tissue Int. 68: 151-155, 2001.
[0024471]15059.Santorelli, F. M.; Patrono, C.; Fortini, D.; Tessa, A.; Comanducci, G.; Bertini, E.; Pierallini, A.; Amabile, G. A.; Casali, C.: Intrafamilial variability in hereditary spastic paraplegia associated with an SPG4 gene mutation. Neurology 55: 702-705, 2000.
[0024472]15060.Sauter, S.; Miterski, B.; Klimpe, S.; Bonsch, D.; Schols, L.; Visbeck, A.; Papke, T.; Hopf, H. C.; Engel, W.; Deufel, T.; Epplen, J. T.; Neesen, J.: Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia. Hum. Mutat. 20: 127-132, 2002.
[0024473]15061.Svenson, I. K.; Ashley-Koch, A. E.; Pericak-Vance, M. A.; Marchuk, D. A.: A second leaky splice-site mutation in the spastin gene. (Letter) Am. J. Hum. Genet. 69: 1407-1409, 2001.
[0024474]15062.Flannery, C. R.; Hughes, C. E.; Schumacher, B. L.; Tudor, D.; Aydelotte, M. B.; Kuettner, K. E.; Caterson, B.: Articular cartilage superficial zone protein (SZP) is homologous to megakaryocyte stimulating factor precursor and is a multifunctional proteoglycan with potential growthpromoting, cytoprotective, and lubricating properties in cartilage metabolism. Biochem. Biophys. Res. Commun. 254: 535-541, 1999.
[0024475]15063.Ikegawa, S.; Sano, M.; Koshizuka, Y.; Nakamura, Y.: Isolation, characterization and mapping of the mouse and human PRG4 (proteoglycan 4) genes. Cytogenet. Cell Genet. 90: 291-297, 2000.
[0024476]15064.Merberg, D. M.; Fitz, L. J.; Temple, P.; Giannotti, J.; Murtha, P.; Fitzgerald, M.; Scaltreto, H.; Kelleher, K.; Preissner, K.; Kriz, R.; Jacobs, K.; Turner, K.: In: Preissner, K. T.; Rosenblatt, S.; Kost, C.; Wegerhoff, J.; Mosher, D. F. (eds.): Biology of Vitronectins and Their Receptors. Elsevier Science, B.V. 1993. Pp. 45-53.
[0024477]15065.Schumacher, B. L.; Block, J. A.; Schmid, T. M.; Aydelotte, M. B.; Kuettner, K. E.: A novel proteoglycan synthesized and secreted by chondrocytes of the superficial zone of articular cartilage. Arch. Biochem. Biophys. 15: 144-152, 1994.
[0024478]15066.Pfeiffer, R.; et al; et al: Amino acid transport of y(0,+)L-type by heterodimers of 4F2hc/CD98 and members of the glycoprotein-associated amino acid transporter family. EMBO J. 18: 49-57, 1999.
[0024479]15067.Pineda, M.; et al.; et al: Identification of a membrane protein (LAT-2) that co-expresses with 4F2hc an L type amino acid transport activity with broad specificity for small and large zwitterionic amino acids. J. Biol. Chem. 274: 19738-19744, 1999.
[0024480]15068.Sato, H.; Tamba, M.; Ishii, T.; Bannai, S.: Cloning and expression of a plasma membrane cystine/glutamate exchange transporter composed of two distinct proteins. J. Biol. Chem. 274: 11455-11458, 1999.
[0024481]15069.Torrents, D.; et al.; et al: Identification and characterization of a membrane protein (y+L amino acid transporter-1) that associates with 4F2hc to encode the amino acid transport activity y+L: a candidate gene for lysinuric protein intolerance. J. Biol. Chem. 273: 32437-32445, 1998.
[0024482]15070.Dominguez, A.; Ramos-Morales, F.; Romero F.; Rios R. M.; Dreyfus, F.; Tortolero, M.; Pintor-Toro, J. A.: hpttg, a human homologue of rat pttg, is overexpressed in hematopoietic neoplasms: evidence for a transcriptional activation function of hPTTG. Oncogene 17: 2187-2193, 1998.
[0024483]15071.Ishikawa, H.; Heaney, A. P.; Yu, R.; Horwitz, G. A.; Melmed, S. : Human pituitary tumor-transforming gene induces angiogenesis. J. Clin. Endocr. Metab. 86: 867-874, 2001.
[0024484]15072.Jallepalli, P. V.; Waizenegger, I. C.; Bunz, F.; Langer, S.; Speicher, M. R.; Peters, J.-M.; Kinzler, K. W.; Vogelstein, B.; Lengauer, C. : Securin is required for chromosomal stability in human cells. Cell 105: 445-457, 2001.
[0024485]15073.Kakar, S. S.: Assignment of the human tumor transforming gene TUTR1 to chromosome band 5q35.1 by fluorescence in situ hybridization. Cytogenet. Cell Genet. 83: 93-95, 1998.
[0024486]15074.Pei, L.: Pituitary tumor-transforming gene protein associates with ribosomal protein S10 and a novel human homologue of DnaJ in testicular cells. J. Biol. Chem. 274: 3151-3158, 1999.
[0024487]15075.Wang, Z.; Yu, R.; Melmed, S.: Mice lacking pituitary tumor transforming gene show testicular and splenic hypoplasia, thymic hyperplasia, thrombocytopenia, aberrant cell cycle progression, and premature centromere division. Molec. Endocr. 15: 1870-1879, 2001. 1. Dominguez, A.; Ramos-Morales, F.; Romero, F.; Rios, R. M.; Dreyfus,
[0024488]15076.Yu, R.; Ren, S.-G.; Horwitz, G. A.; Wang, Z.; Melmed, S.: Pituitary tumor transforming gene (PTTG) regulates placental JEG-3 cell division and survival: evidence from live cell imaging. Molec. Endocr. 14: 1137-1146, 2000.
[0024489]15077.Zhang, X.; Horwitz, G. A.; Heaney, A. P.; Nakashima, M.; Prezant, T. R.; Bronstein, M. D.; Melmed, S.: Pituitary tumor transforming gene (PTTG) expression in pituitary adenomas. J. Clin. Endocr. Metab. 84: 761-767, 1999.
[0024490]15078.Zhang, X.; Horwitz, G. A.; Prezant, T. R.; Valentini, A.; Nakashima, M.; Bronstein, M. D.; Melmed, S.: Structure, expression, and function of human pituitary tumor-transforming gene (PTTG). Molec. Endocr. 13: 156-166, 1999.
[0024491]15079.Pennica, D.; Swanson, T. A.; Welsh, J. W.; Roy, M. A.; Lawrence, D. A.; Lee, J.; Brush, J.; Taneyhill, L. A.; Deuel, B.; Lew, M.; Watanabe, C.; Cohen, R. L.; Melhem, M. F.; Finley, G. G.; Quirke, P.; Goddard, A. D.; Hillan, K. J.; Gurney, A. L.; Botstein, D.; Levine, A. J.: WISP genes are members of the connective tissue growth factor family that are up-regulated in Wnt-1-transformed cells and aberrantly expressed in human colon tumors. Proc. Nat. Acad. Sci. 95: 14717-14722, 1998.
[0024492]15080.Tanaka, S.; Sugimachi, K.; Saeki, H.; Kinoshita, J.; Ohga, T.; Shimada, M.; Maehara, Y.; Sugimachi, K.: A novel variant of WISP1 lacking a von Willebrand type C module overexpressed in scirrhous gastric carcinoma. Oncogene 20: 5525-5532, 2001.
[0024493]15081.Feng, L.; Novak, E. K.; Hartnell, L. M.; Bonifacino, J. S.; Collinson, L. M.; Swank, R. T.: The Hermansky-Pudlak syndrome 1 (HPS1) and HPS2 genes independently contribute to the production and function of platelet dense granules, melanosomes, and lysosomes. Blood 99: 1651-1658, 2002.
[0024494]15082.Vanhooren, J. C. T.; Marynen, P.; Mannaerts, G. P.; Van Veldhoven, P. P.: Evidence for the existence of a pristanoyl-CoA oxidase gene in man. Biochem. J. 325: 593-599, 1997.
[0024495]15083.Gee, S.; Krauss, S. W.; Miller, E.; Aoyagi, K.; Arenas, J.; Conboy, J. G.: Cloning of mDEAH9, a putative RNA helicase and mammalian homologue of Saccharomyces cerevisiae splicing factor Prp43. Proc. Nat. Acad. Sci. 94: 11803-11807, 1997.
[0024496]15084.Imamura, O.; Sugawara, M.; Furuichi, Y.: Cloning and characterization of a putative human RNA helicase gene of the DEAH-box protein family. Biochem. Biophys. Res. Commun. 240: 335-340, 1997.
[0024497]15085.Del Mastro, R. G.; Wang, L.; Simmons, A. D.; Gallardo, T. D.; Clines, G. A.; Ashley, J. A.; Hilliard, C. J.; Wasmuth, J. J.; McPherson, J. D.; Lovett, M.: Human chromosome-specific cDNA libraries: new tools for gene identification and genome annotation. Genome Res. 5: 185-194, 1995.
[0024498]15086.Sano, K.; Tanihara, H.; Heimark, R. L.; Obata, S.; Davidson, M.; St. John, T.; Taketani, S.; Suzuki, S.: Protocadherins: a large family of cadherin-related molecules in central nervous system. EMBO J. 12: 2249-2256, 1993.
[0024499]15087.Frigerio, J.-M.; Berthezene, P.; Garrido, P.; Ortiz, E.; Barthellemy, S.; Vasseur, S.; Sastre, B.; Seleznieff, I.; Dagorn, J. C.; Iovanna, J. L.: Analysis of 2166 clones from a human colorectal cancer cDNA library by partial sequencing. Hum. Molec. Genet. 4: 37-43, 1995.
[0024500]15088.Frigerio, J.-M.; Dagorn, J.-C.; Iovanna, J. L.: Cloning, sequencing and expression of the L5, L21, L27a, L28, S5, S9, S10 and S29 human ribosomal protein mRNAs. Biochim. Biophys. Acta 1262: 64-68, 1995.
[0024501]15089.Dominguez, O.; Ashhab, Y.; Sabater, L.; Belloso, E.; Caro, P.; Pujol-Borrell, R.: Cloning of ARE-containing genes by AU-motif-directed display. Genomics 54: 278-286, 1998.
[0024502]15090.Kostrub, C. F.; Knudsen, K.; Subramani, S.; Enoch, T.: Hus1p, a conserved fission yeast checkpoint protein, interacts with Rad1p and is phosphorylated in response to DNA damage. EMBO J. 17: 2055-2066, 1998.
[0024503]15091.Lieberman, H. B.; Hopkins, K. M.; Nass, M.; Demetrick, D.; Davey, S.: A human homolog of the Schizosaccharomyces pombe rad9+ checkpoint control gene. Proc. Nat. Acad. Sci. 93: 13890-13895, 1996.
[0024504]15092.Stocker, M.; Kerschensteiner, D.: Cloning and tissue distribution of two new potassium channel alpha-subunits from rat brain. Biochem. Biophys. Res. Commun. 248: 927-934, 1998.
[0024505]15093.Seki, N.; Hattori, A.; Hayashi, A.; Kozuma, S.; Hori, T.; Saito, T.: The human regulator of G-protein signaling protein 6 gene (RGS6) maps between markers WI-5202 and D14S277 on chromosome 14q24.3. J. Hum. Genet. 44: 138-140, 1999.
[0024506]15094.Leegwater, P. A. J.; Konst, A. A. M.; Kuyt, B.; Sandkuijl, L. A.; Naidu, S.; Oudejans, C. B. M.; Schutgens, R. B. H.; Pronk, J. C.; van der Knaap, M. S.: The gene for leukoencephalopathy with vanishing white matter is located on chromosome 3q27. Am. J. Hum. Genet. 65: 728-734, 1999.
[0024507]15095.tom Dieck, S.; Sanmarti-Vila, L.; Langnaese, K.; Richter, K.; Kindler, S.; Soyke, A.; Wex, H.; Smalla, K.-H.; Kampf, U.; Franzer, J.-T.; Stumm, M.; Garner, C. C.; Gundelfinger, E. D.: Bassoon, a novel zinc-finger CAG/glutamine-repeat protein selectively localized at the active zone of presynaptic nerve terminals. J. Cell Biol. 142: 499-509, 1998.
[0024508]15096.George, A. L., Jr.; Komisarof, J.; Kallen, R. G.; Barchi, R. L. : Primary structure of the adult human skeletal muscle voltage-dependent sodium channel. Ann. Neurol. 31: 131-137, 1992.
[0024509]15097.Heine, R.; Pika, U.; Lehmann-Horn, F.: A novel SCN4A mutation causing myotonia aggravated by cold and potassium. Hum. Molec. Genet. 2: 1349-1353, 1993.
[0024510]15098.Meyer-Kleine, C.; Otto, M.; Zoll, B.; Koch, M. C.: Molecular and genetic characterization of German families with paramyotonia congenita and demonstration of founder effect in the Ravensberg families. Hum. Genet. 93: 707-710, 1994.
[0024511]15099.Orrell, R. W.; Jurkat-Rott, K.; Lehmann-Horn, F.; Lane, R. J. M.: Familial cramp due to potassium-aggravated myotonia. J. Neurol. Neurosurg. Psychiat. 65: 569-572, 1998.
[0024512]15100.Rojas, C. V.: Personal Communication. Pittsburgh, Pa. 2/6/1992.
[0024513]15101.Rojas, C. V.; Wang, J.; Schwartz, L. S.; Hoffman, E. P.; Powell, B. R.; Brown, R. H., Jr.: A met-to-val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis. Nature 354: 387-389, 1991.
[0024514]15102.Winter, c.; tom Dieck, S.; Boeckers, T. M.; Bockmann, J.; Kampf, U.; Sanmarti-Vila, L.; Langnaese, K.; Altrock, W.; Stumm, M.; Soyke, A.; Wieacker, P.; Garner, C. C.; Gundelfinger, E. D.: The presynaptic cytomatrix protein Bassoon: sequence and chromosomal localization of the human BSN gene. Genomics 57: 389-397, 1999.
[0024515]15103.Bui, T. D.; Levy, E. R.; Subramaniam, V. N.; Lowe, S. L.; Hong, W.: cDNA characterization and chromosomal mapping of human Golgi SNARE GS27 and GS28 to chromosome 17. Genomics 57: 285-288, 1999.
[0024516]15104.Lowe, S. L.; Peter, F.; Subramaniam, V. N.; Wong, S. H.; Hong, W.: A SNARE involved in protein transport through the Golgi apparatus. Nature 389: 881-884, 1997.
[0024517]15105.Nagahama, M.; Orci, L.; Ravazzola, M.; Amherdt, M.; Lacomis, L.; Tempst, P.; Rothman, J. E.; Sollner, T. H.: A v-SNARE implicated in intra-Golgi transport. J. Cell Biol. 133: 507-516, 1996.
[0024518]15106.Subramaniam, V. N.; Peter, F.; Philp, R.; Wong, S. H.; Hong, W. : GS28, a 28-kilodalton Golgi SNARE that participates in ER-Golgi transport. Science 272: 1161-1163, 1996.
[0024519]15107.Hay, J. C.; Chao, D. S.; Kuo, C. S.; Scheller, R. H.: Protein interactions regulating vesicle transport between the endoplasmic reticulum and Golgi apparatus in mammalian cells. Cell 89: 149-158, 1997.
[0024520]15108.Li, J.; Ding, S.-F.; Habib, N. A.; Fermor, B. F.; Wood, C. B.; Gilmour, R. S.: Partial characterization of a cDNA for human stearoyl-CoA desaturase and changes in its mRNA expression in some normal and malignant tissues. Int. J. Cancer 57: 348-352, 1994.
[0024521]15109.Ntambi, J. M.; Miyazaki, M.; Stoehr, J. P.; Lan, H.; Kendziorski, C. M.; Yandell, B. S.; Song, Y.; Cohen, P.; Friedman, J. M.; Attie, A. D.: Loss of stearoyl-CoA desaturase-1 function protects mice against adiposity. Proc. Nat. Acad. Sci. 99: 11482-11486, 2002.
[0024522]15110.Thiede, M. A.; Ozols, J.; Strittmatter, P.: Construction and sequence of cDNA for rat liver stearyl coenzyme A desaturase. J. Biol. Chem. 261: 13230-13235, 1986.
[0024523]15111.Zhang, L.; Ge, L.; Parimoo, S.; Stenn, K.; Prouty, S. M.: Human stearoyl-CoA desaturase: alternative transcripts generated from a single gene by usage of tandem polyadenylation sites. Biochem. J. 340: 255-264, 1999.
[0024524]15112.Zheng, Y.; Eilertsen, K. J.; Ge, L.; Zhang, L.; Sundberg, J. P.; Prouty, S. M.; Stenn, K. S.; Parimoo, S.: Scd1 is expressed in sebaceous glands and is disrupted in the asebia mouse. (Letter) Nature Genet. 23: 268-270, 1999.
[0024525]15113.Harding, H. P.; Zeng, H.; Zhang, Y.; Jungries, R.; Chung, P.; Plesken, H.; Sabatini, D. D.; Ron, D.: Diabetes mellitus and exocrine pancreatic dysfunction in Perk -/- mice reveals a role for translational control in secretory cell survival. Molec. Cell 7: 1153-1163, 2001.
[0024526]15114.Harding, H. P.; Zhang, Y.; Bertolotti, A.; Zeng, H.; Ron, D.: Perk is essential for translational regulation and cell survival during the unfolded protein response. Molec. Cell 5: 897-904, 2000.
[0024527]15115.Duh, F.-M.; Latif, F.; Weng, Y.; Geil, L.; Modi, W.; Stackhouse, T.; Matsumura, F.; Duan, D. R.; Linehan, W. M.; Lerman, M. I.; Gnarra, J. R.: cDNA cloning and expression of the human homolog of the sea urchin fascin and Drosophila singed genes which encodes an actin-bundling protein. DNA Cell Biol. 13: 821-827, 1994.
[0024528]15116.Mosialos, G.; Birkenbach, M.; Ayehunie, S.; Matsumura, F.; Pinkus, G. S.; Kieff, E.; Langhoff, E.: Circulating human dendritic cells differentially express high levels of a 55-kd actinbundling protein. Am. J. Path. 148: 593-600, 1996.
[0024529]15117.Ono, S.; Yamakita, Y.; Yamashiro, S.; Matsudaira, P. T.; Gnarra, J. R.; Obinata, T.; Matsumura, F.: Identification of an actin binding region and a protein kinase C phosphorylation site on human fascin. J. Biol. Chem. 272: 2527-2533, 1997.
[0024530]15118.Pinkus, G. S.; Pinkus, J. L.; Langhoff, E.; Matsumura, F.; Yamashiro, S.; Mosialos, G.; Said, J. W.: Fascin, a sensitive new marker for Reed-Sternberg cells of Hodgkin's disease: evidence for a dendritic or B cell derivation? Am. J. Path. 150: 543-562, 1997.
[0024531]15119.Sonderbye, L.; Magerstadt, R.; Blatman, R. N.; Preffer, F. I.; Langhoff, E.: Selective expression of human fascin (p55) by dendritic leukocytes. Adv. Exp. Med. Biol. 471: 41-46, 1997.
[0024532]15120.Yamakita, Y.; Ono, S.; Matsumura, F.; Yamashiro, S.: Phosphorylation of human fascin inhibits its actin binding and bundling activities. J. Biol. Chem. 271: 12632-12638, 1996.
[0024533]15121.Yamashiro-Matsumura, S.; Matsumura, F.: Intracellular localization of the 55-kD actin-bundling protein in cultured cells: spatial relationships with actin, alpha-actinin, tropomyosin, and fimbrin. J. Cell Biol. 103: 631-640, 1986.
[0024534]15122.Yamashiro-Matsumura, S.; Matsumura, F.: Purification and characterization of an Factin-bundling 55-kilodalton protein from HeLa cells. J. Biol. Chem. 260: 5087-5097, 1985.
[0024535]15123.Gibbs, P. E. M.; McGregor, W. G.; Maher, V. M.; Nisson, P.; Lawrence, C. W.: A human homolog of the Saccharomyces cerevisiae REV3 gene, which encodes the catalytic subunit of DNA polymerase zeta. Proc. Nat. Acad. Sci. 95: 6876-6880, 1998.
[0024536]15124.Morelli, C.; Mungall, A. J.; Negrini, M.; Barbanti-Brodano, G.; Croce, C. M.: Alternative splicing, genomic structure, and fine chromosome localization of REV3L. Cytogenet. Cell Genet. 83: 18-20, 1998.
[0024537]15125.Xiao, W.; Lechler, T.; Chow, B. L.; Fontanie, T.; Agustus, M.; Carter, K. C.; Wei, Y.-F.: Identification, chromosomal mapping and tissue-specific expression of hREV3 encoding a putative human DNA polymerase zeta. Carcinogenesis 19: 945-949, 1998.
[0024538]15126.Kahn, M. L.; Zheng, Y.-W.; Huang, W.; Bigornia, V.; Zeng, D.; Moff, S.; Farese, R. V., Jr.; Tam, C.; Coughlin, S. R.: A dual thrombin receptor system for platelet activation. Nature 394: 690-694, 1998.
[0024539]15127.Xu, W.-F.; Andersen, H.; Whitmore, T. E.; Presnell, S. R.; Yee, D. P.; Ching, A.; Gilbert, T.; Davie, E. W.; Foster, D. C.: Cloning and characterization of human protease-activated receptor 4. Proc. Nat. Acad. Sci. 95: 6642-6646, 1998.
[0024540]15128.Santoro, B.; Grant, S. G. N.; Bartsch, D.; Kandel, E. R.: Interactive cloning with the SH3 domain of N-src identifies a new brain specific ion channel protein, with homology to Eag and cyclic nucleotide-gated channels. Proc. Nat. Acad. Sci. 94: 14815-14820, 1997.
[0024541]15129.Santoro, B.; Liu, D. T.; Yao, H.; Bartsch, D.; Kandel, E. R.; Siegelbaum, S. A.; Tibbs, G. R.: Identification of a gene encoding a hyperpolarization-activated pacemaker channel of brain. Cell 93: 717-729, 1998.
[0024542]15130.Wainger, B. J.; DeGennaro, M.; Santoro, B.; Siegelbaum, S. A.; Tibbs, G. R.: Molecular mechanism of cAMP modulation of HCN pacemaker channels. Nature 411: 805-810, 2001.
[0024543]15131.Ludwig, A.; Zong, X.; Stieber, J.; Hullin, R.; Hofmann, F.; Biel, M.: Two pacemaker channels from human heart with profoundly different activation kinetics. EMBO J. 18: 2323-2329, 1999.
[0024544]15132.Casari, G.; De Fusco, M.; Ciarmatori, S.; Zeviani, M.; Mora, M.; Fernandez, P.; De Michele, G.; Filla, A.; Cocozza, S.; Marconi, R.; Durr, A.; Fontaine, B.; Ballabio, A.: Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 93: 973-983, 1998.
[0024545]15133.De Michele, G.; De Fusco, M.; Cavalcanti, F.; Filla, A.; Marconi, R.; Volpe, G.; Monticelli, A.; Ballabio, A.; Casari, G.; Cocozza, S.: A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3. Am. J. Hum. Genet. 63: 135-139, 1998.
[0024546]15134.Settasatian, C.; Whitmore, S. A.; Crawford, J.; Bilton, R. L.; Cleton-Jansen, A.-M.; Sutherland, G. R.; Callen, D. F.: Genomic structure and expression analysis of the spastic paraplegia gene, SPG7. Hum. Genet. 105: 139-144, 1999.
[0024547]15135.Nykjaer, A.; Dragun, D.; Walther, D.; Vorum, H.; Jacobsen, C.; Herz, J.: Melsen, F.; Christensen, E. I.; Willnow, T. E.: An endocytic pathway essential for renal uptake and activation of the steroid 25-(OH) vitamin D3. Cell 96: 507-515, 1999.
[0024548]15136.Quelle, D. E.; Ashmun, R. A.; Hannon, G. J.; Rehberger, P. A.; Trono, D.; Richter, K. H.; Walker, C.; Beach, D.; Sherr, C. J.; Serrano, M.: Cloning and characterization of murine p16(INK4a) and p15(INK4b) genes. Oncogene 11: 635-645, 1995.
[0024549]15137.Quelle, D. E.; Cheng, M.; Ashmun, R. A.; Sherr, C. J.: Cancer-associated mutations at the INK4a locus cancel cell cycle arrest by p16(INK4a) but not by the alternative reading frame protein p19(ARF). Proc. Nat. Acad. Sci. 94: 669-673, 1997.
[0024550]15138.Quelle, D. E.; Zindy, F.; Ashmun, R. A.; Sherr, C. J.: Alternative reading frames of the INK4a tumor suppressor gene encode two unrelated proteins capable of inducing cell cycle arrest. Cell 83: 993-1000, 1995.
[0024551]15139.Ranade, K.; Hussussian, C. J.; Sikorski, R. S.; Varmus, H. E.; Goldstein, A. M.; Tucker, M. A.; Serrano, M.; Hannon, G. J.; Beach, D.; Dracopoli, N. C.: Mutations associated with familial melanoma impair p16(INK4) function. Nature Genet. 10: 114-116, 1995.
[0024552]15140.Schmitt, C. A.; Fridman, J. S.; Yang, M.; Lee, S.; Baranov, E.; Hoffman, R. M.; Lowe, S. W.: A senescence program controlled by p53 and p16-INK4a contributes to the outcome of cancer therapy. Cell 109: 335-346, 2002.
[0024553]15141.Serrano, J.; Goebel, S. U.; Peghini, P. L.; Lubensky, I. A.; Gibril, F.; Jensen, R. T.: Alterations in the p16INK4a/CDKN2A tumor suppressor gene in gastrinomas. J. Clin. Endocr. Metab. 85: 4146-4156, 2000.
[0024554]15142.Serrano, M.; Hannon, G. J.; Beach, D.: A new regulatory motif in cell-cycle control causing specific inhibition of cyclin D/CDK4. Nature 366: 704-707, 1993.
[0024555]15143.Serrano, M.; Lee, H.-W.; Chin, L.; Cordon-Cardo, C.; Beach, D.; DePinho, R. A.: Role of the INK4a locus in tumor suppression and cell mortality. Cell 85: 27-37, 1996.
[0024556]15144.Sharpless, N. E.; Bardeesy, N.; Lee, K.-H.; Carrasco, D.; Castrillon, D. H.; Aguirre, A. J.; Wu, E. A.; Horner, J. W.; DePinho, R. A.: Loss of p16(Ink4a) with retention of p19(Arf) predisposes mice to tumorigenesis. Nature 413: 86-91, 2001.
[0024557]15145.Smith-Sorensen, B.; Hovig, E.: CDKN2A (p16-INK4A) somatic and germline mutations. Hum. Mutat. 7: 294-303, 1996.
[0024558]15146.Stone, S.; Jiang, P.; Dayananth, P.; Tavtigian, S. W.; Katcher, H.; Parry, D.; Peters, G.; Kamb, A.: Complex structure and regulation of the p16(MTS1) locus. Cancer Res. 55: 2988-2994, 1995.
[0024559]15147.Stott, F. J.; Bates, S.; James, M. C.; McConnell, B. B.; Starborg, M.; Brookes, S.; Palmero, I.; Ryan, K.; Hara, E.; Vousden, K. H.; Peters, G.: The alternative product from the human CDKN2A locus, p14(ARF), participates in a regulatory feedback loop with p53 and MDM2. EMBO J. 17: 5001-5014, 1998.
[0024560]15148.Tsutsumi, M.; Tsai, Y. C.; Gonzalgo, M. L.; Nichols, P. W.; Jones, P. A.: Early acquisition of homozygous deletions of p16/p19 during squamous cell carcinogenesis and genetic mosaicism in bladder cancer. Oncogene 17: 3021-3027, 1998.
[0024561]15149.van der Velden, P. A.; Sandkuijl, L. A.; Bergman, W.; Hille, E. T. M.; Frants, R. R.; Gruis, N. A.: A locus linked to p16 modifies melanoma risk in Dutch familial atypical multiple mole melanoma (FAMMM) syndrome families. Genome Res. 9: 575-580, 1999.
[0024562]15150.Vasen, H. F. A.; Gruis, N. A.; Frants, R. R.; van der Velden, P. A.; Hille, E. T. M.; Bergman, W.: Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16(p16-Leiden). Int. J. Cancer 87: 809-811, 2000.
[0024563]15151.Wainwright, B.: Familial melanoma and p16--a hung jury. Nature Genet. 8: 3-5, 1994.
[0024564]15152.Walker, G. J.; Hussussian, C. J.; Flores, J. F.; Glendening, J. M.; Haluska, F. G.; Dracopoli, N. C.; Hayward, N. K.; Fountain, J. W.: Mutations of the CDKN2/p16(INK4) gene in Australian melanoma kindreds. Hum. Mol. Genet. 4: 1845-1852, 1995.
[0024565]15153.Wiest, J. S.; Franklin, W. A.; Otstot, J. T.; Forbey, K.; Varella-Garcia, M.; Rao, K.; Drabkin, H.; Gemmill, R.; Ahrent, S.; Sidransky, D.; Saccomanno, G.; Fountain, J. W.; Anderson, M. W.: Identification of a novel region of homozygous deletion on chromosome 9p in squamous cell carcinoma of the lung: the location of a putative tumor suppressor gene. Cancer Res. 57: 1-6, 1997.
[0024566]15154.Williamson, M. P.; Elder, P. A.; Shaw, M. E.; Devlin, J.; Knowles, M. A.: p16 (CDKN2) is a major deletion target at 9p21 in bladder cancer. Hum. Molec. Genet. 4: 1569-1577, 1995.
[0024567]15155.Woloschak, M.; Yu, A.; Xiao, J.; Post, K. D.: Frequent loss of the P16(INK4a) gene product in human pituitary tumors. Cancer Res. 56: 2493-2496, 1996.
[0024568]15156.Zhang, Y.; Xiong, Y.: Mutations in human ARF exon 2 disrupt its nucleolar localization and impair its ability to block nuclear export of MDM2 and p53. Molec. Cell 3: 579-591, 1999.
[0024569]15157.Zhang, Y.; Xiong, Y.; Yarbrough, W. G.: ARF promotes MDM2 degradation and stabilizes p53: ARF-INK4a locus deletion impairs both the Rb and p53 tumor suppression pathways. Cell 92: 725-734, 1998.
[0024570]15158.Zhu, G.; Duffy, D. L.; Eldridge, A.; Grace, M.; Mayne, C.; O'Gorman, L.; Aitken, J. F.; Neale, M. C.; Hayward, N. K.; Green, A. C.; Martin, N. G.: A major quantitative-trait locus for mole density is linked to the familial melanoma gene CDKN2A: a maximum-likelihood combined linkage and association analysis in twins and their sibs. Am. J. Hum. Genet. 65: 483-492, 1999.
[0024571]15159.Pennica, D.; Swanson, T. A.; Shaw, K. J.; Kuang, W.-J.; Gray, C. L.; Beatty, B. G.; Wood, W. I.: Human cardiotrophin-1: protein and gene structure, biological and binding activities, and chromosomal localization. Cytokine 8: 183-189, 1996.
[0024572]15160.Bonnefont, J.-P.; Taroni, F.; Cavadini, P.; Cepanec, C.; Brivet, M.; Saudubray, J.-M.; Leroux, J.-P.; Demaugre, F.: Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression. Am. J. Hum. Genet. 58: 971-978, 1996.
[0024573]15161.Candia, A. F.; Hu, J.; Crosby, J.; Lalley, P. A.; Noden, D.; Nadeau, J. H.; Wright, C. V. E.: Mox-1 and Mox-2 define a novel homeobox gene subfamily and are differentially expressed during early mesodermal patterning in mouse embryos. Development 116: 1123-1136, 1992.
[0024574]15162.Gorski, D. H.; LePage, D. F.; Patel, C. V.; Copeland, N. G.; Jenkins, N. A.; Walsh, K.: Molecular cloning of a diverged homeobox gene that is rapidly down-regulated during the G0/G1 transition in vascular smooth muscle cells. Molec. Cell Biol. 13: 3722-3733, 1993.
[0024575]15163.Grigoriou, M.; Kastrinaki, M.-C.; Modi, W. S.; Theodorakis, K.; Mankoo, B.; Pachnis, V.; Karagogeos, D.: Isolation of the human MOX2 homeobox gene and localization to chromosome 7p22.1-p21.3. Genomics 26: 550-555, 1995.
[0024576]15164.LePage, D. F.; Altomare, D. A.; Testa, J. R.; Walsh, K.: Molecular cloning and localization of the human GAX gene to 7p21. Genomics 24: 535-540, 1994.
[0024577]15165.Mankoo, B. S.; Collins, N. S.; Ashby, P.; Grigorievea, E.; Pevny, L. H.; Candia, A.; Wright, C. V. E.; Rigby, P. W. J.; Pachnis, V. : Mox2 is a component of the genetic hierarchy controlling limb muscle development. Nature 400: 69-73, 1999.
[0024578]15166.Hayashi, Y. K.; Chou, F.-L.; Engvall, E.; Ogawa, M.; Matsuda, C.; Hirabayashi, S.; Yokochi, K.; Ziober, B. L.; Kramer, R. H.; Kaufman, S. J.; Ozawa, E.; Goto, Y.; Nonaka, I.; Tsukahara, T.; Wang, J.; Hoffman, E. P.; Arahata, K.: Mutations in the integrin alpha-7 gene cause congenital myopathy. Nature Genet. 19: 94-97, 1998.
[0024579]15167.Mayer, U.; Saher, G.; Fassler, R.; Bornemann, A.; Echtermeyer, F.; von der Mark, H.; Miosge, N.; Poschl, E.; von der Mark, K.: Absence of integrin alpha-7 causes a novel form of muscular dystrophy. Nature Genet. 17: 318-323, 1997.
[0024580]15168.Wang, W.; Wu, W.; Desai, T.; Ward, D. C.; Kaufman, S. J.: Localization of the alpha-7 integrin gene (ITGA7) on human chromosome 12q13: clustering of integrin and Hox genes implies parallel evolution of these gene families. Genomics 26: 563-570, 1995.
[0024581]15169.Lindor, N. M.; Furuichi, Y.; Kitao, S.; Shimamoto, A.; Arndt, C.; Jalal, S.: Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. Am. J. Med. Genet. 90: 223-228, 2000.
[0024582]15170.Puranam, K. L.; Blackshear, P. J.: Cloning and characterization of RECQL, a potential human homologue of the Escherichia coli DNA helicase RecQ. J. Biol. Chem. 269: 29838-29845, 1994.
[0024583]15171.Puranam, K. L.; Kennington, E.; J.-Sait, S. N.; Shows, T. B.; Rochelle, J. M.; Seldin, M. F.; Blackshear, P. J.: Chromosomal localization of the gene encoding the human DNA helicase RECQL and its mouse homologue. Genomics 26: 595-598, 1995.
[0024584]15172.Hagen, G.; Muller, S.; Beato, M.; Suske, G.: Cloning by recognition site screening of two novel GT box binding proteins: a family of Sp1 related genes. Nucleic Acids Res. 20: 5519-5525, 1992.
[0024585]15173.Lamour, V.; Lecluse, Y.; Desmaze, C.; Spector, M.; Bodescot, M.; Aurias, A.; Osley, M. A.; Lipinski, M.: A human homolog of the S. cerevisiae HIR1 and HIR2 transcriptional repressors cloned from the DiGeorge syndrome critical region. Hum. Molec. Genet. 4: 791-799, 1995.
[0024586]15174.Llevadot, R.; Scambler, P.; Estivill, X.; Pritchard, M.: Genomic organization of TUPLE1/HIRA: a gene implicated in DiGeorge syndrome. Mammalian Genome 7: 911-914, 1996.
[0024587]15175.Lorain, S.; Quivy, J.-P.; Monier-Gavelle, F.; Scamps, C.; Lecluse, Y.; Almouzni, G.; Lipinski, M.: Core histones and HIRIP3, a novel histone-binding protein, directly interact with WD repeat protein HIRA. Molec. Cell. Biol. 18: 5546-5556, 1998.
[0024588]15176.Magnaghi, P.; Roberts, C.; Lorain, S.; Lipinski, M.; Scambler, P. J.: HIRA, a mammalian homologue of Saccharomyces cerevisiae transcriptional co-repressors, interacts with Pax3. Nature Genet. 20: 74-77, 1998.
[0024589]15177.Mattei, M.-G.; Halford, S.; Scambler, P. J.: Mapping of the Tuple1 gene to mouse chromosome 16A-B1. Genomics 23: 717-718, 1994.
[0024590]15178.Roberts, C.; Daw, S. C. M.; Halford, S.; Scambler, P. J.: Cloning and developmental expression analysis of chick Hira (Chira), a candidate gene for DiGeorge syndrome. Hum. Molec. Genet. 6: 237-245, 1997.
[0024591]15179.Wilming, L. G.; Snoeren, C. A. S.; van Rijswijk, A.; Grosveld, F.; Meijers, C.: The murine homologue of HIRA, a DiGeorge syndrome candidate gene, is expressed in embryonic structures affected in human CATCH22 patients. Hum. Molec. Genet. 6: 247-258, 1997.
[0024592]15180.Akao, Y.; Matsuda, Y.: Identification and chromosome mapping of the mouse homologue of the human gene (DDX6) that encodes a putative RNA helicase of the DEAD box protein family. Cytogenet. Cell Genet. 75: 38-44, 1996.
[0024593]15181.Akao, Y.; Seto, M.; Takahashi, T.; Kubonishi, I.; Miyoshi, I.; Nakazawa, S.; Tsujimoti, Y.; Croce, C. M.; Ueda, R.: Molecular cloning of the chromosomal breakpoint of a B-cell lymphoma with the t(11;14)(q23;q32) chromosome translocation. Cancer Res. 51: 1574-1576, 1991.
[0024594]15182.Akao, Y.; Seto, M.; Yamamoto, K.; Iida, S.; Nakazawa, S.; Inazawa, J.; Abe, T.; Takahashi, T.; Ueda, R.: The RCK gene associated with t(11;14) translocation is distinct from the MLL/ALL-1 gene with t(4;11) and t(11;19) translocations. Cancer Res. 52: 6083-6087, 1992.
[0024595]15183.Akao, Y.; Tsujimoto, Y.; Finan, J.; Nowell, P. C.; Croce, C. M. : Molecular characterization of a t(11;14)(q23;q32) chromosome translocation in a B-cell lymphoma. Cancer Res. 50: 4856-4859, 1990.
[0024596]15184.Lu, D.; Yunis, J. J.: Cloning, expression and localization of an RNA helicase gene from a human lymphoid cell line with chromosomal breakpoint 11q23.3. Nucleic Acids Res. 20: 1967-1972, 1992.
[0024597]15185.Seto, M.; Yamamoto, K.; Takahashi, T.; Ueda, R.: Cloning and expression of a murine cDNA homologous to the human RCK/P54, a lymphoma-linked chromosomal translocation junction gene on 11q23. Gene 166: 293-296, 1995.
[0024598]15186.Tunnacliffe, A.; Perry, H.; Radice, P.; Budarf, M. L.; Emanuel, B. S.: A panel of sequence tagged sites for chromosome band 11q23. Genomics 17: 744-747, 1993.
[0024599]15187.Ricker, K.; Moxley, R. T.; Rohkamm, R.: Rippling muscle disease. Arch. Neurol. 46: 405-408, 1989.
[0024600]15188.Dumon, K. R.; Ishii, H.; Fong, L. Y. Y.; Zanesi, N.; Fidanza, V.; Mancini, R.; Vecchione, A.; Baffa, R.; Trapasso, F.; During, M. J.; Huebner, K.; Croce, C. M.: FHIT gene therapy prevents tumor development in Fhit-deficient mice. Proc. Nat. Acad. Sci. 98: 3346-3351, 2001.
[0024601]15189.Ikeda, A.; Zheng, Q. Y.; Zuberi, A. R.; Johnson, K. R.; Naggert, J. K.; Nishina, P. M.: Microtubule-associated protein 1A is a modifier of tubby hearing (moth1). Nature Genet. 30: 401-405, 2002.
[0024602]15190.Roy, S. K.; Hu, J.; Meng, Q.; Xia, Y.; Shapiro, P. S.; Reddy, S. P. M.; Platanias, L. C.; Lindner, D. J.; Johnson, P. F.; Pritchard, C.; Pages, G.; Pouyssegur, J.; Kalvakolanu, D. V.: MEKK1 plays a critical role in activating the transcription factor C/EBP-beta-dependent gene expression in response to IFN-gamma. Proc. Nat. Acad. Sci. 99: 7945-7950, 2002.
[0024603]15191.Lindsten, T.; Ross, A. J.; King, A.; Zong, W.-X.; Rathmell, J. C.; Shiels, H. A.; Ulrich, E.; Waymire, K. G.; Mahar, P.; Frauwirth, K.; Chen, Y.; Wei, M.; and 9 others: The combined functions of proapoptotic Bcl-2 family members Bak and Bax are essential for normal development of multiple tissues. Molec. Cell 6: 1389-1399, 2000.
[0024604]15192.Matikainen, T.; Perez, G. I.; Jurisicova, A.; Pru, J. K.; Schlezinger, J. J.; Ryu, H.-Y.; Laine, J.; Sakai, T.; Korsmeyer, S. J.; Casper, R. F.; Sherr, D. H.; Tilly, J. L.: Aromatic hydrocarbon receptor-driven Bax gene expression is required for premature ovarian failure caused by biohazardous environmental chemicals. Nature Genet. 28: 355-360, 2001.
[0024605]15193.Wei, M. C.; Zong, W.-X.; Cheng, E. H.-Y.; Lindsten, T.; Panoutsakopoulou, V.; Ross, A. J.; Roth, K. A.; MacGregor, G. R.; Thompson, C. B.; Korsmeyer, S. J.: Proapoptotic BAX or BAK: a requisite gateway to mitochondrial dysfunction and death. Science 292: 727-730, 2001.
[0024606]15194.Dasari, V. R.; Sandhu, A. K.; Mills, D. C. B.; Athwal, R. S.; Kunapuli, S. P.: Mapping of the P2U purinergic receptor gene to human chromosome 11q13.5-14.1. Somat. Cell Molec. Genet. 22: 75-79, 1996.
[0024607]15195.Katzur, A. C.; Koshimizu, T.-A.; Tomic, M.; Schultze-Mosgau, A.; Ortmann, O.; Stojilkovic, S. S.: Expression and responsiveness of P2Y2 receptors in human endometrial cancer cell lines. J. Clin. Endocr. Metab. 84: 4085-4091, 1999.
[0024608]15196.Parr, C. E.; Sullivan, D. M.; Paradiso, A. M.; Lazarowski, E. R.; Burch, L. H.; Olsen, J. C.; Erb, L.; Weisman, G. A.; Boucher, R. C.; Turner, J. T.: Cloning and expression of a human P(2U) nucleotide receptor, a target for cystic fibrosis pharmacotherapy. Proc. Nat. Acad. Sci. 91: 3275-3279, 1994.
[0024609]15197.Somers, G. R.; Hammet, F.; Woollatt, E.; Richards, R. I.; Southey, M. C.; Venter, D. J.: Chromosomal localization of the human P2Y(6) purinoceptor gene and phylogenetic analysis of the P2y purinoceptor family. Genomics 44: 127-130, 1997.
[0024610]15198.Tai, C.-J.; Kang, S. K.; Cheng, K. W.; Choi, K.-C.; Nathwani, P. S.; Leung, P. C. K.: Expression and regulation of P2U-purinergic receptor in human granulosa-luteal cells. J. Clin. Endocr. Metab. 85: 1591-1597, 2000.
[0024611]15199.Santamarina-Fojo, S.; Peterson, K.; Knapper, C.; Qiu, Y.; Freeman, L.; Cheng, J.-F.; Osorio, J.; Remaley, A.; Yang, X.-P.; Haudenschild, C.; Prades, C.; Chimini, G.; Blackmon, E.; Francois, T.; Duverger, N.; Rubin, E. M.; Rosier, M.; Denefle, P.; Fredrickson, D. S.; Brewer, H. B., Jr.: Complete genomic sequence of the human ABCA1 gene: analysis of the human and mouse ATP-binding cassette A promoter. Proc. Nat. Acad. Sci. 97: 7987-7992, 2000. Note: Erratum: Proc. Nat. Acad. Sci. 99: 1098 only, 2002.
[0024612]15200.Szakacs, G.; Langmann, T.; Ozvegy, C.; Orso, E.; Schmitz, G.; Varadi, A.; Sarkadi, B.: Characterization of the ATPase cycle of human ABCA1: implications for its function as a regulator rather than an active transporter. Biochem. Biophys. Res. Commun. 288: 1258-1264, 2001.
[0024613]15201.Utech, M.; Hobbel, G.; Rust, S.; Reinecke, H.; Assmann, G.; Walter, M.: Accumulation of RhoA, RhoB, RhoG, and Rac1 in fibroblasts from Tangier disease subjects suggests a regulatory role of Rho family proteins in cholesterol efflux. Biochem. Biophys. Res. Commun. 280: 229-236, 2001.
[0024614]15202.Zhao, L.-X.; Zhou, C.-J.; Tanaka, A.; Nakata, M.; Hirabayashi, T.; Amachi, T.; Shioda, S.; Ueda, K.; Inagaki, N.: Cloning, characterization and tissue distribution of the rat ATP-binding cassette (ABC) transporter ABC2/ABCA2. Biochem J. 350: 865-872, 2000.
[0024615]15203.Zwarts, K. Y.; Clee, S. M.; Zwinderman, A. H.; Engert, J. C.; Singaraja, R.; Loubser, O.; James, E.; Roomp, K.; Hudson, T. J.; Jukema, J. W.; Kastelein, J. J. P.; Hayden, M. R.: ABCA1 regulatory variants influence coronary artery disease independent of effects on plasma lipid levels. Clin. Genet. 61: 115-125, 2002.
[0024616]15204.Ing, Y. L.; Leung, I. W. L.; Heng, H. H. Q.; Tsui, L.-C.; Lassam, N. J.: MLK-3: identification of a widely-expressed protein kinase bearing an SH3 domain and a leucine zipper-basic region domain. Oncogene 9: 1745-1750, 1994.
[0024617]15205.Bernard, O. A.; Mauchauffe, M.; Mecucci, C.; Van Den Berghe, H.; Berger, R.: A novel gene, AF-1p, fused to HRX in t(1;11)(p32;q23), is not related to AF-4, AF-9 nor ENL. Oncogene 9: 1039-1045, 1994.
[0024618]15206.Fazioli, F.; Minichiello, L.; Matoska, V.; Castagnino, P.; Miki, T.; Wong, W. T.; Di Fiore, P. P.: Eps8, a substrate for the epidermal growth factor receptor kinase, enhances EGF-dependent mitogenic signals. EMBO J. 12: 3799-3808, 1993.
[0024619]15207.Fazioli, F.; Minichiello, L.; Matoskova, B.; Wong, W. T.; Di Fiore, P. P.: eps 15, a novel tyrosine kinase substrate, exhibits transforming activity. Molec. Cell. Biol. 13: 5814-5828, 1993.
[0024620]15208.Fazioli, F.; Wong, W. T.; Ullrich, S. J.; Sakaguchi, K.; Appella, E.; Di Fiore, P. P.: The ezrin-like family of tyrosine kinase substrates: receptor-specific pattern of tyrosine phosphorylation and relationship to malignant transformation. Oncogene 8: 1335-1345, 1993.
[0024621]15209.Wong, W. T.; Kraus, M. H.; Carlomagno, F.; Zelano, A.; Druck, T.; Croce, C. M.; Huebner, K.; Di Fiore, P. P.: The human eps15 gene, encoding a tyrosine kinase substrate, is conserved in evolution and maps to 1p31-p32. Oncogene 9: 1591-1597, 1994.
[0024622]15210.Frydman, J.; Nimmesgern, E.; Erdjument-Bromage, H.; Wall, J. S.; Tempst, P.; Hartl, F.-U.: Function in protein folding of TRiC, a cytosolic ring complex containing TCP-1 and structurally related subunits. EMBO J. 11: 4767-4778, 1992.
[0024623]15211.Joly, E. C.; Sevigny, G.; Todorov, I. T.; Bibor-Hardy, V.: cDNA encoding a novel TCP1-related protein. Biochim. Biophys. Acta 1217: 224-226, 1994.
[0024624]15212.Sevigny, G.; Joly, E. C.; Bibor-Hardy, V.; Lemieux, N.: Assignment of the human homologue of the mTRiC-P5 gene (TRIC5) to band 1q23 by fluorescence in situ hybridization. Genomics 22: 634-636, 1994.
[0024625]15213.Sevigny, G.; Lemieux, N.; Steyaert, A.; Bibor-Hardy, V.: Structure of the gene coding for the mouse TRiC-P5 subunit of the cytosolic chaperonin TRiC. Genomics 31: 107-110, 1996.
[0024626]15214.Walkley, N. A.; Demaine, A. G.; Malik, A. N.: Cloning, structure and mRNA expression of human Cctg, which encodes the chaperonin subunit CCT-gamma. Biochem. J. 313: 381-389, 1996.
[0024627]15215.Hoenicka, J.; Vidal, L.; Morales, B.; Ampuero, I.; Jimenez-Jimenez, F. J.; Berciano, J.; del Ser, T.; Jimenez, A.; Ruiz, P. G.; de Yebenes, J. G.: Molecular findings in familial Parkinson disease in Spain. Arch. Neurol. 59: 966-970, 2002.
[0024628]15216.Kitada, T.; Asakawa, S.; Hattori, N.; Matsumine, H.; Yamamura, Y.; Minoshima, S.; Yokochi, M.; Mizuno, Y.; Shimizu, N.: Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 392: 605-608, 1998.
[0024629]15217.Matsumine, H.; Saito, M.; Shimoda-Matsubayashi, S.; Tanaka, H.; Ishikawa, A.; Nakagawa-Hattori, Y.; Yokochi, M.; Kobayashi, T.; Igarashi, S.; Takano, H.; Sanpei, K.; Koike, R.; Mori, H.; Kondo, T.; Mizutani, Y.; Schaffer, A. A.; Yamamura, Y.; Nakamura, S.; Kuzuhura, S.; Tsuji, S.; Mizuno, Y.: Localization of a gene for an autosomal recessive form of juvenile parkinsonism to chromosome 6q25.2-27. Am. J. Hum. Genet. 60: 588-596, 1997.
[0024630]15218.Tassin, J.; Durr, A.; de Broucker, T.; Abbas, N.; Bonifati, V.; De Michele, G.; Bonnet, A.-M.; Broussolle, E.; Pollak, P.; Vidailhet, M.; De Mari, M.; Marconi, R.; Medjbeur, S.; Filla, A.; Meco, G.; Agid, Y.; Brice, A.; French Parkinson's Disease Genetics Study Group; European Consortium on Genetic Susceptibility in Parkinson's Disease : Chromosome 6-linked autosomal recessive early-onset parkinsonism: linkage in European and Algerian families, extension of the clinical spectrum, and evidence of a small homozygous deletion in one family. Am. J. Hum. Genet. 63: 88-94, 1998.
[0024631]15219.Kozu, T.; Henrich, B.; Schafer, K. P.: Structure and expression of the gene (HNRPA2B1) encoding the human hnRNP protein A2/B1. Genomics 25: 365-371, 1995.
[0024632]15220.Kordeli, E.; Lambert, S.; Bennett, V.: Ankyrin-G: a new ankyrin gene with neuralspecific isoforms localized at the axonal initial segment and node of Ranvier. J. Biol. Chem. 270: 2352-2359, 1995.
[0024633]15221.Hsu, L. C.; Chang, W.-C.; Yoshida, A.: Human aldehyde dehydrogenase genes, ALDH7 and ALDH8: genomic organization and gene structure comparison. Gene 189: 89-94, 1997.
[0024634]15222.Hsu, L. C.; Chang, W.-C.; Yoshida, A.: Cloning of a cDNA encoding human ALDH7, a new member of the aldehyde dehydrogenase family. Gene 151: 285-289, 1994.
[0024635]15223.Aruga, J.; Yokota, N.; Hashimoto, M.; Furuichi, T.; Fukuda, M.; Mikoshiba, K.: A novel zinc finger protein, Zic, is involved in neurogenesis, especially in the cell lineage of cerebellar granule cells. J. Neurochem. 63: 1880-1890, 1994.
[0024636]15224.Salero, E.; Perez-Sen, R.; Aruga, J.; Gimenez, C.; Zafra, F.: Transcription factors Zic1 and Zic2 bind and transactivate the apolipoprotein E gene promoter. J. Biol. Chem. 276: 1881-1888, 2001.
[0024637]15225.Yokota, N.; Aruga, J.; Takai, S.; Yamada, K.; Hamazaki, M.; Iwase, T.; Sugimura, H.; Mikoshiba, K.: Predominant expression of human Zic in cerebellar granule cell lineage and medulloblastoma. Cancer Res. 56: 377-383, 1996.
[0024638]15226.Bevins, C. L.; Jones, D. E.; Dutra, A.; Schaffzin, J.; Muenke, M.: Human enteric defensin genes: chromosomal map position and a model for possible evolutionary relationships. Genomics 31: 95-106, 1996.
[0024639]15227.Jones, D. E.; Bevins, C. L.: Defensin-6 mRNA in human Paneth cells: implications for antimicrobial peptides in host defense of the human bowel. FEBS Lett. 315: 187-192, 1993.
[0024640]15228.Mallow, E. B.; Harris, A.; Salzman, N.; Russell, J. P.; DeBerardinis, R. J.; Ruchelli, E.; Bevins, C. L.: Human enteric defensins: gene structure and developmental expression. J. Biol. Chem. 271: 4038-4045, 1996.
[0024641]15229.Jones, D. E.; Bevins, C. L.: Paneth cells of the human small intestine express an antimicrobial peptide gene. J. Biol. Chem. 267: 23216-23225, 1992.
[0024642]15230.Porter, E. M.; Liu, L.; Oren, A.; Anton, P. A.; Ganz, T.: Localization of human intestinal defensin 5 in Paneth cell granules. Infect. Immun. 65: 2389-2395, 1997.
[0024643]15231.Quayle, A. J.; Porter, E. M.; Nussbaum, A. A.; Wang, Y. M.; Brabec, C.; Yip, K.-P.; Mok, S. C.: Gene expression, immunolocalization, and secretion of human defensin-5 in human female reproductive tract. Am. J. Path. 152: 1247-1258, 1998.
[0024644]15232.Matsuzono, Y.; Kinoshita, N.; Tamura, S.; Shimozawa, N.; Hamasaki, M.; Ghaedi, K.; Wanders, R. J. A.; Suzuki, Y.; Kondo, N.; Fujiki, Y.: Human PEX19: cDNA cloning by functional complementation, mutation analysis in a patient with Zellweger syndrome, and potential role in peroxisomal membrane assembly. Proc. Nat. Acad. Sci. 96: 2116-2121, 1999.
[0024645]15233.Kinoshita, N.; Ghaedi, K.; Shimozawa, N.; Wanders, R. J. A.; Matsuzono, Y.; Imanaka, T.; Okumoto, K.; Suzuki, Y.; Kondo, N.; Fujiki, Y.: Newly identified Chinese hamster ovary cell mutants are defective in biogenesis of peroxisomal membrane vesicles (peroxisomal ghosts), representing a novel complementation group in mammals J. Biol. Chem. 273: 24122-24130, 1998.
[0024646]15234.Chen, K.-S.; Gunaratne, P. H.; Hoheisel, J. D.; Young, I. G.; Gabor Miklos, G. L.; Greenberg, F.; Shaffer, L. G.; Campbell, H. D.; Lupski, J. R.: The human homologue of the Drosophila melanogaster flightless-I gene (flil) maps within the Smith-Magenis microdeletion critical region in 17p11.2. Am. J. Hum. Genet. 56: 175-182, 1995.
[0024647]15235.Heisterkamp, N.; Kaartinen, V.; van Soest, S.; Bokoch, G. M.; Groffen, J.: Human ABR encodes a protein with GAP-rac activity and homology to the DBL nucleotide exchange factor domain. J. Biol. Chem. 268: 16903-16906, 1993.
[0024648]15236.Heisterkamp, N.; Morris, C.; Groffen, J.: ABR, an active BCR-related gene. Nucleic Acids Res. 17: 8821-8831, 1989.
[0024649]15237.McDonald, J. D.; Daneshvar, L.; Willert, J. R.; Matsumura, K.; Waldman, F.; Cogen, P. H.: Physical mapping of chromosome 17p13.3 in the region of a putative tumor suppressor gene important in medulloblastoma. Genomics 23: 229-232, 1994.
[0024650]15238.Shimomura, H.; Sanke, T.; Hanabusa, T.; Tsunoda, K.; Furuta, H.; Nanjo, K.: Nonsense mutation of islet-1 gene (Q310X) found in a type 2 diabetic patient with a strong family history. Diabetes 49: 1597-1600, 2000.
[0024651]15239.Tanizawa, Y.; Riggs, A. C.; Dagogo-Jack, S.; Vaxillaire, M.; Froguel, P.; Liu, L.; Donis-Keller, H.; Permutt, M. A.: Isolation of the human LIM/homeodomain gene islet-1 and identification of a simple sequence repeat 1. Diabetes 43: 935-941, 1994.
[0024652]15240.Corti, O.; Finocchiaro, G.; Rossi, E.; Zuffardi, O.; DiDonato, S.: Molecular cloning of cDNAs encoding human carnitine acetyltransferase and mapping of the corresponding gene to chromosome 9q34.1. Genomics 23: 94-99, 1994.
[0024653]15241.Kalaria, R. N.; Harik, S. I.: Carnitine acetyltransferase activity in the human brain and its microvessels is decreased in Alzheimer's disease. Ann. Neurol. 32: 583-586, 1992.
[0024654]15242.van der Leij, F. R.; Huijkman, N. C. A.; Boomsma, C.; Kuipers, J. R. G.; Bartelds, B.: Genomics of the human carnitine acyltransferase genes. Molec. Genet. Metab. 71: 139-153, 2000.
[0024655]15243.Barkardottir, R. B.; Sarantaus, L.; Arason, A.; Vehmanen, P.; Bendahl, P.-O.; Kainu, T.; Syrjakoski, K.; Krahe, R.; Huusko, P.; Pyrhonen, S.; Holli, K.; Kallioniemi, O.-P.; Egilsson, V.; Kere, J.; Nevanlinna, H.: Haplotype analysis in Icelandic and Finnish BRCA2 999del5 breast cancer families. Europ. J. Hum. Genet. 9: 773-779, 2001.
[0024656]15244.Breast Cancer Linkage Consortium: Cancer risks in BRCA2 mutation carriers. J. Nat. Cancer Inst. 91: 1310-1316, 1999.
[0024657]15245.Connor, F.; Smith, A.; Wooster, R.; Stratton, M.; Dixon, A.; Campbell, E.; Tait, T.-M.; Freeman, T.; Ashworth, A.: Cloning, chromosomal mapping and expression pattern of the mouse Brca2 gene. Hum. Molec. Genet. 6: 291-300, 1997.
[0024658]15246.Couch, F. J.; Rommens, J. M.; Neuhausen, S. L.; Belanger, C.; Dumont, M.; Abel, K.; Bell, R.; Berry, S.; Bogden, R.; Cannon-Albright, L.; Farid, L.; Frye, C.; and 30 others: Generation of an integrated transcription map of the BRCA2 region on chromosome 13q12-q13. Genomics 36: 86-99, 1996.
[0024659]15247.Davies, A. A.; Masson, J.-Y.; McIlwraith, M. J.; Stasiak, A. Z.; Stasiak, A.; Venkitaraman, A. R.; West, S. C.: Role of BRCA2 in control of the RAD51 recombination and DNA repair protein. Molec. Cell 7: 273-282, 2001.
[0024660]15248.Easton, D. F.; Ford, D.; Bishop, D. T.; Breast Cancer Linkage Consortium: Breast and ovarian cancer incidence in BRCA1-mutation carriers. Am. J. Hum. Genet. 56: 265-271, 1995.
[0024661]15249.Easton, D. F.; Steele, L.; Fields, P.; Ormiston, W.; Averill, D.; Daly, P. A.; McManus, R.; Neuhausen, S. L.; Ford, D.; Wooster, R.; Cannon-Albright, L. A.; Stratton, M. R.; Goldgar, D. E.: Cancer risks in two large breast cancer families linked to BRCA2 on chromosome 13q12-13. Am. J. Hum. Genet. 61: 120-128, 1997.
[0024662]15250.Fackenthal, J. D.; Cartegni, L.; Krainer, A. R.; Olopade, O. I. : BRCA2 T2722R is a deleterious allele that causes exon skipping. Am. J. Hum. Genet. 71: 625-631, 2002.
[0024663]15251.Garcia-Marco, J. A.; Caldas, C.; Price, C. M.; Wiedemann, L. M.; Ashworth, A.; Catovsky, D.: Frequent somatic deletion of the 13q12.3 locus encompassing BRCA2 in chronic lymphocytic leukemia. Blood 88: 1568-1575, 1996.
[0024664]15252.Gayther, S. A.; Mangion, J.; Russell, P.; Seal, S.; Barfoot, R.; Ponder, B. A. J.; Stratton, M. R.; Easton, D.: Variation in risks of breast and ovarian cancer associated with different germline mutations of the BRCA2 gene. Nature Genet. 15: 103-105, 1997.
[0024665]15253.Gronberg, H.; Ahman, A.-K.; Emanuelsson, M.; Bergh, A.; Damber, J.-E.; Borg, A.: BRCA2 mutation in a family with hereditary prostate cancer. Genes Chromosomes Cancer 30: 299-301, 2001.
[0024666]15254.Gudmundsson, J.; Johannesdottir, G.; Arason, A.; Bergthorsson, J. T.; Ingvarsson, S.; Egilsson, V.; Barkardottir, R. B.: Frequent occurrence of BRCA2 linkage in Icelandic breast cancer families and segregation of a common BRCA2 haplotype. Am. J. Hum. Genet. 58: 749-756, 1996.
[0024667]15255.Healey, C. S.; Dunning, A. M.; Teare, M. D.; Chase, D.; Parker, L.; Burn, J.; Chang-Claude, J.; Mannermaa, A.; Kataja, V.; Huntsman, D. G.; Pharoah, P. D. P.; Luben, R. N.; Easton, D. F.; Ponder, B. A. J.: A common variant in BRCA2 is associated with both breast cancer risk and prenatal viability. Nature Genet. 26: 362-364, 2000.
[0024668]15256.Gengyo-Ando, K.; Kitayama, H.; Mukaida, M.; Ikawa, Y.: A murine neural-specific homolog corrects cholinergic defects in Caenorhabditis elegans unc-18 mutants. J. Neurosci. 16: 6695-6702, 1996.
[0024669]15257.Pevsner, J.; Hsu, S.-C.; Scheller, R. H.: n-Sec1: a neural-specific syntaxin-binding protein. Proc. Nat. Acad. Sci. 91: 1445-1449, 1994.
[0024670]15258.Swanson, D. A.; Steel, J. M.; Valle, D.: Identification and characterization of the human ortholog of rat STXBP1, a protein implicated in vesicle trafficking and neurotransmitter release. Genomics 48: 373-376, 1998.
[0024671]15259.Verhage, M.; Mala, A. S.; Plomp, J. J.; Brussaard, A. B.; Heeroma, J. H.; Vermeer, H.; Toonen, R. F.; Hammer, R. E.; van den Berg, T. K.; Missler, M.; Geuze, H. J.; Sudhof, T. C.: Synaptic assembly of the brain in the absence of neurotransmitter secretion. Science 287: 864-869, 2000.
[0024672]15260.Monaco, C.; Negrini, M.; Sozzi, G.; Veronese, M. L.; Vorechovsky, I.; Godwin, A. K.; Croce, C. M.: Molecular cloning and characterization of LOH11CR2A, a new gene within a refined minimal region of LOH at 11q23. Genomics 46: 217-222, 1997.
[0024673]15261.Topper, J. N.; Cai, J.; Qiu, Y.; Anderson, K. R.; Xu, Y.-Y.; Deeds, J. D.; Feeley, R.; Gimeno, C. J.; Woolf, E. A.; Tayber, O.; Mays, G. G.; Sampson, B. A.; Schoen, F. J.; Gimbrone, M. A., Jr.; Falb, D.: Vascular MADs: two novel MAD-related genes selectively inducible by flow in human vascular endothelium. Proc. Nat. Acad. Sci. 94: 9314-9319, 1997.
[0024674]15262.Festing, M. F. W. (ed.): Inbred strains in biomedica research. New York: Oxford University Press , 1979. p. 255.
[0024675]15263.Illa, I.; Serrano-Munuera, C.; Gallardo, E.; Lasa, A.; Rojas-Garcia, R.; Palmer, J.; Gallano, P.; Baiget, M.; Matsuda, C.; Brown, R. H. : Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype. Ann. Neurol. 49: 130-134, 2001.
[0024676]15264.Illarioshkin, S. N.; Ivanova-Smolenskaya, I. A.; Greenberg, C. R.; Nylen, E.; Sukhorukov, V. S.; Poleshchuk, V. V.; Markova, E. D.; Wrogemann, K.: Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy. Neurology 55: 1931-1933, 2000.
[0024677]15265.Liu, J.; Wu, C.; Bossie, K.; Bejaoui, K.; Hosler, B. A.; Gingrich, J. C.; Ben Hamida, M.; Hentati, F.; Schurr, E.; de Jong, P. J.; Brown, R. H., Jr.: Generation of 3-Mb PAC contig spanning the Miyoshi myopathy/limb girdle muscular dystrophy (MM/LGMD2B) locus on chromosome 2p13. Genomics 49: 23-29, 1998.
[0024678]15266.Mahjneh, I.; Vannelli, G.; Bushby, K.; Marconi, G. P.: A large inbred Palestinian family with two forms of muscular dystrophy. Neuromusc. Disord. 2: 277-283, 1992.
[0024679]15267.Weiler, T.; Bashir, R.; Anderson, L. V. B.; Davison, K.; Moss, J. A.; Britton, S.; Nylen, E.; Keers, S.; Vafiadaki, E.; Greenberg, C. R.; Bushby, K. M. D.; Wrogemann, K.: Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s). Hum. Molec. Genet. 8: 871-877, 1999.
[0024680]15268.Hannon, G. J.; Beach, D.: p15(INK4B) is a potential effector of TGF-beta-induced cell cycle arrest. Nature 371: 257-261, 1994.
[0024681]15269.Stone, S.; Dayananth, P.; Jiang, P.; Weaver-Feldhaus, J. M.; Tavtigian, S. V.; Cannon-Albright, L.; Kamb, A.: Genomic structure, expression and mutational analysis of the P15 (MTS2) gene. Oncogene 11: 987-991, 1995.
[0024682]15270.Pennica, D.; Arce, V.; Swanson, T. A.; Vejsada, R.; Pollock, R. A.; Armanini, M.; Dudley, K.; Phillips, H. S..; Rosenthal, A.; Kato, A. C.; Henderson, C. E.: Cardiotrophin-1, a cytokine present in embryonic muscle, supports long-term survival of spinal motoneurons. Neuron 17: 63-74, 1996.
[0024683]15271.Pennica, D.; King, K. L.; Shaw, K. J.; Luis, E.; Rullamas, J.; Luoh, S.-M.; Darbonne, W. C.; Knutzon, D. S.; Yen, R.; Chien, K. R.; Baker, J. B.; Wood, W. I.: Expression cloning of cardiotrophin 1, a cytokine that induces cardiac myocyte hypertrophy. Proc. Nat. Acad. Sci. 92: 1142-1146, 1995.
[0024684]15272.Ghosh, A.: Learning more about NMDA receptor regulation. Science 295: 449-451, 2002.
[0024685]15273.Grunwald, I. C.; Korte, M.; Wolfer, D.; Wilkinson, G. A.; Unsicker, K.; Lipp, H.-P.; Bonhoeffer, T.; Klein, R.: Kinase-independent requirement of EphB2 receptors in hippocampal synaptic plasticity. Neuron 32: 1027-1040, 2001.
[0024686]15274.Henderson, J. T.; Georgiou, J.; Jia, Z.; Robertson, J.; Elowe, S.; Roder, J. C.; Pawson, T.: The receptor tyrosine kinase EphB2 regulates NMDA-dependent synaptic function. Neuron 32: 1041-1056, 2001.
[0024687]15275.Himanen, J.-P.; Rajashankar, K. R.; Lackmann, M.; Cowan, C. A.; Henkemeyer, M.; Nikolov, D. B.: Crystal structure of an Eph receptor-ephrin complex. Nature 414: 933-938, 2001.
[0024688]15276.Sakano, S.; Serizawa, R.; Inada, T.; Iwama, A.; Itoh, A.; Kato, C.; Shimizu, Y.; Shinkai, F.; Shimizu, R.; Kondo, S.; Ohno, M.; Suda, T.: Characterization of a ligand for receptor proteintyrosine kinase HTK expressed in immature hematopoietic cells. Oncogene 13: 813-822, 1996.
[0024689]15277.Takasu, M. A.; Dalva, M. B.; Zigmond, R. E.; Greenberg, M. E. : Modulation of NMDA receptor-dependent calcium influx and gene expression through EphB receptors. Science 295: 491-495, 2002.
[0024690]15278.Wang, H. U.; Chen, Z.-F.; Anderson, D. J.: Molecular distinction and angiogenic interaction between embryonic arteries and veins revealed by ephrin-B2 and its receptor Eph-B4. Cell 93: 741-753, 1998.
[0024691]15279.Slama, A.; Brivet, M.; Boutron, A.; Legrand, A.; Saudubray, J.-M.; Demaugre, F.: Complementation analysis of carnitine palmitoyltransferase I and II defects. Pediat. Res. 40: 542-546, 1996.
[0024692]15280.Doudney, K.; Murdoch, J. N.; Paternotte, C.; Bentley, L.; Gregory, S.; Copp, A. J.; Stanier, P.: Comparative physical and transcript maps of approximately 1 Mb around loop-tail, a gene for severe neural tube defects on distal mouse chromosome 1 and human chromosome 1q22-q23. Genomics 72: 180-192, 2001.
[0024693]15281.Kibar, Z.; Vogan, K. J.; Groulx, N.; Justice, M. J.; Underhill, D. A.; Gros, P.: Ltap, a mammalian homolog of Drosophila Strabismus/Van Gogh, is altered in the mouse neural tube mutant loop-tail. Nature Genet. 28: 251-255, 2001.
[0024694]15282.Mullick, A.; Trasler, D.; Gros, P.: High-resolution linkage map in the vicinity of the Lp locus. Genomics 26: 479-488, 1995.
[0024695]15283.Murdoch, J. N.; Doudney, K.; Paternotte, C.; Copp, A. J.; Stanier, P.: Severe neural tube defects in the loop-tail mouse result from mutation of Lpp1, a novel gene involved in floor plate specification. Hum. Molec. Genet. 10: 2593-2601, 2001.
[0024696]15284.Stanier, P.; Henson, J. N.; Eddleston, J.; Moore, G. E.; Copp, A. J.: Genetic basis of neural tube defects: the mouse gene loop-tail maps to a region of chromosome 1 syntenic with human 1q21-q23. Genomics 26: 473-478, 1995.
[0024697]15285.Yu, J. X.; Chao, L.; Chao, J.: Prostasin is a novel human serine proteinase from seminal fluid: purification, tissue distribution, and localization in prostate gland. J. Biol. Chem. 269: 18843-18848, 1994.
[0024698]15286.Yu, J. X.; Chao, L.; Chao, J.: Molecular cloning, tissue-specific expression, and cellular localization of human prostasin mRNA. J. Biol. Chem. 270: 13483-13489, 1995.
[0024699]15287.Yu, J. X.; Chao, L.; Ward, D. C.; Chao, J.: Structure and chromosomal localization of the human prostasin (PRSS8) gene. Genomics 32: 334-340, 1996.
[0024700]15288.Carlberg, C.; Hooft van Huijsduijnen, R.; Staple, J. K.; DeLamarter, J. F.; Becker-Andre, M.: RZRs, a new family of retinoid-related orphan receptors that function as both monomers and homodimers. Molec. Endocr. 8: 757-770, 1994.
[0024701]15289.Ueda, H. R.; Chen, W.; Adachi, A.; Wakamatsu, H.; Hayashi, S.; Takasugi, T.; Nagano, M.; Nakahama, K.; Suzuki, Y.; Sugano, S.; Iino, M.; Shigeyoshi, Y.; Hashimoto, S.: A transcription factor response element for gene expression during circadian night. Nature 418: 534-539, 2002.
[0024702]15290.Masternak, K.; Barras, E.; Zufferey, M.; Conrad, B.; Corthals, G.; Aebersold, R.; Sanchez, J.-C.; Hochstrasser, D. F.; Mach, B.; Reith, W.: A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients. Nature Genet. 20: 273-277, 1998.
[0024703]15291.Prange, C. K.; Pennacchio, L. A.; Lieuallen, K.; Fan, W.; Lennon, G. G.: Characterization of the human neurocan gene, CSPG3. Gene 221: 199-205, 1998.
[0024704]15292.Rauch, U.; Grimpe, B.; Kulbe, G.; Arnold-Ammer, I.; Beier, D. R.; Fassler, R.: Structure and chromosomal localization of the mouse neurocan gene. Genomics 28: 405-410, 1995.
[0024705]15293.Rauch, U.; Karthikeyan, L.; Maurel, P.; Margolis, R. U.; Margolis, R. K.: Cloning and primary structure of neurocan, a developmentally regulated, aggregating chondroitin sulfate proteoglycan of brain. J. Biol. Chem. 267: 19536-19547, 1992.
[0024706]15294.Drummond, J. T.; Genschel, J.; Wolf, E.; Modrich, P.: DHFR/MSH3 amplification in methotrexate-resistant cells alters the hMutS-alpha/hMutS-beta ratio and reduces the efficiency of basebase mismatch repair. Proc. Nat. Acad. Sci. 94: 10144-10149, 1997.
[0024707]15295.Fujii, H.; Shimada, T.: Isolation and characterization of cDNA clones derived from the divergently transcribed gene in the region upstream from the human dihydrofolate reductase gene. J. Biol. Chem. 264: 10057-10064, 1989.
[0024708]15296.Inokuchi, K.; Ikejima, M.; Watanabe, A.; Nakajima, E.; Orimo, H.; Nomura, T.; Shimada, T.: Loss of expression of the human MSH3 gene in hematological malignancies. Biochem. Biophys. Res. Commun. 214: 171-179, 1995.
[0024709]15297.Linton, J. P.; Yen, J. Y.-J.; Selby, E.; Chen, Z.; Chinsky, J. M.; Liu, K.; Kellems, R. E.; Crouse, G. F.: Dual bidirectional promoters at the mouse dhfr locus: cloning and characterization of two mRNA classes of the divergently transcribed Rep-1 gene. Molec. Cell. Biol. 9: 3058-3072, 1989.
[0024710]15298.Marra, G.; Iaccarino, I.; Lettieri, T.; Roscilli, G.; Delmastro, P.; Jiricny, J.: Mismatch repair deficiency associated with overexpression of the MSH3 gene. Proc. Nat. Acad. Sci. 95: 8568-8573, 1998.
[0024711]15299.Nakajima, E.; Orimo, H.; Ikejima, M.; Shimada, T.: Nine-bp repeat polymorphism in exon 1 of the hMSH3 gene. Jpn. J. Hum. Genet. 40: 343-345, 1995.
[0024712]15300.Risinger, J. I.; Umar, A.; Boyd, J.; Berchuck, A.; Kunkel, T. A.; Barrett, J. C.: Mutation of MSH3 in endometrial cancer and evidence for its functional role in heteroduplex repair. Nature Genet. 14: 102-109, 1996.
[0024713]15301.Smith, M. L.; Mitchell, P. J.; Crouse, G. F.: Analysis of the mouse Dhfr/Rep-3 major promoter region by using linker-scanning and internal deletion mutations and DNase I footprinting. Molec. Cell. Biol. 10: 6003-6012, 1990.
[0024714]15302.Watanabe, A.; Ikejima, M.; Suzuki, N.; Shimada, T.: Genomic organization and expression of the human MSH3 gene. Genomics 31: 311-318, 1996.
[0024715]15303.Yin, J.; Kong, D.; Wang, S.; Zou, T.-T. Souza, R. F.; Smolinski, K. N.; Lynch, P. M.; Hamilton, S. R.; Sugimura, H.; Powell, S. M.; Young, J.; Abraham, J. M.; Meltzer, S. J.: Mutation of hMSH3 and hMSH6 mismatch repair genes in genetically unstable human colorectal and gastric carcinomas. Hum. Mutat. 10: 474-478, 1997.
[0024716]15304.Burger, B.; Uhlhaas, S.; Mangold, E.; Propping, P.; Friedl, W.; Jenne, D.; Dockter, G.; Back, W.: Novel de novo mutation of MADH4/SMAD4 in a patient with juvenile polyposis. (Letter) Am. J. Med. Genet. 110: 289-291, 2002.
[0024717]15305.Sakamoto, A.; Ono, K.; Abe, M.; Jasmin, G.; Eki, T.; Murakami, Y.; Masaki, T.; Toyooka, T.; Hanaoka, F.: Both hypertrophic and dilated cardiomyopathies are caused by mutation of the same gene, delta-sarcoglycan, in hamster: an animal model of disrupted dystrophin-associated glycoprotein complex. Proc. Nat. Acad. Sci. 94: 13873-13878, 1997.
[0024718]15306.Kurima, K.; Peters. L. M.; Yang, Y.; Riazuddin, S.; Ahmed, Z. M.; Naz, S.; Arnaud, D.; Drury, S.; Mo, J.; Makishima, T.; Ghosh, M.; Menon, P. S. N.; and 13 others: Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. Nature Genet. 30: 277-284, 2002.
[0024719]15307.Bryant, P. J.; Huettner, B.; Held, L. I., Jr.; Ryerse, J.; Szidonya, J.: Mutations at the fat locus interfere with cell proliferation control and epithelial morphogenesis in Drosophila. Dev. Biol. 129: 541-554, 1988.
[0024720]15308.Dunne, J.; Hanby, A. M.; Poulsom, R.; Jones, T. A.; Sheer, D.; Chin, W. G.; Da, S. M.; Zhao, Q.; Beverley, P. C. L.; Owen, M. J. : Molecular cloning and tissue expression of FAT, the human homologue of the Drosophila fat gene that is located on chromosome 4q34-q35 and encodes a putative adhesion molecule. Genomics 30: 207-223, 1995.
[0024721]15309.Hortsch, M.; Goodman, C. S.: Cell and substrate adhesion molecules in Drosophila. Ann. Rev. Cell. Biol. 7: 505-557, 1991.
[0024722]15310.Mahoney, P. A.; Weber, U.; Onofrechuk, P.; Biessmann, H.; Bryant, P. J.; Goodman, C. S.: The fat tumor suppressor gene in Drosophila encodes a novel member of the cadherin gene superfamily. Cell 67: 853-868, 1991.
[0024723]15311.Browning, J. L.; Ngam-ek, A.; Lawton, P.; DeMarinis, J.; Tizard, R.; Chow, E. P.; Hession, C.; O'Brine-Greco, B.; Foley, S. F.; Ware, C. F.: Lymphotoxin beta, a novel member of the TNF family that forms a heteromeric complex with lymphotoxin on the cell surface. Cell 72: 847-856, 1993.
[0024724]15312.Crowe, P. D.; VanArsdale, T. L.; Walter, B. N.; Ware, C. F.; Hession, C.; Ehrenfels, B.; Browning, J. L.; Din, W. S.; Goodwin, R. G; Smith, C. A.: A lymphotoxin-beta-specific receptor. Science 264: 707-710, 1994.
[0024725]15313.Nakamura, T.; Tashiro, K.; Nazarea, M.; Nakano, T.; Sasayama, S.; Honjo, T.: The murine lymphotoxin-beta receptor cDNA: isolation by the signal sequence trap and chromosomal mapping. Genomics 30: 312-319, 1995.
[0024726]15314.Warzocha, K.; Renard, N.; Charlot, C.; Bienvenu, J.; Coiffier, B.; Salles, G.: Identification of two lymphotoxin beta isoforms expressed in human lymphoid cell lines and non-Hodgkin's lymphomas. Biochem. Biophys. Res. Commun. 238: 273-276, 1997.
[0024727]15315.Tashiro, K.; Tada, H.; Heilker, R.; Shirozu, M.; Nakano, T.; Honjo, T.: Signal sequence trap: a cloning strategy for secreted proteins and type I membrane proteins. Science 261: 600-603, 1993.
[0024728]15316.George, A.; Sabsay, B.; Simonian, P. A.; Veis, A.: Characterization of a novel dentin matrix acidic phosphoprotein: implications for induction of biomineralization . J. Biol. Chem. 268: 12624-12630, 1993.
[0024729]15317.Hirst, K. L.; Simmons, D.; Feng, J.; Aplin, H.; Dixon, M. J.; MacDougall, M.: Elucidation of the sequence and the genomic organization of the human dentin matrix acidic phosphoprotein 1 (DMP1) gene: exclusion of the locus from a causative role in the pathogenesis of dentinogenesis imperfecta type II. Genomics 42: 38-45, 1997.
[0024730]15318.MacDougall, M.; DuPont, B. R.; Simmons, D.; Leach, R. J.: Assignment of DMP1 to human chromosome 4 band q21 by in situ hybridization. Cytogenet. Cell. Genet. 74: 189 only, 1996.
[0024731]15319.Lu, Z.; Xu, S.; Joazeiro, C.; Cobb, M. H.; Hunter, T.: The PHD domain of MEKK1 acts as an E3 ubiquitin ligase and mediates ubiquitination and degradation of ERK1/2. Molec. Cell 9: 945-956, 2002.
[0024732]15320.Xu, G. M.; Sikaneta, T.; Sullivan, B. M.; Zhang, Q.; Andreucci, M.; Stehle, T.; Drummond, I.; Arnaout, M. A.: Polycystin-1 interacts with intermediate filaments. J. Biol. Chem. 276: 46544-46552, 2001.
[0024733]15321.Zerres, K.; Rudnik-Schoneborn, S.; Deget, F.; Beetz, R.; Brodehl, J.; Kuwertz-Broking, E.; Muller-Wiefel, D.; Rascher, W.; Ruder, H.; Scharer, K.; Weber, H. P.: Childhood onset autosomal dominant polycystic kidney disease in sibs: clinical picture and recurrence risk. J. Med. Genet. 30: 583-588, 1993.
[0024734]15322.Barnard, R. C.; Pascall, J. C.; Brown, K. D.; McKay, I. A.; Williams, N. S.; Bustin, S. A.: Coding sequence of ERF-1, the human homologue of Tis11b/cMG1, members of the Tis11 family of early response genes. Nucleic Acids Res. 21: 3580 only, 1993.
[0024735]15323.Bustin, S. A.; Xiao-Feng, N.; Barnard, R. C.; Kumar, V.; Pascall, J. C.; Brown, K. D.; Leigh, I. M.; Williams, N. S.; McKay, I. A.: Cloning and characterisation of ERF1, a human member of the Tis11 family of early-response genes. DNA Cell Biol. 13: 449-459, 1994.
[0024736]15324.Maclean, K. N.; See, C. G.; McKay, I. A.; Bustin, S. A.: The human immediate early gene BRF1 maps to chromosome 14q22-q24. Genomics 30: 89-90, 1995.
[0024737]15325.Ning, Z.-Q.; Norton, J. D.; Li, J.; Murphy, J. J.: Distinct mechanisms for rescue from apoptosis in Ramos human B cells by signaling through CD40 and interleukin-4 receptor: a role for inhibition of an early response gene, Berg36. Europ. J. Immun. 26: 2356-2363, 1996.
[0024738]15326.Maas, S.; Kim, Y.-G.; Rich, A.: Genomic clustering of tRNA-specific adenosine deaminase ADAT1 and two tRNA synthetases. Mammalian Genome 12: 387-393, 2001.
[0024739]15327.Bolz, H.; von Brederlow, B.; Ramirez, A.; Bryda, E. C.; Kutsche, K.; Nothwang, H. G.; Seeliger, M.; Cabrera, M. C.-S.; Vila, M. C.; Molina, O. P.; Gal, A.; Kubisch, C.: Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. Nature Genet. 27: 108-112, 2001.
[0024740]15328.Bork, J. M.; Peters, L. M.; Riazuddin, S.; Bernstein, S. L.; Ahmed, Z. M.; Ness, S. L.; Polomeno, R.; Ramesh, A.; Schloss, M.; Srisailpathy, C. R. S.; Wayne, S.; Bellman, S.; and 16 others: Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. Am. J. Hum. Genet. 68: 26-37, 2001.
[0024741]15329.Derynck, R.; Gelbart, W. M.; Harland, R. M.; Heldin, C.-H.; Kern, S. E.; Massague, J.; Melton, D. A.; Mlodzik, M.; Padgett, R. W.; Roberts, A. B.; Smith, J.; Thomsen, G. H.; Vogelstein, B.; Wang, X.-F.: Nomenclature: vertebrate mediators of TGF-beta family signals. (Letter) Cell 87: 173 only, 1996.
[0024742]15330.Friedl, W.; Kruse, R.; Uhlhaas, S.; Stolte, M.; Schartmann, B.; Keller, K. M.; Jungck, M.; Stern, M.; Loff, S.; Back, W.; Propping, P.; Jenne, D. E.: Frequent 4-bp deletion in exon 9 of the SMAD4/MADH4 gene in familial juvenile polyposis patients. Genes Chromosomes Cancer 25: 403-406, 1999.
[0024743]15331.Hahn, S. A.; Schutte, M.; Hoque, T. M. S.; Moskaluk, C. A.; da Costa, L. T.; Rozenblum, E.; Weinstein, C. L.; Fischer, A.; Yeo, C. J.; Hruban, R. H.; Kern, S. E.: DPC4, a candidate tumor suppressor gene at human chromosome 18q21.1. Science 271: 350-354, 1996.
[0024744]15332.Howe, J. R.; Shellnut, J.; Wagner, B.; Ringold, J. C.; Sayed, M. G.; Ahmed, A. F.; Lynch, P. M.; Amos, C. I.; Sistonen, P.; Aaltonen, L. A.: Common deletion of SMAD4 in juvenile polyposis is a mutational hotspot. Am. J. Hum. Genet. 70: 1357-1362, 2002.
[0024745]15333.Inman, G. J.; Nicolas, F. J.; Hill, C. S.: Nucleocytoplasmic shuttling of Smads 2, 3, and 4 permits sensing of TGF-beta receptor activity. Molec. Cell 10: 283-294, 2002.
[0024746]15334.Kim, S. K.; Fan, Y.; Papadimitrakopoulou, V.; Clayman, G.; Hittelman, W. N.; Hong, W. K.; Lotan, R.; Mao, L.: DPC4, a candidate tumor suppressor gene, is altered infrequently in head and neck squamous cell carcinoma. Cancer Res. 56: 2519-2521, 1996.
[0024747]15335.Kinzler, K. W.; Vogelstein, B.: Landscaping the cancer terrain. Science 280: 1036-1037, 1998.
[0024748]15336.MacGrogan, D.; et al.; et al: Comparative mutational analysis of DPC4 (Smad4) in prostatic and colorectal carcinomas. Oncogene 15: 1111-1114, 1997.
[0024749]15337.Roth, S.; Johansson, M.; Loukola, A.; Peltomaki, P.; Jarvinen, H.; Mecklin, J.-P.; Aaltonen, L. A.: Mutation analysis of SMAD2, SMAD3, and SMAD4 genes in hereditary non-polyposis colorectal cancer. J. Med. Genet. 37: 298-300, 2000.
[0024750]15338.Schutte, M.; Hruban, R. H.; Hedrick, L.; Cho, K. R.; Nadasdy, G. M.; Weinstein, C. L.; Bova, G. S.; Isaacs, W. B.; Cairns, P.; Nawroz, H.; Sidransky, D.; Casero, R. A., Jr.; Meltzer, P. S.; Hahn, S. A.; Kern, S. E.: DPC4 gene in various tumor types. Cancer Res. 56: 2527-2530, 1996.
[0024751]15339.Shioda, T.; Lechleider, R. J.; Dunwoodie, S. L.; Li, H.; Yahata, T.; de Caestecker, M. P.; Fenner, M. H.; Roberts, A. B.; Isselbacher, K. J.: Transcriptional activating activity of Smad4: roles of SMAD hetero-oligomerization and enhancement by an associating transactivator. Proc. Nat. Acad. Sci. 95: 9785-9790, 1998.
[0024752]15340.Sirard, C.; de la Pompa, J. L.; Elia, A.; Itie, A.; Mirtsos, C.; Cheung, A.; Hahn, S.; Wakeham, A.; Schwartz, L.; Kern, S. E.; Rossant, J.; Mak, T. W.: The tumor suppressor gene Smad4/Dpc4 is required for gastrulation and later for anterior development of the mouse embryo. Genes Dev. 12: 107-119, 1998.
[0024753]15341.Tagaki, Y.; et al.; et al: Somatic alterations of the DPC4 gene in human colorectal cancers in vivo. Gastroenterology 111: 1369-1372, 1996.
[0024754]15342.Takaku, K.; Oshima, M.; Miyoshi, H.; Matsui, M.; Seldin, M. F.; Taketo, M. M.: Intestinal tumorigenesis in compound mutant mice of both Dpc4 (Smad4) and Apc genes. Cell 92: 645-656, 1998.
[0024755]15343.Thiagalingam, S.; Lengauer, C.; Leach, F. S.; Schutte, M.; Hahn, S. A.; Overhauser, J.; Willson, J. K. V.; Markowitz, S.; Hamilton, S. R.; Kern, S. E.; Kinzler, K. W.; Vogelstein, B.: Evaluation of candidate tumour suppressor genes on chromosome 18 in colorectal cancers. Nature Genet. 13: 343-346, 1996.
[0024756]15344.Zawel, L.; Dai, J. L.; Buckhaults, P.; Zhou, S.; Kinzler, K. W.; Vogelstein, B.; Kern, S. E.: Human Smad3 and Smad4 are sequence-specific transcription activators. Molec. Cell 1: 611-617, 1998.
[0024757]15345.Zhou, S.; Buckhaults, P.; Zawel, L.; Bunz, F.; Riggins, G.; Le Dai, J.; Kern, S. E.; Kinzler, K. W.; Vogelstein, B.: Targeted deletion of Smad4 shows it is required for transforming growth factor beta and activin signaling in colorectal cancer cells. Proc. Nat. Acad. Sci. 95: 2412-2416, 1998.
[0024758]15346.Abbs, S.; Roberts, R. G.; Mathew, C. G.; Bentley, D. R.; Bobrow, M.: Accurate assessment of intragenic recombination frequency within the Duchenne muscular dystrophy gene. Genomics 7: 602-606, 1990.
[0024759]15347.Ahn, A. H.; Kunkel, L. M.: The structural and functional diversity of dystrophin. Nature Genet. 3: 283-291, 1993.
[0024760]15348.Alwine, J. C.; Kemp, D. J.; Stark, G. R.: Method for detection of specific RNAs in agarose gels by transfer to diazobenzyloxymethyl-paper and by hybridization with DNA probes. Proc. Nat. Acad. Sci. 74: 5350-5354, 1977.
[0024761]15349.Angelini, C.; Beggs, A. H.; Hoffman, E. P.; Fanin, M.; Kunkel, L. M.: Enormous dystrophin in a patient with Becker muscular dystrophy. Neurology 40: 808-812, 1990.
[0024762]15350.Badorff, C.; Berkely, N.; Mehrotra, S.; Talhouk, J. W.; Rhoads, R. E.; Knowlton, K. U.: Enteroviral protease 2A directly cleaves dystrophin and is inhibited by a dystrophin-based substrate analogue. J. Biol. Chem. 275: 11191-11197, 2000.
[0024763]15351.Badorff, C.; Lee, G.-H.; Lamphear, B. J.; Martone, M. E.; Campbell, K. P.; Rhoads, R. E.; Knowlton, K. U.: Enteroviral protease 2A cleaves dystrophin: evidence of cytoskeletal disruption in an acquired cardiomyopathy. Nature Med. 5: 320-326, 1999.
[0024764]15352.Bakker, E.; Pearson, P. L.: Mutation of the Duchenne muscular dystrophy gene associated with meiotic recombination. (Letter) Clin. Genet. 30: 347-349, 1986.
[0024765]15353.Bakker, E.; Hofker, M. H.; Goor, N.; Mandel, J. L.; Wrogemann, K.; Davies, K. E.; Kunkel, L. M.; Willard, H. F.; Fenton, W. A.; Sandkuyl, L.; Majoor-Krakauer, D.; van Essen, A. J.; Jahoda, M. G. J.; Sachs, E. S.; van Ommen, G. J. B.; Pearson, P. L.: Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs. Lancet I: 655-658, 1985.
[0024766]15354.Bakker, E.; Van Broeckhoven, C.; Bonten, E. J.; van de Vooren, M. J.; Veenema, H.; Van Hul, W.; Van Ommen, G. J. B.; Vandenberghe, A.; Pearson, P. L.: Germline mosaicism and Duchenne muscular dystrophy mutations. Nature 329: 554-556, 1987.
[0024767]15355.Bar, S.; Barnea, E.; Levy, Z.; Neuman, S.; Yaffe, D.; Nudel, U. : A novel product of the Duchenne muscular dystrophy gene which greatly differs from the known isoforms in its structure and tissue distribution. Biochem. J. 272: 557-560, 1990.
[0024768]15356.Barbieri, A. M.; Soriani, N.; Tubiello, G. M.; Ferrari, M.; Carrera, P.: A nonsense mutation (gln-673-term) in exon 17 of the human dystrophin gene detected by heteroduplex analysis. Hum. Genet. 96: 343-344, 1995.
[0024769]15357.Bartlett, R. J.; Pericak-Vance, M. A.; Koh, J.; Yamaoka, L. H.; Chen, J. C.; Hung, W.-Y.; Speer, M. C.; Wapenaar, M. C.; Van Ommen, G. J. B.; Bakker, E.; Pearson, P. L.; Kandt, R. S.; Siddique, T.; Gilbert, J. R.; Lee, J. E.; Sirotkin-Roses, M. J.; Roses, A. D.: Duchenne muscular dystrophy: high frequency of deletions. Neurology 38: 1-4, 1988.
[0024770]15358.Barton-Davis, E. R.; Cordier, L.; Shoturma, D. I.; Leland, S. E.; Sweeney, H. L.: Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice. J. Clin. Invest. 104: 375-381, 1999.
[0024771]15359.Bastianutto, C.; Bestard, J. A.; Lahnakoski, K.; Broere, D.; De Visser, M.; Zaccolo, M.; Pozzan, T.; Ferlini, A.; Muntoni, F.; Patarnello, T.; Klamut, H. J.: Dystrophin muscle enhancer 1 is implicated in the activation of non-muscle isoforms in the skeletal muscle of patients with X-linked dilated cardiomyopathy. Hum. Molec. Genet. 10: 2627-2635, 2001.
[0024772]15360.Baumbach, L. L.; Chamberlain, J. S.; Ward, P. A.; Farwell, N. J.; Caskey, C. T.: Molecular and clinical correlation of deletion leading to Duchenne and Becker muscular dystrophies. Neurology 39: 465-474, 1989.
[0024773]15361.Baumbach, L. L.; Ward, P. A.; Fenwick, R.; Caskey, C. T.: Analysis of mutations at the Duchenne muscular dystrophy locus provides no evidence for illegitimate recombination in deletion formation. (Abstract) Am. J. Hum. Genet. 45 (suppl.): A173, 1989.
[0024774]15362.Beggs, A. H.; Koenig, M.; Boyce, F. M.; Kunkel, L. M.: Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum. Genet. 86: 45-48, 1990.
[0024775]15363.Berko, B. A.; Swift, M.: X-linked dilated cardiomyopathy. New Eng. J. Med. 316: 1186-1191, 1987.
[0024776]15364.Bettecken, T.; Muller, C. R.: Identification of a 220-kb insertion into the Duchenne gene in a family with an atypical course of muscular dystrophy. Genomics 4: 592-596, 1989.
[0024777]15365.Bies, R. D.: X-linked dilated cardiomyopathy. (Letter) New Eng. J. Med. 330: 368-369, 1994.
[0024778]15366.Bies, R. D.; Caskey, C. T.; Fenwick, R.: An intact cysteine-rich domain is required for dystrophin function. J. Clin. Invest. 90: 666-672, 1992.
[0024779]15367.Bittner, R. E.; Streubel, B.; Shorny, S.; Schaden, G.; Voit, T.; Hoger, H.: Coisogenic all-plus-one immunization: a model for identifying missing proteins in null-mutant conditions. Antibodies to dystrophin in mdx mouse after transplantation of muscle from normal coisogenic donor. Neuropediatrics 25: 176-182, 1994.
[0024780]15368.Bleyl, S. B.; Mumford, B. R.; Brown-Harrison, M.-C.; Pagotto, L. T.; Carey, J. C.; Pysher, T. J.; Ward, K.; Chin, T. K.: Xq28-linked noncompaction of the left ventricular myocardium: prenatal diagnosis and pathologic analysis of affected individuals. Am. J. Med. Genet. 72: 257-265, 1997.
[0024781]15369.Bleyl, S. B.; Mumford, B. R.; Thompson, V.; Carey, J. C.; Pysher, T. J.; Chin, T. K.; Ward, K.: Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome. Am. J. Hum. Genet. 61: 868-872, 1997.
[0024782]15370.Mohapatra, B.; Verma, S.; Shankar, S.; Suri, A.: Molecular cloning of human testis mRNA specifically expressed in haploid germ cells, having structural homology with the A-kinase anchoring proteins. Biochem. Biophys. Res. Commun. 244: 540-545, 1998.
[0024783]15371.Turner, R. M. O.; Johnson, L. R.; Haig-Ladewig, L.; Gerton, G. L.; Moss, S. B.: An Xlinked gene encodes a major human sperm fibrous sheath protein, hAKAP82: genomic organization, protein kinase A-RII binding, and distribution of the precursor in the sperm tail. J. Biol. Chem. 273: 32135-32141, 1998.
[0024784]15372.Dever, T. E.; Wei, C.-L.; Benkowski, L. A.; Browning, K.; Merrick, W. C.; Hershey, J. W. B.: Determination of the amino acid sequence of rabbit, human, and wheat germ protein synthesis factor eIF-4C by cloning and chemical sequencing. J. Biol. Chem. 269: 3212-3218, 1994.
[0024785]15373.Knebelmann, B.; Breillat, C.; Forestier, L.; Arrondel, C.; Jacassier, D.; Giatras, I.; Drouot, L; Deschenes, G.; Grunfeld, J.-P.; Broyer, M.; Gubler, M.-C.; Antignac, C.: Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome. Am. J. Hum. Genet. 59: 1221-1232, 1996.
[0024786]15374.Perkoff, G. T.; Stephens, F. E.; Dolowitz, D. A.; Tyler, F. H. : A clinical study of hereditary interstitial pyelonephritis. Arch. Intern. Med. 88: 191-200, 1951.
[0024787]15375.Lee, S.-H.; Kim, W.-H.; Kim, H.-K.; Woo, K.-M.; Nam, H.-S.; Kim, H.-S.; Kim, J.-G.; Cho, M.-H.: Altered expression of the fragile histidine triad gene in primary gastric adenocarcinomas. Biochem. Biophys. Res. Commun. 284: 850-855, 2001.
[0024788]15376.Markkanen, A.; Heinonen, K.; Knuutila, S.; de la Chapelle, A. : Methotrexate-induced increase in gap formation in human chromosome band 3p14. Hereditas 96: 317-319, 1982.
[0024789]15377.Markkanen, A.; Knuutila, S.; de la Chapelle, A.: Inducible fragile site on chromosome 3. (Letter) Hum. Genet. 65: 217 only, 1983.
[0024790]15378.Bell, M. V.; Hirst, M. C.; Nakahori, Y.; MacKinnon, R. N.; Roche, A.; Flint, T. J.; Jacobs, P. A.; Tommerup, N.; Tranebjaerg, L.; Froster-Iskenius, U.; Kerr, B.; Turner, G.; Lindenbaum, R. H.; Winter, R.; Pembrey, M.; Thibodeau, S.; Davies, K. E.: Physical mapping across the fragile X: hypermethylation and clinical expression of the fragile X syndrome. Cell 64: 861-866, 1991.
[0024791]15379.Matsumoto, T.; Imamura, O.; Yamabe, Y.; Kuromitsu, J.; Tokutake, Y.; Shimamoto, A.; Suzuki, N.; Satoh, M.; Kitao, S.; Ichikawa, K.; Kataoka, H.; Sugawara, K.; Thomas, W.; Mason, B.; Tsuchihashi, Z.; Drayna, D.; Sugawara, M.; Sugimoto, M.; Furuichi, Y.; Goto, M.: Mutation and haplotype analyses of the Werner's syndrome gene based on its genomic structure: genetic epidemiology in the Japanese population. Hum. Genet. 100: 123-130, 1997.
[0024792]15380.Filmus, J.; Shi, W.; Wong, Z. M.; Wong, M. J.: Identification of a new membranebound heparan sulphate proteoglycan. Biochem. J. 311: 561-565, 1995.
[0024793]15381.Zhou, J.; Hertz, J. M.; Tryggvason, K.: Mutation in the alpha-5(IV) collagen chain in juvenile-onset Alport syndrome without hearing loss or ocular lesions: detection by denaturing gradient gel electrophoresis of a PCR product. Am. J. Hum. Genet. 50: 1291-1300, 1992.
[0024794]15382.Bohler, M. C.; Seger, R. A.; Mouy, R.; Vilmer, E.; Fischer, A.; Griscelli, C.: A study of 25 patients with chronic granulomatous disease: a new classification by correlating respiratory burst, cytochrome b and flavoprotein. J. Clin. Immun. 6: 136-145, 1986.
[0024795]15383.Basler, E.; Grompe, M.; Parenti, G.; Caskey, C. T.; Ballabio, A.: Identification of point mutations in three patients with steroid sulfatase deficiency. (Abstract) Am. J. Hum. Genet. 47 (suppl.): A150, 1990.
[0024796]15384.Arranz, V.; Harper, F.; Florentin, Y.; Puvion, E.; Kress, M.; Ernoult-Lange, M.: Human and mouse MOK2 proteins are associated with nuclear ribonucleoprotein components and bind specifically to RNA and DNA through their zinc finger domains. Molec. Cell. Biol. 17: 2116-2126, 1997.
[0024797]15385.Arranz, V.; Kress, M.; Ernoult-Lange, M.: Localization of zinc finger Mok2 gene to mouse chromosome 6, a new region of homology with human chromosome 19. Mammalian Genome 7: 77-78, 1996.
[0024798]15386.Ernoult-Lange, M.; Arranz, V.; Le Conait, M.; Berger, R.; Kress, M.: Human and mouse Kruppel-like (MOK2) orthologue genes encode two different zinc finger proteins. J. Molec. Evol. 41: 784-794, 1995.
[0024799]15387.Yasunaga, S.; Grati, M.; Cohen-Salmon, M.; El-Amraoui, A.; Mustapha, M.; Salem, N.; El-Zir, E.; Loiselet, J.; Petit, C.: A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness. Nature Genet. 21: 363-369, 1999.
[0024800]15388.Berry, A.; Scott, H. S.; Kudoh, J.; Talior, I.; Korostishevsky, M.; Wattenhofer, M.; Guipponi, M.; Barras, C.; Rossier, C.; Shibuya, K.; Wang, J.; Kawasaki, K.; Asakawa, S.; Minoshima, S.; Shimizu, N.; Antonarakis, S.; Bonne-Tamir, B.: Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region. Genomics 68: 22-29, 2000.
[0024801]15389.Scott, H. S.; Kudoh, J.; Wattenhofer, M.; Shibuya, K.; Berry, A.; Chrast, R.; Guipponi, M.; Wang, J.; Kawasaki, K.; Asakawa, S.; Minoshima, S.; Younus, F.; and 10 others: Insertion of betasatellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness. Nature Genet. 27: 59-63, 2001.
[0024802]15390.Good, P. J.; Chen, Q.; Warner, S. J.; Herring, D. C.: A family of human RNA-binding proteins related to the Drosophila Bruno transcriptional regulator. J. Biol. Chem. 275: 28583-28592, 2000.
[0024803]15391.Roberts, R.; Timchenko, N. A.; Miller, J. W.; Reddy, S.; Caskey, C. T.; Swanson, M. S.; Timchenko, L. T.: Altered phosphorylation and intracellular distribution of a (CUG)n triplet repeat RNA-binding protein in patients with myotonic dystrophy and in myotonin protein kinase knockout mice. Proc. Nat. Acad. Sci. 94: 13221-13226, 1997.
[0024804]15392.Li, Z.; Jiang, H.; Xie, W.; Zhang, Z.; Smrcka, A. V.; Wu, D.: Roles of PLC-beta-2 and -beta-3 and PI3K-gamma in chemoattractant-mediated signal transduction. Science 287: 1046-1049, 2000.
[0024805]15393.Makita, N.; Sloan-Brown, K.; Weghuis, D. O.; Ropers, H. H.; George, A. L., Jr.: Genomic organization and chromosomal assignment of the human voltage-gated Na(+) channel beta-1 subunit gene (SCN1B). Genomics 23: 628-634, 1994.
[0024806]15394.Scheffer, I. E.; Berkovic, S. F.: Generalized epilepsy with febrile seizures plus: a genetic disorder with heterogeneous clinical phenotypes. Brain 120: 479-490, 1997.
[0024807]15395.Wallace, R. H.; Wang, D. W.; Singh, R.; Scheffer, I. E.; George, A. L., Jr.; Phillips, H. A.; Saar, K.; Reis, A.; Johnson, E. W.; Sutherland, G. R.; Berkovic, S. F.; Mulley, J. C.: Febrile seizures and generalized epilepsy associated with a mutation in the Na(+)-channel beta-1 subunit gene SCN1B. Nature Genet. 19: 366-370, 1998.
[0024808]15396.Gassmann, M.; Casagranda, F.; Orioli, D.; Simon, H.; Lai, C.; Klein, R.; Lemke, G.: Aberrant neural and cardiac development in mice lacking the ErbB4 neuregulin receptor. Nature 378: 390-394, 1995.
[0024809]15397.Golding, J. P.; Trainor, P.; Krumlauf, R.; Gassmann, M.: Defects in pathfinding by cranial neural crest cells in mice lacking the neuregulin receptor ErbB4. Nature Cell Biol. 2: 103-109, 2000.
[0024810]15398.Zimonjic, D. B.; Alimandi, M.; Miki, T.; Popescu, N. C.; Kraus, M. H.: Localization of the human HER4/erbB-4 gene to chromosome 2. Oncogene 10: 1235-1237, 1995.
[0024811]15399.Adibi, S. A.: The oligopeptide transporter (Pept-1) in human intestine: biology and function. Gastroenterology 113: 332-340, 1997.
[0024812]15400.Fei, Y. -J.; Kanai, Y.; Nussberger, S.; Ganapathy, V.; Leibach, F. H.; Romero, M. F.; Singh, S. K.; Boron, W. F.; Hediger, M. A.: Expression cloning of a mammalian proton-coupled oligopeptide transporter. Nature 368: 563-566, 1994.
[0024813]15401.Liang, R.; Fei, Y.-J.; Prasad, P. D.; Ramamoorthy, S.; Han, H.; Yang-Feng, T. L.; Hediger, M. A.; Ganapathy, V.; Leibach, F. H.: Human intestinal H(+)/peptide cotransporter: cloning, functional expression, and chromosomal localization. J. Biol. Chem. 270: 6456-6463, 1995.
[0024814]15402.Perry, S.; Harries, H.; Scholfield, C.; Lock, T.; King, L.; Gibson, G.; Goldfarb, P.: Molecular cloning and expression of a cDNA for human kidney cysteine conjugate beta-lyase. FEBS Lett. 360: 277-280, 1995.
[0024815]15403.Kaul, S. C.; Wadhwa, R.; Matsuda, Y.; Hensler, P. J.; Pereira-Smith, O. M.; Komatsu, Y.; Mitsui, Y.: Mouse and human chromosomal assignments of mortalin, a novel member of the murine hsp70 family of proteins. FEBS Lett. 361: 269-272, 1995.
[0024816]15404.Heiber, M.; Docherty, J. M.; Shah, G.; Nguyen, T.; Cheng, R.; Heng, H. H. Q.; Marchese, A.; Tsui, L.-C.; Shi, X.; George, S. R.; O'Dowd, B. F.: Isolation of three novel human genes encoding G protein-coupled receptors. DNA Cell Biol. 14: 25-35, 1995.
[0024817]15405.Mahadevan, M. S.; Baird, S.; Bailly, J. E.; Shutler, G. G.; Sabourin, L. A.; Tsilfidis, C.; Neville, C. E.; Narang, M.; Korneluk, R. G. : Isolation of a novel G protein-coupled receptor (GPR4) localized to chromosome 19q13.3. Genomics 30: 84-88, 1995.
[0024818]15406.Ye, R. D.; Prossnitz, E. R.; Zou, A.; Cochrane, C. G.: Characterization of a human cDNA that encodes a functional receptor for platelet activating factor. Biochem. Biophys. Res. Commun. 180: 105-111, 1991.
[0024819]15407.Hossain, A.; Saunders, G. F.: The human sex-determining gene SRY is a direct target of WT1. J. Biol. Chem. 276: 16817-16823, 2001.
[0024820]15408.Iida, T.; Nakahori, Y.; Komaki, R.; Mori, E.; Hayashi, N.; Tsutsumi, O.; Taketani, Y.; Nakagome, Y.: A novel missense mutation in the HMG box of the SRY gene in a patient with XY sex reversal. Hum. Molec. Genet. 3: 1437-1438, 1994.
[0024821]15409.Jager, R. J.; Harley, V. R.; Pfeiffer, R. A.; Goodfellow, P. N.; Scherer, G.: A familial mutation in the testis-determining gene SRY shared by both sexes. Hum. Genet. 90: 350-355, 1992.
[0024822]15410.Kawakura, K.; Miyake, Y.-I.; Murakami, R.-K.; Kondoh, S.; Hirata, T.-I.; Kaneda, Y.: Deletion of the SRY region on the Y chromosome detected in bovine gonadal hypoplasia (XY female) by PCR. Cytogenet. Cell Genet. 72: 183-184, 1996.
[0024823]15411.Lahr, G.; Maxson, S. C.; Mayer, A.; Just, W.; Pilgrim, C.; Reisert, I.: Transcription of the Y chromosomal gene, Sry, in adult mouse brain. Molec. Brain Res. 33: 179-182, 1995.
[0024824]15412.Li, B.; Zhang, W.; Chan, G.; Jancso-Radek, A.; Liu, S.; Weiss, M. A.: Human sex reversal due to impaired nuclear localization of SRY: a clinical correlation. J. Biol. Chem. 276: 46480-46484, 2001.
[0024825]15413.Lovell-Badge, R.; Robertson, E.: XY female mice resulting from a heritable mutation in the primary testis-determining gene, Tdy. Development 109: 635-646, 1990.
[0024826]15414.Margarit, E.; Coll, M. D.; Oliva, R.; Gomez, D.; Soler, A.; Ballesta, F.: SRY gene transferred to the long arm of the X chromosome in a Y-positive XX true hermaphrodite. Am. J. Med. Genet. 90: 25-28, 2000.
[0024827]15415.Mittwoch, U.: Sex determination and sex reversal: genotype, phenotype, dogma and semantics. Hum. Genet. 89: 467-479, 1992.
[0024828]15416.Muller, J.; Schwartz, M.; Skakkebaek, N. E.: Analysis of the sex-determining region of the Y-chromosome (SRY) in sex reversed patients: point-mutation in SRY causing sex-reversion in a 46,XY female. J. Clin. Endocr. Metab. 75: 331-333, 1992.
[0024829]15417.Peters, R.; King, C.-Y.; Ukiyama, E.; Falsafi, S.; Donahoe, P. K.; Weiss, M. A.: An SRY mutation causing human sex reversal resolves a general mechanism of structure-specific DNA recognition: application to the four-way DNA junction. Biochemistry 34: 4569-4576, 1995.
[0024830]15418.Schaffler, A.; Barth, N.; Winkler, K.; Zietz, B.; Rummele, P.; Knuchel, R.; Scholmerich, J.; Palitzsch, K.-D.: Identification of a new missense mutation (gly95glu) in a highly conserved codon within the high-mobility group box of the sex-determining region Y gene: report on a 46,XY female with gonadal dysgenesis and yolk-sac tumor. J. Clin. Endocr. Metab. 85: 2287-2292, 2000.
[0024831]15419.Schmitt-Ney, M.; Thiele, H.; Kaltwasser, P.; Bardoni, B.; Cisternino, M.; Scherer, G.: Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers. Am. J. Hum. Genet. 56: 862-869, 1995.
[0024832]15420.Sinclair, A. H.; Berta, P.; Palmer, M. S.; Hawkins, R.; Griffiths, B. L.; Smith, M.; Foster, J. W.; Frischauf, A.-M.; Lovell-Badge, R.; Goodfellow, P. N.: A gene from the human sexdetermining region encodes a protein with homology to a conserved DNA-binding motif.. Nature 346: 240-245, 1990.
[0024833]15421.Su, H.; Lau, Y.-F. C.: Identification of the transcriptional unit, structural organization, and promoter sequence of the human sex-determining region Y (SRY) gene, using a reverse genetic approach. Am. J. Hum. Genet. 52: 24-38, 1993.
[0024834]15422.Tucker, P. K.; Lundrigan, B. L.: Rapid evolution of the sex determining locus in Old World mice and rats. Nature 364: 715-717, 1993.
[0024835]15423.Uehara, S.; Funato, T.; Yaegashi, N.; Suzuki, H.; Sato, J.; Sasaki, T.; Yajima, A.: SRY mutation and tumor formation on the gonads of XY pure gonadal dysgenesis patients. Cancer Genet. Cytogenet. 113: 78-84, 1999.
[0024836]15424.Uehara, S.; Hashiyada, M.; Sato, K.; Nata, M.; Funato, T.; Okamura, K.: Complete XY gonadal dysgenesis and aspects of the SRY genotype and gonadal tumor formation. J. Hum. Genet. 47: 279-284, 2002.
[0024837]15425.Veitia, R.; Ion, A.; Barbaux, S.; Jobling, M. A.; Souleyreau, N.; Ennis, K.; Ostrer, H.; Tosi, M.; Meo, T.; Chibani, J.; Fellous, M.; McElreavey, K.: Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype. Hum. Genet. 99: 648-652, 1997.
[0024838]15426.Werner, M. H.; Huth, J. R.; Gronenborn, A. M.; Clore, G. M.: Molecular basis of human 46X,Y (sic) sex reversal revealed from the three-dimensional solution structure of the human SRY-DNA complex. Cell 81: 705-714, 1995.
[0024839]15427.Whitfield, L. S.; Lovell-Badge, R.; Goodfellow, P. N.: Rapid sequence evolution of the mammalian sex-determining gene SRY. Nature 364: 713-715, 1993.
[0024840]15428.Zeng, Y.; Ren, Z.; Zhang, M.; Huang, Y.; Zeng, F.; Huang, S.: A new de novo mutation (A113T) in HMG box of the SRY gene leads to XY gonadal dysgenesis. J. Med. Genet. 30: 655-657, 1993.
[0024841]15429.Zenteno, J. C.; Lopez, M.; Vera, C.; Mendez, J. P.; Kofman-Alfaro, S.: Two SRYnegative XX male brothers without genital ambiguity. Hum. Genet. 100: 606-610, 1997.
[0024842]15430.Henkemeyer, M.; Orioli, D.; Henderson, J. T.; Saxton, T. M.; Roder, J.; Pawson, T.; Klein, R.: Nuk controls pathfinding of commissural axons in the mammalian central nervous system. Cell 86: 35-46, 1996.
[0024843]15431.Ikegaki, N.; Tang, X. X.; Liu, X.-G.; Biegel, J. A.; Allen, C.; Yoshioka, A.; Sulman, E. P.; Brodeur, G. M.; Pleasure, D. E.: Molecular characterization and chromosomal localization of DRT (EPHT3): a developmentally regulated human protein-tyrosine kinase gene of the EPH family. Hum. Molec. Genet. 4: 2033-2045, 1995.
[0024844]15432.Saito, T.; Seki, N.; Matsuda, Y.; Kitahara, M.; Murata, M.; Kanda, N.; Nomura, N.; Yamamoto, T.; Hori, T.: Identification of the human ERK gene as a putative receptor tyrosine kinase and its chromosomal localization to 1p36.1: a comparative mapping of human, mouse, and rat chromosomes. Genomics 26: 382-384, 1995.
[0024845]15433.Wybenga-Groot, L. E.; Baskin, B.; Ong, S. H.; Tong, J.; Pawson, T.; Sicheri, F.: Structural basis for autoinhibition of the EphB2 receptor tyrosine kinase by the unphosphorylated juxtamembrane region. Cell 106: 745-757, 2001.
[0024846]15434.Elpeleg, O. N.; Hammerman, C.; Saada, A.; Shaag, A.; Golzand, E.; Hochner-Celnikier, D.; Berger, I.; Nadjari, M.: Antenatal presentation of carnitine palmitoyltransferase II deficiency. Am. J. Med. Genet. 102: 183-187, 2001.
[0024847]15435.Finocchiaro, G.; Taroni, F.; Rocchi, M.; Liras Martin, A.; Colombo, I.; Tarelli, G. T.; DiDonato, S.: cDNA cloning, sequence analysis, and chromosomal localization of the gene for human carnitine palmitoyltransferase. Proc. Nat. Acad. Sci. 88: 661-665, 1991.
[0024848]15436.Haap, M.; Thamer, C.; Machann, J.; Tschritter, O.; Loblein, K.; Kellerer, M.; Schick, F.; Jacob, S.; Haring, H.-U.; Stumvoll, M.: Metabolic characterization of a woman homozygous for the ser113leu missense mutation in carnitine palmitoyl transferase II. J. Clin. Endocr. Metab. 87: 2139-2143, 2002.
[0024849]15437.Handig, I.; Dams, E.; Taroni, F.; Van Laere, S.; de Barsy, T.; Willems, P. J.: Inheritance of the S113L mutation within an inbred family with carnitine palmitoyltransferase enzyme deficiency. Hum. Genet. 97: 291-293, 1996.
[0024850]15438.Martin, M. A.; Rubio, J. C.; De Bustos, F.; Del Hoyo, P.; Campos, Y.; Garcia, A.; Bornstein, B.; Cabello, A.; Arenas, J.: Molecular analysis in Spanish patients with muscle carnitine palmitoyltransferase deficiency. Muscle Nerve 22: 941-943, 1999.
[0024851]15439.Minoletti, F.; Colombo, I.; Liras Martin, A.; DiDonato, S.; Taroni, F.; Finocchiaro, G.; Pandolfo, M.: Localization of the human gene for carnitine palmitoyltransferase to 1p13-p11 by nonradioactive in situ hybridization. Genomics 13: 1372-1374, 1992.
[0024852]15440.Montermini, L.; Wang, H.; Verderio, E.; Taroni, F.; DiDonato, S.; Finocchiaro, G: Identification of 5-prime regulatory regions of the human carnitine palmitoyltransferase II gene. Biochim. Biophys. Acta 1219: 237-240, 1994.
[0024853]15441.Taroni, F.; Verderio, E.; Fiorucci, S.; Cavadini, P.; Finocchiaro, G.; Uziel, G.; Lamantea, E.; Gellera, C.; DiDonato, S.: Molecular characterization of inherited carnitine palmitoyltransferase II deficiency. Proc. Nat. Acad. Sci. 89: 8429-8433, 1992.
[0024854]15442.Verderio, E.; Cavadini, P.; Montermini, L.; Wang, H.; Lamantea, E.; Finocchiaro, G.; DiDonato, S.; Gellera, C.; Taroni, F.: Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations. Hum. Molec. Genet. 4: 19-29, 1995.
[0024855]15443.Vladutiu, G. D.; Bennett, M. J.; Smail, D.; Wong, L.-J.; Taggart, R. T.; Lindsley, H. B.: A variable myopathy associated with heterozygosity for the R503C mutation in the carnitine palmitoyltransferase II gene. Molec. Genet. Metab. 70: 134-141, 2000.
[0024856]15444.Vladutiu, G. D.; Taggart, R. T.; Smail, D.; Lindsley, H. B.; Hogan, K.: A carnitine palmitoyl transferase II (CPT2) arg503cys mutation confers malignant hyperthermia and variable myopathy. (Abstract) Am. J. Hum. Genet. 63 (suppl.): A5 only, 1998.
[0024857]15445.Yamamoto, S.; Abe, H.; Kohgo, T.; Ogawa, A.; Ohtake, A.; Hayashibe, H.; Sakuraba, H.; Suzuki, Y.; Aramaki, S.; Takayanagi, M.; Hasegawa, S.; Niimi, H.: Two novel gene mutations (glu174-to-lys, phe383-to-tyr) causing the 'hepatic' form of carnitine palmitoyltransferase II deficiency. Hum. Genet. 98: 116-118, 1996.
[0024858]15446.Johnson, D. F.; Hamon, M.; Fischel-Ghodsian, N.: Characterization of the human mitochondrial ribosomal S12 gene. Genomics 52: 363-368, 1998.
[0024859]15447.Shah, Z. H.; Migliosi, V.; Miller, S. C. M.; Wang, A.; Friedman, T. B.; Jacobs, H. T.: Chromosomal locations of three human nuclear genes (RPSM12, TUFM, and AFG3L1) specifying putative components of the mitochondrial gene expression apparatus. Genomics 48: 384-388, 1998.
[0024860]15448.Zhu, K.; Baudhuin, L. M.; Hong, G.; Williams, F. S.; Cristina, K. L.; Kabarowski, J. H. S.; Witte, O. N.; Xu, Y.: Sphingosylphosphorylcholine and lysophosphatidylcholine are ligands for the G protein-coupled receptor GPR4. J. Biol. Chem. 276: 41325-41335, 2001.
[0024861]15449.Vinik, B. S.; Kay, E. S.; Fiedorek, F. T., Jr.: Mapping of the MEK kinase gene (Mekk) to mouse chromosome 13 and human chromosome 5. Mammalian Genome 6: 782-783, 1995.
[0024862]15450.Yujiri, T.; Sather, S.; Fanger, G. R.; Johnson, G. L.: Role of MEKK1 in cell survival and activation of JNK and ERK pathways defined by targeted gene disruption. Science 282: 1911-1914, 1998.
[0024863]15451.Arriza, J. L.; Weinberger, C.; Cerelli, G.; Glaser, T. M.; Handelin, B. L.; Housman, D. E.; Evans, R. M.: Cloning of human mineralocorticoid receptor complementary DNA: structural and functional kinship with the glucocorticoid receptor. Science 237: 268-275, 1987.
[0024864]15452.Berger, S.; Bleich, M.; Schmid, W.; Cole, T. J.; Peters, J.; Watanabe, H.; Kriz, W.; Warth, R.; Greger, R.; Schutz, G.: Mineralocorticoid receptor knockout mice: pathophysiology of Na+ metabolism. Proc. Nat. Acad. Sci. 95: 9424-9429, 1998.
[0024865]15453.Fan, Y.-S.; Eddy, R. L.; Byers, M. G.; Haley, L. L.; Henry, W. M.; Nowak, N. J.; Shows, T. B.: The human mineralocorticoid receptor gene (MLR) is located on chromosome 4 at q31.2. Cytogenet. Cell Genet. 52: 83-84, 1989.
[0024866]15454.Geller, D. S.; Farhi, A.; Pinkerton, N.; Fradley, M.; Moritz, M.; Spitzer, A.; Meinke, G.; Tsai, F. T. F.; Sigler, P. B.; Lifton, R. P.: Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy. Science 289: 119-123, 2000.
[0024867]15455.Geller, D. S.; Rodriguez-Soriano, J.; Vallo Boado, A.; Schifter, S.; Bayer, M.; Chang, S. S.; Lifton, R. P.: Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I. Nature Genet. 19: 279-281, 1998.
[0024868]15456.Hellal-Levy, C.; Fagart, J.; Souque, A.; Wurtz, J.-M.; Moras, D.; Rafestin-Oblin, M.-E.: Crucial role of the H11-H12 loop in stabilizing the active conformation of the human mineralocorticoid receptor. Molec. Endocr. 14: 1210-1221, 2000.
[0024869]15457.Le Menuet, D.; Isnard, R.; Bichara, M.; Viengchareun, S.; Muffat-Joly, M.; Walker, F.; Zennaro, M.-C.; Lombes, M.: Alteration of cardiac and renal functions in transgenic mice overexpressing human mineralocorticoid receptor. J. Biol. Chem. 276: 38911-38920, 2001.
[0024870]15458.Morrison, N.; Harrap, S. B.; Arriza, J. L.; Boyd, E.; Connor, J. M.: Regional chromosomal assignment of the human mineralocorticoid receptor gene to 4q31.1. Hum. Genet. 85: 130-132, 1990.
[0024871]15459.Morrison, N.; Harrap, S. B.; Arriza, J. L.; Boyd, E.; Connor, J. M.: Regional chromosomal assignment of the human mineralocorticoid receptor gene to 4q31.1. (Abstract) Cytogenet. Cell Genet. 51: 1048, 1989.
[0024872]15460.Bristow, J.; Tee, M. K.; Gitelman, S. E.; Mellon, S. H.; Miller, W. L.: Tenascin-X: a novel extracellular matrix protein encoded by the human XB gene overlapping P450c21B. J. Cell Biol. 122: 265-278, 1993.
[0024873]15461.Jay, P.; Goze, C.; Marsollier, C.; Taviaux, S.; Hardelin, J.-P.; Koopman, P.; Berta, P.: The human SOX11 gene: cloning, chromosomal assignment and tissue expression. Genomics 29: 541-545, 1995.
[0024874]15462.Laudet, V.; Stehelin, D.; Clevers, H.: Ancestry and diversity of the HMG box superfamily. Nucleic Acids Res. 21: 2493-2501, 1993.
[0024875]15463.Weigt, C.; Gaertner, A.; Wegner, A.; Korte, H.; Meyer, H. E.: Occurrence of an actininserting domain in tensin. J. Molec. Biol. 227: 593-595, 1992.
[0024876]15464.Charest, A.; Wagner, J.; Muise, E. S.; Heng, H. H. Q.; Tremblay, M. L.: Structure of the murine MPTP-PEST gene: genomic organization and chromosomal mapping. Genomics 28: 501-507, 1995.
[0024877]15465.Takekawa, M.; Itoh, F.; Hinoda, Y.; Adachi, M.; Ariyama, T.; Inazawa, J.; Imai, K.; Yachi, A.: Chromosomal localization of the protein tyrosine phosphatase G1 gene and characterization of the aberrant transcripts in human colon cancer cells. FEBS Lett. 339: 222-228, 1994.
[0024878]15466.Takekawa, M.; Itoh, F.; Hinoda, Y.; Arimura, Y.; Toyota, M.; Sekiya, M.; Adachi, M.; Imai, K.; Yachi, A.: Cloning and characterization of a human cDNA encoding a novel putative cytoplasmic protein-tyrosine-phosphatase. Biochem. Biophys. Res. Commun. 189: 1223-1230, 1992.
[0024879]15467.Yang, Q.; Co, D.; Sommercorn, J.; Tonks, N. K.: Cloning and expression of PTPPEST: a novel, human, nontransmembrane protein tyrosine phosphatase. J. Biol. Chem. 268: 6622-6628, 1993.
[0024880]15468.Coopman, P. J. P.; Do, M. T. H.; Barth, M.; Bowden, E. T.; Hayes, A. J.; Basyuk, E.; Blancato, J. K.; Vezza, P. R.; McLeskey, S. W.; Mangeat, P. H.; Mueller, S. C.: The Syk tyrosine kinase suppresses malignant growth of human breast cancer cells. Nature 406: 742-747, 2000.
[0024881]15469.Inatome, R.; Yanagi, S.; Takano, T.; Yamamura, H.: A critical role for Syk in endothelial cell proliferation and migration. Biochem. Biophys. Res. Commun. 286: 195-199, 2001.
[0024882]15470.Mocsai, A.; Zhou, M.; Meng, F.; Tybulewicz, V. L.; Lowell, C. A. : Syk is required for integrin signaling in neutrophils. Immunity 16: 547-558, 2002.
[0024883]15471.Muller, B.; Cooper, L.; Terhorst, C.: Molecular cloning of the human homologue to the pig protein-tyrosine kinase syk. Immunogenetics 39: 359-362, 1994.
[0024884]15472.Taniguchi, T.; Kobayashi, T.; Kondo, J.; Takahashi, K.; Nakamura, H.; Suzuki, J.; Nagai, K.; Yamada, T.; Nakamura, S.; Yamamura, H. : Molecular cloning of a porcine gene syk that encodes a 72-kDa protein-tyrosine kinase showing high susceptibility to proteolysis. J. Biol. Chem. 266: 15790-15796, 1991.
[0024885]15473.Zioncheck, T. F.; Harrison, M. L.; Isaacson, C. C.; Geahlen, R. L.: Generation of an active protein-tyrosine kinase from lymphocytes by proteolysis. J. Biol. Chem. 263: 19195-19202, 1988.
[0024886]15474.Satre, M. A.; Zgombic-Knight, M.; Duester, G.: The complete structure of human class IV alcohol dehydrogenase (retinol dehydrogenase) determined from the ADH7 gene. J. Biol. Chem. 269: 15606-15612, 1994.
[0024887]15475.Yokoyama, H.; Baraona, E.; Lieber, C. S.: Molecular cloning and chromosomal localization of the ADH7 gene encoding human class IV (sigma) ADH. Genomics 31: 243-245, 1996.
[0024888]15476.Zgombic-Knight, M.; Foglio, M. H.; Duester, G.: Genomic structure and expression of the ADH7 gene encoding human class IV alcohol dehydrogenase, the form most efficient for retinol metabolism in vitro. J. Biol. Chem. 270: 4305-4311, 1995.
[0024889]15477.Bashir, M. M.; Abrams, W. R.; Tucker, T.; Sellinger, B.; Budarf, M.; Emanuel, B.; Rosenbloom, J.: Molecular cloning and characterization of the bovine and human tuftelin genes. Connect. Tissue Res. 39: 13-24, 1998.
[0024890]15478.Deutsch, D.: Structure and function of enamel gene products. Anat. Rec. 224: 189-210, 1989.
[0024891]15479.Beguin, P.; Nagashima, K.; Gonoi, T.; Shibasaki, T.; Takahashi, K.; Kashima, Y.; Ozaki, N.; Geering, K.; Iwanaga, T.; Seino, S.: Regulation of Ca(2+) channel expression at the cell surface by the small G-protein kir/Gem. Nature 411: 701-706, 2001.
[0024892]15480.Maguire, J.; Santoro, T.; Jensen, P.; Siebenlist, U.; Yewdell, J.; Kelly, K.: GEM: an induced, immediate early protein belonging to the Ras family. Science 265: 241-244, 1994.
[0024893]15481.Santoro, T.; Maguire, J.; McBride, O. W.; Avraham, K. B.; Copeland, N. G.; Jenkins, N. A.; Kelly, K.: Chromosomal organization and transcriptional regulation of human GEM and localization of the human and mouse Gem loci encoding an inducible Ras-like protein. Genomics 30: 558-564, 1995.
[0024894]15482.Inoue, I.; Taniuchi, I.; Kitamura, D.; Jenkins, N. A.; Gilbert, D. J.; Copeland, N. G.; Watanabe, T.: Characteristics of the mouse genomic histamine H1 receptor gene. Genomics 36: 178-181, 1996.
[0024895]15483.Le Coniat, M.; Traiffort, E.; Ruat, M.; Arrang, J.-M.; Berger, R.: Chromosomal localization of the human histamine H1-receptor gene. Hum. Genet. 94: 186-188, 1994.
[0024896]15484.Ma, R. Z.; Gao, J.; Meeker, N. D.; Fillmore, P. D.; Tung, K. S. K.; Watanabe, T.; Zachary, J. F.; Offner, H.; Blankenhorn, E. P.; Teuscher, C.: Identification of Bphs, an autoimmune disease locus, as histamine receptor H-1. Science 297: 620-623, 2002.
[0024897]15485.Yamashita, M.; Fukui, H.; Sugama, K.; Horio, Y.; Ito, S.; Mizuguchi, H.; Wada, H.: Expression cloning of a cDNA encoding the bovine histamine H1 receptor. Proc. Nat. Acad. Sci. 88: 11515-11519, 1991.
[0024898]15486.Gaudino, G.; Follenzi, A.; Naldini, L.; Collesi, C.; Santoro, M.; Gallo, K. A.; Godowski, P. J.; Comoglio, P. M.: RON is a heterodimeric tyrosine kinase receptor activated by the HGF homologue MSP. EMBO J. 13: 3524-3532, 1994.
[0024899]15487.Muraoka, R. S.; Sun, W. Y.; Colbert, M. C.; Waltz, S. E.; Witte, D. P.; Degen, J. L.; Degen, S. J. F.: The Ron/STK receptor tyrosine kinase is essential for peri-implantation development in the mouse. J. Clin. Invest. 103: 1277-1285, 1999.
[0024900]15488.Ronsin, C.; Muscatelli, F.; Mattei, M.-G.; Breathnach, R.: A novel putative receptor protein tyrosine kinase of the met family. Oncogene 8: 1195-1202, 1993.
[0024901]15489.Santoro, M. M.; Collesi, C.; Grisendi, S.; Gaudino, G.; Comoglio, P. M.: Constitutive activation of the RON gene promotes invasive growth but not transformation. Molec. Cell. Biol. 16: 7072-7083, 1996.
[0024902]15490.Wang, M.-H.; Ronsin, C.; Gesnel, M.-C.; Coupey, L.; Skeel, A.; Leonard, E. J.; Breathnach, R.: Identification of the RON gene product as the receptor for the human macrophage stimulating protein. Science 266: 117-119, 1994.
[0024903]15491.Bauer, S.; Groh, V.; Wu, J.; Steinle, A.; Phillips, J. H.; Lanier, L. L.; Spies, T.: Activation of NK cells and T cells by NKG2D, a receptor for stress-inducible MICA. Science 285: 727-729, 1999.
[0024904]15492.Diefenbach, A.; Jensen, E. R.; Jamieson, A. M.; Raulet, D. H.: Rae1 and H60 ligands of the NKG2D receptor stimulate tumour immunity. Nature 413: 165-171, 2001.
[0024905]15493.Girardi, M.; Oppenheim, D. E.; Steele, C. R.; Lewis, J. M.; Glusac, E.; Filler, R.; Hobby, P.; Sutton, B.; Tigelaar, R. E.; Hayday, A. C.: Regulation of cutaneous malignancy by gammadelta T cells. Science 294: 605-609, 2001.
[0024906]15494.Groh, V.; Rhinehart, R.; Randolph-Habecker, J.; Topp, M. S.; Riddell, S. R.; Spies, T.: Costimulation of CD8-alpha-beta T cells by NKG2D via engagement by MIC induced on virus-infected cells. Nature Immun. 2: 255-260, 2001.
[0024907]15495.Groh, V.; Steinle, A.; Bauer, S.; Spies, T.: Recognition of stress-induced MHC molecules by intestinal epithelial gamma-delta T cells. Science 279: 1737-1740, 1998.
[0024908]15496.Groh, V.; Wu, J.; Yee, C.; Spies, T.: Tumour-derived soluble MIC ligands impair expression of NKG2D and T-cell activation. Nature 419: 734-738, 2002.
[0024909]15497.Li, P.; Morris, D. L.; Willcox, B. E.; Steinle, A.; Spies, T.; Strong, R. K.: Complex structure of the activating immunoreceptor NKG2D and its MHC class I-like ligand MICA. Nature Immun. 2: 443-451, 2001.
[0024910]15498.Nakashima, T.; Sekiguchi, T.; Kuraoka, A.; Fukushima, K.; Shibata, Y.; Komiyama, S.; Nishimoto, T.: Molecular cloning of a human cDNA encoding a novel protein, DAD1, whose defect causes apoptotic cell death in hamster BHK21 cells. Molec. Cell. Biol. 13: 6367-6374, 1993.
[0024911]15499.Ylug, I. G.; See, C. G.; Fisher, E. M. C.: The DAD1 protein, whose defect causes apoptotic cell death, maps to human chromosome 14. Genomics 26: 433-435, 1995. Note: Erratum: Genomics: 28: 129 only, 1995.
[0024912]15500.Yulug, I. G.; See, C. G.; Fisher, E. M. C.: The DAD1 protein, whose defect causes apoptotic cell death, maps to human chromosome 14. Genomics 26: 433-435, 1995.
[0024913]15501.Jepsen, K. J.; Wu, F.; Peragallo, J. H.; Paul, J.; Roberts, L.; Ezura, Y.; Oldberg, A.; Birk, D. E.; Chakravarti, S.: A syndrome of joint laxity and impaired tendon integrity in lumican- and fibromodulin-deficient mice. J. Biol. Chem. 277: 35532-35540, 2002.
[0024914]15502.Sztrolovics, R.; Chen, X.-N.; Grover, J.; Roughley, P. J.; Korenberg, J. R.: Localization of the human fibromodulin gene (FMOD) to chromosome 1q32 and completion of the cDNA sequence. Genomics 23: 715-717, 1994.
[0024915]15503.Dalton, S.; Treisman, R.: Characterization of SAP-1, a protein recruited by serum response factor to the c-fos serum response element. Cell 68: 597-612, 1992.
[0024916]15504.Mo, Y.; Vaessen, B.; Johnston, K.; Marmorstein, R.: Structures of SAP-1 bound to DNA targets from the E74 and c-fos promoters: insights into DNA sequence discrimination by Ets proteins. Molec. Cell 2: 201-212, 1998.
[0024917]15505.Shipley, J.; Sheer, D.; Dalton, S.; Treisman, R.; Patel, K.: Mapping of the human SAP1 (SRF accessory protein 1) gene and SAP2, a gene encoding a related protein, to chromosomal bands 1q32 and 12q23, respectively. Genomics 23: 710-711, 1994.
[0024918]15506.Ikeuchi, T.; Asaka, T.; Saito, M.; Tanaka, H.; Higuchi, S.; Tanaka, K.; Saida, K.; Uyama, E.; Mizusawa, H.; Fukuhara, N.; Nonaka, I.; Takamori, M.; Tsuji, S.: Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9. Ann. Neurol. 41: 432-437, 1997.
[0024919]15507.Erickson, J. D.; Varoqui, H.; Schafer, M. K.-H.; Modi, W.; Diebler, M.-F.; Weihe, E.; Rand, J.; Eiden, L. E.; Bonner, T. I.; Usdin, T. B.: Functional identification of a vesicular acetylcholine transporter and its expression from a 'cholinergic' gene locus. J. Biol. Chem. 269: 21929-21932, 1994.
[0024920]15508.Probst, M. R.; Beer, M.; Beer, D.; Jeno, P.; Meyer, U. A.; Gasser, R.: Human liver arylacetamide deacetylase: molecular cloning of a novel esterase involved in the metabolic activation of arylamine carcinogens with high sequence similarity to hormone-sensitive lipase. J. Biol. Chem. 269: 21650-21656, 1994.
[0024921]15509.Yamazaki, K.; Kusano, K.; Tadano, K.; Tanaka, I.: Radiation hybrid mapping of human arylacetamide deacetylase (AADAC) locus to chromosome 3. Genomics. 44: 248-50, 1997.
[0024922]15510.Worman, H. J.; Yuan, J.; Blobel, G.; Georgatos, S. D.: A lamin B receptor in the nuclear envelope. Proc. Nat. Acad. Sci. 85: 8531-8534, 1988.
[0024923]15511.Tanahashi, H.; Tabira, T.: Alzheimer's disease-associated presenilin 2 interacts with DRAL, an LIM-domain protein. Hum. Molec. Genet. 9: 2281-2289, 2000.
[0024924]15512.Erkinheimo, T.-L.; Saukkonen, K.; Narko, K.; Jalkanen, J.; Ylikorkala, O.; Ristimaki, A.: Expression of cyclooxygenase-2 and prostanoid receptors by human myometrium. J. Clin. Endocr. Metab. 85: 3468-3475, 2000.
[0024925]15513.Hla, T.; Neilson, K.: Human cyclooxygenase-2 cDNA. Proc. Nat. Acad. Sci. 89: 7384-7388, 1992.
[0024926]15514.Jones, D. A.; Carlton, D. P.; McIntyre, T. M.; Zimmerman, G. A.; Prescott, S. M.: Molecular cloning of human prostaglandin endoperoxide synthase type II and demonstration of expression in response to cytokines. J. Biol. Chem. 268: 9049-9054, 1993.
[0024927]15515.Kraemer, S. A.; Meade, E. A.; DeWitt, D. L.: Prostaglandin endoperoxide synthase gene structure: identification of the transcriptional start site and 5-prime-flanking regulatory sequences. Arch. Biochem. Biophys. 293: 391-400, 1992.
[0024928]15516.Lassus, P.; Wolff, H.; Andersson, S.: Cyclooxygenase-2 in human perinatal lung. Pediat. Res. 47: 602-605, 2000.
[0024929]15517.Lim, H.; Paria, B. C.; Das, S. K.; Dinchuk, J. E.; Langenbach, R.; Trzaskos, J. M.; Dey, S. K.: Multiple female reproductive failures in cyclooxygenase 2-deficient mice. Cell 91: 197-208, 1997.
[0024930]15518.Morrow, J. A.; Collie, I. T.; Dunbar, D. R.; Walker, G. B.; Shahid, M.; Hill, D. R.: Molecular cloning and functional expression of the human glycine transporter GlyT2 and chromosomal localisation of the gene in the human genome. FEBS Lett. 439: 334-340, 1998.
[0024931]15519.Iacobazzi, V.; Palmieri, F.; Runswick, M. J.; Walker, J. E.: Sequences of the human and bovine genes for the mitochondrial 2-oxoglutarate carrier. DNA Seq. 3: 79-88, 1992.
[0024932]15520.Piccininni, S.; Iacobazzi, V.; Lauria, G.; Rocchi, M.; Palmieri, F.: Assignment of the oxoglutarate carrier gene (SLC20A4) to human chromosome 17p13.3. Cytogenet. Cell Genet. 83: 256-257, 1998.
[0024933]15521.Harvey, T. J.; Hooper, J. D.; Myers, S. A.; Stephenson, S.-A.; Ashworth, L. K.; Clements, J. A.: Tissue-specific expression patterns and fine mapping of the human kallikrein (KLK) locus on proximal 19q13.4. J. Biol. Chem. 275: 37397-37406, 2000.
[0024934]15522.Chaudhry, F. A.; Reimer, R. J.; Krizaj, D.; Barber, D.; Storm-Mathisen, J.; Copenhagen, D. R.; Edwards, R. H.: Molecular analysis of system N suggests novel physiological roles in nitrogen metabolism and synaptic transmission. Cell 99: 769-780, 1999.
[0024935]15523.Yamada, K.; Nishida, K.; Hibi, M.; Hirano, T.; Matsuda, Y.: Comparative FISH mapping of Gab1 and Gab2 genes in human, mouse and rat. Cytogenet. Cell Genet. 94: 39-42, 2001.
[0024936]15524.Afonina, E.; Stauber, R.; Pavlakis, G. N.: The human poly(A)-binding protein 1 shuttles between the nucleus and the cytoplasm. J. Biol. Chem. 273: 13015-13021, 1998.
[0024937]15525.Deo, R. C.; Bonanno, J. B.; Sonenberg, N.; Burley, S. K.: Recognition of polyadenylate RNA by the poly(A)-binding protein. Cell 98: 835-845, 1999.
[0024938]15526.Gorlach, M.; Burd, C. G.; Dreyfuss, G.: The mRNA poly(A)-binding protein: localization, abundance, and RNA-binding specificity. Exp. Cell Res. 211: 400-407, 1994.
[0024939]15527.Grange, T.; Martins de Sa, C.; Oddos, J.; Pictet, R.: Human mRNA polyadenylate binding protein: evolutionary conservation of a nucleic acid binding motif. Nucleic Acids Res. 15: 4771-4787, 1987.
[0024940]15528.Feral, C.; Guellaen, G.; Pawlak, A.: Human testis expresses a specific poly(A)-binding protein. Nucleic Acids Res. 29: 1872-1883, 2001.
[0024941]15529.Danpure, C. J.; Purdue, P. E.; Fryer, P.; Griffiths, S.; Allsop, J.; Lumb, M. J.; Guttridge, K. M.; Jennings, P. R.; Scheinman, J. I.; Mauer, S. M.; Davidson, N. O.: Enzymological and mutational analysis of a complex primary hyperoxaluria type I phenotype involving alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting and intraperoxisomal aggregation. Am. J. Hum. Genet. 53: 417-432, 1993.
[0024942]15530.Mori, M.; Oda, T.; Nishiyama, K.; Serikawa, T.; Yamada, J.; Ichiyama, A.: A single serine:pyruvate aminotransferase gene on rat chromosome 9q34-q36. Genomics 13: 686-689, 1992.
[0024943]15531.Purdue, P. E.; Allsop, J.; Isaya, G.; Rosenberg, L. E.; Danpure, C. J.: Mistargeting of peroxisomal L-alanine:glyoxylate aminotransferase to mitochondria in primary hyperoxaluria patients depends upon activation of a cryptic mitochondrial targeting sequence by a point mutation. Proc. Nat. Acad. Sci. 88: 10900-10904, 1991.
[0024944]15532.Purdue, P. E.; Lumb, M. J.; Allsop, J.; Minatogawa, Y.; Danpure, C. J.: A glycine-toglutamate substitution abolishes alanine:glyoxylate aminotransferase catalytic activity in a subset of patients with primary hyperoxaluria type 1. Genomics 13: 215-218, 1992.
[0024945]15533.Purdue, P. E.; Takada, Y.; Danpure, C. J.: Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1. J. Cell Biol. 111: 2341-2351, 1990.
[0024946]15534.Takada, Y.; Kaneko, N.; Esumi, H.; Purdue, P. E.; Danpure, C. J.: Human peroxisomal L-alanine:glyoxylate aminotransferase: evolutionary loss of a mitochondrial targeting signal by point mutation of the initiation codon. Biochem. J. 268: 517-520, 1990.
[0024947]15535.von Schnakenburg, C.; Rumsby, G.: Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene. J. Med. Genet. 34: 489-492, 1997.
[0024948]15536.Kobayashi, H.; Hino, M.; Shimodahira, M.; Iwakura, T.; Ishihara, T.; Ikekubo, K.; Ogawa, Y.; Nakao, K.; Kurahachi, H.: Missense mutation of TRPS1 in a family of tricho-rhinophalangeal syndrome type III. Am. J. Med. Genet. 107: 26-29, 2002.
[0024949]15537.Yoshida, A.; Minowa, M. T.; Takamatsu, S.; Hara, T.; Ikenaga, H.; Takeuchi, M.: A novel second isoenzyme of the human UDP-N-acetylglucosamine:alpha-1,3-D-mannoside beta-1,4-Nacetylglucosaminyltransferase family: cDNA cloning, expression, and chromosomal assignment. Glycoconj. J. 15: 1115-1123, 1998.
[0024950]15538.Jakobsson, P.-J.; Mancini, J. A.; Riendeau, D.; Ford-Hutchinson, A. W.: Identification and characterization of a novel microsomal enzyme with glutathione-dependent transferase and peroxidase activities. J. Biol. Chem. 272: 22934-22939, 1997.
[0024951]15539.Poliak, S.; Gollan, L.; Martinez, R.; Custer, A.; Einheber, S.; Salzer, J. L.; Trimmer, J. S.; Shrager, P.; Peles, E.: Caspr2, a new member of the neurexin superfamily, is localized at the juxtaparanodes of myelinated axons and associates with K+ channels. Neuron 24: 1037-1047, 1999.
[0024952]15540.Hata, M.; Ohtsuka, K.: Characterization of HSE sequences in human Hsp40 gene: structural and promoter analysis. Biochim. Biophys. Acta 1397: 43-55, 1998.
[0024953]15541.Hata, M.; Okumura, K.; Seto, M.; Ohtsuka, K.: Genomic cloning of a human heat shock protein 40 (Hsp40) gene (HSPF1) and its chromosomal localization to 19p13.2. Genomics 38: 446-449, 1996.
[0024954]15542.Ohtsuka, K.: Cloning of a cDNA for heat-shock protein hsp40, a human homologue of bacterial DnaJ. Biochem. Biophys. Res. Commun. 197: 235-240, 1993.
[0024955]15543.Sultzer, B. M.: Genetic control of leucocyte responses to endotoxin. Nature 219: 1253-1254, 1968.
[0024956]15544.Donger, C.; Krejci, E.; Serradell, A. P.; Eymard, B.; Bon, S.; Nicole, S.; Chateau, D.; Gary, F.; Fardeau, M.; Massoulie, J.; Guicheney, P.: Mutation in the human acetylcholinesteraseassociated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (type Ic). Am. J. Hum. Genet. 63: 967-975, 1998.
[0024957]15545.Krejci, E.; Coussen, F.; Duval, N.; Chatel, J.-M.; Legay, C.; Puype, M.; Vandekerckhove, J.; Cartaud, J.; Bon, S.; Massoulie, J.: Primary structure of a collagenic tail peptide of torpedo acetylcholinesterase: co-expression with catalytic subunit induces the production of collagentailed forms in transfected cells. EMBO J. 10: 1285-1293, 1991.
[0024958]15546.Krejci, E.; Thomine, S.; Boschetti, N.; Legay, C.; Sketelj, J.; Massoulie, J.: The mammalian gene of acetylcholinesterase-associated collagen. J. Biol. Chem. 272: 22840-22847, 1997.
[0024959]15547.Ohno, K.; Brengman, J. M.; Felice, K. J.; Cornblath, D. R.; Engel, A. G.: Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-to-G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing? Am. J. Hum. Genet. 65: 635-644, 1999.
[0024960]15548.Muravenko, O. V.; Gizatullin, R. Z.; Protopopov, A. I.; Kashuba, V. I.; Zabarovsky, E. R.; Zelenin, A. V.: Assignment of CDK5R2 coding for the cyclin-dependent kinase 5, regulatory subunit 2 (NCK5AI protein) to human chromosome band 2q35 by fluorescent in situ hybridization. Cytogenet. Cell Genet. 89: 160-161, 2000.
[0024961]15549.Nilden, F.; Backstrom, A.; Bark, C.: Molecular cloning and characterisation of a mouse gene encoding an isoform of the neuronal cyclin-dependent kinase 5 (CDK5) activator. Biochim. Biophys. Acta 1398: 371-376, 1998.
[0024962]15550.Tang, D.; Yeung, J.; Lee, K-Y.; Matsushita, M.; Matsui, H.; Tomizawa, K.; Hatase, O.; Wang, J. H.: An isoform of the neuronal cyclin-dependent kinase 5 (Cdk5) activator. J. Biol. Chem. 270: 26897-26903, 1995.
[0024963]15551.Fujioka, M.; Takahashi, N.; Odai, H.; Araki, S.; Ichikawa, K.; Feng, J.; Nakamura, M.; Kaibuchi, K.; Hartshorne, D. J.; Nakano, T.; Ito, M.: A new isoform of human myosin phosphatase targeting/regulatory subunit (MYPT2): cDNA cloning, tissue expression, and chromosomal mapping. Genomics 49: 59-68, 1998.
[0024964]15552.Hallas, C.; Pekarsky, Y.; Itoyama, T.; Varnum, J.; Bichi, R.; Rothstein, J. L.; Croce, C. M.: Genomic analysis of human and mouse TCL1 loci reveals a complex of tightly clustered genes. Proc. Nat. Acad. Sci. 96: 14418-14423, 1999.
[0024965]15553.Pekarsky, Y.; Hallas, C.; Isobe, M.; Russo, G.; Croce, C. M.: Abnormalities at 14q32.1 in T cell malignancies involve two oncogenes. Proc. Nat. Acad. Sci. 96: 2949-2951, 1999.
[0024966]15554.Koga, Y.; Fabrizi, G. M.; Mita, S.; Arnaudo, E.; Lomax, M. I.; Aqua, M. S.; Grossman, L. I.; Schon, E. A.: Sequence of a cDNA specifying subunit VIIc of human cytochrome c oxidase. Nucleic Acids Res. 18: 684 only, 1990.
[0024967]15555.Harju, K.; Glumoff, V.; Hallman, M.: Ontogeny of Toll-like receptors Tlr2 and Tlr4 in mice. Pediat. Res. 49: 81-83, 2001.
[0024968]15556.Qu, L. H.; Nicoloso, M.; Michot, B.; Azum, M. C.; Caizergues-Ferrer, M.; Renalier, M. H.; Bachellerie, J. P.: U21, a novel small nucleolar RNA with a 13 nt. complementarity to 28S rRNA, is encoded in an intron of ribosomal protein L5 gene in chicken and mammals. Nucleic Acids Res. 22: 4073-4081, 1994.
[0024969]15557.Smith, M.; Wasmuth, J.; McPherson, J. D.; Wagner, C.; Grandy, D.; Civelli, O.; Potkin, S.; Litt, M.: Cosegregation of an 11q22.3-9p22 translocation with affective disorder: proximity of the dopamine D2 receptor gene relative to the translocation breakpoint. (Abstract) Am. J. Hum. Genet. 45 (suppl.): A220 only, 1989.
[0024970]15558.Abuladze, N.; Lee, I.; Newman, D.; Hwang, J.; Boorer, K.; Pushkin, A.; Kurtz, I.: Molecular cloning, chromosomal localization, tissue distribution, and functional expression of the human pancreatic sodium bicarbonate cotransporter. J. Biol. Chem. 273: 17689-17695, 1998.
[0024971]15559.Burnham, C. E.; Amlal, H.; Wang, Z.; Shull, G. E.; Soleimani, M. : Cloning and functional expression of a human kidney Na+:HCO3- cotransporter. J. Biol. Chem. 272: 19111-19114, 1997.
[0024972]15560.Choi, I.; Romero, M. F.; Khandoudi, N.; Bril, A.; Boron, W. F. : Cloning and characterization of a human electrogenic Na(+)-HCO(3-) cotransporter isoform (hhNBC). Am. J. Physiol. 276: C576-C584, 1999.
[0024973]15561.Igarashi, T.; Inatomi, J.; Sekine, T.; Cha, S. H.; Kanai, Y.; Kunimi, M.; Tsukamoto, K.; Satoh, H.; Shimadzu, M.; Tozawa, F.; Mori, T.; Shiobara, M.; Seki, G.; Endou, H.: Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities. (Letter) Nature Genet. 23: 264-265, 1999.
[0024974]15562.Romero, M. F.; Boron, W. F.: Electrogenic Na(+)/HCO(3-) cotransporters: cloning and physiology. Annu. Rev. Physiol. 61: 699-723, 1999.
[0024975]15563.Soleimani, M.; Burnham, C. E.: Physiologic and molecular aspects of the Na(+):HCO(3-) cotransporter in health and disease processes. Kidney Int. 57: 371-384, 2000.
[0024976]15564.Usui, T.; et al.; et al. :Pflugers Arch. 438: 458-462, 1999.
[0024977]15565.Hayes, S. E.; Conner, L. J.; Stramm, L. E.; Shi, Y.: Assignment of pancreatic eIF-2a kinase (EIF2AK3) to human chromosome band 2p12 by radiation hybrid mapping and in situ hybridization. Cytogenet. Cell Genet. 86: 327-328, 1999.
[0024978]15566.Avraham, K. B.; Cho, B. C.; Gilbert, D.; Fujii, H.; Okamoto, K.; Shimazaki, T.; Ito, T.; Shoji, H.; Wakamatsu, Y.; Kondoh, H.; Takahashi, N.; Muramatsu, M.; Hamada, H.; Copeland, N. G.; Jenkins, N. A.: Murine chromosomal location of four class III POU transcription factors. Genomics 18: 131-133, 1993.
[0024979]15567.Egan, S.; Herbrick, J.-A.; Tsui, L.-C.; Cohen, B.; Flock, G.; Beatty, B.; Scherer, S. W.: Mapping of the human lunatic fringe (LFNG) gene to 7p22 and manic fringe (MFNG) to 22q12. Genomics 54: 576-577, 1998.
[0024980]15568.Johnston, S. H.; Rauskolb, C.; Wilson, R.; Prabhakaran, B.; Irvine, K. D.; Vogt, T. F.: A family of mammalian Fringe genes implicated in boundary determination and the Notch pathway. Development 124: 2245-2254, 1997.
[0024981]15569.Moran, J. L.; Johnston, S. H.; Rauskolb, C.; Bhalerao, J.; Bowcock, A. M.; Vogt, T. F.: Genomic structure, mapping, and expression analysis of the mammalian lunatic, manic, and radical fringe genes. Mammalian Genome 10: 535-541, 1999.
[0024982]15570.Van Tine, B. A.; Knops, J.; Shaw, G. M.; May, W. A.: Assignment of human MFNG, manic fringe Drosophila homolog, to 22q13.1 using tyramide fluorescence in situ hybridization (T-FISH). Cytogenet. Cell Genet. 87: 132-133, 1999.
[0024983]15571.Laufer, E.; Dahn, R.; Orozco, O. E.; Yeo, C.-Y.; Pisenti, J.; Henrique, D.; Abbott, U. K.; Fallon, J. F.; Tabin, C.: Expression of Radical fringe in limb-bud ectoderm regulates apical ectodermal ridge formation. Nature 386: 366-373, 1997.
[0024984]15572.Rodriguez-Esteban, C.; Schwabe, J. W. R.; De La Pena, J.; Foys, B.; Eshelman, B.; Izpisua Belmonte, J. C.: Radical fringe positions the apical ectodermal ridge at the dorsoventral boundary of the vertebrate limb. Nature 386: 360-366, 1997.
[0024985]15573.Wiley, S. R.; Cassiano, L.; Lofton, T.; Davis-Smith, T.; Winkles, J. A.; Lindner, V.; Liu, H.; Daniel, T. O.; Smith, C. A.; Fanslow, W. C.: A novel TNF receptor family member binds TWEAK and is implicated in angiogenesis. Immunity 15: 837-846, 2001.
[0024986]15574.Hoey, T.; Sun, Y.-L.; Williamson, K.; Xu, X.: Isolation of two new members of the NF-AT gene family and functional characterization of the NF-AT proteins. Immunity 2: 461-472, 1995.
[0024987]15575.Arany, Z.; Newsome, D.; Oldread, E.; Livingston, D. M.; Eckner, R.: A family of transcriptional adaptor proteins targeted by the E1A oncoprotein. Nature 374: 81-84, 1995.
[0024988]15576.Dong, C.; Zhu, S.; Wang, T.; Yoon, W.; Li, Z.; Alvarez, R. J.; ten Dijke, P.; White, B.; Wigley, F. M.; Goldschmidt-Clermont, P. J.: Deficient Smad7 expression: a putative molecular defect in scleroderma. Proc. Nat. Acad. Sci. 99: 3908-3913, 2002.
[0024989]15577.Kavsak, P.; Rasmussen, R. K.; Causing, C. G.; Bonni, S.; Zhu, H.; Thomsen, G. H.; Wrana, J. L.: Smad7 binds to Smurf2 to form an E3 ubiquitin ligase that targets the TGF-beta receptor for degradation. Molec. Cell 6: 1365-1375, 2000.
[0024990]15578.Lallemand, F.; Mazars, A.; Prunier, C.; Bertrand, F.; Kornprost, M.; Gallea, S.; Roman-Roman, S.; Cherqui, G.; Atfi, A.: Smad7 inhibits the survival nuclear factor kappa-B and potentiates apoptosis in epithelial cells. Oncogene 20: 879-884, 2001.
[0024991]15579.Roijer, E.; Moren, A.; ten Dijke, P.; Stenman, G.: Assignment of the Smad7 gene (MADH7) to human chromosome 18q21.1 by fluorescence in situ hybridization. Cytogenet. Cell Genet. 81: 189-190, 1998.
[0024992]15580.Cravatt, B. F.; Giang, D. K.; Mayfield, S. P.; Boger, D. L.; Lerner, R. A.; Gilula, N. B.: Molecular characterization of an enzyme that degrades neuromodulatory fatty-acid amides. Nature 384: 83-87, 1996.
[0024993]15581.Giang, D. K.; Cravatt, B. F.: Molecular characterization of human and mouse fatty acid amide hydrolases. Proc. Nat. Acad. Sci. 94: 2238-2242, 1997.
[0024994]15582.Sipe, J. C.; Chiang, K.; Gerber, A. L.; Beutler, E.; Cravatt, B. F.: A missense mutation in human fatty acid amide hydrolase associated with problem drug use. Proc. Nat. Acad. Sci. 99: 8394-8399, 2002.
[0024995]15583.Wan, M.; Cravatt, B. F.; Ring, H. Z.; Zhang, X.; Francke, U.: Conserved chromosomal location and genomic structure of human and mouse fatty-acid amide hydrolase genes and evaluation of clasper as a candidate neurological mutation. Genomics 54: 408-414, 1998.
[0024996]15584.Baier, M.; Bannert, N.; Werner, A.; Lang, K.; Kurth, R.: Molecular cloning, sequence, expression, and processing of the interleukin 16 precursor. Proc. Nat. Acad. Sci. 94: 5273-5277, 1997.
[0024997]15585.Roh, M. H.; Makarova, O.; Liu, C.-J.; Shin, K.; Lee, S.; Laurinec, S.; Goyal, M.; Wiggins, R.; Margolis, B.: The Maguk protein, Pals1, functions as an adapter, linking mammalian homologues of Crumbs and Discs Lost. J. Cell Biol. 157: 161-172, 2002.
[0024998]15586.Bannert, N.; Baier, M.; Werner, A.; Kurth, R.: Interleukin-16 or not? Nature 381: 30 only, 1996.
[0024999]15587.Bannert, N.; Kurth, R.; Baier, M.: The gene encoding mouse interleukin-16 consists of seven exons and maps to Chromosome 7 D2-D3. Immunogenetics 49: 704-706, 1999.
[0025000]15588.Cruikshank, W.; Center, D. M.: Modulation of lymphocyte migration by human lymphokines. II. Purification of a lymphotactic factor (LCF). J. Immun. 128: 2569-2574, 1982.
[0025001]15589.Cruikshank, W. W.; Center, D. M.; Nisar, N.; Wu, M.; Natke, B.; Theodore, A. C.; Kornfeld, H.: Molecular and functional analysis of a lymphocyte chemoattractant factor: association of biologic function with CD4 expression. Proc. Nat. Acad. Sci. 91: 5109-5113, 1994.
[0025002]15590.Drwinga, H. L.; Toji, L. H.; Kim, C. H.; Greene, A. E.; Mulivor, R. A.: NIGMS human/rodent somatic cell hybrid mapping panels 1 and 2. Genomics 16: 311-314, 1993.
[0025003]15591.Hudson, T. J.; Stein, L. D.; Gerety, S. S.; Ma, J.; Castle, A. B.; Silva, J.; Slonim, D. K.; Baptista, R.; Kruglyak, L.; Xu, S. H.; Hu, X.; Colbert, A. M. E.; and 39 others: An STS-based map of the human genome. Science 270: 1945-1954, 1995.
[0025004]15592.Keane, J.; Nicoll, J.; Kim, S.; Wu, D. M. H.; Cruikshank, W. W.; Brazer, W.; Natke, B.; Zhang, Y.; Center, D. M.; Kornfeld, H.: Conservation of structure and function between human and murine IL-16. J. Immun. 160: 5945-5954, 1998.
[0025005]15593.Tarnasky, H.; Gill, D.; Murthy, S.; Shao, X.; Demetrick, D. J.; van der Hoorn, F. A.: A novel testis-specific gene, SPAG4, whose product interacts specifically with outer dense fiber protein ODF27, maps to human chromosome 20q11.2. Cytogenet. Cell Genet. 81: 65-67, 1998.
[0025006]15594.Hurlin, P. J.; Queva, C.; Eisenman, R. N.: Mnt, a novel Max-interacting protein is coexpressed with Myc in proliferating cells and mediates repression at Myc binding sites. Genes Dev. 11: 44-58, 1997.
[0025007]15595.Lo Nigro, C.; Venesio, T.; Reymond, A.; Meroni, G.; Alberici, P.; Cainarca, S.; Enrico, F.; Stack, M.; Ledbetter, D. H.; Liscia, D. S.; Ballabio, A.; Carrozzo, R.: The human ROX gene: genomic structure and mutation analysis in human breast tumors. Genomics 49: 275-282, 1998.
[0025008]15596.Meroni, G.; Reymond, A.; Alcalay, M.; Borsani, G.; Tanigami, A.; Tonlorenzi, R.; Lo Nigro, C.; Messali, S.; Zollo, M.; Ledbetter, D. H.; Brent, R.; Ballabio, A.; Carrozzo, R.: Rox, a novel bHLHZip protein expressed in quiescent cells that heterodimerizes with Max, binds a non-canonical E box and acts as a transcriptional repressor. EMBO J. 16: 2892-2906, 1997.
[0025009]15597.Lennon-Dumenil, A.-M.; Barbouche, M.-R.; Vedrenne, J.; Prod'Homme, T.; Bejaoui, M.; Ghariani, S.; Charron, D.; Fellous, M.; Dellagi, K.; Alcaide-Loridan, C.: Uncoordinated HLA-D gene expression in a RFXANK-defective patient with MHC class II deficiency. J. Immun. 166: 5681-5687, 2001.
[0025010]15598.Lisowska-Grospierre, B.; Fondaneche, M. C.; Rols, M. P.; Griscelli, C.; Fischer, A.: Two complementation groups account for most cases of inherited MHC class II deficiency. Hum. Molec. Genet. 3: 953-958, 1994.
[0025011]15599.Gerloff, T.; Stieger, B.; Hagenbuch, B.; Madon, J.; Landmann, L.; Roth, J.; Hofmann, A. F.; Meier, P. J.: The sister of P-glycoprotein represents the canalicular bile salt export pump of mammalian liver. J. Biol. Chem. 273: 10046-10050, 1998.
[0025012]15600.Wang, R.; Salem, M.; Yousef, I. M.; Tuchweber, B.; Lam, P.; Childs, S. J.; Helgason, C. D.; Ackerley, C.; Phillips, M. J.; Ling, V.: Targeted inactivation of sister of P-glycoprotein gene (spgp) in mice results in nonprogressive but persistent intrahepatic cholestasis. Proc. Nat. Acad. Sci. 98: 2011-2016, 2001.
[0025013]15601.Wiszniewski, W.; Fondaneche, M.-C.; Lambert, N.; Masternak, K.; Picard, C.; Notarangelo, L.; Schwartz, K.; Bal, J.; Reith, W.; Alcaide, C.; de Saint Basile, G.; Fischer, A.; Lisowska-Grospierre, B.: Founder effect for a 26-bp deletion in the RFXANK gene in North African major histocompatibility complex class II-deficient patients belonging to complementation group B. Immunogenetics 51: 261-267, 2000.
[0025014]15602.Stec, I.; Wright, T. J.; van Ommen, G.-J. B.; de Boer, P. A. J.; van Haeringen, A.; Moorman, A. F. M.; Altherr, M. R.; den Dunnen, J. T.: WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma. Hum. Molec. Genet. 7: 1071-1082, 1998.
[0025015]15603.Buanne, P.; Incerti, B.; Guardavaccaro, D.; Avvantaggiato, V.; Simeone, A.; Tirone, F.: Cloning of the human interferon-related developmental regulator (IFRD1) gene coding for the PC4 protein, a member of a novel family of developmentally regulated genes. Genomics 51: 233-242, 1998.
[0025016]15604.Chen, D.; Lathrop, W.; Dong, Y.: Molecular cloning of mouse Lrp7(Lr3) cDNA and chromosomal mapping of orthologous genes in mouse and human. Genomics 55: 314-321, 1999.
[0025017]15605.Dong, Y.; Lathrop, W.; Weaver, D.; Qiu, Q.; Cini, J.; Bertolini, D.; Chen, D.: Molecular cloning and characterization of LR3, a novel LDL receptor family protein with mitogenic activity. Biochem. Biophys. Res. Commun. 251: 784-790, 1998.
[0025018]15606.Mao, J.; Wang, J.; Liu, B.; Pan, W.; Farr, G. H., III; Flynn, C.; Yuan, H.; Takada, S.; Kimelman, D.; Li, L.; Wu, D.: Low-density lipoprotein receptor-related protein-5 binds to axin and regulates the canonical Wnt signaling pathway. Molec. Cell 7: 801-809, 2001.
[0025019]15607.Mao, B.; Wu, W.; Li, Y.; Hoppe, D.; Stannek, P.; Glinka, A.; Niehrs, C.: LDLreceptor-related protein 6 is a receptor for Dickkopf proteins. Nature 411: 321-325, 2001.
[0025020]15608.Vinkemeier, U.; Obermann, W.; Weber, K.; Furst, D. O.: The globular head domain of titin extends into the center of the sarcomeric M band: cDNA cloning, epitope mapping and immunoelectron microscopy of two titin-associated proteins. J. Cell Sci. 106: 319-330, 1993.
[0025021]15609.van der Ven, P. F. M.; Speel, E. J. M.; Albrechts, J. C. M.; Ramaekers, F. C. S.; Hopman, A. H. N.; Furst, D. O.: Assignment of the human gene for endosarcomeric cytoskeletal Mprotein (MYOM2) to 8p23.3. Genomics 55: 253-255, 1999.
[0025022]15610.Murakami, M.; Mori, M.: Identification of immunogenic regions in human thyrotropin receptor for immunoglobulin G of patients with Graves' disease. Biochem. Biophys. Res. Commun. 171: 512-518, 1990.
[0025023]15611.Nagayama, Y.; Kaufman, K. D.; Seto, P.; Rapoport, B.: Molecular cloning, sequence and functional expression of the cDNA for the human thyrotropin receptor. Biochem. Biophys. Res. Commun. 165: 1184-1190, 1989.
[0025024]15612.Hirohata, S.; Seldin, M. F.; Apte, S. S.: Chromosomal assignment of two ADAM genes, TACE (ADAM17) and MLTNB (ADAM19), to human chromosomes 2 and 5, respectively, and of Mltnb to mouse chromosome 11. Genomics 54: 178-179, 1998.
[0025025]15613.Inoue, D.; Reid, M.; Lum, L.; Kratzschmar, J.; Weskamp, G.; Myung, Y. M.; Baron, R.; Blobel, C. P.: Cloning and initial characterization of mouse meltrin beta and analysis of the expression of four metalloprotease-disintegrins in bone cells. J. Biol. Chem. 273: 4180-4187, 1998.
[0025026]15614.Petruzzella, V.; Tiranti, V.; Fernandez, P.; Ianna, P.; Carrozzo, R.; Zeviani, M.: Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain. Genomics 54: 494-504, 1998.
[0025027]15615.Sakuma, H.; Ikeda, A.; Oka, S.; Kozutsumi, Y.; Zanetta, J.-P.; Kawasaki, T.: Molecular cloning and functional expression of a cDNA encoding a new member of mixed lineage protein kinase from human brain. J. Biol. Chem. 272: 28622-28629, 1997.
[0025028]15616.Iyer, N. V.; Leung, S. W.; Semenza, G. L.: The human hypoxia-inducible factor 1-alpha gene: HIF1A structure and evolutionary conservation. Genomics 52: 159-165, 1998.
[0025029]15617.Kline, D. D.; Peng, Y.-J.; Manalo, D. J.; Semenza, G. L.; Prabhakar, N. R.: Defective carotid body function and impaired ventilatory responses to chronic hypoxia in mice partially deficient for hypoxia-inducible factor 1-alpha. Proc. Nat. Acad. Sci. 99: 821-826, 2002.
[0025030]15618.Lando, D.; Peet, D. J.; Whelan, D. A.; Gorman, J. J.; Whitelaw, M. L.: Asparagine hydroxylation of the HIF transactivation domain: a hypoxic switch. Science 295: 858-861, 2002.
[0025031]15619.Marti, H. H.; Katschinski, D. M.; Wagner, K. F.; Schaffer, L.; Stier, B.; Wenger, R. H.: Isoform-specific expression of hypoxia-inducible factor-1-alpha during the late stages of mouse spermiogenesis. Molec. Endocr. 16: 234-243, 2002.
[0025032]15620.Maxwell, P. H.; Wiesener, M. S.; Chang, G.-W.; Clifford, S. C.; Vaux, E. C.; Cockman, M. E.; Wykoff, C. C.; Pugh, C. W.; Maher, E. R.; Ratcliffe, P. J.: The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis. Nature 399: 271-275, 1999.
[0025033]15621.Min, J.-H.; Yang, H.; Ivan, M.; Gertler, F.; Kaelin, W. G., Jr.; Pavletich, N. P.: Structure of an HIF-1-alpha-pVHL complex: hydroxyproline recognition in signaling. Science 296: 1886-1889, 2002.
[0025034]15622.Semenza, G. L.: HIF-1 and human disease: one highly involved factor. Genes Dev. 14: 1983-1991, 2000.
[0025035]15623.Semenza, G. L.; Rue, E. A.; Iyer, N. V.; Pang, M. G.; Kearns, W. G.: Assignment of the hypoxia-inducible factor 1-alpha gene to a region of conserved synteny on mouse chromosome 12 and human chromosome 14q. Genomics 34: 437-439, 1996.
[0025036]15624.Sutter, C. H.; Laughner, E.; Semenza, G. L.: Hypoxia-inducible factor 1-alpha protein expression is controlled by oxygen-regulated ubiquitination that is disrupted by deletions and missense mutations. Proc. Nat. Acad. Sci. 97: 4748-4753, 2000.
[0025037]15625.Wenger, R. H.; Rolfs, A.; Kvietikova, I.; Spielmann, P.; Zimmermann, D. R.; Gassmann, M.: The mouse gene for hypoxia-inducible factor-1-alpha--genomic organization, expression and characterization of an alternative first exon and 5-prime flanking sequence. Europ. J. Biochem. 246: 155-165, 1997.
[0025038]15626.Wenger, R. H.; Rolfs, A.; Marti, H. H.; Guenet, J.-L.; Gassmann, M.: Nucleotide sequence, chromosomal assignment and mRNA expression of mouse hypoxia-inducible factor-1-alpha. Biochem. Biophys. Res. Commun. 223: 54-59, 1996.
[0025039]15627.Wenger, R. H.; Rolfs, A.; Spielmann, P.; Zimmermann, D. R.; Gassmann, M.: Mouse hypoxia-inducible factor-1-alpha is encoded by two different mRNA isoforms: expression from a tissuespecific and a housekeeping-type promoter. Blood 91: 3471-3480, 1998.
[0025040]15628.Hovanessian, A. G.; Laurent, A. G.; Chebath, J.; Galabru, J.; Robert, N.; Svab, J.: Identification of 69-kd and 100-kd forms of 2-5A synthetase in interferon-treated human cells by specific monoclonal antibodies. EMBO J. 6: 1273-1280, 1987.
[0025041]15629.Marie, I.; Galabru, J.; Svab, J.; Hovanessian, A. G.: Preparation and characterization of polyclonal antibodies specific for the 69 and 100 k-dalton forms of human 2-5A synthetase. Biochem. Biophys. Res. Commun. 160: 580-587, 1989.
[0025042]15630.Marie, I.; Hovanessian, A. G.: The 69-kDa 2-5A synthetase is composed of two homologous and adjacent functional domains. J. Biol. Chem. 267: 9933-9939, 1992.
[0025043]15631.Kools, P.; Van Imschoot, G.; van Roy, F.: Characterization of three novel human cadherin genes (CDH7, CDH19, and CDH20) clustered on chromosome 18q22-q23 and with high homology to chicken cadherin-7. Genomics 68: 283-295, 2000.
[0025044]15632.Amado, M.; Almeida, R.; Carneiro, F.; Levery, S. B.; Holmes, E. H.; Nomoto, M.; Hollingsworth, M. A.; Hassan, H.; Schwientek, T.; Nielsen, P. A.; Bennett, E. P.; Clausen, H.: A family of human beta-3-galactosyltransferases: characterization of four members of a UDP-galactose:beta-Nacetyl-glucosamine/beta-N-acetyl-galactosamine beta-1,3-galactosyltransferase family. J. Biol. Chem. 273: 12770-12778, 1998.
[0025045]15633.Hennet, T.; Dinter, A.; Kuhnert, P.; Mattu, T. S.; Rudd, P. M.; Berger, E. G.: Genomic cloning and expression of three murine UPD-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase genes. J. Biol. Chem. 273: 58-65, 1998.
[0025046]15634.Kolbinger, F.; Streiff, M. B.; Katopodis, A. G.: Cloning of a human UDP-galactose:2-acetamido-2-deoxy-D-glucose 3-beta-galactosyltransferase catalyzing the formation of type 1 chains. J. Biol. Chem. 273: 433-440, 1998.
[0025047]15635.Hsu, D. R.; Economides, A. N.; Wang, X,; Eimon, P. M.; Harland, R. M.: The Xenopus dorsalizing factor gremlin identifies a novel family of secreted proteins that antagonize BMP activities. Molec. Cell 1: 673-683, 1998.
[0025048]15636.Topol, L. Z.; Modi, W. S.; Koochekpour, S.; Blair, D. G.: DRM-Gremlin (CKTSF1B1) maps to human chromosome 15 and is highly expressed in adult and fetal brain. Cytogenet. Cell Genet. 89: 79-84, 2000.
[0025049]15637.Beaconsfield, P.; Rainsbury, R.; Kalton, G.: Glucose-6-phosphate dehydrogenase deficiency and the incidence of cancer. Oncologia 19: 11-19, 1965.
[0025050]15638.Ben-Bassat, J.; Ben-Ishay, D.: Hereditary hemolytic anemia associated with glucose-6-phosphate dehydrogenase deficiency (Mediterranean type). Israel J. Med. Sci. 5: 1053-1059, 1969.
[0025051]15639.Benabadji, M.; Merad, F.; Benmoussa, M.; Trabuchet, G.; Junien, C.; Dreyfus, J. C.; Kaplan, J. C.: Heterogeneity of glucose-6-phosphate dehydrogenase deficiency in Algeria. Hum. Genet. 40: 177-184, 1978.
[0025052]15640.Benohr, H. C.; Klumpp, F.; Waller, H. D.: Glucose-6-phosphat-Dehydrogenase Typ Schwaben. Dtsch. Med. Wschr. 96: 1029-1032, 1971.
[0025053]15641.Benohr, H. C.; Waller, H. D.: Eigenschaften der Glucose-6-p-dehydrogenase, Typ Tubingen. Klin. Wschr. 48: 71-74, 1970.
[0025054]15642.Benohr, H. C.; Waller, H. D.; Arnold, H.; Blume, K. G.; Lohr, G. W.: Glucose-6-PDehydrogenase Typ Bodensee (eine neue Enzymvariante). Klin. Wschr. 49: 1058-1062, 1971.
[0025055]15643.Beutler, E.: Glucose 6-phosphate dehydrogenase deficiency, a new Indian variant, G6PD Jammu.In: Sen, N. N.; Basu, A. K.: Trends in Haematology. Calcutta: Chatterjea Memorial Committee (pub.) 1975. Pp. 279-283.
[0025056]15644.Beutler, E.: Personal Communication. La Jolla, Calif. 11/12/1990.
[0025057]15645.Beutler, E.: G6PD deficiency. Blood 84: 3613-3636, 1994.
[0025058]15646.Beutler, E.: Glucose-6-phosphate dehydrogenase deficiency. New Eng. J. Med. 324: 169-174, 1991.
[0025059]15647.Beutler, E.: Selectivity of proteases as a basis for tissue distribution of enzymes in hereditary deficiencies. Proc. Nat. Acad. Sci. 80: 3767-3768, 1983.
[0025060]15648.Beutler, E.: Glucose-6-phosphate dehydrogenase deficiency.In: Wintrobe, M. M.: Red Cell Metabolism in Hemolytic Anemia. New York: Plenum Press (pub.) 1978.
[0025061]15649.Beutler, E.: The hemolytic effect of primaquine and related compounds: a review. Blood 14: 103-139, 1959.
[0025062]15650.Beutler, E.; Grooms, A. M.; Morgan, S. K.; Trinidad, F.: Chronic severe hemolytic anemia due to G-6-PD Charleston: a new deficiency variant. J. Pediat. 80: 1005-1009, 1972.
[0025063]15651.Beutler, E.; Hartman, K.; Gelbart, T.; Forman, L.: G-6-PD Walter Reed: possible insight into 'structural' NADP in G-6-PD. Am. J. Hemat. 23: 25-30, 1986.
[0025064]15652.Beutler, E.; Keller, J. W.; Matsumoto, F.: A new glucose 6-phosphate dehydrogenase (G6PD) variant associated with nonspherocytic hemolytic anemia: G6PD Atlanta. I.R.C.S. 4: 479, 1976.
[0025065]15653.Beutler, E.; Kuhl, W.: The NT 1311 polymorphism of G6PD: G6PD Mediterranean mutation may have originated independently in Europe and Asia. Am. J. Hum. Genet. 47: 1008-1012, 1990.
[0025066]15654.Beutler, E.; Kuhl, W.: Linkage between a PvuII restriction fragment length polymorphism and G6PD A- (202A/376G): evidence for a single origin of the common G6PD Amutation. Hum. Genet. 85: 9-11, 1990.
[0025067]15655.Beutler, E.; Kuhl, W.; Gelbart, T.; Forman, L.: DNA sequence abnormalities of human glucose-6-phosphate dehydrogenase variants. J. Biol. Chem. 266: 4145-4150, 1991.
[0025068]15656.Beutler, E.; Kuhl, W.; Ramirez, E.; Lisker, R.: Some Mexican glucose-6-phosphate dehydrogenase variants revisited. Hum. Genet. 86: 371-374, 1991.
[0025069]15657.Beutler, E.; Kuhl, W.; Saenz, G. F.; Rodriguez, W.: Mutation analysis of glucose-6-phosphate dehydrogenase (G6PD) variants in Costa Rica. Hum. Genet. 87: 462-464, 1991.
[0025070]15658.Beutler, E.; Mathai, C. K.; Smith, J. E.: Biochemical variants of glucose-6-phosphate dehydrogenase giving rise to congenital nonspherocytic hemolytic disease. Blood 31: 131-150, 1968.
[0025071]15659.Beutler, E.; Matsumoto, F.: A new glucose 6-phosphate dehydrogenase variant: G6PD (-) Los Angeles. I.R.C.S. 5: 89, 1977.
[0025072]15660.Beutler, E.; Matsumoto, F.; Daiber, A.: Nonspherocytic hemolytic anemia due to G-6-PD Panama. I.R.C.S. 2: 1389, 1974.
[0025073]15661.Beutler, E.; Rosen, R.: Nonspherocytic congenital hemolytic anemia due to a new G-6-PD variant: G-6-PD Alhambra. Pediatrics 45: 230-235, 1970.
[0025074]15662.Beutler, E.; Westwood, B.; Prchal, J. T.; Vaca, G.; Bartsocas, C. S.; Baronciani, L.: New glucose-6-phosphate dehydrogenase mutations from various ethnic groups. Blood 80: 255-256, 1992.
[0025075]15663.Beutler, E.; Yoshida, A.: Human glucose-6-phosphate dehydrogenase variants: a supplementary tabulation. Ann. Hum. Genet. 37: 151-156, 1973.
[0025076]15664.Boivin, P.; Galand, C.: Nouvelles variantes de la glucose-6-phosphate dehydrogenase erythrocytaire. Rev. Franc. Etud. Clin. Biol. 13: 30-39, 1968.
[0025077]15665.Botha, M. C.; Dern, R. J.; Mitchell, M.; West, C.; Beutler, E. : G6PD Capetown, a variant of glucose-6-phosphate dehydrogenase. Am. J. Hum. Genet. 21: 547-551, 1969.
[0025078]15666.Boyer, S. H.; Graham, J. B.: Linkage between the X chromosome loci for glucose-6-phosphate dehydrogenase electrophoretic variation and hemophilia A. Am. J. Hum. Genet. 17: 320-324, 1965.
[0025079]15667.Boyer, S. H.; Porter, I. H.; Weilbaecher, R. G.: Electrophoretic heterogeneity of glucose-6-phosphate dehydrogenase and its relationship to enzyme deficiency in man. Proc. Nat. Acad. Sci. 48: 1868-1876, 1962.
[0025080]15668.Busch, D.; Bote, K.: Glucose-6-phosphate-dehydrogenase-Defect in Deutschland. II. Bigenschabten des Enzyms (Typ Freiburg). Klin. Wschr. 48: 74-78, 1970.
[0025081]15669.Calabro, V.; Giacobbe, A.; Vallone, D.; Montanaro, V.; Cascone, A.; Filosa, S.; Battistuzzi, G.: Genetic heterogeneity at the glucose-6-phosphate dehydrogenase locus in southern Italy: a study on a population from the Matera district. Hum. Genet. 86: 49-53, 1990.
[0025082]15670.Cappadoro, M.; Giribaldi, G.; O'Brien, E.; Turrini, F.; Mannu, F.; Ulliers, D.; Simula, G.; Luzzatto, L.; Arese, P.: Early phagocytosis of glucose-6-phosphate dehydrogenase (G6PD)-deficient erythrocytes parasitized by Plasmodium falciparum may explain malaria protection in G6PD deficiency. Blood 92: 2527-2534, 1998.
[0025083]15671.Cappellini, M. D.; Sampietro, M.; Toniolo, D.; Carandina, G.; Pittalis, S.; Martinez di Montemuros, F.; Tavazzi, D.; Fiorelli, G. : Biochemical and molecular characterization of a new sporadic glucose-6-phosphate dehydrogenase variant described in Italy: G6PD Modena. Brit. J. Haemat. 87: 209-211, 1994.
[0025084]15672.Carandina, G.; Moretto, E.; Zecchi, G.; Conighi, C.: Glucose 6-phosphate dehydrogenase Ferrara. A new variant of G6PD identified in Northern Italy. Acta Haemat. 56: 116-122, 1976.
[0025085]15673.Carson, P. E.; Flanagan, C. L.; Ickes, C. E.; Alving, A. S.: Enzymatic deficiency in primaquine-sensitive erythrocytes. Science 124: 484-485, 1956.
[0025086]15674.Poy, F.; Yaffe, M. B.; Sayos, J.; Saxena, K.; Morra, M.; Sumegi, J.; Cantley, L. C.; Terhorst, C.; Eck, M. J.: Crystal structures of the XLP protein SAP reveal a class of SH2 domains with extended, phosphotyrosine-independent sequence recognition. Molec. Cell 4: 555-561, 1999.
[0025087]15675.Provisor, A. J.; Iacuone, J. J.; Chilcote, R. R.; Neiburger, R. G.; Crussi, F. G.; Baehner, R. L.: Acquired agammaglobulinemia after a life-threatening illness with clinical and laboratory features of infectious mononucleosis in three related male children. New Eng. J. Med. 293: 62-65, 1975.
[0025088]15676.Purtilo, D. T.: Pathogenesis and phenotypes of an X-linked recessive lymphoproliferative syndrome. Lancet II: 882-885, 1976.
[0025089]15677.Purtilo, D. T.: X-linked lymphoproliferative syndrome: an immunodeficiency disorder with acquired agammaglobulinemia, fatal infectious mononucleosis, or malignant lymphoma. Arch. Path. Lab. Med. 105: 119-121, 1981.
[0025090]15678.Purtilo, D. T.; Bhawan, J.; Hutt, L. M.; De Nicola, L.; Szymanski, I.; Yang, J. P. S.; Boto, W.; Naier, R.; Thorley-Lawson, D.: Epstein-Barr virus in the X-linked recessive lymphoproliferative syndrome. Lancet I: 798-801, 1978.
[0025091]15679.Purtilo, D. T.; Cassel, C. K.; Yang, J. P. S.: Fatal infectious mononucleosis in familial lymphohistiocytosis. (Letter) New Eng. J. Med. 201: 736 only, 1974.
[0025092]15680.Purtilo, D. T.; Cassel, C. K.; Yang, J. P. S.; Harper, R.; Stephenson, S. R.; Landing, B. H.; Vewter, G. F.: X-linked recessive progressive combined variable immunodeficiency (Duncan's disease). Lancet I: 935-941, 1975.
[0025093]15681.Purtilo, D. T.; DeFlorio, D., Jr.; Hutt, L. M.; Bhawan, J.; Yang, J. P. S.; Otto, R. L.; Edwards, W.: Variable phenotypic expression of an X-linked recessive lymphoproliferative syndrome. New Eng. J. Med. 297: 1077-1081, 1977.
[0025094]15682.Purtilo, D. T.; Grierson, H. L.: Methods of detection of new families with X-linked lymphoproliferative disease. Cancer Genet. Cytogenet. 51: 143-153, 1991.
[0025095]15683.Purtilo, D. T.; Sakamoto, K.; Barnabei, V.; Seeley, J.; Bechtold, T.; Rogers, G.; Yetz, J.; Harada, S.; the XLP collaborators: Epstein-Barr virus-induced diseases in boys with the X-linked lymphoproliferative syndrome (XLP): update on studies of the registry. Am. J. Med. 73: 49-56, 1982.
[0025096]15684.Purtilo, D. T.; Yang, J. P. S.; Allegra, S.; DeFlorio, D.; Hutt, L. M.; Soltani, M.; Vawter, G. F.: Hematopathology and pathogenesis of the X-linked recessive lymphoproliferative syndrome. Am. J. Med. 62: 225-233, 1977.
[0025097]15685.Sanger, W. G.; Grierson, H. L.; Skare, J.; Wyandt, H.; Pirruccello, S.; Fordyce, R.; Purtilo, D. T.: Partial Xq25 deletion in a family with the X-linked lymphoproliferative disease (XLP). Cancer Genet. Cytogenet. 47: 163-169, 1990.
[0025098]15686.Sayos, J.; Wu, C.; Morra, M.; Wang, N.; Zhang, X.; Allen, D.; van Schaik, S.; Notarangelo, L.; Gehat, R.; Roncarolo, M. G.; Oettgen, H.; De Vries, J. E.; Aversall, G.; Terhorst, C.: The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM. Nature 395: 462-469, 1998.
[0025099]15687.Scher, I.: The CBA/N mouse strain: an experimental model illustrating the influence of the X-chromosome on immunity. Adv. Immun. 33: 1-71, 1982.
[0025100]15688.Schuster, V.; Kreth, H. W.: X-linked lymphoproliferative disease.In: Ochs, H. D.; Smith, C. I. E.; Puck, J. M. (eds.): Primary Immunodeficiency Diseases: A Molecular and Genetic Approach. New York: Oxford University Press 1999. Pp. 222-232.
[0025101]15689.Seemayer, T. A.; Gross, T. G.; Egeler, R. M.; Pirruccello, S. J.; Davis, D. J.; Kelly, C. M.; Okano, M.; Lanyi, A.; Sumegi, J.: X-linked lymphoproliferative disease: twenty-five years after the discovery. Pediat. Res. 38: 471-478, 1995.
[0025102]15690.Skare, J.; Grierson, H.; Wyandt, H.; Sanger, W.; Milunsky, J.; Purtilo, D.; Sullivan, J.; Milunsky, A.: Genetics of the X-linked lymphoproliferative syndrome. (Abstract) Am. J. Hum. Genet. 45 (suppl.): A161 only, 1989.
[0025103]15691.Skare, J.; Madan, S.; Glaser, J.; Purtilo, D.; Nitowsky, H.; Pulijaal, V.; Milunsky, A.: First prenatal diagnosis of X-linked lymphoproliferative disease. Am. J. Med. Genet. 44: 79-81, 1992.
[0025104]15692.Skare, J.; Milunsky, A.; Byron, K.; Sullivan, J.: The mutation causing X-linked lymphoproliferative syndrome lies in Xq26. (Abstract) Am. J. Hum. Genet. 41: A185 only, 1987.
[0025105]15693.Skare, J.; Wu, B.-L.; Madan, S.; Pulijaal, V.; Purtilo, D.; Haber, D.; Nelson, D.; Sylla, B.; Grierson, H.; Nitowsky, H.; Glaser, J.; Wissink, J.; White, B.; Holden, J.; Housman, D.; Lenoir, G.; Wyandt, H.; Milunsky, A.: Characterization of three overlapping deletions causing X-linked lymphoproliferative disease. Genomics 16: 254-255, 1993.
[0025106]15694.Skare, J. C.; Grierson, H. L.; Sullivan, J. L.; Nussbaum, R. L.; Purtilo, D. T.; Sylla, B. S.; Lenoir, G. M.; Reilly, D. S.; White, B. N.; Milunsky, A.: Linkage analysis of seven kindreds with the X-linked lymphoproliferative syndrome (XLP) confirms that the XLP locus is near DXS42 and DXS37. Hum. Genet. 82: 354-358, 1989.
[0025107]15695.Skare, J. C.; Milunsky, A.; Byron, K. S.; Sullivan, J. L.: Mapping the X-linked lymphoproliferative syndrome. Proc. Nat. Acad. Sci. 84: 2015-2018, 1987.
[0025108]15696.Skare, J. C.; Sullivan, J. L.; Milunsky, A.: Mapping the mutation causing the X-linked lymphoproliferative syndrome in relation to restriction fragment length polymorphisms on Xq. Hum. Genet. 82: 349-353, 1989.
[0025109]15697.Steinherz, R.; Levy, Y.; Litwin, A.; Nitzan, M.; Friedman, E.; Levin, S.: X-linked lymphoproliferative syndrome: a new kindred with variable phenotypic expression. Am. J. Dis. Child. 139: 191-193, 1985.
[0025110]15698.Nehlin, J. O.; Hara, E.; Kuo, W.-L.; Collins, C.; Campisi, J.: Genomic organization, sequence, and chromosomal localization of the human helix-loop-helix Id1 gene. Biochem. Biophys. Res. Commun. 231: 628-634, 1997.
[0025111]15699.Inoue, S.; Orimo, A.; Matsuda, Y.; Inazawa, J.; Emi, M.; Nakamura, Y.; Hori, T.; Muramatsu, M.: Chromosome mapping of human (ZNF147) and mouse genes for estrogen-responsive finger protein (efp), a member of the RING finger family. Genomics 25: 581-583, 1995.
[0025112]15700.Law, D. J.; Prasad, M. A.; King, S. E.; Spranger, K. D.; Lee, Y. H.; Fox, R. E.; Collins, E. E.; Gebuhr, T. C.; Miller, D. E.; Petty, E. M.: Localization of the human estrogen-responsive finger protein (EFP) gene (ZNF147) within a YAC contig containing the myeloperoxidase (MPO) gene. Genomics 28: 361-363, 1995.
[0025113]15701.Fujii, H.; Chen, S.-H.; Akatsuka, J.; Miwa, S.; Yoshida, A.: Use of cultured lymphoblastoid cells for the study of abnormal enzymes: molecular abnormality of a phosphoglycerate kinase variant associated with hemolytic anemia. Proc. Nat. Acad. Sci. 78: 2587-2590, 1981.
[0025114]15702.Lindenbaum, R. H.; Clarke, G.; Patel, C.; Moncrieff, M.; Hughes, J. T.: Muscular dystrophy in an X;1 translocation female suggests that Duchenne locus is on X chromosome short arm. J. Med. Genet. 16: 389-392, 1979.
[0025115]15703.Loftin, C. D.; Trivedi, D. B.; Tiano, H. F.; Clark, J. A.; Lee, C. A.; Epstein, J. A.; Morham, S. G.; Breyer, M. D.; Nguyen, M.; Hawkins, B. M.; Goulet, J. L.; Smithies, O.; Koller, B. H.; Langenbach, R. : Failure of ductus arteriosus closure and remodeling in neonatal mice deficient in cyclooxygenase-1 and cyclooxgenase-2. Proc. Nat. Acad. Sci. 98: 1059-1064, 2001.
[0025116]15704.Macchia, L.; Di Paola, R.; Guerrese, M.-C.; Chiechi, L. M.; Tursi, A.; Caiaffa, M. F.; Haeggstrom, J. Z.: Expression of prostaglandin endoperoxide H synthase 1 and 2 in human placenta at term. Biochem. Biophys. Res. Commun. 233: 496-501, 1997.
[0025117]15705.Morham, S. G.; Langenbach, R.; Loftin, C. D.; Tiano, H. F.; Vouloumanos, N.; Jennette, J. C.; Mahler, J. F.; Kluckman, K. D.; Ledford, A.; Lee, C. A.; Smithies, O.: Prostaglandin synthase 2 gene disruption causes severe renal pathology in the mouse. Cell 83: 473-482, 1995.
[0025118]15706.Neufang, G.; Furstenberger, G.; Heidt, M.; Marks, F.; Muller-Decker, K.: Abnormal differentiation of epidermis in transgenic mice constitutively expressing cyclooxygenase-2 in skin. Proc. Nat. Acad. Sci. 98: 7629-7634, 2001.
[0025119]15707.O'Banion, M. K.; Sadowski, H. B.; Winn, V.; Young, D. A.: A serum- and glucocorticoid-regulated 4-kilobase mRNA encodes a cyclooxygenase-related protein. J. Biol. Chem. 266: 23261-23267, 1991.
[0025120]15708.O'Banion, M. K.; Winn, V. D.; Young, D. A.: cDNA cloning and functional activity of a glucocorticoid-regulated inflammatory cyclooxygenase. Proc. Nat. Acad. Sci. 89: 4888-4892, 1992.
[0025121]15709.Oshima, M.; Dinchuk, J. E.; Kargman, S. L.; Oshima, H.; Hancock, B.; Kwong, E.; Trzaskos, J. M.; Evans, J. F.; Taketo, M. M.: Suppression of intestinal polyposis in Apc(delta-716) knockout mice by inhibition of cyclooxygenase 2 (COX-2). Cell 87: 803-809, 1996.
[0025122]15710.Salmenkivi, K.; Haglund, C.; Ristimaki, A.; Arola, J.; Heikkila, P.: Increased expression of cyclooxygenase-2 in malignant pheochromocytomas. J. Clin. Endocr. Metab. 86: 5615-5619, 2001.
[0025123]15711.Tay, A.; Squire, J. A.; Goldberg, H.; Skorecki, K.: Assignment of the human prostaglandin-endoperoxide synthase 2 (PTGS2) gene to 1q25 by fluorescence in situ hybridization. Genomics 23: 718-719, 1994.
[0025124]15712.Swan, S. K.; Rudy, D. W.; Lasseter, K. C.; Ryan, C. F.; Buechel, K. L.; Lambrecht, L. J.; Pinto, M. B.; Dilzer, S. C.; Obrda, O.; Sundblad, K. J.; Gumbs, C. P.; Ebel, D. L.; Quan, H.; Larson, P. J.; Schwartz, J. I.; Musliner, T. A.; Gertz, B. J.; Brater, D. C.; Yao, S.-L.: Effect of cyclooxygenase-2 inhibition on renal function in elderly persons receiving a low-salt diet: a randomized controlled trial. Ann. Intern. Med. 133: 1-9, 2000.
[0025125]15713.Tazawa, R.; Xu, X.-M.; Wu, K. K.; Wang, L.-H.: Characterization of the genomic structure, chromosomal location and promoter of human prostaglandin H synthase-2 gene. Biochem. Biophys. Res. Commun. 203: 190-199, 1994.
[0025126]15714.Tsujii, M.; DuBois, R. N.: Alterations in cellular adhesion and apoptosis in epithelial cells overexpressing prostaglandin endoperoxide synthase 2. Cell 83: 493-501, 1995.
[0025127]15715.Zhou, X.-L.; Lei, Z. M.; Rao, C. V.: Treatment of human endometrial gland epithelial cells with chorionic gonadotropin/luteinizing hormone increases the expression of the cyclooxygenase-2 gene. J. Clin. Endocr. Metab. 84: 3364-3377, 1999.
[0025128]15716.Inoue, S.; Orimo, A.; Hosoi, T.; Kondo, S.; Toyoshima, H.; Kondo, T.; Ikegami, A.; Ouchi, Y.; Orimo, H.; Muramatsu, M.: Genomic binding-site cloning reveals an estrogen-responsive gene that encodes a RING finger protein. Proc. Nat. Acad. Sci. 90: 11117-11121, 1993.
[0025129]15717.Maho, A.; Bensimon, A.; Vassart, G.; Parmentier, M.: Mapping of the CCXCR1, CX3CR1, CCBP2 and CCR9 genes to the CCR cluster within the 3p21.3 region of the human genome. Cytogenet. Cell Genet. 87: 265-268, 1999.
[0025130]15718.Anderson, D. M.; Johnson, L.; Glaccum, M. B.; Copeland, N. G.; Gilbert, D. J.; Jenkins, N. A.; Valentine, V.; Kirstein, M. N.; Shapiro, D. N.; Morris, S. W.; Grabstein, K.; Cosman, D.: Chromosomal assignment and genomic structure of IL15. Genomics 25: 701-706, 1995.
[0025131]15719.Grabstein, K. H.; Eisenman, J.; Shanebeck, K.; Rauch, C.; Srinivasan, S.; Fung, V.; Beers, C.; Richardson, J.; Schoenborn, M. A.; Ahdieh, M.; Johnson, L.; Alderson, M. R.; Watson, J. D.; Anderson, D. M.; Giri, J. G.: Cloning of a T cell growth factor that interacts with the beta chain of the interleukin-2 receptor. Science 264: 965-968, 1994.
[0025132]15720.Roberts, A. I.; Lee, L.; Schwarz, E.; Groh, V.; Spies, T.; Ebert, E. C.; Jabri, B.: Cutting edge: NKG2D receptors induced by IL-15 costimulate CD28-negative effector CTL in the tissue microenvironment. J. Immun. 167: 5527-5530, 2001.
[0025133]15721.Robinson, P.; Okhuysen, P. C.; Chappell, C. L.; Lewis, D. E.; Shahab, I.; Lahoti, S.; White, A. C., Jr.: Expression of IL-15 and IL-4 in IFN-gamma-independent control of experimental human Cryptosporidium parvum infection. Cytokine 15: 39-46, 2001.
[0025134]15722.Chen, X.; Vinkemeier, U.; Zhao, Y.; Jeruzalmi, D.; Darnell, J. E., Jr.; Kuriyan, J.: Crystal structure of a tyrosine phosphorylated STAT-1 dimer bound to DNA. Cell 93: 827-839, 1998.
[0025135]15723.Copeland, N. G.; Gilbert, D. J.; Schindler, C.; Zhong, Z.; Wen, Z.; Darnell, J. E., Jr.; Mui, A. L.-F.; Miyajima, A.; Quelle, F. W.; Ihle, J. N.; Jenkins, N. A.: Distribution of the mammalian Stat gene family in mouse chromosomes. Genomics 29: 225-228, 1995.
[0025136]15724.Darnell, J. E., Jr.; Kerr, I. M.; Stark, G. M.: Jak-STAT pathways and transcriptional activation in response to IFNs and other extracellular signaling proteins. Science 264: 1415-1421, 1994.
[0025137]15725.Durbin, J. E.; Hackenmiller, R.; Simon, M. C.; Levy, D. E.: Targeted disruption of the mouse Stat1 gene results in compromised innate immunity to viral disease. Cell 84: 443-450, 1996.
[0025138]15726.Haddad, B.; Pabon-Pena, C. R.; Young, H.; Sun, W. H.: Assignment of STAT1 to human chromosome 2q32 by FISH and radiation hybrids. Cytogenet. Cell Genet. 83: 58-59, 1998.
[0025139]15727.Ihle, J. N.: STATs: signal transducers and activators of transcription. Cell 84: 331-334, 1996.
[0025140]15728.Meraz, M. A.; White, J. M.; Sheehan, K. C. F.; Bach, E. A.; Rodig, S. J.; Dighe, A. S.; Kaplan, D. H.; Riley, J. K.; Greenlund, A. C. Campbell, D.; Carver-Moore, K.; DuBois, R. N.; Clark, R.; Aguet, M.; Schreiber, R. D.: Targeted disruption of the Stat1 gene in mice reveals unexpected physiologic specificity in the JAK-STAT signaling pathway. Cell 84: 431-442, 1996.
[0025141]15729.Mowen, K. A.; Tang, J.; Zhu, W.; Schurter, B. T.; Shuai, K.; Herschman, H. R.; David, M.: Arginine methylation of STAT1 modulates IFN-alpha/beta-induced transcription. Cell 104: 731-741, 2001.
[0025142]15730.Ramana, C. V.; Chatterjee-Kishore, M.; Nguyen, H.; Stark, G. R. : Complex roles of Stat1 in regulating gene expression. Oncogene 19: 2619-2627, 2000.
[0025143]15731.Yamamoto, K.; Kobayashi, H.; Arai, A.; Miura, O.; Hirosawa, S.; Miyasaka, N.: cDNA cloning, expression and chromosome mapping of the human STAT4 gene: both STAT4 and STAT1 genes are mapped to 2q32.2-q32.3. Cytogenet. Cell Genet. 77: 207-210, 1997.
[0025144]15732.Fukuda, M.: Biogenesis of the lysosomal membrane. Subcell. Biochem. 22: 199-230, 1994.
[0025145]15733.Fukuda, M.; Viitala, J.; Matteson, J.; Carlsson, S. R.: Cloning of the cDNAs encoding human lysosomal membrane glycoproteins, h-lamp-1 and h-lamp-2: comparison of their deduced amino acid sequences. J. Biol. Chem. 263: 18920-18928, 1988.
[0025146]15734.Konecki, D. S.; Foetisch, K.; Schlotter, M.; Lichter-Konecki, U. : Complete cDNA sequence of human lysosome-associated membrane protein-2. Biochem. Biophys. Res. Commun. 205: 1-5, 1994.
[0025147]15735.Lindsay, S.; Bird, A. P.: Use of restriction enzymes to detect potential gene sequences in mammalian DNA. Nature 327: 336-338, 1987.
[0025148]15736.Manoni, M.; Tribioli, C.; Lazzari, B.; DeBellis, G.; Patrosso, C.; Pergolizzi, R.; Pellegrini, M.; Maestrini, E.; Rivella, S.; Vezzoni, P.; Toniolo, D.: The nucleotide sequence of a CpG island demonstrates the presence of the first exon of the gene encoding the human lysosomal membrane protein LAMP2 and assigns the gene to Xq24. Genomics 9: 551-554, 1991.
[0025149]15737.Takahashi, M.; Yamamoto, A.; Takano, K.; Sudo, A.; Wada, T.; Goto, Y. I.; Nishino, I.; Saitoh, S.: Germline mosaicism of a novel mutation in lysosome-associated membrane protein-2 deficiency (Danon disease). Ann. Neurol. 52: 122-125, 2002.
[0025150]15738.Tanaka, Y.; Guhe, G.; Suter, A.; Eskelinen, E.-L.; Hartmann, D.; Lullmann-Rauch, R.; Janssen, P. M. L.; Blanz, J.; von Figura, K.; Saftig, P.: Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice. Nature 406: 902-906, 2000.
[0025151]15739.Falls, H. F.: The role of the sex chromosome in hereditary ocular pathology. Trans. Am. Ophthal. Soc. 50: 421-467, 1952.
[0025152]15740.Rosse, W. F.: Paroxysmal nocturnal hemoglobinuria: the biochemical defects and the clinical syndrome. Blood Rev. 3: 192-200, 1989.
[0025153]15741.Rotoli, B.; Luzzatto, L.: Paroxysmal nocturnal haemoglobinuria. Clin. Haemat. 2: 113-138, 1989.
[0025154]15742.Sauer, B.; Henderson, N.: Site-specific DNA recombination in mammalian cells by the Cre recombinase of bacteriophage P1. Proc. Nat. Acad. Sci. 85: 5166-5170, 1988.
[0025155]15743.Savoia, A.; Ianzano, L.; Lunardi, C.; De\Sandre, G.; Carotenuto, M.; Musto, P.; Zelante, L.: Identification of three novel mutations in the PIG-A gene in paroxysmal nocturnal haemoglobinuria (PNH) patients. Hum. Genet. 97: 45-48, 1996.
[0025156]15744.Socie, G.; Mary, J.-Y.; de Gramont, A.; Rio, B.; Leporrier, M.; Rose, C.; Heudier, P.; Rochant, H.; Cahn, J.-Y.; Gluckman, E.: Paroxysmal nocturnal haemoglobinuria: long-term follow-up and prognostic factors. Lancet 348: 573-577, 1996.
[0025157]15745.Stevens, V. L.; Raetz, C. R. H.: Defective glycosyl phosphatidylinositol biosynthesis in extracts of three thy-1 negative lymphoma cell mutants. J. Biol. Chem. 266: 10039-10042, 1991.
[0025158]15746.Sugiyama, E.; DeGasperi, R.; Urakaze, M.; Chang, H.-M.; Thomas, L. J.; Hyman, R.; Warren, C. D.; Yeh, E. T. H.: Identification of defects in glycosylphosphatidylinositol anchor biosynthesis in the thy-1 expression mutants. J. Biol. Chem. 266: 12119-12122, 1991.
[0025159]15747.Takahashi, M.; Takeda, J.; Hirose, S.; Hyman, R.; Inoue, N.; Miyata, T.; Ueda, E.; Kitani, T.; Medof, M. E.; Kinoshita, T.: Deficient biosynthesis of N-acetylglucosaminylphosphatidylinositol, the first intermediate of glycosyl phosphatidylinositol anchor biosynthesis, in cell lines established from patients with paroxysmal nocturnal hemoglobinuria. J. Exp. Med. 177: 517-521, 1993.
[0025160]15748.Takeda, J.; Miyata, T.; Kawagoe, K.; Iida, Y.; Endo, Y.; Fujita, T.; Takahashi, M.; Kitani, T.; Kinoshita, T.: Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria. Cell 73: 703-711, 1993.
[0025161]15749.Ueda, E.; Nishimura, J.; Kitani, T.; Nasu, K.; Kageyama, T.; Kim, Y. U.; Takeda, J.; Kinoshita, T.: Deficient surface expression of glycosylphosphatidylinositol-anchored proteins in B cell lines established from patients with paroxysmal nocturnal hemoglobinuria. Int. Immun. 4: 1263-1271, 1992.
[0025162]15750.Ware, R. E.; Howard, T. A.; Kamitani, T.; Chang, H.-M.; Yeh, E. T. H.; Seldin, M. F.: Chromosomal assignment of genes involved in glycosylphosphatidylinositol anchor biosynthesis: implications for the pathogenesis of paroxysmal nocturnal hemoglobinuria. Blood 83: 3753-3757, 1994.
[0025163]15751.Ware, R. E.; Rosse, W. F.; Howard, T. A.: Mutations within the Piga gene in patients with paroxysmal nocturnal hemoglobinuria. Blood 83: 2418-2422, 1994.
[0025164]15752.Watanabe, R.; Inoue, N.; Westfall, B.; Taron, C. H.; Orlean, P.; Takeda, J.; Kinoshita, T.: The first step of glycosylphosphatidylinositol biosynthesis is mediated by a complex of PIG-A, PIGH, PIG-C and GPI1. EMBO J. 17: 877-885, 1998.
[0025165]15753.Watanabe, R.; Kinoshita, T.; Masaki, R.; Yamamoto, A.; Takeda, J.; Inoue, N.: PIG-A and PIG-H, which participate in glycosylphosphatidylinositol anchor biosynthesis, form a protein complex in the endoplasmic reticulum. J. Biol. Chem. 271: 26868-26875, 1996.
[0025166]15754.Yeh, E. T. H.; Rosse, W. F.: Paroxysmal nocturnal hemoglobinuria and the glycosylphosphatidylinositol anchor. J. Clin. Invest. 93: 2305-2310, 1994.
[0025167]15755.Yu, J.; Nagarajan, S.; Ueda, E.; Knez, J. J.; Petersen, R. B.; Medof, M. E.: Characterization of alternatively spliced PIG-A transcripts in normal and paroxysmal nocturnal hemoglobinuria cells. Brazilian J. Med. Biol. Res. 27: 195-201, 1994.
[0025168]15756.Chen, S.-H.; Malcolm, L. A.; Yoshida, A.; Giblett, E. R.: Phosphoglycerate kinase: an X-linked polymorphism in man. Am. J. Hum. Genet. 23: 87-91, 1971.
[0025169]15757.Cooper, D. W.; Johnston, P. G.; Murtagh, C. E.; Sharman, G. B.; Vandeberg, J. L.; Poole, W. E.: Sex-linked isozymes and sex-chromosome evolution and inactivation in kangaroos.In: Markert, C. L.: Isozymes. Developmental Biology. New York: Academic Press (pub.) III: 1975. Pp. 559-573.
[0025170]15758.Cooper, D. W.; Vandeberg, J. L.; Sharman, G. B.; Poole, W. E.: Phosphoglycerate kinase polymorphism in kangaroos provides further evidence for paternal inactivation. Nature N.B. 230: 155-157, 1971.
[0025171]15759.Deys, B. F.; Grzeschik, K.-H.; Grzeschik, A.; Jaffe, E. R.; Siniscalco, M.: Human phosphoglycerate kinase and inactivation of the X chromosome. Science 175: 1002-1003, 1972.
[0025172]15760.DiMauro, S.; Dalakas, M.; Miranda, A. S.: Phosphoglycerate kinase deficiency: another cause of recurrent myoglobinuria. Ann. Neurol. 13: 11-19, 1983.
[0025173]15761.Echard, G.; Gillois, M.: G6PD--alpha-GAL--PGK--HPRT synteny in the rabbit, Oryctolagus cunniculus. (Abstract) Cytogenet. Cell Genet. 25: 148-149, 1979.
[0025174]15762.Patil, S. R.; Bartley, J. A.; Murray, J. C.; Ionasescu, V. V.; Pearson, P. L.: X-linked glycerol kinase, adrenal hypoplasia and myopathy maps at Xp21. (Abstract) Cytogenet. Cell Genet. 40: 720-721, 1985.
[0025175]15763.Kamal, A.; Stokin, G. B.; Yang, Z.; Xia, C.; Goldstein, L. S.: Axonal transport of amyloid precursor protein is mediated by direct binding to the kinesin light chain subunit of kinesin-I. Neuron 28: 449-459, 2000.
[0025176]15764.Ahn, A. H.; Yoshida, M.; Anderson, M. S.; Feener, C. A.; Selig, S.; Hagiwara, Y.; Ozawa, E.; Kunkel, L. M.: Cloning of human basic A1, a distinct 59-kDa dystrophin-associated protein encoded on chromosome 8q23-24. Proc. Nat. Acad. Sci. 91: 4446-4450, 1994.
[0025177]15765.Yang, B.; Ibraghimov-Beskrovnaya, O.; Moomaw, C. R.; Slaughter, C. A.; Campbell, K. P.: Heterogeneity of the 59-kDa dystrophin-associated protein revealed by cDNA cloning and expression. J. Biol. Chem. 269: 6040-6044, 1994.
[0025178]15766.Merendino, J. J., Jr.; Spiegel, A. M.; Crawford, J. D.; O'Carroll, A.-M.; Brownstein, M. J.; Lolait, S. J.: A mutation in the vasopressin V2-receptor gene in a kindred with X-linked nephrogenic diabetes insipidus. New Eng. J. Med. 328: 1538-1541, 1993.
[0025179]15767.Moses, A. M.; Sangani, G.; Miller, J. L.: Proposed cause of marked vasopressin resistance in a female with an X-linked recessive V2 receptor abnormality. J. Clin. Endocr. Metab. 80: 1184-1186, 1995.
[0025180]15768.Nakano, K. K.: Familial nephrogenic diabetes insipidus. Hawaii Med. J. 28: 205-208, 1969.
[0025181]15769.Nomura, Y.; Onigata, K.; Nagashima, T.; Yutani, S.; Mochizuki, H.; Nagashima, K.; Morikawa, A.: Detection of skewed X-inactivation in two female carriers of vasopressin type 2 receptor gene mutation. J. Clin. Endocr. Metab. 82: 3434-3437, 1997.
[0025182]15770.Pan, Y.; Metzenberg, A.; Das, S.; Jing, B.; Gitschier, J.: Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus. Nature Genet. 2: 103-106, 1992.
[0025183]15771.Pasel, K.; Schulz, A.; Timmermann, K.; Linnemann, K.; Hoeltzenbein, M.; Jaaskelainen, J.; Gruters, A.; Filler, G.; Schoneberg, T.: Functional characterization of the molecular defects causing nephrogenic diabetes insipidus in eight families. J. Clin. Endocr. Metab. 85: 1703-1710, 2000.
[0025184]15772.Rosenthal, W.; Seibold, A.; Antaramian, A.; Lonergan, M.; Arthus, M.-F.; Hendy, G. N.; Birnbaumer, M.; Bichet, D. G.: Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus. Nature 359: 233-235, 1992.
[0025185]15773.Sadeghi, H.; Robertson, G. L.; Bichet, D. G.; Innamorati, G.; Birnbaumer, M.: Biochemical basis of partial nephrogenic diabetes insipidus phenotypes. Molec. Endocr. 11: 1806-1813, 1997.
[0025186]15774.Sadeghi, H. M.; Innamorati, G.; Birnbaumer, M.: An X-linked NDI mutation reveals a requirement for cell surface V2R expression. Molec. Endocr. 11: 706-713, 1997.
[0025187]15775.Sawin, C. T.: Endocrine classic. Endocrinologist 8: 143-148, 1998.
[0025188]15776.Schoneberg, T.; Sandig, V.; Wess, J.; Gudermann, T.; Schultz, G.: Reconstitution of mutant V2 vasopressin receptors by adenovirus-mediated gene transfer: molecular basis and clinical implication. J. Clin. Invest. 100: 1547-1556, 1997.
[0025189]15777.Schoneberg, T.; Schulz, A.; Biebermann, H.; Gruters, A.; Grimm, T.; Hubschmann, K.; Filler, G.; Gudermann, T.; Schultz, G.: V2 vasopressin receptor dysfunction in nephrogenic diabetes insipidus caused by different molecular mechanisms. Hum. Mutat. 12: 196-205, 1998.
[0025190]15778.Nathan, D. G.; Baehner, R. L.; Weaver, D. K.: Failure of nitro blue tetrazolium reduction in the phagocytic vacuoles of leukocytes in chronic granulomatous disease. J. Clin. Invest. 48: 1895-1904, 1969.
[0025191]15779.Nelson, C. E.; Dahl, M. V.; Goltz, R. W.: Arcuate dermal erythema in a carrier of chronic granulomatous disease. Arch. Derm. 113: 789-800, 1977.
[0025192]15780.Newburger, P. E.; Cohen, H. J.; Rothchild, S. B.; Hobbins, J. C.; Malawista, S. E.; Mahoney, M. J.: Prenatal diagnosis of chronic granulomatous disease. New Eng. J. Med. 300: 178-181, 1979.
[0025193]15781.Noack, D.; Heyworth, P. G.; Kyono, W.; Cross, A. R.: A second case of somatic triple mosaicism in the CYBB gene causing chronic granulomatous disease. Hum. Genet. 109: 234-238, 2001.
[0025194]15782.Okamura, N.; Malawista, S. E.; Roberts, R. L.; Rosen, H.; Ochs, H. D.; Babior, B. M.; Curnutte, J. T.: Phosphorylation of the oxidase-related 48K phosphoprotein family in the unusual cytochrome-negative and X-linked cytochrome-positive types of chronic granulomatous disease. Blood 72: 811-816, 1988.
[0025195]15783.Orkin, S. H.: Stem cell alchemy. Nature Med. 6: 1212-1213, 2000.
[0025196]15784.Orkin, S. H.: X-linked chronic granulomatous disease: from chromosomal position to the in vivo gene product. Trends Genet. 3: 149-151, 1987.
[0025197]15785.Orkin, S. H.: Molecular genetics of chronic granulomatous disease. Annu. Rev. Immun. 7: 277-307, 1989.
[0025198]15786.Patino, P. J.; Perez, J. E.; Lopez, J. A.; Condino-Neto, A.; Grumach, A. S.; Botero, J. H.; Curnutte, J. T.; Garcia de Olarte, D.: Molecular analysis of chronic granulomatous disease caused by defects in gp91-phox. Hum. Mutat. 13: 29-37, 1999.
[0025199]15787.Pollock, J. D.; Williams, D. A.; Gifford, M. A. C.; Li, L. L.; Du, X.; Fisherman, J.; Orkin, S. H.; Doerschuk, C. M.; Dinauer, M. C.: Mouse model of X-linked chronic granulomatous disease, an inherited defect in phagocyte superoxide production. Nature Genet. 9: 202-209, 1995.
[0025200]15788.Porter, C. D.; Parkar, M. H.; Levinsky, R. J.; Collins, M. K. L.; Kinnon, C.: X-linked chronic granulomatous disease: correction of NADPH oxidase defect by retrovirus-mediated expression of gp91-phox. Blood 82: 2196-2202, 1993.
[0025201]15789.Quie, P. G.; White, J. G.; Holmes, B.; Good, R. A.: In vitro bactericidal capacity of human polymorphonuclear leukocytes: diminished activity in chronic granulomatous disease of childhood. J. Clin. Invest. 46: 668-679, 1967.
[0025202]15790.Rae, J.; Newburger, P. E.; Dinauer, M. C.; Noack, D.; Hopkins, P. J.; Kuruto, R.; Curnutte, J. T.: X-linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase. Am. J. Hum. Genet. 62: 1320-1331, 1998.
[0025203]15791.Roos, D.: The genetic basis of chronic granulomatous disease. Immun. Rev. 138: 121-157, 1994.
[0025204]15792.Roos, D.; de Boer, M.; Kuribayashi, F.; Meischl, C.; Weening, R. S.; Segal, A. W.; Ahlin, A.; Nemet, K.; Hossle, J. P.; Bernatowska-Matuszkiewicz, E.; Middleton-Price, H.: Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease. Blood 87: 1663-1681, 1996.
[0025205]15793.Royer-Pokora, B.; Kunkel, L. M.; Monaco, A. P.; Goff, S. C.; Newburger, P. E.; Baehner, R. L.; Cole, F. S.; Curnutte, J. T.; Orkin, S. H. : Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location. Nature 322: 32-38, 1986.
[0025206]15794.Schmalzer, E. A.; Miller, D. R.: Chronic granulomatous disease. Prog. Med. Genet. 1: 145-184, 1976.
[0025207]15795.Segal, A. W.: Cytochrome b(-245) and its involvement in the molecular pathology of chronic granulomatous disease. Hemat. Oncol. Clin. North Am. 2: 213-223, 1988. 100. Segal, A. W.; Cross, A. R.; Garcia, R. C.; Borregaard, N.; Valerius, N. H.; Soothill, J. F.; Jones, O. T. G.: Absence of cytochrome b(-245) in chronic granulomatous disease: a multicenter European evaluation of its incidence and relevance. New Eng. J. Med. 308: 245-251, 1983. 101. Segal, A. W.; Peters, T. J.: Characterisation of the enzyme defect in chronic granulomatous disease. Lancet I: 1363-1365, 1976. 102. Segal, A. W.; Webster, D.; Jones, O. T. G.; Allison, A. C.: Absence of a newly described cytochrome b from neutrophils of patients with chronic granulomatous disease. Lancet II: 446-449, 1978. 103. Soothill, J. F.: Inheritance of chronic granulomatous disease. (Letter) Lancet II: 543-544, 1969. 104. Southwick, F. S.; van der Meer, J. W. M.: Recurrent cystitis and bladder mass in two adults with chronic granulomatous disease. Ann. Intern. Med. 109: 118-121, 1988. 105. Stasia, M. J.; Lardy, B.; Maturana, A.; Rousseau, P.; Martel, C.; Bordigoni, P.; Demaurex, N.; Morel, F.: Molecular and functional characterization of a new X-linked chronic granulomatous disease variant (X91+) case with a double missense mutation in the cytosolic gp91phox C-terminal tail. Biochim. Biophys. Acta 1586: 316-330, 2002. 106. Taswell, H. F.; Lewis, J. C.; Marsh, W. L.; Wimer, B. M.; Pineda, A. A.; Brzica, S. M., Jr.: Erythrocyte morphology in genetic defects of the Rh and Kell blood group systems. Mayo Clin. Proc. 52: 157-159, 1977. 107. Tauber, A. I.; Borregaard, N.; Simons, E.; Wright, J.: Chronic granulomatous disease: a syndrome of phagocyte oxidase deficiencies. Medicine 62: 286-309, 1983. 108. Teahan, C.; Rowe, P.; Parker, P.; Totty, N.; Segal, A. W.: The X-linked chronic granulomatous disease gene codes for the beta-chain of cytochrome b(-245). Nature 327: 720-721, 1987. 109. Thompson, E. N.; Chandra, R. K.; Cope, W. A.; Soothill, J. F. : Leukocyte abnormality in both parents of a patient with chronic granulomatous disease. Lancet I: 799-800, 1969. 110. Thompson, E. N.; Soothill, J. F.: Chronic granulomatous disease: quantitative clinicopathological relationships. Arch. Dis. Child. 45: 24-32, 1970. 111. Tsuda, M.; Kaneda, M.; Sakiyama, T.; Inana, I.; Owada, M.; Kiryu, C.; Shiraishi, T.; Kakinuma, K.: A novel mutation at a probable heme-binding ligand in neutrophil cytochrome b(558) in atypical X-linked chronic granulomatous disease. Hum. Genet. 103: 377-381, 1998. 112. Windhorst, D. B.: Inheritance of chronic granulomatous disease. (Letter) Lancet II: 543-544, 1969. 113. Windhorst, D. B.; Holmes, B.; Good, R. A.: A newly defined X-linked trait in man with demonstration of the Lyon effect in carrier females. Lancet I: 737-739, 1967. 114. Wolff, G.; Muller, C. R.; Jobke, A.: Linkage of genes for chronic granulomatous disease and Xg. Hum. Genet. 54: 269-271, 1980.
[0025208]15796.Yen, P. H.; Ellison, J.; Salido, E. C.; Mohandas, T.; Shapiro, L.: Isolation of a new gene from the distal short arm of the human X chromosome that escapes X-inactivation. Hum. Molec. Genet. 1: 47-52, 1992.
[0025209]15797.Abrams, E. S.; Murdaugh, S. E.; Lerman, L. S.: Comprehensive detection of single base changes in human genomic DNA using denaturing gradient gel electrophoresis and a GC clamp. Genomics 7: 463-475, 1990.
[0025210]15798.Acquila, M.; Caprino, D.; Pecorara, M.; Baudo, F.; Morfini, M.; Mori, P. G.: Two novel mutations at 373 codon of FVIII gene detected by DGGE. Thromb. Haemost. 69: 392-393, 1993.
[0025211]15799.Alexander, B.; Goldstein, R.: Dual hemostatic defect in pseudohemophilia. (Abstract) J. Clin. Invest. 32: 551 only, 1953.
[0025212]15800.Aly, A. M.; Arai, M.; Hoyer, L. W.: Cysteamine enhances the procoagulant activity of factor VIII-East Hartford, a dysfunctional protein due to a light chain thrombin cleavage site mutation (arginine-1689 to cysteine). J. Clin. Invest. 89: 1375-1381, 1992.
[0025213]15801.Muller, C. R.; Migl, B.; Ropers, H.-H.; Happle, R.: Heterozygote detection in steroid sulphatase deficiency. (Letter) Lancet I: 546-547, 1980.
[0025214]15802.Muller, C. R.; Wahlstrom, J.; Ropers, H.-H.: Further evidence for the assignment of the steroid sulfatase X-linked ichthyosis locus to the telomer of Xp. (Letter) Hum. Genet. 58: 446, 1981.
[0025215]15803.Munke, M.; Kruse, K.; Goos, M.; Ropers, H. H.; Tolksdorf, M.: Genetic heterogeneity of the ichthyosis, hypogonadism, mental retardation, and epilepsy syndrome: clinical and biochemical investigations on two patients with Rud syndrome and review of the literature. Europ. J. Pediat. 141: 8-13, 1983.
[0025216]15804.Nomura, K.; Nakano, H.; Umeki, K.; Harada, K.; Kon, A.; Tamai, K.; Sawamura, D.; Hashimoto, I.: A study of the steroid sulfatase gene in families with X-linked ichthyosis using polymerase chain reaction. Acta Derm. Venereol. 75: 340-342, 1995.
[0025217]15805.Okano, M.; Kitano, Y.; Nakamura, T.; Matsuzawa, Y.: Detection of heterozygotes of X-linked ichthyosis by measuring steroid sulphatase activity of lymphocytes: mode of inheritance in three families. Brit. J. Derm. 113: 645-649, 1985.
[0025218]15806.Orel, H.: Die Vererbung der Ichthyosis congenita und der Ichthyosis vulgaris. Z. Kinderheilk. 47: 312-340, 1929.
[0025219]15807.Passarge, E.; Post, B.; Schopf, E.: Possible genetic heterogeneity of X-linked ichthyosis. Birth Defects Orig. Art. Ser. VII(8): 46-49, 1971.
[0025220]15808.Pike, M. G.; Hammerton, M.; Edge, J.; Atherton, D. J.; Grant, D. B.: A family with Xlinked ichthyosis and hypogonadism. Europ. J. Pediat. 148: 442-444, 1989.
[0025221]15809.Ropers, H.-H.; Migl, B.; Zimmer, J.; Fraccaro, M.; Maraschio, P. P.; Westerveld, A.: Activity of steroid sulfatase in fibroblasts with numerical and structural X chromosome aberrations. Hum. Genet. 57: 354-356, 1981.
[0025222]15810.Ropers, H.-H.; Wiberg, U.: Evidence for X-linkage and non-inactivation of steroid sulphatase locus in wood lemming. Nature 296: 766-767, 1982.
[0025223]15811.Ross, J. B.; Allderdice, P. W.; Shapiro, L. J.; Aveling, J.; Eales, B. A.; Simms, D., Jr.: Familial X-linked ichthyosis, steroid sulfatase deficiency, mental retardation, and nullisomy for Xp223-pter. Arch. Derm. 121: 1524-1528, 1985.
[0025224]15812.Salido, E. C.; Li, X. M.; Yen, P. H.; Martin, N.; Mohandas, T. K.; Shapiro, L. J.: Cloning and expression of the mouse pseudoautosomal steroid sulphatase gene (Sts). Nature Genet. 13: 83-86, 1996.
[0025225]15813.Schlammadinger, J.; Meyer, J. C.; Vajda, I.; Szabo, G.: X-linked recessive ichthyosis: reinvestigation of a family first described in 1928. Dermatologica 175: 217-223, 1987.
[0025226]15814.Schmickel, R. D.: Chromosomal deletions and enzyme deficiencies. J. Pediat. 108: 244-246, 1986. 100. Schnyder, U. W.: Inherited ichthyoses. Arch. Derm. 102: 240-252, 1970. 101. Sever, R. J.; Frost, P.; Weinstein, G.: Eye changes in ichthyosis. J.A.M.A. 206: 2283-2286, 1968. 102. Shapiro, L. J.: Personal Communication. Los Angeles, Calif. 3/1987. 103. Shapiro, L. J.: Personal Communication. San Francisco, Calif. 5/20/1997. 104. Shapiro, L. J.: Personal Communication. Torrance, Calif. 1977. 105. Shapiro, L. J.; Mohandas, T.; Weiss, R.; Romeo, G.: Non-activation of a X-chromosome locus in man. Science 204: 1224-1226, 1979. 106. Shapiro, L. J.; Weiss, R.: Diminished cholesterol sulfatase activity in fibroblasts of placental sulfatase deficiency patients. (Abstract) Vth Int. Conf. on Birth Defects, Montreal , 8/1977. 107. Shapiro, L. J.; Weiss, R.; Buxman, M. M.; Vidgoff, J.; Dimond, R. L.: Enzymatic basis of typical X-linked ichthyosis. Lancet II: 756-757, 1978. 108. Shapiro, L. J.; Weiss, R.; Webster, D.; France, J. T.: X-linked ichthyosis due to steroid-sulphatase deficiency. Lancet I: 70-72, 1978. 109. Shapiro, L. J.; Yen, P.; Pomerantz, D.; Martin, E.; Rolewic, L.; Mohandas, T.: Molecular studies of deletions at the human steroid sulfatase locus. Proc. Nat. Acad. Sci. 86: 8477-8481, 1989. 110. Shapiro, L. J.; Yen, P. H.: Reply to letter of Andria et al., 1987. (Letter) Ann. Neurol. 22: 99, 1987. 111. Shapiro, L. J.; Yen, P. H.; Marsh, B.; Mohandas, T.: Frequent deletions at the steroid sulfatase (STS) locus. (Abstract) Am. J. Hum. Genet. 41: A238, 1987. 112. Solomon, I. L.; Schoen, E. J.: Sex-linked ichthyosis in XO gonadal dysgenesis. (Letter) Lancet I: 1304-1305, 1971. 113. Stein, C.; Hille, A.; Seidel, J.; Rijnbout, S.; Waheed, A.; Schmidt, B.; Geuze, H.; von Figura, K.: Cloning and expression of human steroid-sulfatase: membrane topology, glycosylation, and subcellular distribution in BHK-21 cells. J. Biol. Chem. 264: 13865-13872, 1989. 114. Steinmann, B.; Mieth, D.; Gitzelmann, R.: A newly recognized cause of low urinary estriol in pregnancy: multiple sulfatase deficiency of the fetus. Gynec. Obstet. Invest. 12: 107-109, 1981. 115. Stoll, C.; Grosshans, E.; Binder, P.; Roth, M.: Hypertrophic pyloric stenosis associated with X-linked ichthyosis in two brothers. Clin. Exp. Derm. 8: 61-64, 1983. 116. Sunohara, N.; Sakuragawa, N.; Satoyoshi, E.; Tanae, A.; Shapiro, L. J.: A new syndrome of anosmia, ichthyosis, hypogonadism, and various neurological manifestations with deficiency of steroid sulphatase and arylsulphatase C. Ann. Neurol. 19: 174-181, 1986. 117. Tabei, F.; Heinrichs, W. L.: Diagnosis of placental sulfatase deficiency. Am. J. Obstet. Gynec. 124: 409-414, 1976. 118. Tiepolo, L.; Zuffardi, O.; Fraccaro, M.; di Natale, D.; Gargantini, L.; Muller, C. R.; Ropers, H.-H.: Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223. Hum. Genet. 54: 205-206, 1980. 119. Toder, R.; Rappold, G. A.; Schiebel, K.; Schempp, W.: ANT3 and STS are autosomal in prosimian lemurs: implications for the evolution of the pseudoautosomal region. Hum. Genet. 95: 22-28, 1995. 120. Traupe, H.; Happle, R.: Clinical spectrum of steroid sulfatase deficiency: X-linked recessive ichthyosis, birth complications, and cryptorchidism. Europ. J. Pediat. 140: 19-21, 1983. 121. Traupe, H.; Muller-Migl, C. R.; Kolde, G.; Happle, R.; Kovary, P. M.; Hameister, H.; Ropers, H. H.: Ichthyosis vulgaris with hypogenitalism and hypogonadism: evidence for different genotypes by lipoprotein electrophoresis and steroid sulfatase testing. Clin. Genet. 25: 42-51, 1984. 122. Traupe, H.; Ropers, H.-H.: Cryptorchidism and hypogenitalism in X-linked recessive ichthyosis vulgaris. (Letter) Hum. Genet. 60: 206, 1982. 123. Turpin, R.; Desvignes, P.; Demassieux, J.-L.: Sur une variete d'ichthyose hereditaire avec alteration du fond d'oeil. Nouveau syndrome ectoblastique?. Sem. Hop. Paris 21: 343, 1945. 124. Valdes-Flores, M.; Kofman-Alfaro, S. H.; Jimenez-Vaca, A. L.; Cuevas-Covarrubias, S. A.: Carrier identification by FISH analysis in isolated cases of X-linked ichthyosis. Am. J. Med. Genet. 102: 146-148, 2001. 125. Valdes-Flores, M.; Kofman-Alfaro, S. H.; Jimenez Vaca, A. L.; Cuevas-Covarrubias, S. A.: A novel partial deletion of exons 2-10 of the STS gene in recessive X-linked ichthyosis. J. Invest. Derm. 114: 591-593, 2000. 126. Vogel, W.; Grompe, M.; Storz, R.; Pentz, S.: A comparative study on steroid sulfatase and arylsulfatase C in fibroblast clones from 45,X/47,XXX and 69,XXY. Hum. Genet. 66: 367-369, 1984. 127. Wells, R. S.; Jennings, M. C.: X-linked ichthyosis and ichthyosis vulgaris: clinical and genetic distinctions in a second series of families. J.A.M.A. 202: 485-488, 1967. 128. Went, L. N.; DeGroot, W. P.; Sanger, R.; Tippett, P.; Gavin, J.: X-linked ichthyosis: linkage relationship with the Xg blood groups and other studies in a large Dutch kindred. Ann. Hum. Genet. 32: 333-346, 1969. 129. Wieacker, P.; Davies, K. E.; Mevorah, B.; Ropers, H. H.: Linkage studies in a family with X-linked recessive ichthyosis employing a cloned DNA sequence from the distal short arm of the X chromosome. Hum. Genet. 63: 113-116, 1983. 130. Willard, H. F.; Holmes, M. T.: A sensitive and dependable assay for distinguishing hamster and human X-linked steroid sulfatase activity in somatic cell hybrids. Hum. Genet. 66: 272-275, 1984. 131. Wirth, B.; Herrmann, F. H.; Neugebauer, M.; Gillard, E. F.; Wulff, K.; Stein, C.; von Figura, K.; Ferguson-Smith, M. A.; Gal, A.: Linkage analysis in X-linked ichthyosis (steroid sulfatase deficiency). Hum. Genet. 80: 191-192, 1988. 132. Yen, P. H.; Allen, E.; Marsh, B.; Mohandas, T.; Wang, N.; Taggart, R. T.; Shapiro, L. J.: Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: implications for X-Y interchange. Cell 49: 443-454, 1987. 133. Yen, P. H.; Marsh, B.; Allen, E.; Tsai, S. P.; Ellison, J.; Connolly, L.; Neiswanger, K.; Shapiro, L. J.: The human X-linked steroid sulfatase gene and a Y-encoded pseudogene: evidence for an inversion of the Y chromosome during primate evolution. Cell 55: 1123-1135, 1988. 134. Zettersten, E.; Man, M.-Q.; Sato, J.; Denda, M.; Farrell, A.; Ghadially, R.; Williams, M. L.; Feingold, K. R.; Elias, P. M. Recessive X-linked ichthyosis: role of cholesterol-sulfate accumulation in the barrier abnormality. J. Invest. Derm. 111: 784-790, 1998.
[0025227]15815.Holinski-Feder, E.; Chahrokh-Zadeh, S.; Jedele, K. B.; Meindl, A.; Steinbach, P.; Wohrle, D.: FRAXE testing. (Letter) Am. J. Hum. Genet. 59: 1168-1169, 1996.
[0025228]15816.Knight, S. J. L.; Flannery, A. V.; Hirst, M. C.; Campbell, L.; Christodoulou, Z.; Phelps, S. R.; Middleton-Price, H. R.; Bamicoat, A.; Pembrey, M. E.; Holland, J.; Bobrow, M.; Oostra, B. A.; Davies, K. E.: FRAXE mental retardation associated with trinucleotide repeat expansion and hypermethylation of a CpG island in Xq28. (Abstract) Am. J. Hum. Genet. 53 (suppl.): A79, 1993.
[0025229]15817.Knight, S. J. L.; Flannery, A. V.; Hirst, M. C.; Campbell, L.; Christodoulou, Z.; Phelps, S. R.; Pointon, J.; Middleton-Price, H. R.; Barnicoat, A.; Pembrey, M. E.; Holland, J.; Oostra, B. A.; Bobrow, M.; Davies, K. E.: Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Cell 74: 127-134, 1993.
[0025230]15818.Knight, S. J. L.; Ritchie, R. J.; Chakrabarti, L.; Cross, G.; Taylor, G. R.; Mueller, R. F.; Hurst, J.; Paterson, J.; Yates, J. R. W.; Dow, D. J.; Davies, K. E.: A study of FRAXE in mentally retarded individuals referred for fragile X syndrome (FRAXA) testing in the United Kingdom. Am. J. Hum. Genet. 58: 906-913, 1996.
[0025231]15819.Knight, S. J. L.; Voelckel, M. A.; Hirst, M. C.; Flannery, A. V.; Moncla, A.; Davies, K. E.: Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap. Am. J. Hum. Genet. 55: 81-86, 1994.
[0025232]15820.Mila, M.; Sanchez, A.; Badenas, C.; Brun, C.; Jimenez, D.; Villa, M. P.; Castellvi-Bel, S.; Estivill, X.: Screening for FMR1 and FMR2 mutations in 222 individuals from Spanish special schools: identification of a case of FRAXE-associated mental retardation. Hum. Genet. 100: 503-507, 1997.
[0025233]15821.Mulley, J. C.; Yu, S.; Loesch, D. Z.; Hay, D. A.; Donnelly, A.; Gedeon, A. K.; Carbonell, P.; Lopez, I.; Glover, G.; Gabarron, I.; Yu, P. W. L.; Baker, E.; Haan, E. A.; Hockey, A.; Knight, S. J. L.; Davies, K. E.; Richards, R. I.; Sutherland, G. R.: FRAXE and mental retardation. J. Med. Genet. 32: 162-169, 1995.
[0025234]15822.Murray, A.; Webb, J.; Dennis, N.; Conway, G.; Morton, N.: Microdeletions in FMR2 may be a significant cause of premature ovarian failure. J. Med. Genet. 36: 767-770, 1999.
[0025235]15823.Russo, S.; Selicorni, A.; Bedeschi, M. F.; Natacci, F.; Viziello, P.; Fortuna, R.; Pagani, G.; Dalpra, L.; Larizza, L.: Molecular characterization of FRAXE-positive subjects with mental impairment in two unrelated Italian families. Am. J. Med. Genet. 75: 304-308, 1998.
[0025236]15824.Sutherland, G. R.: Personal Communication. Adelaide, Australia 11/17/1993.
[0025237]15825.Sutherland, G. R.; Baker, E.: Characterisation of a new rare fragile site easily confused with the fragile X. Hum. Molec. Genet. 1: 111-113, 1992.
[0025238]15826.Abitbol, M.; Menini, C.; Delezoide, A.-L.; Rhyner, T.; Vekemans, M.; Mallet, J.: Nucleus basalis magnocellularis and hippocampus are the major sites of FMR-1 expression in the human fetal brain. Nature Genet. 4: 147-153, 1993.
[0025239]15827.Abrams, M. T.; Kaufmann, W. E.; Rousseau, F.; Oostra, B. A.; Wolozin, B.; Taylor, C. V.; Lishaa, N.; Morel, M.-L.; Hoogeveen, A.; Reiss, A. L.: FMR1 gene expression in olfactory neuroblasts from two males with fragile X syndrome. Am. J. Med. Genet. 82: 25-30, 1999.
[0025240]15828.Allingham-Hawkins, D. J.; Babul-Hirji, R.; Chitayat, D.; Holden, J. J. A.; Yang, K. T.; Lee, C.; Hudson, R.; Gorwill, H.; Nolin, S. L.; Glicksman, A.; Jenkins, E. C.; Brown, W. T.; and 27 others: Fragile X premutation is a significant risk factor for premature ovarian failure: the international collaborative POF in fragile X study--preliminary data. Am. J. Med. Genet. 83: 322-325, 1999.
[0025241]15829.Ashley, C. T.; Sutcliffe, J. S.; Kunst, C. B.; Leiner, H. A.; Eichler, E. E.; Nelson, D. L.; Warren, S. T.: Human and murine FMR-1: alternative splicing and translational initiation downstream of the CGG-repeat. Nature Genet. 4: 244-251, 1993.
[0025242]15830.Ashley, C. T., Jr.; Wilkinson, K. D.; Reines, D.; Warren, S. T. : FMR1 protein: conserved RNP family domains and selective RNA binding. Science 262: 563-566, 1993.
[0025243]15831.Bachner, D.; Steinbach, P.; Wohrle, D.; Just, W.; Vogel, W.; Hameister, H.; Manca, A.; Poustka, A.: Enhanced Fmr-1 expression in testis. (Letter) Nature Genet. 4: 115-116, 1993.
[0025244]15832.Backes, M.; Genc, B.; Schreck, J.; Doerfler, W.; Lehmkuhl, G.; von Gontard, A.: Cognitive and behavioral profile of fragile X boys: correlations to molecular data. Am. J. Med. Genet. 95: 150-156, 2000.
[0025245]15833.Maglott, D. R.; Durkin, A. S.; Lane, S. A.; Callen, D. F.; Feldblyum, T. V.; Nierman, W. C.: The gene for membrane protein E16 (D16S469E) maps to human chromosome 16q24.3 and is expressed in human brain, thymus, and retina. Genomics 23: 303-304, 1994.
[0025246]15834.Kastury, K.; Druck, T.; Huebner, K.; Barletta, C.; Acampora, D.; Simeone, A.; Faiella, A.; Boncinelli, E.: Chromosome locations of human EMX and OTX genes. Genomics 22: 41-45, 1994.
[0025247]15835.Simeone, A.; Acampora, D.; Gulisano, M.; Stornaiuolo, A.; Boncinelli, E.: Nested expression domains of four homeobox genes in developing rostral brain. Nature 358: 687-690, 1992.
[0025248]15836.Bishop, K. M.; Goudreau, G.; O'Leary, D. D. M.: Regulation of area identity in the mammalian neocortex by Emx2 and Pax6. Science 288: 344-349, 2000.
[0025249]15837.Boncinelli, E.; Gulisano, M.; Spada, F.; Broccoli, V.: Emx and Otx gene expression in the developing mouse brain. Ciba Found. Symp. 193: 100-116, 1995.
[0025250]15838.Bosetti, A.; Faiella, A.; Boncinelli, E.; Consalez, G. G.: Linkage mapping of Emx2 to mouse chromosome 19. Mammalian Genome 8: 71-72, 1997.
[0025251]15839.Noonan, F. C.; Mutch, D. G.; Mallon, M. A.; Goodfellow, P. J.: Characterization of the homeodomain gene EMX2: sequence conservation, expression analysis, and a search for mutations in endometrial cancers. Genomics 76: 37-44, 2001.
[0025252]15840.Acampora, D.; Mazan, S.; Avantaggiato, V.; Barone, P.; Tuorto, F.; Lallemand, Y.; Brulet, P.; Simeone, A.: Epilepsy and brain abnormalities in mice lacking the Otx1 gene. Nature Genet. 14: 218-222, 1996.
[0025253]15841.Boncinelli, E.; Gulisano, M.; Broccoli, V.: Emx and Otx homeobox genes in the developing mouse brain. J. Neurobiol. 24: 1356-1366, 1993.
[0025254]15842.Frantz, G. D.; Weimann, J. M.; Levin, M. E.; McConnell, S. K.: Otx1 and Otx2 define layers and regions in developing cerebral cortex and cerebellum. J. Neurosci. 14: 5725-5740, 1994.
[0025255]15843.Avraham, S.; Jiang, S.; Ota, S.; Fu, Y.; Deng, B.; Dowler, L. L.; White, R. A.; Avraham, H.: Structural and functional studies of the intracellular tyrosine kinase MATK gene and its translated product. J. Biol. Chem. 270: 1833-1842, 1995.
[0025256]15844.Bennett, B. D.; Cowley, S.; Jiang, S.; London, R.; Deng, B.; Grabarek, J.; Groopman, J. E.; Goeddel, D. V.; Avraham, H.: Identification and characterization of a novel tyrosine kinase from megakaryocytes. J. Biol. Chem. 269: 1068-1074, 1994.
[0025257]15845.Klages, S.; Adam, D.; Class, K.; Fargnoli, J.; Bolen, J. B.; Penhallow, R. C.: Ctk: a protein-tyrosine kinase related to Csk that defines an enzyme family. Proc. Nat. Acad. Sci. 91: 2597-2601, 1994.
[0025258]15846.Sakano, S.; Iwama, A.; Inazawa, J.; Ariyama, T.; Ohno, M.; Suda, T.: Molecular cloning of a novel non-receptor tyrosine kinase, HYL (hematopoietic consensus tyrosine-lacking kinase). Oncogene 9: 1155-1161, 1994.
[0025259]15847.Zrihan-Licht, S.; Lim, J.; Keydar, I.; Sliwkowski, M. X.; Groopman, J. E.; Avraham, H.: Association of Csk-homologous kinase (CHK) (formerly MATK) with HER-2/ErbB-2 in breast cancer cells. J. Biol. Chem. 272: 1856-1863, 1997.
[0025260]15848.Shimizu, S.; Narita, M.; Tsujimoto, Y.: Bcl-2 family proteins regulate the release of apoptogenic cytochrome c by the mitochondrial channel VDAC. Nature 399: 483-487, 1999.
[0025261]15849.Nichols, A. F.: Personal Communication. Berkeley, Calif. 10/4/1995.
[0025262]15850.Campbell, H. D.; Schimansky, T.; Claudianos, C.; Ozsarac, N.; Kasprzak, A. B.; Cotsell, J. N.; Young, I. G.; de Couet, H. G.; Gabor Miklos, G. L.: The Drosophila melanogaster flightless-I gene involved in gastrulation and muscle degeneration encodes gelsolin-like and leucine-rich repeat domains and is conserved in Caenorhabditis elegans and humans. Proc. Nat. Acad. Sci. 90: 11386-11390, 1993.
[0025263]15851.Harmon, D. L.; Gardner-Medwin, D.; Stirling, J. L.: Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene. J. Med. Genet. 30: 123-128, 1993.
[0025264]15852.Buckle, V.; Mondello, C.; Darling, S.; Craig, I. W.; Goodfellow, P. N.: Homologous expressed genes in the human sex chromosome pairing region. Nature 317: 739-741, 1985.
[0025265]15853.Slaugenhaupt, S. A.; Roca, A. L.; Liebert, C. B.; Altherr, M. R.; Gusella, J. F.; Reppert, S. M.: Mapping of the gene for the Mel1a-melatonin receptor to human chromosome 4 (MTNR1A) and mouse chromosome 8 (Mtnr1a). Genomics 27: 355-357, 1995.
[0025266]15854.Hulsebos, T. J. M.; Cerosaletti, K. M.; Fournier, R. E. K.; Sinke, R. J.; Rocchi, M.; Marzella, R.; Jenkins, N. A.; Gilbert, D. J.; Copeland, N. G.: Identification of the human beta-A2 crystallin gene (CRYBA2): localization of the gene on human chromosome 2 and of the homologous gene on mouse chromosome 1. Genomics 28: 543-548, 1995.
[0025267]15855.Grimsby, J.; Toth, M.; Chen, K.; Kumazawa, T.; Klaidman, L.; Adams, J. D.; Karoum, F.; Gal, J.; Shih, J. C.: Increased stress response and beta-phenylethylamine in MAOB-deficient mice. Nature Genet. 17: 206-210, 1997.
[0025268]15856.Lenders, J. W. M.; Eisenhofer, G.; Abeling, N. G. G. M.; Berger, W.; Murphy, D. L.; Konings, C. H.; Bleeker Wagemakers, L. M.; Kopin, I. J.; Karoum, F.; van Gennip, A. H.; Brunner, H. G.: Specific genetic deficiencies of the A and B isoenzymes of monoamine oxidase are characterized by distinct neurochemical and clinical phenotypes. J. Clin. Invest. 97: 1010-1019, 1996.
[0025269]15857.Rice, J.; McGuffin, P.; Goldin, L. R.; Shaskan, E. G.; Gershon, E. S.: Platelet monoamine oxidase (MAO) activity: evidence for a single major locus. Am. J. Hum. Genet. 36: 36-43, 1984.
[0025270]15858.Weinshilboum, R. M.: Biochemical genetics of catecholamines in humans. Mayo Clin. Proc. 58: 319-330, 1983.
[0025271]15859.Wyatt, R. J.; Murphy, D. L.; Belmaker, R.; Cohen, S.; Donnelly, C. H.; Pollin, W.: Reduced monoamine oxidase activity in platelets: a possible genetic marker for vulnerability to schizophrenia. Science 179: 916-918, 1973.
[0025272]15860.Hattori, Y.; Yamashiro, Y.; Ohba, Y.; Miyaji, T.; Morishita, M.; Yamamoto, K.; Yamamoto, K.; Narai, S.; Kimura, A.: A new beta-thalassemia mutation (initiation codon ATG-to-GTG) found in the Japanese population. Hemoglobin 15: 317-325, 1991.
[0025273]15861.Holmes, L. B.: Norrie's disease--an X-linked syndrome of retinal malformation, mental retardation and deafness. New Eng. J. Med. 284: 367-368, 1971.
[0025274]15862.Isashiki, Y.; Ohba, N.; Yanagita, T.; Hokita, N.; Doi, N.; Nakagawa, M.; Ozawa, M.; Kuroda, N.: Novel mutation at the initiation codon in the Norrie disease gene in two Japanese families. Hum. Genet. 95: 105-108, 1995.
[0025275]15863.Isashiki, Y.; Ohba, N.; Yanagita, T.; Hokita, N.; Hotta, Y.; Hayakawa, M.; Fujiki, K.; Tanabe, U.: Mutations in the Norrie disease gene: a new mutation in a Japanese family. (Letter) Brit. J. Ophthal. 79: 703-708, 1995.
[0025276]15864.Johnson, K.; Mintz-Hittner, H. A.; Conley, Y. P.; Ferrell, R. E.: X-linked exudative vitreoretinopathy caused by an arginine to leucine substitution (R121L) in the Norrie disease protein. Clin. Genet. 50: 113-115, 1996.
[0025277]15865.Johnston, S. S.; Hanna, J. E.; Nevin, N. C.; Bryars, J. H.: Norrie's disease. Birth Defects Orig. Art. Ser. 18(6): 729-738, 1982.
[0025278]15866.Katayama, S.; Wohlferd, M.; Golbus, M. S.: First demonstration of recombination between the gene for Norrie disease and probe L1.28. Am. J. Med. Genet. 30: 967-970, 1988.
[0025279]15867.Kivlin, J. D.; Sanborn, G. E.; Wright, E.; Cannon, L.; Carey, J.: Further linkage data on Norrie disease. Am. J. Med. Genet. 26: 733-736, 1987.
[0025280]15868.Lindsay, S.; Thiselton, D. L.; Bateman, J. B.; Ngo, J. T.; Sparkes, R. S.; Coleman, M.; Davies, K. E.; Bhattacharya, S. S.: Localisation of the gene for Norrie disease to between DXS7 and DXS426 on Xp. Hum. Genet. 88: 349-350, 1992.
[0025281]15869.Meindl, A.; Berger, W.; Meitinger, T.; van de Pol, D.; Achatz, H.; Dorner, C.; Haasemann, M.; Hellebrand, H.; Gal, A.; Cremers, F.; Ropers, H.-H.: Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins. Nature Genet. 2: 139-143, 1992.
[0025282]15870.Meindl, A.; Lorenz, B.; Achatz, H.; Hellebrand, H.; Schmitz-Valckenberg, P.; Meitinger, T.: Missense mutations in the NDP gene in patients with a less severe course of Norrie disease. Hum. Molec. Genet. 4: 489-490, 1995.
[0025283]15871.Meitinger, T.; Meindl, A.; Bork, P.; Rost, B.; Sander, C.; Haasemann, M.; Murken, J.: Molecular modeling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure. Nature Genet. 5: 376-380, 1993.
[0025284]15872.Moreira-Filho, C. A.; Neustein, I.: A presumptive new variant of Norrie's disease. J. Med. Genet. 16: 125-128, 1979.
[0025285]15873.Nance, W. E.; Hara, S.; Hansen, A.; Elliott, J.; Lewis, M.; Chown, B.: Genetic linkage studies in a Negro kindred with Norrie's disease. Am. J. Hum. Genet. 21: 423-429, 1969.
[0025286]15874.Ngo, J.; Spence, M. A.; Cortessis, V.; Bateman, J. B.; Sparkes, R. S.: Duplicate report crossing over in Norrie disease family. (Letter) Am. J. Med. Genet. 33: 286, 1989.
[0025287]15875.Ngo, J. T.; Bateman, J. B.; Cortessis, V.; Sparkes, R. S.; Mohandas, T.; Inana, G.; Spence, M. A.: Norrie disease: linkage analysis using a 4.2-kb RFLP detected by a human ornithine aminotransferase cDNA probe. Genomics 4: 539-545, 1989.
[0025288]15876.Ngo, J. T.; Spence, M. A.; Cortessis, V.; Sparkes, R. S.; Bateman, J. B.: Recombinational event between Norrie disease and DXS7 loci. Clin. Genet. 34: 43-47, 1988.
[0025289]15877.Norrie, G.: Nogle Blindhedsaarsager: en oversigt. Hospitalstidende 76: 141-147, 1933.
[0025290]15878.Ohba, N.; Yamashita, T.: Primary vitreoretinal dysplasia resembling Norrie's disease in a female: association with X autosome chromosomal translocation. Brit. J. Ophthal. 70: 64-71, 1986.
[0025291]15879.Phillips, C. I.; Newton, M.; Duvall, J.; Holloway, S.; Levy, A. M.: Probably Norrie's disease due to mutation: two sporadic sibships of two males each, a necropsy of one case, and, given Norrie's disease, a calculation of the gene mutation frequency. Brit. J. Ophthal. 70: 305-313, 1986.
[0025292]15880.Rehm, H. L.; Gutierrez-Espeleta, G. A.; Garcia, R.; Jimenez, G.; Khetarpal, U.; Priest, J. M.; Sims, K. B.; Keats, B. J. B.; Morton, C. C.: Norrie disease gene mutation in a large Costa Rican kindred with a novel phenotype including venous insufficiency. Hum. Mutat. 9: 402-408, 1997.
[0025293]15881.Schuback, D. E.; Chen, Z. Y.; Craig, I. W.; Breakefield, X. O.; Sims, K. B.: Mutations in the Norrie disease gene. Hum. Mutat. 5: 285-292, 1995.
[0025294]15882.Shastry, B. S.: Identification of a recurrent missense mutation in the Norrie disease gene associated with a simplex case of exudative vitreoretinopathy. Biochem. Biophys. Res. Commun. 246: 35-38, 1998.
[0025295]15883.Shastry, B. S.; Hejtmancik, J. F.; Plager, D. A.; Hartzer, M. K.; Trese, M. T.: Linkage and candidate gene analysis in X-linked familial exudative vitreoretinopathy. Genomics 27: 341-344, 1995.
[0025296]15884.Shastry, B. S.; Hejtmancik, J. F.; Trese, M. T.: Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy. Hum. Mutat. 9: 396-401, 1997.
[0025297]15885.Sims, K. B.; Lebo, R. V.; Benson, G.; Shalish, C.; Schuback, D.; Chen, Z. Y.; Bruns, G.; Craig, I. W.; Golbus, M. S.; Breakefield, X. O.: The Norrie disease gene maps to a 150 kb region on chromosome Xp11.3. Hum. Molec. Genet. 1: 83-89, 1992.
[0025298]15886.Sims, K. B.; Ozelius, L.; Corey, T.; Rinehart, W. B.; Liberfarb, R.; Haines, J.; Chen, W. J.; Norio, R.; Sankila, E.; de la Chapelle, A.; Murphy, D. L.; Gusella, J.; Breakefield, X. O.: Norrie disease gene is distinct from the monoamine oxidase genes. Am. J. Hum. Genet. 45: 424-434, 1989.
[0025299]15887.Taylor, P. J.; Coates, T.; Newhouse, M. L.: Episkopi blindness: hereditary blindness in a Greek Cypriot family. Brit. J. Ophthal. 43: 340-344, 1959.
[0025300]15888.Torrente, I.; Mangino, M.; Gennarelli, M.; Novelli, G.; Giannotti, A.; Vadala, P.; Dallapiccola, B.: Two new missense mutations (A105T and C110G) in the norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy. (Letter) Am. J. Med. Genet. 72: 242-244, 1997.
[0025301]15889.Burgoyne, P. S.: Genetic homology and crossing over in the X and Y chromosomes of mammals. Hum. Genet. 61: 85-90, 1982.
[0025302]15890.Cooke, H. J.; Brown, W. R. A.; Rappold, G. A.: Hypervariable telomeric sequences from the human sex chromosomes are pseudoautosomal. Nature 317: 687-692, 1985.
[0025303]15891.Darling, S. M.; Banting, G. S.; Pym, B.; Wolfe, J.; Goodfellow, P. N.: Cloning an expressed gene shared by the human sex chromosomes. Proc. Nat. Acad. Sci. 83: 135-139, 1986.
[0025304]15892.Dracopoli, N. C.; Rettig, W. J.; Albino, A. P.; Esposito, D.; Archidiacono, N.; Rocchi, M.; Siniscalco, M.; Old, L. J.: Genes controlling gp25/30 cell-surface molecules map to chromosomes X and Y and escape X-inactivation. Am. J. Hum. Genet. 37: 199-207, 1985.
[0025305]15893.Gelin, C.; Aubrit, F.; Phalipon, A.; Raynal, B.; Cole, S.; Kaczorek, M.; Bernard, A.: The E2 antigen, a 32 kD glycoprotein involved in T-cell adhesion processes, is the MIC2 gene product. EMBO J. 8: 3253-3259, 1989.
[0025306]15894.Geller, R. L.; Shapiro, L. J.; Mohandas, T. K.: Fine mapping of the distal short arm of the human X chromosome using X/Y translocations. Am. J. Hum. Genet. 38: 884-890, 1986.
[0025307]15895.Goodfellow, P.; Banting, G.; Sheer, D.; Ropers, H. H.; Caine, A.; Ferguson-Smith, M. A.; Povey, S.; Voss, R.: Genetic evidence that a Y-linked gene in man is homologous to a gene on the X chromosome. Nature 302: 346-349, 1983.
[0025308]15896.Goodfellow, P.; Pym, B.; Mohandas, T.; Shapiro, L. J.: The cell surface antigen locus, MIC2X, escapes X-inactivation. Am. J. Hum. Genet. 36: 777-782, 1984.
[0025309]15897.Goodfellow, P. J.; Darling, S. M.; Thomas, N. S.; Goodfellow, P. N.: A pseudoautosomal gene in man. Science 234: 740-743, 1986.
[0025310]15898.Goodfellow, P. N.; Tippett, P.: A human quantitative polymorphism related to Xg blood groups. Nature 289: 404-405, 1981.
[0025311]15899.Levy, R.; Dilley, J.; Fox, R. I.; Warnke, R.: A human thymus-leukemia antigen defined by hybridoma monoclonal antibodies. Proc. Nat. Acad. Sci. 76: 6552-6556, 1979.
[0025312]15900.Pettersen, R. D.; Bernard, G.; Olafsen, M. K.; Pourtein, M.; Lie, S. O.: CD99 signals caspase-independent T cell death. J. Immun. 166: 4931-4942, 2001.
[0025313]15901.Ropers, H. H.; Zimmer, J.; Strobl, G.; Goodfellow, P.: The MIC2X (12E7) locus maps distally from STS on Xp. (Abstract) Cytogenet. Cell Genet. 40: 736 only, 1985.
[0025314]15902.Simmler, M.-C.; Rouyer, F.; Vergnaud, G.; Nystrom-Lahti, M.; Ngo, K. Y.; de la Chapelle, A.; Weissenbach, J.: Pseudoautosomal DNA sequences in the pairing region of the human sex chromosomes. Nature 317: 692-697, 1985.
[0025315]15903.Tippett, P.; Shaw, M.-A.; Green, C. A.; Daniels, G. L.: The 12E7 red cell quantitative polymorphism: control by the Y-borne locus, Yg. Ann. Hum. Genet. 50: 339-347, 1986.
[0025316]15904.Janz, R.; Sudhof, T. C.; Hammer, R. E.; Unni, V.; Siegelbaum, S. A.; Bolshakov, V. Y.: Essential roles in synaptic plasticity for synaptogyrin I and synaptophysin I. Neuron 24: 687-700, 1999.
[0025317]15905.McMahon, H. T.; Bolshakov, V. Y.; Janz, R.; Hammer, R. E.; Siegelbaum, S. A.; Sudhof, T. C.: Synaptophysin, a major synaptic vesicle protein, is not essential for neurotransmitter release. Proc. Nat. Acad. Sci. 93: 4760-4764, 1996.
[0025318]15906.Brown, C. J.; Sekiguchi, T.; Nishimoto, T.; Willard, H. F.: Regional localization of CCG1 gene which complements hamster cell cycle mutation BN462 to Xq11-Xq13. Somat. Cell Molec. Genet. 15: 93-96, 1989.
[0025319]15907.Derry, J. M. J.; Barnard, P. J.: Localization of the Ccg1 gene on the mouse X chromosome. (Abstract) Cytogenet. Cell Genet. 51: 988, 1989.
[0025320]15908.Dikstein, R.; Ruppert, S.; Tjian, R.: TAFII250 is a bipartite protein kinase that phosphorylates the base transcription factor RAP74. Cell 84: 781-790, 1996.
[0025321]15909.Giles, R. E.; Ruddle, F. H.: X-linkage of a human genetic locus that corrects the DNA synthesis lesion in tsC1AGOH mouse cells. Genetics 93: 975-996, 1979.
[0025322]15910.Hisatake, K.; Hasegawa, S.; Takada, R.; Nakatani, Y.; Horikoshi, M.; Roeder, R. G.: The p250 subunit of native TATA box-binding factor TFIID is the cell-cycle regulatory protein CCG1. Nature 362: 179-181, 1993.
[0025323]15911.Jacobson, R. H.; Ladurner, A. G.; King, D. S.; Tjian, R.: Structure and function of a human TAFII250 double bromodomain module. Science 288: 1422-1425, 2000.
[0025324]15912.Jha, K. K.; Ozer, H. L.: Genetic studies with a mutant mouse cell, ts-2 Balb-3T3, with a temperature-sensitive defect in DNA synthesis. (Abstract) Genetics 86: s32-s33, 1977.
[0025325]15913.Jha, K. K.; Siniscalco, M.; Ozer, H. L.: Temperature-sensitive mutants of Balb-3T3 cells. III. Hybrids between ts2 and other mouse mutant cells affected in DNA synthesis and correction of ts2 defect by human X chromosome. Somat. Cell Genet. 6: 603-614, 1980.
[0025326]15914.Allen, F. H.; Krabbe, S. M. R.; Corcoran, P. A.: A new phenotype (McLeod) in the Kell blood-group system. Vox Sang. 6: 555-560, 1961.
[0025327]15915.Bertelson, C. J.; Pogo, A. O.; Chaudhuri, A.; Marsh, W. L.; Redman, C. M.; Banerjee, D.; Symmans, W. A.; Simon, T.; Frey, D.; Kunkel, L. M.: Localization of the McLeod locus (XK) within Xp21 by deletion analysis. Am. J. Hum. Genet. 42: 703-711, 1988.
[0025328]15916.Danek, A.; Rubio, J. P.; Rampoldi, L.; Ho, M.; Dobson-Stone, C.; Tison, F.; Symmans, W. A.; Oechsner, M.; Kalckreuth, W.; Watt, J. M.; Corbett, A. J.; Hamdalla, H. H. M.; Marshall, A. G.; Sutton, I.; Dotti, M. T.; Malandrini, A.; Walker, R. H.; Daniels, G.; Monaco, A. P.: McLeod neuroacanthocytosis: genotype and phenotype. Ann. Neurol. 50: 755-764, 2001.
[0025329]15917.Danek, A.; Witt, T. N.; Stockmann, H. B. A. C.; Weiss, B. J.; Schotland, D. L.; Fischbeck, K. H.: Normal dystrophin in McLeod myopathy. Ann. Neurol. 28: 720-722, 1990.
[0025330]15918.Densen, P.; Wilkinson-Kroovand, S.; Mandell, G. L.; Sullivan, G.; Oyen, R.; Marsh, W. L.: Kx: its relationship to chronic granulomatous disease and genetic linkage with Xg. Blood 58: 34-37, 1981.
[0025331]15919.de Saint-Basile, G.; Bohler, M. C.; Fischer, A.; Cartron, J.; Dufier, J. L.; Griscelli, C.; Orkin, S. H.: Xp21 DNA microdeletion in a patient with chronic granulomatous disease, retinitis pigmentosa, and McLeod phenotype. Hum. Genet. 80: 85-89, 1988.
[0025332]15920.Faillace, R. T.; Kingston, W. J.; Nanda, N. C.; Griggs, R. C.: Cardiomyopathy associated with the syndrome of amyotrophic chorea and acanthocytosis. Ann. Intern. Med. 96: 616-617, 1982.
[0025333]15921.Frey, D.; Machler, M.; Seger, R.; Schmid, W.; Orkin, S. H.: Gene deletion in a patient with chronic granulomatous disease and McLeod syndrome: fine mapping of the Xk gene locus. Blood 71: 252-255, 1988.
[0025334]15922.Giblett, E. R.; Klebanoff, S. J.; Pincus, S. H.; Swanson, J.; Park, B. H.; McCullough, J.: Kell phenotypes in chronic granulomatous disease: a potential transfusion hazard. Lancet I: 1235-1236, 1971.
[0025335]15923.Hanaoka, N.; Yoshida, K.; Nakamura, A.; Furihata, K.; Seo, T.; Tani, Y.; Takahashi, J.; Ikeda, S.; Hanyu, N.: A novel frameshift mutation in the McLeod syndrome gene in a Japanese family. J. Neurol. Sci. 165: 6-9, 1999.
[0025336]15924.Ho, M.; Chelly, J.; Carter, N.; Danek, A.; Crocker, P.; Monaco, A. P.: Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein. Cell 77: 869-880, 1994.
[0025337]15925.Almind, K.; Ahlgren, M. G.; Hansen, T.; Urhammer, S. A.; Clausen, J. O.; Pedersen, O.: Discovery of a Met300Val variant in Shc and studies of its relationship to birth weight and length, impaired insulin secretion, insulin resistance, and type 2 diabetes mellitus. J. Clin. Endocr. Metab. 84: 2241-2244, 1999.
[0025338]15926.Harun, R. B.; Smith, K. K.; Leek, J. P.; Markham, A. F.; Norris, A.; Morrison, J. F. J.: Characterization of human SHC p66 cDNA and its processed pseudogene mapping to Xq12-q13.1. Genomics 42: 349-352, 1997.
[0025339]15927.McGlade, J.; Cheng, A.; Pelicci, G.; Pelicci, P. G.; Pawson, T. : Shc proteins are phosphorylated and regulated by the v-src and v-fps protein-tyrosine-kinases. Proc. Nat. Acad. Sci. 89: 8869-8873, 1992.
[0025340]15928.Migliaccio, E.; Giorgio, M.; Mele, S.; Pelicci, G.; Reboldi, P.; Pandolfi, P. P.; Lanfrancone, L.; Pelicci, P. G.: The p66(shc) adaptor protein controls oxidative stress response and life span in mammals. Nature 402: 309-313, 1999.
[0025341]15929.Nemoto, S.; Finkel, T.: Redox regulation of forkhead proteins through a p66shcdependent signaling pathway. Science 295: 2450-2452, 2002.
[0025342]15930.Pelicci, G.; Lanfrancone, L.; Grignani, F.; McGlade, J.; Cavallo, F.; Forni, G.; Nicoletti, I.; Grignani, F.; Pawson, T.; Pelicci, P. G.: A novel transforming protein (SHC) with an SH2 domain is implicated in mitogenic signal transduction. Cell 70: 93-104, 1992.
[0025343]15931.Yulug, I. G.; Egan, S. E.; See, C. G.; Fisher, E. M. C.: A human SHC-related sequence maps to chromosome 17, the SHC gene maps to chromosome 1. Hum. Genet. 96: 245-248, 1995.
[0025344]15932.Zhang, L.; Camerini, V.; Bender, T. P.; Ravichandran, K. S.: A nonredundant role for the adapter protein Shc in thymic T cell development. Nature Immun. 3: 749-755, 2002.
[0025345]15933.Selig, S.; Bruno, S.; Scharf, J. M.; Wang, C. H.; Vitale, E.; Gilliam, T. C.; Kunkel, L. M.: Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene. Proc. Nat. Acad. Sci. 92: 3702-3706, 1995.
[0025346]15934.Thompson, T. G.; DiDonato, C. J.; Simard, L. R.; Ingraham, S. E.; Burghes, A. H. M.; Crawford, T. O.; Rochette, C.; Mendell, J. R.; Wasmuth, J. J.: A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients.. Nature Genet. 9: 56-62, 1995.
[0025347]15935.Abramovitz, M.; Boie, Y.; Nguyen, T.; Rushmore, T. H.; Bayne, M. A.; Metters, K. M.; Slipetz, D. M.; Grygorczyk, R.: Cloning and expression of a cDNA for the human prostanoid FP receptor. J. Biol. Chem. 269: 2632-2636, 1994.
[0025348]15936.Betz, R.; Lagercrantz, J.; Kedra, D.; Dumanski, J. P.; Nordenskjold, A.: Genomic structure, 5-prime flanking sequences, and precise localization in 1p31.1 of the human prostaglandin F receptor gene. Biochem. Biophys. Res. Commun. 254: 413-416, 1999.
[0025349]15937.Sugimoto, Y.; Yamasaki, A.; Segi, E.; Tsuboi, K.; Aze, Y.; Nishimura, T.; Oida, H.; Yoshida, N.; Tanaka, T.; Katsuyama, M.; Hasumoto, K.; Murata, T.; Hirata, M.; Ushikubi, F.; Negishi, M.; Ichikawa, A.; Narumiya, S.: Failure of parturition in mice lacking the prostaglandin F receptor. Science 277: 681-683, 1997.
[0025350]15938.Jean, L.; Smih, F.; Olivier, E.; Soury, E.; Simon-Chazottes, D.; Guenet, J. L.; Mattei, M. G.; Salier, J. P.: Comparative assignments of the genes of the inter-alpha-inhibitor family in human and mouse: ITIH4 is close to ITIH1 and ITIH3, on HSA 3 and MMU 14. Genomics 41: 139-140, 1997.
[0025351]15939.Nishimura, H.; Kakizaki, I.; Muta, T.; Sasaki, N.; Pu, P. X.; Yamashita, T.; Nagasawa, S.: cDNA and deduced amino acid sequence of human PK-120, a plasma kallikrein-sensitive glycoprotein. FEBS Lett. 357: 207-211, 1995.
[0025352]15940.Saguchi, K.; Tobe, T.; Hashimoto, K.; Sano, Y.; Nakano, Y.; Miura, N.-H.; Tomita, M.: Cloning and characterization of cDNA for inter-alpha-trypsin inhibitor family heavy chain-related protein (IHRP), a novel human plasma glycoprotein. J. Biochem. 117: 14-18, 1995.
[0025353]15941.Tobe, T.; Saguchi, K.; Hashimoto, K.; Miura, N.-H.; Tomita, M.; Li, F.; Wang, Y.; Minoshima, S.; Shimizu, N.: Mapping of human inter-alpha-trypsin inhibitor family heavy chain-related protein gene (ITIHL1) to human chromosome 3p21-p14. Cytogenet. Cell. Genet. 71: 296-298, 1995.
[0025354]15942.Geppert, M.; Khvotchev, M.; Krasnoperov, V.; Goda, Y.; Missler, M.; Hammer, R. E.; Ichtchenko, K.; Petrenko, A. G.; Sudhof, T. C. : Neurexin I-alpha is a major alpha-latrotoxin receptor that cooperates in alpha-latrotoxin action. J. Biol. Chem. 273: 1705-1710, 1998.
[0025355]15943.Ichtchenko, K.; Hata, Y.; Nguyen, T.; Ullrich, B.; Missler, M.; Moomaw, C.; Sudhof, T. C.: Neuroligin 1: a splice site-specific ligand for beta-neurexins. Cell 81: 435-443, 1995.
[0025356]15944.Kleiderlein, J. J.; Nisson, P. E.; Jessee, J.; Li, W.-B.; Becker, K. G.; Derby, M. L.; Ross, C. A.; Margolis, R. L.: CCG repeats in cDNAs from human brain. Hum. Genet. 103: 666-673, 1998. Note: Erratum: Hum. Genet. 104: 113 only, 1999.
[0025357]15945.Schoneberg, T.; Yun, J.; Wenkert, D.; Wess, J.: Functional rescue of mutant V2 vasopressin receptors causing nephrogenic diabetes insipidus by a co-expressed receptor polypeptide. EMBO J. 15: 1283-1291, 1996.
[0025358]15946.Aly, A. M.; Higuchi, M.; Kasper, C. K.; Kazazian, H. H., Jr.; Antonarakis, S. E.; Hoyer, L. W.: Hemophilia A due to mutations that create new N-glycosylation sites. Proc. Nat. Acad. Sci. 89: 4933-4937, 1992.
[0025359]15947.Greenberg, J. H.; Turner, C. G., II; Zegura, S. L.: The settlement of the Americas: a comparison of the linguistic, dental, and genetic evidence. Curr. Anthrop. 27: 477-497, 1986.
[0025360]15948.Margolis, R.: Personal Communication. Baltimore, Md. 3/29/2000.
[0025361]15949.Missler, M.; Sudhof, T. C.: Neurexins: three genes and 1001 products. Trends Genet. 14: 20-26, 1998.
[0025362]15950.Ikeshima, H.; Imai, S.; Shimoda, K.; Hata, J.; Takano, T.: Expression of a MADS box gene, MEF2D, in neurons of the mouse central nervous system: implication of its binary function in myogenic and neurogenic cell lineages. Neurosci. Lett. 200: 117-120, 1995.
[0025363]15951.Delhase, M.; Hayakawa, M.; Chen, Y.; Karin, M.: Positive and negative regulation of I-kappa-B kinase activity through IKK-beta subunit phosphorylation. Science 284: 309-312, 1999.
[0025364]15952.DiDonato, J. A.; Hayakawa, M.; Rothwarf, D. M.; Zandi, E.; Karin, M.: A cytokineresponsive IkappaB kinase that activates the transcription factor NF-kappaB. Nature 388: 548-554, 1997.
[0025365]15953.Mercurio, F.; Zhu, H.; Murray, B. W.; Shevchenko, A.; Bennett, B. L.; Li, J.; Young, D. B.; Barbosa, M.; Mann, M.; Manning, A.; Rao, A.: IKK-1 and IKK-2: cytokine-activated I-kappa-B kinases essential for NF-kappa-B activation. Science 278: 860-866, 1997.
[0025366]15954.Matsushima, A.; Kaisho, T.; Rennert, P. D.; Nakano, H.; Kurosawa, K.; Uchida, D.; Takeda, K.; Akira, S.; Matsumoto, M.: Essential role of nuclear factor (NF)-kappa-B-inducing kinase and inhibitor of kappa-B (I-kappa-B) kinase alpha in NF-kappa-B activation through lymphotoxin beta receptor, but not through tumor necrosis factor receptor I. J. Exp. Med. 193: 631-636, 2001.
[0025367]15955.Brzezinski, A.: Melatonin in humans. New Eng. J. Med. 336: 186-195, 1997.
[0025368]15956.Liu, R.-Y.; Zhou, J.-N.; van Heerikhuize, J.; Hofman, M. A.; Swaab, D. F.: Decreased melatonin levels in postmortem cerebrospinal fluid in relation to aging, Alzheimer's disease, and apolipoprotein E-epsilon-4/4 genotype. J. Clin. Endocr. Metab. 84: 323-327, 1999.
[0025369]15957.Nelson, C. S.; Ikeda, M.; Gompf, H. S.; Robinson, M. L.; Fuchs, N. K.; Yoshioka, T.; Neve, K. A.; Allen, C. N.: Regulation of melatonin 1a receptor signaling and trafficking by asparagine-124. Molec. Endocr. 15: 1306-1317, 2001.
[0025370]15958.Reppert, S. M.; Weaver, D. R.: Melatonin madness. Cell 83: 1059-1062, 1995.
[0025371]15959.Reppert, S. M.; Weaver, D. R.; Ebisawa, T.: Cloning and characterization of a mammalian melatonin receptor that mediates reproductive and circadian responses. Neuron 13: 1177-1185, 1994.
[0025372]15960.Deng, Z.; Centola, M.; Chen, X.; Sood, R.; Vedula, A.; Fischel-Ghodsian, N.; Kastner, D. L.: Identification of two Kruppel-related zinc finger genes (ZNF200 and ZNF210) from human chromosome 16p13.3. Genomics 53: 97-103, 1998.
[0025373]15961.Muller-Pillasch, F.; Zimmerhackl, F.; Lacher, U.; Schultz, N.; Hameister, H.; Varga, G.; Friess, H.; Buchler, M.; Adler, G.; Gress, T. M.: Cloning of novel transcripts of the human guaninenucleotide-exchange factor Mss4: in situ chromosomal mapping and expression in pancreatic cancer. Genomics 46: 389-396, 1997.
[0025374]15962.Yu, H.; Schreiber, S. L.: Cloning, Zn(2+) binding, and structural characterization of the guanine nucleotide exchange factor human Mss4. Biochemistry 34: 9103-9110, 1995.
[0025375]15963.Kordes, E.; Savelyeva, L.; Schwab, M.; Rommelaere, J.; Jauniaux, J.-C.; Cziepluch, C.: Isolation and characterization of human SGT and identification of homologues in Saccharomyces cerevisiae and Caenorhabditis elegans. Genomics 52: 90-94, 1998.
[0025376]15964.Yabe, D.; Nakamura, T.; Kanazawa, N.; Tashiro, K.; Honjo, T.: Calumenin, a Ca(2+)-binding protein retained in the endoplasmic reticulum with a novel carboxyl-terminal sequence, HDEF. J. Biol. Chem. 272: 18232-18239, 1997.
[0025377]15965.Yabe, D.; Taniwaki, M.; Nakamura, T.; Kanazawa, N.; Tashiro, K.; Honjo, T.: Human calumenin gene (CALU): cDNA isolation and chromosomal mapping to 7q32. Genomics 49: 331-333, 1998.
[0025378]15966.Angelin-Duclos, C.; Cattoretti, G.; Lin, K.-I.; Calame, K.: Commitment of B lymphocytes to a plasma cell fate is associated with Blimp-1 expression in vivo. J. Immun. 165: 5462-5471, 2000.
[0025379]15967.Chang, D. H.; Angelin-Duclos, C.; Calame, K.: BLIMP-1: trigger for differentiation of myeloid lineage. Nature Immun. 1: 169-176, 2000.
[0025380]15968.Huang, S.: Blimp-1 is the murine homolog of the human transcriptional repressor PRDI-BF1. (Letter) Cell 78: 9 only, 1994.
[0025381]15969.Keller, A. D.; Maniatis, T.: Identification and characterization of a novel repressor of beta-interferon gene expression. Genes Dev. 5: 868-879, 1991.
[0025382]15970.Mock, B. A.; Liu, L.; Le Paslier, D.; Huang, S.: The B-lymphocyte maturation promoting transcription factor BLIMP1/PRDI-BF1 maps to D6S447 on human chromosome 6q21-q22.1 and the syntenic region of mouse chromosome 10. Genomics 37: 24-28, 1996.
[0025383]15971.Ito, T.; Yang, M.; May, W. S.: RAX, a cellular activator for double-stranded RNAdependent protein kinase during stress signaling. J. Biol. Chem. 274: 15427-15432, 1999.
[0025384]15972.Patel, R. C.; Sen, G. C.: PACT, a protein activator of the interferon-induced protein kinase, PKR. EMBO J. 17: 4379-4390, 1998.
[0025385]15973.Scott, A. F.: Personal Communication. Baltimore, Md. 2001.
[0025386]15974.Shearman, L. P.; Zylka, M. J.; Weaver, D. R.; Kolakowski, L. F., Jr.; Reppert, S. M.: Two period homologs: circadian expression and photic regulation in the suprachiasmatic nuclei. Neuron 19: 1261-1269, 1997.
[0025387]15975.Toh, K. L.; Jones, C. R.; He, Y.; Eide, E. J.; Hinz, W. A.; Virshup, D. M.; Ptacek, L. J.; Fu, Y.-H.: An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome. Science 291: 1040-1043, 2001.
[0025388]15976.Engelender, S.; Wanner, T.; Kleiderlein, J. J.; Wakabayashi, K.; Tsuji, S.; Takahashi, H.; Ashworth, R.; Margolis, R. L.; Ross, C. A.: Organization of the human synphilin-1 gene, a candidate for Parkinson's disease. Mammalian Genome 11: 763-766, 2000.
[0025389]15977.Kitao, S.; Ohsugi, I.; Ichikawa, K.; Goto, M.; Furuichi, Y.; Shimamoto, A.: Cloning of two new human helicase genes of the RecQ family: biological significance of multiple species in higher eukaryotes. Genomics 54: 443-452, 1998.
[0025390]15978.Mohaghegh, P.; Hickson, I. D.: DNA helicase deficiencies associated with cancer predisposition and premature ageing disorders. Hum. Molec. Genet. 10: 741-746, 2001.
[0025391]15979.Chien, W.; Pei, L.: A novel binding factor facilitates nuclear translocation and transcriptional activation function of the pituitary tumor-transforming gene product. J. Biol. Chem. 275: 19422-19427, 2000.
[0025392]15980.Yaspo, M.-L.; Aaltonen, J.; Horelli-Kuitunen, N.; Peltonen, L.; Lehrach, H.: Cloning of a novel human putative type Ia integral membrane protein mapping to 21q22.3. Genomics 49: 133-136, 1998.
[0025393]15981.Yaspo, M.-L.; Gellen, L.; Mott, R.; Korn, B.; Nizetic, D.; Poustka, A. M.; Lehrach, H.: Model for a transcript map of human chromosome 21: isolation of new coding sequences from exon and enriched cDNA libraries. Hum. Molec. Genet. 4: 1291-1304, 1995.
[0025394]15982.Su, K.; Kyaw, H.; Fan, P.; Zeng, Z.; Shell, B. K.; Carter, K. C.; Li, Y.: Isolation, characterization, and mapping of two human potassium channels. Biochem. Biophys. Res. Commun. 241: 675-681, 1997.
[0025395]15983.Ghiso, J. A.; Holton, J.; Miravalle, L.; Calero, M.; Lashley, T.; Vidal, R.; Houlden, H.; Wood, N.; Neubert, T. A.; Rostagno, A.; Plant, G.; Revesz, T.; Frangione, B.: Systemic amyloid deposits in familial British dementia. J. Biol. Chem. 276: 43909-43914, 2001.
[0025396]15984.Stromgrem, E.; Dalby, A.; Dalby, M.; Ranheim, B. :Acta Neurol. Scand. 46 (suppl. 43): 97-98, 1970.
[0025397]15985.Gruber, A. D.; Schreur, K. D.; Ji, H.-L.; Fuller, C. M.; Pauli, B. U.: Molecular cloning and transmembrane structure of hCLCA2 from human lung, trachea, and mammary gland. Am. J. Physiol. 276: C1261-C1270, 1999.
[0025398]15986.Claustres, M.; Gerrard, B.; White, M. B.; Desgeorges, M.; Kjellberg, P.; Rollin, B.; Dean, M.: A new mutation (1078delT) in exon 7 of the CFTR gene in a southern French adult with cystic fibrosis. Genomics 13: 907-908, 1992.
[0025399]15987.Claustres, M.; Laussel, M.; Desgeorges, M.; Giansily, M.; Culard, J.-F.; Razakatsara, G.; Demaille, J.: Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in Southern France. Hum. Molec. Genet. 2: 1209-1213, 1993.
[0025400]15988.Costes, B.; Girodon, E.; Ghanem, N.; Flori, E.; Jardin, A.; Soufir, J. C.; Goossens, M.: Frequent occurrence of the CFTR intron 8 (TG)n 5T allele in men with congenital bilateral absence of the vas deferens. Europ. J. Hum. Genet. 3: 285-293, 1995.
[0025401]15989.Cromwell, O.; Walport, M. J.; Morris, H. R.; Taylor, G. W.; Hodson, M. E.; Batten, J.; Kay, A. B.: Identification of leukotrienes D and B in sputum from cystic fibrosis patients. Lancet II: 164-165, 1981.
[0025402]15990.Cuppens, H.; Lin, W.; Jaspers, M.; Costes, B.; Teng, H.; Vankeerberghen, A.; Jorissen, M.; Droogmans, G.; Reynaert, I.; Goossens, M.; Nilius, B.; Cassiman, J.-J.: Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes: the polymorphic (TG)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation. J. Clin. Invest. 101: 487-496, 1998.
[0025403]15991.Cuppens, H.; Marynen, P.; De Boeck, C.; De Baets, F.; Eggermont, E.; Van den Berghe, H.; Cassiman, J. J.: A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew. J. Med. Genet. 27: 717-719, 1990.
[0025404]15992.Cutting, G. R.; Kasch, L. M.; Rosenstein, B. J.; Tsui, L.-C.; Kazazian, H. H., Jr.; Antonarakis, S. E.: Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease. New Eng. J. Med. 323: 1685-1689, 1990.
[0025405]15993.Cutting, G. R.; Kasch, L. M.; Rosenstein, B. J.; Zielenski, J.; Tsui, L.-C.; Antonarakis, S. E.; Kazazian, H. H., Jr.: A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein. Nature 346: 366-369, 1990.
[0025406]15994.Daigneault, J.; Aubin, G.; Simard, F.; De Braekeleer, M.: Genetic epidemiology of cystic fibrosis in Saguenay-Lac-St-Jean (Quebec, Canada). Clin. Genet. 40: 298-303, 1991.
[0025407]15995.Dean, M.; White, M. B.; Amos, J.; Gerrard, B.; Stewart, C.; Khaw, K.-T.; Leppert, M.: Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients. Cell 61: 863-870, 1990.
[0025408]15996.Dean, M.; White, M. B.; Gerrard, B.; Amos, J.; Milunsky, A.: A 22-bp deletion in the coding region of the cystic fibrosis gene. Genomics 13: 235-236, 1992.
[0025409]15997.Delaney, S. J.; Alton, E. W. F. W.; Smith, S. N.; Lunn, D. P.; Farley, R.; Lovelock, P. K.; Thomson, S. A.; Hume, D. A.; Lamb, D.; Porteous, D. J.; Dorin, J. R.; Wainwright, B. J.: Cystic fibrosis mice carrying the missense mutation G551D replicate human genotype-phenotype correlations. EMBO J. 15: 955-963, 1996.
[0025410]15998.de Meeus, A.; Guittard, C.; Desgeorges, M.; Carles, S.; Demaille, J.; Claustres, M.: Linkage disequilibrium between the M470V variant and the IVS8 polyT alleles of the CFTR gene in CBAVD. J. Med. Genet. 35: 594-596, 1998.
[0025411]15999.Denning, G. M.; Anderson, M. P.; Amara, J. F.; Marshall, J.; Smith, A. E.; Welsh, M. J.: Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive. Nature 358: 761-764, 1992.
[0025412]16000.Devor, D. C.; Schultz, B. D.: Ibuprofen inhibits cystic fibrosis transmembrane conductance regulator-mediated CI(-) secretion. J. Clin. Invest. 102: 679-687, 1998.
[0025413]16001.Dickinson, P.; Smith, S. N.; Webb, S.; Kilanowski, F. M.; Campbell, I. J.; Taylor, M. S.; Porteous, D. J.; Willemsen, R.; de Jonge, H. R.; Farley, R.; Alton, E. W. F. W.; Dorin, J. R.: The severe G480C cystic fibrosis mutation, when replicated in the mouse, demonstrates mistrafficking, normal survival and organ-specific bioelectrics. Hum. Molec. Genet. 11: 243-251, 2002.
[0025414]16002.Nicolino, P. M.; Dupin, H.; Macebeo, V.; Treppoz, S.; Chatelain, P. G.; Wolcott-Rallison syndrome (diabetes mellitus and spondyloepiphyseal dysplasia): a plausible existence of a gene(s) important for the mutation of neonatal pancreatic beta cell function. (Abstract) Hormone Res. 50 (suppl. 3): 77 only, 1998.
[0025415]16003.Shi, Y.; An, J.; Liang, J.; Hayes, S. E.; Sandusky, G. E.; Stramm, L. E.; Yang, N. N.: Characterization of a mutant pancreatic eIF-2-alpha kinase, PEK, and co-localization with somatostatin in islet delta cells. J. Biol. Chem. 274: 5723-5730, 1999.
[0025416]16004.Shi, Y.; Vattem, K. M.; Sood, R.; An, J.; Liang, J.; Stramm, L.; Wek, R. C.: Identification and characterization of pancreatic eukaryotic initiation factor 2 alpha-subunit kinase, PEK, involved in translational control. Molec. Cell. Biol. 18: 7499-7509, 1998.
[0025417]16005.Csoka, A. B.; Scherer, S. W.; Stern, R.: Expression analysis of six paralogous human hyaluronidase genes clustered on chromosomes 3p21 and 7q31. Genomics 60: 356-361, 1999.
[0025418]16006.Dolganov, G. M.; Maser, R. S.; Novikov, A.; Tosto, L.; Chong, S.; Bressan, D. A.; Petrini, J. H. J.: Human Rad50 is physically associated with human Mre11: identification of a conserved multiprotein complex implicated in recombinational DNA repair. Molec. Cell Biol. 16: 4832-4841, 1996.
[0025419]16007.Hopfner, K.-P.; Craig, L.; Moncalian, G.; Zinkel, R. A.; Usui, T.; Owen, B. A. L.; Karcher, A.; Henderson, B.; Bodmer, J.-L.; McMurray, C. T.; Carney, J. P.; Petrini, J. H. J.; Tainer, J. A.: The Rad50 zinc-hook is a structure joining Mre11 complexes in DNA recombination and repair. Nature 418: 562-566, 2002.
[0025420]16008.Luo, G.; Yao, M. S.; Bender, C. F.; Mills, M.; Bladl, A. R.; Bradley, A.; Petrini, J. H. J.: Disruption of mRad50 causes embryonic stem cell lethality, abnormal embryonic development, and sensitivity to ionizing radiation. Proc. Nat. Acad. Sci. 96: 7376-7381, 1999.
[0025421]16009.Trujillo, K. M.; Yuan, S.-S. F.; Lee, E. Y.-H. P.; Sung, P.: Nuclease activities in a complex of human recombination and DNA repair factors Rad50, Mre11, and p95. J. Biol. Chem. 273: 21447-21450, 1998.
[0025422]16010.Clark, J.; Lu, Y. J.; Sidhar, S. K.; Parker, C.; Gill, S.; Smedley, D.; Hamoudi, R.; Linehan, W.; Shipley, J.; Cooper, C.: Fusion of splicing factor genes PSF and NonO (p54nrb) to the TFE3 gene in papillary renal cell carcinoma. Oncogene 15: 2233-2239, 1997.
[0025423]16011.Heimann, P.; El Housni, H.; Ogur, G.; Weterman, M. A. J.; Petty, E. M.; Vassart, G.: Fusion of a novel gene, RCC17, to the TFE3 gene in t(X;17)(p11.2;q25.3)-bearing papillary renal cell carcinomas. Cancer Res. 61: 4130-4135, 2001.
[0025424]16012.Henthorn, P. S.; Stewart, C. C.; Kadesch, T.; Puck, J. M.: The gene encoding human TFE3, a transcription factor that binds the immunoglobulin heavy-chain enhancer, maps to Xp11.22. Genomics 11: 374-378, 1991.
[0025425]16013.Joyama, S.; Ueda, T.; Shimizu, K.; Kudawara, I.; Mano, M.; Funai, H.; Takemura, K.; Yoshikawa, H.: Chromosome rearrangement at 17q25 and Xp11.2 in alveolar soft-part sarcoma: a case report and review of the literature. Cancer 86: 1246-1250, 1999.
[0025426]16014.Ladanyi, M.; Lui, M. Y.; Antonescu, C. R.; Krause-Boehm, A.; Meindl, A.; Argani, P.; Healey, J. H.; Ueda, T.; Yoshikawa, H.; Meloni-Ehrig, A.; Sorensen, P. H. B.; Mertens, F.; Mandahl, N.; van den Berghe, H.; Sciot, R.; Dal Cin, P.; Bridge, J.: The der(17)t(X;17)(p11;q25) of human alveolar soft part sarcoma fuses the TFE3 transcription factor gene to ASPL, a novel gene at 17q25. Oncogene 20: 48-57, 2001.
[0025427]16015.Macchi, P.; Notarangelo, L.; Giliani, S.; Strina, D.; Repetto, M.; Sacco, M. G.; Vezzoni, P.; Villa, A.: The genomic organization of the human transcription factor 3 (TFE3) gene. Genomics 28: 491-494, 1995.
[0025428]16016.Shipley, J. M.; Birdsall, S.; Clark, J.; Crew, J.; Gill, S.; Linehan, M.; Gnarra, J.; Gisher, S.; Craig, I. W.; Cooper, C. S.: Mapping the X chromosome breakpoint in two papillary renal cell carcinoma cell lines with a t(X;1)(p11.2;q21.2) and the first report of a female case. Cytogenet. Cell. Genet. 71: 280-284, 1995.
[0025429]16017.Sidhar, S. K.; Clark. J.; Gill, S.; Hamoudi, R.; Crew, A. J.; Gwilliam, R.; Ross, M.; Linehan, W. M.; Birdsall, S.; Shipley, J.; Cooper, C. S.: The t(X;1)(p11.2;q21.2) translocation in papillary renal cell carcinoma fuses a novel gene PRCC to the TFE3 transcription factor gene. Hum. Molec. Genet. 5: 1333-1338, 1996.
[0025430]16018.Larola, G.; Cuesta, R.; Brewer, G.; Schneider, R. J.: Control of mRNA decay by heat shock-ubiquitin-proteasome pathway. Science 284: 499-502, 1999.
[0025431]16019.Deutsch, D.; Palmon, A.; Dafni, L.; Fisher, L.; Termine, J. D.; Young, M.: Cloning, sequencing, and characterization of tuftelin: a novel acidic enamel protein. Connect. Tissue Res. 27: 121 only, 1992.
[0025432]16020.Genomics 44: 248-250, 1997.
[0025433]16021.Deiss, L. P.; Feinstein, E.; Berissi, H.; Cohen, O.; Kimchi, A. : Identification of a novel serine/threonine kinase and a novel 15-kD protein as potential mediators of the gamma interferon-induced cell death. Genes Dev. 9: 15-30, 1995.
[0025434]16022.Feinstein, E.; Druck, T.; Kastury, K.; Berissi, H.; Goodart, S. A.; Overhauser, J.; Kimchi, A.; Huebner, K.: Assignment of DAP1 and DAPK: genes that positively mediate programmed cell death triggered by IFN-gamma--to chromosome regions 5p12.2 (sic) and 9q34.1, respectively. Genomics 29: 305-307, 1995.
[0025435]16023.Raveh, T.; Droguett, G.; Horwitz, M. S.; DePinho, R. A.; Kimchi, A.: DAP kinase activates a p19-ARF/p53-mediated apoptotic checkpoint to suppress oncogenic transformation. Nature Cell Biol. 3: 1-7, 2001.
[0025436]16024.Simpson, D. J.; Clayton, R. N.; Farrell, W. E.: Preferential loss of death associated protein kinase expression in invasive pituitary tumours is associated with either CpG island methylation or homozygous deletion. Oncogene 21: 1217-1224, 2002.
[0025437]16025.Hughes, K. A.; Hurlstone, A. F. L.; Tobias, E. S.; McFarlane, R.; Black, D. M.: Absence of ST7 mutations in tumor-derived cell lines and tumors. Nature Genet. 29: 380-381, 2001.
[0025438]16026.Thomas, N. A.; Choong, D. Y. H.; Jokubaitis, V. J.; Neville, P. J.; Campbell, I. G.: Mutation of the ST7 tumor suppressor gene on 7q31.1 is rare in breast, ovarian and colorectal cancers. Nature Genet. 29: 379-380, 2001.
[0025439]16027.Zenklusen, J. C.; Conti, C. J.; Green, E. D.: Mutational and functional analyses reveal that ST7 is a highly conserved tumor-suppressor gene on human chromosome 7q31. Nature Genet. 27: 392-398, 2001.
[0025440]16028.Zenklusen, J. C.; Rodriguez, L. V.; LaCava, M.; Wang, Z.; Goldstein, L. S.; Conti, C. J.: Novel susceptibility locus for mouse hepatomas: evidence for a conserved tumor suppressor gene. Genome Res. 6: 1070-1076, 1996.
[0025441]16029.Zenklusen, J. C.; Weitzel, J. N.; Ball, H. G.; Conti, C. J.: Allelic loss at 7q31.1 in human primary ovarian carcinomas suggests the existence of a tumor suppressor gene. Oncogene 11: 359-363, 1995.
[0025442]16030.Lee, P. L.; Gelbart, T.; West, C.; Adams, M.; Blackstone, R.; Beutler, E.: Three genes encoding zinc finger proteins on human chromosome 6p21.3: members of a new subclass of the Kruppel gene family containing the conserved SCAN box domain. Genomics 43: 191-201, 1997.
[0025443]16031.Deutsch, D.; Palmon, A.; Fisher, L. W.; Kolodny, N.; Termine, J. D.; Young, M. F.: Sequencing of bovine enamelin (tuftelin), a novel acidic enamel protein. J. Biol. Chem. 266: 16021-16028, 1991.
[0025444]16032.Deutsch, D.; Palmon, A.; Young, M. F.; Selig, S.; Kearns, W. G.; Fisher, L. W.: Mapping of the human tuftelin (TUFT1) gene to chromosome 1 by fluorescence in situ hybridization. (Abstract) Mammalian Genome 5: 461-462, 1994.
[0025445]16033.MacDougall, M.; Simmons, D.; Dodds, A.; Knight, C.; Luan, X.; Zeichner-David, M.; Zhang, C.; Ryu, O. H.; Qian, Q.; Simmer, J. P.; Hu, C.-C.: Cloning, characterization, and tissue expression pattern of mouse tuftelin cDNA. J. Dent. Res. 77: 1970-1978, 1998.
[0025446]16034.Fujii, H.; Kanno, H.; Hirono, A.; Shiomura, T.; Miwa, S.: A single amino acid substitution (157gly-to-val) in a phosphoglycerate kinase variant (PGK Shizuoka) associated with chronic hemolysis and myoglobinuria. Blood 79: 1582-1585, 1992.
[0025447]16035.Fujii, H.; Krietsch, W. K. G.; Yoshida, A.: A single amino acid substitution (asp-toasn) in a phosphoglycerate kinase variant (PGK Munchen) associated with enzyme deficiency. J. Biol. Chem. 255: 6421-6423, 1980.
[0025448]16036.Fujii, H.; Yoshida, A.: Molecular abnormality of phosphoglycerate kinase-Uppsala associated with chronic nonspherocytic hemolytic anemia. Proc. Nat. Acad. Sci. 77: 5461-5465, 1980.
[0025449]16037.Gellin, J.; Benne, F.; Renard, C.; Vaiman, M.; Hors-Cayla, M. C.; Gillois, M.: Pig gene mapping: synteny, attempt to assign the histocompatibility complex (SLA). (Abstract) Cytogenet. Cell Genet. 25: 159, 1979.
[0025450]16038.Grzeschik, K.-H.; Allderdice, P. W.; Grzeschik, A.; Opitz, J. M.; Miller, O. J.; Siniscalco, M.: Cytological mapping of human X-linked genes by use of somatic cell hybrids involving an X-autosome translocation. Proc. Nat. Acad. Sci. 69: 69-73, 1972.
[0025451]16039.Guis, M. S.; Karadsheh, N.; Mentzer, W. C.: Phosphoglycerate kinase San Francisco: a new variant associated with hemolytic anemia but not with neuromuscular manifestations. Am. J. Hemat. 25: 175-182, 1987.
[0025452]16040.Huijing, F.; Eicher, E. M.; Coleman, D. L.: Location of phosphorylase kinase (Phk) in the mouse X-chromosome. Biochem. Genet. 9: 193-196, 1973.
[0025453]16041.Hutz, M. H.; Michelson, A. M.; Antonarakis, S. E.; Orkin, S. H.; Kazazian, H. H., Jr.: Restriction site polymorphism in the phosphoglycerate kinase gene on the X chromosome. Hum. Genet. 66: 217-219, 1984.
[0025454]16042.Konrad, P. N. J.; McCarthy, D. J.; Mauer, A. M.; Valentine, W. N.; Paglia, D. E.: Erythrocyte and leukocyte phosphoglycerate kinase deficiency with neurologic disease. J. Pediat. 82: 456-460, 1973.
[0025455]16043.Kozak, L. P.; McLean, G. K.; Eicher, E. M.: X-linkage of phosphoglycerate kinase in the mouse. Biochem. Genet. 2: 41-47, 1974.
[0025456]16044.Kraus, A. P.; Langston, M. F., Jr.; Lynch, B. L.: Red cell phosphoglycerate kinase deficiency: a new cause of non-spherocytic hemolytic anemia. Biochem. Biophys. Res. Commun. 30: 173-177, 1968.
[0025457]16045.Krietsch, W. K.; Krietsch, H.; Kaiser, W.; Dunnwald, M.; Kuntz, G. W.; Duhn, J.; Bucher, T.: Hereditary deficiency of phosphoglycerate kinase: a new variant in erythrocytes and leucocytes, not associated with hemolytic anemia. Europ. J. Clin. Invest. 7: 427-435, 1977.
[0025458]16046.Krietsch, W. K. G.; Eber, S. W.; Haas, B.; Rubbelt, W.; Kuntz, G. W. K.: Characterization of a phosphoglycerate kinase deficiency variant not associated with hemolytic anemia. Am. J. Hum. Genet. 32: 364-373, 1980.
[0025459]16047.Lay, A. J.; Jiang, X.-M.; Kisker, O.; Flynn, E.; Underwood, A.; Condron, R.; Hogg, P. J.: Phosphoglycerate kinase acts in tumour angiogenesis as a disulphide reductase. Nature 408: 869-873, 2000.
[0025460]16048.Maeda, M.; Bawle, E. V.; Kulkarni, R.; Beutler, E.; Yoshida, A. : Molecular abnormalities of a phosphoglycerate kinase variant generated by spontaneous mutation. Blood 79: 2759-2762, 1992.
[0025461]16049.Maeda, M.; Yoshida, A.: Molecular defect of a phosphoglycerate kinase variant (PGKMatsue) associated with hemolytic anemia: leu-to-pro substitution caused by T/A-to-C/G transition in exon 3. Blood 77: 1348-1352, 1991.
[0025462]16050.Meera Khan, P.; Westerveld, A.; Grzeschik, K.-H.; Deys, B. F.; Garson, O. M.; Siniscalco, M.: X-linkage of human phosphoglycerate kinase confirmed in man-mouse and man-Chinese hamster somatic cell hybrids. Am. J. Hum. Genet. 23: 614-623, 1971.
[0025463]16051.Michelson, A. M.; Blake, C. C. F.; Evans, S. T.; Orkin, S. H. : Structure of the human phosphoglycerate kinase gene and the intron-mediated evolution and dispersal of the nucleotide-binding domain. Proc. Nat. Acad. Sci. 82: 6965-6969, 1985.
[0025464]16052.Michelson, A. M.; Markham, A. F.; Orkin, S. H.: Isolation and DNA sequence of a full-length cDNA clone for human X chromosome-encoded phosphoglycerate kinase. Proc. Nat. Acad. Sci. 80: 472-476, 1983.
[0025465]16053.Miwa, S.; Nakawhima, K.; Oda, S.; Ogawa, H.; Nagafuji, H.; Arima, M.; Okuna, T.; Nakashima, T.: Phosphoglycerate kinase deficiency hereditary nonspherocytic hemolytic anemia: report of a case found in a Japanese family. Acta Haemat. Jpn. 35: 571-574, 1972.
[0025466]16054.Ricciuti, F. C.; Ruddle, F. H.: Assignment of three gene loci (PGK, HGPRT, and G6PD) to the long arm of the human X-chromosome by somatic cell genetics. Genetics 74: 661-678, 1973.
[0025467]16055.Rosa, R.; George, C.; Fardeau, M.; Calvin, M. C.; Rapin, M.; Rosa, J.: A new case of phosphoglycerate kinase deficiency: PGK Creteil associated with rhabdomyolysis and lacking hemolytic anemia. Blood 60: 84-91, 1982.
[0025468]16056.Saidi, N.; Hors-Cayla, M. C.; Van Cong, N.; Benne, F.: Sheep gene mapping by somatic cell hybridization. (Abstract) Cytogenet. Cell Genet. 25: 200, 1979.
[0025469]16057.Schwab, A. J.; Krietsch, W. K. G.: Linkage between phosphoglycerate kinase and Xg in a large German kindred. Hum. Genet. 38: 217-221, 1977.
[0025470]16058.Shows, T. B.; Brown, J. A.: Human X-linked genes regionally mapped utilizing Xautosome translocations and somatic cell hybrids. Proc. Nat. Acad. Sci. 72: 2125-2129, 1975.
[0025471]16059.Sugie, H.; Sugie, Y.; Ito, M.; Fukuda, T.: A novel missense mutation (837T-C) in the phosphoglycerate kinase gene of a patient with a myopathic form of phosphoglycerate kinase deficiency. J. Child Neurol. 13: 95-97, 1998.
[0025472]16060.Buj-Bello, A.; Biancalana, V.; Moutou, C.; Laporte, J.; Mandel, J.-L.: Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy. Hum. Mutat. 14: 320-325, 1999.
[0025473]16061.Cui, X.; De Vivo, I.; Slany, R.; Miyamoto, A.; Firestein, R.; Cleary, M. L.: Association of SET domain and myotubularin-related proteins modulates growth control. Nature Genet. 18: 331-337, 1998.
[0025474]16062.Dickeson, S. K.; Helmkamp, G. M., Jr.; Yarbrough, L. R.: Sequence of a human cDNA encoding phosphatidylinositol transfer protein and occurrence of a related sequence in widely divergent eukaryotes. Gene 142: 301-305, 1994.
[0025475]16063.Dickeson, S. K.; Lim, C. N.; Schuyler, G. T.; Dalton, T. P.; Helmkamp, G. M., Jr.; Yarbrough, L. R.: Isolation and sequence of cDNA clones encoding rat phosphatidylinositol transfer protein. J. Biol. Chem. 264: 16557-16564, 1989.
[0025476]16064.Hay, J. C.; Martin, T. F. J.: Phosphatidylinositol transfer protein required for ATPdependent priming of Ca(2+)-activated secretion. Nature 366: 572-575, 1993.
[0025477]16065.Vihtelic, T. S.; Goebl, M.; Milligan, S.; O'Tousa, J. E.; Hyde, D. R.: Localization of Drosophila retinal degeneration B, a membrane-associated phosphatidylinositol transfer protein. J. Cell Biol. 122: 1013-1022, 1993.
[0025478]16066.Wirtz, K. W. A.: Phospholipid transfer proteins. Annu. Rev. Biochem. 60: 73-99, 1991.
[0025479]16067.Fitzgibbon, J.; Pilz, A.; Gayther, S.; Appukuttan, B.; Dulai, K. S.; Delhanty, J. D. A.; Helmkamp, G. M., Jr.; Yarbrough, L. R.; Hunt, D. M.: Localization of the gene encoding human phosphatidylinositol transfer protein (PITPN) to 17p13.3: a gene showing homology to the Drosophila retinal degeneration B gene (rdgB). Cytogenet. Cell Genet. 67: 205-207, 1994.
[0025480]16068.Hamilton, B. A.; Smith, D. J.; Mueller, K. L.; Kerrebrock, A. W.; Bronson, R. T.; van Berkel, V.; Daly, M. J.; Kruglyak, L.; Reeve, M. P.; Nemhauser, J. L.; Hawkins, T. L.; Rubin, E. M.; Lander, E. S.: The vibrator mutation causes neurodegeneration via reduced expression of PITP-alpha: positional complementation cloning and extragenic suppression. Neuron 18: 711-722, 1997.
[0025481]16069.Ishida, N.; Miura, N.; Yoshioka, S.; Kawakita, M.: Molecular cloning and characterization of a novel isoform of the human UDP-galactose transporter, and of related complementary DNAs belonging to the nucleotide-sugar transporter gene family. J. Biochem. 120: 1074-1078, 1996.
[0025482]16070.Sugie, H.; Sugie, Y.; Nishida, M.; Ito, M.; Tsurui, S.; Suzuki, M.; Miyamoto, R.; Igarashi, Y.: Recurrent myoglobinuria in a child with mental retardation: phosphoglycerate kinase deficiency. J. Child Neurol. 4: 95-99, 1989.
[0025483]16071.Sugie, H.; Sugie, Y.; Tsurui, S.; Ito, M.: Phosphoglycerate kinase deficiency. (Letter) Neurology 44: 1364-1365, 1994.
[0025484]16072.Tani, K.; Takizawa, T.; Yoshida, A.: Normal mRNA content in a phosphoglycerate kinase variant with severe enzyme deficiency. Am. J. Hum. Genet. 37: 931-937, 1985.
[0025485]16073.Tonin, P.; Shanske, S.; Miranda, A. F.; Brownell, A. K.; Wyse, J. P.; Tsujino, S.; Di Mauro, S.: Phosphoglycerate kinase deficiency: biochemical and molecular genetic studies in a new myopathic variant. Neurology 43: 387-391, 1993.
[0025486]16074.Valentin, C.; Birgens, H.; Craescu, C. T.; Brodum-Nielsen, K.; Cohen-Solal, M.: A phosphoglycerate kinase mutant (PGK Herlev; D285V) in a Danish patient with isolated chronic hemolytic anemia: mechanism of mutation and structure-function relationships. Hum. Mutat. 12: 280-287, 1998.
[0025487]16075.Valentine, W. N.; Hsieh, H.-S.; Paglia, D. E.; Anderson, H. M.; Baughan, M. A.; Jaffe, E. R.; Garson, O. M.: Hereditary hemolytic anemia associated with phosphoglycerate kinase deficiency in erythrocytes and leukocytes: a probable X-chromosome-linked syndrome. New Eng. J. Med. 280: 528-534, 1969.
[0025488]16076.Yoshida, A.; Miwa, S.: Characterization of a phosphoglycerate kinase variant associated with hemolytic anemia. Am. J. Hum. Genet. 26: 378-384, 1974.
[0025489]16077.Yoshida, A.; Twele, T. W.; Dave, V.; Beutler, E.: Molecular abnormality of a phosphoglycerate kinase variant (PGK-Alabama). Blood Cells Mol. Dis. 21: 179-181, 1995.
[0025490]16078.Yoshida, A.; Watanabe, S.; Chen, S.-H.; Giblett, E. R.; Malcolm, L. A.: Human phosphoglycerate kinase II: structure of a variant enzyme. J. Biol. Chem. 247: 446-449, 1972.
[0025491]16079.Becker, M. A.; Kostel, P. J.; Meyer, L. J.; Seegmiller, J. E.: Human phosphoribosylpyrophosphate synthetase: increased enzyme specific activity in a family with gout and excessive purine synthesis. Proc. Nat. Acad. Sci. 70: 2749-2752, 1973.
[0025492]16080.Becker, M. A.; Losman, M. J.; Rosenberg, A. L.; Mehlman, I.; Levinson, D. J.; Holmes, E. W.: Phosphoribosylpyrophosphate synthetase superactivity: a study of five patients with catalytic defects in the enzyme. Arthritis Rheum. 29: 880-888, 1986.
[0025493]16081.Becker, M. A.; Losman, M. J.; Wilson, J.; Simmonds, H. A.: Superactivity of human phosphoribosyl pyrophosphate synthetase due to altered regulation by nucleotide inhibitors and inorganic phosphate. Biochim. Biophys. Acta 882: 168-176, 1986.
[0025494]16082.Becker, M. A.; Meyer, L. J.; Seegmiller, J. E.: Gout with purine overproduction due to increased phosphoribosylphosphate synthetase activity. Am. J. Med. 55: 232-242, 1973.
[0025495]16083.Becker, M. A.; Meyer, L. J.; Wood, A. W.; Seegmiller, J. E.: Purine overproduction in man associated with increased phosphoribosylpyrophosphate synthetase activity. Science 179: 1123-1126, 1973.
[0025496]16084.Becker, M. A.; Puig, J. G.; Mateos, F. A.; Jimenez, M. L.; Kim, M.; Simmonds, H. A.: Inherited superactivity of phosphoribosylpyrophosphate synthetase: association of uric acid overproduction and sensorineural deafness. Am. J. Med. 85: 383-390, 1988.
[0025497]16085.Becker, M. A.; Raivio, K. O.; Bakay, B.; Adams, W. B.; Nyhan, W. L.: Variant human phosphoribosylpyrophosphate synthetase altered in regulatory and catalytic functions. J. Clin. Invest. 65: 109-120, 1980.
[0025498]16086.Becker, M. A.; Smith, P. R.; Taylor, W.; Mustafi, R.; Switzer, R. L.: The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity. J. Clin. Invest. 96: 2133-2141, 1995.
[0025499]16087.Becker, M. A.; Taylor, W.; Smith, P. R.; Ahmed, M.: Overexpression of the normal phosphoribosylpyrophosphate synthetase 1 isoform underlies catalytic superactivity of human phosphoribosylpyrophosphate synthetase. J. Biol. Chem. 271: 19894-19899, 1996.
[0025500]16088.Becker, M. A.; Yen, R. C. K.; Goss, S. J.; Seegmiller, J. E.; Itkin, P.; Lazar, C.; Adams, W. B.: Localization of the structural gene for human phosphoribosylpyrophosphate synthetase on the Xchromosome. (Abstract) Clin. Res. 26: 500A, 1978.
[0025501]16089.Becker, M. A.; Yen, R. C. K.; Itkin, P.; Goss, S. J.; Seegmiller, J. E.; Bakay, B.: Regional localization of the gene for human phosphoribosylpyrophosphate synthetase on the Xchromosome. Science 203: 1016-1019, 1979.
[0025502]16090.Christen, H.-J.; Hanefeld, F.; Duley, J. A.; Simmonds, H. A.: Distinct neurological syndrome in two brothers with hyperuricaemia. (Letter) Lancet 340: 1167-1168, 1992.
[0025503]16091.De Vries, A.; Sperling, O.: Familial gouty malignant uric acid lithiasis due to mutant phosphoribosylpyrophosphatase synthetase. Der Urologe 12: 153-157, 1973.
[0025504]16092.Iinuma, K.; Wada, Y.; Onuma, A.; Tanabu, M.: Electroencephalographic study of an infant with phosphoribosylpyrophosphate synthetase deficiency. Tohoku J. Exp. Med. 116: 53-55, 1975.
[0025505]16093.Lebo, R. V.; Martin, D. W., Jr.: Electrophoretic heterogeneity of 5-phosphoribosyl-1-pyrophosphate synthetase within and among humans. Biochem. Genet. 16: 905-916, 1978.
[0025506]16094.Nyhan, W. L.; James, J. A.; Teberg, A. J.; Sweetman, L.; Nelson, L. G.: A new disorder of purine metabolism with behavioral manifestations. J. Pediat. 74: 20-27, 1969.
[0025507]16095.Riccardi, V. M.: Personal Communication. Denver, Colo. 1974.
[0025508]16096.Roessler, B. J.; Bell, G.; Heidler, S.; Seino, S.; Becker, M.; Palella, T. D.: Cloning of two distinct copies of human phosphoribosylpyrophosphate synthetase cDNA. Nucleic Acids Res. 18: 193 only, 1990.
[0025509]16097.Roessler, B. J.; Nosal, J. M.; Smith, P. R.; Heidler, S. A.; Palella, T. D.; Switzer, R. L.; Becker, M. A.: Human X-linked phosphoribosylpyrophosphate synthetase superactivity is associated with distinct point mutations in the PRPS1 gene. J. Biol. Chem. 268: 26476-26481, 1993.
[0025510]16098.Lund, A.; Udd, B.; Juvonen, V.; Andersen, P. M.; Cederquist, K.; Davis, M.; Gellera, C.; Kolmel, C.; Ronnevi, L.-O.; Sperfeld, A.-D.; Sorensen, S.-A.; Tranebjaerg, L.; Van Maldergem, L.; Watanabe, M.; Weber, M.; Yeung, L.; Savontaus, M.-L.: Multiple founder effects in spinal and bulbar muscular atrophy (SBMA, Kennedy disease) around the world. Europ. J. Hum. Genet. 9: 431-436, 2001.
[0025511]16099.Edelhoff, S.; Ayer, D. E.; Zervos, A. S.; Steingrimsson, E.; Jenkins, N. A.; Copeland, N. G.; Eisenman, R. N.; Brent, R.; Disteche, C. M. : Mapping of two genes encoding members of a distinct subfamily of MAX interacting proteins: MAD to human chromosome 2 and mouse chromosome 6, and MXI1 to chromosome 10 and mouse chromosome 19. Oncogene 9: 665-668, 1994.
[0025512]16100.Ferguson, G. D.; Anagnostaras, S. G.; Silva, A. J.; Herschman, H. R.: Deficits in memory and motor performance in synaptotagmin IV mutant mice. Proc. Nat. Acad. Sci. 97: 5598-5603, 2000.
[0025513]16101.Ferguson, G. D.; Chen, X.-N.; Korenberg, J. R.; Herschman, H. R. : The human synaptotagmin IV gene defines an evolutionary break point between syntenic mouse and human chromosome regions but retains ligand inducibility and tissue specificity. J. Biol. Chem. 275: 36920-36926, 2000.
[0025514]16102.Holterhus, P.-M.; Wiebel, J.; Sinnecker, G. H. G.; Bruggenwirth, H. T.; Sippell, W. G.; Brinkmann, A. O.; Kruse, K.; Hiort, O.: Clinical and molecular spectrum of somatic mosaicism in androgen insensitivity syndrome. Pediat. Res. 46: 684-690, 1999.
[0025515]16103.Foresta, C.; Bertella, A.; Moro, E.; Roverato, A.; Merico, M.; Ferlin, A.: Sertoli cell function in infertile patients with and without microdeletions of the azoospermia factors on the Y chromosome long arm. J. Clin. Endocr. Metab. 86: 2414-2419, 2001.
[0025516]16104.Kobayashi, K.; Mizuno, K.; Hida, A.; Komaki, R.; Tomita, K.; Matsushita, I.; Namiki, M.; Iwamoto, T.; Tamura, S.; Minowada, S.; Nakahori, Y.; Nakagome, Y.: PCR analysis of the Y chromosome long arm in azoospermic patients: evidence for a second locus required for spermatogenesis. Hum. Molec. Genet. 3: 1965-1967, 1994.
[0025517]16105.Agulnik, A. I.; Zharkikh, A.; Boettger-Tong, H.; Bourgeron, T.; McElreavey, K.; Bishop, C. E.: Evolution of the DAZ gene family suggests that Y-linked DAZ plays little, or a limited, role in spermatogenesis but underlines a recent African origin for human populations. Hum. Molec. Genet. 7: 1371-1377, 1998.
[0025518]16106.Anonymous: A missing piece on the Y. (Editorial) Nature Genet. 10: 367-368, 1995.
[0025519]16107.Cooke, H. J.; Lee, M.; Kerr, S.; Ruggiu, M.: A murine homologue of the human DAZ gene is autosomal and expressed only in male and female gonads. Hum. Molec. Genet. 5: 513-516, 1996.
[0025520]16108.Foresta, C.; Moro, E.; Garolla, A.; Onisto, M.; Ferlin, A.: Y chromosome microdeletions in cryptorchidism and idiopathic infertility. J. Clin. Endocr. Metab. 84: 3660-3665, 1999.
[0025521]16109.Makova, K. D.; Li, W.-H.: Strong male-driven evolution of DNA sequences in humans and apes. Nature 416: 624-626, 2002.
[0025522]16110.Menke, D. B.; Mutter, G. L.; Page, D. C.: Expression of DAZ, an azoospermia factor candidate, in human spermatogonia. (Letter) Am. J. Hum. Genet. 60: 237-241, 1997.
[0025523]16111.Moro, E.; Ferlin, A.; Yen, P. H.; Franchi, P. G.; Palka, G.; Foresta, C.: Male infertility caused by a de novo partial deletion of the DAZ cluster on the Y chromosome. J. Clin. Endocr. Metab. 85: 4069-4073, 2000.
[0025524]16112.Reijo, R.; Lee, T.-Y.; Salo, P.; Alagappan, R.; Brown, L. G.; Rosenberg, M.; Rozen, S.; Jaffe, T.; Straus, D.; Hovatta, O.; de la Chapelle, A.; Silber, S.; Page, D. C.: Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nature Genet. 10: 383-393, 1995.
[0025525]16113.Reijo, R.; Seligman, J.; Dinulos, M. B.; Jaffe, T.; Brown, L. G.; Disteche, C. M.; Page, D. C.: Mouse autosomal homolog of DAZ, a candidate male sterility gene in humans, is expressed in male germ cells before and after puberty. Genomics 35: 346-352, 1996.
[0025526]16114.Saxena, R.; Brown, L. G.; Hawkins, T.; Alagappan, R. K.; Skaletsky, H.; Reeve, M. P.; Reijo, R.; Rozen, S.; Dinulos, M. B.; Disteche, C. M.; Page, D. C.: The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned. Nature Genet. 14: 292-299, 1996.
[0025527]16115.Najmabadi, H.; Huang, V.; Yen, P.; Subbarao, M. N.; Bhasin, D; Banaag, L.; Naseeruddin, S.; de Kretser, D. M.; Baker, H. W. G.; McLachlan, R. I.; Loveland, K. A.; Bhasin, S.: Substantial prevalence of microdeletions of the Y-chromosome in infertile men with idiopathic azoospermia and oligozoospermia detected using a sequence-tagged site-based mapping strategy. J. Clin. Endocr. Metab. 81: 1347-1352, 1996.
[0025528]16116.Wang, G.; Sawai, N.; Kotliarova, S.; Kanazawa, I.; Nukina, N.: Ataxin-3, the MJD1 gene product, interacts with the two human homologs of yeast DNA repair protein RAD23, HHR23A and HHR23B. Hum. Molec. Genet. 9: 1795-1803, 2000.
[0025529]16117.Ng, J. M. Y.; Vrieling, H.; Sugasawa, K.; Ooms, M. P.; Grootegoed, J. A.; Vreeburg, J. T. M.; Visser, P.; Beems, R. B.; Gorgels, T. G. M. F.; Hanaoka, F.; Hoeijmakers, J. H. J.; van der Horst, G. T. J. : Developmental defects and male sterility in mice lacking the ubiquitin-like DNA repair gene mHR23B. Molec. Cell. Biol. 22: 1233-1245, 2002.
[0025530]16118.Volker, M.; Mone, M. J.; Karmakar, P.; van Hoffen, A.; Schul, W.; Vermeulen, W.; Hoeijmakers, J. H. J.; van Driel, R.; van Zeeland, A. A.; Mullenders, L. H. F.: Sequential assembly of the nucleotide excision repair factors in vivo. Molec. Cell 8: 213-224, 2001.
[0025531]16119.Jernstrom, H.; Lerman, C.; Ghadirian, P.; Lynch, H. T.; Weber, B.; Garber, J.; Daly, M.; Olopade, O. I.; Foulkes, W. D.; Warner, E.; Brunet, J.-S.; Narod, S. A.: Pregnancy and risk of early breast cancer in carriers of BRCA1 and BRCA2. Lancet 354: 1846-1850, 1999.
[0025532]16120.Khittoo, G.; Manning, A.; Mustun, H.; Appadoo, J.; Venkatasamy, S.; Fagoonee, I.; Ghadirian, P.; Tonin, P. N.: Mutation analysis of a Mauritian hereditary breast cancer family reveals the BRCA2 6503delTT mutation previously found to recur in different ethnic populations. Hum. Hered. 52: 55-58, 2001.
[0025533]16121.Kinzler, K. W.; Vogelstein, B.: Gatekeepers and caretakers. Nature 386: 761-763, 1997.
[0025534]16122.Carrie, A.; Piccolo, F.; Leturcq, F.; de Toma, C.; Azibi, K.; Beldjord, C.; Vallat, J.-M.; Merlini, L.; Voit, T.; Sewry, C.; Urtizberea, J. A.; Romero, N.; Tome, F. M. S.; Fardeau, M.; Sunada, Y.; Campbell, K. P.; Kaplan, J.-C.; Jeanpierre, M.: Mutational diversity and hot spots in the alphasarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D). J. Med. Genet. 34: 470-475, 1997.
[0025535]16123.Coral-Vazquez, R.; Cohn, R. D.; Moore, S. A.; Hill, J. A.; Weiss, R. M.; Davisson, R. L.; Straub, V.; Barresi, R.; Bansal, D.; Hrstka, R. F.; Williamson, R.; Campbell, K. P.: Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy. Cell 98: 465-474, 1999.
[0025536]16124.Duggan, D. J.; Gorospe, J. R.; Fanin, M.; Hoffman, E. P.; Angelini, C.: Mutations in the sarcoglycan genes in patients with myopathy. New Eng. J. Med. 336: 618-624, 1997.
[0025537]16125.Fadic, R.; Sunada, Y.; Waclawik, A. J.; Buck, S.; Lewandoski, P. J.; Campbell, K. P.; Lotz, B. P.: Deficiency of a dystrophin-associated glycoprotein (adhalin) in a patient with muscular dystrophy and cardiomyopathy. New Eng. J. Med. 334: 362-366, 1996.
[0025538]16126.Kawai, H.; Akaike, M.; Endo, T.; Adachi, K.; Inui, T.; Mitsui, T.; Kashiwagi, S.; Fujiwara, T.; Okuno, S.; Shin, S.; Miyoshi, K.; Campbell, K. P.; Yamada, H.; Shimizu, T.; Matsumura, K.; Saito, S. : Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency. J. Clin. Invest. 96: 1202-1207, 1995.
[0025539]16127.Ljunggren, A.; Duggan, D.; McNally, E.; Boylan, K. B.; Gama, C. H.; Kunkel, L. M.; Hoffman, E. P.: Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin. Ann. Neurol. 38: 367-372, 1995.
[0025540]16128.McNally, E. M.; Yoshida, M.; Mizuno, Y.; Ozawa, E.; Kunkel, L. M.: Human adhalin is alternatively spliced and the gene is located on chromosome 17q21. Proc. Nat. Acad. Sci. 91: 9690-9694, 1994.
[0025541]16129.Passos-Bueno, M. R.; Oliveira, J. R.; Bakker, E.; Anderson, R. D.; Marie, S. K.; Vainzof, M.; Roberds, S. L.; Campbell, K. P.; Zatz, M.: Genetic heterogeneity for Duchenne-like muscular dystrophy (DLMD) based on linkage and 50 DAG analysis. Hum. Molec. Genet. 2: 1945-1947, 1993.
[0025542]16130.Passos Bueno, M. R.; Moreira, E. S.; Vainzof, M.; Chamberlain, J.; Marie, S. K.; Pereira, L.; Akiyama, J.; Roberds, S. L.; Campbell, K. P.; Zatz, M.: A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limbgirdle muscular dystrophy. Hum. Molec. Genet. 4: 1163-1167, 1995.
[0025543]16131.Piccolo, F.; Roberds, S. L.; Jeanpierre, M.; Leturcq, F.; Azibi, K.; Beldjord, C.; Carrie, A.; Recan, D.; Chaouch, M.; Reghis, A.; El Kerch, F.; Sefiani, A.; Voit, T.; Merlini, L.; Collin, H.; Eymard, B.; Beckmann, J. S.; Romero, N. B.; Tome, F. M. S.; Fardeau, M.; Campbell, K. P.; Kaplan, J.-C.: Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. Nature Genet. 10: 243-245, 1995.
[0025544]16132.Roberds, S. L.; Anderson, R. D.; Ibraghimov-Beskrovnaya, O.; Campbell, K. P.: Primary structure and muscle-specific expression on the 50-kDa dystrophin-associated glycoprotein (adhalin). J. Biol. Chem. 268: 23739-23742, 1993.
[0025545]16133.Roberds, S. L.; Leturcq, F.; Allamand, V.; Piccolo, F.; Jeanpierre, M.; Anderson, R. D.; Lim, L. E.; Lee, J. C.; Tome, F. M. S.; Romero, N. B.; Fardeau, M.; Beckmann, J. S.; Kaplan, J.-C.; Campbell, K. P. : Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell 78: 625-633, 1994.
[0025546]16134.Romero, N. B.; Tome, F. M. S.; Leturcq, F.; El Kerch, F.; Azibi, K.; Bachner, L.; Anderson, R. D.; Roberds, S. L.; Campbell, K. P.; Fardeau, M.; Kaplan, J.-C.: Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiency. Comp. Rend. Acad. Sci. (Paris) 317: 70-76, 1994.
[0025547]16135.Schara, U.; Gencik, M.; Mortier, J.; Langen, M.; Gencikova, A.; Epplen, J. T.; Mortier, W.: Alpha-sarcoglycanopathy previously misdiagnosed as Duchenne muscular dystrophy: implications for current diagnostics and patient care. Europ. J. Pediat. 160: 452-453, 2001.
[0025548]16136.Perelman, B.; Dafni, N.; Naiman, T.; Eli, D.; Yaakov, M.; Yang Feng, T. L.; Sinha, S.; Weber, G.; Khodaei, S.; Sancar, A.; Dotan, I.; Canaani, D.: Molecular cloning of a novel human gene encoding a 63-kDa protein and its sublocalization within the 11q13 locus. Genomics 41: 397-405, 1997.
[0025549]16137.Teitz, T.; Penner, M.; Eli, D.; Stark, M.; Bakhanashvili, M.; Naiman, T.; Canaani, D.: Isolation by polymerase chain reaction of a cDNA whose product partially complements the ultraviolet sensitivity of xeroderma pigmentosum group C cells. Gene 87: 295-298, 1990.
[0025550]16138.Kramps, T.; Peter, O.; Brunner, E.; Nellen, D.; Froesch, B.; Chatterjee, S.; Murone, M.; Zullig, S.; Basler, K.: Wnt/Wingless signaling requires BCL9/legless-mediated recruitment of pygopus to the nuclear beta-catenin-TCF complex. Cell 109: 47-60, 2002.
[0025551]16139.Willis, T. G.; Zalcberg, I. R.; Coignet, L. J. A.; Wlodarska, M.; Stul, D. M.; Jadayel, D. M.; Bastard, C.; Treleaven, J. G.; Catovsky, D.; Silva, M. L. M.; Dyer, M. J. S.: Molecular cloning of translocation t(1;14)(q21;q32) defines a novel gene (BCL9) at chromosome 1q21. Blood 91: 1873-1881, 1998.
[0025552]16140.Davidson, R. G.; Nitowsky, H. M.; Childs, B.: Demonstration of two populations of cells in the human female heterozygous for glucose-6-phosphate dehydrogenase variants. Proc. Nat. Acad. Sci. 50: 481-485, 1963.
[0025553]16141.De Flora, A.; Morelli, A.; Benatti, U.; Giuntini, P.; Ferraris, A. M.; Galiano, S.; Ravazzolo, R.; Gaetani, G. F.: G6PD Napoli and Ferrara II: two new glucose-6-phosphate dehydrogenase variants having similar characteristics but different intracellular lability and specific activity. Brit. J. Haemat. 48: 417-423, 1981.
[0025554]16142.Dern, R. J.; McCurdy, P. R.; Yoshida, A.: A new structural variant of glucose-6-phosphate dehydrogenase with a high production rate (G6PD Hektoen). J. Lab. Clin. Med. 73: 283-290, 1969.
[0025555]16143.De Vita, G.; Alcalay, M.; Sampietro, M.; Cappelini, M. D.; Fiorelli, G.; Toniolo, D.: Two point mutations are responsible for G6PD polymorphism in Sardinia. Am. J. Hum. Genet. 44: 233-240, 1989.
[0025556]16144.Du, C.; Xu, Y.; Hua, X.; Wu, Q.; Liu, L.; Wu, M.: Studies on erythrocyte glucose-6-phosphate dehydrogenase variants in Chinese. III: Gd(-) Miaozu-Baisha. Acta Genet. Sinica 11(2): 153-158, 1984.
[0025557]16145.Du, C.-S.; Hua, X.-Y.; Wu, Q.-L.; Li, C.-Q.; Zheng, J.-F.; Li, H.-L.: Studies on erythrocyte glucose-6-phosphate dehydrogenase variants in Chinese. IV. Gd(-) Gaohe associated with paroxysmal nocturnal hemoglobinuria. Chinese J. Pathophysiol. 1: 12-15, 1985.
[0025558]16146.Du, C. S.; Xu, Y. K.; Hua, X. Y.; Wu, Q. L.; Liu, L. B.: Glucose-6-phosphate dehydrogenase variants and their frequency in Guangdong, China. Hum. Genet. 80: 385-388, 1988.
[0025559]16147.Eber, S. W.; Gahr, M.; Schroter, W.: Glucose-6-phosphate dehydrogenase (G6PD) Iserlohn and G6PD Regensburg: two new severe enzyme defects in German families. Blut 51: 109-115, 1985.
[0025560]16148.Echard, G.; Gillois, M.: G6PD--alpha-GAL-PGK--HPRT synteny in the rabbit, Oryctolagus cunniculus. (Abstract) Cytogenet. Cell Genet. 25: 148-149, 1979.
[0025561]16149.Elizondo, J.; Saenz, G. F.; Paez, C. A.; Ramon, M.; Garcia, M.; Gutierrez, A.; Estrada, M.: G6PD Puerto Limon: a new deficient variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia. Hum. Genet. 62: 110-112, 1982.
[0025562]16150.Engstrom, P. F.; Beutler, E.: G-6-PD Tripler: a unique variant associated with chronic hemolytic disease. Blood 36: 10-13, 1970.
[0025563]16151.Epstein, C. J.: Mammalian oocytes: X-chromosome activity. Science 163: 1078-1079, 1969.
[0025564]16152.Ermakov, N. V.; Chernyak, N. B.; Tokarev, Y. N.: Properties of new variant of glucose-6-phosphate dehydrogenase (Regar variant): glucose metabolism in erythrocytes containing abnormal enzyme. Biokhimiia 48: 577-583, 1983.
[0025565]16153.Estrada, M.; Garcia, M.; Gutierrez, A.; Quintero, I.; Gonzalez, R.: G6PD Varadero. Vox Sang. 43: 102-104, 1982.
[0025566]16154.Fairbanks, V. F.; Nepo, A. G.; Beutler, E.; Dickson, E. R.; Honig, G.: Glucose-6-phosphate dehydrogenase variants: reexamination of G6PD Chicago and Cornell and a new variant (G6PD Pea Ridge) resembling G6PD Chicago. Blood 55: 216-220, 1980.
[0025567]16155.Faust, C. J.; Levinson, B.; Gitschier, J.; Herman, G. E.: Extension of the physical map in the region of the mouse X chromosome homologous to human Xq28 and identification of an exception to conserved linkage. Genomics 13: 1289-1295, 1992.
[0025568]16156.Feldman, R.; Gromisch, D. S.; Luhby, A. L.; Beutler, E.: Congenital nonspherocytic hemolytic anemia due to glucose-6-phosphate dehydrogenase East Harlem: a new deficient variant. J. Pediat. 90: 89-91, 1977.
[0025569]16157.Fernandez, M.; Fairbanks, V. F.: Glucose-6-phosphate dehydrogenase deficiency in the Philippines: report of a new variant--G6PD Panay. Mayo Clin. Proc. 43: 645-660, 1968.
[0025570]16158.Hostikka, S. L.; Eddy, R. L.; Byers, M. G.; Hoyhtya, M.; Shows, T. B.; Tryggvason, K.: Identification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome. Proc. Nat. Acad. Sci. 87: 1606-1610, 1990.
[0025571]16159.Bland, J. H. (General Chairman): Proceedings of seminars on the Lesch-Nyhan syndrome. Fed. Proc. 27: 1017-1112, 1968.
[0025572]16160.Ferraris, A. M.; Broccia, G.; Meloni, T.; Forteleoni, G.; Gaetani, G. F.: Glucose-6-phosphate dehydrogenase deficiency and incidence of hematologic malignancy. Am. J. Hum. Genet. 42: 516-520, 1988. 100. Filosa, E.: Personal Communication. La Jolla, Calif. 1989. 101. Filosa, S.; Calabro, V.; Vallone, D.; Poggi, V.; Mason, P.; Pagnini, D.; Alfinito, F.; Rotoli, B.; Martini, G.; Luzzatto, L.; Battistuzzi, G.: Molecular basis of chronic non-spherocytic haemolytic anaemia: a new G6PD variant (393arg-to-his) with abnormal K(m) G6P and marked in vivo instability. Brit. J. Haemat. 80: 111-116, 1992. 102. Filosa, S.; Giacometti, N.; Wangwei, C.; De Mattia, D.; Pagnini, D.; Alfinito, F.; Schettini, F.; Luzzatto, L.; Martini, G.: Somatic-cell selection is a major determinant of the blood-cell phenotype in heterozygotes for glucose-6-phosphate dehydrogenase mutations causing severe enzyme deficiency. Am. J. Hum. Genet. 59: 887-895, 1996. 103. Fiorelli, G.; Manoussakis, C.; Sampietro, M.; Pittalis, S.; Guglielmino, C. R.; Cappellini, M. D.: Different polymorphic variants of glucose-6-phosphate dehydrogenase (G6PD) in Italy. Ann. Hum. Genet. 53: 229-236, 1989. 104. Fite, E.; Morell, F.; Zuazu, J.; Julia, A.; Morera, J.: Leucocyte glucose-6-phosphate dehydrogenase deficiency and necrotizing pneumonia. Europ. J. Resp. Dis. 64: 150-154, 1983. 105. Francke, U.; Bakay, B.; Connor, J. D.; Coldwell, J. G.; Nyhan, W. L.: Linkage relationships of X-linked enzymes glucose-6-phosphate dehydrogenase and hypoxanthine guanine phosphoribosyltransferase. Am. J. Hum. Genet. 26: 512-522, 1974. 106. Friedman, M. J.; Trager, W.: The biochemistry of resistance to malaria. Sci. Am. 244(3): 154-164, 1981. 107. Frigerio, R.; Sole, G.; Olla, N.; Lovicu, M.; Passiu, G.; Carcassi, U.: Cagliari II: a new G-6-PD variant. Haematologica 72: 241-243, 1987. 108. Fujii, H.; Miwa, S.; Takegawa, S.; Takahashi, K.; Hirono, A.; Takizawa, T.; Morisaki, T.; Kanno, H.; Taguchi, T.; Okamura, J.: Gd(-) Gifu and Gd(-) Fukuoka: two new variants of glucose-6-phosphate dehydrogenase found in Japan. Hum. Genet. 66: 276-278, 1984. 109. Fujii, H.; Miwa, S.; Tani, K.; Takegawa, S.; Fujinami, N.; Takahashi, K.; Nakayama, S.; Konno, M.; Sato, T.: Glucose 6-phosphate dehydrogenase variants: a unique variant (G6PD Kobe) showed an extremely increased affinity for galactose 6-phosphate and a new variant (G6PD Sapporo) resembling G6PD Pea Ridge. Hum. Genet. 58: 405-407, 1981. 110. Gaetani, G. F.; Galiano, S.; Melani, C.; Miglino, M.; Forni, G. L.; Napoli, G.; Perrone, L.; Ferraris, A. M.: A new glucose-6-phosphate dehydrogenase variant with congenital nonspherocytic hemolytic anemia (G6PD Genova): biochemical characterization and mosaicism expression in the heterozygote. Hum. Genet. 84: 337-340, 1990. 111. Gahr, M.; Bornhalm, D.; Schroeter, W.: Biochemische Eigenschaften einer neuen Variante des Glucose-6-phosphadehydrogenase (G6PD) Mangels mit Favismus: G6PD Bielefeld. Klin. Wschr. 55: 379-384, 1977. 112. Gahr, M.; Bornhalm, D.; Schroeter, W.: Haemolytic anemia due to glucose 6-phosphate dehydrogenase (G6PD) deficiency: demonstration of two new biochemical variants, G6PD Hamm and G6PD Tarsus. Brit. J. Haemat. 33: 363-370, 1976. 113. Gahr, M.; Schroeter, W.: Glucose 6-phosphate dehydrogenase (G6PD) Hamburg, a new variant with chronic nonspherocytic hemolytic anemia. Europ. J. Clin. Invest. 4: 187-191, 1974. 114. Gahr, M.; Schroeter, W.; Sturzenegger, M.; Bornhalm, D.; Marti, H. R.: Glucose 6-phosphate dehydrogenase (G6PD) deficiency in Switzerland. Helv. Paediat. Acta 31: 159-166, 1976. 115. Geerdink, R. A.; Horst, R.; Staal, G. E.: An Iraqi Jewish family with a new red cell glucose 6-phosphate dehydrogenase variant (Gd-Bagdad) and kernicterus. Israel J. Med. Sci. 9: 1040-1043, 1973. 116. Gellin, J.; Benne, F.; Renard, C.; Vaiman, M.; Hors-Cayla, M. C.; Gillois, M.: Pig gene mapping: synteny, attempt to assign the histocompatibility complex (SLA). (Abstract) Cytogenet. Cell Genet. 25: 159, 1979. 117. Gomez-Gallego, F.; Garrido-Pertierra, A.; Bautista, J. M.: Structural defects underlying protein dysfunction in human glucose-6-phosphate dehydrogenase A- deficiency. J. Biol. Chem. 275: 9256-9262, 2000. 118. Gonzalez, R.; Estrada, M.; Garcia, M.; Gutierrez, A.: G6PD Ciudad de la Habana: a new slow variant with deficiency found in a Cuban family. Hum. Genet. 55: 133-135, 1980. 119. Gonzalez, R.; Wade, M.; Estrada, M.; Svarch, E.; Colombo, B. : G6PD Pinar del Rio: a new variant discovered in a Cuban family. Biochem. Genet. 15: 909-913, 1977. 120. Goss, S. J.; Harris, H.: Gene transfer by means of cell fusion. I. Statistical mapping of the human X-chromosome by analysis of radiation induced gene segregation. J. Cell Sci. 25: 17-37, 1977. 121. Gourdin, D.; Vergnes, H.; Bouloux, C.; Ruffie, J.; Gherardi, M.: Polymorphism of erythrocyte G6PD in the baboon. Am. J. Phys. Anthrop. 37: 281-288, 1972. 122. Gray, G. R.; Stamatoyannopoulos, G.; Naiman, S. C.; Kliman, M. R.; Klebanoff, S. J.; Austin, T.; Yoshida, A.; Robinson, G. C. G. : Neutrophil dysfunction, chronic granulomatous disease, and non-spherocytic haemolytic anaemia caused by complete deficiency of glucose-6-phosphate dehydrogenase. Lancet II: 530-534, 1973. 123. Grossman, A.; Ramanathan, K.; Justice, P.; Gordon, J.; Shahidi, N. T.; Hsia, D. Y. Y.: Congenital nonspherocytic hemolytic anemia associated with erythrocyte G-6-PD deficiency in a Negro family. Pediatrics 37: 624-629, 1966. 124. Gutierrez, A.; Garcia, M.; Estrada, M.; Quintero, I.; Gonzalez, R.: Glucose-6-phosphate dehydrogenase (G6PD) Guantanamo and G6PD Caujeri: two new glucose-6-phosphate dehydrogenase-deficient variants found in Cuba. Biochem. Genet. 25: 231-238, 1987. 125. Hall, K.; Schreeder, M. T.; Prchal, J. T.: G6PD Huntsville: a new glucose-6-phosphate dehydrogenase associated with chronic hemolytic anemia. Hum. Genet. 79: 90-91, 1988. 126. Harkonen, M.; Vuopio, P.: Red cell glucose-6-phosphate dehydrogenase deficiency in Finland. Ann. Clin. Res. 6: 187-197, 1974. 127. Harley, J. D.; Agar, N. S.; Yoshida, A.: Glucose 6-phosphate dehydrogenase variant Gd(+) Alexandra associated with neonatal jaundice and Gd(-) Camperdown in a young man with lamellar cataracts. J. Lab. Clin. Med. 91: 295-300, 1978. 128. Helge, H.; Borner, K.: Kongenitale nichtsphaerozytare haemolytische Anaemie, Katarakt und Glucose-6-phosphatdehydrogenase-mangel. Dtsch. Med. Wschr. 91: 1584-1589, 1966. 129. Hirono, A.; Beutler, E.: Alternative splicing of human glucose-6-phosphate dehydrogenase messenger RNA in different tissues. J. Clin. Invest. 83: 343-346, 1989. 130. Hirono, A.; Beutler, E.: Molecular cloning and nucleotide sequence of cDNA for human glucose-6-phosphate dehydrogenase variant A(-). Proc. Nat. Acad. Sci. 85: 3951-3954, 1988. 131. Hirono, A.; Fujii, H.; Shima, M.; Miwa, S.: G6PD Nara: a new class 1 glucose-6-phosphate dehydrogenase variant with an eight amino acid deletion. Blood 82: 3250-3252, 1998. 132. Hirono, A.; Kawate, K.; Honda, A.; Fujii, H.; Miwa, S.: A single mutation 202G-A in the human glucose-6-phosphate dehydrogenase gene (G6PD) can cause acute hemolysis by itself. (Letter) Blood 99: 1498 only, 2002. 133. Hirono, A.; Kuhl, W.; Gelbart, T.; Forman, L.; Fairbanks, V. F.; Beutler, E.: Identification of the binding domain for NADP(+) of human glucose-6-phosphate dehydrogenase by sequence analysis of mutants. Proc. Nat. Acad. Sci. 86: 10015-10017, 1989. 134. Hitzeroth, H. W.; Bender, K.: Age-dependency of somatic selection in South African Negro G-6-PD heterozygotes. Hum. Genet. 58: 338-343, 1981. 135. Honig, G. R.; Habacon, E.; Vida, L. N.; Matsumoto, F.; Beutler, E.: Three new variants of glucose-6-phosphate dehydrogenase associated with chronic nonspherocytic hemolytic anemia: G6PD Lincoln Park, G6PD Arlington Heights, and G6PD West Town. Am. J. Hemat. 6: 353-360, 1979. 136. Hook, E. B.; Stamatoyannopoulos, G.; Yoshida, A.; Motulsky, A. G.: Glucose-6-phosphate dehydrogenase Madrona: a slow electrophoretic glucose-6-phosphate dehydrogenase variant with kinetic characteristics similar to those of normal type. J. Lab. Clin. Med. 72: 404-409, 1968. 137. Hors-Cayla, M. C.; Heuertz, S.; Van Cong, N.; Benne, F.: Cattle gene mapping by somatic cell hybridization. (Abstract) Cytogenet. Cell Genet. 25: 165-166, 1979. 138. Howell, E. B.; Nelson, A. J.; Jones, O. W.: A new G-6-PD variant associated with chronic non-spherocytic haemolytic anaemia in a Negro family. J. Med. Genet. 9: 160-164, 1972. 139. Hutz, M. H.; Yoshida, A.; Salzano, F. M.: Three rare G-6-PD variants from Porto Alegre, Brazil. Hum. Genet. 39: 191-197, 1977. 140. Ishwad, C. S.; Naik, S. N.: A new glucose-6-phosphate dehydrogenase variant (G-6-PD Kalyan) found in a Koli family. Hum. Genet. 66: 171-175, 1984. 141. Johnson, G. J.; Kaplan, M. E.; Beutler, E.: G6PD Long Prairie: a new mutant exhibiting normal sensitivity to inhibition by NADPH and accompanied by nonspherocytic hemolytic anemia. Blood 49: 247-251, 1977. 142. Johnston, P. G.; VandeBerg, J. L.; Sharman, G. B.: Inheritance of erythrocyte glucose 6-phosphate dehydrogenase in the red-necked wallaby, Macropus rufogriseus (Desmarest) consistent with paternal X inactivation. Biochem. Genet. 13: 235-242, 1975. 143. Junien, C.; Kaplan, J.-C.; Meienhofer, M. C.; Maigret, P.; Sender, A.: G6PD Baudelocque: a new unstable variant characterized in cultured fibroblasts. Enzyme 18: 48-59, 1974. 144. Kaeda, J. S.; Chhotray, G. P.; Ranjit, M. R.; Bautista, J. M.; Reddy, P. H.; Stevens, D.; Naidu, J. M.; Britt, R. P.; Vulliamy, T. J.; Luzzatto, L.; Mason, P. J.: A new glucose-6-phosphate dehydrogenase variant, G6PD Orissa (44 ala-gly), is the major polymorphic variant in tribal populations in India. Am. J. Hum. Genet. 57: 1335-1341, 1995. 145. Kageoka, T.; Satoh, C.; Goriki, K.; Fujita, M.; Neriishi, S.; Yamamura, K.; Kaneko, J.; Masunari, N.: Electrophoretic variants of blood proteins in Japanese. IV. Prevalence and enzymologic characteristics of G6PD variants in Hiroshima and Nagasaki. Hum. Genet. 70: 101-108, 1985. 146. Kahn, A.; Bernard, J.-F.; Cottreau, D.; Mazie, J.; Boivin, P. : Gd(-) Abrami, a deficient G6PD variant with hemizygous expression in blood cells of a woman with primary myelofibrosis. Humangenetik 30: 41-46, 1975. 147. Kahn, A.; Boivin, P.; Hakim, J.; Lagneau, J.: Heterogeneite des glucose-6-phosphate dehydrogenase erythrocytaire deficitaires dans la race noire: etude cinetique et description de deux nouvelles variants Gd(-) Dakar et Gd(-) Mali. Nouv. Rev. Franc. Hemat. 11: 741-758, 1971. 148. Kahn, A.; Boivin, P.; Lagneau, J.: Phenotypes de la glucose-6-phosphate dehydrogenase erythrocytaire dans la race noire. Humangenetik 18: 261-270, 1973. 149. Kahn, A.; Boulard, M.; Hakim, J.; Schaison, G.; Boivin, P.; Bernard, J.: Anemie hemolytique congenitale non spherocytaire par deficit en glucose 6-phosphate dehydrogenase erythrocytaire: description de deux nouvelles variants: Gd(-) Saint Louis (Paris) et Gd(-) Hayem. Nouv. Rev. Franc. Hemat. 14: 587-600, 1974. 150. Kahn, A.; Dao, C.; Cottreau, D.; Bilski-Pasquier, G.: 'Gd(-) Hotel Dieu': a new G-6PD variant with chronic hemolysis in a Negro patient from Senegal. Hum. Genet. 39: 353-358, 1977. 151. Kahn, A.; Exters, A.; Habedank, M.: Gd(-) Aachen, a new variant of deficient glucose-6-phosphate dehydrogenase. Humangenetik 32: 171-180, 1976. 152. Kahn, A.; Hakim, J.; Cottreau, D.; Boivin, P.: Gd (-) Matam. An African glucose 6-phosphate dehydrogenase variant with enzyme deficiency. Biochemical and immunological properties in various hemopoietic tissues. Clin. Chim. Acta 59: 183-190, 1975. 153. Kahn, A.; North, M. L.; Cottreau, D.; Giron, G.; Lang, J. M. : G6PD Vientiane: a new glucose-6-phosphate dehydrogenase variant with increased stability. Hum. Genet. 43: 85-89, 1978. 154. Kahn, A.; North, M. L.; Messer, J.; Boivin, P.: G-6PD 'Ankara': a new G-6PD variant with deficiency found in a Turkish family. Humangenetik 27: 247-250, 1975. 155. Kanno, H.; Huang, I.-Y.; Kan, Y. W.; Yoshida, A.: Two structural genes on different chromosomes are required for encoding the major subunit of human red cell glucose-6-phosphate dehydrogenase. Cell 58: 595-606, 1989. 156. Kanno, H.; Takano, T.; Fujii, H.; Tani, K.; Morisaki, T.; Hirono, A.; Kumakawa, T.; Ogura, H.; Takahashi, K.; Tsutsumi, H.; Miwa, S. : A new glucose-6-phosphate variant (G6PD Iwate) associated with congenital non-spherocytic hemolytic anemia. Acta Haemat. Jpn. 51: 715-719, 1987. 157. Kaplan, J. C.; Hanzlickova-Leroux, A.; Nicholas, A. M.; Rosa, R.; Weiler, C.; Lepercq, G.: A new glucose-6-phosphate dehydrogenase variant (G6PD Port-Royal). Enzyme 12: 25-32, 1971. 158. Kaplan, J. C.; Rosa, R.; Seringe, P.; Hoeffel, J. C.: Le polymorphisme genetique de la glucose-6-phosphate deshydrogenase erythrocytaire chez l'homme. II. Etude d'une nouvelle variete a activite diminuee: le type 'Kabyle.'. Enzym. Biol. Clin. 8: 332-340, 1967. 159. Kaplan, M.; Hammerman, C.; Vreman, H. J.; Stevenson, D. K.; Beutler, E.: Acute hemolysis and severe neonatal hyperbilirubinemia in glucose-6-phosphate dehydrogenase deficient heterozygotes. J. Pediat. 139: 137-140, 2001. 160. Kaplan, M.; Renbaum, P.; Levy-Lahad, E.; Hammerman, C.; Lahad, A. Beutler, E.: Gilbert syndrome and glucose-6-phosphate dehydrogenase deficiency: a dose-dependent genetic interaction crucial to neonatal hyperbilirubinemia. Proc. Nat. Acad. Sci. 94: 12128-12132, 1997. 161. Kappas, A.; Drummond, G. S.; Valaes, T.: A single dose of Sn-mesoporphyrin prevents development of severe hyperbilirubinemia in glucose-6-phosphate dehydrogenase-deficient newborns. Pediatrics 108: 25-30, 2001. 162. Karadsheh, N. S.; Awidi, A. S.; Tarawneh, M. S.: Two new glucose-6 phosphate dehydrogenase (G6PD) variants associated with hemolytic anemia: G6PD Amman-1 and G6PD Amman-2. Am. J. Hemat. 22: 185-192, 1986. 163. Kay, A. C.; Kuhl, W.; Prchal, J.; Beutler, E.: The origin of glucose-6-phosphatedehydrogenase (G6PD) polymorphisms in African-Americans. Am. J. Hum. Genet. 50: 394-398, 1992. 164. Kirkman, H. N.; Kidson, C.; Kennedy, M.: Variants of human glucose-6-phosphate dehydrogenase. Studies of samples from New Guinea.In: Beutler, E. : Hereditary Disorders of Erythrocyte Metabolism. New York: Grune and Stratton (pub.) 1968. Pp. 126-145. 165. Kirkman, H. N.; Lie-Injo, L. E.: Variants of glucose 6-phosphate dehydrogenase in Indonesia. Nature 221: 959, 1969. 166. Kirkman, H. N.; McCurdy, P. R.; Naiman, J. L.: Functionally abnormal glucose-6-phosphate dehydrogenases. Cold Spring Harbor Symp. Quant. Biol. 29: 391-398, 1964. 167. Kirkman, H. N.; Ramot, B.; Lee, J. T.: Altered aggregational properties in a genetic variant of human glucose-6-phosphate dehydrogenase. Biochem. Genet. 3: 137-150, 1969. 168. Kirkman, H. N.; Riley, H. D., Jr.: Congenital nonspherocytic hemolytic anemia. Am. J. Dis. Child. 102: 313-320, 1961. 169. Kirkman, H. N.; Rosenthal, I. M.; Simon, E. B.; Carson, P. E.; Brinson, A. G.: 'Chicago I' variant of glucose-6-phosphate dehydrogenase in congenital hemolytic disease. J. Lab. Clin. Med. 63: 715-725, 1964. 170. Kirkman, H. N.; Schettini, E.; Pickard, B. M.: Mediterranean variant of glucose-6-phosphate dehydrogenase. J. Lab. Clin. Med. 63: 726-735, 1964. 171. Kirkman, H. N.; Simon, E. R.; Pickard, B. M.: Seattle variant of glucose-6-phosphate dehydrogenase. J. Lab. Clin. Med. 66: 834-840, 1965. 172. Kissin, C.; Cotte, J.: Etude d'un variant de glucose-6-phosphate deshydrogenase: I B type Constantine. Enzyme 11: 277-284, 1970. 173. Kitao, T.; Ito, K.; Hattori, K.; Matsuki, T.; Yoneyama, Y.: G6PD Kanazawa: a new variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia. Acta Haemat. 68: 131-135, 1982. 174. Kojima, H.: Congenital nonspherocytic hemolytic disease (CNHD) due to a G-6-PD variant: G-6-PD Kyoto. Acta Haemat. Jpn. 35: 32-38, 1972. 175. Koliakos, G.; Kalomenopoulou, M.; Grammatikos, P.; Dimitriadou, A.; Kouzi-Koliakos, K.; Zacharaki, R.; Skaragas, G.; Kokka, A.; Trakatellis, A.: A new glucose 6-phosphate dehydrogenase variant (G6PD Thessaloniki) in a patient with idiopathic myelofibrosis. Hum. Hered. 39: 141-149, 1989. 176. Krasnopolskaya, K. D.; Bochkov, N. P.: Genetic heterogeneity of hereditary enzymopathies. Vestn. Akad. Med. Nauk. SSSR 9: 56-64, 1982. 177. Krasnopolskaya, K. D.; Shatskaya, T. L.; Filippov, I. K.; Annenkov, G. A.; Zakharova, T. V.; Mekhtiev, N. K.; Movsum-Zade, K. M.: Genetic heterogeneity of G6PD deficiency: study of mutant alleles in Shekii district of Azerbaijan. Genetika 13: 1455-1461, 1977. 178. Kumakawa, T.; Suzuki, S.; Fujii, H.; Miwa, S.: Frequency of glucose 6-phosphate dehydrogenase (G6PD) deficiency in Tokyo and a new variant: G6PD Musashino. Acta Haemat. Jpn. 50: 25-28, 1987. 179. Kurdi-Haidar, B.; Mason, P. J.; Berrebi, A.; Ankra-Badu, G.; Al-Ali, A.; Oppenheim, A.; Luzzatto, L.: Origin and spread of the glucose-6-phosphate dehydrogenase variant (G6PD-Mediterranean) in the Middle East. Am. J. Hum. Genet. 47: 1013-1019, 1990. 180. Kwiatkowska, J.; Kacprzak-Bergman, I.: New erythrocyte glucose 6-phosphate dehydrogenase variant. Acta Haemat. 46: 188-192, 1971. 181. Kwok, C. J.; Martin, A. C. R.; Au, S. W. N.; Lam, V. M. S.: G6PDdb, an integrated database of glucose-6-phosphate dehydrogenase (G6PD) mutations. Hum. Mutat. 19: 217-224, 2002. 182. Lee, K. T.; Thomas, W. A.; Janakidevi, K.; Kroms, M.; Reiner, J. M.; Borg, K. Y.: Mosaicism in female hybrid hares heterozygous for glucose-6-phosphate dehydrogenase (G-6-PD). I. General properties of a hybrid hare model with special reference to atherogenesis. Exp. Molec. Path. 34: 191-201, 1981. 183. Lenzerini, L.; Meera Khan, P.; Filippi, G.; Rattazzi, M. C.; Rat, A. K.: Characterization of glucose-6-phosphate dehydrogenase variants. I. Occurrence of a G6PD Seattle-like variant in Sardinia and its interaction with G6PD Mediterranean variant. Am. J. Hum. Genet. 21: 142-153, 1969. 184. Lisker, R.; Linares, C.; Motulsky, A. G.: Glucose-6-phosphate dehydrogenase Mexico, a new variant with enzyme deficiency, abnormal mobility and absence of hemolysis. J. Lab. Clin. Med. 29: 788-793, 1972. 185. Lisker, R.; Perez-Briceno, R.; Beutler, E.: A new glucose-6-phosphate dehydrogenase variant, Gd(-) Tepic, characterized by moderate enzyme deficiency and mild episodes of hemolytic anemia. Hum. Genet. 69: 19-21, 1985. 186. Lisker, R.; Perez-Briceno, R.; Rave, V.; Yoshida, A.: Glucosa-6-fosfato deshidrogenasa Gd(-) Distrito Federal: nueva variante asociada a deficiencia enzimatica moderada y anemia hemolitica ocasional. Rev. Invest. Clin. 33: 209-211, 1981. 187. Lisker, R.; Perez Briceno, R.; Agrilar, L.; Yoshida, A.: A variant glucose-6-phosphate dehydrogenase Gd(-) Chiapas associated with moderate enzyme deficiency and occasional hemolytic anemia. Hum. Genet. 43: 81-84, 1978. 188. Lisker, R.; Perez Briceno, R.; Zavala, C.; Navarrette, J. I.; Wessels, M.; Yoshida, A.: A glucose 6-phosphate dehydrogenase Gd(-) Castilla variant characterized by mild deficiency associated with drug-induced hemolytic anemia. J. Lab. Clin. Med. 90: 754-759, 1977. 189. Liu, Y.; Phelan, J.; Go, R. C. P.; Prchal, J. F.; Prchal, J. T.: Rapid determination of clonality by detection of two closely-linked X chromosome exonic polymorphisms using allele-specific PCR. J. Clin. Invest. 99: 1984-1990, 1997. 190. Long, W. K.; Kirkman, H. N.; Sutton, H. H.: Electrophoretically slow variants of glucose-6-phosphate dehydrogenase from red cells of Negroes. J. Lab. Clin. Med. 65: 81-87, 1965. 191. Longo, L.; Vanegas, O. C.; Patel, M.; Rosti, V.; Li, H.; Waka, J.; Merghoub, T.; Pandolfi, P. P.; Notaro, R.; Manova, K.; Luzzatto, L.: Maternally transmitted severe glucose 6-phosphate dehydrogenase deficiency is an embryonic lethal. EMBO J. 21: 4229-4239, 2002. 192. Luzzatto, L.: Genetic heterogeneity and pathophysiology of G6PD deficiency. Brit. J. Haemat. 28: 151-156, 1974. 193. Luzzatto, L.: Personal Communication. London, England 4/1990. 194. Luzzatto, L.; Afolayam, A.: Enzyme properties of different types of human erythrocyte glucose-6-phosphate dehydrogenase with characterization of two new genetic variants. J. Clin. Invest. 47: 1833-1842, 1968. 195. Luzzatto, L.; Martini, G.: X-Linked Wiskott-Aldrich syndrome in a girl. (Letter) New Eng. J. Med. 338: 1850-1851, 1998. 196. Luzzatto, L.; Usanga, E. A.; Bienzle, U.; Esan, G. F. J.; Fusuan, F. A.: Imbalance in X-chromosome expression: evidence for a human X-linked gene affecting growth of hemopoietic cells. Science 205: 1418-1420, 1979. 197. Luzzatto, L.; Usanga, E. A.; Reddy, S.: Glucose-6-phosphate dehydrogenase deficient red cells: resistance to infection by malarial parasites. Science 164: 839-842, 1969. 198. MacDonald, D.; Town, M.; Mason, P.; Vulliamy, T.; Luzzatto, L.; Goff, D. K.: Deficiency in red blood cells. (Letter) Nature 350: 115, 1991. 199. Maeda, M.; Constantoulakis, P.; Chen, C.-S.; Stamatoyannopoulos, G.; Yoshida, A.: Molecular abnormalities of a human glucose-6-phosphate dehydrogenase variant associated with undetectable enzyme activity and immunologically cross-reacting material. Am. J. Hum. Genet. 51: 386-395, 1992. 200. Mallouh, A. A.; Abu-Osba, Y. K.: Bacterial infections in children with glucose-6-phosphate dehydrogenase deficiency. J. Pediat. 111: 850-852, 1987. 201. Mamlok, R. J.; Mamlok, V.; Mills, G. C.; Daeschner, C. W., III; Schmalstieg, F. C.; Anderson, D. C.: Glucose-6-phosphate dehydrogenase deficiency, neutrophil dysfunction and Chromobacterium violaceum sepsis. J. Pediat. 111: 852-854, 1987. 202. Mamlok, R. J.; Mills, G. C.; Goldblum, R. M.; Daeschner, C. W. : Glucose-6-phosphate dehydrogenase Beaumont: a new variant with severe enzyme deficiency and chronic nonspherocytic hemolytic anemia. Enzyme 34: 15-21, 1985. 203. Mandelli, F.; Amadori, S.; DeLaurenzi, A.; Kahn, A.; Isacchi, G.; Papa, G.: Glucose-6-phosphate dehydrogenase Velletri: a new variant with reduced activity in a patient with congenital non-spherocytic haemolytic anemia. Acta Haemat. 57: 121-126, 1977. 204. Marks, P. A.; Banks, J.; Gross, R.: Genetic heterogeneity of glucose-6-phosphate dehydrogenase deficiency. Nature 194: 454-456, 1962. 205. Martin, S. K.; Miller, L. H.; Alling, D.; Okoye, V. C.; Esan, G. J. F.; Osunkoya, B. O.; Deane, M.: Severe malaria and glucose-6-phosphatedehydrogenase deficiency: a reappraisal of the malaria-G6PD hypothesis. Lancet I: 524-526, 1979. 206. Martini, G.; Toniolo, D.; Vulliamy, T.; Luzzatto, L.; Dono, R.; Viglietto, G.; Paonessa, G.; D'Urso, M.; Persico, M. G.: Structural analysis of the X-linked gene encoding human glucose 6-phosphate dehydrogenase. EMBO J. 5: 1849-1855, 1986. 207. Mason, P. J.: New insights into G6PD deficiency. (Annotation) Brit. J. Haemat. 94: 585-591, 1996. 208. Mason, P. J.; Stevens, D. J.; Luzzatto, L.; Brenner, S.; Aparicio, S.: Genomic structure and sequence of the Fugu rubripes glucose-6-phosphate dehydrogenase gene (G6PD). Genomics 26: 587-591, 1995. 209. McCann, S. R.; Smithwick, A. M.; Temperley, I. J.; Tipton, K. : G6PD (Dublin): chronic non-spherocytic haemolytic anaemia resulting from glucose-6-phosphate dehydrogenase deficiency in an Irish kindred. J. Med. Genet. 17: 191-193, 1980. 210. McCurdy, P. R.: Use of genetic linkage for the detection of female carriers of hemophilia. New Eng. J. Med. 285: 218-219, 1971. 211. McCurdy, P. R.; Blackwell, R. Q.; Todd, D.; Tso, S. C.; Tuchinda, S.: Further studies on glucose-6-phosphate dehydrogenase deficiency in Chinese subjects. J. Lab. Clin. Med. 75: 788-797, 1970. 212. McCurdy, P. R.; Kamel, K.; Selim, O.: Heterogeneity of red cell glucose 6-phosphate dehydrogenase (G6PD) deficiency in Egypt. J. Lab. Clin. Med. 84: 673-680, 1974. 213. McCurdy, P. R.; Kirkman, H. N.; Naiman, J. L.; Jim, R. T. S.; Pickard, B. M.: A Chinese variant of glucose-6-phosphate dehydrogenase. J. Lab. Clin. Med. 67: 374-385, 1966. 214. McCurdy, P. R.; Mahmood, L.: Red cell glucose-6-phosphate dehydrogenase deficiency in Pakistan. J. Lab. Clin. Med. 76: 943-948, 1970. 215. McCurdy, P. R.; Maldonado, N. I.; Dillon, D. E.: Variants of glucose-6-phosphate dehydrogenase (G-6-PD) associated with G-6-PD deficiency in Puerto Ricans. J. Lab. Clin. Med. 82: 432-437, 1973. 216. McCurdy, P. R.; Maldonado, N. I.; Dillon, D. E.; Conrad, M. E. : Variants of glucose-6-phosphate dehydrogenase (G-6-PD) associated with G-6-PD deficiency in Puerto Ricans. J. Lab. Clin. Med. 82: 432-437, 1973. 217. Meloni, T.; Carta, F.; Forteleoni, G.; Carta, A.; Ena, F.; Meloni, G. F.: Glucose 6-phosphate dehydrogenase deficiency and cataract of patients in northern Sardinia. Am. J. Ophthal. 110: 661-664, 1990. 218. Mentzer, W. C., Jr.; Warner, R.; Addiego, J.; Smith, B.; Walter, T.: G6PD San Francisco: a new variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia. Blood 55: 195-198, 1980. 219. Mesbah-Namin, S. A.; Sanati, M. H.; Mowjoodi, A.; Mason, P. J.; Vulliamy, T. J.; Noori-Daloii, M. R.: Three major glucose-6-phosphate dehydrogenase-deficient polymorphic variants identified in Mazandaran state of Iran. Brit. J. Haemat. 117: 763-764, 2002. 220. Miller, D. R.; Wollman, M. R.: A new variant of glucose 6-phosphate dehydrogenase deficiency hereditary hemolytic anemia, G6PD Cornell: erythrocyte, leukocyte and platelet studies. Blood 44: 277-284, 1974. 221. Mills, G. C.; Alperin, J. B.; Trimmer, K. B.: Studies on variant glucose-6-phosphate dehydrogenase: G6PD Fort Worth. Biochem. Med. 13: 264-275, 1975. 222. Milner, G.; Delamore, I. W.; Yoshida, A.: G-6-PD Manchester: a new variant associated with chronic nonspherocytic hemolytic anemia. Blood 43: 271-276, 1974. 223. Miwa, S.; Fujii, H.: Molecular basis of erythroenzymopathies associated with hereditary hemolytic anemia: tabulation of mutant enzymes. Am. J. Hemat. 51: 122-132, 1996. 224. Miwa, S.; Fujii, H.; Nakashima, K.; Miura, Y.; Yamada, K.; Hagiwara, T.; Fukuda, M.: Three new electrophoretically normal glucose-6-phosphate dehydrogenase variants associated with congenital nonspherocytic hemolytic anemia found in Japan: G6PD Ogikubo, Yokohama, and Akita. Hum. Genet. 45: 11-17, 1978. 225. Miwa, S.; Fujii, H.; Nakatsuji, T.; Ishida, Y.; Oda, E.; Kaneto, A.; Motokawa, M.; Ariga, Y.; Fukuchi, S.; Sasai, S.; Hiraoka, K.; Kashii, H.; Kodama, T.: Four new electrophoretically slow-moving glucose-6-phosphate dehydrogenase variants associated with congenital nonspherocytic hemolytic anemia found in Japan: Gd(-) Kurume, Gd(-) Fukushima, Gd(-) Yamaguchi, and Gd(-) Wakayama. Am. J. Hemat. 5: 131-138, 1978. 226. Miwa, S.; Nakashima, K.; Ono, J.; Fujii, H.; Suzuki, E.: Three glucose 6-phosphate dehydrogenase variants found in Japan. Hum. Genet. 36: 327-334, 1977. 227. Miwa, S.; Ono, J.; Nakashima, K.; Abe, S.; Kageoka, T.; Shinohara, K.; Isobe, J.; Yamaguchi, H.: Two new glucose 6-phosphate dehydrogenase variants associated with congenital nonspherocytic hemolytic anemia found in Japan: Gd(-) Tokushima and Gd(-) Tokyo. Am. J. Hemat. 1: 433-442, 1976. 228. Modiano, G.; Battistuzzi, G.; Esan, G. J. F.; Testa, U.; Luzzatto, L.: Genetic heterogeneity of 'normal' human erythrocyte glucose-6-phosphate dehydrogenase: an isoelectrophoretic polymorphism. Proc. Nat. Acad. Sci. 76: 852-856, 1979. 229. Mohrenweiser, H. W.; Neel, J. V.: Frequency of thermostability variants: estimation of total 'rare' variant frequency in human populations. Proc. Nat. Acad. Sci. 78: 5729-5733, 1981. 230. Morelli, A.; Benatti, U.; Guida, L.; De Flora, A.: G6PD Cagliari: a new low activity glucose 6-phosphate dehydrogenase variant characterized by enhanced intracellular lability. Hum. Genet. 66: 62-65, 1984. 231. Morisaki, T.; Fujii, H.; Takegawa, S.; Tani, K.; Hirono, A.; Takizawa, T.; Takahashi, K.; Shinogi, M.; Teshirogi, T.; Miwa, S. : G6PD Sendagi: a new glucose-6-phosphate dehydrogenase variant associated with congenital hemolytic anemia. Hum. Genet. 65: 214-215, 1983. 232. Nafa, K.; Reghis, A.; Osmani, N.; Baghli, L.; Benabadji, M.; Kaplan, J.-C.; Vulliamy, T. J.; Luzzatto, L.: G6PD Aures: a new mutation (48 ile-to-thr) causing mild G6PD deficiency is associated with favism. Hum. Molec. Genet. 2: 81-82, 1993. 233. Nagel, R. L.; Ranney, H. M.: Genetic epidemiology of structural mutations of the beta-globin gene. Semin. Hemat. 27: 342-359, 1990. 234. Nakai, T.; Yoshida, A.: G6PD Heian. A glucose-6-phosphate dehydrogenase variant associated with hemolytic anemia found in Japan. Clin. Chim. Acta 51: 199-203, 1974. 235. Nakashima, K.; Ono, J.; Abe, S.; Miwa, S.; Yoshida, A.: G6PD Ube: a glucose 6-phosphate dehydrogenase variant found in four unrelated Japanese families. Am. J. Hum. Genet. 29: 24-30, 1977. 236. Nakatsuji, T.; Miwa, S.: Incidence and characteristics of glucose-6-phosphate dehydrogenase variants in Japan. Hum. Genet. 51: 297-305, 1979. 237. Nance, W. E.: Turner's syndrome, twinning, and an unusual variant of glucose-6-phosphate dehydrogenase. Am. J. Hum. Genet. 16: 380-392, 1964. 238. Necheles, T. F.; Snyder, L. M.; Strauss, W.: Glucose-6-phosphate dehydrogenase Boston. A new variant associated with congenital nonspherocytic hemolytic disease. Humangenetik 13: 218-221, 1971. 239. Niazi, G.; Adeyokunu, A.; Westwood, B.; Beutler, E.: G6PD Aures: a rare mutant of G6PD in Saudi Arabia: molecular and clinical presentations. Saudi Med. J. 17: 311-314, 1996. 240. Ninfali, P.; Baronciani, L.; Bardoni, A.; Bresolin, N.: Muscle expression of glucose-6-phosphate dehydrogenase deficiency in different variants. Clin. Genet. 48: 232-237, 1995. 241. Notaro, R.; Afolayan, A.; Luzzatto, L.: Human mutations in glucose 6-phosphate dehydrogenase reflect evolutionary history. FASEB J. 14: 485-494, 2000. 242. Nowicki, L.; Strobel, S.; Martin, H.; Koschwitz, U.: Ueber eine neue erythrocytaere glucose 6-phosphatdehydrogenase Variante, Typ Frankfurt. Klin. Wschr. 52: 478-484, 1974. 243. Nsouly, G. M.; Prchal, J. T.: Characterization of a new G6PD variant and its associated oxidative damage. Clin. Res. 29: 829, 1981. 244. O'Brien, S. J.: The extent and character of biochemical genetic variation in the domestic cat. J. Hered. 71: 2-8, 1980. 245. Ogura, H.; Morisaki, T.; Tani, K.; Kanno, H.; Tsutsumi, H.; Takahashi, K.; Miyamori, T.; Fujii, H.; Miwa, S.: A new glucose-6-phosphate dehydrogenase variant (G6PD Tsukui) associated with congenital hemolytic anemia. Hum. Genet. 78: 369-371, 1988. 246. Ohno, S.: Sex Chromosomes and Sex-linked Genes. Berlin and New York: Springer (pub.) 1967. 247. Orzalesi, N.; Sorcinelli, R.; Guiso, G.: Increased incidence of cataracts in male subjects deficient in glucose-6-phosphate dehydrogenase. Arch. Ophthal. 99: 69-70, 1981. 248. Othieno-Obel, A.: East African variant of glucose-6-phosphate dehydrogenase. East Afr. Med. J. 49: 230-234, 1972. 249. Pai, G. S.; Sprenkle, J. A.; Do, T. T.; Mareni, C. E.; Migeon, B. R.: Localization of loci for hypoxanthine phosphoribosyltransferase and glucose-6-phosphate dehydrogenase and biochemical evidence of nonrandom X chromosome expression from studies of a human X-autosome translocation. Proc. Nat. Acad. Sci. 77: 2810-2813, 1980. 250. Panich, V.: G6PD variants in Laotians. Hum. Hered. 24: 285-290, 1974. 251. Panich, V.: G6PD Intanon, a new glucose 6-phosphate dehydrogenase variant. Humangenetik 21: 203-205, 1974. 252. Panich, V.: G6PD characterization in Thailand. Genetics 74 (suppl.): s208 only, 1973. 253. Panich, V.: Glucose-6-phosphate dehydrogenase in Thailand. Hum. Genet. 53: 227-228, 1980. 254. Panich, V.; Bumrungtrakul, P.; Jitjai, C.; Kamolmatayakul, S.; Khoprasert, B.; Klaisuvan, C.; Kongmuang, U.; Maneechai, P.; Pornpatkul, M.; Ruengrairatanaroje, P.; Surapruk, P.; Viriyayudhakorn, S.: Glucose-6-phosphate dehydrogenase deficiency in South Vietnamese. Hum. Hered. 30: 361-364, 1980. 255. Panich, V.; Na-Nakorn, S.: G6PD variants in Thailand. J. Med. Assoc. Thai. 63: 537-543, 1980. 256. Panich, V.; Sungnate, T.: Characterization of glucose 6-phosphate dehydrogenase in Thailand: the occurrence of 6 variants among 50 G6PD deficient Thai. Humangenetik 18: 39-46, 1973. 257. Panich, V.; Sungnate, T.; Na-Nakorn, S.: Acute intravascular hemolysis and renal failure in a new glucose 6-phosphate dehydrogenase variant: G6PD Siriraj. J. Med. Assoc. Thai. 55: 726-731, 1972. 258. Panich, V.; Sungnate, T.; Wasi, P.; Na-Nakorn, S.: G-6-PD Mahidol: the most common glucose-6-phosphate dehydrogenase variant in Thailand. J. Med. Assoc. Thai. 55: 576-585, 1972. 259. Pawlak, A. L.; Mazurkiewicz, C. A.; Ordynski, J.; Ruzynkowa, D.; Horst, A.: G6PD Poznan, variant with severe enzyme deficiency. Humangenetik 28: 163-165, 1975. 260. Pawlak, A. L.; Zagorski, Z.; Rozynkowa, D.; Horst, A.: Polish variant of glucose-6-phosphate dehydrogenase (G-6-PD Lublin). Humangenetik 10: 340-343, 1970. 261. Pekrun, A.; Eber, S. W.; Schroter, W.: G6PD Avenches and G6PD Moosburg: biochemical and erythrocyte membrane characterization. Blut 58: 11-14, 1989. 262. Perroni, L.; Tassara, P.; Baldi, M.; Reali, R.; Scartezzini, P.: G6PD variants detected in Genoa area.In: Weatherall, D. J.; Fiorelli, G.; Gorini, S.: Advances in Red Blood Cell Biology. New York: Raven Press (pub.) 1982. Pp. 409-416. 263. Persico, M. G.; Toniolo, D.; Nobile, C.; D'Urso, M.; Luzzatto, L.: cDNA sequences of human glucose 6-phosphate dehydrogenase cloned in pBR322. Nature 294: 778-780, 1981. 264. Persico, M. G.; Viglietto, G.; Martini, G.; Toniolo, D.; Paonessa, G.; Moscatelli, C.; Dono, R.; Vulliamy, T.; Luzzatto, L.; D'Urso, M.: Isolation of human glucose-6-phosphate dehydrogenase (G6PD) cDNA clones: primary structure of the protein and unusual 5-prime non-coding region. Nucleic Acids Res. 14: 2511-2522, 1986. 265. Picat, C.; Etiemble, J.; Boivin, P.; Le Prise, P.-Y.: Gd(-) Rennes, a new deficient variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia found in France. Hum. Genet. 55: 125-127, 1980. 266. Pinto, P. V. C.; Newton, W. A., Jr.; Richardson, K. E.: Evidence for four types of erythrocyte glucose-6-phosphate dehydrogenase from G-6-PD deficient human subjects. J. Clin. Invest. 45: 823-831, 1966. 267. Poggi, V.: Personal Communication. London, England 1989. 268. Poon, M.-C.; Hall, K.; Scott, C. W.; Prchal, J. T.: G6PD Viangchan: a new glucose 6-phosphate dehydrogenase variant from Laos. Hum. Genet. 78: 98-99, 1988. 269. Porter, I. H.; Boyer, S. H.; Watson-Williams, E. J.; Adam, A.; Szeinberg, A.; Siniscalco, M.: Variation of glucose-6-phosphate dehydrogenase in different populations. Lancet I: 895-899, 1964. 270. Porter, I. H.; Schulze, J.; McKusick, V. A.: Genetical linkage between the loci for glucose-6-phosphate dehydrogenase deficiency and colour-blindness in American Negroes. Ann. Hum. Genet. 26: 107-122, 1962. 271. Prchal, J.; Moreno, H.; Conrad, M.; Vitek, A.: G-6-PD Dothan: a new variant associated with chronic hemolytic anemia. I.R.C.S. 7: 348, 1979. 272. Prchal, J. T.: Personal Communication. Birmingham, Ala. 1985. 273. Prchal, J. T.; Crist, W. M.; Malluh, A.; Vitek, A.; Tauxe, W. N.; Carroll, A. J.: A new glucose-6-phosphate dehydrogenase deficient variant in a patient with Chediak-Higashi syndrome. Blood 56: 476-480, 1980. 274. Prchal, J. T.; Hall, K.; Csepreghy, M.; Lilly, M.; Berkow, R.; Scott, C. W.: Two apparent glucose-6-phosphate dehydrogenase variants in normal XY males: G6PD Alabama. Am. J. Med. 84: 517-523, 1988. 275. Pretsch, W.; Charles, D. J.; Merkle, S.: Xlinked glucose-6-phosphate-dehydrogenase deficiency in Mus musculus. Biochem. Genet. 26: 89-103, 1988. 276. Puck, J. M.; Willard, H. F.: X inactivation in females with X-linked disease. New Eng. J. Med. 338: 325-327, 1998. 277. Ramot, B.; Ben-Bassat, I.; Shchory, M.: New glucose-6-phosphate dehydrogenase variants observed in Israel and their association with congenital nonspherocytic hemolytic disease. J. Lab. Clin. Med. 74: 895-901, 1969. 278. Ramot, B.; Brok, F.: A new glucose-6-phosphate dehydrogenase mutant (Tel-Hashomer mutant). Ann. Hum. Genet. 28: 167-172, 1964. 279. Rattazzi, M. C.; Corash, L. M.; Van Zzanen, G. E.; Jaffe, E. R.; Piomelli, S.: G6PD deficiency and chronic hemolysis: four new mutants--relationships between clinical syndrome and enzyme kinetics. Blood 38: 205-218, 1971. 280. Rattazzi, M. C.; Lenzerini, L.; Meera Khan, P.; Luzzatto, L. : Characterization of glucose-6-phosphate dehydrogenase variants. II. G6PD Kephalonia, G6PD Attica, and G6PD 'Seattle-like' found in Greece. Am. J. Hum. Genet. 21: 154-167, 1969. 281. Ravindranath, Y.; Beutler, E.: Two new variants of glucose-6-phosphate dehydrogenase associated with hereditary non-spherocytic hemolytic anemia: G6PD Wayne and G6PD Huron. Am. J. Hemat. 24: 357-363, 1987. 282. Reys, L.; Manso, C.; Stamatoyannopoulos, G.: Genetic studies on Southeastern Bantu of Mozambique. I. Variants of glucose-6-phosphate dehydrogenase. Am. J. Hum. Genet. 22: 203-215, 1970. 283. Rinaldi, A.; Filippi, G.; Siniscalco, M.: Variability of red cell phenotypes between and within individuals in an unbiased sample of 77 heterozygotes for G6PD deficiency in Sardinia. Am. J. Hum. Genet. 28: 496-505, 1976. 284. Rosenstraus, M.; Chasin, L. A.: Isolation of mammalian cell mutants deficient in glucose-6-phosphate dehydrogenase activity: linkage to hypoxanthine phosphoribosyl transferase. Proc. Nat. Acad. Sci. 72: 493-497, 1975. 285. Roth, E. F., Jr.; Raventos-Suarez, C.; Rinaldi, A.; Nagel, R. L.: Glucose-6-phosphate dehydrogenase deficiency inhibits in vitro growth of Plasmodium falciparum. Proc. Nat. Acad. Sci. 80: 298-299, 1983. 286. Roychoudhury, A. K.; Nei, M.: Human Polymorphic Genes: World Distribution. New York: Oxford Univ. Press (pub.) 1988. 287. Ruwando, C.; Khea, S. C.; Snow, R. W.; Yates, S. N. R.; Kwiatkoweld, D.; Gupta, S.; Warn, P.; Alisopp, G. E. M.; Gilbert, S. C.; Peschu, N.; Newbold, C. I.; Greenwood, S. M.; Marsh, K.; Hill, A. V. S.: Natural selection of hemi- and heterozygotes for G6PD deficiency in Africa by resistance to severe malaria. Nature 376: 246-249, 1995. 288. Saenz, G. F.; Chaves, M.; Berrantes, A.; Elizondo, J.; Montero, A. G.; Yoshida, A.: A glucose-6-phosphate dehydrogenase variant, Gd(-) Santamaria found in Costa Rica. Acta Haemat. 72: 37-40, 1984. 289. Saidi, N.; Hors-Cayla, M. C.; Van Cong, N.; Benne, F.: Sheep gene mapping by somatic cell hybridization. (Abstract) Cytogenet. Cell Genet. 25: 200, 1979. 290. Samuel, A. P. W.; Saha, N.; Omer, A.; Hoffbrand, A. V.: Quantitative expression of G6PD activity of different phenotypes of G6PD and haemoglobin in a Sudanese population. Hum. Hered. 31: 110-115, 1981. 291. Sansone, G.; Perroni, L.; Testa, U.; Mareni, C.; Luzzatto, L. : New genetic variants of glucose 6-phosphate dehydrogenase (G6PD) in Italy. Ann. Hum. Genet. 45: 97-104, 1981. 292. Sansone, G.; Perroni, L.; Yoshida, A.: Glucose-6-phosphate dehydrogenase variants from Italian subjects associated with severe neonatal jaundice. Brit. J. Haemat. 31: 159-165, 1975. 293. Sansone, G.; Perroni, L.; Yoshida, A.; Dave, V.: A new glucose 6-phosphate dehydrogenase variant (Gd Trinacria) in two unrelated families of Sicilian ancestry. Ital. J. Biochem. 26: 44-50, 1977. 294. Shatskaya, T. L.; Krasnopolskaya, K. D.; Annenkov, G. A.: A description of new mutant forms of erythrocyte glucose-6-phosphate dehydrogenase isolated at the territory of the Soviet Union. Genetika 11: 116-122, 1975. 295. Shatskaya, T. L.; Krasnopolskaya, K. D.; Idelson, L. J.: The new form of glucose 6-phosphate dehydrogenase (G6PD 'Kaluga') from erythrocytes of a patient with chronic non-spherocytic hemolytic anemia. Vopr. Med. Khim. 22: 764-768, 1976. 296. Shatskaya, T. L.; Krasnopolskaya, K. D.; Idelson, L. J.: Mutant forms of erythrocyte glucose 6-phosphate dehydrogenase in Ashkenazi: description of two new variants, G6PD Kirovograd and G6PD Zhitomir. Humangenetik 33: 175-178, 1976. 297. Shatskaya, T. L.; Krasnopolskaya, K. D.; Tzoneva, M.; Mavrudieva, M.; Toncheva, D.: Variants of erythrocyte glucose-6-phosphate dehydrogenase (G6PD) in Bulgarian populations. Hum. Genet. 54: 115-117, 1980. 298. Shatskaya, T. L.; Krasnopolskaya, K. D.; Zakharova, T. V.: Regularities of distribution of Gd-alleles in Azerbaijan. II. Identification of G6PD mutant forms. Genetika 16: 2217-2225, 1980. 299. Shows, T. B.; Brown, J. A.: Human X-linked genes regionally mapped utilizing Xautosome translocations and somatic cell hybrids. Proc. Nat. Acad. Sci. 72: 2125-2129, 1975. 300. Shows, T. B.; Brown, J. A.; Chapman, V. M.: Comparative gene mapping of HPRT, G6PD and PGK in man, mouse, and Muntjac deer. Birth Defects Orig. Art. Ser. XII(7): 436-439, 1976. 301. Shows, T. B.; Tashian, R. E.; Brewer, G. J.: Erythrocyte glucose-6-phosphate dehydrogenase in Caucasians: new inherited variant. Science 145: 1056-1057, 1964. 302. Sidi, Y.; Aderka, D.; Brok-Simoni, F.; Benjamin, D.; Ramot, B.; Pinkhas, J.: Viral hepatitis with extreme hyperbilirubinemia, massive hemolysis and encephalopathy in a patient with a new G6PD variant. Israel J. Med. Sci. 16: 130-133, 1980. 303. Siegel, N. H.; Beutler, E.: Hemolytic anemia caused by G-6-PD Carswell, a new variant. Ann. Intern. Med. 75: 437-439, 1971. 304. Smith, J. E.; Ryer, K.; Wallace, L.: Glucose-6-phosphate dehydrogenase deficiency in a dog. Enzyme 21: 379-382, 1976. 305. Snyder, L. M.; Necheles, T. F.; Reddy, W. J.: G-6-PD Worcester: a new variant, associated with X-linked optic atrophy. Am. J. Med. 49: 125-132, 1970. 306. Stamatoyannopoulos, G.; Kotsakis, P.; Voigtlander, V.; Akrivakis, A.; Motulsky, A. G.: Electrophoretic diversity of glucose-6-phosphate dehydrogenase among Greeks. Am. J. Hum. Genet. 22: 587-596, 1970. 307. Stamatoyannopoulos, G.; Voigtlander, V.; Akrivakis, A.: Thessaly variant of glucose-6-phosphate dehydrogenase. Humangenetik 9: 23-25, 1970. 308. Stamatoyannopoulos, G.; Voigtlander, V.; Kotsakis, P.; Akrivakis, A.: Genetic diversity of the 'Mediterranean' glucose-6-phosphate dehydrogenase deficiency phenotype. J. Clin. Invest. 50: 1253-1261, 1971. 309. Stamatoyannopoulos, G.; Yoshida, A.; Bacopoulos, C.; Motulsky, A. G.: Athens variant of glucose-6-phosphate dehydrogenase. Science 157: 831-833, 1967. 310. Stevens, D. J.; Wanachiwanawin, W.; Mason, P. J.; Vulliamy, T. J.; Luzzatto, L.: G6PD Canton a common deficient variant in South East Asia caused by a 459 arg-to-leu mutation. Nucleic Acids Res. 18: 7190, 1990. 311. Stocco dos Santos, R. C.; Barretto, O. C. O.; Nonoyama, K.; Castro, N. H. C.; Ferraz, O. P.; Walter-Moura, J.; Vescio, C. C. S.; Becak, W.: X-linked syndrome: mental retardation, hip luxation, and G6PD variant (Gd(+) Butantan). Am. J. Med. Genet. 39: 133-136, 1991. 312. Stockham, S. L.; Harvey, J. W.; Kinden, D. A.: Equine glucose-6-phosphate dehydrogenase deficiency. Vet. Path. 31: 518-527, 1994. 313. Streiff, F.; Vigneron, C.: Anemie hemolytique chronique par deficit en glucose 6-phosphate deshydrogenase dans une famille d'origine Lorraine. Nouv. Rev. Franc. Hemat. 11: 279-290, 1971. 314. Takahashi, K.; Fujii, H.; Takegawa, S.; Tani, K.; Hirono, A.; Takizawa, T.; Kawakatsu, T.; Miwa, S.: A new glucose-6-phosphate dehydrogenase variant (G6PD Nagano) associated with congenital hemolytic anemia. Hum. Genet. 62: 368-370, 1982. 315. Takizawa, T.; Fujii, H.; Takegawa, S.; Takahashi, K.; Hirono, A.; Morisaki, T.; Kanno, H.; Oka, R.; Yoshioka, H.; Miwa, S.: A unique electrophoretic slow-moving glucose 6-phosphate dehydrogenase variant (G6PD Asahikawa) with a markedly acidic pH optimum. Hum. Genet. 68: 70-72, 1984. 316. Takizawa, T.; Huang, I.-Y.; Ikuta, T.; Yoshida, A.: Human glucose-6-phosphate dehydrogenase: primary structure and cDNA cloning. Proc. Nat. Acad. Sci. 83: 4157-4161, 1986. 317. Takizawa, T.; Yoneyama, Y.; Miwa, S.; Yoshida, A.: A single nucleotide base transition is the basis of the common human glucose-6-phosphate dehydrogenase variant A(+). Genomics 1: 228-231, 1987. 318. Takizawa, T.; Yoshida, A.: Molecular abnormality of the common glucose-6-phosphate dehydrogenase variant, G6PD A(+), and restriction-fragment-length polymorphism. (Abstract) Am. J. Hum. Genet. 41: A241, 1987. 319. Talalak, P.; Beutler, E.: G-6-PD Bangkok: a new variant found in congenital nonspherocytic hemolytic disease (CNHD). Blood 33: 772-776, 1969. 320. Tanaka, K. R.; Beutler, E.: Hereditary hemolytic anemia due to glucose-6-phosphate dehydrogenase Torrance: a new variant. J. Lab. Clin. Med. 73: 657-667, 1969. 321. Tang, T. K.; Huang, C.-S.; Huang, M. J.; Tam, K.-B.; Yeh, C.-H.; Tang, C.-J. C.: Diverse point mutations result in glucose-6-phosphate dehydrogenase (G6PD) polymorphism in Taiwan. Blood 79: 2135-2140, 1992. 322. Testa, U.; Meloni, T.; Lania, A.; Battistuzzi, G.; Cutillo, S.; Luzzatto, L.: Genetic heterogeneity of glucose-6-phosphate dehydrogenase deficiency in Sardinia. Hum. Genet. 56: 99-105, 1980. 323. Thigpen, J. T.; Steinberg, M. H.; Beutler, E.; Gillespie, G. T., Jr.; Dreiling, B. J.; Morrison, F. S.: Glucose-6-phosphate dehydrogenase Jackson, a new variant associated with hemolytic anemia. Acta Haemat. 51: 310-314, 1974. 324. Tishkoff, S. A.; Varkonyi, R.; Cahinhinan, N.; Abbes, S.; Argyropoulos, G.; Destro-Bisol, G.; Drousiotou, A.; Dangerfield, B.; Lefranc, G.; Loiselet, J.; Piro, A.; Stoneking, M.; Tagarelli, A.; Tagarelli, G.; Touma, E. H.; Williams, S. M.; Clark, A. G.: Haplotype diversity and linkage disequilibrium at human G6PD: recent origin of alleles that confer malarial resistance. Science 293: 455-462, 2001. 325. Tokarev, Y. N.; Chernyak, N. B.; Batischev, A. I.; Lanzina, N. V.; Alexeyev, G. A.: Etude des proprietes electrophoretiques et cinetiques de la glucose-6-phosphate deshydrogenase (Gd) d'erythrocytes dans les deficits hereditaires de l'enzyme: description d'une nouvelle variante de glucose-6-phosphate deshydrogenase: la Gd Kremenchug. Nouv. Rev. Franc. Hemat. 20: 557-564, 1978. 326. Toncheva, D.: Variants of glucose-6-phosphate dehydrogenase in a Vietnamese population. Hum. Hered. 36: 348-351, 1986. 327. Toncheva, D.; Tzoneva, M.: Genetic polymorphism of G6PD in a Bulgarian population. Hum. Genet. 67: 340-342, 1984. 328. Toniolo, D.; Martini, G.; Migeon, B. R.; Dono, R.: Expression of the G6PD locus on the human X chromosome is associated with demethylation of three CpG islands within 100 kb of DNA. EMBO J. 7: 401-406, 1988. 329. Town, M.; Athanasiou-Metaxa, M.; Luzzatto, L.: Intragenic interspecific complementation of glucose 6-phosphate dehydrogenase in humanhamster cell hybrids. Somat. Cell Molec. Genet. 16: 97-108, 1990. 330. Town, M.; Bautista, J. M.; Mason, P. J.; Luzzatto, L.: Both mutations in G6PD A- are necessary to produce the G6PD deficient phenotype. Hum. Molec. Genet. 1: 171-174, 1992. 331. Usanga, E. A.; Bienzle, U.; Cancedda, K.; Fasuan, F. A.; Ajayi, O.; Luzzatto, L.: Genetic variants of human erythrocyte glucose 6-phosphate dehydrogenase: new variants in West Africa characterized by column chromatography. Ann. Hum. Genet. 40: 279-286, 1977. 332. Vaca, G.; Ibarra, B.; Garcia Cruz, D.; Medina, C.; Romero, F.; Cantu, J. M.; Beutler, E.: G-6-PD Jalisco and G-6-PD Morelia: two new Mexican variants. Hum. Genet. 71: 82-85, 1985. 333. Vaca, G.; Ibarra, B.; Romero, F.; Olivares, N.; Cantu, J. M.; Beutler, E.: G-6-PD Guadalajara: a new mutant associated with chronic nonspherocytic hemolytic anemia. Hum. Genet. 61: 175-176, 1982. 334. Ventura, A.; Panizon, F.; Soranzo, M. R.; Veneziano, G.; Sansone, G.; Testa, U.; Luzzatto, L.: Congenital dyserythropoietic anaemia type II associated with a new type of G6PD deficiency (G6PD Gabrovizza). Acta Haemat. 71: 227-234, 1984. 335. Vergnes, H.; Gherardi, M.; Bouloux, C.: Erythrocyte glucose-6-phosphate dehydrogenase in the Niokolonko (Malinke of the Niokolo) of the Eastern Senegal: identification of a slow variant with normal activity (Tacoma-like). Hum. Hered. 25: 80-87, 1975. 336. Vergnes, H.; Gherardi, M.; Quilici, J. C.; Yoshida, A.; Giacardy, R.: G6PD Luz-Saint-Sauveur: a new variant with abnormal electrophoretic mobility, mild enzyme deficiency and absence of hemolytic disorders. I.R.C.S. 7: 14, 1973. 337. Vergnes, H.; Gherardi, M.; Yoshida, A.: G6PD Lozere and Trinacrialike: segregation of two non-hemolytic variants in a French family. Hum. Genet. 34: 293-298, 1976. 338. Vergnes, H.; Ribet, A.; Bommelaer, G.; Amadieu, J.; Brun, H. : GD(-) Muret and GD(-) Colomiers, two new variants of glucose-6-phosphate dehydrogenase associated with favism. Hum. Genet. 57: 332-334, 1981. 339. Vergnes, H.; Yoshida, A.; Gourdin, D.; Gherardi, M.; Bierme, R.; Ruffie, J.: Glucose 6-phosphate dehydrogenase Toulouse: a new variant with marked instability and severe deficiency discovered in a family of Mediterranean ancestry. Acta Haemat. 51: 240-249, 1974. 340. Viglietto, G.; Montanaro, V.; Calabro, V.; Vallone, D.; D'Urso, M.; Persico, M. G.; Battistuzzi, G.: Common glucose-6-phosphate dehydrogenase (G6PD) variants from the Italian population: biochemical and molecular characterization. Ann. Hum. Genet. 54: 1-15, 1990. 341. Vives-Corrons, J.-L.; Kuhl, W.; Pujades, M. A.; Beutler, E.: Molecular genetics of the glucose-6-phosphate dehydrogenase (G6PD) Mediterranean variant and description of a new G6PD mutant, G6PD Andalus(1361A). Am. J. Hum. Genet. 47: 575-579, 1990. 342. Vives-Corrons, J. L.; Feliu, E.; Pujades, M. A.; Cardellach, F.; Rozman, C.; Carreras, A.; Jou, J. M.; Vallespi, M. T.; Zuazu, F. J.: Severe glucose-6-phosphate dehydrogenase (G6PD) deficiency associated with chronic hemolytic anemia, granulocyte dysfunction, and increased susceptibility to infections: description of a new molecular variant (G6PD Barcelona). Blood 59: 428-434, 1982. 343. Vives-Corrons, J. L.; Pujades, A.: Heterogeneity of 'Mediterranean type' glucose-6-phosphate dehydrogenase (G6PD) deficiency in Spain and description of two new variants associated with favism. Hum. Genet. 60: 216-221, 1982. 344. Vives-Corrons, J. L.; Pujades, A.; Curia, M. D.: Caracterizacion molecular de la glucosa-6-fosfato deshidrogenasa (G6PD) en 24 casos de deficit enzimatico y descripcion de una nueva variante (G6PD-Betica). Sangre 25: 1049-1064, 1980. 345. Vives-Corrons, J. L.; Pujades, M. A.; Petit, J.; Colomer, D.; Corbella, M.; Aguilar i Bascompte, J. L.; Merino, A.: Chronic nonspherocytic hemolytic anemia (CNSHA) and glucose 6 phosphate dehydrogenase (G6PD) deficiency in a patient with familial amyloidotic polyneuropathy (FAP): molecular study of a new variant (G6PD Clinic) with markedly acidic pH optimum. Hum. Genet. 81: 161-164, 1989. 346. Vulliamy, T.; Beutler, E.; Luzzatto, L.: Variants of glucose-6-phosphate dehydrogenase are due to missense mutations spread throughout the coding region of the gene. Hum. Mutat. 2: 159-167, 1993. 347. Vulliamy, T.; Mason, P.; Luzzatto, L.: The molecular basis of glucose-6-phosphate dehydrogenase deficiency. Trends Genet. 8: 138-143, 1992. 348. Vulliamy, T.; Rovira, A.; Yusoff, N.; Colomer, D.; Luzzatto, L.; Vives-Corrons, J.-L.: Independent origin of single and double mutations in the human glucose 6-phosphate dehydrogenase gene. Hum. Mutat. 8: 311-318, 1996. 349. Vulliamy, T. J.: Personal Communication. London, England 1989. 350. Vulliamy, T. J.; D'Urso, M.; Battistuzzi, G.; Estrada, M.; Foulkes, N. S.; Martini, G.; Calabro, V.; Poggi, V.; Giordano, R.; Town, M.; Luzzatto, L.; Persico, M. G.: Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia. Proc. Nat. Acad. Sci. 85: 5171-5175, 1988. 351. Vulliamy, T. J.; Kaeda, J. S.; Ait-Chafa, D.; Mangerini, R.; Roper, D.; Barbot, J.; Mehta, A. B.; Athanassiou-Metaxa, M.; Luzzatto, L.; Mason, P. J.: Clinical and haematological consequences of recurrent G6PD mutations and a single new mutation causing chronic nonspherocytic haemolytic anaemia. Brit. J. Haemat. 101: 670-675, 1998. 352. Vulliamy, T. J.; Othman, A.; Town, M.; Nathwani, A.; Falusi, A. G.; Mason, P. J.; Luzzatto, L.: Polymorphic sites in the African population detected by sequence analysis of the glucose-6-phosphate dehydrogenase gene outline the evolution of the variants A and A-. Proc. Nat. Acad. Sci. 88: 8568-8571, 1991. 353. Vulliamy, T. J.; Wanachiwanawin, W.; Mason, P. J.; Luzzatto, L.: G6PD Mahidol, a common deficient variant in South East Asia is caused by a (163)glycine-to-serine mutation. Nucleic Acids Res. 17: 5868, 1989. 354. Vuopio, P.; Harkonen, M.; Helske, T.; Naeveri, H.: Red cell glucose-6-phosphate dehydrogenase deficiency in Finland: characterization of a new variant with severe enzyme deficiency. Scand. J. Haemat. 15: 145-152, 1975. 355. Vuopio, P.; Harkonen, M.; Johnsson, P.; Nuutinen, M.: Red cell glucose-phosphate dehydrogenase deficiency in Finland. Ann. Clin. Res. 5: 168-178, 1973. 356. Waitz, R.; Boivin, P.; Oberling, F.; Casenave, J. P.; North, M. L.; Mayer, S.: Variante Gd(-) Strasbourg de la glucose-6-phosphate dehydrogenase. Nouv. Rev. Franc. Hemat. 10: 312-314, 1970. 357. Wang, Y. M.; Patterson, J. H.; Van Eys, J.: The potential use of xylitol in glucose-6-phosphate dehydrogenase deficiency anemia. J. Clin. Invest. 50: 1421-1428, 1971. 358. Weimer, T. A.; Salzano, F. M.; Hutz, M. H.: Erythrocyte isozymes and hemoglobin types in a southern Brazilian population. J. Hum. Evol. 10: 319-328, 1981. 359. Weimer, T. A.; Schuler, L.; Beutler, E.; Salzano, F. M.: Gd(+) Laguna, a new rare glucose-6-phosphate dehydrogenase variant from Brazil. Hum. Genet. 65: 402-404, 1984. 360. Weinreich, J.; Busch, D.; Gottstein, U.; Schaefer, J.; Rohr, J.: Ueber zwei neue Faelle von hereditaerer nichtsphaerocytaerer haemolytischer Anaemie bei glucose-6-phosphat-dehydrogenase-Defekt in einer Nord Deutschen Familie. Klin. Wschr. 46: 146-149, 1968. 361. Welch, S. G.; McGregor, I. A.; Williams, K.: A new variant of human erythrocyte G6PD occurring at a high frequency amongst the population of two villages in The Gambia, West Africa. Hum. Genet. 40: 305-309, 1978. 362. Westring, D. W.; Pisciotta, A. V.: Anemia, cataracts, and seizures in patients with glucose-6-phosphate dehydrogenase deficiency. Arch. Intern. Med. 118: 385-390, 1966. 363. WHO: Nomenclature of glucose-6-phosphate dehydrogenase in man. Bull. WHO 36: 319-322, 1967. Note: See Also: Canad. Med. Assoc. J. 97: 422-424, 1967. 364. WHO: Scientific group on the standardization of procedures for the study of glucose-6-phosphate dehydrogenase. WHO Techn. Rep. (pub.) Ser. No. 366: 1967. 365. Wilson, W. W.: Congenital hemolytic anemia due to a deficiency of glucose 6-phosphate dehydrogenase. Rocky Mt. Med. J. 73: 160-162, 1976. 366. Witt, I.; Yoshioka, S.: Biochemical characterization of a glucose-6-phosphate dehydrogenase variant with favism: G-6-PD Zaehringen. Klin. Wschr. 50: 205-209, 1972. 367. Wong, P. W. K.; Shih, L.-Y.; Hsia, D. Y. Y.: Characterization of glucose-6-phosphate dehydrogenase among Chinese. Nature 208: 1323-1324, 1965. 368. Yermakov, N.; Tokarev, J.; Chernjak, N.; Schoenian, G.; Grieger, M.; Guckler, G.; Jacobasch, G.; Mahmudova, M.; Bahramov, S.: New stable mutant Gd(-) variants: G6PD Tashkent and G6PD Nucus: molecular basis of hereditary enzyme deficiency. Acta Biol. Med. Ger. 40: 559-562, 1981. 369. Yoshida, A.: Personal Communication. Duarte, Calif. 2/26/1996. 370. Yoshida, A.: Amino acid substitution (histidine to tyrosine) in a glucose-6-phosphatate dehydrogenase variant (G6PD Hektoen) associated with over-production. J. Mol. Biol. 52: 483-490, 1970. 371. Yoshida, A.: A single amino acid substitution (asparagine to aspartic acid) between normal (B plus) and the common Negro variant (A plus) of human glucose-6-phosphate dehydrogenase. Proc. Nat. Acad. Sci. 57: 835-840, 1967. 372. Yoshida, A.: Human glucose-6-phosphate dehydrogenase: purification and characterization of Negro type variant (A+) and comparison with normal enzyme (B+). Biochem. Genet. 1: 81-99, 1967. 373. Yoshida, A.; Baur, E. W.; Motulsky, A. G.: A Philippino glucose-6-phosphate dehydrogenase variant (G6PD Union) with enzyme deficiency and altered substrate specificity. Blood 35: 506-513, 1970. 374. Yoshida, A.; Beutler, E.: Human glucose-6-phosphate dehydrogenase variants: a supplementary tabulation. Ann. Hum. Genet. 41: 347-355, 1978. 375. Yoshida, A.; Beutler, E.; Motulsky, A. G.: Table of human glucose-6-phosphate dehydrogenase variants. Bull. WHO 45: 243-253, 1971. 376. Yoshida, A.; Stamatoyannopoulos, G.; Motulsky, A. G.: Negro variant of glucose-6-phosphate dehydrogenase deficiency (A-) in man. Science 155: 97-99, 1967. 377. Yoshida, A.; Takizawa, T.: The same extra FokI cleavage site exists in glucose-6-phosphate dehydrogenase variants A(+) and A(-). Am. J. Hum. Genet. 43: 131-133, 1988. 378. Yoshida, A.; Takizawa, T.; Prchal, J. T.: RFLP of the X chromosome-linked glucose-6-phosphate dehydrogenase locus in blacks. Am. J. Hum. Genet. 42: 872-876, 1988. 379. Zinkham, W. H.: A deficiency of glucose-6-phosphate dehydrogenase activity in lens from individuals with primaquine-sensitive erythrocytes. Bull. Johns Hopkins Hosp. 109: 206-216, 1961. 380. Zuo, L.; Chen, E.; Du, C. S.; Chang, C. N.; Chiu, D. T. Y.: Genetic study of Chinese G6PD variants by direct PCR sequencing. (Abstract) Blood 76 (suppl. 1): 51A, 1990.
[0025573]16161.Antignac, C.; Gros, F.; Geffriaud, C.; Kashtan, C.; Proesmans, W.; Tryggvason, K.; Gubler, M. C.: Alport syndrome (AS) and diffuse esophageal leiomyomatosis (DL): deletions in the 5-prime end and upstream region of the COL4A5 collagen gene. (Abstract) Am. J. Hum. Genet. 51 (suppl.): A7, 1992.
[0025574]16162.Antignac, C.; Knebelmann, B.; Drouot, L.; Gros, F.; Deschenes, G.; Hors-Cayla, M.-C.; Zhou, J.; Tryggvason, K.; Grunfeld, J.-P.; Broyer, M.; Gubler, M.-C.: Deletions in the COL4A5 collagen gene in X-linked Alport syndrome: characterization of the pathological transcripts in nonrenal cells and correlation with disease expression. J. Clin. Invest. 93: 1195-1207, 1994.
[0025575]16163.Antignac, C.; Zhou, J.; Sanak, M.; Cochat, P.; Roussel, B.; Deschenes, G.; Gros, F.; Knebelmann, B.; Hors-Cayla, M.-C.; Tryggvason, K.; Gubler, M.-C.: Alport syndrome and diffuse leiomyomatosis: deletions in the 5-prime end of the COL4A5 collagen gene. Kidney Int. 42: 1178-1183, 1992.
[0025576]16164.Barker, D. F.; Denison, J. C.; Atkin, C. L.; Gregory, M. C.: Common ancestry of three Ashkenazi-American families with Alport syndrome and COL4A5 R1677Q. Hum. Genet. 99: 681-684, 1997.
[0025577]16165.Barker, D. F.; Pruchno, C. J.; Jiang, X.; Atkin, C. L.; Stone, E. M.; Denison, J. C.; Fain, P. R.; Gregory, M. C.: A mutation causing Alport syndrome with tardive hearing loss is common in the western United States. Am. J. Hum. Genet. 58: 1157-1165, 1996.
[0025578]16166.Boye, E.; Vetrie, D.; Flinter, F.; Buckle, B.; Pihlajaniemi, T.; Hamalainen, E.-R.; Myers, J. C.; Bobrow, M.; Harris, A.: Major rearrangements in the alpha-5-(IV) collagen gene in three patients with Alport syndrome. Genomics 11: 1125-1132, 1991.
[0025579]16167.Guo, C.; Van Damme, B.; Vanrenterghem, Y.; Devriendt, K.; Cassiman, J.-J.; Marynen, P.: Severe Alport phenotype in a woman with two missense mutations in the same COL4A5 gene and preponderant inactivation of the X chromosome carrying the normal allele. J. Clin. Invest. 95: 1832-1837, 1995.
[0025580]16168.Campuzano, V.; Montermini, L.; Molto, M. D.; Pianese, L.; Cossee, M.; Cavalcanti, F.; Monros, E.; Rodius, F.; Duclos, F.; Monticelli, A.; Zara, F.; Canizares, J.; Koutnikova, H.; Bidichandani, S. I.; Gellera, C.; Brice, A.; Trouillas, P.; De Michele, G.; Filla, A.; De Frutos, R.; Palau, F.; Patel, P. I.; Di Donato, S.; Mandel, J. -L.; Cocozza, S.; Koenig, M.; Pandolfo, M.: Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271: 1423-1427, 1996.
[0025581]16169.Boyd, M.; Lanyon, W. G.; Connor, J. M.: Screening for molecular pathologies in Lesch-Nyhan syndrome. Hum. Mutat. 2: 127-130, 1993.
[0025582]16170.Brennand, J.; Chinault, A. C.; Konecki, D. S.; Melton, D. W.; Caskey, C. T.: Cloned cDNA sequences of the hypoxanthine-guanine phosphoribosyltransferase gene from a mouse neuroblastoma cell line found to have amplified genomic sequences. Proc. Nat. Acad. Sci. 79: 1950-1954, 1982.
[0025583]16171.Cariello, N. F.; Scott, J. K.; Kat, A. G.; Thilly, W. G.; Keohavong, P.: Resolution of a missense mutant in human genomic DNA by denaturing gradient gel electrophoresis and direct sequencing using in vitro DNA amplification: HPRT(Munich). Am. J. Hum. Genet. 42: 726-734, 1988.
[0025584]16172.Caskey, C. T.; Kruh, G. D.: The HPRT locus: review. Cell 16: 1-9, 1979.
[0025585]16173.Chinault, A. C.; Caskey, C. T.: The hypoxanthine phosphoribosyltransferase gene: a model for the study of mutation in mammalian cells. Prog. Nucleic Acids Res. Molec. Biol. 31: 317-465, 1984.
[0025586]16174.Cianfriglia, M.; Miggiano, V. C.; Meo, T.; Muller, H. J.; Muller, E.; Battistuzzi, G.: Evidence for synteny between the rabbit gene loci coding for HPRT, PGK and G6PD in mouse-rabbit somatic cell hybrids. (Abstract) Cytogenet. Cell Genet. 25: 142 only, 1979.
[0025587]16175.Colgin, L. M.; Hackmann, A. F. M.; Emond, M. J.; Monnat, R. J., Jr.: The unexpected landscape of in vivo somatic mutation in a human epithelial cell lineage. Proc. Nat. Acad. Sci. 99: 1437-1442, 2002.
[0025588]16176.Cox, R. P.; Krauss, M. R.; Balis, M. E.; Dancis, J.: Evidence for transfer of enzyme product as the basis of metabolic cooperation between tissue culture fibroblasts of Lesch-Nyhan disease and normal cells. Proc. Nat. Acad. Sci. 67: 1573-1579, 1970.
[0025589]16177.Dancis, J.; Yip, L. C.; Cox, R. P.; Piomelli, S.; Balis, M. E. : Disparate enzyme activity in erythrocytes and leukocytes: a variant of hypoxanthine phosphoribosyltransferase deficiency with an unstable enzyme. J. Clin. Invest. 52: 2068-2074, 1973.
[0025590]16178.Davidson, B. L.: Personal Communication. Ann Arbor, Mich. 1990.
[0025591]16179.Davidson, B. L.; Chin, S.-J.; Wilson, J. M.; Kelley, W. N.; Palella, T. D.: Hypoxanthine-guanine phosphoribosyltransferase: genetic evidence for identical mutations in two partially deficient subjects. J. Clin. Invest. 82: 2164-2167, 1988.
[0025592]16180.Davidson, B. L.; Pashmforoush, M.; Kelley, W. N.; Palella, T. D.: Genetic basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome (HPRT-Flint). Gene 63: 331-336, 1988.
[0025593]16181.Davidson, B. L.; Pashmforoush, M.; Kelley, W. N.; Palella, T. D.: Human hypoxanthine-guanine phosphoribosyltransferase deficiency: the molecular defect in a patient with gout (HPRT-Ashville). J. Biol. Chem. 264: 520-525, 1989.
[0025594]16182.Davidson, B. L.; Tarle, S. A.; Palella, T. D.; Kelley, W. N.: Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in 10 subjects determined by direct sequencing of amplified transcripts. J. Clin. Invest. 84: 342-346, 1989.
[0025595]16183.Davidson, B. L.; Tarle, S. A.; Van Antwerp, M.; Gibbs, D. A.; Watts, R. W. E.; Kelley, W. N.; Palella, T. D.: Identification of 17 independent mutations responsible for human hypoxanthineguanine phosphoribosyltransferase (HPRT) deficiency. Am. J. Hum. Genet. 48: 951-958, 1991.
[0025596]16184.De Gregorio, L.; Nyhan, W. L.; Serafin, E.; Chamoles, N. A.: An unexpected affected female patient in a classical Lesch-Nyhan family. Molec. Genet. Metab. 69: 263-268, 2000.
[0025597]16185.Demars, R. I.; Sarto, G. E.; Felix, J. S.; Benke, P.: Lesch-Nyhan mutation: prenatal detection with amniotic fluid cells. Science 164: 1303-1305, 1969.
[0025598]16186.Dempsey, J. L.; Morley, A. A.; Seshadri, R. S.; Emmerson, B. T.; Gordon, R.; Bhagat, C. I.: Detection of the carrier state for an X-linked disorder, the Lesch-Nyhan syndrome, by the use of lymphocyte cloning. Hum. Genet. 64: 288-290, 1983.
[0025599]16187.Dobrovic, A.; Gareau, P.; Seifert, A.-M.; Messing, K.; Bradley, W. E. C.: A HindIII RFLP for the HPRT pseudogene on chromosome 3 (HPRTP1). Nucleic Acids Res. 15: 1346, 1987.
[0025600]16188.Doetschman, T.; Gregg, R. G.; Maeda, N.; Hooper, M. L.; Melton, D. W.; Thompson, S.; Smithies, O.: Targetted correction of a mutant HPRT gene in mouse embryonic stem cells. Nature 330: 576-578, 1987.
[0025601]16189.Echard, G.; Gillois, M.: G6PD-PGK-GAL-HPRT synteny in the rabbit, Oryctolagus cunniculus. (Abstract) Cytogenet. Cell Genet. 25: 148-149, 1979.
[0025602]16190.Edwards, A.; Caskey, C. T.: Personal Communication. Houston, Tex. 8/1990.
[0025603]16191.Edwards, A.; Voss, H.; Rice, P.; Civitello, A.; Stegemann, J.; Schwager, C.; Zimmermann, J.; Erfle, H.; Caskey, C. T.; Ansorge, W. : Automated DNA sequencing of the human HPRT locus. Genomics 6: 593-608, 1990.
[0025604]16192.Emmerson, B. T.; Thompson, C. J.; Wallace, D. C.: Partial deficiency hypoxanthineguanine phosphoribosyltransferase: intermediate enzyme deficiency in heterozygote red cells. Ann. Intern. Med. 76: 285-288, 1972.
[0025605]16193.Engle, S. J.; Womer, D. E.; Davies, P. M.; Boivin, G.; Sahota, A.; Simmonds, H. A.; Stambrook, P. J.; Tischfield, J. A.: HPRT-APRT-deficient mice are not a model for Lesch-Nyhan syndrome. Hum. Mol. Genet. 5: 1607-1610, 1996.
[0025606]16194.Epstein, C. J.: Expression of the mammalian X chromosome before and after fertilization. Science 175: 1467-1468, 1972.
[0025607]16195.Ernst, M.; Zametkin, A. J.; Matochik, J. A.; Pascualvaca, D.; Jons, P. H.; Hardy, K.; Hankerson, J. G.; Doudet, D. J.; Cohen, R. M.: Presynaptic dopaminergic deficits in Lesch-Nyhan disease. New Eng. J. Med. 334: 1568-1572, 1996.
[0025608]16196.Fenwick, R. G., Jr.: Reversion of a mutation affecting the molecular weight of HGPRT: intragenic suppression and localization of X-linked genes. Somat. Cell Genet. 6: 477-494, 1980.
[0025609]16197.Fox, I. H.; Dwosh, I. L.; Marchant, P. J.; Lacroix, S.; Moore, M. R.; Omura, S.; Wyhofsky, V.: Hypoxanthine-guanine phosphoribosyltransferase: characterization of a mutant in a patient with gout. J. Clin. Invest. 56: 1239-1249, 1975.
[0025610]16198.Francke, U.; Bakay, B.; Connor, J. D.; Coldwell, J. G.; Nyhan, W. L.: Linkage relationships of X-linked enzymes glucose-6-phosphate dehydrogenase and hypoxanthine guanine phosphoribosyltransferase. Am. J. Hum. Genet. 26: 512-522, 1974.
[0025611]16199.Francke, U.; Felsenstein, J.; Gartler, S. M.; Migeon, B. R.; Dancis, J.; Seegmiller, J. E.; Bakay, B.; Nyhan, W. L.: The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease. Am. J. Hum. Genet. 28: 123-137, 1976.
[0025612]16200.Francke, U.; Felsenstein, J.; Gartler, S. M.; Nyhan, W. L.; Seegmiller, J. E.: Answer to criticism of Morton and Lalouel. (Letter) Am. J. Hum. Genet. 29: 307-310, 1977.
[0025613]16201.Gartler, S. M.; Francke, U.: Half-chromatid mutation: transmission in humans? Am. J. Hum. Genet. 27: 218-223, 1975.
[0025614]16202.Gibbs, R. A.; McFadyen, I. R.; Crawfurd, M. d'A.; de Muinck Keizer, E. E.; Headhouse-Benson, C. M.; Wilson, T. M.; Farrant, P. H.: First-trimester diagnosis of Lesch-Nyhan syndrome. Lancet II: 1180-1183, 1984.
[0025615]16203.Graham, G. W.; Aitken, D. A.; Connor, J. M.: Prenatal diagnosis by enzyme analysis in 15 pregnancies at risk for the Lesch-Nyhan syndrome. Prenatal Diag. 16: 647-651, 1996.
[0025616]16204.Greene, M. L.; Nyhan, W. L.; Seegmiller, J. E.: Hypoxanthine-guanine phosphoribosyltransferase deficiency and Xg blood group. Am. J. Hum. Genet. 22: 50-54, 1970.
[0025617]16205.Henderson, J. F.; Kelley, W. N.; Rosenbloom, F. M.; Seegmiller, J. E.: Inheritance of purine phosphoribosyltransferases in man. Am. J. Hum. Genet. 21: 61-70, 1969.
[0025618]16206.Hoefnagel, D.; Andrew, E. D.; Mireault, N. G.; Berndt, W. O.: Hereditary choreoathetosis, self-mutilation and hyperuricemia in young males. New Eng. J. Med. 273: 130-135, 1965.
[0025619]16207.Lloyd, K. G.; Hornykiewicz, O.; Davidson, L.; Shannak, K.; Farley, I.; Goldstein, M.; Shibuya, M.; Kelley, W. N.; Fox, I. H.: Biochemical evidence of dysfunction of brain neurotransmitters in the Lesch-Nyhan syndrome. New Eng. J. Med. 305: 1106-1111, 1981.
[0025620]16208.Migeon, B. R.; Der Kaloustian, V. M.; Nyhan, W. L.; Young, W. J.; Childs, B.: Xlinked hypoxanthine-guanine phosphoribosyl transferase deficiency: heterozygote has two clonal populations. Science 160: 425-427, 1968.
[0025621]16209.Morton, N. E.; Lalouel, J. M.: Genetic epidemiology of Lesch-Nyhan disease. (Letter) Am. J. Hum. Genet. 29: 304-307, 1977.
[0025622]16210.Nabholz, M.; Miggiano, V.; Bodmer, W.: Genetic analysis with human-mouse somatic cell hybrids. Nature 223: 358-363, 1969.
[0025623]16211.Nyhan, W. L.; Bakay, B.; Connor, J. D.; Marks, J. F.; Keele, D. K.: Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome. Proc. Nat. Acad. Sci. 65: 214-218, 1970.
[0025624]16212.Nyhan, W. L.; Olivier, W. J.; Lesch, M.: A familial disorder of uric acid metabolism and central nervous system function. J. Pediat. 67: 257-263, 1965.
[0025625]16213.Nyhan, W. L.; Wong, D. F.: New approaches to understanding Lesch-Nyhan disease. (Editorial) New Eng. J. Med. 334: 1602-1604, 1996.
[0025626]16214.Burwinkel, B.; Amat, L.; Gray, R. G. F.; Matsuo, N.; Muroya, K.; Narisawa, K.; Sokol, R. J.; Vilaseca, M. A.; Kilimann, M. W.: Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene. Hum. Genet. 102: 423-429, 1998.
[0025627]16215.Burwinkel, B.; Shin, Y. S.; Bakker, H. D.; Deutsch, J.; Lozano, M. J.: Maire, I.; Kilimann, M. W.: Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2). Hum. Molec. Genet. 5: 653-658, 1996.
[0025628]16216.Davidson, J. J.; Ozcelik, T.; Hamacher, C.; Willems, P. J.; Francke, U.; Kilimann, M. W.: cDNA cloning of a liver isoform of the phosphorylase kinase alpha subunit and mapping of the gene to Xp22.2-p22.1, the region of human X-linked liver glycogenosis. Proc. Nat. Acad. Sci. 89: 2096-2100, 1992.
[0025629]16217.Davisson, M. T.: X-linked genetic homologies between mouse and man. Genomics 1: 213-227, 1987.
[0025630]16218.Garibaldi, L. R.; Borrone, C.; De Martini, I.; Battistini, E.: Dextrothyroxine treatment of phosphorylase-kinase deficiency glycogenosis in four boys. Helv. Paediat. Acta 33: 435-444, 1978.
[0025631]16219.Goji, K.; Morishita, Y.; Kodama, S.; Takahashi, T.; Matsuo, T. : Lymphocyte phosphorylase kinase activities in the sex-linked form of liver phosphorylase kinase deficiency. Europ. J. Pediat. 143: 179-182, 1985.
[0025632]16220.Hendrickx, J.; Bosshard, N. U.; Willems, P.; Gitzelmann, R.: Clinical, biochemical and molecular findings in a patient with X-linked liver glycogenosis followed for 40 years. Europ. J. Pediat. 157: 919-923, 1998.
[0025633]16221.Hendrickx, J.; Coucke, P.; Bossuyt, P.; Wauters, J.; Raeymaekers, P.; Marchau, F.; Smit, G. P. A.; Stolte, I.; Sardharwalla, I. B.; Berthelot, J.; Van den Bergh, I.; Berger, R.; Van Broeckhoven, C.; Baussan, C.; Wapenaar, M.; Fernandes, J.; Willems, P. J.: X-linked liver glycogenosis: localization and isolation of a candidate gene. Hum. Molec. Genet. 2: 583-589, 1993.
[0025634]16222.Hendrickx, J.; Coucke, P.; Dams, E.; Lee, P.; Odievre, M.; Corbeel, L.; Fernandes, J. F.; Willems, P. J.: Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease. Hum. Molec. Genet. 4: 77-83, 1995.
[0025635]16223.Hendrickx, J.; Coucke, P.; Hors-Cayla, M.-C.; Smit, G. P. A.; Shin, Y. S.; Deutsch, J.; Smeitink, J.; Berger, R.; Lee, P.; Fernandes, J.; Willems, P. J.: Localization of a new type of X-linked liver glycogenosis to the chromosomal region Xp22 containing the liver alpha-subunit of phosphorylase kinase (PHKA2). Genomics 21: 620-625, 1994.
[0025636]16224.Hendrickx, J.; Coucke, P.; Raeymaekers, P.; Willems, P. J.: X-linked liver glycogenosis: localization and isolation of a strong candidate gene. (Abstract) Am. J. Hum. Genet. 51 (suppl.): A190 only, 1992.
[0025637]16225.Hendrickx, J.; Dams, E.; Coucke, P.; Lee, P.; Fernandes, J.; Willems, P. J.: X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase. Hum. Molec. Genet. 5: 649-652, 1996.
[0025638]16226.Hendrickx, J.; Lee, P.; Keating, J. P.; Carton, D.; Sardharwalla, I. B.; Tuchman, M.; Baussan, C.; Willems, P. J.: Complete genomic structure and mutational spectrum of PHKA2 in patients with X-linked liver glycogenosis type I and II. Am. J. Hum. Genet. 64: 1541-1549, 1999.
[0025639]16227.Hers, H.-G.; Van Hoof, F.; de Barsy, T.: Glycogen storage diseases.In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D.: The Metabolic Basis of Inherited Disease. New York: McGraw-Hill (pub.) (6th ed.) I: 1989. Pp. 425-452.
[0025640]16228.Hug, G.: Personal Communication. Cincinnati, Ohio 1974.
[0025641]16229.Hug, G.; Schubert, W. K.; Chuck, G.: Deficient activity of dephosphophosphorylase kinase and accumulation of glycogen in the liver. J. Clin. Invest. 48: 704-715, 1969.
[0025642]16230.Huijing, F.: Phosphorylase kinase deficiency. Biochem. Genet. 4: 187-194, 1970.
[0025643]16231.Huijing, F.: Phosphorylase kinase in leucocytes of normal subjects and of patients with glycogen-storage disease. Biochim. Biophys. Acta 148: 601-603, 1967.
[0025644]16232.Huijing, F.: Glycogen-storage disease type VIa: low phosphorylase kinase activity caused by a low enzyme-substrate affinity. Biochim. Biophys. Acta 206: 199-201, 1970.
[0025645]16233.Huijing, F.; Fernandez, J.: Liver glycogenosis and phosphorylase kinase deficiency. (Letter) Am. J. Hum. Genet. 22: 484-485, 1970.
[0025646]16234.Heidet, L.; Dahan, K.; Zhou, J.; Xu, Z.; Cochat, P.; Gould, J. D. M.; Leppig, K. A.; Proesmans, W.; Guyot, C.; Guillot, M.; Roussel, B.; Tryggvason, K.; Grunfeld, J.-P.; Gubler, M.-C.; Antignac, C.: Deletions of both alpha-5(IV) and alpha-6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumours. Hum. Molec. Genet. 4: 99-108, 1995.
[0025647]16235.Morton, C. C.; Nussenzweig, M. C.; Sousa, R.; Sorenson, G. D.; Pettengill, O. S.; Shows, T. B.: Mapping and characterization of an X-linked processed gene related to MYCL1. Genomics 4: 367-375, 1989.
[0025648]16236.Ambler, M. W.; Neave, C.; Singer, D. B.: X-linked recessive myotubular myopathy. II. Muscle morphology and human myogenesis. Hum. Path. 15: 1107-1120, 1984.
[0025649]16237.Ambler, M. W.; Neave, C.; Tutschka, B. G.; Pueschel, S. M.; Orson, J. M.; Singer, D. B.: X-linked recessive myotubular myopathy. I. Clinical and pathologic findings in a family. Hum. Path. 15: 566-574, 1984.
[0025650]16238.Askanas, V.; Engel, W. K.; Reddy, N. B.; Barth, P. G.; Bethlem, J.; Krauss, D. R.; Hibberd, M. E.; Lawrence, J. V.; Carter, L. S. : X-linked recessive congenital muscle fiber hypotrophy with central nuclei: abnormalities of growth and adenylate cyclase in muscle tissue cultures. Arch. Neurol. 36: 604-609, 1979.
[0025651]16239.Barth, P. G.; Dubowitz, V.: X-linked myotubular myopathy--a long-term follow-up study. Europ. J. Paediat. Neurol. 2: 49-56, 1998.
[0025652]16240.Ilyin, G. P.; Rialland, M.; Pigeon, C.; Guguen-Guillouzo, C.: cDNA cloning and expression analysis of new members of the mammalian F-box protein family. Genomics 67: 40-47, 2000.
[0025653]16241.Chan, A. M.-L.; Miki, T.; Meyers, K. A.; Aaronson, S. A.: A human oncogene of the RAS superfamily unmasked by expression cDNA cloning. Proc. Nat. Acad. Sci. 91: 7558-7562, 1994.
[0025654]16242.Drivas, G. T.; Shih, A.; Coutavas, E.; Rush, M. G.; D'Eustachio, P.: Characterization of four novel ras-like genes expressed in a human teratocarcinoma cell line. Molec. Cell. Biol. 10: 1793-1798, 1990.
[0025655]16243.Brugnera, E.; Georgiev, O.; Radtke, F.; Heuchel, R.; Baker, E.; Sutherland, G. R.; Schaffner, W.: Cloning, chromosomal mapping and characterization of the human metal-regulatory transcription factor MTF-1. Nucleic Acids Res. 22: 3167-3173, 1994.
[0025656]16244.Gunes, C.; Heuchel, R.; Georgiev, O.; Muller, K.-H.; Lichtlen, P.; Bluthmann, H.; Marino, S.; Aguzzi, A.; Schaffner, W.: Embryonic lethality and liver degeneration in mice lacking the metal-responsive transcriptional activator MTF-1. EMBO J. 17: 2846-2854, 1998.
[0025657]16245.Radtke, F.; Heuchel, R.; Georgiev, O.; Hergersberg, M.; Gariglio, M.; Dembic, Z.; Schaffner, W.: Cloned transcription factor MTF-1 activates the mouse metallothionein I promoter. EMBO J. 12: 1355-1362, 1993.
[0025658]16246.Westin, W.; Schaffner, W.: A zinc-responsive factor interacts with a metal-regulated enhancer element (MRE) of the mouse metallothionein-I gene. EMBO J. 7: 3763-3770, 1988.
[0025659]16247.Andersson, P.; McGuire, J.; Rubio, C.; Gradin, K.; Whitelaw, M. L.; Pettersson, S.; Hanberg, A.; Poellinger, L.: A constitutively active dioxin/aryl hydrocarbon receptor induces stomach tumors. Proc. Nat. Acad. Sci. 99: 9990-9995, 2002.
[0025660]16248.Ema, M.; Matsushita, N.; Sogawa, K.; Ariyama, T.; Inazawa, J.; Nemoto, T.; Ota, M.; Oshimura, M.; Fujii-Kuriyama, Y.: Human arylhydrocarbon receptor: functional expression and chromosomal assignment to 7p21. J. Biochem. 116: 845-851, 1994.
[0025661]16249.Le Beau, M. M.; Carver, L. A.; Espinosa, R., III; Schmidt, J. V.; Bradfield, C. A.: Chromosomal localization of the human AHR locus encoding the structural gene for the Ah receptor to 7p21-p15. Cytogenet. Cell Genet. 66: 172-176, 1994.
[0025662]16250.Micka, J.; Milatovich, A.; Menon, A.; Grabowski, G. A.; Puga, A.; Nebert, D. W.: Human Ah receptor (AHR) gene: localization to 7p15 and suggestive correlation of polymorphism with CYP1A1 inducibility. Pharmacogenetics 7: 95-101, 1997.
[0025663]16251.Shimizu, Y.; Nakatsuru, Y.; Ichinose, M.; Takahashi, Y.; Kume, H.; Mimura, J.; Fujii-Kuriyama, Y.; Ishikawa, T.: Benzo[a]pyrene carcinogenicity is lost in mice lacking the aryl hydrocarbon receptor. Proc. Nat. Acad. Sci. 97: 779-782, 2000.
[0025664]16252.Chen, P.; Hao, W.; Rife, L.; Wang, X. P.; Shen, D.; Chen, J.; Ogden, T.; Van Boemel, G. B.; Wu, L.; Yang, M.; Fong, H. K. W.: A photic visual cycle of rhodopsin regeneration is dependent on Rgr. Nature Genet. 28: 256-260, 2001.
[0025665]16253.Chen, X.-N.; Korenberg, J. R.; Jiang, M.; Shen, D.; Fong, H. K. W.: Localization of the human RGR opsin gene to chromosome 10q23. Hum. Genet. 97: 720-722, 1996.
[0025666]16254.Jiang, M.; Pandey, S.; Fong, H. K. W.: An opsin homologue in the retina and pigment epithelium. Invest. Ophthal. Visual Sci. 34: 3669-3678, 1993.
[0025667]16255.Morimura, H.; Saindelle-Ribeaudeau, F.; Berson, E. L.; Dryja, T. P.: Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa. (Letter) Nature Genet. 23: 393-394, 1999.
[0025668]16256.Shen, D.; Jiang, M.; Hao, W.; Tao, L.; Salazar, M.; Fong, H. K. W.: A human opsinrelated gene that encodes a retinaldehyde-binding protein. Biochemistry 33: 13117-13125, 1994.
[0025669]16257.Sasada, R.; Ono, Y.; Taniyama, Y.; Shing, Y.; Folkman, J.; Igarashi, K.: Cloning and expression of cDNA encoding human betacellulin, a new member of the EGF family. Biochem. Biophys. Res. Commun. 190: 1173-1179, 1993.
[0025670]16258.Watanabe, T.; Shintani, A.; Nakata, M.; Shing, Y.; Folkman, J.; Igarashi, K.; Sasada, R.: Recombinant human betacellulin: molecular structure, biological activities, and receptor interaction. J. Biol. Chem. 269: 9966-9973, 1994.
[0025671]16259.Asano, H.; Ishida, A.; Hasegawa, M.; Ono, T.; Yoshida, M. C.; Taniguchi, M.; Kanno, M.: The mouse Mel-18 'RING-finger' gene: genomic organization, promoter analysis and chromosomal assignment. DNA Seq. 3: 369-377, 1993.
[0025672]16260.Ishida, A.; Asano, H.; Hasegawa, M.; Koseki, H.; Ono, T.; Yoshida, M. C.; Taniguchi, M.; Kanno, M.: Cloning and chromosome mapping of the human Mel-18 gene which encodes a DNAbinding protein with a new 'RING-finger' motif. Gene 129: 249-255, 1993.
[0025673]16261.Tagawa, M.; Sakamoto, T.; Shigemoto, K.; Matsubara, H.; Tamura, Y.; Ito, T.; Nakamura, I.; Okitsu, A.; Imai, K.; Taniguchi, M.: Expression of novel DNA-binding protein with zinc finger structure in various tumor cells. J. Biol. Chem. 265: 20021-20026, 1990.
[0025674]16262.Hara, E.; Yamaguchi, T.; Nojima, H.; Ide, T.; Campisi, J.; Okayama, H.; Oda, K.: Idrelated genes encoding helix-loop-helix proteins are required for G1 progression and are repressed in senescent human fibroblasts. J. Biol. Chem. 269: 2139-2145, 1994.
[0025675]16263.Mathew, S.; Chen, W.; Murty, V. V. V. S.; Benezra, R.; Chaganti, R. S. K.: Chromosomal assignment of human ID1 and ID2 genes. Genomics 30: 385-387, 1995.
[0025676]16264.Chen, M. X.; McPartlin, A. E.; Brown, L.; Chen, Y. H.; Barker, H. M.; Cohen, P. T. W.: A novel human protein serine/threonine phosphatase, which possesses four tetratricopeptide repeat motifs and localizes to the nucleus. EMBO J. 13: 4278-4290, 1994.
[0025677]16265.Xu, X.; Lagercrantz, J.; Zickert, P.; Bajalica-Lagercrantz, S.; Zetterberg, A.: Chromosomal localization and 5-prime sequence of the human protein serine/threonine phosphatase 5-prime gene. Biochem. Biophys. Res. Commun. 218: 514-517, 1996.
[0025678]16266.Yong, W. H.; Ueki, K.; Chou, D.; Reeves, S. A.; von Deimling, A.; Gusella, J. F.; Mohrenweiser, H. W.; Buckler, A. J.; Louis, D. N. : Cloning of a highly conserved human protein serinethreonine phosphatase gene from the glioma candidate region on chromosome 19q13.3. Genomics 29: 533-536, 1995.
[0025679]16267.Breitbart, R. E.; Liang, C.; Smoot, L. B.; Laheru, D. A.; Mahdavi, V.; Nadal-Ginard, B.: A fourth human MEF2 transcription factor, hMEF2D, is an early marker of the myogenic lineage. Development 118: 1095-1106, 1993.
[0025680]16268.Hobson, G. M.; Krahe, R.; Garcia, E.; Siciliano, M. J.; Funanage, V. L.: Regional chromosomal assignments for four members of the MADS domain transcription enhancer factor 2 (MEF2) gene family to human chromosomes 15q26, 19p12, 5q14, and 1q12-q23. Genomics 29: 704-711, 1995.
[0025681]16269.Mao, Z.; Bonni, A.; Xia, F.; Nadal-Vicans, M.; Greenberg, M. E. : Neuronal activitydependent cell survival mediated by transcription factor MEF2. Science 286: 785-790, 1999.
[0025682]16270.Martin, J. F.; Miano, J. M.; Hustad, C. M.; Copeland, N. G.; Jenkins, N. A.; Olson, E. N.: A Mef2 gene that generates a muscle-specific isoform via alternative mRNA splicing. Molec. Cell. Biol. 14: 1647-1656, 1994.
[0025683]16271.Molkentin, J. D.; Black, B. L.; Martin, J. F.; Olson, E. N.: Cooperative activation of muscle gene expression by MEF2 and myogenic bHLH proteins. Cell 83: 1125-1136, 1995.
[0025684]16272.Naya, F. J.; Black, B. L.; Wu, H.; Bassel-Duby, R.; Richardson, J. A.; Hill, J. A.; Olson, E. N.: Mitochondrial deficiency and cardiac sudden death in mice lacking the MEF2A transcription factor. Nature Med. 15Oct, 2002. Note: Advance Electronic Publication.
[0025685]16273.Pollock, R.; Treisman, R.: Human SRF-related proteins: DNA-binding properties and potential regulatory targets. Genes Dev. 5: 2327-2341, 1991.
[0025686]16274.Suzuki, E.; Lowry, J.; Sonoda, G.; Testa, J. R.; Walsh, K.: Structures and chromosome locations of the human MEF2A gene and a pseudogene MEF2AP. Cytogenet. Cell Genet. 73: 244-249, 1996.
[0025687]16275.Yu, Y.-T.; Breitbart, R. E.; Smoot, L. B.; Lee, Y.; Mahdavi, V.; Nadal-Ginard, B.: Human myocyte-specific enhancer factor 2 comprises a group of tissue-restricted MADS box transcription factors. Genes Dev. 6: 1783-1798, 1992.
[0025688]16276.Youn, H.-D.; Sun, L.; Prywes, R.; Liu, J. O.: Apoptosis of T cells mediated by Ca(2+)-induced release of the transcription factor MEF2. Science 286: 790-793, 1999.
[0025689]16277.Krainc, D.; Haas, M.; Ward, D. C.; Lipton, S. A.; Bruns, G.; Leifer, D.: Assignment of human myocyte-specific enhancer binding factor 2C (hMEF2C) to human chromosome 5q14 and evidence that MEF2C is evolutionarily conserved. Genomics 29: 809-811, 1995.
[0025690]16278.Leifer, D.; Krainc, D.; Yu, Y.-T.; McDermott, J.; Breitbart, R. E.; Heng, J.; Neve, R. L.; Kosofsky, B.; Nadal-Ginard, B.; Lipton, S. A.: MEF2C, a MADS/MEF2-family transcription factor expressed in a laminar distribution in cerebral cortex. Proc. Nat. Acad. Sci. 90: 1546-1550, 1993.
[0025691]16279.Holmbeck, K.; Bianco, P.; Caterina, J.; Yamada, S.; Kromer, M.; Kuznetsov, S. A.; Mankani, M.; Robey, P. G.; Poole, A. R.; Pidoux, I.; Ward, J. M.; Birkedal-Hansen, H.: MT1-MMPdeficient mice develop dwarfism, osteopenia, arthritis, and connective tissue disease due to inadequate collagen turnover. Cell 99: 81-92, 1999.
[0025692]16280.Sato, H.; Takino, T.; Okada, Y.; Cao, J.; Shinagawa, A.; Yamamoto, E.; Seiki, M.: A matrix metalloproteinase expressed on the surface of invasive tumor cells. Nature 370: 61-65, 1994.
[0025693]16281.Takino, T.; Sato, H.; Yamamoto, E.; Seiki, M.: Cloning of a human gene potentially encoding a novel matrix metalloproteinase having a C-terminal transmembrane domain. Gene 155: 293-298, 1995.
[0025694]16282.McCright, B.; Rivers, A. M.; Audlin, S.; Virshup, D. M.: The B56 family of protein phosphatase 2A (PP2A) regulatory subunits encodes differentiation-induced phosphoproteins that target PP2A to both nucleus and cytoplasm. J. Biol. Chem. 271: 22081-22089, 1996.
[0025695]16283.Van Hoof, C.; Aly, M. S.; Garcia, A.; Cayla, X.; Cassiman, J. J.; Merlevede, W.; Goris, J.: Structure and chromosomal localization of the human gene of the phosphotyrosyl phosphatase activator (PTPA) of protein phosphatase 2A. Genomics 28: 261-272, 1995.
[0025696]16284.Lory, P.; Ophoff, R. A.; Nahmias, J.: Towards a unified nomenclature describing voltage-gated calcium channel genes. Hum. Genet. 100: 149-150, 1997.
[0025697]16285.Rosenfeld, M. R.; Wong, E.; Dalmau, J.; Manley, G.; Posner, J. B.; Sher, E.; Furneaux, H. M.: Cloning and characterization of a Lambert-Eaton myasthenic syndrome antigen. Ann. Neurol. 33: 113-120, 1993.
[0025698]16286.Taviaux, S.; Williams, M. E.; Harpold, M. M.; Nargeot, J.; Lory, P.: Assignment of human genes for beta-2 and beta-4 subunits of voltage-dependent Ca(2+) channels to chromosomes 10p12 and 2q22-q23. Hum. Genet. 100: 151-154, 1997.
[0025699]16287.Bontron, S.; Steimle, V.; Ucla, C.; Eibl, M. M.; Mach, B.: Two novel mutations in the MHC class II transactivator CIITA in a second patient from MHC class II deficiency complementation group A. Hum. Genet. 99: 541-546, 1997.
[0025700]16288.Dziembowska, M.; Fondaneche, M.-C.; Vedrenne, J.; Barbieri, G.; Wiszniewski, W.; Picard, C.; Cant, A. J.; Steimle, V.; Charron, D.; Alca-Loridan, C.; Fischer, A.; Lisowska-Grospierre, B.: Three novel mutations of the CIITA gene in MHC class II-deficient patients with a severe immunodeficiency. Immunogenetics 53: 821-829, 2002.
[0025701]16289.Harton, J. A.; Cressman, D. E.; Chin, K.-C.; Der, C. J.; Ting, J. P.-Y.: GTP binding by class II transactivator: role in nuclear import. Science 285: 1402-1405, 1999.
[0025702]16290.Harton, J. A.; Ting, J. P.-Y.: Class II transactivator: mastering the art of major histocompatibility complex expression. Molec. Cell. Biol. 20: 6185-6194, 2000.
[0025703]16291.Mach, B.; Steimle, V.; Martinez-Soria, E.; Reith, W.: Regulation of MHC class II genes: lessons from a disease. Annu. Rev. Immun. 14: 301-331, 1996.
[0025704]16292.Mahanta, S. K.; Scholl, T.; Yang, F.-C.; Strominger, J. L.: Transactivation by CIITA, the type II bare lymphocyte syndrome-associated factor, requires participation of multiple regions of the TATA box binding protein. Proc. Nat. Acad. Sci. 94: 6324-6329, 1997.
[0025705]16293.Raval, A.; Howcroft, T. K.; Weissman, J. D.; Kirshner, S.; Zhu, X.-S.; Yokoyama, K.; Ting, J.; Singer, D. S.: Transcriptional coactivator, CIITA, is an acetyltransferase that bypasses a promoter requirement for TAFII250. Molec. Cell 7: 105-115, 2001.
[0025706]16294.Reith, W.: Personal Communication. Geneva, Switzerland 5/30/1997.
[0025707]16295.Scholl, T.; Mahanta, S. K.; Strominger, J. L.: Specific complex formation between the type II bare lymphocyte syndrome-associated transactivators CIITA and RFX5. Proc. Nat. Acad. Sci. 94: 6330-6334, 1997.
[0025708]16296.Steimle, V.; Otten, L. A.; Zufferey, M.; Mach, B.: Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome). Cell 75: 135-146, 1993.
[0025709]16297.Zhu, X.-S.; Linhoff, M. W.; Li, G.; Chin, K.-C.; Maity, S. N.; Ting, J. P.-Y.: Transcriptional scaffold: CIITA interacts with NF-Y, RFX, and CREB to cause stereospecific regulation of the class II major histocompatibility complex promoter. Molec. Cell. Biol. 20: 6051-6061, 2000.
[0025710]16298.Emery, P.; Durand, B.; Mach, B.; Reith, W.: RFX proteins, a novel family of DNA binding proteins conserved in the eukaryotic kingdom. Nucleic Acids Res. 24: 803-807, 1996.
[0025711]16299.Pugliati, L.; Reith, W.; Fey, S.; Mach, B.: Mapping the RF-X gene, encoding a DNAbinding protein controlling HLA class II gene expression, to 19p13.(Abstract) Cytogenet. Cell Genet. 51: 1061 only, 1989.
[0025712]16300.Mizuta, M.; Inagaki, N.; Nemoto, Y.; Matsukura, S.; Takahashi, M.; Seino, S.: Synaptotagmin III is a novel isoform of rat synaptotagmin expressed in endocrine and neuronal cells. J. Biol. Chem. 269: 11675-11678, 1994.
[0025713]16301.Li, X.-J.; Wang, D.-Y.; Zhu, Y.; Guo, R.-J.; Wang, X.-D.; Lubomir, K.; Mukai, K.; Sasaki, H.; Yoshida, H.; Oka, T.; Machinami, R.; Shinmura, K.; Tanaka, M.; Sugimura, H.: Mxi1 mutations in human neurofibrosarcomas. Jpn. J. Cancer Res. 90: 740-746, 1999.
[0025714]16302.Prochownik, E. V.; Grove, L. E.; Deubler, D.; Zhu, X. L.; Stephenson, R. A.; Rohr, L. R.; Yin, X.; Brothman, A. R.: Commonly occurring loss and mutation of the MXI1 gene in prostate cancer. Genes Chromosomes Cancer 22: 295-304, 1998.
[0025715]16303.Schreiber-Agus, N.; Meng, Y.; Hoang, T.; Hou, H., Jr.; Chen, K.; Greenberg, R.; Cordon-Cardo, C.; Lee, H.-W.; DePinho, R. A.: Role of Mxi1 in ageing organ systems and the regulation of normal and neoplastic growth. Nature 393: 483-487, 1998.
[0025716]16304.Shapiro, D. N.; Valentine, V.; Eagle, L.; Yin, X.; Morris, S. W.; Prochownik, E. V.: Assignment of the human MAD and MXI1 genes to chromosomes 2p12-p13 and 10q24-q25. Genomics 23: 282-285, 1994.
[0025717]16305.Wechsler, D. S.; Hawkins, A. L.; Li, X.; Jabs, E. W.; Griffin, C. A.; Dang, C. V.: Localization of the human Mxi1 transcription factor gene (MXI1) to chromosome 10q24-q25. Genomics 21: 669-672, 1994.
[0025718]16306.Wechsler, D. S.; Shelly, C. A.; Dang, C. V.: Genomic organization of human MXI1, a putative tumor suppressor gene. Genomics 32: 466-470, 1996.
[0025719]16307.Zervos, A. S.; Gyuris, J.; Brent, R.: Mxi1, a protein that specifically interacts with Max to bind Myc-Max recognition sites. Cell 72: 223-232, 1993. Note: Erratum: Cell 79: 389 only, 1994.
[0025720]16308.Boie, Y.; Rushmore, T. H.; Darmon-Goodwin, A.; Grygorczyk, R.; Slipetz, D. M.; Metters, K. M.; Abramovitz, M.: Cloning and expression of a cDNA for the human prostanoid IP receptor. J. Biol. Chem. 269: 12173-12178, 1994.
[0025721]16309.Ishikawa, T.; Tamai, Y.; Rochelle, J. M.; Hirata, M.; Namba, T.; Sugimoto, Y.; Ichikawa, A.; Narumiya, S.; Taketo, M. M.; Seldin, M. F.: Mapping of the genes encoding mouse prostaglandin D, E, and F and prostacyclin receptors. Genomics 32: 285-288, 1996.
[0025722]16310.Murata, T.; Ushikubi, F.; Matsuoka, T.; Hirata, M.; Yamasaki, A.; Sugimoto, Y.; Ichikawa, A.; Aze, Y.; Tanaka, T.; Yoshida, N.; Ueno, A.; Oh-ishi, S.; Narumiya, S.: Altered pain perception and inflammatory response in mice lacking prostacyclin receptor. Nature 388: 678-682, 1997.
[0025723]16311.Ogawa, Y.; Tanaka, I.; Inoue, M.; Yoshitake, Y.; Isse, N.; Nakagawa, O.; Usui, T.; Itoh, H.; Yoshimasa, T.; Narumiya, S.; Nakao, K.: Structural organization and chromosomal assignment of the human prostacyclin receptor gene. Genomics 27: 142-148, 1995.
[0025724]16312.Hoffman, I.; Balling, R.: Chromosomal localization of the murine cadherin-11. Mammalian Genome 6: 304 only, 1995.
[0025725]16313.Okazaki, M.; Takeshita, S.; Kawai, S.; Kikuno, R.; Tsujimura, A.; Kudo, A.; Amann, E.: Molecular cloning and characterization of OB-cadherin, a new member of cadherin family expressed in osteoblasts. J. Biol. Chem. 269: 12092-12098, 1994.
[0025726]16314.Tanihara, H.; Sano, K.; Heimark, R. L.; St. John, T.; Suzuki, S. : Cloning of five human cadherins clarifies characteristic features of cadherin extracellular domain and provides further evidence for two structurally different types of cadherin. Cell Adhes. Commun. 2: 15-26, 1994.
[0025727]16315.Courvalin, J.-C.; Lassoued, K.; Worman, H. J.; Blobel, G.: Identification and characterization of autoantibodies against the nuclear envelope lamin B receptor from patients with primary biliary cirrhosis. J. Exp. Med. 172: 961-967, 1990.
[0025728]16316.Karl, H.: Die besondere Haufund von Merkmalstragern der Pelger-Huet-Kernanomalie der Leukozyten in Gelenau im Erzgebirge. Thesis: Humboldt Univ. Berlin, Germany , 1967.
[0025729]16317.Nachtsheim, H.: The Pelger-anomaly in man and rabbit. J. Hered. 41: 131-137, 1950.
[0025730]16318.Schuler, E.; Lin, F.; Worman, H. J.: Characterization of the human gene encoding LBR, an integral protein of the nuclear envelope inner membrane. J. Biol. Chem. 269: 11312-11317, 1994.
[0025731]16319.Christie, P. T.; Curley, A.; Nesbit, M. A.; Chapman, C.; Genet, S.; Harper, P. S.; Keeling, S. L.; Wilkie, A. O. M.; Winter, R. M.; Thakker, R. V.: Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda. J. Clin. Endocr. Metab. 86: 3233-3236, 2001.
[0025732]16320.Fiedler, J.; Bittner, M.; Puhl, W.; Brenner, R. E.: Mutations in the X-linked spondyloepiphyseal dysplasia tarda (SEDL) coding sequence are not a common cause of early primary osteoarthritis in men. (Letter) Clin. Genet. 62: 94-95, 2002.
[0025733]16321.Gecz, J.; Hillman, M. A.; Gedeon, A. K.; Cox, T. C.; Baker, E.; Mulley, J. C.: Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda. Genomics 69: 242-251, 2000.
[0025734]16322.Gedeon, A. K.; Colley, A.; Jamieson, R.; Thompson, E. M.; Rogers, J.; Sillence, D.; Tiller, G. E.; Mulley, J. C.; Gecz, J.: Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda. Nature Genet. 22: 400-404, 1999.
[0025735]16323.Gedeon, A. K.; Tiller, G. E.; Le Merrer, M.; Heuertz, S.; Tranebjaerg, L.; Chitayat, D.; Robertson, S.; Glass, I. A.; Savarirayan, R.; Cole, W. G.; Rimoin, D. L.; Kousseff, B. G.; Ohashi, H.; Zabel, B.; Munnich, A.; Gecz, J.; Mulley, J. C.: The molecular basis of X-linked spondyloepiphyseal dysplasia tarda. Am. J. Hum. Genet. 68: 1386-1397, 2001.
[0025736]16324.Grunebaum, E.; Arpaia, E.; MacKenzie, J. J.; Fitzpatrick, J.; Ray, P. N.; Roifman, C. M.: A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree. (Letter) J. Med. Genet. 38: 409-411, 2001.
[0025737]16325.Mumm, S.; Christie, P. T.; Finnegan, P.; Jones, J.; Dixon, P. H.; Pannett, A. A. J.; Harding, B.; Gottesman, G. S.; Thakker, R. V.; Whyte, M. P.: A five-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a six-generation Arkansas kindred. J. Clin. Endocr. Metab. 85: 3343-3347, 2000.
[0025738]16326.Mumm, S.; Zhang, X.; Vacca, M.; D'Esposito, M.; Whyte, M. P.: The sedlin gene for spondyloepiphyseal dysplasia tarda escapes X-inactivation and contains a non-canonical splice site. Gene 273: 285-293, 2001.
[0025739]16327.Takahashi, T.; Takahashi, I.; Tsuchida, S.; Oyama, K.; Komatsu, M.; Saito, H.; Takada, G.: An SEDL gene mutation in a Japanese kindred of X-linked spondyloepiphyseal dysplasia tarda. (Letter) Clin. Genet. 61: 319-320, 2002.
[0025740]16328.Tiller, G. E.; Hannig, V. L.; Dozier, D.; Carrel, L.; Trevarthen, K. C.; Wilcox, W. R.; Mundlos, S.; Haines, J. L.; Gedeon, A. K.; Gecz, J.: A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda. Am. J. Hum. Genet. 68: 1398-1407, 2001.
[0025741]16329.Whyte, M. P.; Gottesman, G. S.; Eddy, M. C.; McAlister, W. H. : X-linked recessive spondyloepiphyseal dysplasia tarda: clinical and radiographic evolution in a 6-generation kindred and review of the literature. Medicine 78: 9-25, 1999.
[0025742]16330.Montini, E.; Andolfi, G.; Caruso, A.; Buchner, G.; Walpole, S. M.; Mariani, M.; Consalez, G.; Trump, D.; Ballabio, A.; Franco, B. : Identification and characterization of a novel serinethreonine kinase gene from the Xp22 region. Genomics 51: 427-433, 1998.
[0025743]16331.Becker, M. A.; Heidler, S. A.; Bell, G. I.; Seino, S.; Le Beau, M. M.; Westbrook, C. A.; Neuman, W.; Shapiro, L. J.; Mohandas, T. K.; Roessler, B. J.; Palella, T. D.: Cloning of cDNAs for human phosphoribosylpyrophosphate synthetases 1 and 2 and X chromosome localization of PRPS1 and PRPS2 genes. Genomics 8: 555-561, 1990.
[0025744]16332.Braverman, N.; Lin, P.; Moebius, F. F.; Obie, C.; Moser, A.; Glossmann, H.; Wilcox, W. R.; Rimoin, D. L.; Smith, M.; Kratz, L.; Kelley, R. I.; Valle, D.: Mutations in the gene encoding 3-beta-hydroxysteroid-delta(8),delta(7)-isomerase cause X-linked dominant Conradi-Hunermann syndrome. Nature Genet. 22: 291-294, 1999.
[0025745]16333.Cho, S. Y.; Kim, J. H.; Paik, Y. K.: Cholesterol biosynthesis from lanosterol: differential inhibition of sterol delta 8-isomerase and other lanosterol-converting enzymes by tamoxifen. Molec. Cells 8: 233-239, 1998.
[0025746]16334.Clayton, P. T.; Kalter, D. C.; Atherton, D. J.; Besley, G. T.; Broadhead, D. M.: Peroxisomal enzyme deficiency in X-linked dominant Conradi-Hunermann syndrome. J. Inherit. Metab. Dis. 12: 358-360, 1989.
[0025747]16335.Derry, J. M. J.; Gormally, E.; Means, G. D.; Zhao, W.; Meindl, A.; Kelley, R. I.; Boyd, Y.; Herman, G. E.: Mutations in a delta(8)-delta(7) sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. Nature Genet. 22: 286-290, 1999.
[0025748]16336.Grange, D. K.; Kratz, L. E.; Braverman, N. E.; Kelley, R. I.: CHILD syndrome caused by deficiency of 3-beta-hydroxysteroid-delta-8,delta-7-isomerase. Am. J. Med. Genet. 90: 328-335, 2000.
[0025749]16337.Hanner, M.; Moebius, F. F.; Weber, F.; Grabner, M.; Striessnig, J.; Glossmann, H.: Phenylalkylamine Ca(2+) antagonist binding protein: molecular cloning, tissue distribution, and heterologous expression. J. Biol. Chem. 270: 7551-7557, 1995.
[0025750]16338.Has, C.; Bruckner-Tuderman, L.; Muller, D.; Floeth, M.; Folkers, E.; Donnai, D.; Traupe, H.: The Conradi-Hunermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism. Hum. Molec. Genet. 9: 1951-1955, 2000.
[0025751]16339.Holmes, R. D.; Wilson, G. N.; Hajra, A. K.: Peroxisomal enzyme deficiency in the Conradi-Hunerman (sic) form of chondrodysplasia punctata. New Eng. J. Med. (Letter) 316: 1608 only, 1987.
[0025752]16340.Ikegawa, S.; Ohashi, H.; Ogata, T.; Honda, A.; Tsukahara, M.; Kubo, T.; Kimizuka, M.; Shimode, M.; Hasegawa, T.; Nishimura, G.; Nakamura, Y.: Novel and recurrent EBP mutations in Xlinked dominant chondrodysplasia punctata. Am. J. Med. Genet. 94: 300-305, 2000.
[0025753]16341.Kelley, R. I.; Wilcox, W. G.; Smith, M.; Kratz, L. E.; Moser, A.; Rimoin, D. S.: Abnormal sterol metabolism in patients with Conradi-Hunermann-Happle syndrome and sporadic lethal chondrodysplasia punctata. Am. J. Med. Genet. 83: 213-219, 1999.
[0025754]16342.Rasmussen, U. B.; Wolf, C.; Mattei, M.-G.; Chenard, M.-P.; Bellocq, J.-P.; Chambon, P.; Rio, M.-C.; Basset, P.: Identification of a new interferon-alpha-inducible gene (p27) on human chromosome 14q32 and its expression in breast carcinoma. Cancer Res. 53: 4096-4101, 1993.
[0025755]16343.Lan, M. S.; Li, Q.; Lu, J.; Modi, W. S.; Notkins, A. L.: Genomic organization, 5-primeupstream sequence, and chromosomal localization of an insulinoma-associated intronless gene, IA-1. J. Biol. Chem. 269: 14170-14174, 1994.
[0025756]16344.Bennett, B. D.; Wang, Z.; Kuang, W.-J.; Wang, A.; Groopman, J. E.; Goeddel, D. V.; Scadden, D. T.: Cloning and characterization of HTK, a novel transmembrane tyrosine kinase of the EPH subfamily. J. Biol. Chem. 269: 14211-14218, 1994.
[0025757]16345.Berclaz, G.; Andres, A.-C.; Albrecht, D.; Dreher, E.; Ziemiecki, A.; Gusterson, B. A.; Crompton, M. R.: Expression of the receptor protein tyrosine kinase myk-1/htk in normal and malignant mammary epithelium. Biochem. Biophys. Res. Commun. 226: 869-875, 1996.
[0025758]16346.Gerety, S. S.; Wang, H. U.; Chen, Z.-F.; Anderson, D. J.: Symmetrical mutant phenotypes of the receptor EphB4 and its specific transmembrane ligand ephrin-B2 in cardiovascular development. Molec. Cell 4: 403-414, 1999.
[0025759]16347.Moynihan, T. P.; Ardley, H. C.; Leek, J. P.; Thompson, J.; Brindle, N. S.; Markham, A. F.; Robinson, P. A.: Characterization of a human ubiquitin-conjugating enzyme gene UBE2L3. Mammalian Genome 7: 520-525, 1996.
[0025760]16348.Flanagan, J. R.; Becker, K. G.; Ennist, D. L.; Gleason, S. L.; Driggers, P. H.; Levi, B.-Z.; Appella, E.; Ozato, K.: Cloning of a negative transcription factor that binds to the upstream conserved region of Moloney murine leukemia virus. Molec. Cell. Biol. 12: 38-44, 1992.
[0025761]16349.Hariharan, N.; Kelley, D. E.; Perry, R. P.: Delta, a transcription factor that binds to downstream elements in several polymerase II promoters, is a functionally versatile zinc finger protein. Proc. Nat. Acad. Sci. 88: 9799-9803, 1991.
[0025762]16350.Oei, S. L.; Shi, Y.: Transcription factor Yin Yang 1 stimulates poly(ADP-ribosyl)ation and DNA repair. Biochem. Biophys. Res. Commun. 284: 450-454, 2001.
[0025763]16351.Park, K.; Atchison, M. L.: Isolation of a candidate repressor/activator, NF-E1 (YY-1, delta), that binds to the immunoglobulin kappa 3-prime enhancer and the immunoglobulin heavy-chain micro-E1 site.. Proc. Nat. Acad. Sci. 88: 9804-9808, 1991.
[0025764]16352.Shi, Y.; Seto, E.; Chang, L.-S.; Shenk, T.: Transcriptional repression by YY1, a human GLI-Kruppel-related protein, and relief of repression by adenovirus E1A protein. Cell 67: 377-388, 1991.
[0025765]16353.Yao, Y.-L.; Dupont, B. R.; Ghosh, S.; Fang, Y.; Leach, R. J.; Seto, E.: Cloning, chromosomal localization and promoter analysis of the human transcription factor YY1. Nucleic Acids Res. 26: 3776-3783, 1998.
[0025766]16354.Zhu, W.; Lossie, A. C.; Camper, S. A.; Gumucio, D. L.: Chromosomal localization of the transcription factor YY1 in the mouse and human. Mammalian Genome 5: 234-236, 1994.
[0025767]16355.Hakimi, M.-A.; Bochar, D. A.; Schmiesing, J. A.; Dong, Y.; Barak, O. G.; Speicher, D. W.; Yokomori, K.; Shiekhattar, R.: A chromatin remodelling complex that loads cohesin onto human chromosomes. Nature 418: 994-998, 2002.
[0025768]16356.Berglund, E. O.; Murai, K. K.; Fredette, B.; Sekerkova, G.; Marturano, B.; Weber, L.; Mugnaini, E.; Ranscht, B.: Ataxia and abnormal cerebellar microorganization in mice with ablated contactin gene expression. Neuron 24: 739-750, 1999.
[0025769]16357.Nagasaki, K.; Manabe, T.; Hanzawa, H.; Maass, N.; Tsukada, T.; Yamaguchi, K.: Identification of a novel gene, LDOC1, down-regulated in cancer cell lines. Cancer Lett. 140: 227-234, 1999.
[0025770]16358.Nomura, N.; Miyajima, N.; Sazuka, T.; Tanaka, A.; Kawarabayasi, Y.; Sato, S.; Nagase, T.; Seki, N.; Ishikawa, K.; Tabata, S.: Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly samples cDNA clones from human immature myeloid cell line KG-1. DNA Res. 1: 27-35, 1994.
[0025771]16359.Kikuno, R.; Nagase, T.; Ishikawa, K.; Hirosawa, M.; Miyajima, N.; Tanaka, A.; Kotani, H.; Nomura, N.; Ohara, O.: Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. DNA Res. 6: 197-205, 1999.
[0025772]16360.Polsky, D.; Young, A. Z.; Busam, K. J.; Alani, R. M.: The transcriptional repressor of p16/Ink4a, Id1, is up-regulated in early melanomas. Cancer Res. 61: 6008-6011, 2001.
[0025773]16361.Dahl, N.; Hu, L. J.; Chery, M.; Fardeau, M.; Gilgenkrantz, S.; Nivelon-Chevallier, A.; Sidaner-Noisette, I.; Mugneret, F.; Gouyon, J. B.; Gal, A.; Kioschis, P.; d'Urso, M.; Mandel, J.-L.: Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region. Am. J. Hum. Genet. 56: 1108-1115, 1995.
[0025774]16362.Dahl, N.; Samson, F.; Thomas, N. S. T.; Hu, L. J.; Gong, W.; Herman, G.; Laporte, J.; Kioschis, P.; Poustka, A.; Mandel, J. L.: X linked myotubular myopathy (MTM1) maps between DSX304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684). J. Med. Genet. 31: 922-924, 1994.
[0025775]16363.Darnfors, C.; Borje Larsson, H. E.; Oldfors, A.; Kyllerman, M.; Gustavson, K.-H.; Bjursell, G.; Wahlstrom, J.: X-linked myotubular myopathy: a linkage study. Clin. Genet. 37: 335-340, 1990.
[0025776]16364.Darnfors, C.; Borje Larsson, H. E.; Oldfors, A.; Kyllerman, M.; Gustavson, K.-H.; Bjursell, G.; Wahlstrom, J.: X-linked myotubular myopathy: a linkage study.(Abstract) Cytogenet. Cell Genet. 51: 983, 1989.
[0025777]16365.de Gouyon, B.; Chatterjee, A.; Monaco, A.; Quaderi, N.; Brown, S. D. M.; Herman, G. E.: Comparative mapping on the mouse X chromosome defines a myotubular myopathy equivalent region. Mammalian Genome 7: 575-579, 1996.
[0025778]16366.de Gouyon, B. M.; Zhao, W.; Laporte, J.; Mandel, J.-L.; Metzenberg, A.; Herman, G. E.: Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy. Hum. Molec. Genet. 6: 1499-1504, 1997.
[0025779]16367.Engel, W. K.; Gold, G. N.; Karpati, B.: Type I fiber hypotrophy and central nuclei. Arch. Neurol. 18: 435-444, 1968.
[0025780]16368.Fidzianska, A.; Warlo, I.; Goebel, H. H.: Neonatal centronuclear myopathy with NCam decorated myotubes. Neuropediatrics 25: 158-161, 1994.
[0025781]16369.Guiraud-Chaumeil, C.; Vincent, M. C.; Laporte, J.; Fardeau, M.; Samson, F.; Mandel, J.-L.: A mutation in the MTM1 gene invalidates a previous suggestion of nonallelic heterogeneity in Xlinked myotubular myopathy. (Letter) Am. J. Hum. Genet. 60: 1542-1544, 1997.
[0025782]16370.Hammans, S. R.; Robinson, D. O.; Moutou, C.; Kennedy, C. R.; Dennis, N. R.; Hughes, P. J.; Ellison, D. W.: A clinical and genetic study of a manifesting heterozygote with X-linked myotubular myopathy. Neuromusc. Disord. 10: 133-137, 2000.
[0025783]16371.Hane, B. G.; Rogers, R. C.; Schwartz, C. E.: Germline mosaicism in X-linked myotubular myopathy. Clin. Genet. 56: 77-81, 1999.
[0025784]16372.Heckmatt, J. Z.; Sewry, C. A.; Hodes, D.; Dubowitz, V.: Congenital centronuclear (myotubular) myopathy: a clinical, pathological and genetic study in eight children. Brain 108: 941-964, 1985.
[0025785]16373.Herman, G. E.; Finegold, M.; de Gouyon, B.; Metzenberg, A.: Medical complications in long-term survivors with X-linked myotubular myopathy. J. Pediat. 134: 206-214, 1999.
[0025786]16374.Herman, G. E.; Kopacz, K.; Zhao, W.; Mills, P. L.; Metzenberg, A.; Das, S.: Characterization of mutations in fifty North American patients with X-linked myotubular myopathy. Hum. Mutat. 19: 114-121, 2002.
[0025787]16375.Janssen, E. A. M.; Hensels, G. W.; van Oost, B. A.; Hamel, B. C. J.; Kemp, S.; Baas, F.; Weber, J. W.; Barth, P. G.; Bolhuis, P. A.: The gene for X-linked myotubular myopathy is located in an 8 Mb region at the border of Xq27.3 and Xq28. Neuromusc. Disord. 4: 455-461, 1994.
[0025788]16376.Joseph, M.; Pai, G. S.; Holden, K. R.; Herman, G.: X-linked myotubular myopathy: clinical observations in ten additional cases. Am. J. Med. Genet. 59: 168-173, 1995.
[0025789]16377.Keppen, L. D.; Husain, M. M.; Woody, R. C.: X-linked myotubular myopathy: intrafamilial variability and normal muscle biopsy in a heterozygous female. Clin. Genet. 32: 95-99, 1987.
[0025790]16378.Kioschis, P.; Rogner, U. C.; Pick, E.; Klauck, S. M.; Heiss, N.; Siebenhaar, R.; Korn, B.; Coy, J. F.; Laporte, J.; Liechti-Gallati, S.; Poustka, A.: A 900-kb cosmid contig and 10 new transcripts within the candidate region for myotubular myopathy (MTM1). Genomics 33: 365-373, 1996.
[0025791]16379.Laporte, J.; Biancalana, V.; Tanner, S. M.; Kress, W.; Schneider, V.; Wallgren-Pettersson, C.; Herger, F.; Buj-Bello, A.; Blondeau, F.; Liechti-Gallati, S.; Mandel, J.-L.: MTM1 mutations in X-linked myotubular myopathy. Hum. Mutat. 15: 393-409, 2000.
[0025792]16380.Laporte, J.; Blondeau, F.; Buj-Bello, A.; Mandel, J.-L.: The myotubularin family: from genetic disease to phosphoinositide metabolism. Trends Genet. 17: 221-228, 2001.
[0025793]16381.Laporte, J.; Blondeau, F.; Buj-Bello, A.; Tentler, D.; Kretz, C.; Dahl, N.; Mandel, J.-L.: Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human. Hum. Molec. Genet. 7: 1703-1712, 1998.
[0025794]16382.Laporte, J.; Guiraud-Chaumeil, C.; Tanner, S. M.; Blondeau, F.; Hu, L.-J.; Vicaire, S.; Liechti-Gallati, S.; Mandel, J.-L.: Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy. Europ. J. Hum. Genet. 6: 325-330, 1998.
[0025795]16383.Laporte, J.; Guiraud-Chaumeil, C.; Vincent, M.-C.; Mandel, J.-L.; Tanner, S. M.; Liechti-Gallati, S.; Wallgren-Pettersson, C.; Dahl, N.; Kress, W.; Bolhuis, P. A.; Fardeau, M.; Samson, F.; Bertini, E.; members of the ENMC International Consortium on Myotubular Myopathy : Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. Hum. Molec. Genet. 6: 1505-1511, 1997.
[0025796]16384.Lehesjoki, A.-E.; Sankila, E.-M.; Miao, J.; Somer, M.; Salonen, R.; Rapola, J.; de la Chapelle, A.: X linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28. J. Med. Genet. 27: 288-291, 1990.
[0025797]16385.Liechti-Gallati, S.; Muller, B.; Grimm, T.; Kress, W.; Muller, C.; Boltshauser, E.; Moser, H.; Braga, S.: X-linked centronuclear myopathy: mapping the gene to Xq28. Neuromusc. Disord. 1: 239-245, 1991.
[0025798]16386.Meyers, K. R.; Golomb, H. M.; Hansen, J. L.; McKusick, V. A.: Familial neuromuscular disease with 'myotubes.'. Clin. Genet. 5: 327-337, 1974.
[0025799]16387.Walker, J. L.; Dixon, J.; Fenton, C. R.; Hungerford, J.; Lynch, S. A.; Stenhouses, S. A. R.; Christian, A.; Craig, I. W.: Two new mutations in exon 3 of the NDP gene: S73X and S101F associated with severe and less severe ocular phenotype, respectively. Hum. Mutat. 9: 53-56, 1997.
[0025800]16388.Lee, D. K.; Horikoshi, M.; Roeder, R. G.: Interaction of TFIID in the minor groove of the TATA element. Cell 67: 1241-1250, 1991.
[0025801]16389.Ho, M. F.; Chalmers, R. M.; Davis, M. B.; Harding, A. E.; Monaco, A. P.: A novel point mutation in the McLeod syndrome gene in neuroacanthocytosis. Ann. Neurol. 39: 672-675, 1996.
[0025802]16390.Wilson, R. B.; Kiledjian, M.; Shen, C.-P.; Benezra, R.; Zwollo, P.; Dymecki, S. M.; Desiderio, S. V.; Kadesch, T.: Repression of immunoglobulin enhancers by the helix-loop-helix protein Id: implications for B-lymphoid-cell development. Molec. Cell. Biol. 11: 6185-6191, 1991.
[0025803]16391.Warburg, M.: Norrie's disease: a new hereditary bilateral pseudotumour of the retina. Acta Ophthal. (Copenh) 39: 757-772, 1961.
[0025804]16392.Warburg, M.: Norrie's disease (atrofia bulborum hereditaria). Acta Ophthal. 41: 134-146, 1963.
[0025805]16393.Warburg, M.: Norrie's disease, a congenital progressive oculo-acoustico-cerebral degeneration. Acta Ophthal. 89 (suppl.): 1-147, 1966.
[0025806]16394.Warburg, M.; Hauge, M.; Sanger, R.: Norrie's disease and the Xg blood group system: linkage data. Acta Genet. Statist. Med. 15: 103-115, 1965.
[0025807]16395.Whitnall, S. E.; Norman, R. M.: Microphthalmia and the visual pathways: a case associated with blindness and imbecility, and sex-linked. Brit. J. Ophthal. 24: 229-244, 1940.
[0025808]16396.Wilson, W. M. G.: Congenital blindness (pseudoglioma) occurring as a sex-linked developmental anomaly. Canad. Med. Assoc. J. 60: 580-584, 1949.
[0025809]16397.Wolff, G.; Mayerova, A.; Wienker, T. F.; Atalianis, P.; Ioannou, P.; Warburg, M.: Clinical reinvestigation and linkage analysis in the family with Episkopi blindness (Norrie disease). J. Med. Genet. 29: 816-819, 1992.
[0025810]16398.Wong, F.; Goldberg, M. F.; Hao, Y.: Identification of a nonsense mutation at codon 128 of the Norrie's disease gene in a male infant. Arch. Ophthal. 111: 1553-1557, 1993.
[0025811]16399.Woodruff, G.; Newbury-Ecob, R.; Plaha, D. S.; Young, I. D.: Manifesting heterozygosity in Norrie's disease?. Brit. J. Ophthal. 77: 813-814, 1993.
[0025812]16400.Zhu, D.; Antonarakis, S. E.; Schmeckpeper, B. J.; Diergaarde, P. J.; Greb, A. E.; Maumenee, I. H.: Microdeletion in the X-chromosome and prenatal diagnosis in a family with Norrie disease. Am. J. Med. Genet. 33: 485-488, 1989.
[0025813]16401.Avner, P.; Bucan, M.; Arnaud, D.; Lehrach, H.; Rapp, U.: A-raf oncogene localizes on mouse X chromosome to region some 10-17 centimorgans proximal to hypoxanthine phosphoribosyltransferase gene. Somat. Cell Molec. Genet. 13: 267-272, 1987.
[0025814]16402.Beck, T. W.; Huleihel, M.; Gunnell, M.; Bonner, T. I.; Rapp, U. R.: The complete coding sequence of the human A-raf-1 oncogene and transforming activity of a human A-raf carrying retrovirus. Nucleic Acids Res. 15: 595-609, 1987.
[0025815]16403.Huebner, K.; ar-Rushdi, A.; Griffin, C. A.; Isobe, M.; Kozak, C.; Emanuel, B. S.; Nagarajan, L.; Cleveland, J. L.; Bonner, T. I.; Goldsborough, M. D.; Croce, C. M.; Rapp, U.: Actively transcribed genes in the raf oncogene group, located on the X chromosome in mouse and human. Proc. Nat. Acad. Sci. 83: 3934-3938, 1986.
[0025816]16404.Lee, J.-E.; Beck, T. W.; Brennscheidt, U.; DeGennaro, L. J.; Rapp, U. R.: The complete sequence and promoter activity of the human A-raf-1 gene (ARAF1). Genomics 20: 43-55, 1994.
[0025817]16405.Mark, G. E.; Seeley, T. W.; Shows, T. B.; Mountz, J. D.: Pks, a raf-related sequence in humans. Proc. Nat. Acad. Sci. 83: 6312-6316, 1986.
[0025818]16406.Popescu, N. C.; Mark, G. E.: Localization of the pKs gene, a raf related sequence on human chromosomes X and 7. Oncogene 4: 517-519, 1989.
[0025819]16407.Dowdy, S. F.; Fasching, C. L.; Araujo, D.; Lai, K.-M.; Livanos, E.; Weissman, B. E.; Stanbridge, E. J.: Suppression of tumorigenicity in Wilms' tumor by the p15.5-p14 region of chromosome 11. Science 254: 293-295, 1991.
[0025820]16408.Dowdy, S. F.; Lai, K.-M.; Weissman, B. E.; Matsui, Y.; Hogan, B. L. M.; Stanbridge, E. J.: The isolation and characterization of a novel cDNA demonstrating an altered mRNA level in nontumorigenic Wilms' microcell hybrid cells. Nucleic Acids Res. 19: 5763-5769, 1991.
[0025821]16409.Farmer, A. A.; Loftus, T. M.; Mills, A. A.; Sato, K. Y.; Neill, J. D.; Tron, T.; Yang, M.; Trumpower, B. L.; Stanbridge, E. J.: Extreme evolutionary conservation of QM, a novel c-Jun associated transcription factor. Hum. Molec. Genet. 3: 723-728, 1994.
[0025822]16410.Kaneko, K.; Kobayashi, H.; Onodera, O.; Miyatake, T.; Tsuji, S. : Genomic organization of a cDNA (QM) demonstrating an altered mRNA level in nontumorigenic Wilms' microcell hybrid cells and its localization to Xq28. Hum. Molec. Genet. 1: 529-533, 1992.
[0025823]16411.Korn, B.; Sedlacek, Z.; Manca, A.; Kioschis, P.; Konecki, D.; Lehrach, H.; Poustka, A.: A strategy for the selection of transcribed sequences in the Xq28 region. Hum. Molec. Genet. 1: 235-242, 1992.
[0025824]16412.van den Ouweland, A. M. W.; Verdijk, M.; Mannens, M. M. A. M.; van Oost, B. A.: The QM gene is X-linked and therefore not involved in suppression of tumorigenesis in Wilms' tumor. Hum. Molec. Genet. 90: 144-146, 1992.
[0025825]16413.Weissman, B. E.; Saxon, P. J.; Pasquale, S. R.; Jones, G. R.; Geiser, A. G.; Stanbridge, E. J.: Introduction of a normal human chromosome 11 into a Wilms' tumor cell line controls its tumorigenic expression. Science 236: 175-180, 1987.
[0025826]16414.Nishimoto, T.; Sekiguchi, T.; Kai, R.; Yamashita, K.; Takahashi, T.; Sekiguchi, M.: Large-scale selection and analysis of temperature-sensitive mutants for cell reproduction from BHK cells. Somat. Cell Genet. 8: 811-812, 1982.
[0025827]16415.O'Brien, T.; Tjian, R.: Functional analysis of the human TAFII250 N-terminal kinase domain. Molec. Cell 1: 905-911, 1998.
[0025828]16416.Ruppert, S.; Wang, E. H.; Tjian, R.: Cloning and expression of human TAF(II)250: a TBP-associated factor implicated in cell-cycle regulation. Nature 362: 175-179, 1993.
[0025829]16417.Schwartz, H. E.; Holmes, S.; Meiss, H. K.: Assignment of temperature-sensitive mutations of BHK cells to the X-chromosome. (Abstract) J. Cell Biol. 75: 393A, 1977.
[0025830]16418.Schwartz, H. E.; Moser, G. C.; Holmes, S.; Meiss, H. K.: Assignment of temperaturesensitive mutations of BHK cells to the X-chromosome. Somat. Cell Genet. 5: 217-224, 1979.
[0025831]16419.Sekiguchi, T.; Miyata, T.; Nishimoto, T.: Molecular cloning of the cDNA of human X chromosomal gene (CCG1) which complements the temperature-sensitive G(1) mutants, tsBN462 and ts13, of the BHK cell line. EMBO J. 7: 1683-1687, 1988.
[0025832]16420.Sekiguchi, T.; Nohiro, Y.; Nakamura, Y.; Hisamoto, N.; Nishimoto, T.: The human CCG1 gene, essential for progression of the G1 phase, encodes a 210-kilodalton nuclear DNA-binding protein. Molec. Cell. Biol. 11: 3317-3325, 1991.
[0025833]16421.Sekiguchi, T.; Yoshida, M. C.; Sekiguchi, M.; Nishimoto, T.: Isolation of a human X chromosome-linked gene essential for progression from G1 to S phase of the cell cycle. Exp. Cell Res. 169: 395-407, 1987.
[0025834]16422.Simchen, G.: Cell cycle mutants. Annu. Rev. Genet. 12: 161-191, 1978.
[0025835]16423.Slater, M. L.; Ozer, H. L.: Temperature-sensitive mutants of Balb-3T3 cells: description of a mutant affected in cellular and polyoma virus DNA synthesis. Cell 7: 289-295, 1976.
[0025836]16424.Starr, D. B.; Hawley, D. K.: TFIID binds in the minor groove of the TATA box. Cell 67: 1231-1240, 1991.
[0025837]16425.Abel, A.; Walcott, J.; Woods, J.; Duda, J.; Merry, D. E.: Expression of expanded repeat androgen receptor produces neurologic disease in transgenic mice. Hum. Molec. Genet. 10: 107-116, 2001.
[0025838]16426.Bailey, C. K.; Andriola, I. F. M.; Kampinga, H. H.; Merry, D. E. : Molecular chaperones enhance the degradation of expanded polyglutamine repeat androgen receptor in a cellular model of spinal and bulbar muscular atrophy. Hum. Molec. Genet. 11: 515-523, 2002.
[0025839]16427.Batch, J. A.; Williams, D. M.; Davies, H. R.; Brown, B. D.; Evans, B. A. J.; Hughes, I. A.; Patterson, M. N.: Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome. Hum. Molec. Genet. 1: 497-503, 1992.
[0025840]16428.Beitel, L. K.; Kazemi-Esfarjani, P.; Kaufman, M.; Lumbroso, R.; DiGeorge, A. M.; Killinger, D. W.; Trifiro, M. A.; Pinsky, L.: Substitution of arginine-839 by cysteine or histidine in the androgen receptor causes different receptor phenotypes in cultured cells and coordinate degrees of clinical androgen resistance. J. Clin. Invest. 94: 546-554, 1994.
[0025841]16429.Belsham, D. D.; Pereira, F.; Greenberg, C. R.; Liao, S.; Wrogemann, K.: Leu676-topro mutation of the androgen receptor causes complete androgen insensitivity syndrome in a large Hutterite kindred. Hum. Mutat. 5: 28-33, 1995.
[0025842]16430.Bevan, C. L.; Brown, B. B.; Davies, H. R.; Evans, B. A. J.; Hughes, I. A.; Patterson, M. N.: Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity syndrome. Hum. Molec. Genet. 5: 265-273, 1996.
[0025843]16431.Biancalana, V.; Serville, F.; Pommier, J.; Julien, J.; Hanauer, A.; Mandel, J. L.: Moderate instability of the trinucleotide repeat in spinobulbar muscular atrophy. Hum. Molec. Genet. 1: 255-258, 1992.
[0025844]16432.Boehmer, A. L. M.; Brinkmann, A. O.; Niermeijer, M. F.; Bakker, L.; Halley, D. J. J.; Drop, S. L. S.: Germ-line and somatic mosaicism in the androgen insensitivity syndrome: implications for genetic counseling. (Letter) Am. J. Hum. Genet. 60: 1003-1006, 1997.
[0025845]16433.Boehmer, A. L. M.; Brinkmann, A. O.; Nijman, R. M.; Verleun-Mooijman, M. C. T.; de Ruiter, P.; Niermeijer, M. F.; Drop, S. L. S.: Phenotypic variation in a family with partial androgen insensitivity syndrome explained by differences in 5-alpha dihydrotestosterone availability. J. Clin. Endocr. Metab. 86: 1240-1246, 2001.
[0025846]16434.Bouvattier, C.; Carel, J.-C.; Lecointre, C.; David, A.; Sultan, C.; Bertrand, A.-M., Morel, Y.; Chaussain, J.-L.: Postnatal changes of T, LH, and FSH in 46,XY infants with mutations in the AR gene. J. Clin. Endocr. Metab. 87: 29-32, 2002.
[0025847]16435.Brown, C. J.; Goss, S. J.; Lubahn, D. B.; Joseph, D. R.; Wilson, E. M.; French, F. S.; Willard, H. F.: Androgen receptor locus on the human X chromosome: regional localization to Xq11-12 and description of a DNA polymorphism. Am. J. Hum. Genet. 44: 264-269, 1989.
[0025848]16436.Brown, T. R.; Lubahn, D. B.; Wilson, E. M.; Joseph, D. R.; French, F. S.; Migeon, C. J.: Deletion of the steroid-binding domain of the human androgen receptor gene in one family with complete androgen insensitivity syndrome: evidence for further genetic heterogeneity in this syndrome. Proc. Nat. Acad. Sci. 85: 8151-8155, 1988.
[0025849]16437.Bruggenwirth, H. T.; Boehmer, A. L. M.; Ramnarain, S.; Verleun-Mooijman, M. C. T.; Satijn, D. P. E.; Trapman, J.; Grootegoed, J. A.; Brinkmann, A. O.: Molecular analysis of the androgenreceptor gene in a family with receptor-positive partial androgen insensitivity: an unusual type of intronic mutation. Am. J. Hum. Genet. 61: 1067-1077, 1997.
[0025850]16438.Buchanan, G.; Yang, M.; Harris, J. M.; Nahm, H. S.; Han, G.; Moore, N.; Bentel, J. M.; Matusik, R. J.; Horsfall, D. J.; Marshall, V. R.; Greenberg, N. M.; Tilley, W. D.: Mutations at the boundary of the hinge and ligand binding domain of the androgen receptor confer increased transactivation function. Molec. Endocr. 15: 46-56, 2001.
[0025851]16439.Butler, R.; Leigh, P. N.; McPhaul, M. J.; Gallo, J.-M.: Truncated forms of the androgen receptor are associated with polyglutamine expansion in X-linked spinal and bulbar muscular atrophy. Hum. Molec. Genet. 7: 121-127, 1998.
[0025852]16440.Ho, M. F.; Monaco, A. P.; Blonden, L. A. J.; van Ommen, G. J. B.; Affara, N. A.; Ferguson-Smith, M. A.; Lehrach, H.: Fine mapping of the McLeod locus (XK) to a 150-380-kb region in Xp21. Am. J. Hum. Genet. 50: 317-330, 1992.
[0025853]16441.Jung, H. H.; Hergersberg, M.; Kneifel, S.; Alkadhi, H.; Schiess, R.; Weigell-Weber, M.; Daniels, G.; Kollias, S.; Hess, K.: McLeod syndrome: a novel mutation, predominant psychiatric manifestations, and distinct striatal imaging findings. Ann. Neurol. 49: 384-392, 2001.
[0025854]16442.Malandrini, A.; Fabrizi, G. M.; Truschi, F.; Di Pietro, G.; Moschini, F.; Bartalucci, P.; Berti, G.; Salvadori, C.; Bucalossi, A.; Guazzi, G.: Atypical McLeod syndrome manifested as X-linked chorea-acanthocytosis, neuromyopathy and dilated cardiomyopathy: report of a family. J. Neurol. Sci. 124: 89-94, 1994.
[0025855]16443.Marsh, W. L.: Personal Communication. New York, N. Y. 11/13/1979.
[0025856]16444.Marsh, W. L.: The Kell blood groups and their relationship to chronic granulomatous disease.In: Antigens and Disease. Am. Assoc. Blood Banks Symposium. (pub.) 1977. Pp. 52-66.
[0025857]16445.Marsh, W. L.: Linkage relationship of the Xg and Xk loci. Cytogenet. Cell Genet. 22: 531-533, 1978.
[0025858]16446.Marsh, W. L.: Chronic granulomatous disease, the McLeod syndrome, and the Kell blood groups. Birth Defects Orig. Art. Ser. XIV(6A): 9-25, 1978.
[0025859]16447.Marsh, W. L.: Chronic granulomatous disease, Kx antigen and the Kell blood groups.In: Brewer, G. J.: Progress in Clinical and Biological Research: The Red Cell. New York: Alan R. Liss (pub.) 1978. Pp. 493-507.
[0025860]16448.Marsh, W. L.; Marsh, N. J.; Moore, A.; Symmans, W. A.; Johnson, C. L.; Redman, C. M.: Elevated serum creatine phosphokinase in subjects with McLeod syndrome. Vox Sang. 40: 403-411, 1981.
[0025861]16449.Marsh, W. L.; Oyen, R.; Nichols, M. E.: Kx antigen, the McLeod phenotype, and chronic granulomatous disease: further studies. Vox Sang. 31: 356-362, 1976.
[0025862]16450.Marsh, W. L.; Oyen, R.; Nichols, M. E.; Allen, F. H., Jr.: Chronic granulomatous disease and the Kell blood groups. Brit. J. Haemat. 29: 247-262, 1975.
[0025863]16451.Schwartz, S. A.; Marsh, W. L.; Symmans, A.; et al: 'New' clinical features of McLeod syndrome. (Abstract) Transfusion 22: 404 only, 1982.
[0025864]16452.Stanfield, G. M.; Horvitz, H. R.: The ced-8 gene controls the timing of programmed cell deaths in C. elegans. Molec. Cell 5: 423-433, 2000.
[0025865]16453.Supple, S. G.; Iland, H. J.; Barnett, M. H.; Pollard, J. D.: A spontaneous novel XK gene mutation in a patient with McLeod syndrome. Brit. J. Haemat. 115: 369-372, 2001.
[0025866]16454.Swash, M.; Schwartz, M. S.; Carter, N. D.; Heath, R.; Leak, M.; Rogers, K. L.: Benign X-linked myopathy with acanthocytes (McLeod syndrome): its relationship to X-linked muscular dystrophy. Brain 106: 717-733, 1983.
[0025867]16455.Symmans, W. A.; Sheperd, C. S.; Marsh, W. L.; Oyen, R.; Shohet, S. B.; Linehan, B. J.: Hereditary acanthocytosis associated with the McLeod phenotype of the Kell blood group system. Brit. J. Haemat. 42: 575-583, 1979.
[0025868]16456.Tippett, P.: Personal Communication. London, England 7/1981.
[0025869]16457.Wimer, B. M.; Marsh, W. L.; Taswell, H. F.: Clinical characteristics of the McLeod blood group phenotype. (Abstract) Am. Soc. Hemat., Boston , 12/1976.
[0025870]16458.Wimer, B. M.; Marsh, W. L.; Taswell, H. F.; Galey, W. R.: Haematological changes associated with the McLeod phenotype of the Kell blood group system. Brit. J. Haemat. 36: 219-224, 1977.
[0025871]16459.Adler, D. A.; Bressler, S. L.; Chapman, V. M.; Page, D. C.; Disteche, C. M.: Inactivation of the Zfx gene on the mouse X chromosome. Proc. Nat. Acad. Sci. 88: 4592-4595, 1991.
[0025872]16460.Chong, S. S.; Kristjansson, K.; Cota, J.; Handyside, A. H.; Hughes, M. R.: Preimplantation prevention of X-linked disease: reliable and rapid sex determination of single human cells by restriction analysis of simultaneously amplified ZFX and ZFY sequences. Hum. Molec. Genet. 2: 1187-1191, 1993.
[0025873]16461.Luoh, S.-W.; Jegalian, K.; Lee, A.; Chen, E. Y.; Ridley, A.; Page, D. C.: CpG islands in human ZFX and ZFY and mouse Zfx genes: sequence similarities and methylation differences. Genomics 29: 353-363, 1995.
[0025874]16462.Muller, G.; Schempp, W.: Mapping the human ZFX locus to Xp21.3 by in situ hybridization. Hum. Genet. 82: 82-84, 1989.
[0025875]16463.Page, D. C.; Disteche, C. M.; Simpson, E. M.; de la Chapelle, A.; Andersson, M.; Alitalo, T.; Brown, L. G.; Green, P.; Akots, G.: Chromosomal localization of ZFX--a human gene that escapes X inactivation--and its murine homologs. Genomics 7: 37-46, 1990.
[0025876]16464.Palmer, M. S.; Berta, P.; Sinclair, A. H.; Pym, B.; Goodfellow, P. N.: Comparison of human ZFY and ZFX transcripts. Proc. Nat. Acad. Sci. 87: 1681-1685, 1990.
[0025877]16465.Palmer, M. S.; Sinclair, A. H.; Berta, P.; Ellis, N. A.; Goodfellow, P. N.; Abbas, N. E.; Fellous, M.: Genetic evidence that ZFY is not the testis-determining factor. Nature 342: 937-939, 1989.
[0025878]16466.Scherer, G.; Schempp, W.; Baccichetti, C.; Lenzini, E.; Dagna Bricarelli, F.; Carbone, L. D. L.; Wolf, U.: Duplication of an Xp segment that includes the ZFX locus causes sex inversion in man. Hum. Genet. 81: 291-294, 1989.
[0025879]16467.Schneider-Gadicke, A.; Beer-Romero, P.; Brown, L. G.; Nussbaum, R.; Page, D. C.: ZFX has a gene structure similar to ZFY, the putative human sex determinant, and escapes X inactivation. Cell 57: 1247-1258, 1989.
[0025880]16468.Seibold, A.; Brabet, P.; Rosenthal, W.; Birnbaumer, M.: Structure and chromosomal localization of the human antidiuretic hormone receptor gene. Am. J. Hum. Genet. 51: 1078-1083, 1992.
[0025881]16469.Trousseau, A.: Polydipsia. Lecture LXV.In: Clinique Medicale de L'Hotel-Dieu de Paris. Vol. 2. Paris: J.-B. Balliere 1862. P. 607.
[0025882]16470.Tsukaguchi, H.; Matsubara, H.; Taketani, S.; Mori, Y.; Seido, T.; Inada, M.: Binding-, intracellular transport-, and biosynthesis-defective mutants of vasopressin type 2 receptor in patients with X-linked nephrogenic diabetes insipidus. J. Clin. Invest. 96: 2043-2050, 1995.
[0025883]16471.Uttley, W. S.; Thistlethwaite, D.: Failure to detect the carrier in congenital nephrogenic diabetes insipidus. Arch. Dis. Child. 47: 137-138, 1972.
[0025884]16472.van den Ouweland, A.; Markslag, P.; Knoers, N.; Ropers, H. H.; Poustka, A.; Jans, D.; Fahrenholz, F.; van Oost, B.: Colocalization of the locus for human nephrogenic diabetes insipidus and the vasopressin type-2 receptor gene in the Xq28 region. (Series) Miami Short Reports. Advances in Gene Technology: The Molecular Biology of Human Genetic Disease. New York: IRL Press (pub.) 1: 1991. Pp. 20 only.
[0025885]16473.van den Ouweland, A. M. W.; Dreesen, J. C. F. M.; Verdijk, M.; Knoers, N. V. A. M.; Monnens, L. A. H.; Rocchi, M.; van Oost, B. A. : Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus. Nature Genet. 2: 99-102, 1992.
[0025886]16474.van den Ouweland, A. M. W.; Knoop, M. T.; Knoers, V. V. A. M.; Markslag, P. W. B.; Rocchi, M.; Warren, S. T.; Ropers, H. H.; Fahrenholz, F.; Monnens, L. A.; van Oost, B. A. H.: Colocalization of the gene for nephrogenic diabetes insipidus (DIR) and the vasopressin type 2 receptor gene (AVPR2) in the Xq28 region. Genomics 13: 1350-1352, 1992.
[0025887]16475.van Lieburg, A. F.; Knoers, N. V. A. M.; Monnens, L. A. H.: Clinical presentation and follow-up of 30 patients with congenital nephrogenic diabetes insipidus. J. Am. Soc. Nephrol. 10: 1958-1964, 1999.
[0025888]16476.van Lieburg, A. F.; Verdijk, M. A. J.; Schoute, F.; Ligtenberg, M. J. L.; van Oost, B. A.; Waldhauser, F.; Dobner, M.; Monnens, L. A. H.; Knoers, N. V. A. M.: Clinical phenotype of nephrogenic diabetes insipidus in females heterozygous for a vasopressin type 2 receptor mutation. Hum. Genet. 96: 70-78, 1995.
[0025889]16477.Wildin, R. S.; Antush, M. J.; Bennett, R. L.; Schoof, J. M.; Scott, C. R.: Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus. Am. J. Hum. Genet. 55: 266-277, 1994.
[0025890]16478.Hata, A.; Matsuura, T.; Setoyama, C.; Shimada, K.; Yokoi, T.; Akaboshi, I.; Matsuda, I.: A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiency. Hum. Genet. 87: 28-32, 1991.
[0025891]16479.Masutani, C.; Sugasawa, K.; Yanagisawa, J.; Sonoyama, T.; Ui, M.; Enomoto, T.; Takio, K.; Tanaka, K.; van der Spek, P. J.; Bootsma, D.; Hoeijmakers, J. H. J.; Hanaoka, F.: Purification and cloning of a nucleotide excision repair complex involving the xeroderma pigmentosum group C protein and a human homologue of yeast RAD23. EMBO J. 13: 1831-1843, 1994.
[0025892]16480.Angelini, C.; Fanin, M.; Menegazzo, E.; Freda, M. P.; Duggan, D. J.; Hoffman, E. P.: Homozygous alpha-sarcoglycan mutation in two siblings: one asymptomatic and one steroid-responsive mild limb-girdle muscular dystrophy patient. Muscle Nerve 21: 769-775, 1998.
[0025893]16481.Derst, C.; Konrad, M.; Kockerling, A.; Karolyi, L.; Deschenes, G.; Daut, J.; Karschin, A.; Seyberth, H. W.: Mutations in the ROMK gene in antenatal Bartter syndrome are associated with impaired K(+) channel function. Biochem. Biophys. Res. Commun. 203: 641-645, 1997.
[0025894]16482.Derst, C.; Wischmeyer, E.; Preisig-Muller, R.; Spauschus, A.; Konrad, M.; Hensen, P.; Jeck, N.; Seyberth, H. W.; Daut, J.; Karschin, A. : A hyperprostaglandin E syndrome mutation in Kir1.1 (renal outer medullary potassium) channels reveals a crucial residue for channel function in Kir1.3 channels. J. Biol. Chem. 273: 23884-23891, 1998.
[0025895]16483.Ho, K.; Nichols, C. G.; Lederer, W. J.; Lytton, J.; Vassilev, P. M.; Kanazirska, M. V.; Hebert, S. C.: Cloning and expression of an inwardly rectifying ATP-regulated potassium channel. Nature 362: 31-38, 1993.
[0025896]16484.International Collaborative Study Group for Bartter-like Syndromes : Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity. Hum. Molec. Genet. 6: 17-26, 1997.
[0025897]16485.Krishnan, S. N.; Desai, T.; Ward, D. C.; Haddad, G. G.: Isolation and chromosomal localization of a human ATP-regulated potassium channel. Hum. Genet. 96: 155-160, 1995.
[0025898]16486.Shuck, M. E.; Bock, J. H.; Benjamin, C. W.; Tsai, T.-D.; Lee, K. S.; Slightom, J. L.; Bienkowski, M. J.: Cloning and characterization of multiple forms of the human kidney ROM-K potassium channel. J. Biol. Chem. 269: 24261-24270, 1994.
[0025899]16487.Simon, D. B.; Karet, F. E.; Rodriguez-Soriano, J.; Hamdan, J. H.; DiPietro, A.; Trachtman, H.; Sanjad, S. A.: Lifton, R. P.: Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K(+) channel, ROMK. Nature Genet. 14: 152-156, 1996.
[0025900]16488.Yano, H.; Philipson, L. H.; Kugler, J. L.; Tokuyama, Y.; Davis, E. M.; Le Beau, M. M.; Nelson, D. J.; Bell, G. I.; Takeda, J.: Alternative splicing of human inwardly rectifying K(+) channel ROMK1 mRNA. Molec. Pharm. 45: 854-860, 1994.
[0025901]16489.Campbell, H. D.; Fountain, S.; McLennan, I. S.; Berven, L. A.; Crouch, M. F.; Davy, D. A.; Hooper, J. A.; Waterford, K.; Chen, K.-S.; Lupski, J. R.; Ledermann, B.; Young, I. G.; Matthaei, K. I.: Fliih, a gelsolin-related cytoskeletal regulator essential for early mammalian embryonic development. Molec. Cell. Biol. 22: 3518-3526, 2002.
[0025902]16490.Campbell, H. D.; Fountain, S.; Young, I. G.; Claudianos, C.; Hoheisel, J. D.; Chen, K.-S.; Lupski, J. R.: Genomic structure, evolution, and expression of human FLII, a gelsolin and leucinerich-repeat family member: overlap with LLGL. Genomics 42: 46-54, 1997.
[0025903]16491.Connelly, M. A.; Zhang, H.; Kieleczawa, J.; Anderson, C. W.: The promoters for human DNA-PK(cs) (PRKDC) and MCM4: divergently transcribed genes located at chromosome 8 band q11. Genomics 47: 71-83, 1998.
[0025904]16492.Aly, A. M.; Hoyer, L. W.: Factor VIII-East Hartford (arginine1689 to cysteine) has procoagulant activity when separated from von Willebrand factor. J. Clin. Invest. 89: 1382-1387, 1992.
[0025905]16493.Antonarakis, S. E.; Copeland, K. L.; Carpenter, R. J., Jr.; Carta, C. A.; Hoyer, L. W.; Caskey, C. T.; Toole, J. J.; Kazazian, H. H., Jr.: Prenatal diagnosis of haemophilia A by factor VIII gene analysis. Lancet I: 1407-1409, 1985.
[0025906]16494.Antonarakis, S. E.; Kazazian, H. H.; Tuddenham, G. D.: Molecular etiology of factor VIII deficiency in hemophilia A. Hum. Mutat. 5: 1-22, 1995.
[0025907]16495.Antonarakis, S. E.; Rossiter, J. P.; Young, M.; Horst, J.; de Moerloose, P.; Sommer, S. S.; Ketterling, R. P.; Kazazian, H. H., Jr.; Negrier, C.; Vinciguerra, C.; Gitschier, J.; Goossens, M.; and 54 others : Factor VIII inversions in severe hemophilia A: results from an international consortium. Blood 86: 2206-2212, 1995.
[0025908]16496.Antonarakis, S. E.; Waber, P. G.; Kittur, S. D.; Patel, A. S.; Kazazian, H. H., Jr.; Mellis, M. A.; Counts, R. B.; Stamatoyannopoulos, G.; Bowie, E. J. W.; Fass, D. N.; Pittman, D. D.; Wozney, J. M.; Toole, J. J.: Hemophilia A: detection of molecular defects and of carriers by DNA analysis. New Eng. J. Med. 313: 842-848, 1985.
[0025909]16497.Antonarakis, S. E.; Youssoufian, H.; Kazazian, H. H.: Molecular genetics of hemophilia-A in man (factor VIII deficiency). Molec. Biol. Med. 4: 81-95, 1987.
[0025910]16498.Arai, M.; Higuchi, M.; Antonarakis, S. E.; Kazazian, H. H., Jr.; Phillips, J. A., III; Janco, R. L.; Hoyer, L. W.: Characterization of a thrombin cleavage site mutation (arg1689-to-cys) in the factor VIII gene of two unrelated patients with cross-reacting material-positive hemophilia A. Blood 75: 384-389, 1990.
[0025911]16499.Arai, M.; Inaba, H.; Higuchi, M.; Antonarakis, S. E.; Kazazian, H. H., Jr.; Fujimaki, M.; Hoyer, L. W.: Direct characterization of factor VIII in plasma: detection of a mutation altering a thrombin cleavage site (arginine372-to-histidine). Proc. Nat. Acad. Sci. 86: 4277-4281, 1989.
[0025912]16500.Arrants, J. E.; Jordan, P. H., Jr.; Newcomb, T. F.: Von Willebrand's disease: a cause for massive postoperative bleeding--report of a case. Ann. Surg. 156: 845-851, 1962.
[0025913]16501.Arveiler, B.; Vincent, A.; Mandel, J.-L.: Toward a physical map of the Xq28 region in man: linking color vision, G6PD, and coagulation factor VIII genes to an X-Y homology region. Genomics 4: 460-471, 1989.
[0025914]16502.Bardoni, B.; Sampietro, M.; Romano, M.; Crapanzano, M.; Mannucci, P. M.; Camerino, G.: Characterization of a partial deletion of the factor VIII gene in a haemophiliac with inhibitor. Hum. Genet. 79: 86-88, 1988.
[0025915]16503.Barker, D.; Schafer, M.; White, R.: Restriction sites containing CpG show a higher frequency of polymorphism in human DNA. Cell 36: 131-138, 1984.
[0025916]16504.Barrai, I.; Cann, H. M.; Cavalli-Sforza, L. L.: Segregation analysis of hemophilia A and B. (Letter) Am. J. Hum. Genet. 31: 226-227, 1979.
[0025917]16505.Barrai, I.; Cann, H. M.; Cavalli-Sforza, L. L.; de Nicola, P. : The effect of parental age on rates of mutation for hemophilia and evidence for differing mutation rates for hemophilia A and B. Am. J. Hum. Genet. 20: 175-196, 1968.
[0025918]16506.Barrow, E. M. S.; Graham, J. B.: Factor VIII. (Letter) Lancet I: 1312-1313, 1973.
[0025919]16507.Baty, B. J.; Drayna, D.; Leonard, C. O.; White, R.: Prenatal diagnosis of factor VIII deficiency to help with the management of pregnancy and delivery. (Letter) Lancet I: 207 only, 1986.
[0025920]16508.Becker, J.; Schwaab, R.; Moller-Taube, A.; Schwaab, U.; Schmidt, W.; Brackmann, H. H.; Grimm, T.; Olek, K.; Oldenburg, J.: Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies. Am. J. Hum. Genet. 58: 657-670, 1996.
[0025921]16509.Bennett, B.; Ratnoff, O. D.: Deletion of the carrier state for classic hemophilia. New Eng. J. Med. 7: 342-345, 1974.
[0025922]16510.Bennett, E.; Huehns, E. R.: Immunological differentiation of three types of hemophilia and identification of some female carriers. Lancet II: 956-958, 1970.
[0025923]16511.Berg, L.-P.; Wieland, K.; Millar, D. S.; Schlosser, M.; Wagner, M.; Kakkar, V. V.; Reiss, J.; Cooper, D. N.: Detection of a novel point mutation causing haemophilia A by PCR/direct sequencing of ectopically-transcribed factor VIII mRNA. Hum. Genet. 85: 655-658, 1990.
[0025924]16512.Bernardi, F.; Marchetti, G.; Bertagnolo, V.; Faggioli, L.; Volinia, S.; Patracchini, P.; Bartolai, S.; Vannini, F.; Felloni, L.; Rossi, L.; Panicucci, F.; Conconi, F.: RFLP analysis in families with sporadic hemophilia A: estimate of the mutation ratio in male and female gametes. Hum. Genet. 76: 253-256, 1987.
[0025925]16513.Bernardi, F.; Volinia, S.; Patracchini, P.; Gemmati, D.; Boninsegna, S.; Schwienbacher, C.; Marchetti, G.: A recurrent missense mutation (arg-to-gln) and a partial deletion in factor VIII gene causing severe haemophilia A. Brit. J. Haemat. 71: 271-276, 1989.
[0025926]16514.Bidichandani, S. I.; Shiach, C. R.; Lanyon, W. G.; Connor, J. M.: A novel splice donor mutation affecting position +3 in intron 6 of the factor VIII gene. Hum. Molec. Genet. 3: 651-653, 1994.
[0025927]16515.Biggs, R.; Rizza, C. R.: The sporadic case of haemophilia A. Lancet II: 431-433, 1976.
[0025928]16516.Bird, A. P.: DNA methylation and the frequency of CpG in animal DNA. Nucleic Acids Res. 8: 1499-1504, 1980.
[0025929]16517.Bloom, A. L.; Peake, I. R.: Molecular genetics of factor VIII and its disorders. Am. J. Path. 88: 319-340, 1977.
[0025930]16518.Bond, T. P.; Levin, W. C.; Celander, D. R.; Guest, M. M.: 'Mild hemophilia' affecting both males and females. New Eng. J. Med. 266: 220-223, 1962.
[0025931]16519.Boyer, S. H.; Siggers, D. C.; Krueger, L. J.: A caveat to protein replacement therapy for genetic disease. Immunologic implications of accurate molecular diagnosis. Lancet II: 654-659, 1973.
[0025932]16520.Briet, E.; Bakker, B.; Brocker-Vriends, A.: Somatic and germinal mosaicism for a deletion in the factor VIII gene. (Abstract) Brit. J. Haemat. 71 (suppl. 1): 1 only, 1989.
[0025933]16521.Greenough, W. T.; Klintsova, A. Y.; Irwin, S. A.; Galvez, R.; Bates, K. E.; Weiler, I. J.: Synaptic regulation of protein synthesis and the fragile X protein. Proc. Nat. Acad. Sci. 98: 7101-7106, 2001.
[0025934]16522.Griffiths, M. J.; Strachan, M. C.: A single lymphocyte culture for fragile X induction and prometaphase chromosome analysis. J. Med. Genet. 28: 837-839, 1991.
[0025935]16523.Haataja, R.; Vaisanen, M.-L.; Li, M.; Ryynanen, M.; Leisti, J. : The fragile X syndrome in Finland: demonstration of a founder effect by analysis of microsatellite haplotypes. Hum. Genet. 94: 479-483, 1994.
[0025936]16524.Hagerman, R. J.; Leehey, M.; Heinrichs, W.; Tassone, F.; Wilson, R.; Hills, J.; Grigsby, J.; Gage, B.; Hagerman, P. J.: Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 57: 127-130, 2001.
[0025937]16525.Hagerman, R. J.; Synhorst, D. P.: Mitral valve prolapse and aortic dilatation in the fragile X syndrome. Am. J. Med. Genet. 17: 123-131, 1984.
[0025938]16526.Hagerman, R. J.; Van Housen, K.; Smith, A. C. M.; McGavran, L. : Consideration of connective tissue dysfunction in the fragile X syndrome. Am. J. Med. Genet. 17: 111-121, 1984.
[0025939]16527.Hanzlik, A. J.; Osemlak-Hanzlik, M. M.; Hauser, M. A.; Kurnit, D. M.: A recombination-based assay demonstrates that the fragile X sequence is transcribed widely during development. Nature Genet. 3: 44-48, 1993.
[0025940]16528.Harvey, J.; Judge, C.; Wiener, S.: Familial X-linked mental retardation with an X chromosome abnormality. J. Med. Genet. 14: 46-50, 1977.
[0025941]16529.Hecht, F.; Cannizzaro, L. A.; Hecht, B. K.: Gene symbols for fragile sites: a proposal. (Letter) Hum. Genet. 82: 394, 1989.
[0025942]16530.Hecht, F.; Glover, T. W.: Antibiotics containing trimethoprim and the fragile X chromosome. (Letter) New Eng. J. Med. 308: 285-286, 1983.
[0025943]16531.Hecht, F.; Jacky, P. B.; Sutherland, G. R.: The fragile X chromosome: current methods. Am. J. Med. Genet. 11: 489-495, 1982.
[0025944]16532.Hinds, H. L.; Ashley, C. T.; Sutcliffe, J. S.; Nelson, D. L.; Warren, S. T.; Housman, D. E.; Schalling, M.: Tissue specific expression of FMR-1 provides evidence for a functional role in fragile X syndrome. Nature Genet. 3: 36-43, 1993.
[0025945]16533.Hirst, M.; Grewal, P.; Flannery, A.; Slatter, R.; Maher, E.; Barton, D.; Fryns, J.-P.; Davies, K.: Two new cases of FMR1 deletion associated with mental impairment. Am. J. Hum. Genet. 56: 67-74, 1995.
[0025946]16534.Hirst, M. C.; Knight, S. J. L.; Christodoulou, Z.; Grewal, P. K.; Fryns, J. P.; Davies, K. E.: Origins of the fragile X syndrome mutation. J. Med. Genet. 30: 647-650, 1993.
[0025947]16535.Hofker, M. H.; Bergen, A. A. B.; Skraastad, M. I.; Carpenter, N. J.; Veenema, H.; Connor, J. M.; Bakker, E.; van Ommen, G. J. B.; Pearson, P. L.: Efficient isolation of X chromosomespecific single copy probes from a cosmid library of a human X/hamster hybrid-cell line: mapping of new probes close to the locus for X-linked mental retardation. Am. J. Hum. Genet. 40: 312-328, 1987.
[0025948]16536.Howard-Peebles, P. N.; Stoddard, G. R.: Familial X-linked mental retardation with a marker X chromosome and its relationship to macroorchidism. Clin. Genet. 17: 125-128, 1980.
[0025949]16537.Hundscheid, R. D. L.; Sistermans, E. A.; Thomas, C. M. G.; Braat, D. D. M.; Straatman, H.; Kiemeney, L. A. L. M.; Oostra, B. A.; Smits, A. P. T.: Imprinting effect in premature ovarian failure confined to paternally inherited fragile X premutations. Am. J. Hum. Genet. 66: 413-418, 2000.
[0025950]16538.Hundscheid, R. D. L.; Thomas, C. M. G.; Braat, D. D. M.; Oostra, B. A.; Smits, A. P. T.: Reply to the letters from Murray et al. and Vianna-Morgante and Costa. (Letter) Am. J. Hum. Genet. 67: 256-258, 2000.
[0025951]16539.ISCN: An International System for Human Cytogenetic Nomenclature (1978). Cytogenet. Cell Genet. 21: 309-404, 1978.
[0025952]16540.Jacky, P. B.; Dill, F. J.: Expression in fibroblast culture of the satellited-X chromosome associated with familial sex-linked mental retardation. Hum. Genet. 53: 267-269, 1980.
[0025953]16541.Jacobs, P. A.: Personal Communication. Honolulu, Hawaii 1982.
[0025954]16542.Jacobs, P. A.: The fragile X syndrome. (Editorial) J. Med. Genet. 28: 809-810, 1991.
[0025955]16543.Jacobs, P. A.; Glover, T. W.; Mayer, M.; Fox, P.; Gerrard, J. W.; Dunn, H. G.; Herbst, D. S.: X-linked mental retardation: a study of 7 families. Am. J. Med. Genet. 7: 471-479, 1980.
[0025956]16544.Jacobs, P. A.; Hunt, P. A.; Mayer, M.; Wang, J.-C.; Boss, G. R.; Erbe, R. W.: Expression of the marker(X)(q28) in lymphoblastoid cell lines. Am. J. Hum. Genet. 34: 552-557, 1982.
[0025957]16545.Jakala, P.; Hanninen, T.; Ryynanen, M.; Laakso, M.; Partanen, K.; Mannermaa, A.; Soininen, H.: Fragile-X: neuropsychological test performance, CGG triplet repeat lengths, and hippocampal volumes. J. Clin. Invest. 100: 331-338, 1997.
[0025958]16546.Jenkins, E. C.; Brown, W. T.; Brooks, J.; Duncan, C. J.; Rudelli, R. D.; Wisniewski, H. M.: Experience with prenatal fragile X detection. Am. J. Med. Genet. 17: 215-239, 1984.
[0025959]16547.Jenkins, E. C.; Brown, W. T.; Duncan, C. J.; Brooks, J.: Demonstration of the fragile X chromosome in amniotic fluid cells. (Abstract) Clin. Res. 30: 292A, 1982.
[0025960]16548.Jin, P.; Warren, S. T.: Understanding the molecular basis of fragile X syndrome. Hum. Molec. Genet. 9: 901-908, 2000. 100. Johnson, V. P.; Carpenter, N. J.; Skorey, P. A.: Martin-Bell syndrome segregating in a large kindred with normal transmitting males: clinical, cytogenetic, and linkage study. Am. J. Med. Genet. 38: 275-282, 1991. 101. Kaiser-McCaw, B.; Hecht, F.; Cadien, J. D.; Moore, B. C.: Fragile X-linked mental retardation. Am. J. Hum. Genet. 7: 503-505, 1980. 102. Kenneson, A.; Zhang, F.; Hagedorn, C.. H.; Warren, S. T.: Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers. Hum. Molec. Genet. 10: 1449-1454, 2001. 103. Khalifa, M. M.; Reiss, A. L.; Migeon, B. R.: Methylation status of genes flanking the fragile site in males with the fragile-X syndrome: a test of the imprinting hypothesis. Am. J. Hum. Genet. 46: 744-753, 1990. 104. Khandjian, E. W.; Corbin, F.; Woerly, S.; Rousseau, F.: The fragile X mental retardation protein is associated with ribosomes. Nature Genet. 12: 91-93, 1996. 105. Kinnell, H. G.: Fragile-X disorder associated with antisocial personality. (Letter) Lancet II: 1104, 1982. 106. Kirchgessner, C. U.; Warren, S. T.; Willard, H. F.: X inactivation if the FMR1 fragile X mental retardation gene. J. Med. Genet. 32: 925-929, 1995. 107. Kirkilionis, A. J.; Chudley, A. E.; Greenberg, C. R.; Yan, D. L.; McGillivray, B.; Hamerton, J. L.: Transmission of the fra(X) haplotype from three nonpenetrant brothers to their affected grandsons. Am. J. Med. Genet. 43: 588-591, 1992. 108. Klauck, S. M.; Munstermann, E.; Bieber-Martig, B.; Ruhl, D.; Lisch, S.; Schmotzer, G.; Poustka, A.; Poustka, F.: Molecular genetic analysis of the FRM-1 gene in a large collection of autistic patients. Hum. Genet. 100: 224-229, 1997. 109. Knight, S. J. L.; Flannery, A. V.; Hirst, M. C.; Campbell, L.; Christodoulou, Z.; Phelps, S. R.; Pointon, J.; Middleton-Price, H. R.; Barnicoat, A.; Pembrey, M. E.; Holland, J.; Oostra, B. A.; Bobrow, M.; Davies, K. E.: Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Cell 74: 127-134, 1993. 110. Kooy, R. F.; Reyniers, E.; Verhoye, M.; Sijbers, J.; Bakker, C. E.; Oostra, B. A.; Willems, P. J.; Van Der Linden, A.: Neuroanatomy of the fragile X knockout mouse brain studied using in vivo high resolution magnetic resonance imaging. Europ. J. Hum. Genet. 7: 526-532, 1999. 111. Krawczun, M. S.; Jenkins, E. C.; Brown, W. T.: Analysis of the fragile-X chromosome: localization and detection of the fragile site in high resolution preparations. Hum. Genet. 69: 209-211, 1985. 112. Kruyer, H.; Mila, M.; Glover, G.; Carbonell, P.; Ballesta, F.; Estivill, X.: Fragile X syndrome and the (CGG)n mutation: two families with discordant MZ twins. Am. J. Hum. Genet. 54: 437-442, 1994. 113. Kunst, C. B.; Leeflang, E. P.; Iber, J. C.; Arnheim, N.; Warren, S. T.: The effect of FMR1 CGG repeat interruptions on mutation frequency as measured by sperm typing. J. Med. Genet. 34: 627-631, 1997. 114. Kunst, C. B.; Zerylnick, C.; Karickhoff, L.; Eichler, E.; Bullard, J.; Chalifoux, M.; Holden, J. J. A.; Torroni, A.; Nelson, D. L.; Warren, S. T.: FMR1 in global populations. Am. J. Hum. Genet. 58: 513-522, 1996. 115. Lachiewicz, A. M.; Dawson, D. V.; Spiridigliozzi, G. A.: Physical characteristics of young boys with fragile X syndrome: reasons for difficulties in making a diagnosis in young males. Am. J. Med. Genet. 92: 229-236, 2000. 116. Laggerbauer, B.; Ostareck, D.; Keidel, E.-M.; Ostareck-Lederer, A.; Fischer, U.: Evidence that fragile X mental retardation protein is a negative regulator of translation. Hum. Molec. Genet. 10: 329-338, 2001. 117. Laird, C. D.: Possible erasure of the imprint on a fragile X chromosome when transmitted by a male. Am. J. Med. Genet. 38: 391-395, 1991. 118. Laird, C. D.: Proposed mechanism of inheritance and expression of the human fragile X syndrome of mental retardation. Genetics 117: 587-599, 1987. 119. Laird, C. D.; Jaffe, E.; Karpen, G.; Lamb, M.; Nelson, R.: Fragile sites in human chromosomes as regions of late-replicating DNA. Trends Genet. 3: 274-281, 1987. 120. Laird, C. D.; Lamb, M. M.; Thorne, J. L.: Two progenitor cells for human oogonia inferred from pedigree data and the X-inactivation imprinting model of the fragile-X syndrome. Am. J. Hum. Genet. 46: 696-719, 1990. 121. Langenbeck, U.; Schmidtke, J.; Bartels, I.; Hansmann, I.; Knuppel, H.: Mean corpuscular hemoglobin is increased in Martin-Bell syndrome. Hum. Genet. 66: 365-366, 1984. 122. Larsen, L. A.; Armstrong, J. S. M.; Gronskov, K.; Hjalgrim, H.; Brondum-Nielsen, K.; Hasholt, L.; Norgaard-Pedersen, B.; Vuust, J. : Analysis of FMR1 (CGG)n alleles and FRAXA microsatellite haplotypes in the population of Greenland: implications for the population of the New World from Asia. Europ. J. Hum. Genet. 7: 771-777, 1999. 123. Larsen, L. A.; Vuust, J.; Nystad, M.; Evseeva, I.; Van Ghelue, M.; Tranebjaerg, L.: Analysis of FMR1 (CGG)n alleles and DXS548-FRAXAC1 haplotypes in three European circumpolar populations: traces of genetic relationship with Asia. Europ. J. Hum. Genet. 9: 724-727, 2001. 124. Laval, S. H.; Blair, H. J.; Hirst, M. C.; Davies, K. E.; Boyd, Y.: Mapping of FMR1, the gene implicated in fragile X-linked mental retardation, on the mouse X chromosome. Genomics 12: 818-821, 1992. 125. Lejeune, J.; Legrand, N.; Lafourcade, J.; Rethore, M.-O.; Raoul, O.; Maunoury, C.: Fragilite du chromosome X et effets de la trimethoprime. Ann. Genet. 25: 149-151, 1982. 126. Lewis, H. A.; Musunuru, K.; Jensen, K. B.; Edo, C.; Chen, H.; Darnell, R. B.; Burley, S. K.: Sequence-specific RNA binding by a Nova KH domain: implications for paraneoplastic disease and the fragile X syndrome. Cell 100: 323-332, 2000. 127. Limprasert, P.; Jaruratanasirikul, S.; Vasiknanonte, P.: Unilateral macroorchidism in fragile X syndrome. (Letter) Am. J. Med. Genet. 95: 516-517, 2000. 128. Linden, M. G.; Tassone, F.; Gane, L. W.; Hills, J. L.; Hagerman, R. J.; Taylor, A. K.: Compound heterozygous female with fragile X syndrome. Am. J. Med. Genet. 83: 318-321, 1999. 129. Loesch, D. Z.; Hay, D. A.: Clinical features and reproductive patterns in fragile X female heterozygotes. J. Med. Genet. 25: 407-414, 1988. 130. Lubs, H.; Travers, H.; Lujan, E.; Carroll, A.: A large kindred with X-linked mental retardation, marker X and macroorchidism. Am. J. Med. Genet. 17: 145-157, 1984. 131. Lubs, H. A.; Watson, M.; Breg, R.; Lujan, E.: Restudy of the original marker X family. Am. J. Med. Genet. 17: 133-144, 1984. 132. Lubs, H. A., Jr.: A marker X chromosome. Am. J. Hum. Genet. 21: 231-244, 1969. 133. Lugenbeel, K. A.; Peier, A. M.; Carson, N. L.; Chudley, A. E.; Nelson, D. L.: Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome. Nature Genet. 10: 483-485, 1995. 134. Malter, H. E.; Iber, J. C.; Willemsen, R.; de Graaff, E.; Tarleton, J. C.; Leisti, J.; Warren, S. T.; Oostra, B. A.: Characterization of the full fragile X syndrome mutation in fetal gametes. Nature Genet. 15: 165-169, 1997. 135. Mandel, J.-L.; Hagerman, R.; Froster, U.; Brown, W. T.; Jenkins, E. C.; Jacobs, P.; Turner, G.; Lubs, H.; Neri, G.: Fifth International Workshop on the Fragile X and XLinked Mental Retardation. Am. J. Med. Genet. 43: 5-27, 1992. 136. Martin, J. P.; Bell, J.: A pedigree of mental defect showing sex-linkage. J. Neurol. Psychiat. 6: 154-157, 1943. 137. Martin, R. H.; Lin, C. C.; Mathies, B. J.; Lowry, R. B.: X-linked mental retardation with macro-orchidism and marker-X chromosomes. Am. J. Med. Genet. 7: 433-441, 1980. 138. Mattei, J. F.; Mattei, M. G.; Aumeras, C.; Auger, M.; Giraud, F.: X-linked mental retardation with the fragile X: a study of 15 families. Hum. Genet. 59: 281-289, 1981. 139. McCabe, E. R. B.; de la Cruz, F.; Clapp, K.: Workshop on Fragile X: future research directions. Am. J. Med. Genet. 85: 317-322, 1999. 140. McConkie-Rosell, A.; Lachiewicz, A. M.; Spiridigliozzi, G. A.; Tarleton, J.; Schoenwald, S.; Phelan, M. C.; Goonewardena, P.; Ding, X.; Brown, W. T.: Evidence that methylation of the FMR-1 locus is responsible for variable phenotypic expression of the fragile X syndrome. Am. J. Hum. Genet. 53: 800-809, 1993. 141. Meijer, H.; de Graaff, E.; Merckx, D. M. L.; Jongbloed, R. J. E.; de Die-Smulders, C. E. M.; Engelen, J. J. M.; Fryns, J.-P.; Curfs, P. M. G.; Oostra, B. A.: A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome. Hum. Molec. Genet. 3: 615-620, 1994. 142. Meryash, D. L.; Cronk, C. E.; Sachs, B.; Gerald, P. S.: An anthropometric study of males with the fragile-X syndrome. Am. J. Med. Genet. 17: 159-174, 1984. 143. Mila, M.; Castellvi-Bel, S.; Gine, R.; Vazquez, C.; Badenas, C.; Sanchez, A.; Estivill, X.: A female compound heterozygote (pre- and full mutation) for the CGG FMR1 expansion. Hum. Genet. 98: 419-421, 1996. 144. Mila, M.; Sanchez, A.; Badenas, C.; Brun, C.; Jimenez, D.; Villa, M. P.; Castellvi-Bel, S.; Estivill, X.: Screening for FMR1 and FMR2 mutations in 222 individuals from Spanish special schools: identification of a case of FRAXE-associated mental retardation. Hum. Genet. 100: 503-507, 1997. 145. Mingroni-Netto, R. C.; Angeli, C. B.; Auricchio, M. T. B. M.; Leal-Mesquita, E. R.; Ribeiro-dos-Santos, A. K. C.; Ferrari, I.; Hutz, M. H.; Salzano, F. M.; Hill, K.; Hurtado, A. M.; Vianna-Morgante, A. M.: Distribution of CGG repeats and FRAXAC1/DXS548 alleles in South American populations. Am. J. Med. Genet. 111: 243-252, 2002. 146. Morales, J.; Hiesinger, P. R.; Schroeder, A. J.; Kume, K.; Verstreken, P.; Jackson, F. R.; Nelson, D. L.; Hassan, B. A.: Drosophila fragile X protein, DFXR, regulates neuronal morphology and function in the brain. Neuron 34: 961-972, 2002. 147. Morton, J. E.; Bundey, S.; Webb, T. P.; MacDonald, F.; Rindl, P. M.; Bullock, S.: Fragile X syndrome is less common than previously estimated. J. Med. Genet. 34: 1-5, 1997. 148. Morton, N. E.; Macpherson, J. N.: Population genetics of the fragile-X syndrome: multiallelic model for the FMR1 locus. Proc. Nat. Acad. Sci. 89: 4215-4217, 1992. 149. Mulley, J. C.; Yu, S.; Gedeon, A. K.; Donnelly, A.; Turner, G.; Loesch, D.; Chapman, C. J.; Gardner, R. J. M.; Richards, R. I.; Sutherland, G. R.: Experience with direct molecular diagnosis of fragile X. J. Med. Genet. 29: 368-374, 1992. 150. Mulligan, L. M.; Phillips, M. A.; Forster-Gibson, C. J.; Beckett, J.; Partington, M. W.; Simpson, N. E.; Holden, J. J. A.; White, B. N.: Genetic mapping of DNA segments relative to the locus for the fragile-X syndrome at Xq27.3. Am. J. Hum. Genet. 37: 463-472, 1985. 151. Murray, A.; Ennis, S.; Morton, N.: No evidence for parent of origin influencing premature ovarian failure in fragile X premutation carriers. (Letter) Am. J. Hum. Genet. 67: 253-254, 2000. 152. Murray, A.; Webb, J.; Grimley, S.; Conway, G.; Jacobs, P.: Studies of FRAXA and FRAXE in women with premature ovarian failure. J. Med. Genet. 35: 637-640, 1998. 153. Nolin, S. L.; Lewis, F. A., III; Ye, L. L.; Houck, G. E., Jr.; Glicksman, A. E.; Limprasert, P.; Li, S. Y.; Zhong, N.; Ashley, A. E.; Feingold, E.; Sherman, S. L.; Brown, W. T.: Familial transmission of the FMR1 GCC repeat. Am. J. Hum. Genet. 59: 1252-1261, 1996. 154. Nussbaum, R. L.; Ledbetter, D. H.: Fragile X syndrome: a unique mutation in man. Annu. Rev. Genet. 20: 109-145, 1986. 155. Oberle, I.; Rousseau, F.; Heitz, D.; Kretz, C.; Devys, D.; Hanauer, A.; Boue, J.; Bertheas, M. F.; Mandel, J. L.: Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 252: 1097-1102, 1991. 156. Oostra, B. A.; Chiurazzi, P.: The fragile X gene and its function. Clin. Genet. 60: 399-408, 2001. 157. Opitz, J. M.; Sutherland, G. R.: International workshop on the fragile X and X-linked mental retardation. Am. J. Med. Genet. 17: 5-94, 1984. 158. Opitz, J. M.; Westphal, J. M.; Daniel, A.: Discovery of a connective tissue dysplasia in the Martin-Bell syndrome. Am. J. Med. Genet. 17: 101-109, 1984. 159. Oudet, C.; Mornet, E.; Serre, J. L.; Thomas, F.; Lentes-Zengerling, S.; Kretz, C.; Deluchat, C.; Tejada, I.; Boue, J.; Boue, A.; Mandel, J. L.: Linkage disequilibrium between the fragile X mutation and two closely linked CA repeats suggests that fragile X chromosomes are derived from a small number of founder chromosomes. Am. J. Hum. Genet. 52: 297-304, 1993. 160. Park, V.; Howard-Peebles, P.; Sherman, S.; Taylor, A.; Wulfsberg, E.: Policy statement: American College of Medical Genetics. Fragile X syndrome: diagnostic and carrier testing. Am. J. Med. Genet. 53: 380-381, 1994. 161. Parrish, J. E.; Oostra, B. A.; Verkerk, A. J. M. H.; Richards, C. S.; Reynolds, J.; Spikes, A. S.; Shaffer, L. G.; Nelson, D. L. : Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE. Nature Genet. 8: 229-235, 1994. 162. Peier, A. M.; McIlwain, K. L.; Kenneson, A.; Warren, S. T.; Paylor, R.; Nelson, D. L.: (Over)correction of FMR1 deficiency with YAC transgenics: behavioral and physical features. Hum. Molec. Genet. 9: 1145-1159, 2000. 163. Pellissier, M.-C.; Voelckel, M.-A.; Piquet, C.; Mattei, M.-G.; Mattei, J.-F.: Transmission of mental retardation with fragile X site by two normal transmitter brothers. Am. J. Med. Genet. 38: 367-369, 1991. 164. Pembrey, M. E.; Winter, R. M.; Davies, K. E.: A premutation that generates a defect at crossing over explains the inheritance of fragile X mental retardation. Am. J. Med. Genet. 21: 709-717, 1985. 165. Pieretti, M.; Zhang, F.; Fu, Y.-H.; Warren, S. T.; Oostra, B. A.; Caskey, C. T.; Nelson, D. L.: Absence of expression of the FMR-1 gene in fragile X syndrome. Cell 66: 817-822, 1991. 166. Poustka, A.; Dietrich, A.; Langenstein, G.; Toniolo, D.; Warren, S. T.; Lehrach, H.: Physical map of human Xq27-qter: localizing the region of the fragile X mutation. Proc. Nat. Acad. Sci. 88: 8302-8306, 1991. 167. Purrello, M.; Alhadeff, B.; Esposito, D.; Szabo, P.; Rocchi, M.; Truett, M.; Masiarz, F.; Siniscalco, M.: The human genes for hemophilia A and hemophilia B flank the X chromosome fragile site at Xq27.3. EMBO J. 4: 725-729, 1985. 168. Pyeritz, R. E.; Stamberg, J.; Thomas, G. H.; Bell, B. B.; Zahka, K. G.; Bernhardt, B. A.: The marker Xq28 syndrome (fragile X syndrome) in a retarded man with mitral valve prolapse. Johns Hopkins Med. J. 151: 231-237, 1982. 169. Quan, F.; Grompe, M.; Jakobs, P.; Popovich, B. W.: Spontaneous deletion in the FMR1 gene in a patient with fragile X syndrome and cherubism. Hum. Molec. Genet. 4: 1681-1684, 1995. 170. Quan, F.; Zonana, J.; Gunter, K.; Peterson, K. L.; Magenis, R. E.; Popovich, B. W.: An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene. Am. J. Hum. Genet. 56: 1042-1051, 1995. 171. Ramos, F. J.; Emanuel, B. S.; Spinner, N. B.: Frequency of the common fragile site at Xq27.2 under conditions of thymidylate stress: implications for cytogenetic diagnosis of the fragile-X syndrome. Am. J. Med. Genet. 42: 835-838, 1992. 172. Reiss, A. L.; Aylward, E.; Freund, L. S.; Joshi, P. K.; Bryan, R. N.: Neuroanatomy of fragile X syndrome: the posterior fossa. Ann. Neurol. 29: 26-32, 1991. 173. Reiss, A. L.; Freund, L.; Tseng, J. E.; Joshi, P. K.: Neuroanatomy in fragile X females: the posterior fossa. Am. J. Hum. Genet. 49: 279-288, 1991. 174. Reiss, A. L.; Lee, J.; Freund, L.: Neuroanatomy of fragile X syndrome: the temporal lobe. Neurology 44: 1317-1324, 1994. 175. Reyniers, E.; Vits, L.; De Boulle, K.; Van Roy, B.; Van Velzen, D.; de Graaff, E.; Verkerk, A. J. M. H.; Jorens, H. Z. J.; Darby, J. K.; Oostra, B.; Willems, P. J.: The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm. Nature Genet. 4: 143-148, 1993. 176. Richards, B. W.; Sylvester, P. E.; Brooker, C.: Fragile X-linked mental retardation: the Martin-Bell syndrome. J. Ment. Defic. Res. 25: 253-256, 1981. 177. Richards, R. I.; Holman, K.; Friend, K.; Kremer, E.; Hillen, D.; Staples, A.; Brown, W. T.; Goonewardena, P.; Tarleton, J.; Schwartz, C.; Sutherland, G. R.: Evidence of founder chromosomes in fragile X syndrome. Nature Genet. 1: 257-260, 1992. 178. Richards, R. I.; Holman, K.; Kozman, H.; Kremer, E.; Lynch, M.; Pritchard, M.; Yu, S.; Mulley, J.; Sutherland, G. R.: Fragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site. J. Med. Genet. 28: 818-823, 1991. 179. Richards, R. I.; Holman, K.; Kozman, H.; Kremer, E.; Lynch, M.; Pritchard, M.; Yu, S.; Mulley, J.; Sutherland, G. R.: Fragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site. J. Med. Genet. 28: 818-823, 1991. 180. Richards, R. I.; Sutherland, G. R.: Dynamic mutations: a new class of mutations causing human disease. Cell 70: 709-712, 1992. 181. Rocchi, M.; Archidiacono, N.; Rinaldi, A.; Filippi, G.; Bartolucci, G.; Fancello, G. S.; Siniscalco, M.: Mental retardation in heterozygotes for the fragile-X mutation: evidence in favor of an X inactivation-dependent effect. Am. J. Hum. Genet. 46: 738-743, 1990. 182. Rodewald, L.; Miller, D. C.; Sciorra, L.; Barabas, G.; Lee, M.-L. : Central nervous system neoplasm in a young man with Martin-Bell syndrome--fra(X)-XLMR. Am. J. Med. Genet. 26: 7-12, 1987. 183. Rousseau, F.; Heitz, D.; Biancalana, V.; Blumenfeld, S.; Kretz, C.; Boue, J.; Tommerup, N.; Van Der Hagen, C.; DeLozier-Blanchet, C.; Croquette, M.-F.; Gilgenkrantz, S.; Jalbert, P.; Voelckel, M.-A.; Oberle, I.; Mandel, J.-L.: Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. New Eng. J. Med. 325: 1673-1681, 1991. 184. Rousseau, F.; Heitz, D.; Mandel, J.-L.: The unstable and methylatable mutations causing the fragile X syndrome. Hum. Mutat. 1: 91-96, 1992. 185. Rousseau, F.; Heitz, D.; Oberle, I.; Mandel, J.-L.: Selection in blood cells from female carriers of the fragile X syndrome: inverse correlation between age and proportion of active X chromosomes carrying the full mutation. J. Med. Genet. 28: 830-836, 1991. 186. Rousseau, F.; Heitz, D.; Tarleton, J.; MacPherson, J.; Malmgren, H.; Dahl, N.; Barnicoat, A.; Mathew, C.; Mornet, E.; Tejada, I.; Maddalena, A.; Spiegel, R.; Schinzel, A.; Marcos, J. A. G.; Schorderet, D. F.; Schaap, T.; Maccioni, L.; Russo, S.; Jacobs, P. A.; Schwartz, C.; Mandel, J. L.: A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases. Am. J. Hum. Genet. 55: 225-237, 1994. 187. Russo, S.; Briscioli, V.; Cogliati, F.; Macchi, M.; Lalatta, F.; Larizza, L.: An unusual fragile X sibship: female compound heterozygote and male with a partially methylated full mutation. Clin. Genet. 54: 309-314, 1998. 188. Ruvalcaba, R. H. A.; Myhre, S. A.; Roosen-Runge, E. C.; Beckwith, J. B.: X-linked mental deficiency megalotestes syndrome. J.A.M.A. 238: 1646-1650, 1977. 189. Schrander-Stumpel, C.; Gerver, W.-J.; Meyer, H.; Engelen, J.; Mulder, H.; Fryns, J.-P.: Prader-Willi-like phenotype in fragile X syndrome. Clin. Genet. 45: 175-180, 1994. 190. Sherman, S. L.: Premature ovarian failure among fragile X premutation carriers: parent-of-origin effect? (Editorial) Am. J. Hum. Genet. 67: 11-13, 2000. 191. Sherman, S. L.; Jacobs, P. A.; Morton, N. E.; Froster-Iskenius, U.; Howard-Peebles, P. N.; Nielsen, K. B.; Partington, M. W.; Sutherland, G. R.; Turner, G.; Watson, M.: Further segregation analysis of the fragile X syndrome with special reference to transmitting males. Hum. Genet. 69: 289-299, 1985. 192. Siomi, H.; Choi, M.; Siomi, M. C.; Nussbaum, R. L.; Dreyfuss, G.: Essential role for KH domains in RNA binding: impaired RNA binding by a mutation in the KH domain of FMR1 that causes fragile X syndrome. Cell 77: 33-39, 1994. 193. Siomi, H.; Siomi, M. C.; Nussbaum, R. L.; Dreyfuss, G.: The protein product of the fragile X gene, FMR1, has characteristics of an RNAbinding protein. Cell 74: 291-298, 1993. 194. Sittler, A.; Devys, D.; Weber, C.; Mandel, J.-L.: Alternative splicing of exon 14 determines nuclear or cytoplasmic localisation of fmr1 protein isoforms. Hum. Molec. Genet. 5: 95-102, 1996. 195. Smeets, H. J. M.; Smits, A. P. T.; Verheij, C. E.; Theelen, J. P. G.; Willemsen, R.; van de Burgt, I.; Hoogeveen, A. T.; Oosterwijk, J. C.; Oostra, B. A.: Normal phenotype in two brothers with a full FMR1 mutation. Hum. Molec. Genet. 4: 2103-2108, 1995. 196. Smits, A. P. T.; Dreesen, J. C. F. M.; Post, J. G.; Smeets, D. F. C. M.; de Die-Smulders, C.; Spaans-van der Bijl, T.; Govaerts, L. C. P.; Warren, S. T.; Oostra, B. A.; van Oost, B. A.: The fragile X syndrome: no evidence for any recent mutations. J. Med. Genet. 30: 94-96, 1993. 197. Snow, K.; Doud, L. K.; Hagerman, R.; Pergolizzi, R. G.; Erster, S. H.; Thibodeau, S. N.: Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population. Am. J. Hum. Genet. 53: 1217-1228, 1993. 198. Snyder, F. F.; Lin, C. C.; Harasym, C. A.; Jamro, H. K.; Kushnig, M. L.; Lowe, J. K.; O'Brien, S. I.: Evidence for close association between the fragile X(q27-28) chromosome site and glucose-6-phosphate dehydrogenase (G6PD) but not with hypoxanthine-guanine phosphoribosyltransferase (HPRT). (Abstract) Cytogenet. Cell Genet. 37: 587, 1984. 199. Soysa, P.; Senanayahe, M.; Mikkelsen, M.; Poulsen, H.: Martin-Bell syndrome fra(X)(q28) in a Sri Lankan family. J. Ment. Defic. Res. 26: 251-257, 1982. 200. Steinbach, P.: Mental impairment in Martin-Bell syndrome is probably determined by interaction of several genes: simple explanation of phenotypic differences between unaffected and affected males with the same X chromosome. Hum. Genet. 72: 248-252, 1986. 201. Stoll, C.: Problems in the diagnosis of fragile X syndrome in young children are still present. Am. J. Med. Genet. 100: 110-115, 2001. 202. Storm, K.; Handig, I.; Reyniers, E.; Oostra, B. A.; Kooy, R. F.; Willems, P. J.: Incomplete EcoRI digestion may lead to false diagnosis of fragile X syndrome. Hum. Genet. 102: 54-56, 1998. 203. Subramanian, P. S.; Nelson, D. L.; Chinault, A. C.: Large domains of apparent delayed replication timing associated with triplet repeat expansion at FRAXA and FRAXE. Am. J. Hum. Genet. 59: 407-416, 1996. 204. Sun, Y. J.; Baumer, A.: Nonrandom X inactivation and selection of fragile X full mutation in fetal fibroblasts. Am. J. Med. Genet. 86: 162-164, 1999. 205. Sutherland, G. R.: Personal Communication. Adelaide, Australia 11/3/1993. 206. Sutherland, G. R.: Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium. Science 197: 265-266, 1977. 207. Sutherland, G. R.: Heritable sites on human chromosomes. VII. Children homozygous for the BrdUrequiring fra10q25 are phenotypically normal. Am. J. Hum. Genet. 33: 946-949, 1981. 208. Sutherland, G. R.: Heritable fragile sites on human chromosomes. II. Distribution, phenotypic effects, and cytogenetics. Am. J. Hum. Genet. 31: 136-148, 1979. 209. Sutherland, G. R.: Personal Communication. Adelaide, Australia 6/1989. 210. Sutherland, G. R.; Ashford, P. L. C.: X-linked mental retardation with macro-orchidism and the fragile site at Xq27 or 28. Hum. Genet. 48: 117-120, 1979. 211. Sutherland, G. R.; Baker, E.: Characterisation of a new rare fragile site easily confused with the fragile X. Hum. Molec. Genet. 1: 111-113, 1992. 212. Sutherland, G. R.; Gedeon, A.; Kornman, L.; Donnelly, A.; Byard, R. W.; Mulley, J. C.; Kremer, E.; Lynch, M.; Pritchard, M.; Yu, S.; Richards, R. I.: Prenatal diagnosis of fragile X syndrome by direct detection of the unstable DNA sequence. New Eng. J. Med. 325: 1720-1722, 1991. 213. Sved, J. A.; Laird, C. D.: Population genetic consequences of the fragile X syndrome, based on the X-inactivation imprinting model. Am. J. Hum. Genet. 46: 443-451, 1990. 214. Sved, J. A.; Laird, C. D.: The X-inactivation imprinting model can explain the incidence of the fragile-X syndrome of mental retardation in mother-offspring pairs. Brain Dysfunction 1: 245-254, 1988. 215. Szabo, P.; Purrello, M.; Rocchi, M.; Archidiacono, N.; Alhadeff, B.; Filippi, G.; Toniolo, D.; Martini, G.; Luzzatto, L.; Siniscalco, M.: Cytological mapping of the human glucose-6-phosphate dehydrogenase gene distal to the fragile-X site suggests a high rate of meiotic recombination across this site. Proc. Nat. Acad. Sci. 81: 7855-7859, 1984. 216. Tamanini, F.; Bontekoe, C.; Bakker, C. E.; van Unen, L.; Anar, B.; Willemsen, R.; Yoshida, M.; Galjaard, H.; Oostra, B. A.; Hoogeveen, A. T.: Different targets for the fragile X-related proteins revealed by their distinct nuclear localizations. Hum. Molec. Genet. 8: 863-869, 1999. 217. Tarleton, J.; Richie, R.; Schwartz, C.; Rao, K.; Aylsworth, A. S.; Lachiewicz, A.: An extensive de novo deletion removing FMR1 in a patient with mental retardation and the fragile X syndrome phenotype. Hum. Molec. Genet. 2: 1973-1974, 1993. 218. Thibodeau, S. N.; Dorkins, H. R.; Faulk, K. R.; Berry, R.; Smith, A. C. M.; Hagerman, R.; King, A.; Davies, K. E.: Linkage analysis using multiple DNA polymorphic markers in normal families and in families with fragile X syndrome. Hum. Genet. 79: 219-227, 1988. 219. Thode, A.; Laing, S.; Partington, M. W.; Turner, G.: Is there a fragile(X) negative Martin-Bell syndrome?. Am. J. Med. Genet. 30: 459-471, 1988. 220. Toledano-Alhadef, H.; Basel-Vanagaite, L.; Magal, N.; Davidov, B.; Ehrlich, S.; Drasinover, V.; Taub, E.; Halpern, G. J.; Ginott, N.; Shohat, M.: Fragile X carrier screening and the prevalence of premutation and full-mutation carriers in Israel. Am. J. Hum. Genet. 69: 351-360, 2001. 221. Tommerup, N.; Poulsen, H.; Brondum-Nielsen, K.: 5-Fluoro-2-prime-deoxyuridine induction of the fragile site on Xq28 associated with X-linked mental retardation. J. Med. Genet. 33: 234-242, 1981. 222. Turner, G.; Brookwell, R.; Daniel, A.; Selikowitz, M.; Zilibowitz, M.: Heterozygous expression of X-linked mental retardation and X-chromosome marker fra(X)(q27). New Eng. J. Med. 303: 662-664, 1980. 223. Turner, G.; Daniel, A.; Frost, M.: X-linked mental retardation, macroorchidism, and the Xq27 fragile site. J. Pediat. 96: 837-841, 1980. 224. Turner, G.; Eastman, C.; Casey, J.; McLeay, A.; Procopis, P.; Turner, B.: X-linked mental retardation associated with macro-orchidism. J. Med. Genet. 12: 367-371, 1975. 225. Turner, G.; Till, R.; Daniel, A.: Marker X chromosomes, mental retardation and macro-orchidism. (Letter) New Eng. J. Med. 299: 1472, 1978. 226. Turner, G.; Webb, T.; Wake, S.; Robinson, H.: Prevalence of fragile X syndrome. Am. J. Med. Genet. 64: 196-197, 1996. 227. Uchida, I. A.; Joyce, E. M.: Activity of the fragile X in heterozygous carriers. Am. J. Hum. Genet. 34: 286-293, 1982. 228. van den Ouweland, A. M. W.; Deelen, W. H.; Kunst, C. B.; Uzielli, M.-L. G.; Nelson, D. L.; Warren, S. T.; Oostra, B. A.; Halley, D. J. J.: Loss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomes. Hum. Molec. Genet. 3: 1823-1827, 1994. 229. Van Roy, B. C.; De Smedt, M. C.; Raes, R. A.; Dumon, J. E.; Leroy, J. G.: Fragile X trait in a large kindred: transmission also through normal males. J. Med. Genet. 20: 286-289, 1983. 230. Verheij, C.; Bakker, C. E.; de Graaff, E.; Keulemans, J.; Willemsen, R.; Verkerk, A. J. M. H.; Galjaard, H.; Reuser, A. J. J.; Hoogeveen, A. T.; Oostra, B. A.: Characterization and localization of the FMR-1 gene product associated with fragile X syndrome. Nature 363: 722-724, 1993. 231. Verheij, C.; de Graaff, E.; Bakker, C. E.; Willemsen, R.; Willems, P. J.; Meijer, N.; Galjaard, H.; Reuser, A. J. J.; Oostra, B. A.; Hoogeveen, A. T.: Characterization of FMR1 proteins isolated from different tissues. Hum. Molec. Genet. 4: 895-901, 1995. 232. Verkerk, A. J. M. H.; Pieretti, M.; Sutcliffe, J. S.; Fu, Y.-H.; Kuhl, D. P. A.; Pizzuti, A.; Reiner, O.; Richards, S.; Victoria, M. F.; Zhang, F.; Eussen, B. E.; van Ommen, G.-J. B.; Blonden, L. A. J.; Riggins, G. J.; Chastain, J. L.; Kunst, C. B.; Galjaard, H.; Caskey, C. T.; Nelson, D. L.; Oostra, B. A.; Warren, S. T.: Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65: 905-914, 1991. 233. Vianna-Morgante, A. M.; Costa, S. S.: Premature ovarian failure is associated with maternally and paternally inherited premutation in Brazilian families with fragile X. (Letter) Am. J. Hum. Genet. 67: 254-255, 2000. 234. Vincent, J. B.; Gurling, H. M. D.: Point mutation in intron 10 of FMR1 is unlikely to be a cause of fragile X syndrome. (Letter) Hum. Mutat. 12: 431 only, 1998. 235. Voelckel, M. A.; Mattei, M. G.; N'Guyen, C.; Philip, N.; Birg, F.; Mattei, J. F.: Dissociation between mental retardation and fragile site expression in a family with fragile X-linked mental retardation. Hum. Genet. 80: 375-378, 1988. 236. Vogel, F.; Crusio, W. E.; Kovac, C.; Fryns, J.-P.; Freund, M. : Selective advantage of fra (X) heterozygotes. Hum. Genet. 86: 25-32, 1990. 237. Wallace, D. C.; Torroni, A.: American Indian prehistory as written in the mitochondrial DNA: a review. Hum. Biol. 64: 403-416, 1992. 238. Wang, Y.-C.; Li, S.-Y.: Response to Vincent and Gurling. (Letter) Hum. Mutat. 12: 432 only, 1998. 239. Wang, Y.-C.; Lin, M.-L.; Lin, S. J.; Li, Y.-C.; Li, S.-Y.: Novel point mutation within intron 10 of FMR-1 gene causing fragile X syndrome. Hum. Mutat. 10: 393-399, 1997. 240. Warren, S. T.; Glover, T. W.; Davidson, R. L.; Jagadeeswaran, P.: Linkage and recombination between fragile X-linked mental retardation and the factor IX gene. (Letter) Hum. Genet. 69: 44-46, 1985. 241. Warren, S. T.; Knight, S. J. L.; Peters, J. F.; Stayton, C. L.; Consalez, G. G.; Zhang, F. P.: Isolation of the human chromosomal band Xq28 within somatic cell hybrids by fragile X site breakage. Proc. Nat. Acad. Sci. 87: 3856-3860, 1990. 242. Warren, S. T.; Zhang, F.; Licameli, G. R.; Peters, J. F.: The fragile X site in somatic cell hybrids: an approach for molecular cloning of fragile sites. Science 237: 420-423, 1987. 243. Warren, S. T.; Zhang, F. P.; Sutcliffe, J. S.; Peters, J. F. : Strategy for molecular cloning of the fragile X site DNA. Am. J. Med. Genet. 30: 613-623, 1988. 244. Weaver, D. D.; Sherman, S. L.: A counseling guide to the Martin-Bell syndrome. (Letter) Am. J. Med. Genet. 26: 39-44, 1987. 245. Webb, T.; Jacobs, P. A.: Fragile Xq27.3 in female heterozygotes for the Martin-Bell syndrome. J. Med. Genet. 27: 627-631, 1990. 246. Webb, T. P.; Bundey, S.; Thake, A.; Todd, J.: The frequency of the fragile X chromosome among schoolchildren in Coventry. J. Med. Genet. 23: 396-399, 1986. 247. Wheater, R. F.; Roberts, S. H.: An improved lymphocyte culture technique: deoxycytidine release of a thymidine block and use of a constant humidity chamber for slide making. J. Med. Genet. 24: 113-115, 1987. 248. Willemsen, R.; Anar, B.; De Diego Otero, Y.; de Vries, B. B. A.; Hilhorst-Hofstee, Y.; Smits, A.; van Looveren, E.; Willems, P. J.; Galjaard, H.; Oostra, B. A.: Noninvasive test for fragile X syndrome, using hair root analysis. Am. J. Hum. Genet. 65: 98-103, 1999. 249. Willemsen, R.; Mohkamsing, S.; De Vries, B.; Devys, D.; van den Ouweland, A.; Mandel, J. L.; Galjaard, H.; Oostra, B.: Rapid antibody test for fragile X syndrome. Lancet 345: 1147-1148, 1995. 250. Willemsen, R.; Smits, A.; Mohkamsing, S.; van Beerendonk, H.; de Haan, A.; de Vries, B.; van den Ouweland, A.; Sistermans, A.; Galjaard, H.; Oostra, B. A.: Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique. Hum. Genet. 99: 308-311, 1997. 251. Winter, R. M.; Pembrey, M. E.: Analysis of linkage relationships between genetic markers around the fragile X locus with special reference to the daughters of normal transmitting males. Hum. Genet. 74: 93-97, 1986. 252. Wohrle, D.; Hennig, I.; Vogel, W.; Steinbach, P.: Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion. Nature Genet. 4: 140-142, 1993. 253. Wohrle, D.; Kotzot, D.; Hirst, M. C.; Manca, A.; Korn, B.; Schmidt, A.; Barbi, G.; Rott, H.-D.; Poustka, A.; Davies, K. E.; Steinbach, P.: A microdeletion of less than 250 kb, including the proximal part of the FMR-1 gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome. Am. J. Hum. Genet. 51: 299-306, 1992. 254. Wohrle, D.; Salat, U.; Hameister, H.; Vogel, W.; Steinbach, P. : Demethylation, reactivation, and destabilization of human fragile X full-mutation alleles in mouse embryocarcinoma cells. Am. J. Hum. Genet. 69: 504-515, 2001. 255. Yamauchi, M.; Nagata, S.; Seki, N.; Toyama, Y.; Harada, N.; Niikawa, N.; Masuno, I.; Kajii, T.; Hori, T.: Prenatal diagnosis of fragile X syndrome by direct detection of the dynamic mutation due to an unstable DNA sequence. Clin. Genet. 44: 169-172, 1993. 256. Yeshaya, J.; Shalgi, R.; Shohat, M.; Avivi, L.: Replication timing of the various FMR1 alleles detected by FISH: inferences regarding their transcriptional status. Hum. Genet. 102: 6-14, 1998. 257. Yu, S.; Mulley, J.; Loesch, D.; Turner, G.; Donnelly, A.; Gedeon, A.; Hillen, D.; Kremer, E.; Lynch, M.; Pritchard, M.; Sutherland, G. R.; Richards, R. I.: Fragile-X syndrome: unique genetics of the heritable unstable element. Am. J. Hum. Genet. 50: 968-980, 1992. 258. Yu, S.; Pritchard, M.; Kremer, E.; Lynch, M.; Nancarrow, J.; Baker, E.; Holman, K.; Mulley, J. C.; Warren, S. T.; Schlessinger, D.; Sutherland, G. R.; Richards, R. I.: Fragile X genotype characterized by an unstable region of DNA. Science 252: 1179-1181, 1991. 259. Zhang, Y. Q.; Bailey, A. M.; Matthies, H. J. G.; Renden, R. B.; Smith, M. A.; Speese, S. D.; Rubin, G. M.; Broadie, K.: Drosophila fragile X-related gene regulates the MAP1B homolog Futsch to control synaptic structure and function. Cell 107: 591-603, 2001. 260. Zhong, N.; Dobkin, C.; Brown, W. T.: A complex mutable polymorphism located within the fragile X gene. Nature Genet. 5: 248-253, 1993. 261. Zoll, B.; Arnemann, J.; Krawczak, M.; Cooper, D. N.; Pescia, G.; Wahli, W.; Steinbach, P.; Schmidtke, J.: Evidence against close linkage of the loci for fraXq of Martin-Bell syndrome and for factor IX. Hum. Genet. 71: 122-126, 1985.
[0025961]16549.Bartley, T. D.; Bogenberger, J.; Hunt, P.; Li, Y.-S.; Lu, H. S.; Martin, F.; Chang, M.-S.; Samal, B.; Nichol, J. L.; Swift, S.; Johnson, M. J.; Hsu, R.-Y.; and 41 others: Identification and cloning of a megakaryocyte growth and development factor that is a ligand for the cytokine receptor Mpl. Cell 77: 1117-1124, 1994.
[0025962]16550.Chang, M.; McNinch, J.; Basu, R.; Shutter, J.; Hsu, R.; Perkins, C.; Mar, V.; Suggs, S.; Welcher, A.; Li, L.; Lu, H.; Bartley, T.; Hunt, P.; Martin, F.; Samal, B.; Bogenberger, J.: Cloning and characterization of the human megakaryocyte growth and development factor (MGDF) gene. J. Biol. Chem. 270: 511-514, 1995.
[0025963]16551.Chang, M.-S.; Hsu, R.-Y.; McNinch, J.; Copeland, N. G.; Jenkins, N. A.: The gene for murine megakaryocyte growth and development factor (thrombopoietin, Thpo) is located on mouse chromosome 16. Genomics 26: 636-637, 1995.
[0025964]16552.de Sauvage, F. J.; Hass, P. E.; Spencer, S. D.; Malloy, B. E.; Gurney, A. L.; Spencer, S. A.; Darbonne, W. C.; Henzel, W. J.; Wong, S. C.; Kuang, W.-J.; Oles, K. J.; Hultgren, B.; Solberg, L. A., Jr.; Goeddel, D. V.; Eaton, D. L.: Stimulation of megakaryocytopoiesis and thrombopoiesis by the c-Mpl ligand. Nature 369: 533-538, 1994.
[0025965]16553.Farese, A. M.; Hunt, P.; Grab, L. B.; MacVittie, T. J.: Combined administration of recombinant human megakaryocyte growth and development factor and granulocyte colony-stimulating factor enhances multilineage hematopoietic reconstitution in nonhuman primates after radiation-induced marrow aplasia. J. Clin. Invest. 97: 2145-2151, 1996.
[0025966]16554.Foster, D. C.; Sprecher, C. A.; Grant, F. J.; Kramer, J. M.; Kuijper, J. L.; Holly, R. D.; Whitmore, T. E.; Heipel, M. D.; Bell, L. A.; Ching, A. F. T.; McGrane, V.; Hart, C.; O'Hara, P. J.; Lok, S.: Human thrombopoietin: gene structure, cDNA sequence, expression, and chromosomal localization. Proc. Nat. Acad. Sci. 91: 13023-13027, 1994.
[0025967]16555.Ghilardi, N.; Wiestner, A.; Kikuchi, M.; Ohsaka, A.; Skoda, R. C.: Hereditary thrombocythaemia in a Japanese family is caused by a novel point mutation in the thrombopoietin gene. Brit. J. Haemat. 107: 310-316, 1999.
[0025968]16556.Kaushansky, K.; Lok, S.; Holly, R. D.; Broudy, V. C.; Lin, N.; Bailey, M. C.; Forstrom, J. W.; Buddle, M. M.; Oort, P. J.; Hagen, F. S.; Roth, G. J.; Papayannopoulou, T.; Foster, D. C.: Promotion of megakaryocyte progenitor expansion and differentiation by the c-Mpl ligand thrombopoietin. Nature 369: 568-571, 1994.
[0025969]16557.Kondo, T.; Okabe, M.; Sanada, M.; Kurosawa, M.; Suzuki, S.; Kobayashi, M.; Hosokawa, M.; Asaka, M.: Familial essential thrombocythemia associated with one-base deletion in the 5-prime-untranslated region of the thrombopoietin gene. Blood 92: 1091-1096, 1998.
[0025970]16558.Li, J.; Yang, C.; Xia, Y.; Bertino, A.; Glaspy, J.; Roberts, M.; Kuter, D. J.: Thrombocytopenia caused by the development of antibodies to thrombopoietin. Blood 98: 3241-3248, 2001.
[0025971]16559.Lok, S.; Kaushansky, K.; Holly, R. D.; Kuijper, J. L.; Lofton-Day, C. E.; Oort, P. J.; Grant, F. J.; Heipel, M. D.; Burkhead, S. K.; Kramer, J. M.; Bell, L. A.; Sprecher, C. A.; Blumberg, H.; Johnson, R.; Prunkard, D.; Ching, A. F. T.; Mathewes, S. L.; Bailey, M. C.; Forstrom, J. W.; Buddle, M. M.; Osborn, S. G.; Evans, S. J.; Sheppard, P. O.; Presnell, S. R.; O'Hara, P. J.; Hagen, F. S.; Roth, G. J.; Foster, D. C.: Cloning and expression of murine thrombopoietin cDNA and stimulation of platelet production in vivo. Nature 369: 565-568, 1994.
[0025972]16560.Metcalf, D.: Thrombopoietin: at last. Nature 369: 519-520, 1994.
[0025973]16561.Methia, N.; Louache, F.; Vainchenker, W.; Wendling, F.: Oligodeoxynucleotides antisense to the proto-oncogene c-mpl specifically inhibit in vitro megakaryocytopoiesis. Blood 82: 1395-1401, 1993.
[0025974]16562.Ratajczak, M. Z.; Ratajczak, J.; Marlicz, W.; Pletcher, C. H., Jr.; Machalinski, B.; Moore, J.; Hung, H.; Gewirtz, A. M.: Recombinant human thrombopoietin (TPO) stimulates erythropoiesis by inhibiting erythroid progenitor cell apoptosis. Brit. J. Haemat. 98: 8-17, 1997.
[0025975]16563.Sohma, Y.; Akahori, H.; Seki, N.; Hori, T.; Ogami, K.; Kato, T.; Shimada, Y.; Kawamura, K.; Miyazaki, H.: Molecular cloning and chromosomal localization of the human thrombopoietin gene. FEBS Lett. 353: 57-61, 1994.
[0025976]16564.Wendling, F.; Maraskovsky, E.; Debili, N.; Florindo, C.; Teepe, M.; Titeux, M.; Methia, N.; Breton-Gorius, J.; Cosman, D.; Vainchenker, W.: c-Mpl ligand is a humoral regulator of megakaryocytopoiesis. Nature 369: 571-574, 1994.
[0025977]16565.Dualan, R.; Brody, T.; Keeney, S.; Nichols, A. F.; Admon, A.; Linn, S.: Chromosomal localization and cDNA cloning of the genes (DDB1 and DDB2) for the p127 and p48 subunits of a human damage-specific DNA binding protein. Genomics 29: 62-69, 1995.
[0025978]16566.Koken, M. H. M.; Reynolds, P.; Jaspers-Dekker, I.; Prakash, L.; Prakash, S.; Bootsma, D.; Hoeijmakers, J. H. J.: Structural and functional conservation of two human homologs of the yeast DNA repair gene RAD6. Proc. Nat. Acad. Sci. 88: 8865-8869, 1991.
[0025979]16567.Knoll, A.; Schunkert, H.; Reichwald, K.; Danser, A. H. J.; Bauer, D.; Platzer, M.; Stein, G.; Rosenthal, A.: Human renin binding protein: complete genomic sequence and association of an intronic T/C polymorphism with the prorenin level in males. Hum. Molec. Genet. 6: 1527-1534, 1997.
[0025980]16568.Laan, M.; Paabo, S.: Mapping genes by drift-generated linkage disequilibrium. (Letter) Am. J. Hum. Genet. 63: 654-656, 1998.
[0025981]16569.Takahashi, S.; Inoue, H.; Miyake, Y.: The human gene for renin-binding protein. J. Biol. Chem. 267: 13007-13013, 1992.
[0025982]16570.Terwilliger, J. D.; Zollner, S.; Laan, M.; Paabo, S.: Mapping genes through the use of linkage disequilibrium generated by genetic drift: 'drift mapping' in small populations with no demographic expansion. Hum. Hered. 48: 138-154, 1998.
[0025983]16571.van den Ouweland, A. M. W.; Verdijk, M.; Kiochis, P.; Poustka, A.; van Oost, B. A.: The human renin-binding protein gene (RENBP) maps in Xq28. Genomics 21: 279-281, 1994.
[0025984]16572.Warren, S. T.; Knight, S. J. L.; Peters, J. F.; Stayton, C. L.; Consalez, G. G.; Zhang, F.: Isolation of the human chromosomal band Xq28 within somatic cell hybrids by fragile X site breakage. Proc. Nat. Acad. Sci. 87: 3856-3860, 1990.
[0025985]16573.Calvo, R. M.; Asuncion, M.; Sancho, J.; San Millan, J. L.; Escobar-Morreale, H. F.: The role of the CAG repeat polymorphism in the androgen receptor gene and of skewed X-chromosome inactivation, in the pathogenesis of hirsutism. J. Clin. Endocr. Metab. 85: 1735-1740, 2000.
[0025986]16574.Sinclair, A. H.; Foster, J. W.; Spencer, J. A.; Page, D. C.; Palmer, M.; Goodfellow, P. N.; Marshall Graves, J. A.: Sequences homologous to ZFY, a candidate human sex-determining gene, are autosomal in marsupials. Nature 336: 780-783, 1988.
[0025987]16575.Gao, X.; Copeland, N. G.; Gilbert, D. J.; Jenkins, N. A.; Gridley, T.: Assignment of the murine Notch2 and Notch3 genes to chromosomes 3 and 17. Genomics 49: 160-161, 1998.
[0025988]16576.Larsson, C.; Lardelli, M.; White, I.; Lendahl, U.: The human NOTCH1, 2, and 3 genes are located at chromosome positions 9q34, 1p13-p11, and 19p13.2-p13.1 in regions of neoplasiaassociated translocation. Genomics 24: 253-258, 1994.
[0025989]16577.Dichgans, M.; Herzog, J.; Gasser, T.: NOTCH3 mutation involving three cysteine residues in a family with typical CADASIL. Neurology 57: 1714-1717, 2001.
[0025990]16578.Joutel, A.; Corpechot, C.; Ducros, A.; Vahedi, K.; Chabriat, H.; Mouton, P.; Alamowitch, S.; Domenga, V.; Cecillion, M.; Marechal, E.; Maciazek, J.; Vayssiere, C.; Cruaud, C.; Cabanis, E.-A.; Ruchoux, M. M.; Weissenbach, J.; Bach, J. F.; Bousser, M. G.; Tournier-Lasserve, E.: Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature 383: 707-710, 1996.
[0025991]16579.Joutel, A.; Dodick, D. D.; Parisi, J. E.; Cecillon, M.; Tournier-Lasserve, E.; Bousser, M. G.: De novo mutation in the Notch3 gene causing CADASIL. Ann. Neurol. 47: 388-391, 2000.
[0025992]16580.Joutel, A.; Vahedi, K.; Corpechot, C.; Troesch, A.; Chabriat, H.; Vayssiere, C.; Cruaud, C.; Maciazek, J.; Weissenbach, J.; Bousser, M.-G.; Bach, J.-F.; Tournier-Lasserve, E.: Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients. Lancet 350: 1511-1515, 1997.
[0025993]16581.Rebay, I.; Fehon, R. G.; Artavanis-Tsakonas, S.: Specific truncations of Drosophila Notch define dominant activated and dominant negative forms of the receptor. Cell 74: 319-329, 1993.
[0025994]16582.Deed, R. W.; Hirose, T.; Mitchell, E. L. D.; Santibanez-Koref, M. F.; Norton, J. D.: Structural organisation and chromosomal mapping of the human Id-3 gene. Gene 151: 309-314, 1994.
[0025995]16583.Ellmeier, W.; Aguzzi, A.; Kleiner, E.; Kurzbauer, R.; Weith, A. : Mutually exclusive expression of a helix-loop-helix gene and N-myc in human neuroblastomas and in normal development. EMBO J. 11: 2563-2571, 1992.
[0025996]16584.Kee, B. L.; Rivera, R. R.; Murre, C.: Id3 inhibits B lymphocyte progenitor growth and survival in response to TGF-beta. Nature Immun. 2: 242-247, 2001.
[0025997]16585.Lyden, D.; Young, A. Z.; Zagzag, D.; Yan, W.; Gerald, W.; O'Reilly, R.; Bader, B. L.; Hynes, R. O.; Zhuang, Y.; Manova, K.; Benezra, R. : Id1 and Id3 are required for neurogenesis, angiogenesis and vascularization of tumour xenografts. Nature 401: 670-677, 1999.
[0025998]16586.Pan, L.; Sato, S.; Frederick, J. P.; Sun, X.-H.; Zhuang, Y.: Impaired immune responses and B-cell proliferation in mice lacking the Id3 gene. Molec. Cell. Biol. 19: 5969-5980, 1999.
[0025999]16587.Yeh, K.; Lim, R. W.: Genomic organization and promoter analysis of the murine Id3 gene. Gene 254: 163-171, 2000.
[0026000]16588.Rubinfeld, B.; Munemitsu, S.; Clark, R.; Conroy, L.; Watt, K.; Crosier, W. J.; McCormick, F.; Polakis, P.: Molecular cloning of a GTPase activating protein specific for the Krev-1 protein p21-rap1. Cell 65: 1033-1042, 1991.
[0026001]16589.Weiss, J.; Rubinfeld, B.; Polakis, P. G.; McCormick, F.; Cavenee, W. K.; Arden, K. C.: The RAP1GA1 locus for human Rap1-GTPase activating protein 1 maps to chromosome 1p36.1-p35. Cytogenet. Cell Genet. 66: 18-21, 1994.
[0026002]16590.Braun, A.; Kammerer, S.; Weissenhorn, W.; Weiss, E. H.; Cleve, H.: Sequence of a putative human housekeeping gene (HK33) localized on chromosome 1. Gene 146: 291-295, 1994.
[0026003]16591.Gotte, K.; Girzalsky, W.; Linkert, M.; Baumgart, E.; Kammerer, S.; Kunau, W.-H.; Erdmann, R.: Pex19p, a farnesylated protein essential for peroxisome biogenesis. Molec. Cell. Biol. 18: 616-628, 1998.
[0026004]16592.James, G. L.; Goldstein, J. L.; Pathak, R. K.; Anderson, R. G. W.; Brown, M. S.: PxF, a prenylated protein of peroxisomes J. Biol. Chem. 269: 14182-14190, 1994.
[0026005]16593.Kammerer, S.; Arnold, N.; Gutensohn, W.; Mewes, H.-W.; Kunau, W.-H.; Hofler, G.; Roscher, A. A.; Braun, A.: Genomic organization and molecular characterization of a gene encoding HsPXF, a human peroxisomal farnesylated protein. Genomics 45: 200-210, 1997.
[0026006]16594.Caskey, C. T.; Pizzuti, A.; Fu, Y.-H.; Fenwick, R. G., Jr.; Nelson, D. L.: Triplet repeat mutations in human disease. Science 256: 784-789, 1992.
[0026007]16595.Chang, B.; Zheng, S. L.; Hawkins, G. A.; Isaacs, S. D.; Wiley, K. E.; Turner, A.; Carpten, J. D.; Bleecker, E. R.; Walsh, P. C.; Trent, J. M.; Meyers, D. A.; Isaacs, W. B.; Xu, J.: Polymorphic GGC repeats in the androgen receptor gene are associated with hereditary and sporadic prostate cancer risk. Hum. Genet. 110: 122-129, 2002.
[0026008]16596.Chang, C.; Kokontis, J.; Liao, S.: Molecular cloning of human and rat complementary DNA encoding androgen receptors. Science 240: 324-326, 1988.
[0026009]16597.Choong, C. S.; Kemppainen, J. A.; Zhou, Z.-X.; Wilson, E. M.: Reduced androgen receptor gene expression with first exon CAG repeat expansion. Molec. Endocr. 10: 1527-1535, 1996.
[0026010]16598.Choong, C. S.; Quigley, C. A.; French, F. S.; Wilson, E. M.: A novel missense mutation in the amino-terminal domain of the human androgen receptor gene in a family with partial androgen insensitivity syndrome causes reduced efficiency of protein translation. J. Clin. Invest. 98: 1423-1431, 1996.
[0026011]16599.Chu, J.; Zhang, R.; Zhao, Z.; Zou, W.; Han, Y.; Qi, Q.; Zhang, H.; Wang, J.-C.; Tao, S.; Liu, X.; Luo, Z.: Male fertility is compatible with an Arg840Cys substitution in the AR in a large Chinese family with divergent phenotypes of AR insensitivity syndrome. J. Clin. Endocr. Metab. 87: 347-351, 2002.
[0026012]16600.Coetzee, G. A.; Ross, R. K.: Re: Prostate cancer and the androgen receptor. (Letter) J. Nat. Cancer Inst. 86: 872-873, 1994.
[0026013]16601.Correa-Cerro, L.; Wohr, G.; Haussler, J.; Berthon, P.; Drelon, E.; Mangin, P.; Fournier, G.; Cussenot, O.; Kraus, P.; Just, W.; Paiss, T.; Cantu, J. M.; Vogel, W.: (CAG)nCAA and GGN repeats in the human androgen receptor gene are not associated with prostate cancer in a French-German population. Europ. J. Hum. Genet. 7: 347-362, 1999.
[0026014]16602.Dowsing, A. T.; Yong, E. L.; Clark, M.; McLachlan, R. I.; de Kretser, D. M.; Trounson, A. O.: Linkage between male infertility and trinucleotide repeat expansion in the androgenreceptor gene. Lancet 354: 640-643, 1999.
[0026015]16603.Elo, J. P.; Kvist, L.; Leinonen, K.; Isomaa, V.; Hentuu, P.; Lukkarinen, O.; Vihko, P.: Mutated human androgen receptor gene detected in a prostatic cancer patient is also activated by estradiol. J. Clin. Endocr. Metab. 80: 3494-3500, 1995.
[0026016]16604.Gaddipati, J. P.; McLeod, D. G.; Heidenberg, H. B.; Sesterhenn, I. A.; Finger, M. J.; Moul, J. W.; Srivastava, S.: Frequent detection of codon 877 mutation in the androgen receptor gene in advanced prostate cancers. Cancer Res. 54: 2861-2864, 1994.
[0026017]16605.Gehring, U.; Tomkins, G. M.: Characterization of a hormone receptor defect in the androgen-insensitivity mutant. Cell 3: 59-64, 1974.
[0026018]16606.Gingrich, J. R.; Barrios, R. J.; Kattan, M. W.; Nahm, H. S.; Finegold, M. J.; Greenberg, N. M.: Androgen-independent prostate cancer progression in the TRAMP model. Cancer Res. 57: 4687-4691, 1997.
[0026019]16607.Gingrich, J. R.; Greenberg, N. M.: A transgenic mouse prostate cancer model. Toxicol. Path. 24: 502-504, 1996.
[0026020]16608.Giovannucci, E.; Stampfer, M. J.; Krithivas, K.; Brown, M.; Brufsky, A.; Talcott, J.; Hennekens, C. H.; Kantoff, P. W.: The CAG repeat within the androgen receptor gene and its relationship to prostate cancer. Proc. Nat. Acad. Sci. 94: 3320-3323, 1997.
[0026021]16609.Gottlieb, B.; Beitel, L. K.; Trifiro, M. A.: Variable expressivity and mutation databases: the androgen receptor gene mutations database. Hum. Mutat. 17: 382-388, 2001.
[0026022]16610.Gottlieb, B.; Trifiro, M.; Lumbroso, R.; Pinsky, L.: The androgen receptor gene mutations database. Nucleic Acids Res. 25: 158-162, 1997.
[0026023]16611.Gottlieb, B.; Trifiro, M.; Lumbroso, R.; Vasiliou, D. M.; Pinsky, L.: The androgen receptor gene mutations database. Nucleic Acids Res. 24: 151-154, 1996.
[0026024]16612.Griffin, J. E.: Androgen resistance--the clinical and molecular spectrum. New Eng. J. Med. 326: 611-618, 1992.
[0026025]16613.Grino, P. B.; Isidro-Gutierrez, R. F.; Griffin, J. E.; Wilson, J. D.: Androgen resistance associated with a qualitative abnormality of the androgen receptor and responsive to high dose androgen therapy. J. Clin. Endocr. Metab. 68: 578-584, 1989.
[0026026]16614.Hardy, D. O.; Scher, H. I.; Bogenreider, T.; Sabbatini, P.; Zhang, Z.-F.; Nanus, D. M.; Catterall, J. F.: Androgen receptor CAG repeat lengths in prostate cancer: correlation with age of onset. J. Clin. Endocr. Metab. 81: 4400-4405, 1996.
[0026027]16615.Hellwinkel, O. J.-C.; Holterhus, P.-M.; Struve, D.; Marschke, C.; Homburg, N.; Hiort, O.: A unique exonic splicing mutation in the human androgen receptor gene indicates a physiologic relevance of regular androgen receptor transcript variants. J. Clin. Endocr. Metab. 86: 2569-2575, 2001.
[0026028]16616.Hickey, T.; Chandy, A.; Norman, R. J.: The androgen receptor CAG repeat polymorphism and X-chromosome inactivation in Australian Caucasian women with infertility related to polycystic ovary syndrome. J. Clin. Endocr. Metab. 87: 161-165, 2002.
[0026029]16617.Hiort, O.; Sinnecker, G. H. G.; Holterhus, P.-M.; Nitsche, E. M.; Kruse, K.: Inherited and de novo androgen receptor gene mutations: investigation of single-case families. J. Pediat. 132: 939-943, 1998.
[0026030]16618.Holterhus, P.-M.; Bruggenwirth, H. T.; Hiort, O.; Kleinkauf-Houcken, A.; Kruse, K.; Sinnecker, G. H. G.; Brinkmann, A. O.: Mosaicism due to a somatic mutation of the androgen receptor gene determines phenotype in androgen insensitivity syndrome. J. Clin. Endocr. Metab. 82: 3584-3589, 1997.
[0026031]16619.Shibuya, H.; Yamaguchi, K.; Shirakabe, K.; Tonegawa, A.; Gotoh, Y.; Ueno, N.; Irie, K.; Nishida, E.; Matsumoto, K.: TAB1: an activator of the TAK1 MAPKKK in TGF-beta signal transduction. Science 272: 1179-1182, 1996.
[0026032]16620.Chadwick, B. P.; Obermayr, F.; Frischauf, A.-M.: FKHL15, a new human member of the forkhead gene family located on chromosome 9q22. Genomics 41: 390-396, 1997.
[0026033]16621.De Felice, M.; Ovitt, C.; Biffali, E.; Rodriguez-Mallon, A.; Arra, C.; Anastassiadis, K.; Macchia, P. E.; Mattei, M.-G.; Mariano, A.; Scholer, H.; Macchia, V.; Di Lauro, R.: A mouse model for hereditary thyroid dysgenesis and cleft palate. Nature Genet. 19: 395-398, 1998.
[0026034]16622.Kaufmann, E.; Knochel, W.: Five years on the wings of fork head. Mech. Dev. 57: 3-20, 1996.
[0026035]16623.Manley, N. R.; Capecchi, M. R.: Hox group 3 paralogs regulate the development and migration of the thymus, thyroid, and parathyroid gland. Dev. Biol. 195: 1-15, 1998.
[0026036]16624.Toublanc, J. E.: Comparison of epidemiological data on congenital hypothyroidism in Europe with those of other parts in the world. Horm. Res. 38: 230-235, 1992.
[0026037]16625.Zannini, M.; Avantaggiato, V.; Biffali, E.; Arnone, M. I.; Sato, K.; Pischetola, M.; Taylor, B. A.; Phillips, S. J.; Simeone, A.; Di Lauro, R.: TTF-2, a new forkhead protein, shows a temporal expression in the developing thyroid which is consistent with a role in controlling the onset of differentiation. EMBO J. 16: 3185-3197, 1997.
[0026038]16626.Boyd, J. M.; Subramanian, T.; Schaeper, U.; La Regina, M.; Bayley, S.; Chinnadurai, G.: A region in the C-terminus of adenovirus 2/5 E1a protein is required for association with a cellular phosphoprotein and important for the negative modulation of T24-ras mediated transformation, tumorigenesis and metastasis. EMBO J. 469-478, 1993.
[0026039]16627.Furusawa, T.; Moribe, H.; Kondoh, H.; Higashi, Y.: Identification of CtBP1 and CtBP2 as corepressors of zinc finger-homeodomain factor delta-EF1. Molec. Cell. Biol. 19: 8581-8590, 1999.
[0026040]16628.Katsanis, N.; Fisher, E. M. C.: A novel C-terminal binding protein (CTBP2) is closely related to CTBP1, an adenovirus E1A-binding protein, and maps to human chromosome 21q21.3. Genomics 47: 294-299, 1998.
[0026041]16629.Schaeper, U.; Boyd, J. M.; Verma, S.; Uhlmann, E.; Subramanian, T.; Chinnadurai, G.: Molecular cloning and characterization of a cellular phosphoprotein that interacts with a conserved Cterminal domain of adenovirus E1A involved in negative modulation of oncogenic transformation. Proc. Nat. Acad. Sci. 92: 10467-10471, 1995.
[0026042]16630.Sewalt, R. G. A. B.; Gunster, M. J.; van der Vlag, J.; Satijn, D. P. E.; Otte, A. P.: Cterminal binding protein is a transcriptional repressor that interacts with a specific class of vertebrate polycomb proteins. Molec. Cell. Biol. 19: 777-787, 1999.
[0026043]16631.Zhang, Q.; Piston, D. W.; Goodman, R. H.: Regulation of corepressor function by nuclear NADH. Science 295: 1895-1897, 2002.
[0026044]16632.Aya, K.; Tanaka, H.; Seino, Y.: Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type. Kidney Int. 57: 401-404, 2000.
[0026045]16633.Beltcheva, O.; Martin, P.; Lenkkeri, U.; Tryggvason, K.: Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome. Hum. Mutat. 17: 368-373, 2001.
[0026046]16634.Guez, S.; Giani, M.; Melzi, M. L.; Antignac, C.; Assael, B. M. : Adequate clinical control of congenital nephrotic syndrome by enalapril. Pediat. Nephrol. 12: 130-132, 1998.
[0026047]16635.Koziell, A.; Grech, V.; Hussain, S.; Lee, G.; Lenkkeri, U.; Tryggvason, K.; Scambler, P.: Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. Hum. Molec. Genet. 11: 379-388, 2002.
[0026048]16636.Lenkkeri, U.; Mannikko, M.; McCready, P.; Lamerdin, J.; Gribouval, O.; Niaudet, P.; Antignac, C.; Kashtan, C. E.; Holmberg, C.; Olsen, A.; Kestila, M.; Tryggvason, K.: Structure of the gene for congenital nephrotic syndrome of the Finnish type (NPHS1) and characterization of mutations. Am. J. Hum. Genet. 64: 51-61, 1999.
[0026049]16637.Liu, L.; Done, S. C.; Khoshnoodi, J.; Bertorello, A.; Wartiovaara, J.; Berggren, P.-O.; Tryggvason, K.: Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome. Hum. Molec. Genet. 10: 2637-2644, 2001.
[0026050]16638.Putaala, H.; Soininen, R.; Kilpelainen, P.; Wartiovaara, J.; Tryggvason, K.: The murine nephrin gene is specifically expressed in kidney, brain and pancreas: inactivation of the gene leads to massive proteinuria and neonatal death. Hum. Molec. Genet. 10: 1-8, 2001.
[0026051]16639.Ruotsalainen, V.; Ljungberg, P.; Wartiovaara, J.; Lenkkeri, U.; Kestila, M.; Jalanko, H.; Holmberg, C.; Tryggvason, K.: Nephrin is specifically located at the slit diaphragm of glomerular podocytes. Proc. Nat. Acad. Sci. 96: 7962-7967, 1999.
[0026052]16640.Watanabe, T.; Inoue, S.; Hiroi, H.; Orimo, A.; Kawashima, H.; Muramatsu, M.: Isolation of estrogen-responsive genes with a CpG island library. Molec. Cell. Biol. 18: 442-449, 1998.
[0026053]16641.Adra, C. N.; Kobayashi, H.; Rowley, J. D.; Lim, B.: Assignment of the human GDID4 gene, a GDP/GTP-exchange regulator, to chromosome 12p12.3. Genomics 24: 188-190, 1994.
[0026054]16642.Leffers, H.; Nielsen, M. S.; Andersen, A. H.; Honore, B.; Madsen, P.; Vandekerckhove, J.; Celis, J. E.: Indentification of two human Rho GDP dissociation inhibitor proteins whose overexpression leads to disruption of the actin cytoskeleton. Exp. Cell Res. 209: 165-174, 1993.
[0026055]16643.Lelias, J.-M.; Adra, C. N.; Wulf, G. M.; Guillemot, J.-C.; Khagad, M.; Caput, D.; Lim, B.: cDNA cloning of a human mRNA preferentially expressed in hematopoietic cells and with homology to a GDP-dissociation inhibitor for the rho GTP-binding proteins. Proc. Nat. Acad. Sci. 90: 1479-1483, 1993.
[0026056]16644.Scherle, P.; Behrens, T.; Staudt, L. M.: Ly-GDI, a GDP-dissociation inhibitor of the RhoA GTP-binding protein, is expressed preferentially in lymphocytes. Proc. Nat. Acad. Sci. 90: 7568-7572, 1993.
[0026057]16645.Telford, E. A. R.; Wightman, P.; Leek, J.; Markham, A. F.; Lench, N. J.; Bonthron, D. T.: cDNA cloning, genomic organization, and chromosomal localization of a novel human gene that encodes a kinesin-related protein highly similar to mouse Kif3C. Biochem. Biophys. Res. Commun. 242: 407-412, 1998.
[0026058]16646.Kalchman, M. A.; Graham, R. K.; Xia, G.; Koide, H. B.; Hodgson, J. G.; Graham, K. C.; Goldberg, Y. P.; Gietz, R. D.; Pickart, C. M.; Hayden, M. R.: Huntingtin is ubiquitinated and interacts with a specific ubiquitin-conjugating enzyme. J. Biol. Chem. 271: 19385-19394, 1996.
[0026059]16647.Chiariotti, L.; Benvenuto, G.; Fedele, M.; Santoro, M.; Simeone, A.; Fusco, A.; Bruni, C. B.: Identification and characterization of a novel RING-finger gene (RNF4) mapping at 4p16.3. Genomics 47: 258-265, 1998.
[0026060]16648.Ishikawa, K.; Nagase, T.; Suyama, M.; Miyajima, N.; Tanaka, A.; Kotani, H.; Nomura, N.; Ohara, O.: Prediction of coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. DNA Res. 5: 169-176, 1998.
[0026061]16649.Waldegger, S.; Erdel, M.; Nagl, U. O.; Barth, P.; Raber, G.; Steuer, S.; Utermann, G.; Paulmichl, M.; Lang, F.: Genomic organization and chromosomal localization of the human SGK protein kinase gene. Genomics 51: 299-302, 1998.
[0026062]16650.Webster, M. K.; Goya, L.; Ge, Y.; Maiyar, A. C.; Firestone, G. L.: Characterization of sgk, a novel member of the serine/threonine protein kinase gene family which is transcriptionally induced by glucocorticoids and serum. Molec. Cell. Biol. 13: 2031-2040, 1993.
[0026063]16651.Aoki, K.; Ishida, R.; Kasai, M.: Isolation and characterization of a cDNA encoding a translin-like protein, TRAX. FEBS Lett. 401: 109-112, 1997.
[0026064]16652.Meng, G.; Aoki, K.; Tokura, K.; Nakahara, K.; Inazawa, J.; Kasai, M.: Genomic structure and chromosomal localization of the gene encoding TRAX, a translin-associated factor X. J. Hum. Genet. 45: 305-308, 2000.
[0026065]16653.Collins, C.; Rommens, J. M.; Kowbel, D.; Godfrey, T.; Tanner, M.; Hwang, S.; Polikoff, D.; Nonet, G.; Cochran, J.; Myambo, K.; Jay, K. E.; Froula, J.; Cloutier, T.; Kuo, W.-L.; Yaswen, P.; Dairkee, S.; Giovanola, J.; Hutchinson, G. B.; Isola, J.; Kallioniemi, O.-P.; Palazzolo, M.; Martin, C.; Ericsson, C.; Pinkel, D.; Albertson, D.; Li, W.-B.; Gray, J. W.: Positional cloning of ZNF217 and NABC1: genes amplified at 20q13.2 and overexpressed in breast carcinoma. Proc. Nat. Acad. Sci. 95: 8703-8708, 1998.
[0026066]16654.Eudy, J. D.; Yao, S.; Weston, M. D.; Ma-Edmonds, M.; Talmadge, C. B.; Cheng, J. J.; Kimberling, W. J.; Sumegi, J.: Isolation of a gene encoding a novel member of the nuclear receptor superfamily from the critical region of Usher syndrome type IIa at 1q41. Genomics 50: 382-384, 1998.
[0026067]16655.Greschik, H.; Wurtz, J.-M.; Sanglier, S.; Bourguet, W.; van Dorsselaer, A.; Moras, D.; Renaud, J.-P.: Structural and functional evidence for ligand-independent transcriptional activation by the estrogen-related receptor 3. Molec. Cell 9: 303-313, 2002.
[0026068]16656.Matsuyoshi, N.; Imamura, S.: Multiple cadherins are expressed in human fibroblasts. Biochem. Biophys. Res. Commun. 235: 355-358, 1997.
[0026069]16657.Bertilsson, G.; Heidrich, J.; Svensson, K.; Asman, M.; Jendeberg, L.; Sydow-Backman, M.; Ohlsson, R.; Postlind, H.; Blomquist, P.; Berkenstam, A.: Identification of a human nuclear receptor defines a new signaling pathway for CYP3A induction. Proc. Nat. Acad. Sci. 95: 12208-12213, 1998.
[0026070]16658.Blumberg, B.; Sabbagh, W., Jr.; Juguilon, H.; Bolado, J., Jr.; van Meter, C. M.; Ong, E. S.; Evans, R. M.: SXR, a novel steroid and xenobiotic-sensing nuclear receptor. Genes Dev. 12: 3195-3205, 1998.
[0026071]16659.Watkins, R. E.; Wisely, G. B.; Moore, L. B.; Collins, J. L.; Lambert, M. H.; Williams, S. P.; Willson, T. M.; Kliewer, S. A.; Redinbo, M. R.: The human nuclear xenobiotic receptor PXR: structural determinants of directed promiscuity. Science 292: 2329-2333, 2001.
[0026072]16660.Nemes, J. P.; Benzow, K. A.; Koob, M. D.: The SCA8 transcript is an antisense RNA to a brain-specific transcript encoding a novel actin-binding protein (KLHL1). Hum. Molec. Genet. 9: 1543-1551, 2000.
[0026073]16661.Adato, A.; Raskin, L.; Petit, C.; Bonne-Tamir, B.: Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus. Europ. J. Hum. Genet. 8: 437-442, 2000.
[0026074]16662.Yasunaga, S.; Grati, M.; Chardenoux, S.; Smith, T. N.; Friedman, T. B.; Lalwani, A. K.; Wilcox, E. R.; Petit, C.: OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9. Am. J. Hum. Genet. 67: 591-600, 2000.
[0026075]16663.Yasunaga, S.; Petit, C.: Physical map of the region surrounding the OTOFERLIN locus on chromosome 2p22-p23. Genomics 66: 110-112, 2000.
[0026076]16664.Boffa, M. B.; Reid, S.; Joo, E.; Nesheim, M. E.; Koschinsky, M. L.: Characterization of the gene encoding human TAFI (thrombin-activable fibrinolysis inhibitor; plasma procarboxypeptidase B). Biochemistry 38: 6547-6558, 1999.
[0026077]16665.Eaton, D. L.; Malloy, B. E.; Tsai, S. P.; Henzel, W.; Drayna, D. : Isolation, molecular cloning, and partial characterization of a novel carboxypeptidase B from human plasma. J. Biol. Chem. 266: 21833-21838, 1991.
[0026078]16666.Koschinsky, M. L.; Boffa, M. B.; Nesheim, M. E.; Zinman, B.; Hanley, A. J. G.; Harris, S. B.; Cao, H.; Hegele, R. A.: Association of a single nucleotide polymorphism in CPB2 encoding the thrombin-activable fibrinolysis inhibitor (TAFI) with blood pressure. Clin. Genet. 60: 345-349, 2001.
[0026079]16667.Tregouet, D.-A.; Aubert, H.; Henry, M.; Morange, P.; Visvikis, S.; Juhan-Vague, I.; Tiret, L.: Combined segregation-linkage analysis of plasma thrombin-activatable fibrinolysis inhibitor (TAFI) antigen levels with TAFI gene polymorphisms. Hum. Genet. 109: 191-197, 2001.
[0026080]16668.Tsai, S. P.; Drayna, D.: The gene encoding human plasma carboxypeptidase B (CPB2) resides on chromosome 13. Genomics 14: 549-550, 1992.
[0026081]16669.Vanhoof, G.; Wauters, J.; Schatteman, K.; Hendriks, D.; Goossens, F.; Bossuyt, P.; Scharpe, S.: The gene for human carboxypeptidase U (CPU)--a proposed novel regulator of plasminogen activation--maps to 13q14.11. Genomics 38: 454-455, 1996.
[0026082]16670.Zhao, L.; Morser, J.; Bajzar, L.; Nesheim, M.; Nagashima, N.: Identification and characterization of two thrombin-activatable fibrinolysis inhibitor isoforms. Thromb. Haemost. 80: 949-955, 1998.
[0026083]16671.McGwire, G. B.; Tan, F.; Michel, B.; Rehli, M.; Skidgel, R. A. : Identification of a membrane-bound carboxypeptidase as the mammalian homolog of duck gp180, a hepatitis B virusbinding protein. Life Sci. 60: 715-724, 1997.
[0026084]16672.Riley, D. A.; Tan, F.; Miletich, D. J.; Skidgel, R. A.: Chromosomal localization of the genes for human carboxypeptidase D (CPD) and the active 50-kilodalton subunit of human carboxypeptidase N (CPN1). Genomics 50: 105-108, 1998.
[0026085]16673.Tan, F.; Rehli, M.; Krause, S. W.; Skidgel, R. A.: Sequence of human carboxypeptidase D reveals it to be a member of the regulatory carboxypeptidase family with three tandem active site domains. Biochem. J. 327: 81-87, 1997.
[0026086]16674.Rajadhyaksha, A. Riviere, M.; Van Vooren, P.; Szpirer, J.; Szpirer, C.; Babin, J.; Bina, M.: Assignment of AR1, transcription factor 20 (TCF20), to human chromosome 22q13.3 with somatic cell hybrids and in situ hybridization. Cytogenet. Cell Genet. 81: 176-177, 1998.
[0026087]16675.Sanz, L.; Moscat, J.; Diaz-Meco, M. T.: Molecular characterization of a novel transcription factor that controls stromelysin expression. Molec. Cell. Biol. 15: 3164-3170, 1995.
[0026088]16676.Ding, H.; Descheemaeker, K.; Marynen, P.; Nelles, L.; Carvalho, T.; Carmo-Fonseca, M.; Collen, D.; Belayew, A.: Characterization of a helicase-like transcription factor involved in the expression of the human plasminogen activator inhibitor-1 gene. DNA Cell Biol. 15: 429-442, 1996.
[0026089]16677.Lin, Y.; Sheridan, P. L.; Jones, K. A.; Evans, G. A.: The HIP116 SNF2/SWI2-related transcription factor gene (SNF2L3) is located on human chromosome 3q25.1-q26.1 Genomics 27: 381-382, 1995.
[0026090]16678.Moinova, H. R.; Chen, W.-D.; Shen, L.; Smiraglia, D.; Olechnowicz, J.; Ravi, L.; Kasturi, L.; Myeroff, L.; Plass, C.; Parsons, R.; Minna, J.; Willson, J. K. V.; Green, S. B.; Issa, J.-P.; Markowitz, S. D. : HLTF gene silencing in human colon cancer. Proc. Nat. Acad. Sci. 99: 4562-4567, 2002.
[0026091]16679.Sheridan, P. L.; Schorpp, M.; Voz, M. L.; Jones, K. A.: Cloning of an SNF2/SWI2-related protein that binds specifically to the SPH motifs of the SV40 enhancer and to the HIV-1 promoter. J. Biol. Chem. 270: 4575-4587, 1995.
[0026092]16680.Ambros, P. F.; Schmid, J.; Rumpler, S.; Binder, B. R.; de Martin, R.: Localization of the human I-kappa-B kinase-beta (IKBKB) to chromosome 8p11.2 by fluorescence in situ hybridization and radiation hybrid mapping. Genomics 54: 575-576, 1998.
[0026093]16681.Pasparakis, M.; Courtois, G.; Hafner, M.; Schmidt-Supprian, M.; Nenci, A.; Toksoy, A.; Krampert, M.; Goebeler, M.; Gillitzer, R.; Israel, A.; Krieg, T.; Rajewsky, K.; Haase, I.: TNFmediated inflammatory skin disease in mice with epidermis-specific deletion of IKK2. Nature 417: 861-866, 2002.
[0026094]16682.Rossi, A.; Kapahi, P.; Natoli, G.; Takahashi, T.; Chen, Y.; Karin, M.; Santoro, M. G.: Anti-inflammatory cyclopentenone prostaglandins are direct inhibitors of I-kappa-B kinase. Nature 403: 103-108, 2000.
[0026095]16683.Shindo, M.; Nakano, H.; Sakon, S.; Yagita, H.; Mihara, M.; Okumura, K.: Assignment of I-kappa-B kinase beta (IKBKB) to human chromosome band 8p12-p11 by in situ hybridization. Cytogenet. Cell Genet. 82: 32-33, 1998.
[0026096]16684.Tang, G.; Yang, J.; Minemoto, Y.; Lin, A.: Blocking caspase-3-mediated proteolysis of IKK-beta suppresses TNF-alpha-induced apoptosis. Molec. Cell 8: 1005-1016, 2001.
[0026097]16685.Woronicz, J. D.; Gao, X.; Cao, Z.; Rothe, M.; Goeddel, D. V.: IkappaB kinase-beta: NF-kappa-B activation and complex formation with IkappaB kinase-alpha and NIK. Science 278: 866-869, 1997.
[0026098]16686.Yin, M.-J.; Yamamoto, Y.; Gaynor, R. B.: The anti-inflammatory agents aspirin and salicylate inhibit the activity of I-kappa-B kinase-beta. Nature 396: 77-80, 1998.
[0026099]16687.Zandi, E.; Rothwarf, D. M.; Delhase, M.; Hayakawa, M.; Karin, M.: The IkappaB kinase complex (IKK) contains two kinase subunits, IKKalpha and IKKbeta, necessary for IkappaB phosphorylation and NF-kappa-B activation. Cell 91: 243-252, 1997.
[0026100]16688.Aoki, M.; Hamada, F.; Sugimoto, T.; Sumida, S.; Akiyama, T.; Toyoshima, K.: The human cot proto-oncogene encodes two protein serine/threonine kinases with different transforming activities by alternative initiation of translation. J. Biol. Chem. 268: 22723-22732, 1993.
[0026101]16689.Bataille, V.; Hiles, R.; Bishop, J. A. N.: Retinoblastoma, melanoma and the atypical mole syndrome. Brit. J. Derm. 132: 134-138, 1995.
[0026102]16690.Chilosi, M.; Doglioni, C.; Yan, Z.; Lestani, M.; Menestrina, F.; Sorio, C.; Benedetti, A.; Vinante, F.; Pizzolo, G.; Inghirami, G. : Differential expression of cyclin-dependent kinase 6 in cortical thymocytes and T-cell lymphoblastic lymphoma/leukemia. Am. J. Pathol. 152: 209-217, 1998.
[0026103]16691.Costello, J. F.; Plass, C.; Arap, W.; Chapman, V. M.; Held, W. A.; Berger, M. S.; Su Huang, H. J.; Cavenee, W. K.: Cylcin-dependent kinase 6 (cdk6) amplification in human gliomas identified using two-dimensional separation of genomic DNA. Cancer Res. 57: 1250-1254, 1997.
[0026104]16692.Guan, K.-L.; Jenkins, C. W.; Li, Y.; Nichols, M. A.; Wu, X.; O'Keefe, C. L.; Matera, A. G.; Xiong, Y.: Growth suppression by p18, a p16(INK4/MTS1)- and p14(INK4B/MTS2)-related CDK6 inhibitor, correlates with wild-type pRb function. Genes Dev. 8: 2939-2952, 1994.
[0026105]16693.Lien, H.-C.; Lin, C.-W.; Huang, P.-H.; Chang, M.-L.; Hsu, S.-M. : Expression of cyclin-dependent kinase 6 (cdk6) and frequent loss of CD44 in nasal-nasopharyngeal NK/T-cell lymphomas: comparison with CD56-negative peripheral T-cell lymphomas. Lab. Invest. 80: 893-900, 2000.
[0026106]16694.Meyerson, M.; Harlow, E.: Identification of G1 kinase activity for cdk6, a novel cyclin D partner. Molec. Cell. Biol. 14: 2077-2086, 1994.
[0026107]16695.Shennan, M. G.; Badin, A.-C.; Walsh, S.; Summers, A.; From, L.; McKenzie, M.; Goldstein, A. M.; Tucker, M. A.; Hogg, D.; Lassam, N. : Lack of germline CDK6 mutations in familial melanoma. Oncogene 19: 1849-1852, 2000.
[0026108]16696.Traboulsi, E. I.; Zimmerman, L. E.; Manz, H. J.: Cutaneous malignant melanoma in survivors of heritable retinoblastoma. Arch. Ophthal. 106: 1059-1061, 1988.
[0026109]16697.Blais, A.; Labrie, Y.; Pouliot, F.; Lachance, Y.; Labrie, C.: Structure of the gene encoding the human cyclin-dependent kinase inhibitor p18 and mutational analysis in breast cancer. Biochem. Biophys. Res. Commun. 247: 146-153, 1998.
[0026110]16698.Lapointe, J.; Lachance, Y.; Labrie, Y.; Labrie, C.: A p18 mutant defective in CDK6 binding in human breast cancer cells. Cancer Res. 56: 4586-4589, 1996.
[0026111]16699.Bontemps, Y.; Maquart, F.-X.; , Wegrowski, Y.: Human UDP-glucose dehydrogenase gene: complete cloning and transcription start mapping. Biochem. Biophys. Res. Commun. 275: 981-985, 2000.
[0026112]16700.Hempel, J.; Perozich, J.; Romovacek, H.; Hinich, A.; Kuo, I.; Feingold, D. S.: UDPglucose dehydrogenase from bovine liver: primary structure and relationship to other dehydrogenases. Protein Sci. 3: 1074-1080, 1994.
[0026113]16701.Marcu, O.; Stathakis, D. G.; Marsh, J. L.: Assignment of the UGDH locus encoding UDP-glucose dehydrogenase to human chromosome band 4p15.1 by radiation hybrid mapping. Cytogenet. Cell Genet. 86: 244-245, 1999.
[0026114]16702.Spicer, A. P.; Kaback, L. A.; Smith, T. J.; Seldin, M. F.: Molecular cloning and characterization of the human and mouse UDP-glucose dehydrogenase genes. J. Biol. Chem. 273: 25117-25124, 1998.
[0026115]16703.Walsh, E. C.; Stainier, D. Y. R.: UDP-glucose dehydrogenase required for cardiac valve formation in zebrafish. Science 293: 1670-1674, 2001.
[0026116]16704.Akamizu, T.; Ikuyama, S.; Saji, M.; Kosugi, S.; Kozak, C.; McBride, O. W.; Kohn, L. D.: Cloning, chromosomal assignment, and regulation of the rat thyrotropin receptor: expression of the gene is regulated by thyrotropin, agents that increase cAMP levels, and thyroid autoantibodies. Proc. Nat. Acad. Sci. 87: 5677-5681, 1990.
[0026117]16705.Reyes, R.; Duprat, F.; Lesage, F.; Fink, M.; Salinas, M.; Farman, N.; Lazdunski, M.: Cloning and expression of a novel pH-sensitive two pore domain K+ channel from human kidney. J. Biol. Chem. 273: 30863-30869, 1998.
[0026118]16706.Becker, W.; Weber, Y.; Wetzel, K.; Eirmbter, K.; Tejedor, F. J.; Joost, H.-G.: Sequence characteristics, subcellular localization, and substrate specificity of DYRK-related kinases, a novel family of dual specificity protein kinases. J. Biol. Chem. 273: 25893-25902, 1998.
[0026119]16707.Good, D.; Busfield, F.; Duffy, D.; Lovelock, P. K.; Kesting, J. B.; Cameron, D. P.; Shaw, J. T. E.: Familial Paget's disease of bone: nonlinkage to the PDB1 and PDB2 loci on chromosomes 6p and 18q in a large pedigree. J. Bone Miner. Res. 16: 33-38, 2001.
[0026120]16708.Hocking, L.; Slee, F.; Haslam, S. I.; Cundy, T.; Nicholson, G.; van Hul, W.; Ralston, S. H.: Familial Paget's disease of bone: patterns of inheritance and frequency of linkage to chromosome 18q. Bone 26: 577-580, 2000.
[0026121]16709.Marco-Mingot, M.; San-Millan, J. L.; Wuyts, W.; Bachiller-Corral, J.; Van Hul, W.; Morales-Piga, A. A.: Lack of mutations in the RANK gene in Spanish patients with Paget disease of bone. (Letter) Clin. Genet. 60: 86-88, 2001.
[0026122]16710.Li, J.; Sarosi, I.; Yan, X.-Q.; Morony, S.; Capparelli, C.; Tan, H.-L.; McCabe, S.; Elliott, R.; Scully, S.; Van, G.; Kaufman, S.; Juan, S.-C.; Sun, Y.; Tarpley, J.; Martin, L.; Christensen, K.; McCabe, J.; Kostenuik, P.; Hsu, H.; Fletcher, F.; Dunstan, C. R.; Lacey, D. L.; Boyle, W. J.: RANK is the intrinsic hematopoietic cell surface receptor that controls osteoclastogenesis and regulation of bone mass and calcium metabolism. Proc. Nat. Acad. Sci. 97: 1566-1571, 2000.
[0026123]16711.Nakagawa, N.; Kinosaki, M.; Yamaguchi, K.; Shima, N.; Yasuda, H.; Yano, K.; Morinaga, T.; Higashio, K.: RANK is the essential signaling receptor for osteoclast differentiation factor in osteoclastogenesis. Biochem. Biophys. Res. Commun. 253: 395-400, 1998.
[0026124]16712.Wuyts, W.; Van Wesenbeeck, L.; Morales-Piga, A.; Ralston, S.; Hocking, L.; Vanhoenacker, F.; Westhovens, R.; Verbruggen, L.; Anderson, D.; Hughes, A.; Van Hul, W.: Evaluation of the role of RANK and OPG genes in Paget's disease of bone. Bone 28: 104-107, 2001.
[0026125]16713.Devilder, M.-C.; Cadoret, E.; Cherel, M.; Moreau, I.; Rondeau, G.; Bezieau, S.; Moisan, J.-P.: cDNA cloning, gene characterization and 13q14.3 chromosomal assignment of CHC1-L, a chromosome condensation regulator-like guanine nucleotide exchange factor. Genomics 54: 99-106, 1998.
[0026126]16714.Phillips, N. J.; Zeigler, M. R.; Deaven, L. L.: A cDNA from the ovarian cancer critical region of deletion on chromosome 17p13.3. Cancer Lett. 102: 85-90, 1996.
[0026127]16715.Schultz, D. C.; Vanderveer, L.; Berman, D. B.; Hamilton, T. C.; Wong, A. J.; Godwin, A. K.: Identification of two candidate tumor suppressor genes on chromosome 17p13.3. Cancer Res. 56: 1997-2002, 1996.
[0026128]16716.Peyrard, M.; Parveneh, S.; Lagercrantz, S.; Ekman, M.; Fransson, I.; Sahlen, S.; Dumanski, J. P.: Cloning, expression pattern, and chromosomal assignment to 16q23 of the human gamma-adaptin gene (ADTG). Genomics 50: 275-280, 1998.
[0026129]16717.Adamou, J. E.; Aiyar, N.; Van Horn, S.; Elshourbagy, N. A.: Cloning and functional characterization of the human vasoactive intestinal peptide (VIP)-2 receptor. Biochem. Biophys. Res. Commmun. 209: 385-392, 1995.
[0026130]16718.Harmar, A. J.; Marston, H. M.; Shen, S.; Spratt, C.; West, K. M.; Sheward, W. J.; Morrison, C. F.; Dorin, J. R.; Piggins, H. D.; Reubi, J.-C.; Kelly, J. S.; Maywood, E. S.; Hastings, M. H.: The VPAC2 receptor is essential for circadian function in the mouse suprachiasmatic nuclei. Cell 109: 497-508, 2002.
[0026131]16719.Mackay, M.; Fantes, J.; Scherer, S.; Boyle, S.; West, K.; Tsui, L.-C.; Belloni, E.; Lutz, E.; Van Heyningen, V.; Harmar, A. J.: Chromosomal localization in mouse and human of the vasoactive intestinal peptide receptor type 2 gene: a possible contributor to the holoprosencephaly 3 phenotype. Genomics 37: 345-353, 1996.
[0026132]16720.Svoboda, M.; Tastenoy, M.; Van Rampelbergh, J.; Goossens, J.-F.; De Neef, P.; Waelbroeck, M.; Robberecht, P.: Molecular cloning and functional characterization of a human VIP receptor from SUP-T1 lymphoblasts. Biochem. Biophy. Res. Commun. 205: 1617-1624, 1994.
[0026133]16721.Andre, E.; Conquet, F.; Steinmayr, M.; Stratton, S. C.; Porciatti, V.; Becker-Andre, M.: Disruption of retinoid-related orphan receptor beta changes circadian behavior, causes retinal degeneration and leads to vacillans phenotype in mice. EMBO J. 17: 3867-3877, 1998.
[0026134]16722.Paravicini, G.; Steinmayr, M.; Andre, E.; Becker-Andre, M.: The metastasis suppressor candidate nucleotide diphosphate kinase NM23 specifically interacts with members of the ROR/RZR nuclear orphan receptor subfamily. Biochem. Biophys. Res. Commun. 227: 82-87, 1996.
[0026135]16723.Sirlin, J. L.: Vacillans, a neurological mutant in the house mouse linked with brown. J. Genet. 54: 42-48, 1956.
[0026136]16724.Bourdi, M.; Demady, D.; Martin, J. L.; Jabbour, S. K.; Martin, B. M.; George, J. W.; Pohl, L. R.: cDNA cloning and baculovirus expression of the human liver endoplasmic reticulum P58: characterization as a protein disulfide isomerase isoform, but not as a protease or a carnitine acyltransferase. Arch. Biochem. Biophys. 323: 397-403, 1995.
[0026137]16725.Briquet-Laugier, V.; Xia, Y.-R.; Rooke, K.; Mehrabian, M.; Lusis, A. J.; Doolittle, M. H.: Mapping of three members of the mouse protein disulfide isomerase family. Mammalian Genome 9: 176-177, 1998.
[0026138]16726.Hirano, N.; Shibasaki, F.; Sakai, R.; Tanaka, T.; Nishida, J.; Yazaki, Y.; Takenawa, T.; Hirai, H.: Molecular cloning of the human glucose-regulated protein ERp57/GRP58, a thiol-dependent reductase: identification of its secretory form and inducible expression by the oncogenic transformation. Europ. J. Biochem. 234: 336-342, 1995.
[0026139]16727.Koivunen, P.; Helaakoski, T.; Annunen, P.; Veijola, J.; Raisanen, S.; Pihlajaniemi, T.; Kivirikko, K. I.: ERp60 does not substitute for protein disulphide isomerase as the beta-subunit of prolyl 4-hydroxylase. Biochem. J. 316: 599-605, 1996.
[0026140]16728.Koivunen, P.; Horelli-Kuitunen, N.; Helaakoski, T.; Karvonen, P.; Jaakkola, M.; Palotie, A.; Kivirikko, K. I.: Structures of the human gene for the protein disulfide isomerase-related polypeptide ERp60 and a processed gene and assignment of these genes to 15q15 and 1q21. Genomics 42: 397-404, 1997.
[0026141]16729.Oliver, J. D.; van der Wal, F. J.; Bulleid, N. J.; High, S.: Interaction of the thioldependent reductase ERp57 with nascent glycoproteins. Science 275: 86-88, 1997.
[0026142]16730.Berthelsen, J.; Viggiano, L.; Schulz, H.; Ferretti, E.; Consalez, G. G.; Rocchi, M.; Blasi, F.: PKNOX1, a gene encoding PREP1, a new regulator of Pbx activity, maps on human chromosome 21q22.3 and murine chromosome 17B/C. Genomics 47: 323-324, 1998.
[0026143]16731.Chen, H.; Rossier, C.; Nakamura, Y.; Lynn, A.; Chakravarti, A.; Antonarakis, S. E.: Cloning of a novel homeobox-containing gene, PKNOX1, and mapping to human chromosome 21q22.3. Genomics 41: 193-200, 1997.
[0026144]16732.Morita, K.; Furuse, M.; Fujimoto, K.; Tsukita, S.: Claudin multigene family encoding four-transmembrane domain protein components of tight junction strands. Proc. Nat. Acad. Sci. 96: 511-516, 1999.
[0026145]16733.Chiang, P.-W.; Fogel, E.; Jackson, C. L.; Lieuallen, K.; Lennon, G.; Qu, X.; Wang, S.-Q.; Kurnit, D. M.: Isolation, sequencing, and mapping of the human homologue of the yeast transcription factor, SPT5. Genomics 38: 421-424, 1996.
[0026146]16734.Chiang, P.-W.; Stubbs, L.; Zhang, L.; Kurnit, D. M.: Isolation of murine SPT5 homologue: completion of the isolation and characterization of human and murine homologues of yeast chromatin structural protein complex SPT4, SPT5, and SPT6. Genomics 47: 426-428, 1998.
[0026147]16735.Iwaki, A.; Nagano, T.; Nakagawa, M.; Iwaki, T.; Fukumaki, Y.: Identification and characterization of the gene encoding a new member of the alpha-crystallin/Small hsp family, closely linked to the alpha-B-crystallin gene in a head-to-head manner. Genomics 45: 386-394, 1997.
[0026148]16736.de Coo, R. F. M.; Buddiger, P.; Smeets, H. J. M.; van Oost, B. A.: Molecular cloning and characterization of the human mitochondrial NADH:oxidoreductase 10-kDa gene (NDUFV3). Genomics 45: 434-437, 1997.
[0026149]16737.Canu, N.; Possenti, R.; Ricco, A. S.; Rocchi, M.; Levi, A.: Cloning, structural organization analysis, and chromosomal assignment of the human gene for the neurosecretory protein VGF. Genomics 45: 443-446, 1997.
[0026150]16738.Ferri, G.-L.; Possenti, R.: vgf: a neurotrophin-inducible gene expressed in neuroendocrine tissues. Trends Endocr. Metab. 7: 233-239, 1996.
[0026151]16739.Levi, A.; Eldridge, J. D.; Paterson, B. M.: Molecular cloning of a gene sequence regulated by nerve growth factor. Science 229: 393-395, 1985.
[0026152]16740.Salton, S. R. J.; Fischberg, D. J.; Dong, K. W.: Structure of the gene encoding VGF, a nervous system-specific mRNA that is rapidly and selectively induced by nerve growth factor in PC12 cells. Molec. Cell. Biol. 11: 2335-2349, 1991.
[0026153]16741.Gautvik, K. M.; de Lecea, L.; Gautvik, V. T.; Danielson, P. E.; Tranque, P.; Dopazo, A.; Bloom, F. E.; Sutcliffe, J. G.: Overview of the most prevalent hypothalamus-specific mRNAs as identified by directional tag PCR subtraction. Proc. Nat. Acad. Sci. 93: 8733-8738, 1996.
[0026154]16742.Green, E. D.; Olson, M. V.: Chromosomal region of the cystic fibrosis gene in yeast artificial chromosomes: a model for human genome mapping. Science 250: 94-98, 1990.
[0026155]16743.Fritzler, M. J.; Lung, C.-C.; Hamel, J. C.; Griffith, K. J.; Chan, E. K. L.: Molecular characterization of golgin-245, a novel Golgi complex protein containing a granin signature. J. Biol. Chem. 270: 31262-31268, 1995.
[0026156]16744.Gencik, M.; Dahmen, N.; Wieczorek, S.; Kasten, M.; Bierbrauer, J.; Anghelescu, I.; Szegedi, A.; Menezes Saecker, A. M.; Epplen, J. T.: A prepro-orexin gene polymorphism is associated with narcolepsy. Neurology 56: 115-117, 2001.
[0026157]16745.Hagan, J. J.; Leslie, R. A.; Patel, S.; Evans, M. L.; Wattam, T. A.; Holmes, S.; Benham, C. D.; Taylor, S. G.; Routledge, C.; Hemmati, P.; Munton, R. P.; Ashmeade, T. E.; Shah, A. S.; Hatcher, J. P.; Hatcher, P. D.; Jones, D. N. C.; Smith, M. I.; Piper, D. C.; Hunter, A. J.; Porter, R. A.; Upton, N.: Orexin A activates locus coeruleus cell firing and increases arousal in the rat. Proc. Nat. Acad. Sci. 96: 10911-10916, 1999.
[0026158]16746.Hara, J.; Beuckmann, C. T.; Nambu, T.; Willie, J. T.; Chemelli, R. M.; Sinton, C. M.; Sugiyama, F.; Yagami, K.; Goto, K.; Yanagisawa, M.; Sakurai, T.: Genetic ablation of orexin neurons in mice results in narcolepsy, hypophagia, and obesity. Neuron 30: 345-354, 2001.
[0026159]16747.Hungs, M.; Lin, L.; Okun, M.; Mignot, E.: Polymorphisms in the vicinity of the hypocretin/orexin are not associated with human narcolepsy. Neurology 57: 1893-1895, 2001.
[0026160]16748.Nishino, S.; Ripley, B.; Overeem, S.; Lammers, G. J.; Mignot, E. : Hypocretin (orexin) deficiency in human narcolepsy. Lancet 355: 39-40, 2000.
[0026161]16749.Chen, L.-S. K.; Lo, C. F.; Numann, R.; Cuddy, M.: Characterization of the human and rat phospholemman (PLM) cDNAs and localization of the human PLM gene to chromosome 19q13.1. Genomics 41: 435-443, 1997.
[0026162]16750.Sakurai, T.; Amemiya, A.; Ishii, M.; Matsuzaki, I.; Chemelli, R. M.; Tanaka, H.; Williams, S. C.; Richardson, J. A.; Kozlowski, G. P.; Wilson, S.; Arch, J. R. S.; Buckingham, R. E.; Haynes, A. C.; Carr, S. A.; Annan, R. S.; McNulty, D. E.; Liu, W.-S.; Terrett, J. A.; Elshourbagy, N. A.; Bergsma, D. J.; Yanagisawa, M.: Orexins and orexin receptors: a family of hypothalamic neuropeptides and G protein-coupled receptors that regulate feeding behavior. Cell 92: 573-585, 1998.
[0026163]16751.Heard, D. J.; Norby, P. L.; Holloway, J.; Vissing, H.: Human ERR-gamma, a third member of the estrogen receptor-related receptor (ERR) subfamily of orphan nuclear receptors: tissuespecific isoforms are expressed during development in the adult. Molec. Endocr. 14: 382-392, 2000.
[0026164]16752.Hong, H.; Yang, L.; Stallcup, M. R.: Hormone-independent transcriptional activation and coactivator binding by novel orphan nuclear receptor ERR3. J. Biol. Chem. 274: 22618-22626, 1999.
[0026165]16753.Billin, A. N.; Eilers, A. L.; Queva, C.; Ayer, D. E.: Mlx, a novel Max-like BHLHZip protein that interacts with the Max network of transcription factors. J. Biol. Chem. 274: 36344-36350, 1999.
[0026166]16754.Bjerknes, M.; Cheng, H.: TCFL4: a gene at 17q21.1 encoding a putative basic helixloop-helix leucine-zipper transcription factor. Gene 181: 7-11, 1996.
[0026167]16755.Cairo, S.; Merla, G.; Urbinati, F.; Ballabio, A.; Reymond, A.: WBSCR14, a gene mapping to the Williams-Beuren syndrome deleted region, is a new member of the Mlx transcription factor network. Hum. Molec. Genet. 10: 617-627, 2001.
[0026168]16756.Fukuoka, S.-I.; Freedman, S. D.; Scheele, G. A.: A single gene encodes membranebound and free forms of GP-2, the major glycoprotein in pancreatic secretory (zymogen) granule membranes. Proc. Nat. Acad. Sci. 88: 2898-2902, 1991.
[0026169]16757.Fukuoka, S.-I.; Freedman, S. D.; Yu, H.; Sukhatme, V. P.; Scheele, G. A.: GP-2/THP gene family encodes self-binding glycosylphosphatidylinositol-anchored proteins in apical secretory compartments of pancreas and kidney. Proc. Nat. Acad. Sci. 89: 1189-1193, 1992.
[0026170]16758.Fukuoka, S.-I.; Suzuki, M.; Okabayashi, K.; Takahashi, E.: Assignment of pancreatic zymogen granule membrane protein GP2 (GP2) to human chromosome band 9q21.11 to q21.2 by in situ hybridization. Cytogenet. Cell Genet. 79: 231-232, 1997.
[0026171]16759.Gregory, R. J.; Rich, D. P.; Cheng, S. H.; Souza, D. W.; Paul, S.; Manavalan, P.; Anderson, M. P.; Welsh, M. J.; Smith, A. E.: Maturation and function of cystic fibrosis transmembrane conductance regulator variants bearing mutations in putative nucleotide-binding domains 1 and 2. Molec. Cell. Biol. 11: 3886-3893, 1991.
[0026172]16760.Greil, I.; Wagner, K.; Rosenkranz, W.: A new missense mutation G1249E in exon 20 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Hum. Hered. 44: 238-240, 1994.
[0026173]16761.Guillermit, H.; Fanen, P.; Ferec, C.: A 3-prime splice site consensus sequence mutation in the cystic fibrosis gene. Hum. Genet. 85: 450-453, 1990.
[0026174]16762.Guillermit, H.; Jehanne, M.; Quere, I.; Audrezet, M. P.; Mercier, B.; Ferec, C.: A novel mutation in exon 3 of the CFTR gene. Hum. Genet. 91: 233-235, 1993.
[0026175]16763.Haardt, M.; Benharouga, M.; Lechardeur, D.; Kartner, N.; Lukacs, G. L.: C-terminal truncations destabilize the cystic fibrosis transmembrane conductance regulator without impairing its biogenesis: a novel class of mutation. J. Biol. Chem. 274: 21873-21877, 1999.
[0026176]16764.Hamosh, A.; King, T. M.; Rosenstein, B. J.; Corey, M.; Levison, H.; Durie, P.; Tsui, L.-C.; McIntosh, I.; Keston, M.; Brock, D. J. H.; Macek, M., Jr.; Zemkova, D.; Krasnicanova, H.; Vavrova, V.; Macek, M., Sr.; Golder, N.; Schwarz, M. J.; Super, M.; Watson, E. K.; Williams, C.; Bush, A.; O'Mahoney, S. M.; Humphries, P.; DeArce, M. A.; Reis, A.; Burger, J.; Stuhrmann, M.; Schmidtke, J.; Wulbrand, U.; Dork, T.; Tummler, B.; Cutting, G. R.: Cystic fibrosis patients bearing both the common missense mutation gly-to-asp at codon 551 and the delta-F508 mutation are clinically indistinguishable from delta-F508 homozygotes, except for decreased risk of meconium ileus. Am. J. Hum. Genet. 51: 245-250, 1992.
[0026177]16765.Hamosh, A.; Trapnell, B. C.; Zeitlin, P. L.; Montrose-Rafizadeh, C.; Rosenstein, B. J.; Crystal, R. G.; Cutting, G. R.: Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis. J. Clin. Invest. 88: 1880-1885, 1991.
[0026178]16766.Hefferon, T. W.; Broackes-Carter, F. C.; Harris, A.; Cutting, G. R.: Atypical 5-prime splice sites cause CFTR exon 9 to be vulnerable to skipping. Am. J. Hum. Genet. 71: 294-303, 2002.
[0026179]16767.Highsmith, W. E.; Burch, L. H.; Boat, T. F.; Boucher, R. C.; Silverman, L. M.; Knowles, M. R.: Identification of a homozygous point mutation in intron 19 in an inbred CF patient with mild disease and normal sweat chloride: creation of an alternative splice site resulting in base-sequence insertion in CFTR coding region between exons 19 and 20. (Abstract) Pediat. Pulmonol. Suppl. 6: 22 only, 1991.
[0026180]16768.Highsmith, W. E., Jr.: Personal Communication. Chapel Hill, N.C. 1991.
[0026181]16769.Iannuzzi, M. C.; Stern, R. C.; Collins, F. S.; Tom Hon, C.; Hidaka, N.; Strong, T.; Becker, L.; Drumm, M. L.; White, M. B.; Gerrard, B.; Dean, M.: Two frameshift mutations in the cystic fibrosis gene. Am. J. Hum. Genet. 48: 227-231, 1991.
[0026182]16770.Ivaschenko, T. E.; White, M. B.; Dean, M.; Baranov, V. S.: A deletion of two nucleotides in exon 10 of the CFTR gene in a Soviet family with cystic fibrosis causing early infant death. Genomics 10: 298-299, 1991.
[0026183]16771.Jensen, T. J.; Loo, M. A.; Pind, S.; Williams, D. B.; Goldberg, A. L.; Riordan, J. R.: Multiple proteolytic systems, including the proteasome, contribute to CFTR processing. Cell 83: 129-135, 1995.
[0026184]16772.Jiang, Q.; Engelhardt, J. F.: Cellular heterogeneity of CFTR expression and function in the lung: implications for gene therapy of cystic fibrosis. Europ. J. Hum. Genet. 6: 12-31, 1998.
[0026185]16773.Jones, C. T.; McIntosh, I.; Keston, M.; Ferguson, A.; Brock, D. J. H.: Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutation. Hum. Molec. Genet. 1: 11-17, 1992. 100. Kabra, M; Kabra, S. K.; Ghosh, M.; Khanna, A.; Arora, S.; Menon, P. S. N.; Verma, I. C.: Is the spectrum of mutations in Indian patients with cystic fibrosis different? (Letter) Am. J. Med. Genet. 93: 161-163, 2000. 101. Kalin, N.; Claass, A.; Sommer, M.; Puchelle, E.; Tummler, B. : Delta-F508 CFTR protein expression in tissues from patients with cystic fibrosis. J. Clin. Invest. 103: 1379-1389, 1999. 102. Kelley, K. A.; Stamm, S.; Kozak, C. A.: Expression and chromosome localization of the murine cystic fibrosis transmembrane conductance regulator. Genomics 13: 381-388, 1992. 103. Kerem, B.; Buchanan, J. A.; Durie, P.; Corey, M. L.; Levison, H.; Rommens, J. M.; Buchwald, M.; Tsui, L.-C.: DNA marker haplotype association with pancreatic sufficiency in cystic fibrosis. Am. J. Hum. Genet. 44: 827-834, 1989. 104. Kerem, B.; Rommens, J. M.; Buchanan, J. A.; Markiewicz, D.; Cox, T. K.; Chakravarti, A.; Buchwald, M.; Tsui, L.-C.: Identification of the cystic fibrosis gene: genetic analysis. Science 245: 1073-1080, 1989. 105. Kerem, B.; Zielenski, J.; Markiewicz, D.; Bozon, D.; Gazit, E.; Yahav, J.; Kennedy, D.; Riordan, J. R.; Collins, F. S.; Rommens, J. M.; Tsui, L.-C.: Identification of mutations in regions corresponding to the 2 putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. Proc. Nat. Acad. Sci. 87: 8447-8451, 1990. 106. Kerem, E.; Corey, M.; Kerem, B.; Rommens, J.; Markiewicz, D.; Levison, H.; Tsui, L.-C.; Durie, P.: The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta-F508). New Eng. J. Med. 323: 1517-1522, 1990. 107. Kerem, E.; Kalman, Y. M.; Yahav, Y.; Shoshani, T.; Abeliovich, D.; Szeinberg, A.; Rivlin, J.; Blau, H.; Tal, A.; Ben-Tur, L.; Springer, C.; Augarten, A.; Godfrey, S.; Lerer, I.; Branski, D.; Friedman, M.; Kerem, B.: Highly variable incidence of cystic fibrosis and different mutation distribution among different Jewish ethnic groups in Israel. Hum. Genet. 96: 193-197, 1995. 108. Kiesewetter, S.; Macek, M., Jr.; Davis, C.; Curristin, S. M.; Chu, C.-S.; Graham, C.; Shrimpton, A. E.; Cashman, S. M.; Tsui, L.-C.; Mickle, J.; Amos, J.; Highsmith, W. E.; Shuber, A.; Witt, D. R.; Crystal, R. G.; Cutting, G. R.: A mutation in CFTR produces different phenotypes depending on chromosomal background. Nature Genet. 5: 274-278, 1993. 109. Klinger, K.; Horn, G. T.; Stanislovitis, P.; Schwartz, R. H.; Fujiwara, T. M.; Morgan, K.: Cystic fibrosis mutations in the Hutterite brethren. Am. J. Hum. Genet. 46: 983-987, 1990. 110. Kobayashi, K.; Knowles, M. R.; Boucher, R. C.; O'Brien, W. E.; Beaudet, A. L.: Benign missense variations in the cystic fibrosis gene. Am. J. Hum. Genet. 47: 611-615, 1990. 111. Kocher, O.; Comella, N.; Tognazzi, K.; Brown, L. F.: Identification and partial characterization of PDZK1: a novel protein containing PDZ interaction domains. Lab. Invest. 78: 117-125, 1998. 112. Konstan, M. W.; Byard, P. J.; Hoppel, C. L.; Davis, P. B.: Effect of high-dose ibuprofen in patients with cystic fibrosis. New Eng. J. Med. 332: 848-854, 1995. 113. Laroche, D.; Travert, G.: Abnormal frequency of delta-F(508) mutation in neonatal transitory hypertrypsinaemia. (Letter) Lancet 337: 55 only, 1991. 114. Latham, T.; Grabowski, G. A.; Theophilus, B. D. M.; Smith, F. I.: Complex alleles of the acid beta-glucosidase gene in Gaucher disease. Am. J. Hum. Genet. 47: 79-86, 1990. 115. Leoni, G.; Pitzalis, S.; Podda, R.; Zanda, M.; Silvetti, M.; Caocci, L.; Cao, A.; Rosatelli, M. C.: A specific cystic fibrosis mutation (T338I) associated with the phenotype of isolated hypotonic dehydration. J. Pediat. 127: 281-283, 1995. 116. Lerer, I.; Sagi, M.; Cutting, G. R.; Abeliovich, D.: Cystic fibrosis mutations delta-F508 and G542X in Jewish patients. J. Med. Genet. 29: 131-133, 1992. 117. Logan, J.; Hiestand, D.; Daram, P.; Huang, Z.; Muccio, D. D.; Hartman, J.; Haley, B.; Cook, W. J.; Sorscher, E. J.: Cystic fibrosis transmembrane conductance regulator mutations that disrupt nucleotide binding. J. Clin. Invest. 94: 228-236, 1994. 118. Loirat, F.; Hazout, S.; Lucotte, G.: G542X as a probable Phoenician cystic fibrosis mutation. Hum. Biol. 69: 419-425, 1997. 119. Marino, C. R.; Matovcik, L. M.; Gorelick, F. S.; Cohn, J. A. : Localization of the cystic fibrosis transmembrane conductance regulator in pancreas. J. Clin. Invest. 88: 712-716, 1991. 120. Marshal, R. D.; Koontz, J.; Sklar, J.: Detection of mutations by cleavage of DNA heteroduplexes with bacteriophage resolvases. Nature Genet. 9: 177-183, 1995. 121. McCombie, W. R.; Adams, M. D.; Kelley, J. M.; FitzGerald, M. G.; Utterback, T. R.; Khan, M.; Dubnick, M.; Kerlavage, A. R.; Venter, J. C.; Fields, C.: Caenorhabditis elegans expressed sequence tags identify gene families and potential disease gene homologues. Nature Genet. 1: 124-131, 1992. 122. Mickle, J. E.; Macek, M., Jr.; Fulmer-Smentek, S. B.; Egan, M. M.; Schwiebert, E.; Guggino, W.; Moss, R.; Cutting, G. R.: A mutation in the cystic fibrosis transmembrane conductance regulator gene associated with elevated sweat chloride concentrations in the absence of cystic fibrosis. Hum. Molec. Genet. 7: 729-735, 1998. 123. Mickle, J. E.; Milewski, M. I.; Macek, M., Jr.; Cutting, G. R. : Effects of cystic fibrosis and congenital bilateral absence of the vas deferens-associated mutations on cystic fibrosis transmembrane conductance regulator-mediated regulation of separate channels. Am. J. Hum. Genet. 66: 1485-1495, 2000. 124. Morral, N.; Nunes, V.; Casals, T.; Estivill, X.: CA/GT microsatellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossing-over. Genomics 10: 692-698, 1991. 125. Moyer, B. D.; Duhaime, M.; Shaw, C.; Denton, J.; Reynolds, D.; Karlson, K. H.; Pfeiffer, J.; Wang, S.; Mickle, J. E.; Milewski, M.; Cutting, G. R.; Guggino, W. B.; Li, M.; Stanton, B. A.: The PDZ-interacting domain of cystic fibrosis transmembrane conductance regulator is required for functional expression in the apical plasma membrane. J. Biol. Chem. 275: 27069-27074, 2000. 126. Nelson, P. V.; Carey, W. F.; Morris, C. P.: Identification of a cystic fibrosis mutation: deletion of isoleucine-506. Hum. Genet. 86: 391-393, 1991. 127. Nunes, V.; Bonizzato, A.; Gaona, A.; Dognini, M.; Chillon, M.; Casals, T.; Pignatti, P. F.; Novelli, G.; Estivill, X.; Gasparini, P.: A frameshift mutation (2869insG) in the second transmembrane domain of the CFTR gene: identification, regional distribution, and clinical presentation. (Letter) Am. J. Hum. Genet. 50: 1140-1142, 1992. 128. Nunes, V.; Casals, T.; Gaona, A.; Antinolo, G.; Ferrer-Calvete, J.; Perez-Frias, J.; Tardio, E.; Molano, J.; Estivill, X.: Cystic fibrosis patients with mutation 1949del84 in exon 13 of the CFTR gene have a similar clinical severity as delF508 homozygotes. Hum. Mutat. 1: 375-379, 1992. 129. Nunes, V.; Chillon, M.; Dork, T.; Tummler, B.; Casals, T.; Estivill, X.: A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype. Hum. Molec. Genet. 2: 79-80, 1993. 130. Nunes, V.; Gasparini, P.; Novelli, G.; Gaona, A.; Bonizzato, A.; Sangiuolo, F.; Balassopoulou, A.; Gimenez, F. J.; Dognini, M.; Ravnik-Glavac, M.; Cikuli, M.; Mokini, V.; Komel, R.; Dallapiccola, B.; Pignatti, P. F.; Loukopoulos, D.; Casals, T.; Estivill, X.: Analysis of 14 cystic fibrosis mutations in five south European populations. Hum. Genet. 87: 737-738, 1991. 131. Orita, M.; Iwahana, H.; Kanazawa, H.; Hayashi, K.; Sekiya, T. : Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc. Nat. Acad. Sci. 86: 2766-2770, 1989. 132. Orita, M.; Suzuki, Y.; Sekiya, T.; Hayashi, K.: Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5: 874-879, 1989. 133. Orozco, L.; Friedman, K.; Chavez, M.; Lezana, J. L.; Villarreal, M. T.; Carnevale, A.: Identification of the I507 deletion by site-directed mutagenesis. Am. J. Med. Genet. 51: 137-139, 1994. 134. Osborne, L.; Knight, R.; Santis, G.; Hodson, M.: A mutation in the second nucleotide binding fold of the cystic fibrosis gene. Am. J. Hum. Genet. 48: 608-612, 1991. 135. Osborne, L.; Santis, G.; Schwarz, M.; Klinger, K.; Dork, T.; McIntosh, I.; Schwartz, M.; Nunes, V.; Macek, M., Jr.; Reiss, J.; 46 others: Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene. Hum. Genet. 89: 653-658, 1992. 136. Pier, G. B.; Grout, M.; Zaidi, T.; Meluleni, G.; Mueschenborn, S. S.; Banting, G.; Ratcliff, R.; Evans, M. J.; Colledge, W. H.: Salmonella typhi uses CFTR to enter intestinal epithelial cells. Nature 393: 79-82, 1998. 137. Pier, G. B.; Grout, M.; Zaldi, T. S.; Olsen, J. C.; Johnson, L. G.; Yankaskas, J. R.; Goldberg, J. B.: Role of mutant CFTR in hypersusceptibility of cystic fibrosis patients to lung infections. Science 271: 63-67, 1996. 138. Pignatti, P. F.; Bombieri, C.; Benetazzo, M.; Casartelli, A.; Trabetti, E.; Gile, L. S.; Martinati, L. C.; Boner, A. L.; Luisetti, M.: CFTR gene variant IVS8-5T in disseminated bronchiectasis. (Letter) Am. J. Hum. Genet. 58: 889-892, 1996. 139. Pind, S.; Riordan, J. R.; Williams, D. B.: Participation of the endoplasmic reticulum chaperone calnexin (p88,IP90) in the biogenesis of the cystic fibrosis transmembrane conductance regulator. J. Biol. Chem. 269: 12784-12788, 1994. 140. Ramjeesingh, M.; Li, C.; Garami, E.; Huan, L.-J.; Galley, K.; Wang, Y.; Bear, C. E.: Walker mutations reveal loose relationship between catalytic and channel-gating activities of purified CFTR (cystic fibrosis transmembrane conductance regulator). Biochemistry 38: 1463-1468, 1999. 141. Reddy, M. M.; Light, M. J.; Quinton, P. M.: Activation of the epithelial Na(+) channel (ENaC) requires CFTR CI(-) channel function. Nature 402: 301-304, 1999. 142. Rich, D. P.; Anderson, M. P.; Gregory, R. J.; Cheng, S. H.; Paul, S.; Jefferson, D. M.; McCann, J. D.; Klinger, K. W.; Smith, A. E.; Welsh, M. J.: Expression of cystic fibrosis transmembrane conductance regulator corrects defective chloride channel regulation in cystic fibrosis airway epithelial cells. Nature 347: 358-363, 1990. 143. Riordan, J. R.; Rommens, J. M.; Kerem, B.; Alon, N.; Rozmahel, R.; Grzelczak, Z.; Zielenski, J.; Lok, S.; Plavsic, N.; Chou, J. L.; Drumm, M. L.; Iannuzzi, M. C.; Collins, F. S.; Tsui, L.-C.: Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 245: 1066-1073, 1989. 144. Romey, M.-C.; Aguilar-Martinez, P.; Demaille, J.; Claustres, M.: Rapid detection of single nucleotide deletions: application to the beta-6 (-A) mutation of the beta-globin gene and to cystic fibrosis. Hum. Genet. 92: 627-628, 1993. 145. Romey, M.-C.; Desgeorges, M.; Laussel, M.; Durand, M.-F.; Demaille, J.; Claustres, M.: Two novel rare frameshift mutations (2423 del G in exon 13 and 1215 del G in exon 7) and one novel rare sequence variation (3271 + 18 C or T) identified in a patient with cystic fibrosis. Hum. Molec. Genet. 3: 1003-1004, 1994. 146. Romey, M.-C.; Guittard, C.; Carles, S.; Demaille, J.; Claustres, M.; Ramsay, M.: First putative sequence alterations in the minimal CFTR promoter region. (Letter) J. Med. Genet. 36: 263-264, 1999. 147. Romey, M.-C.; Guittard, C.; Chazalette, J.-P.; Frossard, P.; Dawson, K. P.; Patton, M. A.; Casals, T.; Bazarbachi, T.; Girodon, E.; Rault, G.; Bozon, D.; Seguret, F.; Demaille, J.; Claustres, M. : Complex allele (-102T-to-A+S549R(T-to-G) is associated with milder forms of cystic fibrosis than allele S549R(T-to-G) alone. Hum. Genet. 105: 145-150, 1999. 148. Romey, M.-C.; Pallares-Ruiz, N.; Mange, A.; Mettling, C.; Peytavi, R.; Demaille, J.; Claustres, M.: A naturally occurring sequence variation that creates a YY1 element is associated with increased cystic fibrosis transmembrane conductance regulator gene expression. J. Biol. Chem. 275: 3561-3567, 2000. 149. Rommens, J. M.; Iannuzzi, M. C.; Kerem, B.; Drumm, M. L.; Melmer, G.; Dean, M.; Rozmahel, R.; Cole, J. L.; Kennedy, D.; Hidaka, N.; Zsiga, M.; Buchwald, M.; Riordan, J. R.; Tsui, L.-C.; Collins, F. S.: Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 245: 1059-1065, 1989. 150. Ronchetto, P.; Telleria Orriols, J. J.; Fanen, P.; Cremonesi, L.; Ferrari, M.; Magnani, C.; Seia, M.; Goossens, M.; Romeo, G.; Devoto, M.: A nonsense mutation (R1158X) and a splicing mutation (3849 + 4A-to-G) in exon 19 of the cystic fibrosis transmembrane conductance regulator gene. Genomics 12: 417-418, 1992. 151. Rosenfeld, M. A.; Yoshimura, K.; Trapnell, B. C.; Yoneyama, K.; Rosenthal, E. R.; Dalemans, W.; Fukayama, M.; Bargon, J.; Stier, L. E.; Stratford-Perricaudet, L.; Perricaudet, M.; Guggino, W. B.; Pavirani, A.; Lecocq, J.-P.; Crystal, R. G.: In vivo transfer of the human cystic fibrosis transmembrane conductance regulator gene to the airway epithelium. Cell 68: 143-155, 1992. 152. Rowntree, R. K.; Vassaux, G.; McDowell, T. L.; Howe, S.; McGuigan, A.; Phylactides, M.; Huxley, C.; Harris, A.: An element in intron 1 of the CFTR gene augments intestinal expression in vivo. Hum. Molec. Genet. 10: 1455-1464, 2001. 153. Rozen, R.; De Braekeleer, M.; Daigneault, J.; Ferreira-Rajabi, L.; Gerdes, M.; Lamoureux, L.; Aubin, G.; Simard, F.; Fujiwara, T. M.; Morgan, K.: Cystic fibrosis mutations in French Canadians: three CFTR mutations are relatively frequent in a Quebec population with an elevated incidence of cystic fibrosis. Am. J. Med. Genet. 42: 360-364, 1992. 154. Rozen, R.; Ferreira-Rajabi, L.; Robb, L.; Colman, N.: L206W mutation of the cystic fibrosis gene, relatively frequent in French Canadians, is associated with atypical presentations of cystic fibrosis. Am. J. Med. Genet. 57: 437-439, 1995. 155. Rozen, R.; Schwartz, R. H.; Hilman, B. C.; Stanislovitis, P.; Horn, G. T.; Klinger, K.; Daigneault, J.; De Braekeleer, M.; Kerem, B.; Tsui, L.-C.; Fujiwara, T. M.; Morgan, K.: Cystic fibrosis mutations in North American populations of French ancestry: analysis of Quebec French-Canadian and Louisiana Acadian families. Am. J. Hum. Genet. 47: 606-610, 1990. 156. Russo, M. P.; Romeo, G.; Devoto, M.; Barbujani, G.; Cabrini, G.; Giunta, A.; D'Alcamo, E.; Leoni, G.; Sangiuolo, F.; Magnani, C.; Cremonesi, L.; Ferrari, M.: Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian population. Hum. Mutat. 5: 23-27, 1995. 157. Sangiuolo, F.; Cicero, S. L.; Maceratesi, P.; Quattrucci, S.; Novelli, G.; Dallapiccola, B.: Molecular characterization of a frameshift mutation in exon 19 of the CFTR gene. Hum. Mutat. 2: 422-424, 1993. 158. Sangiuolo, F.; Novelli, G.; Murru, S.; Dallapiccola, B.: A serine-to-arginine (AGT-to-CGT) mutation in codon 549 of the CFTR gene in an Italian patient with severe cystic fibrosis. Genomics 9: 788-789, 1991. 159. Sato, S.; Ward, C. L.; Kopito, R. R.: Cotranslational ubiquitination of cystic fibrosis transmembrane conductance regulator in vitro. J. Biol. Chem. 273: 7189-7192, 1998. 160. Sato, S.; Ward, C. L.; Krouse, M. E.; Wine, J. J.; Kopito, R. R.: Glycerol reverses the misfolding phenotype of the most common cystic fibrosis mutation. J. Biol. Chem. 271: 635-638, 1996. 161. Schaedel, C.; Kristoffersson, A.-C.; Kornfalt, R.; Holmberg, L.: A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR. Hum. Molec. Genet. 3: 1001-1002, 1994. 162. Schwartz, M.; Anvret, M.; Claustres, M.; Geir Eiken, H.; Eiklid, K.; Schaedel, C.; Stolpe, L.; Tranebjaerg, L.: 394delTT: a Nordic cystic fibrosis mutation. Hum. Genet. 93: 157-161, 1994. 163. Schwiebert, E. M.; Egan, M. E.; Hwang, T.-H.; Fulmer, S. B.; Allen, S. S.; Cutting, G. R.; Guggino, W. B.: CFTR regulates outwardly rectifying chloride channels through an autocrine mechanism involving ATP. Cell 81: 1063-1073, 1995. 164. Scotet, V.; De Braekeleer, M.; Audrezet, M.-P.; Lode, L.; Verlingue, C.; Quere, I.; Mercier, B.; Dugueperoux, I.; Codet, J.-P.; Moineau, M.-P.; Parent, P.; Ferec, C.: Prevalence of CFTR mutations in hypertrypsinaemia detected through neonatal screening for cystic fibrosis. Clin. Genet. 59: 42-47, 2001. 165. Sharer, N.; Schwarz, M.; Malone, G.; Howarth, A.; Painter, J.; Super, M.; Braganza, J.: Mutations of the cystic fibrosis gene in patients with chronic pancreatitis. New Eng. J. Med. 339: 645-652, 1998. 166. Sheppard, D. N.; Rich, D. P.; Ostedgaard, L. S.; Gregory, R. J.; Smith, A. E.; Welsh, M. J.: Mutations in CFTR associated with mild-disease form CI- channels with altered pore properties. Nature 362: 160-164, 1993. 167. Shoshani, T.; Augarten, A.; Gazit, E.; Bashan, N.; Yahav, Y.; Rivlin, Y.; Tal, A.; Seret, H.; Yaar, L.; Kerem, E.; Kerem, B.: Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease. Am. J. Hum. Genet. 50: 222-228, 1992. 168. Shoshani, T.; Augarten, A.; Yahav, J.; Gazit, E.; Kerem, B.: Two novel mutations in the CFTR gene: W1089X in exon 17B and 4010delTATT in exon 21. Hum. Molec. Genet. 3: 657-658, 1994. 169. Shoshani, T.; Berkun, Y.; Yahav, Y.; Augarten, A.; Bashan, N.; Rivlin, Y.; Gazit, E.; Sereth, H.; Kerem, E.; Kerem, B.: A new mutation in the CFTR gene, composed of two adjacent DNA alterations, is a common cause of cystic fibrosis among Georgian Jews. Genomics 15: 236-237, 1993. 170. Shoshani, T.; Kerem, E.; Szeinberg, A.; Augarten, A.; Yahav, Y.; Cohen, D.; Rivlin, J.; Tal, A.; Kerem, B. S.: Similar levels of mRNA from the W1282X and the delta-F508 cystic fibrosis alleles, in nasal epithelial cells. J. Clin. Invest. 93: 1502-1507, 1994. 171. Siegel, D.; Irving, N. G.; Friedman, J. M.; Wainwright, B. J. : Localization of the cystic fibrosis transmembrane conductance regulator (Cftr) to mouse chromosome 6. Cytogenet. Cell Genet. 61: 184-185, 1992. 172. Smit, L. S.; Nasr, S. Z.; Iannuzzi, M. C.; Collins, F. S.: An African-American cystic fibrosis patient homozygous for a novel frameshift mutation associated with reduced CFTR mRNA levels. Hum. Mutat. 2: 148-151, 1993. 173. Smit, L. S.; Strong, T. V.; Wilkinson, D. J.; Macek, M., Jr.; Mansoura, M. K.; Wood, D. L.; Cole, J. L.; Cutting, G. R.; Cohn, J. A.; Dawson, D. C.; Collins, F. S.: Missense mutation (G480C) in the CFTR gene associated with protein mislocalization but normal chloride channel activity. Hum. Molec. Genet. 4: 269-273, 1995. 174. Snouwaert, J. N.; Brigman, K. K.; Latour, A. M.; Malouf, N. N.; Boucher, R. C.; Smithies, O.; Koller, B. H.: An animal model for cystic fibrosis made by gene targeting. Science 257: 1083-1088, 1992. 175. Stern, R. C.: The diagnosis of cystic fibrosis. New Eng. J. Med. 336: 487-491, 1997. 176. Strong, T. V.; Smit, L. S.; Nasr, S.; Wood, D. L.; Cole, J. L.; Iannuzzi, M. C.; Stern, R. C.; Collins, F. S.: Characterization of an intron 12 splice donor mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Hum. Mutat. 1: 380-387, 1992. 177. Strong, T. V.; Smit, L. S.; Turpin, S. V.; Cole, J. L.; Tom Hon, C.; Markiewicz, D.; Petty, T. L.; Craig, M. W.; Rosenow, E. C., III; Tsui, L.-C.; Iannuzzi, M. C.; Knowles, M. R.; Collins, F. S.: Cystic fibrosis gene mutation in two sisters with mild disease and normal sweat electrolyte levels. New Eng. J. Med. 325: 1630-1634, 1991. 178. Tata, F.; Stanier, P.; Wicking, C.; Halford, S.; Kruyer, H.; Lench, N. J.; Scambler, P. J.; Hansen, C.; Braman, J. C.; Williamson, R.; Wainwright, B. J.: Cloning the mouse homolog of the human cystic fibrosis transmembrane conductance regulator gene. Genomics 10: 301-307, 1991. 179. Teng, H.; Jorissen, M.; Van Poppel, H.; Legius, E.; Cassiman, J.-J.; Cuppens, H.: Increased proportion of exon 9 alternatively spliced CFTR transcripts in vas deferens compared with nasal epithelial cells. Hum. Molec. Genet. 6: 85-90, 1997. 180. The Cystic Fibrosis Genotype-Phenotype Consortium: Correlation between genotype and phenotype in patients with cystic fibrosis. New Eng. J. Med. 329: 1308-1313, 1993. 181. Trapnell, B. C.; Chu, C.-S.; Paakko, P. K.; Banks, T. C.; Yoshimura, K.; Ferrans, V. J.; Chernick, M. S.; Crystal, R. G.: Expression of the cystic fibrosis transmembrane conductance regulator gene in the respiratory tract of normal individuals and individuals with cystic fibrosis. Proc. Nat. Acad. Sci. 88: 6565-6569, 1991. 182. Trezise, A. E. O.; Szpirer, C.; Buchwald, M.: Localization of the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) in the rat to chromosome 4 and implications for the evolution of mammalian chromosomes. Genomics 14: 869-874, 1992. 183. Van Doorninck, J. H.; French, P. J.; Verbeek, E.; Peters, R. H. P. C.; Morreau, H.; Bijman, J.; Scholte, B. J.: A mouse model for the cystic fibrosis delta-F508 mutation. EMBO J. 14: 4403-4411, 1995. 184. Varon, R.; Magdorf, K.; Staab, D.; Wahn, H.-U.; Krawczak, M.; Sperling, K.; Reis, A.: Recurrent nasal polyps as a monosymptomatic form of cystic fibrosis associated with a novel in-frame deletion (591del18) in the CFTR gene. Hum. Molec. Genet. 4: 1463-1464, 1995. 185. Varon, R.; Stuhrmann, M.; Macek, M., Jr.; Kufardjieva, A.; Angelicheva, D.; Magdorf, K.; Jordanova, A.; Savov, A.; Wahn, U.; Macek, M.; Lalov, V.; Ivanova, T.; Ellemunter, H.; Vavrova, V.; Ferak, V.; Kayserova, H.; Reis, A.; Kalaydjieva, L.: Pancreatic insufficiency and pulmonary disease in German and Slavic cystic fibrosis patients with the R347P mutation. Hum. Mutat. 6: 219-225, 1995. 186. Verlingue, C.; Mercier, B.; Lecoq, I.; Audrezet, M. P.; Laroche, D.; Travert, G.; Ferec, C.: Retrospective study of the cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Guthrie cards from a large cohort of neonatal screening for cystic fibrosis. Hum. Genet. 93: 429-434, 1994. 187. Vidaud, M.; Fanen, P.; Martin, J.; Ghanem, N.; Nicolas, S.; Goossens, M.: Three point mutations in the CFTR gene in French cystic fibrosis patients: identification by denaturing gradient gel electrophoresis. Hum. Genet. 85: 446-449, 1990. 188. Vidaud, M.; Gattoni, R.; Stevenin, J.; Vidaud, D.; Amselem, S.; Chibani, J.; Rosa, J.; Goossens, M.: A 5-prime splice-region G-to-C mutation in exon 1 of the human beta-globin gene inhibits pre-mRNA splicing: a mechanism for beta(+)-thalassemia. Proc. Nat. Acad. Sci. 86: 1041-1045, 1989. 189. Wang, J.; Bowman, M. C.; Hsu, E.; Wertz, K.; Wong, L.-J. C.: A novel mutation in the CFTR gene correlates with severe clinical phenotype in seven Hispanic patients. J. Med. Genet. 37: 215-218, 2000. 190. Wang, S.; Yue, H.; Derin, R. B.; Guggino, W. B.; Li, M.: Accessory protein facilitated CFTR-CFTR interaction, a molecular mechanism to potentiate the chloride channel activity. Cell 103: 169-179, 2000. 191. Waterston, R.; Martin, C.; Craxton, M.; Huynh, C.; Coulson, A.; Hillier, L.; Durbin, R.; Green, P.; Shownkeen, R.; Halloran, N.; Metzstein, M.; Hawkins, T.; Wilson, R.; Berks, M.; Du, Z.; Thomas, K.; Thierry-Mieg, J.; Sulston, J.: A survey of expressed genes in Caenorhabditis elegans. Nature Genet. 1: 114-123, 1992. 192. Wauters, J. G.; Hendrickx, J.; Coucke, P.; Vits, L.; Stuer, K.; van Schil, L.; van der Auwera, B. J.; Van Elsen, A.; Dumon, J.; Willems, P. J.: Frequency of the phenylalanine deletion (delta-F508) in the CF gene of Belgian cystic fibrosis patients. Clin. Genet. 39: 89-92, 1991. 193. Wei, L.; Vankeerberghen, A.; Cuppens, H.; Droogmans, G.; Cassiman, J.-J.; Nilius, B.: Phosphorylation site independent single Rdomain mutations affect CFTR channel activity. FEBS Lett. 439: 121-126, 1998. 194. Weixel, K. M.; Bradbury, N. A.: The carboxyl terminus of the cystic fibrosis transmembrane conductance regulator binds to AP-2 clathrin adaptors. J. Biol. Chem. 275: 3655-3660, 2000. 195. White, M. B.; Amos, J.; Hsu, J. M. C.; Gerrard, B.; Finn, P.; Dean, M.: A frame shift mutation in the cystic fibrosis gene. Nature 344: 655-667, 1990. 196. White, M. B.; Leppert, M.; Nielsen, D.; Zielenski, J.; Gerrard, B.; Stewart, C.; Dean, M.: A de novo cystic fibrosis mutation: CGA (arg) to TGA (stop) at codon 851 of the CFTR gene. Genomics 11: 778-779, 1991. 197. White, S. M.; Lucassen, A.; Norbury, G.: Cystic fibrosis: a further case of an asymptomatic compound heterozygote. (Letter) Am. J. Med. Genet. 103: 342-343, 2001. 198. Will, K.; Dork, T.; Stuhrmann, M.; Meitinger, T.; Bertele-Harms, R.; Tummler, B.; Schmidtke, J.: A novel exon in the cystic fibrosis transmembrane conductance regulator gene activated by the nonsense mutation E92X in airway epithelial cells of patients with cystic fibrosis. J. Clin. Invest. 93: 1852-1859, 1994. 199. Yang, Y.; Devor, D. C.; Engelhardt, J. F.; Ernst, S. A.; Strong, T. V.; Collins, F. S.; Cohn, J. A.; Frizzell, R. A.; Wilson, J. M. : Molecular basis of defective anion transport in L cells expressing recombinant forms of CFTR. Hum. Molec. Genet. 2: 1253-1261, 1993. 200. Yang, Y.; Janich, S.; Cohn, J. A.; Wilson, J. M.: The common variant of cystic fibrosis transmembrane conductance regulator is recognized by hsp70 and degraded in a pre-Golgi nonlysosomal compartment. Proc. Nat. Acad. Sci. 90: 9480-9484, 1993. 201. Yang, Y.; Raper, S. E.; Cohn, J. A.; Engelhardt, J. F.; Wilson, J. M.: An approach for treating the hepatobiliary disease of cystic fibrosis by somatic gene transfer. Proc. Nat. Acad. Sci. 90: 4601-4605, 1993. 202. Youil, R.; Kemper, B. W.; Cotton, R. G. H.: Screening for mutations by enzyme mismatch cleavage with T4 endonuclease VII. Proc. Nat. Acad. Sci. 92: 87-91, 1995. 203. Zeiher, B. G.; Eichwald, E.; Zabner, J.; Smith, J. J.; Puga, A. P.; McCray, P. B., Jr.; Capecchi, M. R.; Welsh, M. J.; Thomas, K. R.: A mouse model for the delta-F508 allele of cystic fibrosis. J. Clin. Invest. 96: 2051-2064, 1995. 204. Zeitlin, P. L.; Crawford, I.; Lu, L.; Woel, S.; Cohen, M. E.; Donowitz, M.; Montrose, M. H.; Hamosh, A.; Cutting, G. R.; Gruenert, D.; Huganir, R.; Maloney, P.; Guggino, W. B.: CFTR protein expression in primary and cultured epithelia. Proc. Nat. Acad. Sci. 89: 344-347, 1992. 205. Zhang, F.; Kartner, N.; Lukacs, G. L.: Limited proteolysis as a probe for arrested conformational maturation of deltaF508 CFTR. Nature Struct. Biol. 5: 180-183, 1998. 206. Zielenski, J.; Bozon, D.; Kerem, B.; Markiewicz, D.; Durie, P.; Rommens, J. M.; Tsui, L.-C.: Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics 10: 229-235, 1991. 207. Zielenski, J.; Markiewicz, D.; Rininsland, F.; Rommens, J.; Tsui, L.-C.: A cluster of highly polymorphic dinucleotide repeats in intron 17b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Am. J. Hum. Genet. 49: 1256-1262, 1991. 208. Zielenski, J.; Patrizio, P.; Corey, M.; Handelin, B.; Markiewicz, D.; Asch, R.; Tsui, L.-C.: CFTR gene variant for patients with congenital absence of vas deferens. (Letter) Am. J. Hum. Genet. 57: 958-960, 1995.
[0026186]16774.Martin, F.; Schaller, A.; Eglite, S.; Schumperli, D.; Muller, B. : The gene for histone RNA hairpin binding protein is located on human chromosome 4 and encodes a novel type of RNA binding protein. EMBO J. 16: 769-778, 1997.
[0026187]16775.Wang, Z.-F.; Whitfield, M. L.; Ingledue, T. C., III; Dominski, Z.; Marzluff, W. F.: The protein that binds the 3-prime end of histone mRNA: a novel RNA-binding protein required for histone pre-mRNA processing. Genes Dev. 10: 3028-3040, 1996.
[0026188]16776.Kooy, J.; Toh, B.-H.; Pettitt, J. M.; Erlich, R.; Gleeson, P. A. : Human autoantibodies as reagents to conserved Golgi components: characterization of a peripheral, 230-kDa compartmentspecific Golgi protein. J. Biol. Chem. 267: 20255-20263, 1992.
[0026189]16777.Marneros, A. G.; Mehenni, H.; Reichenberger, E.; Antonarakis, S. E.; Krieg, T.; Olsen, B. R.: Gene for the human transmembrane-type protein tyrosine phosphatase H (PTPRH): genomic structure, fine-mapping and its exclusion as a candidate for Peutz-Jeghers syndrome. Cytogenet. Cell Genet. 92: 213-216, 2001.
[0026190]16778.Matozaki, T.; Suzuki, T.; Uchida, T.; Inazawa, J.; Ariyama, T.; Matsuda, K.; Horita, K.; Noguchi, H.; Mizuno, H.; Sakamoto, C.; Kasuga, M.: Molecular cloning of a human transmembranetype protein tyrosine phosphatase and its expression in gastrointestinal cancers. J. Biol. Chem. 269: 2075-2081, 1994.
[0026191]16779.Seo, Y.; Matozaki, T.; Tsuda, M.; Hayashi, Y.; Itoh, H.; Kasuga, M.: Overexpression of SAP-1, a transmembrane-type protein tyrosine phosphatase, in human colorectal cancers. Biochem. Biophys. Res. Commun. 231: 705-711, 1997.
[0026192]16780.Snow, B. E.; Antonio, L.; Suggs, S.; Gutstein, H. B.; Siderovski, D. P.: Molecular cloning and expression analysis of rat Rgs12 and Rgs14. Biochem. Biophys. Res. Commun. 233: 770-777, 1997.
[0026193]16781.Kimple, R. J.; Kimple, M. E.; Betts, L.; Sondek, J.; Siderovski, D. P.: Structural determinants for GoLoco-induced inhibition of nucleotide release by G-alpha subunits. Nature 416: 878-881, 2002.
[0026194]16782.Takesono, A.; et al; et al: Receptor-independent activators of heterotrimeric G-protein signalling pathways. J. Biol. Chem. 274: 33202-33205, 1999.
[0026195]16783.Traver, S.; Bidot, C.; Spassky, N.; Baltauss, T.; de Tand, M.-F.; Thomas, J.-L.; Zalc, B.; Janoueix-Lerosey, I.; de Gunzburg, J.: RGS14 is a novel Rap effector that preferentially regulates the GTPase activity of G-alpha-0. Biochem. J. 350: 19-29, 2000.
[0026196]16784.Zheng, B.; Chen, D.; Farquhar, M. G.: MIR16, a putative membrane glycerophosphodiester phosphodiesterase, interacts with RGS16. Proc. Nat. Acad. Sci. 97: 3999-4004, 2000.
[0026197]16785.Schmitz, F.; Konigstorfer, A.; Sudhof, T. C.: RIBEYE, a component of synaptic ribbons: a protein's journey through evolution provides insight into synaptic ribbon function. Neuron 28: 857-872, 2000.
[0026198]16786.Dale, M.; Hammond, D. W.; Cox, A.; Nicklin, M. J. H.: The human gene encoding the interleukin-1 receptor accessory protein (IL1RAP) maps to chromosome 3q28 by fluorescence in situ hybridization and radiation hybrid mapping. Genomics 47: 325-326, 1998.
[0026199]16787.Huang, J.; Gao, X.; Li, S.; Cao, Z.: Recruitment of IRAK to the interleukin 1 receptor complex requires interleukin 1 receptor accessory protein. Proc. Nat. Acad. Sci. 94: 12829-12832, 1997.
[0026200]16788.Wesche, H.; Korherr, C.; Kracht, M.; Falk, W.; Resch, K.; Martin, M. U.: The interleukin-1 receptor accessory protein (IL-1RAcP) is essential for IL-1-induced activation of interleukin-1 receptor-associated kinase (IRAK) and stress-activated protein kinases (SAP kinases). J. Biol. Chem. 272: 7727-7731, 1997.
[0026201]16789.Saha, P.; Chen, J.; Thome, K. C.; Lawlis, S. J.; Hou, Z.-H.; Hendricks, M.; Parvin, J. D.; Dutta, A.: Human CDC6/Cdc18 associates with Orc1 and cyclin-cdk and is selectively eliminated from the nucleus at the onset of S phase. Molec. Cell. Biol. 18: 2758-2767, 1998.
[0026202]16790.Williams, R. S.; Shohet, R. V.; Stillman, B.: A human protein related to yeast Cdc6p. Proc. Nat. Acad. Sci. 94: 142-147, 1997.
[0026203]16791.Yan, Z.; DeGregori, J.; Shohet, R.; Leone, G.; Stillman, B.; Nevins, J. R.; Williams, R. S.: Cdc6 is regulated by E2F and is essential for DNA replication in mammalian cells. Proc. Nat. Acad. Sci. 95: 3603-3608, 1998.
[0026204]16792.Brais, B.; Bouchard, J.-P.; Xie, Y.-G.; Rochefort, D. L.; Chretien, N.; Tome, F. M. S.; Lafreniere, R. G.; Rommens, J. M.; Uyama, E.; Nohira, O.; Blumen, S.; Korczyn, A. D.; Heutink, P.; Mathieu, J.; Duranceau, A.; Codere, F.; Fardeau, M.; Rouleau, G. A.: Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nature Genet. 18: 164-167, 1998. Note: Erratum: Nature Genet. 19: 404 only, 1998.
[0026205]16793.Calado, A.; Tome, F. M. S.; Brais, B.; Rouleau, G. A.; Kuhn, U.; Wahle, E.; Carmo-Fonseca, M.: Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA. Hum. Molec. Genet. 9: 2321-2328, 2000.
[0026206]16794.Fan, X.; Dion, P.; Laganiere, J.; Brais, B.; Rouleau, G. A.: Oligomerization of polyalanine expanded PABPN1 facilitates nuclear protein aggregation that is associated with cell death. Hum. Molec. Genet. 10: 2341-2351, 2001.
[0026207]16795.Ikeda, S.; Shiva, N.; Ikeda, A.; Smith, R. S.; Nusinowitz, S.; Yan, G.; Lin, T. R.; Chu, S.; Heckenlively, J. R.; North, M. A.; Naggert, J. K.; Nishina, P. M.; Duyao, M. P.: Retinal degeneration but not obesity is observed in null mutants of the tubby-like protein 1 gene. Hum. Molec. Genet. 9: 155-163, 2000.
[0026208]16796.North, M. A.; Naggert, J. K.; Yan, Y.; Noben-Trauth, K.; Nishina, P. M.: Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases. Proc. Nat. Acad. Sci. 94: 3128-3133, 1997.
[0026209]16797.Paloma, E.; Hjelmqvist, L.; Bayes, M.; Garcia-Sandoval, B.; Ayuso, C.; Balcells, S.; Gonzalez-Duarte, R.: Novel mutations in the TULP1 gene causing autosomal recessive retinitis pigmentosa. Invest. Ophthal. Vis. Sci. 41: 656-659, 2000.
[0026210]16798.Aoki, N.; Ishii, T.; Ohira, S.; Yamaguchi, Y.; Negi, M.; Adachi, T.; Nakamura, R.; Matsuda, T.: Stage specific expression of milk fat globule membrane glycoproteins in mouse mammary gland: comparison of MFG-E8, butyrophilin, and CD36 with a major milk protein, beta-casein. Biochim. Biophys. Acta 1334: 182-190, 1997.
[0026211]16799.Collins, C.; Nehlin, J. O.; Stubbs, J. D.; Kowbel, D.; Kuo, W.-L.; Parry, G.: Mapping of a newly discovered human gene homologous to the apoptosis associated-murine mammary protein, MFG-E8, to chromosome 15q25. Genomics 39: 117-118, 1997.
[0026212]16800.Haggqvist, B.; Naslund, J.; Sletten, K.; Westermark, G. T.; Mucchiano, G.; Tjernberg, L. O.; Nordstedt, C.; Engstrom, U.; Westermark, P. : Medin: an integral fragment of aortic smooth muscle cell-produced lactadherin forms the most common human amyloid. Proc. Nat. Acad. Sci. 96: 8669-8674, 1999.
[0026213]16801.Hanayama, R.; Tanaka, M.; Miwa, K.; Shinohara, A.; Iwamatsu, A.; Nagata, S.: Identification of a factor that links apoptotic cells to phagocytes. Nature 417: 182-187, 2002.
[0026214]16802.Larocca, D.; Peterson, J. A.; Urrea, R.; Kuniyoshi, J.; Bistrain, A. M.; Ceriani, R. L.: A M(r) 46,000 human milk fat globule protein that is highly expressed in human breast tumors contains factor VIII-like domains. Cancer Res. 51: 4994-4998, 1991.
[0026215]16803.Stubbs, J. D.; Lekutis, C.; Singer, K. L.; Bui, A.; Yuzuki, D.; Srinivasan, U.; Parry, G.: cDNA cloning of a mouse mammary epithelial cell surface protein reveals the existence of epidermal growth factor-like domains linked to factor VIII-like sequences. Proc. Nat. Acad. Sci. 87: 8417-8421, 1990.
[0026216]16804.Zhang, J.; Kuehl, P.; Green, E. D.; Touchman, J. W.; Watkins, P. B.; Daly, A.; Hall, S. D.; Maurel, P.; Relling, M.; Brimer, C.; Yasuda, K.; Wrighton, S. A.; Hancock, M.; Kim, R. B.; Strom, S.; Thummel, K.; Russell, C. G.; Hudson, J. R., Jr.; Schuetz, E. G.; Boguski, M. S.: The human pregnane X receptor: genomic structure and identification and functional characterization of natural allelic variants. Pharmacogenetics 11: 555-572, 2001.
[0026217]16805.Berrueta, L.; Kraeft, S.-K.; Tirnauer, J. S.; Schuyler, S. C.; Chen, L. B.; Hill, D. E.; Pellman, D.; Bierer, B. E.: The adenomatous polyposis coli-binding protein EB1 is associated with cytoplasmic and spindle microtubules. Proc. Nat. Acad. Sci. 95: 10596-10601, 1998.
[0026218]16806.Berrueta, L.; Tirnauer, J. S.; Schuyler, S. C.; Pellman, D.; Bierer, B. E.: The APCassociated protein EB1 associates with components of the dynactin complex and cytoplasmic dynein intermediate chain. Curr. Biol. 9: 425-428, 1999.
[0026219]16807.Su, L.-K.; Burrell, M.; Hill, D. E.; Gyuris, J.; Brent, R.; Wiltshire, R.; Trent, J.; Vogelstein, B.; Kinzler, K. W.: APC binds to the novel protein EB1. Cancer Res. 55: 2972-2977, 1995.
[0026220]16808.Su, L.-K.; Qi, Y.: Characterization of human MAPRE genes and their proteins. Genomics 71: 143-149, 2001.
[0026221]16809.Tirnauer, J. S.; Bierer, B. E.: EB1 proteins regulate microtubule dynamics, cell polarity, and chromosome stability. J. Cell Biol. 149: 761-766, 2000.
[0026222]16810.Arai, T.; Akiyama, Y.; Okabe, S.; Ando, M.; Endo, M.; Yuasa, Y. : Genomic structure of the human Smad3 gene and its infrequent alterations in colorectal cancers. Cancer Lett. 122: 157-163, 1998.
[0026223]16811.Zhang, Y.; Feng, X.-H.; Wu, R.-Y.; Derynck, R.: Receptor-associated Mad homologues synergize as effectors of the TGF-beta response. Nature 383: 168-172, 1996.
[0026224]16812.Zhu, Y.; Richardson, J. A.; Parada, L. F.; Graff, J. M.: Smad3 mutant mice develop metastatic colorectal cancer. Cell 94: 703-714, 1998.
[0026225]16813.Wicki, R.; Marenholz, I.; Mischke, D.; Schafer, B. W.; Heizmann, C. W.: Characterization of the human S100A12 (calgranulin C, p6, CAAF1, CGRP) gene, a new member of the S100 gene cluster on chromosome 1q21. Cell Calcium 20: 459-464, 1996.
[0026226]16814.Tan, K. B.; Harrop, J.; Reddy, M.; Young, P.; Terrett, J.; Emery, J.; Moore, G.; Truneh, A.: Characterization of a novel TNF-like ligand and recently described TNF ligand and TNF receptor superfamily genes and their constitutive and inducible expression in hematopoietic and nonhematopoietic cells. Gene 204: 35-46, 1997.
[0026227]16815.Gruter, P.; Tabernero, C.; von Kobbe, C.; Schmitt, C.; Saavedra, C.; Bachi, A.; Wilm, M.; Felber, B. K.; Izaurralde, E.: TAP, the human homolog of Mex67p, mediates CTE-dependent RNA export from the nucleus. Molec. Cell 1: 649-659, 1998.
[0026228]16816.Segref, A.; Sharma, K.; Doye, V.; Hellwig, A.; Huber, J.; Luhrmann, R.; Hurt, E.: Mex67p, a novel factor for nuclear mRNA export, binds to both poly(A)+ RNA and nuclear pores. EMBO J. 16: 3256-3271, 1997.
[0026229]16817.Yoon, D.-W.; Lee, H.; Seol, W.; DeMaria, M.; Rosenzweig, M.; Jung, J. U.: Tap: a novel cellular protein that interacts with Tip of herpesvirus saimiri and induces lymphocyte aggregation. Immunity 6: 571-582, 1997.
[0026230]16818.Bonini, J. A.; Martin, S. K.; Dralyuk, F.; Roe, M. W.; Philipson, L. H.; Steiner, D. F.: Cloning, expression, and chromosomal mapping of a novel human CC-chemokine receptor (CCR10) that displays high-affinity binding for MCP-1 and MCP-3. DNA Cell Biol. 16: 1249-1256, 1997.
[0026231]16819.Nibbs, R. J. B.; Wylie, S. M.; Yang, J.; Landau, N. R.; Graham, G. J.: Cloning and characterization of a novel promiscuous human beta-chemokine receptor D6. J. Biol. Chem. 272: 32078-32083, 1997.
[0026232]16820.Karet, F. E.; Finberg, K. E.; Nayir, A.; Bakkaloglu, A.; Ozen, S.; Hulton, S. A.; Sanjad, S. A.; Al-Sabban, E. A.; Medina, J. F.; Lifton, R. P.: Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34. Am. J. Hum. Genet. 65: 1656-1665, 1999.
[0026233]16821.Smith, A. N.; Skaug, J.; Choate, K. A.; Nayir, A.; Bakkaloglu, A.; Ozen, S.; Hulton, S. A.; Sanjad, S. A.; Al-Sabban, E. A.; Lifton, R. P.; Scherer, S. W.; Karet, F. E.: Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. Nature Genet. 26: 71-75, 2000.
[0026234]16822.McKie, J. M.; Sutherland, H. F.; Harvey, E.; Kim, U.-J.; Scambler, P. J.: A human gene similar to Drosophila melanogaster peanut maps to the DiGeorge syndrome region of 22q11. Hum. Genet. 101: 6-12, 1997.
[0026235]16823.Yagi, M.; Zieger, B.; Roth, G. J.; Ware, J.: Structure and expression of the human septin gene HCDCREL-1. Gene 212: 229-236, 1998.
[0026236]16824.Zieger, B.; Tran, H.; Hainmann, I.; Wunderle, D.; Zgaga-Griesz, A.; Blaser, S.; Ware, J.: Characterization and expression analysis of two human septin genes, PNUTL1 and PNUTL2. Gene 261: 197-203, 2000.
[0026237]16825.Latif, F.; Duh, F.-M.; Bader, S.; Sekido, Y.; Li, H.; Geil, L.; Zbar, B.; Minna, J. D.; Lerman, M. I.: The human homolog of the rodent immediate early response genes, PC4 and TIS7, resides in the lung cancer tumor suppressor gene region on chromosome 3p21. Hum. Genet. 99: 334-341, 1997.
[0026238]16826.Brandt, S.; Jentsch, T. J.: ClC-6 and ClC-7 are two novel broadly expressed members of the CLC chloride channel family. FEBS Lett. 377: 15-20, 1995.
[0026239]16827.Eggermont, J.; Buyse, G.; Voets, T.; Tytgat, J.; De Smedt, H.; Droogmans, G.: Alternative splicing of ClC-6 (a member of the ClC chloride-channel family) transcripts generates three truncated isoforms one of which, ClC-6c, is kidney-specific. Biochem. J. 325: 269-276, 1997.
[0026240]16828.Cleiren, E.; Benichou, O.; Van Hul, E.; Gram, J.; Bollerslav, J.; Singer, F. R.; Beaverson, K.; Aledo, A.; Whyte, M. P.; Yoneyama, T.; deVernejou, M.-C.; Van Hul, W.: Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene. Hum. Molec. Genet. 10: 2861-2867, 2001.
[0026241]16829.Hedblom, E.; Kirkness, E. F.: A novel class of GABA-A receptor subunit in tissues of the reproductive system. J. Biol. Chem. 272: 15346-15350, 1997.
[0026242]16830.Caloca, M. J.; Garcia-Bermejo, M. L.; Blumberg, P. M.; Lewin, N. E.; Kremmer, E.; Mischak, H.; Wang, S.; Nacro, K.; Bienfait, B.; Marquez, V. E.; Kazanietz, M. G.: Beta-2-chimaerin is a novel target for diacylglycerol: binding properties and changes in subcellular localization mediated by ligand binding to its C1 domain. Proc. Nat. Acad. Sci. 96: 11854-11859, 1999.
[0026243]16831.Leung, T.; How, B.-E.; Manser, E.; Lim, L.: Cerebellar beta-2-chimaerin, a GTPaseactivating protein for p21 Ras-related Rac is specifically expressed in granule cells and has a unique Nterminal SH2 domain J. Biol. Chem. 269: 12888-12892, 1994.
[0026244]16832.Leung, T.; How, B.-E.; Manser, E.; Lim, L.: Germ cell beta-chimaerin, a new GTPaseactivating protein for p21rac, is specifically expressed during the acrosomal assembly stage in rat testis. J. Biol. Chem. 268: 3813-3816, 1993.
[0026245]16833.Yuan, S.; Miller, D. W.; Barnett, G. H.; Hahn, J. F.; Williams, B. R.: Identification and characterization of human beta 2-chimaerin: association with malignant transformation in astrocytoma. Cancer Res. 55: 3456-3461, 1995.
[0026246]16834.Holland, P. C.; Dillon, M. J.; Pincott, J.; Simmonds, H. A.; Barratt, T. M.: Hypoxanthine guanine phosphoribosyl transferase deficiency presenting with gout and renal failure in infancy. Arch. Dis. Child. 58: 831-833, 1983.
[0026247]16835.Jolly, D. J.; Esty, A. C.; Bernard, H. U.; Friedmann, T.: Isolation of a genomic clone partially encoding human hypoxanthine phosphoribosyltransferase. Proc. Nat. Acad. Sci. 79: 5038-5041, 1982.
[0026248]16836.Jolly, D. J.; Okayama, H.; Berg, P.; Esty, A. C.; Filpula, D.; Bohlen, P.; Johnson, G. G.; Shively, J. E.; Hunkapiller, T.; Friedmann, T.: Isolation and characterization of a full-length expressible cDNA for human hypoxanthine phosphoribosyltransferase. Proc. Nat. Acad. Sci. 80: 477-481, 1983.
[0026249]16837.Chung, E.; Hanukoglu, A.; Rees, M.; Thompson, R.; Dillon, M.; Hanukoglu, I.; Bistritzer, T.; Kuhnle, U.; Seckl, J.; Gardiner, R. M.: Exclusion of the locus for autosomal recessive pseudohypoaldosteronism type 1 from the mineralocorticoid receptor gene region on human chromosome 4q by linkage analysis. J. Clin. Endocr. Metab. 80: 3341-3345, 1995.
[0026250]16838.Schwienbacher, C.; Sabbioni, S.; Campi, M.; Veronese, A.; Bernardi, G.; Menegatti, A.; Hatada, I.; Mukai, T.; Ohashi, H.; Barbanti-Brodano, G.; Croce, C. M.; Negrini, M.: Transcriptional map of 170-kb region at chromosome 11p15.5: identification and mutational analysis of the BWR1A gene reveals the presence of mutations in tumor samples. Proc. Nat. Acad. Sci. 95: 3873-3878, 1998.
[0026251]16839.Bartsch, O.; Kress, W.; Wagner, A.; Seemanova, E.: The novel contiguous gene syndrome of myotubular myopathy (MTM1), male hypogenitalism and deletion in Xq28: report of the first familial case. Cytogenet. Cell Genet. 85: 310-314, 1999.
[0026252]16840.Nagase, T.; Ishikawa, K.; Suyama, M.; Kikuno, R.; Hirosawa, M.; Miyajima, N.; Tanaka, A.; Kotani, H.; Nomura, N.; Ohara, O.: Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. DNA Res. 6: 63-70, 1999.
[0026253]16841.Philibert, R. A.; Winfield, S. L.; Sandhu, H. K.; Martin, B. M.; Ginns, E. I.: The structure and expression of the human neuroligin-3 gene. Gene 246: 303-310, 2000.
[0026254]16842.Zonana, J.; Clarke, A.; Sarfarazi, M.; Thomas, N. S. T.; Roberts, K.; Marymee, K.; Harper, P. S.: X-linked hypohidrotic ectodermal dysplasia: localization within the region Xq11-21.1 by linkage analysis and implications for carrier detection and prenatal diagnosis. Am. J. Hum. Genet. 43: 75-85, 1988.
[0026255]16843.Arico, M.; Imashuku, S.; Clementi, R.; Hibi, S.; Teramura, T.; Danesino, C.; Haber, D. A.; Nichols, K. E.: Hemophagocytic lymphohistiocytosis due to germline mutations in SH2D1A, the Xlinked lymphoproliferative disease gene. Blood 97: 1131-1133, 2001.
[0026256]16844.Arkwright, P. D.; Makin, G.; Will, A. M.; Ayres, M.; Gokhale, D. A.; Fergusson, W. D.; Taylor, G. M.: X linked lymphoproliferative disease in a United Kingdom family. Arch. Dis. Child. 79: 52-55, 1998.
[0026257]16845.Bar, R. S.; DeLor, C. J.; Clausen, K. P.; Hurtubise, P.; Henle, W.; Hewetson, J. F.: Fatal infectious mononucleosis in a family. New Eng. J. Med. 290: 363-367, 1974.
[0026258]16846.Benoit, L.; Wang, X.; Pabst, H. F.; Dutz, J.; Tan, R.: Cutting edge: defective NK cell activation in X-linked lymphoproliferative disease. J. Immun. 165: 3549-3553, 2000.
[0026259]16847.Brandau, O.; Schuster, V.; Weiss, M.; Hellebrand, H.; Fink, F. M.; Kreczy, A.; Friedrich, W.; Strahm, B.; Niemeyer, C.; Belohradsky, B. H.; Meindl, A.: Epstein-Barr virus-negative boys with non-Hodgkin lymphoma are mutated in the SH2D1A gene, as are patients with X-linked lymphoproliferative disease (XLP). Hum. Molec. Genet. 8: 2407-2413, 1999.
[0026260]16848.Coffey, A. J.; Brooksbank, R. A.; Brandau, O.; Oohashi, T.; Howell, G. R.; Bye, J. M.; Cahn, A. P.; Durham, J.; Heath, P.; Wray, P.; Pavitt, R.; Wilkinson, J.; and 31 others: Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. Nature Genet. 20: 129-135, 1998.
[0026261]16849.Czar, M. J.; Kersh, E. N.; Mijares, L. A.; Lanier, G.; Lewis, J.; Yap, G.; Chen, A.; Sher, A.; Duckett, C. S.; Ahmed, R.; Schwartzberg, P. L.: Altered lymphocyte responses and cytokine production in mice deficient in the X-linked lymphoproliferative disease gene SH2D1A/DSHP/SAP. Proc. Nat. Acad. Sci. 98: 7449-7454, 2001.
[0026262]16850.Dutz, J. P.; Benoit, L.; Wang, X.; Demetrick, D. J.; Junker, A.; de Sa, D.; Tan, R.: Lymphocytic vasculitis in X-linked lymphoproliferative disease. Blood 97: 95-100, 2001.
[0026263]16851.Grierson, H. L.; Skare, J.; Church, J.; Silberman, T.; Davis, J. R.; Kobrinsky, N.; McGregor, R.; Israels, S.; McCarty, J.; Andrews, L. G.; Blecha, T.; Erdman, S.; Obringer, A.; Scharnhorst, D.; Purtilo, D. T.: Evaluation of families wherein a single male manifests a phenotype of Xlinked lymphoproliferative disease (XLP). Am. J. Med. Genet. 47: 458-463, 1993.
[0026264]16852.Hambleton, G.; Cottom, D. G.: Familial lymphoma. Proc. Roy. Soc. Med. 62: 1095 only, 1969.
[0026265]16853.Hamilton, J. K.; Paquin, L. A.; Sullivan, J. L.; Maurer, H. S.; Cruzi, F. G.; Provisor, A. J.; Steuber, C. P.; Hawkins, E.; Yawn, D.; Cornet, J.; Clausen, K.; Finkelstein, G. Z.; Landing, B.; Grunnet, M.; Purtilo, D. T.: X-linked lymphoproliferative syndrome registry report. J. Pediat. 96: 669-673, 1980.
[0026266]16854.Harris, A.; Docherty, Z.: X-linked lymphoproliferative disease: a karyotype analysis. Cytogenet. Cell Genet. 47: 92-94, 1988.
[0026267]16855.Harris, A.; Lenoir, G. M.; Lankester, S. A.: X-linked lymphoproliferative disease: linkage studies using DNA probes. Clin. Genet. 33: 162-168, 1988.
[0026268]16856.Hayoz, D.; Lenoir, G. M.; Nicole, A.; Pugin, P.; Regamey, C.: X-linked lymphoproliferative syndrome: identification of a large family in Switzerland. Am. J. Med. 84: 529-534, 1988.
[0026269]16857.Klein, G.; Klein, E.: Sinking surveillance's flagship. Nature 395: 441-445, 1998.
[0026270]16858.Levine, P. H.; Kamaraju, L. S.; Connelly, R. R.; Berard, C. W.; Dorfman, R. F.; Magrath, I.; Easton, J. M.: The American Burkitt's Lymphoma Registry: eight years' experience. Cancer 49: 1016-1022, 1982.
[0026271]16859.Loeffel, S.; Chang, C.-H.; Heyn, R.; Harada, S.; Lipscomb, H.; Sinangil, F.; Volsky, D. J.; McClain, K.; Ochs, H.; Purtilo, D. T. : Necrotizing lymphoid vasculitis in X-linked lymphoproliferative syndrome. Arch. Path. Lab. Med. 109: 546-550, 1985.
[0026272]16860.Lyon, M. F.; Loutit, J. F.: X-linked factor in acquired immunodeficiency syndrome?. (Letter) Lancet I: 768 only, 1983.
[0026273]16861.Mulley, J. C.; Turner, A. M.; Gedeon, A. K.; Berdoukas, V. A.; Huang, T. H. M.; Ledbetter, D. H.; Grierson, H.; Purtilo, D. T.: X-linked lymphoproliferative disease: prenatal detection of an unaffected histocompatible male. Clin. Genet. 42: 76-79, 1992.
[0026274]16862.Eva, A.; Aaronson, S. A.: Isolation of a new human oncogene from a diffuse B-cell lymphoma. Nature 316: 273-275, 1985.
[0026275]16863.Anderson, S. R.; Warburg, M.: Norrie's disease. Arch. Ophthal. 66: 614-618, 1961.
[0026276]16864.Bergen, A. A. B.; Wapenaar, M. C.; Schuurman, E. J. M.; Diergaarde, P. J.; Lerach, H.; Monaco, A. P.; Bakker, E.; Bleeker-Wagemakers, E. M.; van Ommen, G. J. B.: Detection of a new submicroscopic Norrie disease deletion interval with a novel DNA probe isolated by differential Alu PCR fingerprint cloning. Cytogenet. Cell Genet. 62: 231-235, 1993.
[0026277]16865.Berger, W.; Meindl, A.; van de Pol, T. J. R.; Cremers, F. P. M.; Ropers, H. H.; Doerner, C.; Monaco, A.; Bergen, A. A. B.; Lebo, R.; Warburg, M.; Zergollern, L.; Lorenz, B.; Gal, A.; Bleeker-Wagemakers, E. M.; Meitinger, T.: Isolation of a candidate gene for Norrie disease by positional cloning. Nature Genet. 1: 199-203, 1992.
[0026278]16866.Berger, W.; van de Pol, D.; Bachner, D.; Oerlemans, F.; Winkens, H.; Hameister, H.; Wieringa, B.; Hendriks, W.; Ropers, H.-H.: An animal model for Norrie disease (ND): gene targeting of the mouse ND gene. Hum. Molec. Genet. 5: 51-59, 1996.
[0026279]16867.Eva, A.; Vecchio, G.; Rao, C. D.; Tronick, S. R.; Aaronson, S. A.: The predicted DBL oncogene product defines a distinct class of transforming proteins. Proc. Nat. Acad. Sci. 85: 2061-2065, 1988.
[0026280]16868.Galland, F.; Stefanova, M.; Lafage, M.; Birnbaum, D.: Localization of the 5-prime end of the MCF2 oncogene to human chromosome 15q15-q23. Cytogenet. Cell Genet. 60: 114-116, 1992.
[0026281]16869.Grant, S. G.; Mattei, M.-G.; Galland, F.; Stephenson, D. A.; Keitz, B. T.; Birnbaum, D.; Chapman, V. M.: Localization of the mouse Mcf-2 (Dbl) protooncogene within a conserved linkage group on the mouse X chromosome. Cytogenet. Cell Genet. 54: 175-181, 1990.
[0026282]16870.Nguyen, C.; Pontarotti, P.; Birnbaum, D.; Chimini, G.; Rey, J. A.; Mattei, J.-F.; Jordan, B. R.: Large scale physical mapping in the q27 region of the human X chromosome: the coagulation factor IX gene and the mcf.2 transforming sequence are separated by at most 270 kilobase pairs and are surrounded by several 'HTF islands.' EMBO J. 6: 3285-3289, 1987.
[0026283]16871.Nguyen, C.; Poustka, A.-M.; Djabali, M.; Roux, D.; Mattei, J.-F.; Lehrach, H.; Jordan, B. R.: Large-scale mapping and chromosome jumping in the q27 region of the human X chromosome. Genomics 5: 298-303, 1989.
[0026284]16872.Noguchi, T.; Mattei, M.-G.; Oberle, I.; Planche, J.; Imbert, J.; Pelassy, C.; Birg, F.; Birnbaum, D.: Localization of the mcf.2 transforming sequence to the X chromosome. EMBO J. 6: 1301-1307, 1987.
[0026285]16873.Ron, D.; Tronick, S. R.; Aaronson, S. A.; Eva, A.: Molecular cloning and characterization of the human DBL proto-oncogene: evidence that its overexpression is sufficient to transform NIH/3T3 cells. EMBO J. 7: 2465-2473, 1988.
[0026286]16874.Srivastava, S. K.; Wheelock, R. H. P.; Aaronson, S. A.; Eva, A. : Identification of the protein encoded by the human diffuse B-cell lymphoma (dbl) oncogene. Proc. Nat. Acad. Sci. 83: 8868-8872, 1986.
[0026287]16875.Tronick, S. R.; McBride, O. W.; Popescu, N. C.; Eva, A.: Chromosomal localization of DBL oncogene sequences. Genomics 5: 546-553, 1989.
[0026288]16876.Giovane, A.; Sobieszczuk, P.; Mignon, C.; Mattei, M.-G.; Wasylyk, B.: Locations of the ets subfamily members net, elk1, and sap1 (ELK3, ELK1, and ELK4) on three homologous regions of the mouse and human genomes. Genomics 29: 769-772, 1995.
[0026289]16877.Acland, G. M.; Blanton, S. H.; Hershfield, B.; Aguirre, G. D.: XLPRA: a canine retinal degeneration inherited as an X-linked trait. Am. J. Med. Genet. 52: 27-33, 1994.
[0026290]16878.Aldred, M. A.; Teague, P. W.; Jay, M.; Bundey, S.; Redmond, R. M.; Jay, B.; Bird, A. C.; Bhattacharya, S. S.; Wright, A. F.: Retinitis pigmentosa families showing apparent X linked inheritance but unlinked to the RP2 or RP3 loci. J. Med. Genet. 31: 848-852, 1994.
[0026291]16879.Allan, W.: Eugenic significance of retinitis pigmentosa. Arch. Ophthal. 18: 938-947, 1937.
[0026292]16880.Bhattacharya, S. S.; Clayton, J. F.; Harper, P. S.; Hoare, G. W.; Jay, M. R.; Lyness, A. L.; Wright, A. F.: A genetic linkage study of a kindred with X-linked retinitis pigmentosa. Brit. J. Ophthal. 69: 340-347, 1985.
[0026293]16881.Bhattacharya, S. S.; Wright, A. F.; Clayton, J. F.; Price, W. H.; Phillips, C. I.; McKeown, C. M. E.; Jay, M.; Bird, A. C.; Pearson, P. L.; Southern, E. M.; Evans, H. J.: Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28. Nature 309: 253-255, 1984.
[0026294]16882.Bird, A. C.: X-linked retinitis pigmentosa. Brit. J. Ophthal. 59: 177-199, 1975.
[0026295]16883.Bundey, S.; Crews, S. J.: A study of retinitis pigmentosa in the City of Birmingham. (Letter) J. Med. Genet. 23: 188-191, 1986.
[0026296]16884.Chapple, J. P.; Hardcastle, A. J.; Grayson, C.; Spackman, L. A.; Willison, K. R.; Cheetham, M. E.: Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane. Hum. Molec. Genet. 9: 1919-1926, 2000.
[0026297]16885.Chen, J.-D.; Halliday, F.; Keith, G.; Sheffield, L.; Dickinson, P.; Gray, R.; Constable, I.; Denton, M.: Linkage heterogeneity between X-linked retinitis pigmentosa and a map of 10 RFLP loci. Am. J. Hum. Genet. 45: 401-411, 1989.
[0026298]16886.Chen, J. D.; Denton, M. J.; Donald, J.; Serravalle, S.; Colley, P.; Lam Po Tang, P. R. L.; Halliday, F. B.: Analysis of linkage relationships of X-linked retinitis pigmentosa with the following Xp loci: DXS7, OTC, DXS84, XJ-1, DXS164, and DXS28. (Abstract) Cytogenet. Cell Genet. 46: 592 only, 1987.
[0026299]16887.Chen, J. D.; Halliday, F.; Keith, G.; Sheffield, L.; Fraser, N.; Dickinson, P.; Gray, R.; Constable, I.; Denton, M. J.: Two loci for X-linked retinitis pigmentosa suggested by multipoint linkage analysis in nine families. (Abstract) Cytogenet. Cell Genet. 51: 976 only, 1989.
[0026300]16888.Clayton, J. F.; Wright, A. F.; Jay, M.; McKeown, C. M. E.; Dempster, M.; Jay, B. S.; Bird, A. C.; Bhattacharya, S. S.: Genetic linkage between X-linked retinitis pigmentosa and DNA probe DXS7 [L1.28]: further linkage data, heterogeneity testing, and risk estimation. Hum. Genet. 74: 168-171, 1986.
[0026301]16889.Coleman, M.; Bhattacharya, S.; Lindsay, S.; Wright, A.; Jay, M.; Litt, M.; Craig, I.; Davies, K.: Localization of the microsatellite probe DXS426 between DXS7 and DXS255 on Xp and linkage to X-linked retinitis pigmentosa. Am. J. Hum. Genet. 47: 935-940, 1990.
[0026302]16890.Ernst, W.; Clover, G.; Faulkner, D. J.: X-linked retinitis pigmentosa: reduced rod flicker sensitivity in heterozygous females. Invest. Ophthal. Vis. Sci. 6: 812-816, 1981.
[0026303]16891.Farrar, G. J.; Geraghty, M. T.; Moloney, J. M. B.; McConnell, D. J.; Humphries, P.: Linkage analysis of X linked retinitis pigmentosa in the Irish population. J. Med. Genet. 25: 222-226, 1988.
[0026304]16892.Fishman, G. A.; Farber, M. D.; Derlacki, D. J.: X-linked retinitis pigmentosa: profile of clinical findings. Arch. Ophthal. 106: 369-375, 1988.
[0026305]16893.Friedrich, U.; Warburg, M.; Jorgensen, A. L.: X-inactivation pattern in carriers of Xlinked retinitis pigmentosa: a valuable means of prognostic evaluation?. Hum. Genet. 92: 359-363, 1993.
[0026306]16894.Friedrich, U.; Warburg, M.; Kruse, T. A.; Andreasson, S.: X-linked retinitis pigmentosa: new map studies of XLRP2, and a possible human centromere effect. Hum. Genet. 88: 683-687, 1992.
[0026307]16895.Friedrich, U.; Warburg, M.; Wieacker, P.; Wienker, T. F.; Gal, A.; Ropers, H.-H.: Xlinked retinitis pigmentosa: linkage with the centromere and a cloned DNA sequence from the proximal short arm of the X chromosome. Hum. Genet. 71: 93-99, 1985.
[0026308]16896.Gieser, D. K.; Fishman, G. A.; Cunha-Vaz, J.: X-linked recessive retinitis pigmentosa and vitreous fluorophotometry: a study of female heterozygotes. Arch. Ophthal. 98: 307-310, 1980.
[0026309]16897.Grutzner, P.; Sanger, R.; Spivey, B. E.: Linkage studies in X-linked retinitis pigmentosa. Humangenetik 14: 155-158, 1972.
[0026310]16898.Heck, A. F.: Presumptive X-linked intermediate transmission of retinal degenerations: variations and coincidental occurrence with ataxia in a large family. Arch. Ophthal. 70: 143-149, 1963.
[0026311]16899.Hoare, G. W.: Choroido-retinal dystrophy. Brit. J. Ophthal. 49: 449-459, 1965.
[0026312]16900.Bermingham, J. R., Jr.; Scherer, S. S.; O'Connell, S.; Arroyo, E.; Kalla, K. A.; Powell, F. L.; Rosenfeld, M. G.: Tst-1/Oct-6/SCIP regulates a unique step in peripheral myelination and is required for normal respiration. Genes Dev. 10: 1751-1762, 1996.
[0026313]16901.Jaegle, M.; Mandemakers, W.; Broos, L.; Zwart, R.; Karis, A.; Visser, P.; Grosveld, F.; Meijer, D.: The POU factor Oct-6 and Schwann cell differentiation. Science 273: 507-510, 1996.
[0026314]16902.Sumiyama, K.; Washio-Watanabe, K.; Ono, T.; Yoshida, M. C.; Hayakawa, T.; Ueda, S.: Human class III POU genes, POU3F1 and POU3F3, map to chromosomes 1p34.1 and 3p14.1. Mammalian Genome 9: 180-181, 1998.
[0026315]16903.Costache, M.; Apoil, P.-A.; Cailleau, A.; Elmgren, A.; Larson, G.; Henry, S.; Blancher, A.; Iordachescu, D.; Oriol, R.; Mollicone, R.: Evolution of fucosyltransferase genes in vertebrates. J. Biol. Chem. 272: 29721-29728, 1997.
[0026316]16904.Yanagidani, S.; Uozumi, N.; Ihara, Y.; Miyoshi, E.; Yamaguchi, N.; Taniguchi, N.: Purification and cDNA cloning of GDP-L-Fuc:N-acetyl-beta-D-glucosaminide:alpha-1-6 fucosyltransferase (alpha-1-6 FucT) from human gastric cancer MKN45 cells. J. Biochem. 121: 626-632, 1997.
[0026317]16905.Bekri, S.; Adelaide, J.; Merscher, S.; Grosgeorge, J.; Caroli-Bosc, F.; Perucca-Lostanlen, D.; Kelley, P. M.; Pebusque, M.-J.; Theillet, C.; Birnbaum, D.; Gaudray, P.: Detailed map of a region commonly amplified at 11q13-q14 in human breast carcinoma. Cytogenet. Cell Genet. 79: 125-131, 1997.
[0026318]16906.Goodwin, R. G.; Alderson, M. R.; Smith, C. A.; Armitage, R. J.; VandenBos, T.; Jerzy, R.; Tough, T. W.; Schoenborn, M. A.; Davis-Smith, T.; Hennen, K.; Falk, B.; Cosman, D.; Baker, E.; Sutherland, G. R.; Grabstein, K. H.; Farrah, T.; Giri, J. G.; Beckmann, M. P.: Molecular and biological characterization of a ligand for CD27 defines a new family of cytokines with homology to tumor necrosis factor. Cell 73: 447-456, 1993.
[0026319]16907.Kawabata, M.; Saeki, K.: Multiple alternative transcripts of the human homologue of the mouse TRAD/R51H3/RAD51D gene, a member of the rec A/RAD51 gene family. Biochem. Biophys. Res. Commun. 257: 156-162, 1999.
[0026320]16908.Pittman, D. L.; Weinberg, L. R.; Schimenti, J. C.: Identification, characterization, and genetic mapping of Rad51d, a new mouse and human RAD51/RecA-related gene. Genomics 49: 103-111, 1998.
[0026321]16909.Bell, B.; Scheer, E.; Tora, L.: Identification of hTAFII80-delta links apoptotic signaling pathways to transcription factor TFIID function. Molec. Cell 8: 591-600, 2001.
[0026322]16910.Hisatake, K.; Ohta, T.; Takada, R.; Guermah, M.; Horikoshi, M.; Nakatani, Y.; Roeder, R. G.: Evolutionary conservation of human TATA-binding-polypeptide-associated factors TAFII31 and TAFII80 and interactions of TAFII80 with other TAFs and with general transcription factors. Proc. Nat. Acad. Sci. 92: 8195-8199, 1995.
[0026323]16911.Weinzierl, R. O. J.; Ruppert, S.; Dynlacht, B. D.; Tanese, N.; Tjian, R.: Cloning and expression of Drosophila TAFII60 and human TAFII70 reveal conserved interactions with other subunits of TFIID. EMBO J. 12: 5303-5309, 1993.
[0026324]16912.de Winter, J. P.; Waisfisz, Q.; Rooimans, M. A.; van Berkel, C. G. M.; Bosnoyan-Collins, L.; Alon, N.; Carreau, M.; Bender, O.; Demuth, I.; Schindler, D.; Pronk, J. C.; Arwert, F.; Hoehn, H.; Digweed, M.; Buchwald, M.; Joenje, H.: The Fanconi anaemia group G gene FANCG is identical with XRCC9. Nature Genet. 20: 281-283, 1998.
[0026325]16913.Demuth, I.; Wlodarski, M.; Tipping, A. J.; Morgan, N. V.; de Winter, J. P.; Thiel, M.; Grasl, S.; Schindler, D.; D'Andrea, A. D.; Altay, C.; Kayserili, H.; Zatterdale, A.; Kunze, J.; Ebell, W.; Mathew, C. G.; Joenje, H.; Sperling, K.; Digweed, M.: Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9. Europ. J. Hum. Genet. 8: 861-868, 2000.
[0026326]16914.Futaki, M.; Watanabe, S.; Kajigaya, S.; Liu, J. M.: Fanconi anemia protein, FANCG, is a phosphoprotein and is upregulated with FANCA after TNF-alpha treatment. Biochem. Biophys. Res. Commun. 281: 347-351, 2001.
[0026327]16915.Koomen, M.; Cheng, N. C.; van de Vrugt, H. J.; Godthelp, B. C.; van der Valk, M. A.; Oostra, A. B.; Zdzienicka, M. Z.; Joenje, H.; Arwert, F.: Reduced fertility and hypersensitivity to mitomycin C characterize Fancg/Xrcc9 null mice. Hum. Molec. Genet. 11: 273-281, 2002.
[0026328]16916.Kuang, Y.; Garcia-Higuera, I.; Moran, A.; Mondoux, M.; Digweed, M.; D'Andrea, A. D.: Carboxy terminal region of the Fanconi anemia protein, FANCG/XRCC9, is required for functional activity. Blood 96: 1625-1632, 2000.
[0026329]16917.Liu, N.; Lamerdin, J. E.; Tucker, J. D.; Zhou, Z.-Q.; Walter, C. A.; Albala, J. S.; Busch, D. B.; Thompson, L. H.: The human XRCC9 gene corrects chromosomal instability and mutagen sensitivities in CHO UV40 cells. Proc. Nat. Acad. Sci. 94: 9232-9237, 1997.
[0026330]16918.Saar, K.; Schindler, D.; Wegner, R. D.; Reis, A.; Wienker, T. F.; Hoehn, H.; Joenje, H.; Sperling, K.; Digweed, M.: Localisation of a Fanconi anaemia gene to chromosome 9p. Europ. J. Hum. Genet. 6: 501-508, 1998.
[0026331]16919.Yamada, T.; Tachibana, A.; Shimizu, T.; Mugishima, H.; Okubo, M.; Sasaki, M. S.: Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia. J. Hum. Genet. 45: 159-166, 2000.
[0026332]16920.Yang, Y.; Kuang, Y.; Montes De Oca, R.; Hays, T.; Moreau, L.; Lu, N.; Seed, B.; D'Andrea, A. D.: Targeted disruption of the murine Fanconi anemia gene, Fancg/Xrcc9. Blood 98: 3435-3440, 2001.
[0026333]16921.Tsai, K. J.; Chen, S. K.; Ma, Y. L.; Hsu, W. L.; Lee, E. H. Y. : sgk, a primary glucocorticoid-induced gene, facilitates memory consolidation of spatial learning in rats. Proc. Nat. Acad. Sci. 99: 3990-3995, 2002.
[0026334]16922.Waldegger, S.; Barth, P.; Raber, G.; Lang, F.: Cloning and characterization of a putative human serine/threonine protein kinase transcriptionally modified during anisotonic and isotonic alterations of cell volume. Proc. Nat. Acad. Sci. 94: 4440-4445, 1997.
[0026335]16923.Lynch, R. A.; Piper, M.; Bankier, A.; Bhugra, B.; Surti, U.; Liu, J.; Buckler, A.; Dear, P. H.; Menon, A. G.: Genomic and functional map of the chromosome 14 t(12;14) breakpoint cluster region in uterine leiomyoma. Genomics 52: 17-26, 1998.
[0026336]16924.Adam-Klages, S.; Adam, D.; Wiegmann, K.; Struve, S.; Kolanus, W.; Schneider-Mergener, J.; Kronke, M.: FAN, a novel WD-repeat protein, couples the p55 TNF-receptor to neutral sphingomyelinase. Cell 86: 937-947, 1996.
[0026337]16925.Zhang, Y.; Kreder, D.; Schwandner, R.; Krut, O.; Scherer, G.; Adam-Klages, S.; Siebert, R.; Kronke, M.; Schlegelberger, B.: Assignment of the human FAN protein gene (NSMAF) to human chromosome region 8q12-q13 by in situ hybridization. Cytogenet. Cell Genet. 87: 115-116, 1999.
[0026338]16926.Ide, H.; Katoh, M.; Sasaki, H.; Yoshida, T.; Aoki, K.; Nawa, Y.; Osada, Y.; Sugimura, T.; Terada, M.: Cloning of human bone morphogenetic protein type 1B receptor (BMPR-1B) and its expression in prostate cancer in comparison with other BMPRs. Oncogene 14: 1377-1382, 1997.
[0026339]16927.ten Dijke, P.; Yamashita, H.; Ichijo, H.; Franzen, P.; Laiho, M.; Miyazono, K.; Heldin, C.-H.: Characterization of type I receptors for transforming growth factor-beta and activin. Science 264: 101-104, 1994.
[0026340]16928.Mitsuhashi, N.; Miki, T.; Senbongi, H.; Yokoi, N.; Yano, H.; Miyazaki, M.; Nakajima, N.; Iwanaga, T.; Yokoyama, Y.; Shibata, T.; Seino, S. : MTABC3, a novel mitochondrial ATP-binding cassette protein involved in iron homeostasis. J. Biol. Chem. 275: 17536-17540, 2000.
[0026341]16929.Bai, C.; Connolly, B.; Metzker, M. L.; Hilliard, C. A.; Liu, X.; Sandig, V.; Soderman, A.; Galloway, S. M.; Liu, Q.; Austin, C. P.; Caskey, C. T.: Overexpression of M68/DCR3 in human gastrointestinal tract tumors independent of gene amplification and its location in a four-gene cluster. Proc. Nat. Acad. Sci. 97: 1230-1235, 2000.
[0026342]16930.Pitti, R. M.; Marsters, S. A.; Lawrence, D. A.; Roy, M.; Kischkel, F. C.; Dowd, P.; Huang, A.; Donahue, C. J.; Sherwood, S. W.; Baldwin, D. T.; Godowski, P. J.; Wood, W. I.; Gurney, A. L.; Hillan, K. J.; Cohen, R. L.; Goddard, A. D.; Botstein, D.; Ashkenazi, A.: Genomic amplification of a decoy receptor for Fas ligand in lung and colon cancer. Nature 396: 699-703, 1998.
[0026343]16931.Ringstad, N.; Nemoto, Y.; De Camilli, P.: The SH3p4/Sh3p8/SH3p13 protein family: binding partners for synaptojanin and dynamin via a Grb2-like Src homology 3 domain. Proc. Nat. Acad. Sci. 94: 8569-8574, 1997.
[0026344]16932.Sittler, A.; Walter, S.; Wedemeyer, N.; Hasenbank, R.; Scherzinger, E.; Eickhoff, H.; Bates, G. P.; Lehrach, H.; Wanker, E. E.: SH3GL3 associates with the huntington exon 1 protein and promotes the formation of polygln-containing protein aggregates. Molec. Cell 2: 427-436, 1998.
[0026345]16933.Sparks, A. B.; Hoffman, N. G.; McConnell, S. J.; Fowlkes, D. M.; Kay, B. K.: Cloning of ligand targets: systematic isolation of SH3 domain-containing proteins. Nature Biotech. 14: 741-744, 1996.
[0026346]16934.Fracchiolla, N. S.; Colombo, G.; Finelli, P.; Maiolo, A. T.; Neri, A.: EHT, a new member of the MTG8/ETO gene family, maps on 20q11 region and is deleted in acute myeloid leukemias. (Letter) Blood 92: 3481-3484, 1998.
[0026347]16935.Kitabayashi, I.; Ida, K.; Morohoshi, F.; Yokoyama, A.; Mitsuhashi, N.; Shimizu, K.; Nomura, N.; Hayashi, Y.; Ohki, M.: The AML1-MTG8 leukemic fusion protein forms a complex with a novel member of the MTG8(ETO/CDR) family, MTGR1. Molec. Cell. Biol. 18: 846-858, 1998.
[0026348]16936.Jensen, D. E.; Proctor, M.; Marquis, S. T.; Gardner, H. P.; Ha, S. I.; Chodosh, L. A.; Ishov, A. M.; Tommerup, N.; Vissing, H.; Sekido, Y.; Minna, J.; Borodovsky, A.; Schultz, D. C.; Wilkinson, K. D.; Maul, G. G.; Barlev, N.; Berger, S. L.; Prendergast, G. C.; Rauscher, F. J., III: BAP1: a novel ubiquitin hydrolase which binds to the BRCA1 RING finger and enhances BRCA1-mediated cell growth suppression. Oncogene 16: 1097-1112, 1998.
[0026349]16937.Nelson, H.; Mandiyan, S.; Noumi, T.; Moriyama, Y.; Miedel, M. C.; Nelson, N.: Molecular cloning of cDNA encoding the C subunit of H(+)-ATPase from bovine chromaffin granules. J. Biol. Chem. 265: 20390-20393, 1990.
[0026350]16938.van Hille, B.; Vanek, M.; Richener, H.; Green, J. R.; Bilbe, G. : Cloning and tissue distribution of subunits C, D, and E of the human vacuolar H(+)-ATPase. Biochem. Biophys. Res. Commun. 197: 15-21, 1993.
[0026351]16939.Yasuda, T.; Yamaguchi, N.; Kobayashi, K.; Nishi, I.; Horinouchi, H.; Jalil, M. A.; Li, M. X.; Ushikai, M.; Iijima, M.; Kondo, I.; Saheki, T.: Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia. Hum. Genet. 107: 537-545, 2000.
[0026352]16940.Kondoh, N.; Schweinfest, C. W.; Henderson, K. W.; Papas, T. S. : Differential expression of S19 ribosomal protein, laminin-binding protein, and human lymphocyte antigen class I messenger RNAs associated with colon carcinoma progression and differentiation. Cancer Res. 52: 791-796, 1992.
[0026353]16941.Matsson, H.; Klar, J.; Draptchinskaia, N.; Gustavsson, P.; Carlsson, B.; Bowers, D.; de Bont, E.; Dahl, N.: Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia. Hum. Genet. 105: 496-500, 1999.
[0026354]16942.Tentler, D.; Gustavsson, P.; Elinder, G.; Eklof, O.; Gordon, L.; Mandel, A.; Dahl, N.: A microdeletion in 19q13.2 associated with mental retardation, skeletal malformations, and Diamond-Blackfan anaemia suggests a novel contiguous gene syndrome. J. Med. Genet. 37: 128-131, 2000.
[0026355]16943.Hoornaert, I.; Marynen, P.; Baens, M.: CREBL2, a novel transcript from the chromosome 12 region flanked by ETV6 and CDKN1B. Genomics 51: 154-157, 1998.
[0026356]16944.Nishiu, J.; Tanaka, T.; Nakamura, Y.: Identification of a novel gene (ECM2) encoding a putative extracellular matrix protein expressed predominantly in adipose and female-specific tissues and its chromosomal localization to 9q22.3. Genomics 52: 378-381, 1998.
[0026357]16945.Anderson, P.; Nagler-Anderson, C.; O'Brien, C.; Levine, H.; Watkins, S.; Slayter, H. S.; Blue, M. L.; Schlossman, S. F.: A monoclonal antibody reactive with a 15-kDa cytoplasmic granuleassociated protein defines a subpopulation of CD8+ T lymphocytes. J. Immun. 144: 574-582, 1990.
[0026358]16946.Forch, P.; Puig, O.; Kedersha, N.; Martinez, C.; Granneman, S.; Seraphin, B.; Anderson, P.; Valcarcel, J.: The apoptosis-promoting factor TIA-1 is a regulator of alternative pre-mRNA splicing. Molec. Cell 6: 1089-1098, 2000.
[0026359]16947.Kawakami, A.; Tian, Q.; Streuli, M.; Poe, M.; Edelhoff, S.; Disteche, C. M.; Anderson, P.: Intron-exon organization and chromosomal localization of the human TIA-1 gene. J. Immun. 152: 4937-4945, 1994.
[0026360]16948.Tian, Q.; Streuli, M.; Saito, H.; Schlossman, S. F.; Anderson, P.: A polyadenylate binding protein localized to the granules of cytolytic lymphocytes induces DNA fragmentation in target cells. Cell 67: 629-639, 1991.
[0026361]16949.Neubauer, G.; King, A.; Rappsilber, J.; Calvio, C.; Watson, M.; Ajuh, P.; Sleeman, J.; Lamond, A.; Mann, M.: Mass spectrometry and EST-database searching allows characterisation of the multi-protein spliceosome complex. Nature Genet. 20: 46-50, 1998.
[0026362]16950.Talbot, K.; Miguel-Aliaga, I.; Mohaghegh, P.; Ponting, C. P.; Davies, K. E.: Characterization of a gene encoding survival motor neuron (SMN)-related protein, a constituent of the spliceosome complex. Hum. Molec. Genet. 7: 2149-2156, 1998.
[0026363]16951.Sillekens, P. T. G.; Beijer, R. P.; Habets, W. J.; van Venrooij, W. J.: Molecular cloning of the cDNA for the human U2 snRNA-specific A-prime protein. Nucleic Acids Res. 17: 1893-1906, 1989.
[0026364]16952.Zheng, B.; Albrecht, U.; Kaasik, K.; Sage, M.; Lu, W.; Vaishnav, S.; Li, Q.; Sun, Z. S.; Eichele, G.; Bradley, A.; Lee, C. C.: Nonredundant roles of the mPer1 and mPer2 genes in the mammalian circadian clock. Cell 105: 683-694, 2001.
[0026365]16953.Mattei, M.-G.; Roeckel, N.; Olsen, B. R.; Apte, S. S.: Genes of the membrane-type matrix metalloproteinase (MT-MMP) gene family, MMP14, MMP15, and MMP16, localize to human chromosomes 14, 16, and 8, respectively. Genomics 40: 168-169, 1997.
[0026366]16954.Sato, H.; Tanaka, M.; Takino, T.; Inoue, M.; Seiki, M.: Assignment of the human genes for membrane-type-1, -2, and -3 matrix metalloproteinases (MMP14, MMP15, and MMP16) to 14q12.2, 16q12.2-q21, and 8q21, respectively, by in situ hybridization. Genomics 39: 412-413, 1997.
[0026367]16955.Takino, T.; Sato, H.; Shinagawa, A.; Seiki, M.: Identification of the second membranetype matrix metalloproteinase (MT-MMP-2) gene from a human placenta cDNA library: MT-MMPs form a unique membrane-type subclass in the MMP family. J. Biol. Chem. 270: 23013-23020, 1995.
[0026368]16956.Will, H.; Hinzmann, B.: cDNA sequence and mRNA tissue distribution of a novel human matrix metalloproteinase with a potential transmembrane segment. Europ. J. Biochem. 231: 602-608, 1995.
[0026369]16957.Alliel, P. M.; Perin, J.-P.; Jolles, P.; Bonnet, F. J.: Testican, a multidomain testicular proteoglycan resembling modulators of cell social behaviour. Europ. J. Biochem. 214: 347-350, 1993.
[0026370]16958.Charbonnier, F.; Perin, J.-P.; Mattei, M.-G.; Camuzat, A.; Bonnet, F.; Gressin, L.; Alliel, P. M.: Genomic organization of the human SPOCK gene and its chromosomal localization to 5q31. Genomics 48: 377-380, 1998.
[0026371]16959.Cheng, J.-F.; Boyartchuk, V.; Zhu, Y.: Isolation and mapping of human chromosome 21 cDNA: progress in constructing a chromosome 21 expression map. Genomics 23: 75-84, 1994.
[0026372]16960.Sirotkin, H.; O'Donnell, H.; DasGupta, R.; Halford, S.; St. Jore, B.; Puech, A.; Parimoo, S.; Morrow, B.; Skoultchi, A.; Weissman, S. M.; Scambler, P.; Kucherlapati, R.: Identification of a new human catenin gene family member (ARVCF) from the region deleted in velo-cardio-facial syndrome. Genomics 41: 75-83, 1997.
[0026373]16961.Andrews, N. C.: Mining copper transport genes. Proc. Nat. Acad. Sci. 98: 6543-6545, 2001.
[0026374]16962.Boultwood, J.; Strickson, A. J.; Jabs, E. W.; Cheng, J.-F.; Fidler, C.; Wainscoat, J. S.: Physical mapping of the human ATX1 homologue (HAH1) to the critical region of the 5q- syndrome within 5q32, and immediately adjacent to the SPARC gene. Hum. Genet. 106: 127-129, 2000.
[0026375]16963.Hamza, I.; Faisst, A.; Prohaska, J.; Chen, J.; Gruss, P.; Gitlin, J. D.: The metallochaperone Atox1 plays a critical role in perinatal copper homeostasis. Proc. Nat. Acad. Sci. 98: 6848-6852, 2001.
[0026376]16964.Klomp, L. W. J.; Lin, S.-J.; Yuan, D. S.; Klausner, R. D.; Culotta, V. C.; Gitlin, J. D.: Identification and functional expression of HAH1, a novel human gene involved in copper homeostasis. J. Biol. Chem. 272: 9221-9226, 1997.
[0026377]16965.Castro, A. M.; Snyder, L. M.: G6PD San Jose: a new variant characterized by NADPH inhibition studies. Humangenetik 21: 361-363, 1974.
[0026378]16966.Cayanis, E.; Gomperts, E. D.; Balinsky, D.; Disler, P.; Myers, A.: G6PD Hillbrow: a new variant of glucose-6-phosphate dehydrogenase associated with drug-induced haemolytic anaemia. Brit. J. Haemat. 30: 343-350, 1975.
[0026379]16967.Cayanis, E.; Lane, A. B.; Jenkins, T.; Nurse, G. T.; Balinsky, D.: Glucose-6-phosphate dehydrogenase Porbandar: a new slow variant with slightly reduced activity in a South African family of Indian descent. Biochem. Genet. 15: 765-773, 1977.
[0026380]16968.Cederbaum, A. I.; Beutler, E.: Nonspherocytic hemolytic anemia due to G6PD Grand Prairie. I.R.C.S. 3: 579, 1975.
[0026381]16969.Chan, T. K.; Todd, D.: Characteristics and distribution of glucose-6-phosphate dehydrogenase-deficient variants in South China. Am. J. Hum. Genet. 24: 475-484, 1972.
[0026382]16970.Chan, T. K.; Todd, D.; Lai, M. C. S.: Glucose 6-phosphate dehydrogenase: identity of erythrocyte and leukocyte enzyme with report of a new variant in Chinese. Biochem. Genet. 6: 119-124, 1972.
[0026383]16971.Chang, J.-G.; Chiou, S.-S.; Perng, L.-I.; Chen, T.-C.; Liu, T.-C.; Lee, L.-S.; Chen, P.-H.; Tang, T. K.: Molecular characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency by natural and amplification created restriction sites: five mutations account for most G6PD deficiency cases in Taiwan. Blood 80: 1079-1082, 1992.
[0026384]16972.Chen, E. Y.; Cheng, A.; Lee, A.; Kuang, W.-J.; Hillier, L.; Green, P.; Schlessinger, D.; Ciccodicola, A.; D'Urso, M.: Sequence of human glucose-6-phosphate dehydrogenase cloned in plasmids and a yeast artificial chromosome. Genomics 10: 792-800, 1991.
[0026385]16973.Chen, H.-L.; Huang, M.-J.; Huang, C.-S.; Tang, T. K.: G6PD NanKang (517 T-to-C; 173 phe-to-leu): a new Chinese G6PD variant associated with neonatal jaundice. Hum. Hered. 46: 201-204, 1996.
[0026386]16974.Chernyak, N. B.; Batischev, A. I.; Lanzina, N. V.; Tokarev, Y. N.; Alexeyev, G. A.: Electrophoretic and kinetic properties of glucose-6-phosphate dehydrogenase from erythrocytes or patients with hemolytic anemia, related to deficiency of the enzyme activity. Vopr. Med. Khim. 23: 166-171, 1977.
[0026387]16975.Childs, B.; Zinkham, W.; Browne, E. A.; Kimbro, E. L.; Torbert, J. V.: A genetic study of a defect in glutathione metabolism of the erythrocytes. Bull. Johns Hopkins Hosp. 102: 21-37, 1958.
[0026388]16976.Chiu, D. T. Y.; Zuo, L.; Chao, L.; Chen, E.; Louie, E.; Lubin, B.; Liu, T. Z.; Du, C. S.: Molecular characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency in patients of Chinese descent and identification of new base substitutions in the human G6PD gene. Blood 81: 2150-2154, 1993.
[0026389]16977.Chockkalingam, K.; Board, P. G.: Further evidence for heterogeneity of glucose-6-phosphate dehydrogenase deficiency in Papua New Guinea. Hum. Genet. 56: 209-212, 1980.
[0026390]16978.Chockkalingam, K.; Board, P. G.; Breguet, G.: Glucose-6-phosphate dehydrogenase variants of Bali Island (Indonesia). Hum. Genet. 60: 60-62, 1982.
[0026391]16979.Chockkalingam, K.; Board, P. G.; Nurse, G. T.: Glucose-6-phosphate dehydrogenase deficiency in Papua New Guinea: the description of 13 new variants. Hum. Genet. 60: 189-192, 1982.
[0026392]16980.Chuanshu, D.; Yankang, X.; Lin, W. Q. R.; Xiaoyun, H.: Studies on erythrocyte glucose-6-phosphate dehydrogenase variants in Chinese. I. Gd(-) Lizu-Baisha. Acta Acad. Med. Zhong Shan 2: 649-658, 1981.
[0026393]16981.Cocco, P.; Todde, P.; Fornera, S.; Manca, M. B.; Manca, P. Sias, A. R.: Mortality in a cohort of men expressing the glucose-6-phosphate dehydrogenase deficiency. Blood 91: 706-709, 1998.
[0026394]16982.Cohn, J.; Carter, N.; Warburg, M.: Glucose-6-phosphate dehydrogenase deficiency in a native Danish family: a new variant. Scand. J. Haemat. 23: 403-406, 1979.
[0026395]16983.Colonna-Romano, S.; Iolascon, A.; Lippo, S.; Pinto, L.; Cutillo, S.; Battistuzzi, G.: Genetic heterogeneity at the glucose-6-phosphate dehydrogenase locus in southern Italy: a study on the population of Naples. Hum. Genet. 69: 228-232, 1985.
[0026396]16984.Cooper, D. W.; Johnston, P. G.; Murtagh, C. E.; Sharman, G. B.; Vandeberg, J. L.; Poole, W. E.: Sex-linked isozymes and sex-chromosome evolution and inactivation in kangaroos.In: Markeit, C. L.: Isozymes. Developmental Biology. New York: Academic Press (pub.) III: 1975. Pp. 559-573.
[0026397]16985.Cooper, M. R.; Dechatelet, L. R.; McCall, C. E.; Lavia, M. F.; Spurr, C. L.; Baehner, R. L.: Complete deficiency of leukocyte glucose-6-phosphate dehydrogenase with defective bactericidal activity. J. Clin. Invest. 51: 769-778, 1972.
[0026398]16986.Corash, L.; Spielberg, S.; Bartsocas, C.; Boxer, L.; Steinherz, R.; Sheetz, M.; Egan, M.; Schlessleman, J.; Schulman, J. D.: Reduced chronic hemolysis during high-dose vitamin E administration in Mediterranean-type glucose-6-phosphate dehydrogenase deficiency. New Eng. J. Med. 303: 416-420, 1980.
[0026399]16987.Corcoran, C. M.; Calabro, V.; Tamagnini, G.; Town, M.; Haidar, B.; Vulliamy, T. J.; Mason, P. J.; Luzzatto, L.: Molecular heterogeneity underlying the G6PD Mediterranean phenotype. Hum. Genet. 88: 688-690, 1992.
[0026400]16988.Costa, E.; Cabeda, J. M.; Vieira, E.; Pinto, R.; Pereira, S. A.; Ferraz, L.; Santos, R.; Barbot, J.: Glucose-6-phosphate dehydrogenase Aveiro: a de novo mutation associated with chronic nonspherocytic hemolytic anemia. Blood 95: 1499-1501, 2000.
[0026401]16989.Crookston, J. H.; Yoshida, A.; Lin, M.; Booser, D. J.: G6PD Toronto. Biochem. Genet. 8: 259-265, 1973.
[0026402]16990.Csepreghy, M.; Hall, M. K.; Berkow, R. L.; Jackson, S.; Prchal, J. T.: Characterization of a new G6PD variant: G6PD Titusville. Am. J. Med. Sci. 297: 114-117, 1989.
[0026403]16991.Csepreghy, M.; Yeilding, A.; Lilly, M.; Hall, K.; Scott, C. W.; Prchal, J. T.: Characterization of a new glucose-6-phosphate dehydrogenase variant: G6PD Central City. Am. J. Hemat. 28: 61-62, 1988.
[0026404]16992.D'Urso, M.; Luzzatto, L.; Perroni, L.; Ciccodicola, A.; Gentile, G.; Peluso, I.; Persico, M. G.; Pizzella, T.; Toniolo, D.; Vulliamy, T. J.: An extensive search for RFLP in the human glucose-6-phosphate dehydrogenase locus has revealed a silent mutation in the coding sequence. Am. J. Hum. Genet. 42: 735-741, 1988.
[0026405]16993.Roessler, B. J.; Palella, T. D.; Heidler, S.; Becker, M. A.: Identification of distinct PRPS1 mutations in two patients with X-linked phosphoribosylpyrophosphate synthetase superactivity. (Abstract) Clin. Res. 39: 267A, 1991.
[0026406]16994.Moreno Fuenmayor, H.; Roldan-Paris, L.; Bermudez, H.: Ectodermal dysplasia in females and inversion of chromosome 9. J. Med. Genet. 18: 214-217, 1981.
[0026407]16995.Nakata, M.; Koshiba, H.; Eto, K.; Nance, W. E.: A genetic study of anodontia in Xlinked hypohidrotic ectodermal dysplasia. Am. J. Hum. Genet. 32: 908-919, 1980.
[0026408]16996.Passarge, E.; Fries, E.: X-chromosome inactivation in X-linked hypohidrotic ectodermal dysplasia. Nature N.B. 245: 58-59, 1973.
[0026409]16997.Pinheiro, M.; Freire-Maia, N.: Christ-Siemens-Touraine syndrome--a clinical and genetic analysis of a large Brazilian kindred. I. Affected females. II. Affected males. III. Carrier detection. Am. J. Med. Genet. 4: 113-134, 1979.
[0026410]16998.Pinheiro, M.; Ideriha, M. T.; Chautard-Freire-Maia, E. A.; Freire-Maia, N.; Primo-Parmo, S. L.: Christ-Siemens-Touraine syndrome: investigations on two large Brazilian kindreds with a new estimate of the manifestation rate among carriers. Hum. Genet. 57: 428-431, 1981.
[0026411]16999.Reed, W. B.; Lopez, D. A.; Landing, B. H.: Clinical spectrum of anhidrotic ectodermal dysplasia. Arch. Derm. 102: 134-143, 1970.
[0026412]17000.Richards, W.; Kaplan, M.: Anhidrotic ectodermal dysplasia: an unusual case of pyrexia in the newborn. Am. J. Dis. Child. 117: 597-598, 1969.
[0026413]17001.Roberts, E.: The inheritance of anhidrosis associated with anodontia. J.A.M.A. 93: 277-279, 1929.
[0026414]17002.Saksena, S. S.; Bixler, D.: Facial morphometrics in the identification of gene carriers of X-linked hypohidrotic ectodermal dysplasia. Am. J. Med. Genet. 35: 105-114, 1990.
[0026415]17003.Simpson, J. L.; Allen, F. H., Jr.; New, M.; German, J.: Absence of close linkage between the locus for Xg and the locus for anhidrotic ectodermal dysplasia. Vox Sang. 17: 465-467, 1969.
[0026416]17004.Singh, A.; Jolly, S. S.; Kaur, S.: Hereditary ectodermal dysplasia. Brit. J. Derm. 74: 34-37, 1962.
[0026417]17005.Soderholm, A.-L.; Kaitila, I.: Expression of X-linked hypohidrotic ectodermal dysplasia in six males and in their mothers. Clin. Genet. 28: 136-144, 1985.
[0026418]17006.Srivastava, A. K.; Durmowicz, M. C.; Hartung, A. J.; Hudson, J.; Ouzts, L. V.; Donovan, D. M.; Cui, C.-Y.; Schlessinger, D.: Ectodysplasin-A1 is sufficient to rescue both hair growth and sweat glands in Tabby mice. Hum. Molec. Genet. 10: 2973-2981, 2001.
[0026419]17007.Srivastava, A. K.; Montonen, O.; Saarialho-Kere, U.; Chen, E.; Baybayan, P.; Pispa, J.; Limon, J.; Schlessinger, D.; Kere, J.: Fine mapping of the EDA gene: a translocation breakpoint is associated with a CpG island that is transcribed. Am. J. Hum. Genet. 58: 126-132, 1996.
[0026420]17008.Srivastava, A. K.; Pispa, J.; Hartung, A. J.; Du, Y.; Ezer, S.; Jenks, T.; Shimada, T.; Pekkanen, M.; Mikkola, M. L.; Ko, M. S. H.; Thesleff, I.; Kere, J.; Schlessinger, D.: The Tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains. Proc. Nat. Acad. Sci. 94: 13069-13074, 1997.
[0026421]17009.Thadani, K. I.: The toothless men of Sind. J. Hered. 25: 483-484, 1934.
[0026422]17010.Thurnam, J.: Two cases in which the skin, hair and teeth were very imperfectly developed. Proc. R. M. Chir. Soc. London 31: 71-82, 1848.
[0026423]17011.Turleau, C.; Niaudet, P.; Cabanis, M.-O.; Plessis, G.; Cau, D.; de Grouchy, J.: X-linked hypohidrotic ectodermal dysplasia and t(X;12) in a female. Clin. Genet. 35: 462-466, 1989.
[0026424]17012.Vargas, G. A.; Fantino, E.; George-Nascimento, C.; Gargus, J. J.; Haigler, H. T.: Reduced epidermal growth factor receptor expression in hypohidrotic ectodermal dysplasia and Tabby mice. J. Clin. Invest. 97: 2426-2432, 1996.
[0026425]17013.Vincent, M. C.; Biancalana, V.; Ginisty, D.; Mandel, J. L.; Calvas, P.: Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia. Europ. J. Hum. Genet. 9: 355-363, 2001.
[0026426]17014.WPA, Federal Writers' Project: Mississippi: A Guide to the Magnolia State. New York: Hastings House (pub.) 1938. Pp. 359 only.
[0026427]17015.Yotsumoto, S.; Fukumaru, S.; Matsushita, S.; Oku, T.; Kobayashi, K.; Saheki, T.; Kanzaki, T.: A novel point mutation of the EDA gene in a Japanese family with anhidrotic ectodermal dysplasia. (Letter) J. Invest. Derm. 111: 1246-1247, 1998.
[0026428]17016.Ballabio, A.: Personal Communication. Houston, Texas 3/11/1993.
[0026429]17017.Bardin, C. W.; Ross, G. T.; Rifkind, A. B.; Cargille, C. M.; Lipsett, M. B.: Studies of the pituitary Leydig cell axis in young men with hypogonadotropic hypogonadism and hyposmia: comparison with normal men, prepubertal boys, and hypo-pituitary patients. J. Clin. Invest. 48: 2046-2056, 1969.
[0026430]17018.Bick, D.; Franco, B.; Sherins, R. J.; Heye, B.; Pike, L.; Crawford, J.; Maddalena, A.; Incerti, B.; Pragliola, A.; Meitinger, T.; Ballabio, A.: Brief report: intragenic deletion of the KALIG-1 gene in Kallmann's syndrome. New Eng. J. Med. 326: 1752-1755, 1992.
[0026431]17019.Bick, D. P.; Schwanzel-Fukuda, M.; Pfaff, D. W.; Schorderet, D. F.; Price, P. A.; Campbell, L.; Huff, R. W.; Moore, C. M.: Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis and Kallmann syndrome due to an Xp deletion: evidence for a neuronal migration defect in Kallmann syndrome. (Abstract) Am. J. Hum. Genet. 45 (suppl.): A252, 1989.
[0026432]17020.Birnbacher, R.; Wandl-Vergesslich, K.; Frisch, H.: Diagnosis of X-recessive Kallmann syndrome in early infancy: evidence of hypoplastic rhinencephalon. Europ. J. Pediat. 153: 245-247, 1994.
[0026433]17021.Bulow, H. E.; Berry, K. L.; Topper, L. H.; Peles, E.; Hobert, O. : Heparan sulfate proteoglycan-dependent induction of axon branching and axon misrouting by the Kallmann syndrome gene kal-1. Proc. Nat. Acad. Sci. 99: 6346-6351, 2002.
[0026434]17022.del Castillo, I.; Cohen-Salmon, M.; Blanchard, S.; Lutfalla, G.; Petit, C.: Structure of the X-linked Kallmann syndrome gene and its homologous pseudogene on the Y chromosome. Nature Genet. 2: 305-310, 1992.
[0026435]17023.De Morsier, G.: Etudes sur les dysraphies cranio-encephaliques. I. Agenesie des lobes olfactifs (telencephaloschizis lateral) et des commissures calleuse et anterieure (telencephaloschizis median): la dysplasie olfacto-genitale. Schweiz. Arch. Neurol. Psychiat. 74: 309-361, 1954.
[0026436]17024.Basse, F.; Stout, J. G.; Sims, P. J.; Wiedmer, T.: Isolation of an erythrocyte membrane protein that mediates Ca(2+)-dependent transbilayer movement of phospholipid. J. Biol. Chem. 271: 17205-17210, 1996.
[0026437]17025.Garrett, R. M.; Johnson, J. L.; Graf, T. N.; Feigenbaum, A.; Rajagopalan, K. V.: Human sulfite oxidase R160Q: identification of the mutation in a sulfite oxidase-deficient patient and expression and characterization of the mutant enzyme. Proc. Nat. Acad. Sci. 95: 6394-6398, 1998.
[0026438]17026.Kisker, C.; Schindelin, H.; Pacheco, A.; Wehbi, W. A.; Garrett, R. M.; Rajagopalan, K. V.; Enemark, J. H.; Rees, D. C.: Molecular basis of sulfite oxidase deficiency from the structure of sulfite oxidase. Cell 91: 973-983, 1997.
[0026439]17027.Naylor, J.; Brinke, A.; Hassock, S.; Green, P. M.; Giannelli, F.: Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions. Hum. Molec. Genet. 2: 1773-1778, 1993.
[0026440]17028.Renieri, A.; Seri, M.; Myers, J. C.; Pihlajaniemi, T.; Massella, L.; Rizzoni, G.; De Marchi, M.: De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome. Hum. Molec. Genet. 1: 127-129, 1992.
[0026441]17029.Corral, J.; Forster, A.; Thompson, S.; Lampert, F.; Kaneko, Y.; Slater, R.; Kroes, W. G.; van der Schoot, C. E.; Ludwig, W.-D.; Karpas, A.; Pocock, C.; Cotter, F.; Rabbitts, T. H.: Acute leukemias of different lineages have similar MLL gene fusions encoding related chimeric proteins resulting from chromosomal translocation. Proc. Nat. Acad. Sci. 90: 8538-8542, 1993.
[0026442]17030.Knebelmann, B.; Deschenes, G.; Gros, F.; Hors, M.-C.; Grunfeld, J.-P.; Tryggvason, K.; Gubler, M.-C.; Antignac, C.: Substitution of arginine for glycine 325 in the collagen alpha-5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments. Am. J. Hum. Genet. 51: 135-142, 1992.
[0026443]17031.Renieri, A.; Seri, M.; Myers, J. C.; Pihlajaniemi, T.; Sessa, A.; Rizzoni, G.; De Marchi, M.: Alport syndrome caused by a 5-prime deletion within the COL4A5 gene. Hum. Genet. 89: 120-121, 1992.
[0026444]17032.Smeets, H. J. M.; Melenhorst, J. J.; Lemmink, H. H.; Schroder, C. H.; Nelen, M. R.; Zhou, J.; Hostikka, S. L.; Tryggvason, K.; Ropers, H.-H.; Jansweijer, M. C. E.; Monnens, L. A. H.; Brunner, H. G.; van Oost, B. A.: Different mutations in the COL4A5 collagen gene in two patients with different features of Alport syndrome. Kidney Int. 42: 83-88, 1992.
[0026445]17033.Thorner, P. S.; Zheng, K.; Kalluri, R.; Jacobs, R.; Hudson, B. G.: Coordinate gene expression of the alpha-3, alpha-4, and alpha-5 chains if collagen type IV. J. Biol. Chem. 271: 13821-13828, 1996.
[0026446]17034.Turco, A. E.; Rossetti, S.; Biasi, M. O.; Rizzoni, G.; Massella, L.; Saarinen, N. H.; Renieri, A.; Pignatti, P. F.; De Marchi, M.: A novel missense mutation in exon 3 of the COL4A5 gene associated with late-onset Alport syndrome. Clin. Genet. 48: 261-263, 1995.
[0026447]17035.Vetrie, D.; Boye, E.; Flinter, F.; Bobrow, M.; Harris, A.: DNA rearrangements in the alpha-5(IV) collagen gene (COL4A5) of individuals with Alport syndrome: further refinement using pulsed-field gel electrophoresis. Genomics 14: 624-633, 1992.
[0026448]17036.Vetrie, D.; Flinter, F.; Bobrow, M.; Harris, A.: Long-range mapping of the gene for the human alpha-5(IV) collagen chain at Xq22-q23. Genomics 12: 130-138, 1992.
[0026449]17037.Zheng, K.; Thorner, P. S.; Marrano, P.; Baumal, R.; McInnes, R. R.: Canine X chromosome-linked hereditary nephritis: a genetic model for human X-linked hereditary nephritis resulting from a single base mutation in the gene encoding the alpha-5 chain of collagen type IV. Proc. Nat. Acad. Sci. 91: 3989-3993, 1994.
[0026450]17038.Zhou, J.; Barker, D. F.; Hostikka, S. L.; Gregory, M. C.; Atkin, C. L.; Tryggvason, K.: Single base mutation in alpha-5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome. Genomics 9: 10-18, 1991.
[0026451]17039.Zhou, J.; Hertz, J. M.; Leinonen, A.; Tryggvason, K.: Complete amino acid sequence of the human alpha-5(IV) collagen chain and identification of a single-base mutation in exon 23 converting glycine 521 in the collagenous domain to cysteine in an Alport syndrome patient. J. Biol. Chem. 267: 12475-12481, 1992.
[0026452]17040.Zhou, J.; Hostikka, S. L.; Chow, L. T.; Tryggvason, K.: Characterization of the 3-prime half of the human type IV collagen alpha-5 gene that is affected in the Alport syndrome. Genomics 9: 1-9, 1991.
[0026453]17041.Oohashi, T.; Sugimoto, M.; Mattei, M.-G.; Ninomiya, Y.: Identification of a new collagen IV chain, alpha-6(IV), by cDNA isolation and assignment of the gene to chromosome Xq22, which is the same locus for COL4A5. J. Biol. Chem. 269: 7520-7526, 1994.
[0026454]17042.Oohashi, T.; Ueki, Y.; Sugimoto, M.; Ninomiya, Y.: Isolation and structure of the COL4A6 gene encoding the human alpha-6(IV) collagen chain and comparison with other type IV collagen genes. J. Biol. Chem. 270: 26863-26867, 1995.
[0026455]17043.Sugimoto, M.; Oohashi, T.; Ninomiya, Y.: The genes COL4A5 and COL4A6, coding for basement membrane collagen chains alpha-5(IV) and alpha-6(IV), are located head-to-head in close proximity on human chromosome Xq22 and COL4A6 is transcribed from two alternative promoters. Proc. Nat. Acad. Sci. 91: 11679-11683, 1994.
[0026456]17044.Parry, P.; Wei, Y.; Evans, G.: Cloning and characterization of the t(X;11) breakpoint from a leukemic cell line identify a new member of the forkhead gene family. Genes Chromosomes Cancer 11: 79-84, 1994.
[0026457]17045.Peters, U.; Haberhausen, G.; Kostrzewa, M.; Nolte, D.; Muller, U.: AFX1 and p54(nrb): fine mapping, genomic structure, and exclusion as candidate genes of X-linked dystonia parkinsonism. Hum. Genet. 100: 569-572, 1997.
[0026458]17046.Bohme, B.; VandenBos, T.; Cerretti, D. P.; Park, L. S.; Holtrich, U.; Rubsamen-Waigmann, H.; Strebhardt, K.: Cell-cell adhesion mediated by binding of membrane-anchored ligand LERK-2 to the EPH-related receptor human embryonal kinase 2 promotes tyrosine kinase activity. J. Biol. Chem. 271: 24747-24752, 1996.
[0026459]17047.Fletcher, F. A.; Huebner, K.; Shaffer, L. G.; Fairweather, N. D.; Monaco, A. P.; Muller, U.; Druck, T.; Simoneaux, D. K.; Chelly, J.; Belmont, J. W.; Beckmann, M. P.; Lyman, S. D.: Assignment of the gene (EPLG2) encoding a high-affinity binding protein for the receptor tyrosine kinase Elk to a 200-kilobasepair region in human chromosome Xq12. Genomics 25: 334-335, 1995.
[0026460]17048.Fletcher, F. A.; Renshaw, B.; Hollingsworth, T.; Baum, P.; Lyman, S. D.; Jenkins, N. A.; Gilbert, D. J.; Copeland, N. G.; Davison, B. L.: Genomic organization and chromosomal localization of mouse Eplg2, a gene encoding a binding protein for the receptor tyrosine kinase Elk. Genomics 24: 127-132, 1994.
[0026461]17049.Palmer, A.; Zimmer, M.; Erdmann, K. S.; Eulenburg, V.; Porthin, A.; Heumann, R.; Deutsch, U.; Klein, R.: EphrinB phosphorylation and reverse signaling: regulation by Src kinases and PTP-BL phosphatase. Molec. Cell 9: 725-737, 2002.
[0026462]17050.Gregor, P.; Nash, S. R.; Caron, M. G.; Seldin, M. F.; Warren, S. T.: Assignment of the creatine transporter gene (SLC6A8) to human chromosome Xq28 telomeric to G6PD. Genomics 25: 332-333, 1995.
[0026463]17051.Hahn, K. A.; Salomons, G. S.; Tackels-Horne, D.; Wood, T. C.; Taylor, H. A.; Schroer, R. J.; Lubs, H. A.; Jakobs, C.; Olson, R. L.; Holden, K. R.; Stevenson, R. E.; Schwartz, C. E.: X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatinetransporter gene (SLC6A8) located in Xq28. Am. J. Hum. Genet. 70: 1349-1356, 2002.
[0026464]17052.Item, C. B.; Stockler-Ipsiroglu, S.; Stromberger, C.; Muhl, A.; Alessandri, M. G.; Bianchi, M. C.; Tosetti, M.; Fornai, F.; Cioni, G.: Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans. Am. J. Hum. Genet. 69: 1127-33, 2001.
[0026465]17053.Iyer, G. S.; Krahe, R.; Goodwin, L. A.; Doggett, N. A.; Siciliano, M. J.; Funanage, V. L.; Proujansky, R.: Identification of a testis-expressed creatine transporter gene at 16p11.2 and confirmation of the X-linked locus to Xq28. Genomics 34: 143-146, 1996.
[0026466]17054.Nash, S. R.; Giros, B.; Kingsmore, S. F.; Rochelle, J. M.; Suter, S. T.; Gregor, P.; Seldin, M. F.; Caron, M. G.: Cloning, pharmacological characterization, and genomic localization of the human creatine transporter. Receptors Channels 2: 165-174, 1994.
[0026467]17055.Salomons, G. S.; van Dooren, S. J. M.; Verhoeven, N. M.; Cecil, K. M.; Ball, W. S.; Degrauw, T. J.; Jakobs, C.: X-linked creatine-transporter gene (SLC6A8) defect: a new creatinedeficiency syndrome. Am. J. Hum. Genet. 68: 1497-1500, 2001.
[0026468]17056.Sandoval, N.; Bauer, D.; Brenner, V.; Coy, J. F.; Drescher, B.; Kioschis, P.; Korn, B.; Nyakatura, G.; Poustka, A.; Reichwald, K.; Rosenthal, A.; Platzer, M.: The genomic organization of a human creatine transporter (CRTR) gene located in Xq28. Genomics 35: 383-385, 1996.
[0026469]17057.Stockler, S.; Hanefeld, F.; Frahm, J.: Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism. Lancet 348: 789-90, 1996.
[0026470]17058.Brzustowicz, L. M.; Farrell, S.; Khan, M. B.; Weksberg, R.: Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndrome. Am. J. Hum. Genet. 65: 779-783, 1999.
[0026471]17059.Filmus, J.; Church, J. G.; Buick, R. N.: Isolation of a cDNA corresponding to a developmentally regulated transcript in rat intestine. Molec. Cell Biol. 4243-4249, 1988.
[0026472]17060.Gelb, B. D.; Shi, G.-P.; Chapman, H. A.; Desnick, R. J.: Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency. Science 273: 1236-1238, 1996.
[0026473]17061.Gelb, B. D.; Willner, J. P.; Dunn, T. M.; Kardon, N. B.; Verloes, A.; Poncin, J.; Desnick, R. J.: Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis. Am. J. Hum. Genet. 62: 848-854, 1998.
[0026474]17062.Polymeropoulos, M. H.; Ortiz De Luna, R. I.; Ide, S. E.; Torres, R.; Rubenstein, J.; Francomano, C. A.: The gene for pycnodysostosis maps to human chromosome 1cen-q21. Nature Genet. 10: 238-239, 1995.
[0026475]17063.Bourke, E.; Frindt, G.; Flynn, P.; Schreiner, G. E.: Primary hyperoxaluria with normal alpha-ketoglutarate:glyoxylate carboligase activity: treatment with isocarboxazid. Ann. Intern. Med. 76: 279-284, 1972.
[0026476]17064.Danpure, C. J.: Personal Communication. Middlesex, England 6/16/1988.
[0026477]17065.Danpure, C. J.: Primary hyperoxaluria type 1 and peroxisome-to-mitochondrion mistargeting of alanine:glyoxylate aminotransferase. Biochimie 75: 309-315, 1993.
[0026478]17066.Danpure, C. J.; Jennings, P. R.: Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I. FEBS Lett. 201: 20-24, 1986.
[0026479]17067.Danpure, C. J.; Jennings, P. R.; Watts, R. W. E.: Enzymological diagnosis of primary hyperoxaluria type 1 by measurement of hepatic alanine:glyoxylate aminotransferase activity. Lancet I: 289-291, 1987.
[0026480]17068.Brunelli, S.; Faiella, A.; Capra, V.; Nigro, V.; Simeone, A.; Cama, A.; Boncinelli, E.: Germline mutation in the homeobox gene EMX2 in patients with severe schizencephaly. Nature Genet. 12: 94-96, 1996.
[0026481]17069.Burg, J.; Conzelmann, E.; Sandhoff, K.; Solomon, E.; Swallow, D. M.: Mapping of the gene coding for the human GM2 activator protein to chromosome 5. Ann. Hum. Genet. 49: 41-45, 1985.
[0026482]17070.Chen, B.; Rigat, B.; Curry, C.; Mahuran, D. J.: Structure of the GM2A gene: identification of an exon 2 nonsense mutation and a naturally occurring transcript with an in-frame deletion of exon 2. Am. J. Hum. Genet. 65: 77-87, 1999.
[0026483]17071.Conzelmann, E.; Sandhoff, K.: AB variant of infantile Gm2-gangliosidosis: deficiency of a factor necessary for stimulation of hexosaminidase A-catalyzed degradation of ganglioside Gm2 and glycolipid Ga2. Proc. Nat. Acad. Sci. 75: 3979-3983, 1978.
[0026484]17072.Hechtman, P.; Gordon, B. A.; Ng Ying Kin, N. M. K.: Deficiency of the hexosaminidase A activator protein in a case of GM2 gangliosidosis; variant AB. Pediat. Res. 16: 217-222, 1982.
[0026485]17073.Heng, H. H. Q.; Xie, B.; Shi, X.-M.; Tsui, L.-C.; Mahuran, D. J. : Refined mapping of the GM2 activator protein (GM2A) locus to 5q31.3-q33.1, distal to the spinal muscular atrophy locus. Genomics 18: 429-431, 1993.
[0026486]17074.Kleyn, P. W.; Brzustowicz, L. M.; Wilhelmsen, K. C.; Freimer, N. B.; Miller, J. M.; Munsat, T. L.; Gilliam, T. C.: Spinal muscular atrophy is not the result of mutations at the betahexosaminidase or GM(2)-activator locus. Neurology 41: 1418-1422, 1991.
[0026487]17075.Li, S. C.; Hirabayashi, Y.; Li, Y. T.: A new variant of type-AB GM2-gangliosidosis. Biochem. Biophys. Res. Commun. 101: 479-485, 1981.
[0026488]17076.Barton, D. E.; Yang-Feng, T. L.; Francke, U.: The human tyrosine aminotransferase gene mapped to the long arm of chromosome 16 (region 16q22-q24) by somatic cell hybrid analysis and in situ hybridization. Hum. Genet. 72: 221-224, 1986.
[0026489]17077.Beinfang, D. C.; Kuwabara, T.; Pueschel, S. M.: The Richner-Hanhart syndrome: report of a case with associated tyrosinemia. Arch. Ophthal. 94: 1133-1137, 1976.
[0026490]17078.Bohnert, A.; Anton-Lamprecht, I.: Richner-Hanhart's syndrome: ultrastructural abnormalities of epidermal keratinization indicating a causal relationship to high intracellular tyrosine levels. J. Invest. Derm. 79: 68-74, 1982.
[0026491]17079.Buist, N.: Phenylketonuria and related problems.In: Nyhan, W. L.: Amino Acid Metabolism and Genetic Variation. New York: McGraw-Hill (pub.) 1967. Pp. 117 only.
[0026492]17080.Chitayat, D.; Balbul, A.; Hani, V.; Mamer, O. A.; Clow, C.; Scriver, C. R.: Hereditary tyrosinaemia type II in a consanguineous Ashkenazi Jewish family: intrafamilial variation in phenotype; absence of parental phenotype effects on the fetus. J. Inherit. Metab. Dis. 15: 198-203, 1992.
[0026493]17081.Crovato, F.; Desirello, G.; Gatti, R.; Babbini, N.; Rebora, A. : Richner-Hanhart syndrome spares a plantar autograft. Arch. Derm. 121: 539-540, 1985.
[0026494]17082.Fellman, J. H.; Vanbellinghen, P. J.; Jones, R. T.; Koler, R. D. : Soluble and mitochondrial forms of tyrosine aminotransferase: relationship to human tyrosinemia. Biochemistry 8: 615-622, 1969.
[0026495]17083.Garibaldi, L. R.; Siliato, F.; De Martini, I.; Scarsi, M. R.; Romano, C.: Oculocutaneous tyrosinosis: report of two cases in the same family. Helv. Paediat. Acta 32: 173-180, 1977.
[0026496]17084.Goldsmith, L. A.; Kang, E. S.; Bienfang, D. C.; Jimbow, K.; Gerald, P. S.; Baden, H. P.: Tyrosinemia with plantar and palmar keratosis and keratitis. J. Pediat. 83: 798-805, 1973.
[0026497]17085.Hanhart, E.: Neue Sonderformen von Keratosis palmo-plantaris, u.a. eine regelmaessig-dominante mit systematisierten Lipomen, ferner 2 einfach-rezessive mit Schwachsinn und z.T. mit Hornhautveraenderungen des Auges (Ektodermatosyndrom). Dermatologica 94: 286-308, 1947.
[0026498]17086.Hunziker, N.: Richner-Hanhart syndrome and tyrosinemia type II. Dermatologica 160: 180-189, 1980.
[0026499]17087.Kennaway, N. G.; Buist, N. R. M.: Metabolic studies in a patient with hepatic cytosol tyrosine aminotransferase deficiency. Pediat. Res. 5: 287-297, 1971.
[0026500]17088.Muller, G.; Scherer, G.; Zentgraf, H.; Ruppert, S.; Herrmann, B.; Lehrach, H.; Schutz, G.: Isolation, characterization and chromosomal mapping of the mouse tyrosine aminotransferase gene. J. Molec. Biol. 184: 367-373, 1985.
[0026501]17089.Natt, E.; Kao, F.-T.; Rettenmeier, R.; Scherer, G.: Assignment of the human tyrosine aminotransferase gene to chromosome 16. Hum. Genet. 72: 225-228, 1986.
[0026502]17090.Kim, E. K.; Yoo, O. J.; Song, K. Y.; Yoo, H. W.; Choi, S. Y.; Cho, S. W.; Hahn, S. H.: Identification of three novel mutations and a high frequency of the arg778-to-leu mutation in Korean patients with Wilson disease. Hum. Mutat. 11: 275-278, 1998.
[0026503]17091.Kuo, Y.-M.; Gitschier, J.; Packman, S.: Developmental expression of the mouse mottled and toxic milk genes suggests distinct functions for the Menkes and Wilson disease copper transporters. Hum. Molec. Genet. 6: 1043-1049, 1997.
[0026504]17092.Loudianos, G.; Dessi, V.; Lovicu, M.; Angius, A.; Figus, A.; Lilliu, F.; De Virgiliis, S.; Nurchi, A. M.; Deplano, A.; Moi, P.; Pirastu, M.; Cao, A.: Molecular characterization of Wilson disease in the Sardinian population--evidence of a founder effect. Hum. Mutat. 14: 294-303, 1999.
[0026505]17093.Loudianos, G.; Dessi, V.; Lovicu, M.; Angius, A.; Nurchi, A.; Sturniolo, G. C.; Marcellini, M.; Zancan, L.; Bragetti, P.; Akar, N.; Yagci, R.; Vegnente, A.; Cao, A.; Pirastu, M.: Further delineation of the molecular pathology of Wilson disease in the Mediterranean population. Hum. Mutat. 12: 89-94, 1998.
[0026506]17094.Okada, T.; Shiono, Y.; Hayashi, H.; Satoh, H.; Sawada, T.; Suzuki, A.; Takeda, Y.; Yano, M.; Michitaka, K.; Onji, M.; Mabuchi, H.: Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease. Hum. Mutat. 15: 454-462, 2000.
[0026507]17095.Sasaki, N.; Hayashizaki, Y.; Muramatsu, M.; Matsuda, Y.; Ando, Y.; Kuramoto, T.; Serikawa, T.; Azuma, T.; Naito, A.; Agui, T.; Yamashita, T.; Miyoshi, I.; Takeichi, N.; Kasai, N.: The gene responsible for LEC hepatitis, located on rat chromosome 16, is the homolog to the human Wilson disease gene. Biochem. Biophys. Res. Commun. 202: 512-518, 1994.
[0026508]17096.McKusick, V. A.: On the X Chromosome of Man. Washington: Am. Inst. Biol. Sci. (pub.) 1964.
[0026509]17097.Ichinose, H.; Ohye, T.; Suzuki, T.; Sumi-Ichinose, C.; Nomura, T.; Hagino, Y.; Nagatsu, T.: Molecular cloning of the human Nurr1 gene: characterization of the human gene and cDNAs. Gene 230: 233-239, 1999.
[0026510]17098.Law, S. W.; Conneely, O. M.; DeMayo, F. J.; O'Malley, B. W.: Identification of a new brain-specific transcription factor, NURR1. Molec. Endocr. 6: 2129-2135, 1992.
[0026511]17099.Mages, H. W.; Rilke, O.; Bravo, R.; Senger, G.; Kroczek, R. A. : NOT, a human immediate-early response gene closely related to the steroid/thyroid hormone receptor NAK1/TR3. Molec. Endocr. 8: 1583-1591, 1994.
[0026512]17100.McEvoy, A. N.; Murphy, E. A.; Ponnio, T.; Conneely, O. M.; Bresnihan, B.; FitzGerald, O.; Murphy, E. P.: Activation of nuclear orphan receptor NURR1 transcription by NF-kappaB and cyclic adenosine 5-prime-monophosphate response element-binding protein in rheumatoid arthritis synovial tissue. J. Immun. 168: 2979-2987, 2002.
[0026513]17101.Okabe, T.; Takayanagi, R.; Imasaki, K.; Haji, M.; Nawata, H.; Watanabe, T.: cDNA cloning of a NGFI-B/nur77-related transcription factor from an apoptotic human T cell line. J. Immun. 154: 3871-3879, 1995.
[0026514]17102.Torii, T.; Kawarai, T.; Nakamura, S.; Kawakami, H.: Organization of the human orphan nuclear receptor Nurr1 gene. Gene 230: 225-232, 1999.
[0026515]17103.Xu, P.-Y.; Liang, R.; Jankovic, J.; Hunter, C.; Zeng, Y.-X.; Ashizawa, T.; Lai, D.; Le, W.-D.: Association of homozygous 7048G7049 variant in the intron six of Nurr1 gene with Parkinson's disease. Neurology 58: 881-884, 2002.
[0026516]17104.Hanahan, D.: Signaling vascular morphogenesis and maintenance. Science 277: 48-50, 1997.
[0026517]17105.Wong, S. M. E.; Lowe, A. W.: Sequence of the cDNA encoding human GP-2, the major membrane protein in the secretory granule of the exocrine pancreas. Gene 171: 311-312, 1996.
[0026518]17106.Miyoshi, J.; Higashi, T.; Mukai, H.; Ohuchi, T.; Kakunaga, T.: Structure and transforming potential of the human cot oncogene encoding a putative protein kinase. Molec. Cell. Biol. 11: 4088-4096, 1991.
[0026519]17107.Ohara, R.; Miyoshi, J.; Aoki, M.; Toyoshima, K.: The murine cot proto-oncogene: genome structure and tissue-specific expression. Jpn. J. Cancer Res. 84: 518-525, 1993.
[0026520]17108.Ishihara, H.; Shibasaki, Y.; Kizuki, N.; Wada, T.; Yazaki, Y.; Asano, T.; Oka, Y.: Type I phosphatidylinositol-4-phosphate 5-kinases: cloning of the third isoform and deletion/substitution analysis of members of this novel lipid kinase family. J. Biol. Chem. 273: 8741-8748, 1998.
[0026521]17109.Law, D. J.; Tarle, S. A.; Merchant, J. L.: The human ZBP-89 homolog, located at chromosome 3q21, represses gastrin gene expression. Mammalian Genome 9: 165-167, 1998.
[0026522]17110.Merchant, J. L.; Iyer, G. R.; Taylor, B. R.; Kitchen, J. R.; Mortensen, E. R.; Wang, Z.; Flintoft, R. J.; Michel, J. B.; Bassel-Duby, R.: ZBP-89, a Kruppel-like zinc finger protein, inhibits epidermal growth factor induction of the gastrin promoter. Molec. Cell. Biol. 16: 6644-6653, 1996.
[0026523]17111.Wang, Y.; Kobori, J. A.; Hood, L.: The ht-beta gene encodes a novel CACCC boxbinding protein that regulates T-cell receptor gene expression. Molec. Cell. Biol. 13: 5691-5701, 1993.
[0026524]17112.Everett, R. D.; Meredith, M.; Orr, A.; Cross, A.; Kathoria, M.; Parkinson, J.: A novel ubiquitin-specific protease is dynamically associated with the PML nuclear domain and binds to a herpesvirus regulatory protein. EMBO J. 16: 1519-1530, 1997. Note: Corrected republication of EMBO J.:16: 566-577, 1997.
[0026525]17113.Li, M.; Chen, D.; Shiloh, A.; Luo, J.; Nikolaev, A. Y.; Qin, J.; Gu, W.: Deubiquitination of p53 by HAUSP is an important pathway for p53 stabilization. Nature 416: 648-653, 2002.
[0026526]17114.Robinson, P. A.; Lomonte, P.; Leek, J. P.; Markham, A. F.; Everett, R. D.: Assignment of herpesvirus-associated ubiquitin-specific protease gene HAUSP to human chromosome band 16p13.3 by in situ hybridization. Cytogenet. Cell Genet. 83: 100 only, 1998.
[0026527]17115.Zhou, G.; Bao, Z. Q.; Dixon, J. E.: Components of a new human protein kinase signal transduction pathway. J. Biol. Chem. 270: 12665-12669, 1995.
[0026528]17116.Lee, J.-D.; Ulevitch, R. J.; Han, J.: Primary structure of BMK1: a new mammalian MAP kinase. Biochem. Biophys. Res. Commun. 213: 715-724, 1995.
[0026529]17117.Purandare, S. M.; Lee, J.-D.; Patel, P. I.: Assignment of big MAP kinase (PRKM7) to human chromosome 17 band p11.2 with somatic cell hybrids. Cytogenet. Cell Genet. 83: 258-259, 1998.
[0026530]17118.Regan, C. P.; Li, W.; Boucher, D. M.; Spatz, S.; Su, M. S.; Kuida, K.: Erk5 null mice display multiple extraembryonic vascular and embryonic cardiovascular defects. Proc. Nat. Acad. Sci. 99: 9248-9253, 2002.
[0026531]17119.Brennan, T. M. H.; Landau, D.; Shalev, H.; Lamb, F.; Schutte, B. C.; Walder, R. Y.; Mark, A. L.; Carmi, R.; Sheffield, V. C.: Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p. Am. J. Hum. Genet. 62: 355-361, 1998.
[0026532]17120.Birkenhager, R.; Otto, E.; Schurmann, M. J.; Vollmer, M.; Ruf, E.-M.; Maier-Lutz, I.; Beekmann, F.; Fekete, A.; Omran, H.; Feldmann, D.; Milford, D. V.; Jeck, N.; Konrad, M.; Landau, D.; Knoers, N. V. A. M.; Antignac, C.; Sudbrak, R.; Kispert, A.; Hildebrandt, F.: Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nature Genet. 29: 310-314, 2001.
[0026533]17121.Barlow, G. M.; Chen, X.-N.; Shi, Z. Y.; Lyons, G. E.; Kurnit, D. M.; Celle, L.; Spinner, N. B.; Zackai, E.; Pettenati, M. J.; Van Riper, A. J.; Vekemans, M. J.; Mjaatvedt, C. H.; Korenberg, J. R.: Down syndrome congenital heart disease: a narrowed region and a candidate gene. Genet. Med. 3: 91-101, 2001.
[0026534]17122.Schmucker, D.; Clemens, J. C.; Shu, H.; Worby, C. A.; Xiao, J.; Muda, M.; Dixon, J. E.; Zipursky, S. L.: Drosophila Dscam is an axon guidance receptor exhibiting extraordinary molecular diversity. Cell 101: 671-684, 2000.
[0026535]17123.Yamakawa, K.; Huo, Y.-K.; Haendel, M. A.; Hubert, R.; Chen, X.-N.; Lyons, G. E.; Korenberg, J. R.: DSCAM: a novel member of the immunoglobulin superfamily maps in a Down syndrome region and is involved in the development of the nervous system. Hum. Molec. Genet. 7: 227-237, 1998.
[0026536]17124.Rowles, J.; Scherer, S. W.; Xi, T.; Majer, M.; Nickle, D. C.; Rommens, J. M.; Popov, K. M.; Harris, R. A.; Riebow, N. L.; Xia, J.; Tsui, L.-C.; Bogardus, C.; Prochazka, M.: Cloning and characterization of PDK4 on 7q21.3 encoding a fourth pyruvate dehydrogenase kinase isoenzyme in human. J. Biol. Chem. 271: 22376-22382, 1996.
[0026537]17125.Dode, C.; Weil, D.; Levilliers, J.; Crozet, F.; Chaib, H.; Levi-Acobas, F.; Guilford, P.; Petit, C.: Sequence characterization of a newly identified human alpha-tubulin gene (TUBA2). Genomics 47: 125-130, 1998.
[0026538]17126.Bertolino, E.; Reimund, B.; Wildt-Perinic, D.; Clerc, R. G.: A novel homeobox protein which recognizes a TGT core and functionally interferes with a retinoid-responsive motif. J. Biol. Chem. 270: 31178-31188, 1995.
[0026539]17127.Bertolino, E.; Wildt, S.; Richards, G.; Clerc, R. G.: Expression of a novel murine homeobox gene in the developing cerebellar external granular layer during its proliferation. Dev. Dyn. 205: 410-420, 1996.
[0026540]17128.Gripp, K. W.; Edwards, M. C.; Mowat, D.; Meinecke, P.; Richieri-Costa, A.; Zackai, E. H.; Elledge, S.; Muenke, M.: Mutations in the transcription factor TGIF in holoprosencephaly. (Abstract) Am. J. Hum. Genet. 63: A32, 1998.
[0026541]17129.Sulik, K. K.; Dehart, D. B.; Rogers, J. M.; Chernoff, N.: Teratogenicity of low doses of all-trans retinoic acid in presomite mouse embryos. Teratology 51: 398-403, 1995.
[0026542]17130.Wotton, D.; Lo, R. S.; Lee, S.; Massague, J.: A Smad transcriptional corepressor. Cell 97: 29-39, 1999.
[0026543]17131.Zhu, J.; Petersen, S.; Tessarollo, L.; Nussenzweig, A.: Targeted disruption of the Nijmegen breakage syndrome gene NBS1 leads to early embryonic lethality in mice. Curr. Biol. 11: 105-109, 2001.
[0026544]17132.Cooper, P. R.; Smilinich, N. J.; Day, C. D.; Nowak, N. J.; Reid, L. H.; Pearsall, R. S.; Reece, M.; Prawitt, D.; Landers, J.; Housman, D. E.; Winterpacht, A.; Zabel, B. U.; Pelletier, J.; Weissman, B. E.; Shows, T. B.; Higgins, M. J.: Divergently transcribed overlapping genes expressed in liver and kidney and located in the 11p15.5 imprinted domain. Genomics 49: 38-51, 1998.
[0026545]17133.Kershaw, D. B.; Beck, S. G.; Wharram, B. L.; Wiggins, J. E.; Goyal, M.; Thomas, P. E.; Wiggins, R. C.: Molecular cloning and characterization of human podocalyxin-like protein: orthologous relationship to rabbit PCLP1 and rat podocalyxin. J. Biol. Chem. 272: 15708-15714, 1997.
[0026546]17134.Kershaw, D. B.; Wiggins, J. E.; Wharram, B. L.; Wiggins, R. C. : Assignment of the human podocalyxin-like protein (PODXL) gene to 7q32-q33. Genomics 45: 239-240, 1997.
[0026547]17135.Chan, K. K.; Tsui, S. K. W.; Lee, S. M. Y.; Luk, S. C. W.; Liew, C. C.; Fung, K. P.; Waye, M. M. Y.; Lee, C. Y.: Molecular cloning and characterization of FHL2, a novel LIM domain protein preferentially expressed in human heart. Gene 210: 345-350, 1998.
[0026548]17136.Genini, M.; Schwalbe, P.; Scholl, F. A.; Remppis, A.; Mattei, M.-G.; Schafer, B. W.: Subtractive cloning and characterization of DRAL, a novel LIM-domain protein down-regulated in rhabdomyosarcoma. DNA Cell Biol. 16: 433-442, 1997.
[0026549]17137.Prols, F.; Liehr, T.; Rinke, R.; Rautenstrauss, B.: Assignment of the microvascular endothelial differentiation gene 1 (MDG1) to human chromosome band 14q24.2-q24.3 by fluorescence in situ hybridization. Cytogenet. Cell Genet. 79: 149-150, 1997.
[0026550]17138.Claverie-Martin, F.; Wang, M.; Cohen, S. N.: ARD-1 cDNA from human cells encodes a site-specific single-strand endoribonuclease that functionally resembles Escherichia coli RNase E. J. Biol. Chem. 272: 13823-13828, 1997.
[0026551]17139.Van Eynde, A.; Wera, S.; Beullens, M.; Torrekens, S.; Van Leuven, F.; Stalmans, W.; Bollen, M.: Molecular cloning of NIPP-1, a nuclear inhibitor of protein phosphatase-1, reveals homology with polypeptides involved in RNA processing. J. Biol. Chem. 270: 28068-28074, 1995.
[0026552]17140.Tekin, M.; Dogu, F.; Tacyildiz, N.; Akar, E.; Ikinciogullari, A.; Ogur, G.; Yavuz, G.; Babacan, E.; Akar, N.: 657del5 mutation in the NBS1 gene is associated with Nijmegen breakage syndrome in a Turkish family. Clin. Genet. 62: 84-88, 2002.
[0026553]17141.Varon, R.; Reis, A.; Henze, G.; Einsiedel, H. G.; Sperling, K.; Seeger, K.: Mutations in the Nijmegen breakage syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL). Cancer Res. 61: 3570-3572, 2001.
[0026554]17142.Wilda, M.; Demuth, I.; Concannon, P.; Sperling, K.; Hameister, H.: Expression pattern of the Nijmegen breakage syndrome gene, Nbs1, during murine development. Hum. Molec. Genet. 9: 1739-1744, 2000.
[0026555]17143.Wu, X.; Ranganathan, V.; Weisman, D. S.; Heine, W. F.; Ciccone, D. N.; O'Neill, T. B.; Crick, K. E.; Pierce, K. A.; Lane, W. S.; Rathbun, G.; Livingston, D. M.; Weaver, D. T.: ATM phosphorylation of Nijmegen breakage syndrome protein is required in a DNA damage response. Nature 405: 477-482, 2000.
[0026556]17144.Zhao, S.; Weng, Y.-C.; Yuan, S.-S. F.; Lin, Y.-T.; Hsu, H.-C.; Lin, S.-C. J.; Gerbino, E.; Song, M.; Zdzienicka, M. Z.; Gatti, R. A.; Shay, J. W.; Ziv, Y.; Shiloh, Y.; Lee, E. Y.-H. P.: Functional link between ataxia-telangiectasia and Nijmegen breakage syndrome gene products. Nature 405: 473-477, 2000.
[0026557]17145.Mankodi, A.; Urbinati, C. R.; Yuan, Q.-P.; Moxley, R. T.; Sansone, V.; Krym, M.; Henderson, D.; Schalling, M.; Swanson, M. S.; Thornton, C. A.: Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2. Hum. Molec. Genet. 10: 2165-2170, 2001.
[0026558]17146.Hittner, H. M.; Kretzer, F. L.; Antoszyk, J. H.; Ferrell, R. E.; Mehta, R. S.: Variable expressivity of autosomal dominant anterior segment mesenchymal dysgenesis in six generations. Am. J. Ophthal. 93: 57-70, 1982.
[0026559]17147.Semina, E. V.; Ferrell, R. E.; Mintz-Hittner, H. A.; Bitoun, P.; Alward, W. L. M.; Reiter, R. S.; Funkhauser, C.; Daack-Hirsch, S.; Murray, J. C.: A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD. Nature Genet. 19: 167-170, 1998.
[0026560]17148.Semina, E. V.; Murray, J. C.; Reiter, R.; Hrstka, R. F.; Graw, J.: Deletion in the promoter region and altered expression of Pitx3 homeobox gene in aphakia mice. Hum. Molec. Genet. 9: 1575-1585, 2000.
[0026561]17149.Semina, E. V.; Reiter, R. S.; Murray, J. C.: Isolation of a new homeobox gene belonging to the Pitx/Rieg family: expression during lens development and mapping to the aphakia region on mouse chromosome 19. Hum. Molec. Genet. 6: 2109-2116, 1997.
[0026562]17150.Lin, C.-S.; Shen, W.; Chen, Z. P.; Tu, Y.-H.; Matsudaira, P.: Identification of I-plastin, a human fimbrin isoform expressed in intestine and kidney. Molec. Cell. Biol. 14: 2457-2467, 1994.
[0026563]17151.Kent, J.; Lee, M.; Schedl, A.; Boyle, S.; Fantes, J.; Powell, M.; Rushmere, N.; Abbott, C.; van Heyningen, V.; Bickmore, W. A.: The reticulocalbin gene maps to the WAGR region in human and to the Small eye Harwell deletion in mouse. Genomics 42: 260-267, 1997.
[0026564]17152.Ozawa, M.: Cloning of a human homologue of mouse reticulocalbin reveals conservation of structural domains in the novel endoplasmic reticulum resident Ca2+-binding protein with multiple EF-hand motifs. J. Biochem. 117: 1113-1119, 1995.
[0026565]17153.Ozawa, M.; Muramatsu, T.: Reticulocalbin, a novel endoplasmic reticulum resident Ca2+-binding protein with multiple EF-hand motifs and a carboxyl-terminal HDEL sequence. J. Biol. Chem. 268: 699-705, 1993.
[0026566]17154.Yan, W. L.; Lerner, T. J.; Haines, J. L.; Gusella, J. F.: Sequence analysis and mapping of a novel human mitochondrial ATP synthase subunit 9 cDNA (ATP5G3). Genomics 24: 375-377, 1994.
[0026567]17155.Aho, S.; McLean, W. H. I.; Li, K.; Uitto, J.: cDNA cloning, mRNA expression, and chromosomal mapping of human and mouse periplakin genes. Genomics 48: 242-247, 1998.
[0026568]17156.Luo, G.; Leroy, E.; Kozak, C. A.; Polymeropoulos, M. H.; Horowits, R.: Mapping of the gene (NRAP) encoding N-RAP in the mouse and human genomes. Genomics 45: 229-232, 1997.
[0026569]17157.Luo, G.; Zhang, J. Q.; Nguyen, T.-P.; Herrera, A. H.; Paterson, B.; Horowits, R.: Complete cDNA sequence and tissue localization of N-RAP, a novel nebulin-related protein of striated muscle. Cell Motil. Cytoskeleton 38: 75-90, 1997.
[0026570]17158.Ando-Akatsuka, Y.; Saitou, M.; Hirase, T.; Kishi, M.; Sakakibara, A.; Itoh, M.; Yonemura, S.; Furuse, M.; Tsukita, S.: Interspecies diversity of the occludin sequence: cDNA cloning of human, mouse, dog, and rat-kangaroo homologues. J. Cell Biol. 133: 43-47, 1996.
[0026571]17159.Strahm, B.; Rittweiler, K.; Duffner, U.; Brandau, O.; Orlowska-Volk, M.; Karajannis, M. A.; zur Stadt, U.; Tiemann, M.; Reiter, A.; Brandis, M.; Meindl, A.; Niemeyer, C. M.: Recurrent B-cell non-Hodgkin's lymphoma in two brothers with X-linked lymphoproliferative disease without evidence for Epstein-Barr virus infection. Brit. J. Haemat. 108: 377-382, 2000.
[0026572]17160.Sylla, B. S.; Murphy, K.; Cahir-McFarland, E.; Lane, W. S.; Mosialos, G.; Kieff, E.: The X-linked lymphoproliferative syndrome gene product SH2D1A associates with p62(dok) (Dok1) and activates NF-kappa-beta. Proc. Nat. Acad. Sci. 97: 7470-7475, 2000.
[0026573]17161.Sylla, B. S.; Wang, Q.; Hayoz, D.; Lathrop, G. M.; Lenoir, G. M.: Multipoint linkage mapping of the Xq25-q26 region in a family affected by the X-linked lymphoproliferative syndrome. Clin. Genet. 36: 359-462, 1989.
[0026574]17162.Tangye, S. G.; Lazetic, S.; Woollatt, E.; Sutherland, G. R.; Lanier, L. L.; Phillips, J. H.: Cutting edge: human 2B4, an activating NK cell receptor, recruits the protein tyrosine phosphatase SHP-2 and the adaptor signaling protein SAP. J. Immun. 162: 6981-6985, 1999.
[0026575]17163.Tangye, S. G.; Phillips, J. H.; Lanier, L. L.; Nichols, K. E. : Cutting edge: functional requirement for SAP in 2B4-mediated activation of human natural killer cells as revealed by the X-linked lymphoproliferative syndrome. J. Immun. 165: 2932-2936, 2000.
[0026576]17164.Thorley-Lawson, D. A.; Schooley, R. T.; Bhan, A. K.; Nadler, L. M.: Epstein-Barr virus superinduces a new human B cell differentiation antigen (B-LAST 1) expressed on transformed lymphoblasts. Cell 30: 415-425, 1982.
[0026577]17165.Vowels, M. R.; Lam-Po-Tang, R.; Berdoukas, V.; Ford, D.; Thierry, D.; Purtilo, D.; Gluckman, E.: Correction of X-linked lymphoproliferative disease by transplantation of cord-blood stem cells. New Eng. J. Med. 329: 1623-1625, 1993.
[0026578]17166.Williams, L. L.; Rooney, C. M.; Conley, M. E.; Brenner, M. K.; Krance, R. A.; Heslop, H. E.: Correction of Duncan's syndrome by allogeneic bone marrow transplantation. Lancet 342: 587-588, 1993.
[0026579]17167.Wu, C.; Nguyen, K. B.; Pien, G. C.; Wang, N.; Gullo, C.; Duncan, H.; Sosa, M. R.; Edwards, M. J.; Borrow, P.; Satoskar, A. R.; Sharpe, A. H.; Biron, C. A.; Terhorst, C.: SAP controls T cell responses to virus and terminal differentiation of T(H)2 cells. Nature Immun. 2: 410-414, 2001.
[0026580]17168.Wyandt, H. E.; Skare, J. C.; Grierson, H. L.; Purtilo, D. T.; Milunsky, A.: Detection of a chromosomal deletion of Xq25 in an affected male with X-linked lymphoproliferative disease. (Abstract) Am. J. Hum. Genet. 45 (suppl.): A108 only, 1989.
[0026581]17169.Yin, L.; Ferrand, V.; Lavoue, M.-F.; Hayoz, D.; Philippe, N.; Souillet, G.; Seri, M.; Giacchino, R.; Castagnola, E.; Hodgson, S.; Sylla, B. S.; Romeo, G.: SH2D1A mutation analysis for diagnosis of XLP in typical and atypical patients. Hum. Genet. 105: 501-505, 1999.
[0026582]17170.Yin, L.; Tocco, T.; Pauly, S.; Lenoir, G. M.; Romeo, G.: Absence of SH2D1A point mutation in 62 Burkitts lymphoma cell lines. Am. J. Hum. Genet. 65 (suppl. 1868): A331 only, 1999.
[0026583]17171.Berglund, E. O.; Ranscht, B.: Molecular cloning and in situ localization of the human contactin gene (CNTN1) on chromosome 12q11-q12. Genomics 21: 571-582, 1994.
[0026584]17172.Laxminarayan, K. M.; Chan, B. K.; Tetaz, T.; Bird, P. I.; Mitchell, C. A.: Characterization of a cDNA encoding the 43-kDa membrane-associated inositol-polyphosphate 5-phosphatase. J. Biol. Chem. 269: 17305-17310, 1994.
[0026585]17173.Fink, J. K.; Jones, S. M.; Esposito, C.; Wilkowski, J.: Human microtubule-associated protein 1a (MAP1A) gene: genomic organization, cDNA sequence, and developmental-and tissue-specific expression. Genomics 35: 577-585, 1996.
[0026586]17174.Quinton, R.; Duke, V. M.; de Zoysa, P. A.; Platts, A. D.; Valentine, A.; Kendall, B.; Pickman, S.; Kirk, J. M. W.; Besser, G. M.; Jacobs, H. S.; Bouloux, P. M. G.: The neuroradiology of Kallmann's syndrome: a genotypic and phenotypic analysis. J. Clin. Endocr. Metab. 81: 3010-3017, 1996.
[0026587]17175.Rogol, A.; Mittal, K.; White, B. J.; McGinnis, M. H.; Lieblich, J. M.; Rosen, S. W.: HLA-compatible paternity in two 'fertile eunuchs' with congenital hypogonadotrophic hypogonadism and anosmia (the Kallmann syndrome). J. Clin. Endocr. Metab. 51: 275-279, 1980.
[0026588]17176.Befort, K.; Filliol, D.; Decaillot, F. M.; Gaveriaux-Ruff, C.; Hoehe, M. R; Kieffer, B. L.: A single nucleotide polymorphic mutation in the human mu-opioid receptor severely impairs receptor signaling. J. Biol. Chem. 276: 3130-3137, 2001.
[0026589]17177.Bond, C.; LaForge, K. S.; Tian, M.; Melia, D.; Zhang, S.; Borg, L.; Gong, J.; Schluger, J.; Strong, J. A.; Leal, S. M.; Tischfield, J. A.; Kreek, M. J.; Yu, L.: Single-nucleotide polymorphism in the human mu opioid receptor gene alters beta-endorphin binding and activity: possible implications for opiate addiction. Proc. Nat. Acad. Sci. 95: 9608-9613, 1998.
[0026590]17178.Chen, Y.; Mestek, A.; Liu, J.; Hurley, J. A.; Yu, L.: Molecular cloning and functional expression of a mu-opioid receptor from rat brain. Molec. Pharm. 44: 8-12, 1993.
[0026591]17179.He, L.; Fong, J.; von Zastrow, M.; Whistler, J. L.: Regulation of opioid receptor trafficking and morphine tolerance by receptor oligomerization. Cell 108: 271-282, 2002.
[0026592]17180.Hoehe, M. R.; Kopke, K.; Wendel, B.; Rohde, K.; Flachmeier, C.; Kidd, K. K.; Berrettini, W. H.; Church, G. M.: Sequence variability and candidate gene analysis in complex disease: association of mu opioid receptor gene variation with substance dependence. Hum. Molec. Genet. 9: 2895-2908, 2000.
[0026593]17181.Hollt, V.: A polymorphism (A118G) in the mu-opioid receptor gene affects the response to morphine-6-glucuronide in humans. Pharmacogenetics 12: 1-2, 2002.
[0026594]17182.LaForge, K. S.; Yuferov, V.; Kreek, M. J.: Opioid receptor and peptide gene polymorphisms: potential implications for addictions. Europ. J. Pharm. 410: 249-268, 2000.
[0026595]17183.Lotsch, J.; Skarke, C.; Grosch, S.; Darimont, J.; Schmidt, H.; Geisslinger, G.: The polymorphism A118G of the human mu-opioid receptor gene decreases the pupil constrictory effect of morphine-6-glucuronide but not that of morphine. Pharmacogenetics 12: 3-9, 2002.
[0026596]17184.Mansour, A.; Fox, C. A.; Burke, S.; Akil, H.; Watson, S. J.: Immunohistochemical localization of the clone mu opioid receptor in the rat CNS. J. Chem. Neuroanat. 8: 283-305, 1995.
[0026597]17185.Meyer, U. A.: Pharmacogenetics and adverse drug reactions. Lancet 356: 1667-1671, 2000.
[0026598]17186.Mogil, J. S.: The genetic mediation of individual differences in sensitivity to pain and its inhibition. Proc. Nat. Acad. Sci. 96: 7744-7751, 1999.
[0026599]17187.Uhl, G. R.; Sora, I.; Wang, Z.: The mu opiate receptor as a candidate gene for pain: polymorphisms, variations in expression, nociception, and opiate responses. Proc. Nat. Acad. Sci. 96: 7752-7755, 1999.
[0026600]17188.Wang, J.-B.; Johnson, P. S.; Persico, A. M.; Hawkins, A. L.; Griffin, C. A.; Uhl, G. R.: Human mu opiate receptor: cDNA and genomic clones, pharmacologic characterization and chromosomal assignment. FEBS Lett. 338: 217-222, 1994.
[0026601]17189.Wu, D.; Kang, Y.-S.; Bickel, U.; Pardridge, W. M.: Blood-brain barrier permeability to morphine-6-glucuronide is markedly reduced compared with morphine. Drug Metab. Dispos. 25: 768-771, 1997.
[0026602]17190.Zubieta, J.-K.; Smith, Y. R.; Bueller, J. A.; Xu, Y.; Kilbourn, M. R.; Jewett, D. M.; Meyer, C. R.; Koeppe, R. A.; Stohler, C. S. : Regional mu opioid receptor regulation of sensory and affective dimensions of pain. Science 293: 311-315, 2001.
[0026603]17191.McBride, O. W.; Yi, H. F.; Srivastava, M.: The human cytochrome b561 gene (CYB561) is located at 17q11-qter. Genomics 21: 662-663, 1994.
[0026604]17192.Srivastava, M.: Genomic structure and expression of the human gene encoding cytochrome b(561), an integral protein of the cromaffin granule membrane. J. Biol. Chem. 270: 22714-22720, 1995.
[0026605]17193.Albarosa, R.; DiDonato, S.; Finocchiaro, G.: Redefinition of the coding sequence of the MXI1 gene and identification of a polymorphic repeat in the 3-prime non-coding region that allows the detection of loss of heterozygosity of chromosome 10q25 in glioblastomas. Hum. Genet. 95: 709-711, 1995.
[0026606]17194.Mitchell, C. A.; Speed, C. J.; Nicholl, J.; Sutherland, G. R.: Chromosomal mapping of the gene (INPP5A) encoding the 43-kDa membrane-associated inositol polyphosphate 5-phosphatase to 10q26.3 by fluorescence in situ hybridization. Genomics 31: 139-140, 1996.
[0026607]17195.Phillips, D. R.; Agin, R. P.: Platelet membrane defects in Glanzmann's thrombasthenia: evidence for decreased amounts of two major glycoproteins. J. Clin. Invest. 60: 535-545, 1977.
[0026608]17196.Pittman, M. A., Jr.; Graham, J. B.: Glanzmann's thrombopathy: an autosomal recessive trait in one family. Am. J. Med. Sci. 247: 293-303, 1964.
[0026609]17197.Poncz, M.; Rifat, S.; Coller, B. S.; Newman, P. J.; Shattil, S. J.; Parrella, T.; Fortina, P.; Bennett, J. S.: Glanzmann thrombasthenia secondary to a gly273-to-asp mutation adjacent to the first calcium-binding domain of platelet glycoprotein IIb. J. Clin. Invest. 93: 172-179, 1994.
[0026610]17198.Prandini, M. H.; Denarier, E.; Frachet, P.; Uzan, G.; Marguerie, G.: Isolation of the human platelet glycoprotein IIb gene and characterization of the 5-prime flanking region. Biochem. Biophys. Res. Commun. 156: 595-601, 1988.
[0026611]17199.Pytela, R.; Pierschbacher, M. D.; Ginsberg, M. H.; Plow, E. F.; Ruoslahti, E.: Platelet membrane glycoprotein IIb/IIIa: member of a family of arg-gly-asp-specific adhesion receptors. Science 231: 1559-1562, 1986.
[0026612]17200.Ruan, J.; Peyruchaud, O.; Alberio, L.; Valles, G.; Clemetson, K.; Bourre, F.; Nurden, A. T.: Double heterozygosity of the GPIIb gene in a Swiss patient with Glanzmann's thrombasthenia. Brit. J. Haemat. 102: 918-925, 1998.
[0026613]17201.Russell, M. E.; Seligsohn, U.; Coller, B. S.; Ginsberg, M. H.; Skoglund, P.; Quertermous, T.: Structural integrity of the glycoprotein IIb and IIIa genes in Glanzmann thrombasthenia patients from Israel. Blood 72: 1833-1836, 1988.
[0026614]17202.Schlegel, N.; Gayet, O.; Morel-Kopp, M.-C.; Wyler, B.; Hurtaud-Roux, M.-F.; Kaplan, C.; McGregor, J.: The molecular genetic basis of Glanzmann's thrombasthenia in a gypsy population in France: identification of a new mutation on the alpha(IIb) gene. Blood 86: 977-982, 1995.
[0026615]17203.Seligsohn, U.; Mibashan, R. S.; Rodeck, C. H.; Nicolaides, K. H.; Millar, D. S.; Coller, B. S.: Prenatal diagnosis of Glanzmann's thrombasthenia. (Letter) Lancet II: 1419 only, 1985.
[0026616]17204.Sosnoski, D.; Emanuel, B. S.; Hawkins, A. L.; van Tuinen, P.; Ledbetter, D. H.; Nussbaum, R. L.; Kaos, F.-T.; Schwartz, E.; Phillips, D.; Bennett, J. S.; Fitzgerald, L. A.; Poncz, M.: Chromosomal localization of the genes for the vitronectin and fibronectin receptors alpha-subunits and for platelet glycoproteins IIb and IIIa. J. Clin. Invest. 81: 1993-1998, 1988.
[0026617]17205.Tongio, M. M.; Lutz, P.; Hauptmann, G.; Rodier, L.; Levy, J.-M.; Mayer, S.; Cazenave, J.-P.: Type I Glanzmann's thrombasthenia segregates independently of Ss and Duffy systems and the A, B, C, factor B, C2 and C4 loci of the HLA complex. Tissue Antigens 20: 22-27, 1982.
[0026618]17206.Uzan, G.; Van Cong, N.; Gross, M. S.; Jegou-Foubert, C.; Frachet, P.; Boucheix, C.; Margerie, G.; Frezal, J.: Assignment of a gene coding for human platelet GPIIb (GP2B) to 17q21.1-q21.3 by in situ hybridization. (Abstract) Cytogenet. Cell Genet. 46: 707 only, 1987.
[0026619]17207.Van Cong, N.; Uzan, G.; Gross, M. S.; Jegou-Foubert, C.; Frachet, P.; Boucheix, C.; Marguerie, G.; Frezal, J.: Assignment of human platelet GP2B (GPIIb) gene to chromosome 17, region q21.1-q21.3. Hum. Genet. 80: 389-392, 1988.
[0026620]17208.von dem Borne, A. E. G. K.; von Riesz, E.; Verheugt, F. W. A.; ten Cate, J. W.; Koppe, J. G.; Engelfriet, C. P.; Nijenhuis, L. E. : Bak(a), a new platelet-specific antigen involved in neonatal allo-immune thrombocytopenia. Vox Sang. 39: 113-120, 1980.
[0026621]17209.Waller, H. D.; Gross, R.: Genetische Enzymdefecte als Ursache von Thrombocytopathien. Verh. Dtsch. Ges. Inn. Med. 70: 476-494, 1964.
[0026622]17210.Wilcox, D. A.; Gill, J.; Newman, P. J.: Glanzmann thrombasthenia resulting from a single amino acid substitution flanking the fibrinogen gamma-chain dodecapeptide binding domain on GPIIb. (Abstract) Blood 82: 210a only, 1993.
[0026623]17211.Wilcox, D. A.; Paddock, C. M.; Lyman, S.; Gill, J. C.; Newman, P. J.: Glanzmann thrombasthenia resulting from a single amino acid substitution between the second and third calciumbinding domains of GPIIb: role of the GPIIb amino terminus in integrin subunit association. J. Clin. Invest. 95: 1553 only, 1995.
[0026624]17212.Wilcox, D. A.; Wautier, J. L.; Pidard, D.; Newman, P. J.: A single amino acid substitution flanking the fourth calcium binding domain of alpha-IIb prevents maturation of the alpha-IIbbeta-3 integrin complex. J. Biol. Chem. 269: 4450-4457, 1994.
[0026625]17213.Zaizov, R.; Cohen, I.; Matoth, Y.: Thrombasthenia: a study of two siblings. Acta Paediat. Scand. 57: 522-526, 1968.
[0026626]17214.Dreyer, B.; Tranebjaerg, L.; Rosenberg, T.; Weston, M. D.; Kimberling, W. J.; Nilssen, O.: Identification of novel USH2A mutations: implications for the structure of USH2A protein. Europ. J. Hum. Genet. 8: 500-506, 2000.
[0026627]17215.Eudy, J. D.; Weston, M. D.; Yao, S.; Hoover, D. M.; Rehm, H. L.; Ma-Edmonds, M.; Yan, D.; Ahmad, I.; Cheng, J. J.; Ayuso, C.; Cremers, C.; Davenport, S.; Moller, C.; Talmadge, C. B.; Beisel, K. W.; Tamayo, M.; Morton, C. C.; Swaroop, A.; Kimberling, W. J.; Sumegi, J.: Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. Science 280: 1753-1757, 1998.
[0026628]17216.Huang, D.; Eudy, J. D.; Uzvolgyi, E.; Davis, J. R.; Talmadge, C. B.; Pretto, D.; Weston, M. D.; Lehman, J. E.; Zhou, M.; Seemayer, T. A.; Ahmad, I.; Kimberling, W. J.; Sumegi, J.: Identification of the mouse and rat orthologs of the gene mutated in Usher syndrome type IIA and the cellular source of USH2A mRNA in retina, a target tissue of the disease. Genomics 80: 195-203, 2002.
[0026629]17217.Kimberling, W. J.; Weston, M. D.; Moller, C.; Davenport, S. L. H.; Shugart, Y. Y.; Priluck, I. A.; Martini, A.; Milani, M.; Smith, R. J.: Localization of Usher syndrome type II to chromosome 1q. Genomics 7: 245-249, 1990.
[0026630]17218.Kimberling, W. J.; Weston, M. D.; Moller, C.; van Aarem, A.; Cremers, C. W. R. J.; Sumegi, J.; Ing, P. S.; Connolly, C.; Martini, A.; Milani, M.; Tamayo, M. L.; Bernal, J.; Greenberg, J.; Ayuso, C.: Gene mapping of Usher syndrome type IIa: localization of the gene to a 2.1-cM segment on chromosome 1q41. Am. J. Hum. Genet. 56: 216-223, 1995.
[0026631]17219.Lewis, R. A.; Otterud, B.; Stauffer, D.; Lalouel, J.-M.; Leppert, M.: Mapping recessive ophthalmic diseases: linkage of the locus for Usher syndrome type II to a DNA marker on chromosome 1q. Genomics 7: 250-256, 1990.
[0026632]17220.Liu, X.-Z.; Hope, C.; Liang, C. Y.; Zou, J. M.; Xu, L. R.; Cole, T.; Mueller, R. F.; Bundey, S.; Nance, W.; Steel, K. P.; Brown, S. D. M.: A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation. (Letter) Am. J. Hum. Genet. 64: 1221-1225, 1999.
[0026633]17221.Pieke-Dahl, S.; van Aarem, A.; Dobin, A.; Cremers, C. W. R. J.; Kimberling, W. J.: Genetic heterogeneity of Usher syndrome type II in a Dutch population. J. Med. Genet. 33: 753-757, 1996.
[0026634]17222.Pieke Dahl, S.; Weston, M. D.; Kimberling, W. J.; Gorin, M. B.; Shugart, Y. Y.; Kenyon, J. B.: Possible genetic heterogeneity of Usher syndrome type 2: a family unlinked to chromosome 1q markers. (Abstract) Am. J. Hum. Genet. 49 (suppl.): 200 only, 1991.
[0026635]17223.Rivolta, C.; Sweklo, E. A.; Berson, E. L.; Dryja, T. P.: Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. Am. J. Hum. Genet. 66: 1975-1978, 2000.
[0026636]17224.Robbins, J. H.; Scudiero, D. A.; Otsuka, F.; Tarone, R. E.; Brumback, R. A.; Wirtschafter, J. D.; Polinsky, R. J.; Barrett, S. F.; Moshell, A. N.; Scarpinato, R. G.; Ganges, M. B.; Nee, L. E.; Meyer, S. A.; Clatterbuck, B. E.: Hypersensitivity to DNA-damaging agents in cultured cells from patients with Usher's syndrome and Duchenne muscular dystrophy. J. Neurol. Neurosurg. Psychiat. 47: 391-398, 1984.
[0026637]17225.Smith, R. J. H.; Lee, E. C.; Kimberling, W. J.; Daiger, S. P.; Pelias, M. Z.; Keats, B. J. B.; Jay, M.; Bird, A.; Reardon, W.; Guest, M.; Ayyagari, R.; Hejtmancik, J. F.: Localization of two genes for Usher syndrome type I to chromosome 11. Genomics 14: 995-1002, 1992.
[0026638]17226.Weston, M. D.; Eudy, J. D.; Fujita, S.; Yao, S.-F.; Usami, S.; Cremers, C.; Greenburg, J.; Ramesar, R.; Martini, A.; Moller, C.; Smith, R. J.; Sumegi, J.; Kimberling, W. J.: Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. Am. J. Hum. Genet. 66: 1199-1210, 2000. Note: Erratum: Am. J. Hum. Genet. 66: 2020 only, 2000.
[0026639]17227.Gasparini, P.; De Fazio, A.; Croce, A. I.; Stanziale, P.; Zelante, L.: Usher syndrome type III (USH3) linked to chromosome 3q in an Italian family. J. Med. Genet. 35: 666-667, 1998.
[0026640]17228.Joensuu, T.; Hamalainen, R.; Yuan, B.; Johnson, C.; Tegelberg, S.; Gasparini, P.; Zelante, L.; Pirvola, U.; Parakinen, L.; Lehesjoki, A.-E.; de la Chapelle, A.; Sankila, E.-M.: Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. Am. J. Hum. Genet. 69: 673-684, 2001. Note: Erratum: Am. J. Hum. Genet. 69: 1160 only, 2001.
[0026641]17229.Sankila, E.-M.; Pakarinen, L.; Kaariainen, H.; Aittomaki, K.; Karjalainen, S.; Sistonen, P.; de la Chapelle, A.: Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q. Hum. Molec. Genet. 4: 93-98, 1995.
[0026642]17230.Anantharaman, V.; Koonin, E. V.; Aravind, L.: Peptide-N-glycanases and DNA repair proteins, Xp-C/Rad4, are, respectively, active and inactivated enzymes sharing a common transglutaminase fold. Hum. Molec. Genet. 10: 1627-1630, 2001.
[0026643]17231.Cheo, D. L.; Burns, D. K.; Meira, L. B.; Houle, J. F.; Friedberg, E. C.: Mutational inactivation of the xeroderma pigmentosum group C gene confers predisposition to 2-acetylaminofluorene-induced liver and lung cancer and to spontaneous testicular cancer in Trp53 -/- mice. Cancer Res. 59: 771-775, 1999.
[0026644]17232.Cleaver, J. E.: DNA repair in human xeroderma pigmentosum group C cells involves a different distribution of damaged sites in confluent and growing cells. Nucleic Acids Res. 14: 8155-8165, 1986.
[0026645]17233.Emmert, S.; Kobayashi, N.; Khan, S. G.; Kraemer, K. H.: The xeroderma pigmentosum group C gene leads to selective repair of cyclobutane pyrimidine dimers rather than 6-4 photoproducts. Proc. Nat. Acad. Sci. 97: 2151-2156, 2000.
[0026646]17234.Halley, D. J. J.; Keijzer, W.; Jaspers, N. G. J.; Niermeijer, M. F.; Kleijer, W. J.; Boue, J.; Boue, A.; Bootsma, D.: Prenatal diagnosis of xeroderma pigmentosum (group C) using assays of unscheduled DNA synthesis and postreplication repair. Clin. Genet. 16: 137-146, 1979.
[0026647]17235.Hananian, J.; Cleaver, J. E.: Xeroderma pigmentosum exhibiting neurological disorders and systemic lupus erythematosus. Clin. Genet. 17: 39-45, 1980.
[0026648]17236.Kaur, G. P.; Athwal, R. S.: Identification of a DNA repair gene on human chromosome 5 that complements xeroderma pigmentosum cells of group C. (Abstract) Am. J. Hum. Genet. 51 (suppl.): A51, 1992.
[0026649]17237.Khan, S. G.; Levy, H. L.; Legerski, R.; Quackenbush, E.; Reardon, J. T.; Emmert, S.; Sancar, A.; Li, L.; Schneider, T. D.; Cleaver, J. E.; Kraemer, K. H.: Xeroderma pigmentosum group C splice mutation associated with autism and hypoglycinemia. J. Invest. Derm. 111: 791-796, 1998.
[0026650]17238.Legerski, R.; Peterson, C.: Expression cloning of a human DNA repair gene involved in xeroderma pigmentosum group C. Nature 359: 70-73, 1992.
[0026651]17239.Legerski, R. J.; Liu, P.; Li, L.; Peterson, C. A.; Zhao, Y.; Leach, R. J.; Naylor, S. L.; Siciliano, M. J.: Assignment of xeroderma pigmentosum group C (XPC) gene to chromosome 3p25. Genomics 21: 266-269, 1994.
[0026652]17240.Li, L.; Bales, E. S.; Peterson, C. A.; Legerski, R. J.: Characterization of molecular defects in xeroderma pigmentosum group C. Nature Genet. 5: 413-417, 1993.
[0026653]17241.Lynch, H. T.; Fusaro, R. M.; Johnson, J. A.: Xeroderma pigmentosum: complementation group C and malignant melanoma. Arch. Derm. 120: 175-179, 1984.
[0026654]17242.Masutani, C.; Sugasawa, K.; Yanagisawa, J.; Sonoyama, T.; Ui, M.; Enomoto, T.; Takio, K.; Tanaka, K.; van der Spek, P.; Bootsma, D.; Hoeijmakers, J. H. J.; Hanaoka, F.: Purification and cloning of a nucleotide excision repair complex involving the xeroderma pigmentosum group C protein and a human homologue of yeast RAD23. EMBO J. 13: 1831-1843, 1994.
[0026655]17243.Peterson, C.; Legerski, R.: High-frequency transformation of human repair-deficient cell lines by an Epstein-Barr virus-based cDNA expression vector. Gene 107: 279-284, 1991.
[0026656]17244.Sands, A. T.; Abuin, A.; Sanchez, A.; Conti, C. J.; Bradley, A. : High susceptibility to ultraviolet-induced carcinogenesis in mice lacking XPC. Nature 377: 162-165, 1995.
[0026657]17245.Seguin, L. R.; Tarone, R. E.; Liao, K.; Robbins, J. H.: Ultraviolet light-induced chromosomal aberrations in cultured cells from Cockayne syndrome and complementation group C xeroderma pigmentosum patients: lack of correlation with cancer susceptibility. Am. J. Hum. Genet. 42: 468-475, 1988.
[0026658]17246.Slor, H.; Batko, S.; Khan, S. G.; Sobe, T.; Emmert, S.; Khadavi, A.; Frumkin, A.; Busch, D. B.; Albert, R. B.; Kraemer, K. H.: Clinical, cellular, and molecular features of an Israeli xeroderma pigmentosum family with a frameshift mutation in the XPC gene: sun protection prolongs life. J. Invest. Derm. 115: 974-980, 2000.
[0026659]17247.Sugasawa, K.; Ng, J. M. Y.; Masutani, C.; Iwai, S.; van der Spek, P. J.; Eker, A. P. M.; Hanaoka, F.; Bootsma, D.; Hoeijmakers, J. H. J.: Xeroderma pigmentosum group C protein complex is the initiator of global genome nucleotide excision repair. Molec. Cell 2: 223-232, 1998.
[0026660]17248.Suzuki, T.; Park, H.; Hollingsworth, N. M.; Sternglanz, R.; Lennarz, W. L.: PNG1, a yeast gene encoding a highly conserved peptide:N-glycanase. J. Cell Biol. 149: 1039-1052, 2000.
[0026661]17249.Teitz, T.; Naiman, T.; Avissar, S. S.; Bar, S.; Okayama, H.; Canaani, D.: Complementation of the UV-sensitive phenotype of a xeroderma pigmentosum human cell line by transfection with a cDNA clone library. Proc. Nat. Acad. Sci. 84: 8801-8804, 1987.
[0026662]17250.van der Spek, P. J.; Smit, E. M. E.; Beverloo, H. B.; Sugasawa, K.; Masutani, C.; Hanaoka, F.; Hoeijmakers, J. H. J.; Hagemeijer, A.: Chromosomal localization of three repair genes: the xeroderma pigmentosum group C gene and two human homologs of yeast RAD23. Genomics 23: 651-658, 1994.
[0026663]17251.van der Spek, P. J.; Visser, C. E.; Hanaoka, F.; Smit, B.; Hagemeijer, A.; Bootsma, D.; Hoeijmakers, J. H. J.: Cloning, comparative mapping, and RNA expression of the mouse homologues of the Saccharomyces cerevisiae nucleotide excision repair gene RAD23. Genomics 31: 20-27, 1996.
[0026664]17252.Moser, H. W.: Personal Communication. Baltimore, Md. 6/29/1989.
[0026665]17253.Moser, H. W.: Lorenzo's Oil. (Film Review). Lancet 341: 544, 1993.
[0026666]17254.Moser, H. W.: Personal Communication. Baltimore, Md. 1980.
[0026667]17255.Moser, H. W.: Personal Communication. Baltimore, Md. 10/13/1987.
[0026668]17256.Moser, H. W.; Kok, F.; Neumann, S.; Borel, J.; Bergin, A.; Mostafa, S. D.; Panoscha, R.; Davoli, C. T.; Shankroff, J.; Smith, K. D.: Adrenoleukodystrophy update: genetics and effect of Lorenzo's oil therapy in asymptomatic patients. Int. Pediat. 9: 196-204, 1994.
[0026669]17257.Moser, H. W.; Moser, A. B.; Frayer, K. K.; Chen, W.; Schulman, J. D.; O'Neill, B. P.; Kishimoto, Y.: Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids. Neurology 31: 1241-1249, 1981.
[0026670]17258.Moser, H. W.; Moser, A. B.; Kawamura, N.; Murphy, J.; Suzuki, K.; Schaumburg, H.; Kishimoto, Y.: Adrenoleukodystrophy: elevated C26 fatty acid in cultured skin fibroblasts. Ann. Neurol. 7: 542-549, 1980.
[0026671]17259.Moser, H. W.; Moser, A. B.; Naidu, S.; Bergin, A.: Clinical aspects of adrenoleukodystrophy and adrenomyeloneuropathy. Dev. Neurosci. 13: 254-261, 1991.
[0026672]17260.Moser, H. W.; Moser, A. E.; Singh, I.; O'Neill, B. P.: Adrenoleukodystrophy: survey of 303 cases: biochemistry, diagnosis, and therapy. Ann. Neurol. 16: 628-641, 1984.
[0026673]17261.Moser, H. W.; Smith, K. D.; Moser, A. B.: X-linked adrenoleukodystrophy.In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds): The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill 1995. Pp. 2325-2349.
[0026674]17262.Moser, H. W.; Tutschka, P. J.; Brown, F. R., III; Moser, A. E.; Yeager, A. M.; Singh, I.; Mark, S. A.; Kumar, A. A. J.; McDonnell, J. M.; White, C. L., III; Maumenee, I. H.; Green, W. R.; Powers, J. M.; Santos, G. W.: Bone marrow transplant in adrenoleukodystrophy. Neurology 34: 1410-1417, 1984.
[0026675]17263.Mosser, J.; Douar, A.-M.; Sarde, C.-O.; Kioschis, P.; Feil, R.; Moser, H.; Poustka, A.-M.; Mandel, J.-L.; Aubourg, P.: Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Nature 361: 726-730, 1993.
[0026676]17264.Mosser, J.; Lutz, Y.; Stoeckel, M. E.; Sarde, C. O.; Kretz, C.; Douar, A. M.; Lopez, J.; Aubourg, P.; Mandel, J. L.: The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein. Hum. Molec. Genet. 3: 265-271, 1994.
[0026677]17265.Naidu, S.; Bresnan, M. J.; Griffin, D.; O'Toole, S.; Moser, H. W.: Childhood adrenoleukodystrophy: failure of intensive immunosuppression to arrest neurologic progression. Arch. Neurol. 45: 846-848, 1988.
[0026678]17266.Netik, A.; Forss-Petter, S.; Holzinger, A.; Molzer, B.; Unterrainer, G.; Berger, J.: Adrenoleukodystrophy-related protein can compensate functionally for adrenoleukodystrophy protein deficiency (X-ALD): implications for therapy. Hum. Molec. Genet. 8: 907-913, 1999.
[0026679]17267.Noetzel, M. J.; Landau, W. M.; Moser, H. W.: Adrenoleukodystrophy carrier state presenting as a chronic nonprogressive spinal cord disorder. Arch. Neurol. 44: 566-567, 1987.
[0026680]17268.O'Neill, B. P.; Marmion, L. C.; Feringa, E. R.: The adrenoleukomyeloneuropathy complex: expression in four generations. Neurology 31: 151-156, 1981.
[0026681]17269.O'Neill, B. P.; Moser, H. W.; Marmion, L. C.: Adrenoleukodystrophy: elevated C26 fatty acid in cultured skin fibroblasts and correlation with disease expression in three generations of a kindred. Neurology 32: 540-542, 1982.
[0026682]17270.O'Neill, B. P.; Moser, H. W.; Marmion, L. C.: The adrenoleukomyeloneuropathy (ALMN) complex: elevated C26 fatty acid in cultured skin fibroblasts and correlation with disease expression in three generations of a kindred. (Abstract) Neurology 30: 352 only, 1980.
[0026683]17271.O'Neill, B. P.; Moser, H. W.; Saxena, K. M.: Familial X-linked Addison disease as an expression of adrenoleukodystrophy (ALD): elevated C26 fatty acid in cultured skin fibroblasts. Neurology 32: 543-547, 1982.
[0026684]17272.O'Neill, B. P.; Swanson, J. W.; Brown, F. R., III; Griffin, J. W.; Moser, H. W.: Familial spastic paraparesis: an adrenoleukodystrophy phenotype? Neurology 35: 1233-1235, 1985.
[0026685]17273.Peckham, R. S.; Marshall, M. C., Jr.; Rosman, P. M.; Farag, A.; Kabadi, U.; Wallace, E. Z.: A variant of adrenomyeloneuropathy with hypothalamic-pituitary dysfunction and neurologic remission after glucocorticoid replacement therapy. Am. J. Med. 72: 173-176, 1982.
[0026686]17274.Penman, R. W. B.: Addison's disease in association with spastic paraplegia. Brit. Med. J. 1: 402, 1960.
[0026687]17275.Poulos, A.; Gibson, R.; Sharp, P.; Beckman, K.; Grattan-Smith, P.: Very long chain fatty acids in X-linked adrenoleukodystrophy brain after treatment with Lorenzo's oil. Ann. Neurol. 36: 741-746, 1994. 100. Powers, J. M.; Schaumburg, H. H.: The testis in adreno-leukodystrophy. Am. J. Path. 102: 90-98, 1981. 101. Powers, J. M.; Schaumburg, H. H.: A fatal cause of sexual inadequacy in men: adreno-leukodystrophy. J. Urol. 124: 583-585, 1980. 102. Powers, J. M.; Schaumburg, H. H.: Adrenoleukodystrophy (sex-linked Schilder's disease): a pathogenic hypothesis based on ultrastructural lesions in adrenal cortex, peripheral nerve and testis. Am. J. Path. 76: 481-500, 1974. 103. Powers, J. M.; Schaumburg, H. H.; Gaffney, C. L.: Kluver-Bucy syndrome caused by adreno-leukodystrophy. Neurology 30: 1131-1132, 1980. 104. Probst, A.; Ulrich, J.; Heitz, P. U.; Herschkowitz, N.: Adrenomyeloneuropathy: a protracted, pseudosystematic variant of adrenoleukodystrophy. Acta Neuropath. 49: 105-115, 1980. 105. Restuccia, D.; Di Lazzaro, V.; Valeriani, M.; Oliviero, A.; Le Pera, D.; Barba, C.; Cappa, M.; Bertini, E.; Di Capua, M.; Tonali, P.: Neurophysiologic follow-up of long-term dietary treatment in adult-onset adrenoleukodystrophy. Neurology 52: 810-816, 1999. 106. Ropers, H.-H.; Burmeister, P.; von Petrykowski, W.; Schindera, F.: Leukodystrophy, skin hyperpigmentation, and adrenal atrophy: Siemerling-Creutzfeldt disease: transmission through several generations in two families. Am. J. Hum. Genet. 27: 547-553, 1975. 107. Ropers, H.-H.; Zimmermann, J.; Wienker, T.: Adrenoleukodystrophy (Siemerling-Creutzfeldt disease): heterozygote with two clonal fibroblast populations. Clin. Genet. 11: 114-118, 1977. 108. Rosen, N. L.; Lechtenberg, R.; Wisniewski, K.; Pullarkat, R.; Bennett, H. S.: Adrenoleukomyeloneuropathy with onset in early childhood. Ann. Neurol. 17: 311-312, 1985. 109. Ruiz, M.; Coll, M. J.; Pampols, T.; Giros, M.: X-linked adrenoleukodystrophy: phenotype distribution and expression of ALDP in Spanish kindreds. Am. J. Med. Genet. 76: 424-427, 1998. 110. Sack, G. H., Jr.; Alpern, M.; Webster, T.; Feil, R. P.; Morrell, J. C.; Chen, G.; Chen, W.; Caskey, C. T.; Moser, H. W.: Chromosomal rearrangement segregating with adrenoleukodystrophy: a molecular analysis. Proc. Nat. Acad. Sci. 90: 9489-9493, 1993. 111. Sack, G. H., Jr.; Morrell, J. C.: Adrenoleukodystrophy: overlapping deletions point to a gene location in Xq28. Biochem. Biophys. Res. Commun. 191: 955-960, 1993. 112. Sack, G. H., Jr.; Raven, M. B.; Moser, H. W.: Color vision defects in adrenomyeloneuropathy. Am. J. Hum. Genet. 44: 794-798, 1989. 113. Sadeghi-Nejad, A.; Senior, B.: Adrenomyeloneuropathy presenting as Addison's disease in childhood. New Eng. J. Med. 322: 13-16, 1990. 114. Sarde, C.-O.; Mosser, J.; Kioschis, P.; Kretz, C.; Vicaire, S.; Aubourg, P.; Poustka, A.; Mandel, J.-L.: Genomic organization of the adrenoleukodystrophy gene. Genomics 22: 13-20, 1994. 115. Sarde, C.-O.; Thomas, J.; Sadoulet, H.; Garnier, J.-M.; Mandel, J.-L.: cDNA sequence of Aldgh, the mouse homolog of the X-linked adrenoleukodystrophy gene. Mammalian Genome 5: 810-813, 1994. 116. Schaumburg, H. H.; Powers, J. M.; Raine, C. S.; Spencer, P. S.; Griffin, J. W.; Prineas, J. W.; Boehme, D. M.: Adrenomyeloneuropathy: a probable variant of adrenoleukodystrophy. II. General pathologic, neuropathologic, and biochemical aspects. Neurology 27: 1114-1119, 1977. 117. Schaumburg, H. H.; Powers, J. M.; Raine, C. S.; Suzuki, K.; Richardson, E. P., Jr.: Adrenoleukodystrophy: a clinical and pathological study of 17 cases. Arch. Neurol. 32: 577-591, 1975. 118. Schaumburg, H. H.; Richardson, E. P., Jr.; Johnson, P. C.; Cohen, R. B.; Powers, J. M.; Raine, C. S.: Schilder's disease: sex-linked recessive transmission with specific adrenal changes. Arch. Neurol. 27: 458-460, 1972. 119. Schilder, P.: Zur Frage der Encephalitis Periaxialis Diffusa (Sogenannte Diffuse Sklerose). Z. ges Neurol. Psychiat. 15: 359-376, 1913. 120. Seneca, S.; Lissens, W.: DNA diagnosis of X-linked adrenoleukodystrophy. J. Inherit. Metab. Dis. 18 (suppl. 1): 34-44, 1995. 121. Shani, N.; Watkins, P. A.; Valle, D.: PXA1, a possible Saccharomyces cerevisiae ortholog of the human adrenoleukodystrophy gene. Proc. Nat. Acad. Sci. 92: 6012-6016, 1995. 122. Siemerling, E.; Creutzfeldt, H. G.: Bronzekrankheit und sklerosierende Encephalomyelitis. Arch. Psychiat. Nervkrankh. 68: 217-244, 1923. 123. Singh, I.; Lazo, O.; Contreras, M.; Hashmi, M.; Stanley, W. S. : Peroxisomal lignoceroyl-CoA ligase deficiency in X-linked adrenoleukodystrophy. (Abstract) Am. J. Hum. Genet. 43: A16, 1988. 124. Sobue, G.; Ueno-Natsukari, I.; Okamoto, H.; Connell, T. A.; Aizawa, I.; Mizoguchi, K.; Honma, M.; Ishikawa, G.; Mitsuma, T.; Natsukari, N.: Phenotypic heterogeneity of an adult form of adrenoleukodystrophy in monozygotic twins. Ann. Neurol. 36: 912-915, 1994. 125. Spira, T. J.; Adam, A.; Goodman, R. M.; Berger, A.: Recombination between cerebral sclerosis--Addison's disease and the Xg blood-groups. (Letter) Lancet II: 820-821, 1971. 126. Takano, H.; Koike, R.; Onodera, O.; Sasaki, R.; Tsuji, S.: Mutational analysis and genotype-phenotype correlation of 29 unrelated Japanese patients with X-linked adrenoleukodystrophy. Arch. Neurol. 56: 295-300, 1999. 127. Turkington, R. W.; Stempfel, R. S., Jr.: Adrenocortical atrophy and diffuse cerebral sclerosis (Addison-Schilder's disease). J. Pediat. 69: 406-412, 1966. 128. Ulrich, J.; Herschkowitz, N.; Heitz, P.; Sigrist, T. H.; Baerlocher, P.: Adrenoleukodystrophy: preliminary report of a connatal case; light- and electronmicroscopical, immunohistochemical and biochemical findings. Acta Neuropath. 43: 77-83, 1978. 129. Unterrainer, G.; Molzer, B.; Forss-Petter, S.; Berger, J.: Co-expression of mutated and normal adrenoleukodystrophy protein reduces protein function: implications for gene therapy of X-linked adrenoleukodystrophy. Hum. Molec. Genet. 9: 2609-2616, 2000. 130. Uyama, E.; Iwagoe, H.; Maeda, J.; Nakamura, M.; Terasaki, T.; Ando, M.: Presenile-onset cerebral adrenoleukodystrophy presenting as Balint's syndrome and dementia. Neurology 43: 1249-1251, 1993. 131. Valle, D.; Gartner, J.: Penetrating the peroxisome. Nature 361: 682-683, 1993. 132. van den Bosch, H.; Schutgens, R. B. H.; Wanders, R. J. A.; Tager, J. M.: Biochemistry of peroxisomes. Annu. Rev. Biochem. 61: 157-197, 1992. 133. van Geel, B. M.; Assies, J.; Weverling, G. J.; Barth, P. G.: Predominance of the adrenomyeloneuropathy phenotype of X-linked adrenoleukodystrophy in the Netherlands: a survey of 30 kindreds. Neurology 44: 2343-2346, 1994. 134. van Oost, B. A.; van Zandvoort, P.; Hoogeboom, A.; Bakkeren, J.; Hamel, B.; Brunner, H.; Knoers, N.; Ropers, H. H.: Tight linkage between adrenoleukodystrophy and DXS 52. (Abstract) Cytogenet. Cell Genet. 46: 708 only, 1987. 135. van Oost, B. A.; van Zandvoort, P. M.; Tunte, W.; Brunner, H. G.; Hoogeboom, A. J. M.; Maaswinkel-Mooy, P. D.; Bakkeren, J.; Hamel, B.; Ropers, H. H.: Linkage analysis in X-linked adrenoleukodystrophy and application in post- and prenatal diagnosis. Hum. Genet. 86: 404-407, 1991. 136. Walsh, P. J.: Adrenoleukodystrophy: report of two cases with relapsing and remitting courses. Arch. Neurol. 37: 448-450, 1980. 137. Wanders, R. J. A.; van Roermund, C. W. T.; van Wijland, M. J. A.; Nijenhuis, A. A.; Tromp, A.; Schutgens, R. B. H.; Brouwer-Kelder, E. M.; Schram, A. W.; Tager, J. M.; van den Bosch, H.; Schalkwijk, C.: X-linked adrenoleukodystrophy: defective peroxisomal oxidation of very long chain fatty acids but not of very long chain fatty acyl-CoA esters. Clin. Chim. Acta 165: 321-329, 1987. 138. Wanders, R. J. A.; van Roermund, C. W. T.; van Wijland, M. J. A.; Schutgens, R. B. H.; Heikoop, J.; van den Bosch, H.; Schram, A. W.; Tager, J. M.: Peroxisomal fatty acid beta-oxidation in relation to the accumulation of very long chain fatty acids in cultured skin fibroblasts from patients with Zellweger syndrome and other peroxisomal disorders. J. Clin. Invest. 80: 1778-1783, 1987. 139. Wanders, R. J. A.; van Roermund, C. W. T.; van Wijland, M. J. A.; Schutgens, R. B. H.; van den Bosch, H.; Schram, A. W.; Tager, J. M.: Direct demonstration that the deficient oxidation of very long chain fatty acids in X-linked adrenoleukodystrophy is due to an impaired ability of peroxisomes to activate very long chain fatty acids. Biochem. Biophys. Res. Commun. 153: 618-624, 1988. 140. Watkiss, E.; Webb, T.; Bundey, S.: Is skewed X inactivation responsible for symptoms in female carriers for adrenoleucodystrophy? J. Med. Genet. 30: 651-654, 1993. 141. Wilichowski, E.; Ohlenbusch, A.; Korenke, G. C.; et al.: Identical mitochondrial DNA in monozygotic twins with discordant adrenoleukodystrophy phenotype. Ann. Neurol. 43: 835-836, 1998. 142. Willems, P. J.; Vits, L.; Wanders, R. J. A.; Coucke, P. J.; Van der Auwera, B. J.; Van Elsen, A. F.; Raeymaekers, P.; Van Broeckhoven, C.; Schutgens, R. B. H.; Dacremont, G.; Leroy, J. G.; Martin, J.-J.; Dumon, J. E.: Linkage of DNA markers at Xq28 to adrenoleukodystrophy and adrenomyeloneuropathy present within the same family. Arch. Neurol. 47: 665-669, 1990. 143. Wray, S. H.; Cogan, D. G.; Kuwabara, T.; Schaumburg, H. H.; Powers, J. M.: Adrenoleukodystrophy with disease of the eye and optic nerve. Am. J. Ophthal. 82: 480-485, 1976.
[0026688]17276.Dinulos, M. B.; Bassi, M. T.; Rugarli, E. I.; Chapman, V.; Ballabio, A.; Disteche, C. M.: A new region of conservation is defined between human and mouse X chromosomes. Genomics 35: 244-247, 1996.
[0026689]17277.Schiaffino, M. V.; Bassi, M. T.; Rugarli, E. I.; Renieri, A.; Galli, L.; Ballabio, A.: Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region. Hum. Molec. Genet. 4: 373-382, 1995.
[0026690]17278.Bachner, D.; Sedlacek, Z.; Korn, B.; Hameister, H.; Poustka, A. : Expression patterns of two human genes coding for different rab GDP-dissociation inhibitors (GDIs), extremely conserved proteins involved in cellular transport. Hum. Molec. Genet. 4: 701-708, 1995.
[0026691]17279.Black, G. C. M.; Perveen, R.; Bonshek, R.; Cahill, M.; Clayton-Smith, J.; Lloyd, I. C.; McLeod, D.: Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis. Hum. Molec. Genet. 8: 2031-2035, 1999.
[0026692]17280.Walpole, S. M.; Hiriyana, K. T.; Nicolaou, A.; Bingham, E. L.; Durham, J.; Vaudin, M.; Ross, M. T.; Yates, J. R. W.; Sieving, P. A.; Trump, D.: Identification and characterization of the human homologue (RAI2) of a mouse retinoic acid-induced gene in Xp22. Genomics 55: 275-283, 1999.
[0026693]17281.Mao, M.; Fu, G.; Wu, J.-S.; Zhang, Q.-H.; Zhou, J.; Kan, L.-X.; Huang, Q.-H.; He, K.-L.; Gu, B.-W.; Han, Z.-G.; Shen, Y.; Gu, J.; Yu, Y.-P.; Xu, S.-H.; Wang, Y.-X.; Chen, S.-J.; Chen, Z.: Identification of genes expressed in human CD34+ hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning. Proc. Nat. Acad. Sci. 95: 8175-8180, 1998.
[0026694]17282.Pearce, W. G.; Sanger, R.; Race, R. R.: Ocular albinism and Xg. Lancet I: 1282-1283, 1968.
[0026695]17283.Rosenberg, T.; Schwartz, M.: X-linked ocular albinism: prevalence and mutations--a national study. Europ. J. Hum. Genet. 6: 570-577, 1998.
[0026696]17284.Schiaffino, M. V.; Bassi, M. T.; Galli, L.; Renieri, A.; Bruttini, M.; De Nigris, F.; Bergen, A. A. B.; Charles, S. J.; Yates, J. R. W., Meindl, A.; Lewis, R. A.; King, R. A.; Ballabio, A.: Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism. Hum. Molec. Genet. 4: 2319-2325, 1995.
[0026697]17285.Schiaffino, M. V.; d'Addio, M.; Alloni, A.; Baschirotto, C.; Valetti, C.; Cortese, K.; Puri, C.; Bassi, M. T.; Colla, C.; De Luca, M.; Tacchetti, C.; Ballabio, A.: Ocular albinism: evidence for a defect in an intracellular signal transduction system. Nature Genet. 23: 108-112, 1999.
[0026698]17286.Schnur, R. E.; Gao, M.; Wick, P. A.; Keller, M.; Benke, P. J.; Edwards, M. J.; Grix, A. W.; Hockey, A.; Jung, J. H.; Kidd, K. K.; Kistenmacher, M.; Levin, A. V.; and 11 others: OA1 mutations and deletions in X-linked ocular albinism. Am. J. Hum. Genet. 62: 800-809, 1998.
[0026699]17287.Schnur, R. E.; Trask, B. J.; van den Engh, G.; Punnett, H. H.; Kistenmacher, M.; Tomeo, M. A.; Naids, R. E.; Nussbaum, R. L.: An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry. Am. J. Hum. Genet. 45: 706-720, 1989.
[0026700]17288.Schnur, R. E.; Wick, P. A.; Bailey, C.; Rebbeck, T.; Weleber, R. G.; Wagstaff, J.; Grix, A. W.; Pagon, R. A.; Hockey, A.; Edwards, M. J.: Phenotypic variability in X-linked ocular albinism: relationship to linkage genotypes. Am. J. Hum. Genet. 55: 484-496, 1994.
[0026701]17289.Vogt, A.: Die Iris: Albinismus solum bulbi. Atlas Spalt-Lampen-Mikroskopie (pub.) (3rd ed.): 1942.
[0026702]17290.Waardenburg, P. J.; Van den Bosch, J.: X-chromosomal ocular albinism in Dutch family. Ann. Hum. Genet. 21: 101-122, 1956.
[0026703]17291.Zhang, Y.; McMahon, R.; Charles, S. J.; Green, J. S.; Moore, A. T.; Barton, D. E.; Yates, J. R. W.: Genetic mapping of the Kallmann syndrome and X linked ocular albinism gene loci. J. Med. Genet. 30: 923-925, 1993.
[0026704]17292.Barth, P. G.; Van Wijngaarden, G. K.; Bethlem, J.: X-linked myotubular myopathy with fatal neonatal asphyxia. Neurology 25: 531-536, 1975.
[0026705]17293.Blondeau, F.; Laporte, J.; Bodin, S.; Superti-Furga, G.; Payrastre, B.; Mandel, J.-L.: Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway. Hum. Molec. Genet. 9: 2223-2229, 2000.
[0026706]17294.Braga, S. E.; Gerber, A.; Meier, C.; Weiersmuller, A.; Zimmermann, A.; Herrmann, U.; Liechti, S.; Moser, H.: Severe neonatal asphyxia due to X-linked centronuclear myopathy. Europ. J. Pediat. 150: 132-135, 1990.
[0026707]17295.Breningstall, G. N.; Grover, W. D.; Marks, H. G.: Maternal muscle biopsy in X-linked recessive centronuclear (myotubular) myopathy. Am. J. Med. Genet. 39: 13-18, 1991.
[0026708]17296.Verga, V.; Hall, B. K.; Wang, S.; Johnson, S.; Higgins, J. V.; Glover, T. W.: Localization of the translocation breakpoint in a female with Menkes syndrome to Xq13.2-q13.3 proximal to PGK-1. Am. J. Hum. Genet. 48: 1133-1138, 1991.
[0026709]17297.Seltzer, W. K.; Firminger, H.; Klein, J.; Pike, A.; Fennessey, P.; McCabe, E. R. B.: Adrenal dysfunction in glycerol kinase deficiency. Biochem. Med. 33: 189-199, 1985.
[0026710]17298.Cianfriglia, M.; Miggiano, V. C.; Meo, T.; Muller, H. J.; Muller, E.; Battistuzzi, G.: Evidence for synteny between the rabbit gene loci coding for HPRT, PGK and G6PD in mouse-rabbit somatic cell hybrids. (Abstract) Cytogenet. Cell Genet. 25: 142, 1979.
[0026711]17299.Goss, S. J.; Harris, H.: Gene transfer by means of cell fusion. I. Statistical mapping of the human X-chromosome by analysis of radiation-induced gene segregation. J. Cell Sci. 25: 17-37, 1977.
[0026712]17300.Gill, P.; Ivanov, P. L.; Kimpton, C.; Piercy, R.; Benson, N.; Tully, G.; Evett, I.; Hagelberg, E.; Sullivan, K.: Identification of the remains of the Romanov family by DNA analysis. Nature Genet. 6: 130-135, 1994.
[0026713]17301.Gitschier, J.: Maternal duplication associated with gene deletion in sporadic hemophilia. Am. J. Hum. Genet. 43: 274-279, 1988.
[0026714]17302.Gitschier, J.; Drayna, D.; Tuddenham, E. G. D.; White, R. L.; Lawn, R. M.: Genetic mapping and diagnosis of haemophilia A achieved through a BclI polymorphism in the factor VIII gene. Nature 314: 738-740, 1985.
[0026715]17303.Gitschier, J.; Wood, W. I.; Shuman, M. A.; Lawn, R. M.: Identification of a missense mutation in the factor VIII gene of a mild hemophiliac. Science 232: 1415-1416, 1986.
[0026716]17304.Gitschier, J.; Wood, W. I.; Tuddenham, E. G. D.; Shuman, M. A.; Goralka, T. M.; Chen, E. Y.; Lawn, R. M.: Detection and sequence of mutations in the factor VIII gene of haemophiliacs. Nature 315: 427-430, 1985.
[0026717]17305.Graham, J. B.; Green, P. P.; McGraw, R. A.; Davis, L. M.: Application of molecular genetics to prenatal diagnosis and carrier detection in the hemophilias: some limitations. Blood 66: 759-764, 1985.
[0026718]17306.Graham, J. B.; McLendon, W. W.; Brinkhous, K. M.: Mild hemophilia: an allelic form of the disease. Am. J. Med. Sci. 225: 46-53, 1953.
[0026719]17307.Green, P. M.; Montandon, A. J.; Bentley, D. R.; Giannelli, F. : Genetics and molecular biology of haemophilias A and B. Blood Coagul. Fibrinolysis 2: 539-565, 1991.
[0026720]17308.Grover, H.; Phillips, M. A.; Lillicrap, D. P.; Giles, A. R.; Garvey, M. B.; Teitel, J.; Rivard, G.; Blanchette, V.; White, B. N.; Holden, J. J. A.: Carrier deletion of haemophilia A using DNA markers in families with an isolated affected male. Clin. Genet. 32: 10-19, 1987.
[0026721]17309.Grozdea, J.; Colombies, P.; Bierme, R.; Ducos, J.: Myeloperoxidases and genetics of haemophilia A. (Letter) Lancet II: 220 only, 1969.
[0026722]17310.Haldane, J. B. S.; Smith, C. A. B.: A new estimate of the linkage between the genes for colour-blindness and haemophilia in man. Ann. Eugen. 14: 10-31, 1947.
[0026723]17311.Harper, K.; Winter, R. M.; Pembrey, M. E.; Hartley, D.; Davies, K. E.; Tuddenham, E. G. D.: A clinically useful DNA probe closely linked to haemophilia A. Lancet II: 6-8, 1984.
[0026724]17312.Hemker, H. C.; Muller, A. D.; Hermens, W. T.; Zwaal, R. F. A. : Oral treatment of hemophilia A by gastrointestinal absorption of factor VIII entrapped in liposomes. Lancet I: 70-71, 1980.
[0026725]17313.Hermann, J.: Der Einfluss des Zeugungsalters auf die Mutationen zu Haemophilie A. Humangenetik 3: 1-16, 1966.
[0026726]17314.Higuchi, M.; Antonarakis, S. E.; Kasch, L.; Oldenburg, J.; Economou-Petersen, E.; Olek, K.; Arai, M.; Inaba, H.; Kazazian, H. H., Jr.: Molecular characterization of mild-to-moderate hemophilia A: detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis. Proc. Nat. Acad. Sci. 88: 8307-8311, 1991.
[0026727]17315.Higuchi, M.; Kazazian, H. H., Jr.; Kasch, L.; Warren, T. C.; McGinniss, M. J.; Phillips, J. A., III; Kasper, C., III; Janco, R.; Antonarakis, S. E.: Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene. Proc. Nat. Acad. Sci. 88: 7405-7409, 1991.
[0026728]17316.Higuchi, M.; Kochhan, L.; Olek, K.: A somatic mosaic for haemophilia A detected at the DNA level. Molec. Biol. Med. 5: 23-27, 1988.
[0026729]17317.Higuchi, M.; Kochhan, L.; Schwaab, R.; Egli, H.; Brackmann, H. H.; Horst, J.; Olek, K.: Molecular defects in hemophilia A: identification and characterization of mutations in the factor VIII gene and family analysis. Blood 74: 1045-1051, 1989.
[0026730]17318.Higuchi, M.; Wong, C.; Kochhan, L.; Olek, K.; Aronis, S.; Kasper, C. K.; Kazazian, H. H., Jr.; Antonarakis, S. E.: Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA. Genomics 6: 65-71, 1990.
[0026731]17319.Howard, P. L.; Hoag, J. B.; Bovill, E. G.; Heintz, N. H.: Spontaneous mutation in the male gamete as a cause of hemophilia A: clarification of a case using DNA probes. Am. J. Hemat. 28: 167-169, 1988.
[0026732]17320.Hoyer, L. W.; Breckenridge, R. T.: Two forms of haemophilia? (Letter) Lancet II: 457 only, 1968.
[0026733]17321.Inaba, H.; Fujimaki, M.; Kazazian, H. H., Jr.; Antonarakis, S. E.: Mild hemophilia A resulting from arg-to-leu substitution in exon 26 of the factor VIII gene. Hum. Genet. 81: 335-338, 1989.
[0026734]17322.Ivanov, P. L.; Wadhams, M. J.; Roby, R. K.; Holland, M. M.; Weedn, V. W.; Parsons, T. J.: Mitochondrial DNA sequence heteroplasmy in the Grand Duke of Russia Georgij Romanov establishes the authenticity of the remains of Tsar Nicholas II. Nature Genet. 12: 417-420, 1996.
[0026735]17323.Jaffe, E. A.; Nachman, R. L.: Subunit structure of factor VIII antigen synthesized by cultured human endothelial cells. J. Clin. Invest. 56: 698-702, 1975.
[0026736]17324.Janco, R. L.; Phillips, J. A., III; Orlando, P. J.; Woodard, M. J.; Wion, K. L.; Lawn, R. M.: Detection of hemophilia A carriers using intragenic factor VIII:C DNA polymorphisms. Blood 69: 1539-1541, 1987.
[0026737]17325.Johnson, D. J.; Pemberton, S.; Acquila, M.; Mori, P. G.; Tuddenham, E. G.; O'Brien, D. P.: Factor VIII S373L: mutation at P1' site confers thrombin cleavage resistance, causing mild haemophilia A. Thromb. Haemost. 71: 428-433, 1994.
[0026738]17326.Jonsdottir, S.; Diamond, C.; Levinson, B.; Magnusson, S.; Jensson, O.; Gitschier, J.: Missense mutations causing mild hemophilia A in Iceland detected by denaturing gradient gel electrophoresis. Hum. Mutat. 1: 506-508, 1992.
[0026739]17327.Holterhus, P. M.; Sinnecker, G. H. G.; Wollmann, H. A.; Struve, D.; Homburg, N.; Kruse, K.; Hiort, O.: Expression of two functionally different androgen receptors in a patient with androgen insensitivity. Europ. J. Pediat. 158: 702-706, 1999.
[0026740]17328.Shimmin, L. C.; Chang, B.-H.; Li, W.-H.: Male-driven evolution of DNA sequences. Nature 362: 745-747, 1993.
[0026741]17329.Warburg, M.: Personal Communication. Copenhagen, Denmark 1966.
[0026742]17330.Imasaki, K.; Okabe, T.; Murakami, H.; Tanaka, Y.; Haji, M.; Takayanagi, R.; Nawata, H.: Androgen insensitivity syndrome due to new mutations in the DNA-binding domain of the androgen receptor. Molec. Cell. Endocr. 120: 15-24, 1996.
[0026743]17331.Jakubiczka, S.; Nedel, S.; Werder, E. A.; Schleiermacher, E.; Theile, U.; Wolff, G.; Wieacker, P.: Mutations of the androgen receptor gene in patients with complete androgen insensitivity. Hum. Mutat. 9: 57-61, 1997.
[0026744]17332.Kang, H.-Y.; Yeh, S.; Fujimoto, N.; Chang, C.: Cloning and characterization of human prostate coactivator ARA54, a novel protein that associates with the androgen receptor. J. Biol. Chem. 274: 8570-8576, 1999.
[0026745]17333.Kazemi-Esfarjani, P.; Beitel, L. K.; Trifiro, M.; Kaufman, M.; Rennie, P.; Sheppard, P.; Matusik, R.; Pinsky, L.: Substitution of valine-865 by methionine or leucine in the human androgen receptor causes complete or partial androgen insensitivity, respectively with distinct androgen receptor phenotypes. Molec. Endocr. 7: 37-46, 1993.
[0026746]17334.Kittles, R. A.; Young, D.; Weinrich, S.; Hudson, J.; Argyropoulos, G.; Ukoli, F.; Adams-Campbell, L.; Dunston, G. M.: Extent of linkage disequilibrium between the androgen receptor gene CAG and GGC repeats in human populations: implications for prostate cancer risk. Hum. Genet. 109: 253-261, 2001.
[0026747]17335.Klocker, H.; Kaspar, F.; Eberle, J.; Uberreiter, S.; Radmayr, C.; Bartsch, G.: Point mutation in the DNA binding domain of the androgen receptor in two families with Reifenstein syndrome. Am. J. Med. Genet. 50: 1318-1327, 1992.
[0026748]17336.Knoke, I.; Allera, A.; Wieacker, P.: Significance of the CAG repeat length in the androgen receptor gene (AR) for the transactivation function of an M780I mutant AR. Hum. Genet. 104: 257-261, 1999.
[0026749]17337.Kobayashi, Y.; Miwa, S.; Merry, D. E.; Kume, A.; Mei, L.; Doyu, M.; Sobue, G.: Caspase-3 cleaves the expanded androgen receptor protein of spinal and bulbar muscular atrophy in a polyglutamine repeat length-dependent manner. Biochem. Biophys. Res. Commun. 252: 145-150, 1998.
[0026750]17338.Koivisto, P. A.; Schleutker, J.; Helin, H.; Ehren-van Eekelen, C.; Kallioniemi, O.-P.; Trapman, J.: Androgen receptor gene alterations and chromosomal gains and losses in prostate carcinomas appearing during finasteride treatment for benign prostatic hyperplasia. Clin. Cancer Res. 5: 3578-3582, 1999.
[0026751]17339.Kooy, R. F.; Reyniers, E.; Storm, K.; Vits, L.; van Velzen, D.; de Ruiter, P. E.; Brinkmann, A. O.; de Paepe, A.; Willems, P. J.: CAG repeat contraction in the androgen receptor gene in three brothers with mental retardation. Am. J. Med. Genet. 85: 209-213, 1999.
[0026752]17340.La Spada, A.; Fischbeck, K. H.: Androgen receptor gene defect in X-linked spinal and bulbar muscular atrophy. (Abstract) Am. J. Hum. Genet. 49 (suppl.): 20, 1991.
[0026753]17341.Lewis, M.; Kaita, H.; Giblett, E. R.; Anderson, J.; Philipps, S.; Steinberg, A. G.; McAlpine, P. J.: Multiplicity of genetic polymorphisms of blood in the Schmiedeleut Hutterites. Am. J. Med. Genet. 22: 477-485, 1985.
[0026754]17342.Lim, H. N.; Chen, H.; McBride, S.; Dunning, A. M.; Nixon, R. M.; Hughes, I. A.; Hawkins, J. R.: Longer polyglutamine tracts in the androgen receptor are associated with moderate to severe undermasculinized genitalia in XY males. Hum. Molec. Genet. 9: 829-834, 2000.
[0026755]17343.Lobaccaro, J.-M.; Lumbroso, S.; Belon, C.; Galtier-Dereure, F.; Bringer, J.; Lesimple, T.; Namer, M.; Cutuli, B. F.; Pujol, H.; Sultan, C.: Androgen receptor gene mutation in male breast cancer. Hum. Molec. Genet. 2: 1799-1802, 1993.
[0026756]17344.Lubahn, D. B.; Brown, T. R.; Simental, J. A.; Higgs, H. N.; Migeon, C. J.; Wilson, E. M.; French, F. S.: Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity. Proc. Nat. Acad. Sci. 86: 9534-9538, 1989.
[0026757]17345.Lubahn, D. B.; Joseph, D. R.; Sar, M.; Tan, J.; Higgs, H. N.; Larson, R. E.; French, F. S.; Wilson, E. M.: The human androgen receptor: complementary deoxyribonucleic acid cloning, sequence analysis and gene expression in prostate. Molec. Endocr. 2: 1265-1275, 1988.
[0026758]17346.Lubahn, D. B.; Joseph, D. R.; Sullivan, P. M.; Willard, H. F.; French, F. S.; Wilson, E. M.: Cloning of human androgen receptor complementary DNA and localization to the X chromosome. Science 240: 327-330, 1988.
[0026759]17347.Lumbroso, S.; Lobaccaro, J. M.; Georget, V.; Leger, J.; Poujol, N.; Terouanne, B.; Evain-Brion, D.; Czernichow, P.; Sultan, C.: A novel substitution (leu707-to-arg) in exon 4 of the androgen receptor gene causes complete androgen resistance. J. Clin. Endocr. Metab. 81: 1984-1988, 1996.
[0026760]17348.Stuppia, L.; Calabrese, G.; Franchi, P. G.; Mingarelli, R.; Gatta, V.; Palka, G.; Dallapiccola, B.: Widening of a Y-chromosome interval-6 deletion transmitted from a father to his infertile son accounts for an oligozoospermia critical region distal to the RBM1 and DAZ genes. (Letter) Am. J. Hum. Genet. 59: 1393-1395, 1996.
[0026761]17349.Brown, G. M.; Furlong, R. A.; Sargent, C. A.; Erickson, R. P.; Longepied, G.; Mitchell, M.; Jones, M. H.; Hargreave, T. B.; Cooke, H. J.; Affara, N. A.: Characterisation of the coding sequence and fine mapping of the human DFFRY gene and comparative expression analysis and mapping to the Sxr-b interval of the mouse Y chromosome of the Dffry gene. Hum. Molec. Genet. 7: 97-107, 1998.
[0026762]17350.Ferlin, A.; Moro, E.; Garolla, A.; Foresta, C.: Human male infertility and Y chromosome deletions: role of the AZF-candidate genes DAZ, RBM and DFFRY. Hum. Reprod. 14: 1710-1716, 1999.
[0026763]17351.Foresta, C.; Ferlin, A.; Moro, E.: Deletion and expression analysis of AZFa genes on the human Y chromosome revealed a major role for DBY in male infertility. Hum. Molec. Genet. 9: 1161-1169, 2000.
[0026764]17352.Sargent, C. A..; Boucher, C. A.; Kirsch, S.; Brown, G.; Weiss, B.; Trundley, A.; Burgoyne, P.; Saut, N.; Durand, C.; Levy, N.; Terriou, P.; Hargreave, T.; Cooke, H.; Mitchell, M.; Rappold, G. A.; Affara, N. A.: The critical region of overlap defining the AZFa male infertility interval of proximal Yq contains three transcribed sequences. J. Med. Genet. 36: 670-677, 1999.
[0026765]17353.Shen, P.; Wang, F.; Underhill, P. A.; Franco, C.; Yang, W.-H.; Roxas, A.; Sung, R.; Lin, A. A.; Hyman, R. W.; Vollrath, D.; Davis, R. W.; Cavalli-Sforza, L. L.; Oefner, P. J.: Population genetic implications from sequence variation in four Y chromosome genes. Proc. Nat. Acad. Sci. 97: 7354-7359, 2000.
[0026766]17354.Sun, C.; Skaletsky, H.; Birren, B.; Devon, K.; Tang, Z.; Silber, S.; Oates, R.; Page, D. C.: An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y. Nature Genet. 23: 429-432, 1999.
[0026767]17355.Thomson, R.; Pritchard, J. K.; Shen, P.; Oefner, P. J.; Feldman, M. W.: Recent common ancestry of human Y chromosomes: evidence from DNA sequence data. Proc. Nat. Acad. Sci. 97: 7360-7365, 2000.
[0026768]17356.Schiebel, K.; Winkelmann, M.; Mertz, A.; Xu, X.; Page, D. C.; Weil, D.; Petit, C.; Rappold,, G. A.: Abnormal XY interchange between a novel isolated protein kinase gene, PRKY, and its homologue, PRKX, accounts for one third of all (Y+)XX males and (Y-)XY females. Hum. Molec. Genet. 6: 1985-1989, 1997.
[0026769]17357.Scott, D.; Addey, C.; Ellis, P; James, E.; Mitchell, M. J.; Saut, N.; Jurcevic, S.; Simpson, E.: Dendritic cells permit identification of genes encoding MHC class II-restricted epitopes of transplantation antigens. Immunity 12: 711-720, 2000.
[0026770]17358.Wu, G.; Chai, J.; Suber, T. L.; Wu, J.-W.; Du, C.; Wang, X.; Shi, Y.: Structural basis of IAP recognition by Smac/DIABLO. Nature 408: 1008-1012, 2000.
[0026771]17359.Shih, V. E.: Urea cycle disorders and other congenital hyperammonemic syndromes.In: Stanbury, J. B.; Wyngaarden, J. B.; Fredrickson, D. S.: The Metabolic Basis of Inherited Disease. New York: McGraw-Hill (pub.) (4th ed.): 1978. Pp. 362-386. 100. Shih, V. E.; Berson, E. L.; Mandell, R.; Schmidt, S. Y.: Ornithine ketoacid transaminase deficiency in gyrate atrophy of the choroid and retina. Am. J. Hum. Genet. 30: 174-179, 1978. 101. Short, E. M.; Conn, H. O.; Snodgrass, P. J.; Campbell, A. G. M.; Rosenberg, L. E.: Evidence for X-linked dominant inheritance of ornithine transcarbamylase deficiency. New Eng. J. Med. 288: 7-12, 1973. 102. Snodgrass, P. J.; Wappner, R. S.; Brandt, I. K.: White cell ornithine transcarbamylase activity cannot detect the liver enzyme deficiency. (Letter) Pediat. Res. 12: 873, 1978. 103. Stoll, C.; Bieth, R.; Dreyfus, J.; Flori, E.; Lutz, P.; Levy, J.-M.: Une nouvelle famille avec mutation du gene de structure de l'ornithine carbamyltransferase humaine. Arch. Franc. Pediat. 35: 512-518, 1978. 104. Strautnieks, S.; Rutland, P.; Malcolm, S.: Arginine 109 to glutamine mutation in a girl with ornithine carbamoyl transferase deficiency. J. Med. Genet. 28: 871-874, 1991. 105. Suess, P. J.; Tsai, M. Y.; Holzknecht, R. A.; Horowitz, M.; Tuchman, M.: Screening for gene deletions and known mutations in 13 patients with ornithine transcarbamylase deficiency. Biochem. Med. Metab. Biol. 47: 250-259, 1992. 106. Sunshine, P.; Lindenbaum, J. E.; Levy, H. L.; Freeman, J. M. : Hyperammonemia due to a defect in hepatic ornithine transcarbamylase. Pediatrics 50: 100-111, 1972. 107. Thaler, M. M.; Hoogenraad, N. J.; Boswell, M.: Reye's syndrome due to a novel protein-tolerant variant of ornithinetranscarbamylase deficiency. Lancet II: 438-440, 1974. 108. Tripp, J. H.; Hargreaves, T.; Anthony, P. P.; Searle, J. F.; Miller, P.; Leonard, J. V.; Patrick, A. D.; Oberholzer, V. G.: Sodium valproate and ornithine carbamyl transferase deficiency. (Letter) Lancet I: 1165-1166, 1981. 109. Tuchman, M.: Mutations and polymorphisms in the human ornithine transcarbamylase gene. Hum. Mutat. 2: 174-178, 1993. 110. Tuchman, M.; Holzknecht, R. A.; Gueron, A. B.; Berry, S. A.; Tsai, M. Y.: Six new mutations in the ornithine transcarbamylase gene detected by single-strand conformational polymorphism. Pediat. Res. 32: 600-604, 1992. 111. Tuchman, M.; Jaleel, N.; Morizono, H.; Sheehy, L.; Lynch, M. G.: Mutations and polymorphisms in the human ornithine transcarbamylase gene. Hum. Mutat. 19: 93-107, 2002. 112. Tuchman, M.; Matsuda, I.; Munnich, A.; Malcolm, S.; Strautnieks, S.; Briede, T.: Proportions of spontaneous mutations in males and females with ornithine transcarbamylase deficiency. Am. J. Med. Genet. 55: 67-70, 1995. 113. Tuchman, M.; Morizono, H.; Reish, O.; Yuan, X.; Allewell, N. M.: The molecular basis of ornithine transcarbamylase deficiency: modelling the human enzyme and the effects of mutations. J. Med. Genet. 32: 680-688, 1995. 114. Tuchman, M.; Plante, R. J.; Garcia-Perez, M. A.; Rubio, V.: Relative frequency of mutations causing ornithine transcarbamylase deficiency in 78 families. Hum. Genet. 97: 274-276, 1996. 115. Tuchman, M.; Plante, R. J.; McCann, M. T.; Qureshi, A. A.: Seven new mutations in the human ornithine transcarbamylase gene. Hum. Mutat. 4: 57-60, 1994. 116. Veres, G.; Gibbs, R. A.; Scherer, S. E.; Caskey, C. T.: The molecular basis of the sparse fur mouse mutation. Science 237: 415-417, 1987. 117. Wareham, K. A.; Lyon, M. F.; Glenister, P. H.; Williams, E. D. : Age related reactivation of an X-linked gene. Nature 327: 725-727, 1987. 118. Wettke-Schafer, R.; Kantner, G.: X-linked dominant inherited diseases with lethality in hemizygous males. Hum. Genet. 64: 1-23, 1983. 119. Wilson, C. J.; Lee, P. J.; Leonard, J. V.: Plasma glutamine and ammonia concentrations in ornithine carbamoyltransferase deficiency and citrullinaemia. J. Inherit. Metab. Dis. 24: 691-695, 2001. 120. Winter, R. M.; Donnai, D.; Burn, J.; Tuckers, S. M.: Fetal valproate syndrome: is there a recognisable phenotype?. J. Med. Genet. 24: 692-695, 1987. 121. Yorifuji, T.; Muroi, J.; Uematsu, A.; Tanaka, K.; Kiwaki, K.; Endo, F.; Matsuda, I.; Nagasaka, H.; Furusho, K.: X-inactivation pattern in the liver of a manifesting female with ornithine transcarbamylase (OTC) deficiency. Clin. Genet. 54: 349-353, 1998. 122. Yudkoff, M.; Daikhin, Y.; Nissim, I.; Jawad, A.; Wilson, J.; Batshaw, M.: In vivo nitrogen metabolism in ornithine transcarbamylase deficiency. J. Clin. Invest. 98: 2167-2173, 1996. 123. Yudkoff, M.; Yang, W.; Snodgrass, P. J.; Segal, S.: Ornithine transcarbamylase deficiency in a boy with normal development. J. Pediat. 96: 441-443, 1980.
[0026772]17360.Macke, J. P.; Hu, N.; Hu, S.; Bailey, M.; King, V. L.; Brown, T.; Hamer, D.; Nathans, J.: Sequence variation in the androgen receptor gene is not a common determinant of male sexual orientation. Am. J. Hum. Genet. 53: 844-852, 1993.
[0026773]17361.Nakamura, H.; Izumoto, Y.; Kambe, H.; Kuroda, T.; Mori, T.; Kawamura, K.; Yamamoto, H.; Kishimoto, T.: Molecular cloning of complementary DNA for a novel human hepatomaderived growth factor: its homology with high mobility group-1 protein. J. Biol. Chem. 269: 25143-25149, 1994.
[0026774]17362.Wanschura, S.; Schoenmakers, E. F. P. M.; Huysmans, C.; Bartnitzke, S.; Van de Ven, W. J. M.; Bullerdiek, J.: Mapping of the gene encoding the human hepatoma-derived growth factor (HDGF) with homology to the high-mobility group (HMG)-1 protein to Xq25. Genomics 32: 298-300, 1996.
[0026775]17363.Gedeon, A. K.; Glass, I. A.; Connor, J. M.; Mulley, J. C.: Genetic localisation of MRX27 to Xq24-26 defines another discrete gene for non-specific X-linked mental retardation. Am. J. Med. Genet. 64: 121-124, 1996.
[0026776]17364.Amir, J.; Alpert, G.; Statter, M.; Gutman, A.; Reisner, S. H.: Intracranial haemorrhage in siblings and ornithine transcarbamylase deficiency. Acta Paediat. Scand. 71: 671-673, 1982.
[0026777]17365.Anadiotis, G.; Ierardi-Curto, L.; Kaplan, P. B.; Berry, G. T.: Ornithine transcarbamylase deficiency and pancreatitis. J. Pediat. 138: 123-124, 2001.
[0026778]17366.Ardinger, H. H.; Atkin, J. F.; Blackston, R. D.; Elsas, L. J.; Clarren, S. K.; Livingstone, S.; Flannery, D. B.; Pellock, J. M.; Harrod, M. J.; Lammer, E. J.; Majewski, F.; Schinzel, A.; Toriello, H. V.; Hanson, J. W.: Verification of the fetal valproate syndrome phenotype. Am. J. Med. Genet. 29: 171-185, 1988.
[0026779]17367.McMurtrie, E. B.; Barbosa, M. D. F. S.; Zerial, M.; Kingsmore, S. F.: Rab17 and Rab18, small GTPases with specificity for polarized epithelial cells: genetic mapping in the mouse. Genomics 45: 623-625, 1997.
[0026780]17368.Schafer, U.; Seibold, S.; Schneider, A.; Neugebauer, E.: Isolation and characterisation of the human rab18 gene after stimulation of endothelial cells with histamine. FEBS Lett. 466: 148-154, 2000.
[0026781]17369.Doupnik, C. A.; Davidson, N.; Lester, H. A.: The inward rectifier potassium channel family. Curr. Opin. Neurobiol. 5: 268-277, 1995.
[0026782]17370.Tada, Y.; Horio, Y.; Takumi, T.; Terayama, M.; Tsuji, L.; Copeland, N. G.; Jenkins, N. A.; Kurachi, Y.: Assignment of the glial inwardly rectifying potassium channel K(AB)-2/Kir4.1 (Kcnj10) gene to the distal region of mouse chromosome 1. Genomics 45: 629-630, 1997.
[0026783]17371.Takumi, T.; Ishii, T.; Horio, Y.; Morishige, K.-I.; Takahashi, N.; Yamada, M.; Yamashita, T.; Kiyama, H.; Sohmiya, K.; Nakanishi, S.; Kurachi, Y.: A novel ATP-dependent inward rectifier potassium channel expressed predominantly in glial cells. J. Biol. Chem. 270: 16339-16436, 1995.
[0026784]17372.Schenker, T.; Trueb, B.: Assignment of the gene for a developmentally regulated GTPbinding protein (DRG2) to human chromosome bands 17p13-p12 by in situ hybridization. Cytogenet. Cell Genet. 79: 274-275, 1997.
[0026785]17373.Heikkinen, J.; Risteli, M.; Wang, C.; Latvala, J.; Rossi, M.; Valtavaara, M.; Myllyla, R.: Lysyl hydroxylase 3 is a multifunctional protein possessing collagen glucosyltransferase activity. J. Biol. Chem. 275: 36158-36163, 2000.
[0026786]17374.Passoja, K.; Rautavuoma, K.; Ala-Kokko, L.; Kosonen, T.; Kivirikko, K. I.: Cloning and characterization of a third human lysyl hydroxylase isoform. Proc. Nat. Acad. Sci. 95: 10482-10486, 1998.
[0026787]17375.Valtavaara, M.; Szpirer, C.; Szpirer, J.; Myllyla, R.: Primary structure, tissue distribution, and chromosomal localization of a novel isoform of lysyl hydroxylase (lysyl hydroxylase 3). J. Biol. Chem. 273: 12881-12886, 1998.
[0026788]17376.Ishibashi, T.; Bottaro, D. P.; Michieli, P.; Kelley, C. A.; Aaronson, S. A.: A novel dual specificity phosphatase induced by serum stimulation and heat shock. J. Biol. Chem. 269: 29897-29902, 1994.
[0026789]17377.Kwak, S. P.; Dixon, J. E.: Multiple dual specificity protein tyrosine phosphatases are expressed and regulated differentially in liver cell lines. J. Biol. Chem. 270: 1156-1160, 1995.
[0026790]17378.Kovalenko, O. V.; Golub, E. I.; Bray-Ward, P.; Ward, D. C.; Radding, C. M.: A novel nucleic acid-binding protein that interacts with human Rad51 recombinase. Nucleic Acids Res. 25: 4946-4953, 1997.
[0026791]17379.Mizuta, R.; LaSalle, J. M.; Cheng, H.-L.; Shinohara, A.; Ogawa, H.; Copeland, N.; Jenkins, N. A.; Lalande, M.; Alt, F. W.: RAB22 and RAB163/mouse BRCA2: proteins that specifically interact with the RAD51 protein. Proc. Nat. Acad. Sci. 94: 6927-6932, 1997.
[0026792]17380.Blasius, R.; Weber, R. G.; Lichter, P.; Ogilvie, A.: A novel orphan G protein-coupled receptor primarily expressed in the brain is localized on human chromosomal band 2q21. J. Neurochem. 70: 1357-1365, 1998.
[0026793]17381.Raport, C. J.; Schweickart, V. L.; Chantry, D.; Eddy, R. L., Jr.; Shows, T. B.; Godiska, R.; Gray, P. W.: New members of the chemokine receptor gene family. J. Leukoc. Biol. 59: 18-23, 1996.
[0026794]17382.Shindo, M.; Nakano, H.; Kuroyanagi, H.; Shirasawa, T.; Mihara, M.; Gilbert, D. J.; Jenkins, N. A.; Copeland, N. G.; Yagita, H.; Okumura, K.: cDNA cloning, expression, subcellular localization, and chromosomal assignment of mammalian aurora homologues, aurora-related kinase (ARK) 1 and 2. Biochem. Biophys. Res. Commun. 244: 285-292, 1998.
[0026795]17383.Presky, D. H.; Yang, H.; Minetti, L. J.; Chua, A. O.; Nabavi, N.; Wu, C.-Y.; Gately, M. K.; Gubler, U.: A functional interleukin 12 receptor complex is composed of two beta-type cytokine receptor subunits. Proc. Nat. Acad. Sci. 93: 14002-14007, 1996.
[0026796]17384.Yamamoto, K.; Kobayashi, H.; Miura, O.; Hirosawa, S.; Miyasaka, N.: Assignment of IL12RB1 and IL12RB2, interleukin-12 receptor beta-1 and beta-2 chains, to human chromosome 19 band p13.1 and chromosome 1 band p31.2, respectively, by in situ hybridization. Cytogenet. Cell Genet. 77: 257-258, 1997.
[0026797]17385.Turelli, P.; Doucas, V.; Craig, E.; Mangeat, B.; Klages, N.; Evans, R.; Kalpana, G.; Trono, D.: Cytoplasmic recruitment of INI1 and PML on incoming HIV preintegration complexes: interference with early steps of viral replication. Molec. Cell 7: 1245-1254, 2001.
[0026798]17386.Lafreniere, R. G.; Rochefort, D. L.; Kibar, Z.; Fon, E. A.; Han, F.-Y.; Cochius, J.; Kang, X.; Baird, S.; Korneluk, R. G.; Andermann, E.; Rommens, J. M.; Rouleau, G. A.: Isolation and characterization of GT335, a novel human gene conserved in Escherichia coli and mapping to 21q22.3. Genomics 38: 264-272, 1996.
[0026799]17387.Nagamine, K.; Kudoh, J.; Minoshima, S.; Kawasaki, K.; Asakawa, S.; Ito, F.; Shimizu, N.: Isolation of cDNA for a novel human protein KNP-I that is homologous to the E. coli SCRP-27A protein from the autoimmune polyglandular disease type I (APECED) region of chromosome 21q22.3. Biochem. Biophys. Res. Commun. 225: 608-616, 1996.
[0026800]17388.Scott, H. S.; Chen, H.; Rossier, C.; Lalioti, M. D.; Antonarakis, S. E.: Isolation of a human gene (HES1) with homology to an Escherichia coli and a zebrafish protein that maps to chromosome 21q22.3. Hum. Genet. 99: 616-623, 1997.
[0026801]17389.Bernier-Villamor, V.; Sampson, D. A.; Matunis, M. J.; Lima, C. D.: Structural basis for E2-mediated SUMO conjugation revealed by a complex between ubiquitin-conjugating enzyme Ubc9 and RanGAP1. Cell 108: 345-356, 2002.
[0026802]17390.Shi, Y.; Zou, M.; Farid, N. R.; Paterson, M. C.: Association of FHIT (fragile histidine triad), a candidate tumour suppressor gene, with the ubiquitin-conjugating enzyme hUBC9. Biochem. J. 352: 443-448, 2000.
[0026803]17391.Tachibana, M.; Iwata, N.; Watanabe, A.; Nobukuni, Y.; Ploplis, B.; Kajigaya, S.: Assignment of the gene for a ubiquitin-conjugating enzyme (UBE2I) to human chromosome band 16p13.3 by in situ hybridization. Cytogenet. Cell Genet. 75: 222-223, 1996.
[0026804]17392.Wang, Z.-Y.; Qiu, Q.-Q.; Seufert, W.; Taguchi, T.; Testa, J. R.; Whitmore, S. A.; Callen, D. F.; Welsh, D.; Shenk, T.; Deuel, T. F. : Molecular cloning of the cDNA and chromosome localization of the gene for human ubiquitin-conjugating enzyme 9. J. Biol. Chem. 271: 24811-24816, 1996.
[0026805]17393.Yasugi, T.; Howley, P. M.: Identification of the structural and functional human homolog of the yeast ubiquitin conjugating enzyme UBC9. Nucleic Acids Res. 24: 2005-2010, 1996.
[0026806]17394.Bowen, M. A.; Patel, D. D.; Li, X.; Modrell, B.; Malacko, A. R.; Wang, W.-C.; Marquardt, H.; Neubauer, M.; Pesando, J. M.; Francke, U.; Haynes, B. F.; Aruffo, A.: Cloning, mapping, and characterization of activated leukocyte-cell adhesion molecule (ALCAM), a CD6 ligand. J. Exp. Med. 181: 2213-2220, 1995.
[0026807]17395.Skonier, J. E.; Bowen, M. A.; Emswiler, J.; Aruffo, A.; Bajorath, J.: Recognition of diverse proteins by members of the immunoglobulin superfamily: delineation of the receptor binding site in the human CD6 ligand ALCAM. Biochemistry 35: 12287-12291, 1996.
[0026808]17396.Bord, S.; Horner, A.; Beavan, S.; Compston, J.: Estrogen receptors alpha and beta are differentially expressed in developing human bone. J. Clin. Endocr. Metab. 86: 2309-2314, 2001.
[0026809]17397.Watanabe, T. K.; Fujiwara, T.; Kawai, A.; Shimizu, F.; Takami, S.; Hirano, H.; Okuno, S.; Ozaki, K.; Takeda, S.; Shimada, Y.; Nagata, M.; Takaichi, A.; Takahashi, E.; Nakamura, Y.; Shin, S.: Cloning, expression, and mapping of UBE2I, a novel gene encoding a human homologue of yeast ubiquitin-conjugating enzymes which are critical for regulating the cell cycle. Cytogenet. Cell Genet. 72: 86-89, 1996.
[0026810]17398.Chaidarun, S. S.; Swearingen, B.; Alexander, J. M.: Differential expression of estrogen receptor-beta (ER-beta) in human pituitary tumors: functional interactions with ER-alpha and a tumorspecific splice variant. J. Clin. Endocr. Metab. 83: 3308-3315, 1998.
[0026811]17399.Chu, S.; Mamers, P.; Burger, H. G.; Fuller, P. J.: Estrogen receptor isoform gene expression in ovarian stromal and epithelial tumors. J. Clin. Endocr. Metab. 85: 1200-1205, 2000.
[0026812]17400.Enmark, E.; Pelto-Huikko, M.; Grandien, K.; Lagercrantz, S.; Lagercrantz, J.; Fried, G.; Nordenskjold, M.; Gustafsson, J.-A.: Human estrogen receptor beta-gene structure, chromosomal localization, and expression pattern. J. Clin. Endocr. Metab. 82: 4258-4265, 1997.
[0026813]17401.Esmaeli, B.; Harvey, J. T.; Hewlett, B.: Immunohistochemical evidence for estrogen receptors in meibomian glands. Ophthalmology 107: 180-184, 2000.
[0026814]17402.Forsell, C.; Enmark, E.; Axelman, K.; Blomberg, M.; Wahlund, L.-O.; Gustafsson, J.-A.; Lannfelt, L.: Investigations of a CA repeat in the oestrogen receptor beta gene in patients with Alzheimer's disease. Europ. J. Hum. Genet. 9: 802-804, 2001.
[0026815]17403.Korach, K. S.; Couse, J. F.; Curtis, S. W.; Washburn, T. F.; Lindzey, J.; Kimbro, K. S.; Eddy, E. M.; Migliaccio, S.; Snedeker, S. M.; Lubahn, D. B.; Schomberg, D. W.; Smith, E. P.: Estrogen receptor gene disruption: molecular characterization and experimental and clinical phenotypes. Recent Prog. Horm. Res. 51: 159-188, 1996.
[0026816]17404.Krege, J. H.; Hodgin, J. B.; Couse, J. F.; Enmark, E.; Warner, M.; Mahler, J. F.; Sar, M.; Korach, K. S.; Gustafsson, J.-A.; Smithies, O.: Generation and reproductive phenotypes of mice lacking estrogen receptor beta. Proc. Nat. Acad. Sci. 95: 15677-15682, 1998.
[0026817]17405.Krezel, W.; Dupont, S.; Krust, A.; Chambon, P.; Chapman, P. F. : Increased anxiety and synaptic plasticity in estrogen receptor beta-deficient mice. Proc. Nat. Acad. Sci. 98: 12278-12282, 2001.
[0026818]17406.Kuiper, G. G. J. M.; Enmark, E.; Pelto-Huikko, M.; Nilsson, S.; Gustafsson, J.-A.: Cloning of a novel estrogen receptor expressed in rat prostate and ovary. Proc. Nat. Acad. Sci. 93: 5925-5930, 1996.
[0026819]17407.Mosialos, G.; Birkenbach, M.; Yalamanchili, R.; VanArsdale, T.; Ware, C.; Kieff, E.: The Epstein-Barr virus transforming protein LMP1 engages signaling proteins for the tumor necrosis factor receptor family. Cell 80: 389-399, 1995.
[0026820]17408.Rothe, M.; Wong, S. C.; Henzel, W. J.; Goeddel, D. V.: A novel family of putative signal transducers associated with the cytoplasmic domain of the 75 kDa tumor necrosis factor receptor. Cell 78: 681-692, 1994.
[0026821]17409.Siemienski, K.; Peters, N.; Scheurich, P.; Wajant, H.: Organization of the human tumour necrosis factor receptor-associated factor 1 (TRAF1) gene and mapping to chromosome 9q33-34. Gene 195: 35-39, 1997.
[0026822]17410.Tsitsikov, E. N.; Laouini, D.; Dunn, I. F.; Sannikova, T. Y.; Davidson, L.; Alt, F. W.; Geha, R. S.: TRAF1 is a negative regulator of TNF signaling: enhanced TNF signaling in TRAF1-deficient mice. Immunity 15: 647-657, 2001.
[0026823]17411.Miyamoto, K.; Kesterson, R. A.; Yamamoto, H.; Taketani, Y.; Nishiwaki, E.; Tatsumi, S.; Inoue, Y.; Morita, K.; Takeda, E.; Pike, J. W.: Structural organization of the human vitamin D receptor chromosomal gene and its promoter. Molec. Endocr. 11: 1165-1179, 1997.
[0026824]17412.Pedeutour, F.; Merscher, S.; Durieux, E.; Montgomery, K.; Krauter, K.; Clevy, J.-P.; Barcelo, G.; Kucherlapati, R.; Gaudray, P.; Turc-Carel, C.: Mapping of the 12q12-q22 region with respect to tumor translocation breakpoints. Genomics 22: 512-518, 1994.
[0026825]17413.Riggs, B. L.: Vitamin D-receptor genotypes and bone density. (Editorial) New Eng. J. Med. 337: 125-126, 1997.
[0026826]17414.Ritchie, H. H.; Hughes, M. R.; Thompson, E. T.; Malloy, P. J.; Hochberg, Z.; Feldman, D.; Pike, J. W.; O'Malley, B. W.: An ochre mutation in the vitamin D receptor gene causes hereditary 1,25-dihydroxyvitamin D3-resistant rickets in three families. Proc. Nat. Acad. Sci. 86: 9783-9787, 1989.
[0026827]17415.Saijo, T.; Ito, M.; Takeda, E.; Mahbubul Huq, A. H. M.; Naito, E.; Yokota, I.; Sone, T.; Pike, J. W.; Kuroda, Y.: A unique mutation in the vitamin D receptor gene in three Japanese patients with vitamin D-dependent rickets type II: utility of single-strand conformation polymorphism analysis for heterozygous carrier detection. Am. J. Hum. Genet. 49: 668-673, 1991.
[0026828]17416.Sainz, J.; Van Tornout, J. M.; Loro, L.; Sayre, J.; Roe, T. F.; Gilsanz, V.: Vitamin Dreceptor gene polymorphisms and bone density in prepubertal American girls of Mexican descent. New Eng. J. Med. 337: 77-82, 1997.
[0026829]17417.Sone, T.; Marx, S. J.; Liberman, U. A.; Pike, J. W.: A unique point mutation in the human vitamin D receptor chromosomal gene confers hereditary resistance to 1,25-dihydroxyvitamin D(3). Molec. Endocr. 4: 623-631, 1990.
[0026830]17418.Suarez, F.; Zeghoud, F.; Rossignol, C.; Walrant, O.; Garabedian, M.: Association between vitamin D receptor gene polymorphism and sex-dependent growth during the first two years of life. J. Clin. Endocr. Metab. 82: 2966-2970, 1997.
[0026831]17419.Tao, C.; Yu, T.; Garnett, S.; Briody, J.; Knight, J.; Woodhead, H.; Cowell, C. T.: Vitamin D receptor alleles predict growth and bone density in girls. Arch. Dis. Child. 79: 488-494, 1998.
[0026832]17420.Uitterlinden, A. G.; Burger, H.; Huang, Q.; Odding, E.; van Duijn, C. M.; Hofman, A.; Birkenhager, J. C.; van Leeuwen, J. P. T. M.; Pols, H. A. P.: Vitamin D receptor genotype is associated with radiographic osteoarthritis at the knee. J. Clin. Invest. 100: 259-263, 1997.
[0026833]17421.Uitterlinden, A. G.; Weel, A. E. A. M.; Burger, H.; Fang, Y.; Van Duijn, C. M.; Hofman, A.; Van Leeuwen, J. P. T. M.; Pols, H. A. P.: Interaction between the vitamin D receptor gene and collagen type I-alpha-1 gene in susceptibility for fracture. J. Bone Miner. Res. 16: 379-385, 2001.
[0026834]17422.Whitfield, G. K.; Selznick, S. H.; Haussler, C. A.; Hsieh, J.-C.; Galligan, M. A.; Jurutka, P. W.; Thompson, P. D.; Lee, S. M.; Zerwekh, J. E.; Haussler, M. R.: Vitamin D receptors from patients with resistance to 1,25-dihydroxyvitamin D(3): point mutations confer reduced transactivation in response to ligand and impaired interaction with the retinoid X receptor heterodimeric partner. Molec. Endocr. 10: 1617-1631, 1996.
[0026835]17423.Yoshizawa, T.; Handa, Y.; Uematsu, Y.; Takeda, S.; Sekine, K.; Yoshihara, Y.; Kawakami, T.; Arioka, K.; Sato, H.; Uchiyama, Y.; Masushige, S.; Fukamizu, A.; Matsumoto, T.; Kato, S.: Mice lacking the vitamin D receptor exhibit impaired bone formation, uterine hypoplasia and growth retardation after weaning. Nature Genet. 16: 391-396, 1997.
[0026836]17424.Zhu, W.; Malloy, P. J.; Delvin, E.; Chabot, G.; Feldman, D.: Hereditary 1,25-dihydroxyvitamin D-resistant rickets due to an opal mutation causing premature termination of the vitamin D receptor. J. Bone Miner. Res. 13: 259-264, 1998.
[0026837]17425.Bejjani, B. A.; Lewis, R. A.; Tomey, K. F.; Anderson, K. L.; Dueker, D. K.; Jabak, M.; Astle, W. F.; Otterud, B.; Leppert, M.; Lupski, J. R.: Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia. Am. J. Hum. Genet. 62: 325-333, 1998.
[0026838]17426.Bejjani, B. A.; Stockton, D. W.; Lewis, R. A.; Tomey, K. F.; Dueker, D. K.; Jabak, M.; Astle, W. F.; Lupski, J. R.: Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus. Hum. Molec. Genet. 9: 367-374, 2000.
[0026839]17427.Lin, J.; Arnold, H. B.; Della-Fera, M. A.; Azain, M. J.; Hartzell, D. L.; Baile, C. A.: Myostatin knockout in mice increases myogenesis and decreases adipogenesis. Biochem. Biophys. Res. Commun. 291: 701-706, 2002.
[0026840]17428.McPherron, A. C.; Lawler, A. M.; Lee, S.-J.: Regulation of skeletal muscle mass in mice by a new TGF-beta superfamily member. Nature 387: 83-90, 1997.
[0026841]17429.Strautnieks, S. S.; Bull, L. N.; Knisely, A. S.; Kocoshis, S. A.; Dahl, N.; Arnell, H.; Sokal, E.; Dahan, K.; Childs, S.; Ling, V.; Tanner, M. S.; Kagalwalla, A. F.; Nemeth, A.; Pawlowska, J.; Baker, A.; Mieli-Vergani, G.; Freimer, N. B.; Gardiner, R. M.; Thompson, R. J.: A gene encoding a liverspecific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nature Genet. 20: 233-238, 1998.
[0026842]17430.Roldan-Arjona, T.; Wei, Y.-F.; Carter, K. C.; Klungland, A.; Anselmino, C.; Wang, R.-P.; Augustus, M.; Lindahl, T.: Molecular cloning and functional expression of a human cDNA encoding the antimutator enzyme 8-hydroxyguanine-DNA glycosylase. Proc. Nat. Acad. Sci. 94: 8016-8020, 1997.
[0026843]17431.Goldman, M. J.; Anderson, G. M.; Stolzenberg, E. D.; Kari, U. P.; Zasloff, M.; Wilson, J. M.: Human beta-defensin-1 is a salt-sensitive antibiotic in lung that is inactivated in cystic fibrosis. Cell 88: 553-560, 1997.
[0026844]17432.Guo, Z.; Turner, C.; Castle, D.: Relocation of the t-SNARE SNAP-23 from lamellipodia-like cell surface projections regulates compound exocytosis in mast cells. Cell 94: 537-548, 1998.
[0026845]17433.Lazo, P. A.; Nadal, M.; Ferrer, M.; Area, E.; Hernandez-Torres, J.; Nabokina, S. M.; Mollinedo, F.; Estivill, X.: Genomic organization, chromosomal localization, alternative splicing, and isoforms of the human synaptosome-associated protein-23 gene implicated in vesicle-membrane fusion processes. Hum. Genet. 108: 211-215, 2001.
[0026846]17434.Mollinedo, F.; Lazo, P. A.: Identification of two isoforms of the vesicle-membrane fusion protein SNAP-23 in human neutrophils and HL-60 cells. Biochem. Biophys. Res. Commun. 231: 808-812, 1997.
[0026847]17435.Ravichandran, V.; Chawla, A.; Roche, P. A.: Identification of a novel syntaxin- and synaptobrevin/VAMP-binding protein, SNAP-23, expressed in non-neuronal tissues. J. Biol. Chem. 271: 13300-13303, 1996.
[0026848]17436.Shukla, A.; Corydon, T. J.; Nielsen, S.; Hoffmann, H. J.; Dahl, R.: Identification of three new splice variants of the SNARE protein SNAP-23. Biochem. Biophys. Res. Commun. 285: 320-327, 2001.
[0026849]17437.Mugita, N.; Kumura, Y.; Ogawa, M.; Saya, H.; Nakao, M.: Identification of a novel, tissue-specific calpain htra-3; a human homologue of the Caenorhabditis elegans sex determination gene. Biochem. Biophys. Res. Commun. 239: 845-850, 1997.
[0026850]17438.Bohme, B.; Holtrich, U.; Wolf, G.; Luzius, H.; Grzeschik, K.-H.; Strebhardt, K.; Rubsamen-Waigmann, H.: PCR mediated detection of a new human receptor-tyrosine-kinase, HEK 2. Oncogene 8: 2857-2862, 1993.
[0026851]17439.Ruiz, J. C.; Conlon, F. L.; Robertson, E. J.: Identification of novel protein kinases expressed in the myocardium of the developing mouse heart. Mech. Dev. 48: 153-164, 1994.
[0026852]17440.Ashbourne, K. J.; Byth, B. C.; Meijers, J. C. M.; Cox, D. W.: Polymorphism of the protein C inhibitor (PCI) gene on chromosome 14. Hum. Molec. Genet. 2: 92 only, 1993.
[0026853]17441.Sadler, J. E.: Combined factors V and VIII deficiency climbs onto the map. (Editorial) J. Clin. Invest. 99: 555-556, 1997.
[0026854]17442.Yasuda, T.; Nadano, D.; Iida, R.; Tanaka, Y.; Nakanaga, M.; Kishi, K.: Discovery of a genetic polymorphism of human plasma protein C inhibitor (PCI): genetic survey utilizing isoelectric focusing followed by immunoblotting, immunological and biochemical characterization. Hum. Genet. 89: 265-269, 1992.
[0026855]17443.Arturi, F.; Russo, D.; Schlumberger, M.; du Villard, J.-A.; Caillou, B.; Vigneri, P.; Wicker, R.; Chiefari, E.; Suarez, H. G.; Filetti, S.: Iodide symporter gene expression in human thyroid tumors. J. Clin. Endocr. Metab. 83: 2493-2496, 1998.
[0026856]17444.Cho, J.-Y.; Leveille, R.; Kao, R.; Rousset, B.; Parlow, A. F.; Burak, W. E., Jr.; Mazzaferri, E. L.; Jhiang, S. M.: Hormonal regulation of radioiodide uptake activity and Na+/Isymporter expression in mammary glands. J. Clin. Endocr. Metab. 85: 2936-2943, 2000.
[0026857]17445.Couch, R. M.; Dean, H. J.; Winter, J. S.: Congenital hypothyroidism caused by defective iodide transport. J. Pediat. 106: 950-953, 1985.
[0026858]17446.Li, Z.; Matsuoka, S.; Hryshko, L. V.; Nicoll, D. A.; Bersohn, M. M.; Burke, E. P.; Lifton, R. P.; Philipson, K. D.: Cloning of the NCX2 isoform of the plasma membrane Na(+)-Ca(2+) exchanger. J. Biol. Chem. 269: 17434-17439, 1994.
[0026859]17447.Detter, J. C.; Zhang, Q.; Mules, E. H.; Novak, E. K.; Mishra, V. S.; Li, W.; McMurtrie, E. B.; Tchernev, V. T.; Wallace, M. R.; Seabra, M. C.; Swank, R. T.; Kingsmore, S. F.: Rab geranylgeranyl transferase alpha mutation in the gunmetal mouse reduces Rab prenylation and platelet synthesis. Proc. Nat. Acad. Sci. 97: 4144-4149, 2000.
[0026860]17448.Novak, E. K.; Reddington, M.; Zhen, L.; Stenberg, P. E.; Jackson, C. W.; McGarry, M. P.; Swank, R. T. :Blood 85: 1781-1789, 1995.
[0026861]17449.Swank, R. T.; Jiang, S. Y.; Reddington, M.; Conway, J.; Stephenson, D.; McGarry, M. P.; Novak, E. K. :Blood 81: 2626-2635, 1993.
[0026862]17450.Bui, T. D.; Rankin, J.; Smith, K.; Huguet, E. L.; Ruben, S.; Strachan, T.; Harris, A. L.; Lindsay, S.: A novel human Wnt gene, WNT10B, maps to 12q13 and is expressed in human breast carcinomas. Oncogene 14: 1249-1253, 1997.
[0026863]17451.Hardiman, G.; Kastelein, R. A.; Bazan, J. F.: Isolation, characterization and chromosomal localization of human WNT10B. Cytogenet. Cell Genet. 77: 278-282, 1997.
[0026864]17452.Ross, S. E.; Hemati, N.; Longo, K. A.; Bennett, C. N.; Lucas, P. C.; Erickson, R. L.; MacDougald, O. A.: Inhibition of adipogenesis by Wnt signaling. Science 289: 950-953, 2000.
[0026865]17453.Meyerhardt, J. A.; Look, A. T.; Bigner, S. H.; Fearon, E. R.: Identification and characterization of neogenin, a DCC-related gene. Oncogene 14: 1129-1136, 1997.
[0026866]17454.Vielmetter, J.; Chen, X.-N.; Miskevich, F.; Lane, R. P.; Yamakawa, K.; Korenberg, J. R.; Dreyer, W. J.: Molecular characterization of human neogenin, a DCC-related protein, and the mapping of its gene (NEO1) to chromosomal position 15q22.3-q23. Genomics 41: 414-421, 1997.
[0026867]17455.Vielmetter, J.; Kayyem, J. F.; Roman, J. M.; Dreyer, W. J.: Neogenin, an avian cell surface protein expressed during terminal neuronal differentiation, is closely related to the human tumor suppressor molecule deleted in colorectal cancer. J. Cell Biol. 127: 2009-2020, 1994.
[0026868]17456.Rosenquist, T. A.; Zharkov, D. O.; Grollman, A. P.: Cloning and characterization of a mammalian 8-oxoguanine DNA glycosylase. Proc. Nat. Acad. Sci. 94: 7429-7434, 1997.
[0026869]17457.Tani, M.; Shinmura, K.; Kohno, T.; Shiroishi, T.; Wakama, S.; Kim, S.-R.; Nohmi, T.; Kasai, H.; Takenoshita, S.; Nagamachi, Y.; Yokota, J.: Genomic structure and chromosomal localization of the mouse Ogg1 gene that is involved in the repair of 8-hydroxyguanine in DNA damage. Mammalian Genome 9: 32-37, 1998.
[0026870]17458.Lim, H. N.; Hawkins, J. R.; Hughes, I. A.: Genetic evidence to exclude the androgen receptor co-factor, ARA70 (NCOA4) as a candidate gene for the causation of undermasculinised genitalia. (Letter) Clin. Genet. 59: 284-286, 2001.
[0026871]17459.Santoro, M.; Dathan, N. A.; Berlingieri, M. T.; Bongarzone, I.; Paulin, C.; Grieco, M.; Pierotti, M. A.; Vecchio, G.; Fusco, A.: Molecular characterization of RET/PTC3: a novel rearranged version of the RET proto-oncogene in a human thyroid papillary carcinoma. Oncogene 9: 509-516, 1994.
[0026872]17460.Yeh, S.; Chang, C.: Cloning and characterization of a specific coactivator, ARA-70, for the androgen receptor in human prostate cells. Proc. Nat. Acad. Sci. 93: 5517-5521, 1996.
[0026873]17461.Huttner, K. M.; Kozak, C. A.; Bevins, C. L.: The mouse genome encodes a single homolog of the antimicrobial peptide human beta-defensin 1. FEBS Lett. 413: 45-49, 1997.
[0026874]17462.Jia, H. P.; Starner, T.; Ackermann, M.; Kirby, P.; Tack, B. F.; McCray, P. B., Jr.: Abundant human beta-defensin-1 expression in milk and mammary gland epithelium. J. Pediat. 138: 109-112, 2001.
[0026875]17463.Morrison, G. M.; Davidson, D. J.; Kilanowski, F. M.; Borthwick, D. W.; Crook, K.; Maxwell, A. I.; Govan, J. R. W.; Dorin, J. R.: Mouse beta defensin-1 is a functional homolog of human beta defensin-1. Mammalian Genome 9: 453-457, 1998.
[0026876]17464.Singh, P. K.; Jia, H. P.; Wiles, K.; Hesselberth, J.; Liu, L.; Conway, B.-A. D.; Greenberg, E. P.; Valore, E. V.; Welsh, M. J.; Ganz, T.; Tack, B. F.; McCray, P. B., Jr.: Production of beta-defensins by human airway epithelia. Proc. Nat. Acad. Sci. 95: 14961-14966, 1998.
[0026877]17465.Tunzi, C. R.; Harper, P. A.; Bar-Oz, B.; Valore, E. V.; Semple, J. L.; Watson-MacDonell, J.; Ganz, T.; Ito, S.: Beta-defensin expression in human mammary gland epithelia. Pediat. Res. 48: 30-35, 2000.
[0026878]17466.Valore, E. V.; Park, C. H.; Quayle, A. J.; Wiles, K. R.; McCray, P. B., Jr.; Ganz, T.: Human beta-defensin-1: an antimicrobial peptide of urogenital tissues. J. Clin. Invest. 101: 1633-1642, 1998.
[0026879]17467.Nagasawa, A.; Kubota, R.; Imamura, Y.; Nagamine, K.; Wang, Y.; Asakawa, S.; Kudoh, J.; Minoshima, S.; Mashima, Y.; Oguchi, Y.; Shimizu, N.: Cloning of the cDNA for a new member of the immunoglobulin superfamily (ISLR) containing leucine-rich repeat (LRR). Genomics 44: 273-279, 1997.
[0026880]17468.Paoloni-Giacobino, A.; Chen, H.; Peitsch, M. C.; Rossier, C.; Antonarakis, S. E.: Cloning of the TMPRSS2 gene, which encodes a novel serine protease with transmembrane, LDLRA, and SRCR domains and maps to 21q22.3. Genomics 44: 309-320, 1997. Note: Erratum: Genomics 44: 309-320, 1997.
[0026881]17469.McAllister, G.; Whiting, P.; Hammond, E. A.; Knowles, M. R.; Atack, J. R.; Bailey, F. J.; Maigetter, R.; Ragan, C. I.: cDNA cloning of human and rat brain myo-inositol monophosphatase: expression and characterization of the human recombinant enzyme. Biochem. J. 284: 749-754, 1992.
[0026882]17470.Sjoholt, G.; Molven, A.; Lovlie, R.; Wilcox, A.; Sikela, J. M.; Steen, V. M.: Genomic structure and chromosomal localization of a human myo-inositol monophosphatase gene (IMPA). Genomics 45: 113-122, 1997.
[0026883]17471.Steen, V. M.; Gulbrandsen, A. K.; Eiken, H. G.; Berle, J. O.: Lack of genetic variation in the coding region of the myo-inositol monophosphatase gene in lithium-treated patients with manic depressive illness. Pharmacogenetics 6: 113-116, 1996.
[0026884]17472.McDonald, M. T.; Flejter, W.; Sheldon, S.; Putzi, M. J.; Gorski, J. L.: XY sex reversal and gonadal dysgenesis due to 9p24 monosomy. Am. J. Med. Genet. 73: 321-326, 1997.
[0026885]17473.Muroya, K.; Okuyama, T.; Goishi, K.; Ogiso, Y.; Fukuda, S.; Kameyama, J.; Sato, H.; Suzuki, Y.; Terasaki, H.; Gomyo, H.; Wakui, K.; Fukushima, Y.; Ogata, T.: Sex-determining gene(s) on distal 9p: clinical and molecular studies in six cases. J. Clin. Endocr. Metab. 85: 3094-3100, 2000.
[0026886]17474.Raymond, C. S.; Shamu, C. E.; Shen, M. M.; Seifert, K. J.; Hirsch, B.; Hodgkin, J.; Zarkower, D.: Evidence for evolutionary conservation of sex-determining genes. Nature 391: 691-695, 1998.
[0026887]17475.Shan, Z.; Zabel, B.; Trautmann, U.; Hillig, U.; Ottolenghi, C.; Wang, Y.; Haaf, T.: FISH mapping of the sex-reversal region on human chromosome 9p in two XY females and in primates. Europ. J. Hum. Genet. 8: 167-173, 2000.
[0026888]17476.Shen, M. M.; Hodgkin, J.: mab-3, a gene required for sex-specific yolk protein expression and a male-specific lineage in C. elegans. Cell 54: 1019-1031, 1988.
[0026889]17477.Smith, C. A.; McClive, P. J.; Western, P. S.; Reed, K. J.; Sinclair, A. H.: Conservation of a sex-determining gene. (Letter) Nature 402: 601-602, 1999.
[0026890]17478.Veitia, R.; Nunes, M.; Brauner, R.; Doco-Fenzy, M.; Joanny-Flinois, O.; Jaubert, F.; Lortat-Jacob, S.; Fellous, M.; McElreavey, K.: Deletions of distal 9p associated with 46,XY male to female sex reversal: definition of the breakpoints at 9p23.3-p24.1. Genomics 41: 271-274, 1997.
[0026891]17479.Takekawa, M.; Posas, F.; Saito, H.: A human homolog of the yeast Ssk2/Ssk22 MAP kinase kinase kinases, MTK1, mediates stress-induced activation of the p38 and JNK pathways. EMBO J. 16: 4973-4982, 1997.
[0026892]17480.Chapman, D. L.; Agulnik, I.; Hancock, S.; Silver, L. M.; Papaioannou, V. E.: Tbx6, a mouse T-box gene implicated in paraxial mesoderm formation at gastrulation. Dev. Biol. 180: 534-542, 1996.
[0026893]17481.Chapman, D. L.; Papaioannou, V. E.: Three neural tubes in mouse embryos with mutations in the T-box gene Tbx6. Nature 391: 695-697, 1998.
[0026894]17482.Papapetrou, C.; Putt, W.; Fox, M.; Edwards, Y. H.: The human TBX6 gene: cloning and assignment to chromosome 16p11.2. Genomics 55: 238-241, 1999.
[0026895]17483.Spicer, A. P.; Olson, J. S.; McDonald, J. A.: Molecular cloning and characterization of a cDNA encoding the third putative mammalian hyaluronan synthase. J. Biol. Chem. 272: 8957-8961, 1997.
[0026896]17484.Bagri, A.; Marin, O.; Plump, A. S.; Mak, J.; Pleasure, S. J.; Rubenstein, J. L. R.; Tessier-Lavigne, M.: Slit proteins prevent midline crossing and determine the dorsoventral position of major axonal pathways in the mammalian forebrain. Neuron 33: 233-248, 2002.
[0026897]17485.Dallol, A.; Forgacs, E.; Martinez, A.; Sekido, Y.; Walker, R.; Kishida, T.; Rabbitts, P.; Maher, E. R.; Minna, J. D.; Latif, F.: Tumour specific promoter region methylation of the human homologue of the Drosophila Roundabout gene DUTT1 (ROBO1) in human cancers. Oncogene 21: 3020-3028, 2002.
[0026898]17486.Kidd, T.; Brose, K.; Mitchell, K. J.; Fetter, R. D.; Tessier-Lavigne, M.; Goodman, C. S.; Tear, G.: Roundabout controls axon crossing of the CNS midline and defines a novel subfamily of evolutionarily conserved guidance receptors. Cell 92: 205-215, 1998.
[0026899]17487.Sundaresan, V.; Chung, G.; Heppell-Parton, A.; Xiong, J.; Grundy, C.; Roberts, I.; James, L.; Cahn, A.; Bench, A.; Douglas, J.; Minna, J.; Sekido, Y.; Lerman, M.; Latif, F.; Bergh, J.; Li, H.; Lowe, N.; Ogilvie, D.; Rabbitts, P.: Homozygous deletions at 3p12 in breast and lung cancer. Oncogene 17: 1723-1729, 1998.
[0026900]17488.Zallen, J. A.; Yi, B. A.; Bargmann, C. I.: The conserved immunoglobulin superfamily member SAX-3/Robo directs multiple aspects of axon guidance in C. elegans. Cell 92: 217-227, 1998.
[0026901]17489.Faber, P. W.; Barnes, G. T.; Srinidhi, J.; Chen, J.; Gusella, J. F.; MacDonald, M. E.: Huntingtin interacts with a family of WW domain proteins. Hum. Molec. Genet. 7: 1463-1474, 1998.
[0026902]17490.Hattula, K.; Peranen, J.: FIP-2, a coiled-coil protein, links huntingtin to Rab8 and modulates cellular morphogenesis. Curr. Biol. 10: 1603-1606, 2000.
[0026903]17491.Li, Y.; Kang, J.; Horwitz, M. S.: Interaction of an adenovirus E3 14.7-kilodalton protein with a novel tumor necrosis factor alpha-inducible cellular protein containing leucine zipper domains. Molec. Cell. Biol. 18: 1601-1610, 1998.
[0026904]17492.Fischer, U.; Heckel, D.; Michel, A.; Janka, M.; Hulsebos, T.; Meese, E.: Cloning of a novel transcription factor-like gene amplified in human glioma including astrocytoma grade I. Hum. Molec. Genet. 6: 1817-1822, 1997.
[0026905]17493.Gracia, E.; Fischer, U.; Elkahloun, A.; Trent, J. M.; Meese, E.; Meltzer, P. S.: Isolation of genes amplified in human cancers by microdissection mediated cDNA capture. Hum. Molec. Genet. 5: 595-600, 1996.
[0026906]17494.Gerard, M.; Hernandez, L.; Wevrick, R.; Stewart, C. L.: Disruption of the mouse necdin gene results in early post-natal lethality. Nature Genet. 23: 199-202, 1999.
[0026907]17495.Hurst, L. D.; McVean, G.; Moore, T.: Imprinted genes have few and small introns. (Letter) Nature Genet. 12: 234-237, 1996.
[0026908]17496.Jay, P.; Rougeulle, C.; Massacrier, A.; Moncla, A.; Mattei, M.-G.; Malzac, P.; Roeckel, N.; Taviaux, S.; Lefranc, J.-L. B.; Cau, P.; Berta, P.; Lalande, M.; Muscatelli, F.: The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region. Nature Genet. 17: 357-360, 1997.
[0026909]17497.MacDonald, H. R.; Wevrick, R.: The necdin gene is deleted in Prader-Willi syndrome and is imprinted in human and mouse. Hum. Molec. Genet. 6: 1873-1878, 1997.
[0026910]17498.Maruyama, K.; Usami, M.; Aizawa, T.; Yoshikawa, K.: A novel brain-specific mRNA encoding nuclear protein (necdin) expressed in neurally differentiated embryonal carcinoma cells. Biochem. Biophys. Res. Comm. 178: 291-296, 1991.
[0026911]17499.Muscatelli, F.; Abrous, D. N.; Massacrier, A.; Boccaccio, I.; Le Moal, M.; Cau, P.; Cremer, H.: Disruption of the mouse Necdin gene results in hypothalamic and behavioral alterations reminiscent of the human Prader-Willi syndrome. Hum. Molec. Genet. 9: 3101-3110, 2000.
[0026912]17500.Nakada, Y.; Taniura, H.; Uetsuki, T.; Inazawa, J.; Yoshikawa, K. : The human chromosomal gene for necdin, a neuronal growth suppressor, in the Prader-Willi syndrome deletion region. Gene 213: 65-72, 1998.
[0026913]17501.Nicholls, R. D.: Incriminating gene suspects, Prader-Willi style. Nature Genet. 23: 132-134, 1999.
[0026914]17502.Tsai, T.-F.; Armstrong, D.; Beaudet, A. L.: Necdin-deficient mice do not show lethality or the obesity and infertility of Prader-Willi syndrome. (Letter) Nature Genet. 22: 15-16, 1999.
[0026915]17503.Watrin, F.; Roeckel, N.; Lacroix, L.; Mignon, C.; Mattei, M.-G.; Disteche, C.; Muscatelli, F.: The mouse necdin gene is expressed from the paternal allele only and lies in the 7C region of the mouse chromosome 7, a region of conserved synteny to the human Prader-Willi syndrome region. Europ. J. Hum. Genet. 5: 324-332, 1997.
[0026916]17504.Woodage, T.; Basrai, M. A.; Baxevanis, A. D.; Hieter, P.; Collins, F. S.: Characterization of the CHD family of proteins. Proc. Nat. Acad. Sci. 94: 11472-11477, 1997.
[0026917]17505.Seelig, H. P.; Renz, M.; Targoff, I. N.; Ge, Q.; Frank, M. B.: Two forms of the major antigenic protein of the dermatomyositis-specific Mi-2 autoantigen. (Letter) Arthritis Rheum. 39: 1769-1771, 1996.
[0026918]17506.Ernstsson, S.; Betz, R.; Lagercrantz, S.; Larsson, C.; Ericksson, S.; Cederberg, A.; Carlsson, P.; Enerback, S.: Cloning and characterization of freac-9 (FKHL17), a novel kidney-expressed human forkhead gene that maps to chromosome 1p32-p34. Genomics 46: 78-85, 1997.
[0026919]17507.Ozkaynak, E.; Schnegelsberg, P. N. J.; Jin, D. F.; Clifford, G. M.; Warren, F. D.; Drier, E. A.; Oppermann, H.: Osteogenic protein-2: a new member of the transforming growth factor-beta superfamily expressed in early embryogenesis. J. Biol. Chem. 267: 25220-25227, 1992.
[0026920]17508.Kinoh, H.; Hayashita, H.; Kajita, M.; Okada, A.; Seiki, M.: Assignment of the genes for membrane-type-4 matrix metalloproteinase (Mmp17, MMP17) to mouse chromosome 5, human chromosome band 12q24.3 and membrane-type-5 matrix metalloproteinase (Mmp24, MMP24) to mouse chromosome 2 and human chromosome band 20q11.2-q12, respectively, by radiation hybrid and in situ hybridization. Cytogenet. Cell Genet. 87: 97-98, 1999.
[0026921]17509.Bingle, C. D.; Gowan, S.: Molecular cloning of the forkhead transcription factor HNF-3-alpha from a human pulmonary adenocarcinoma cell line. Biochim. Biophys. Acta 1307: 17-20, 1996.
[0026922]17510.Hannigan, G. E.; Bayani, J.; Weksberg, R.; Beatty, B.; Pandita, A.; Dedhar, S.; Squire, J.: Mapping of the gene encoding the integrin-linked kinase, ILK, to human chromosome 11p15.5-p15.4. Genomics 42: 177-179, 1997.
[0026923]17511.Hannigan, G. E.; Leung-Hagesteijn, C.; Fitz-Gibbon, L.; Coppolino, M. G.; Radeva, G.; Filmus, J.; Bell, J. C.; Dedhar, S.: Regulation of cell adhesion and anchorage-dependent growth by a new beta-1-integrin-linked protein kinase. Nature 379: 91-96, 1996.
[0026924]17512.Omeis, I. A.; Hsu, Y.-C.; Perin, M. S.: Mouse and human neuronal pentraxin 1 (NPXT1): conservation, genomic structure, and chromosomal localization. Genomics 36: 543-545, 1996.
[0026925]17513.Kubota, N.; Terauchi, Y.; Miki, H.; Tamemoto, H.; Yamauchi, T.; Komeda, K.; Satoh, S.; Nakano, R.; Ishii, C.; Sugiyama, T.; Eto, K.; Tsubamoto, Y.; and 17 others: PPAR-gamma mediates high-fat diet-induced adipocyte hypertrophy and insulin resistance. Molec. Cell 4: 597-609, 1999.
[0026926]17514.Lapsys, N. M.; Kriketos, A. D.; Lim-Fraser, M.; Poynten, A. M.; Lowy, A.; Furler, S. M.; Chisholm, D. J.; Cooney, G. J.: Expression of genes involved in lipid metabolism correlate with peroxisome proliferator-activated receptor gamma expression in human skeletal muscle. J. Clin. Endocr. Metab. 85: 4293-4297, 2000.
[0026927]17515.Lehmann, J. M.; Moore, L. B.; Smith-Oliver, T. A.; Wilkison, W. O.; Willson, T. M.; Kliewer, S. A.: An antidiabetic thiazolidinedione is a high affinity ligand for peroxisome proliferatoractivated receptor gamma (PPAR gamma). J. Biol. Chem. 270: 12953-12956, 1995.
[0026928]17516.Lowell, B. B.: PPAR-gamma: an essential regulator of adipogenesis and modulator of fat cell function. Cell 99: 239-242, 1999.
[0026929]17517.Martin, G.; Schoonjans, K.; Staels, B.; Auwerx, J.: PPAR-gamma activators improve glucose homeostasis by stimulating fatty acid uptake in the adipocytes. Atherosclerosis 137: S75-S80, 1998.
[0026930]17518.Meirhaeghe, A.; Fajas, L.; Helbecque, N.; Cottel, D.; Lebel, P.; Dallongeville, J.; Deeb, S.; Auwerx, J.; Amouyel, P.: A genetic polymorphism of the peroxisome proliferator-activated receptor gamma gene influences plasma leptin levels in obese tumors. Hum. Molec. Genet. 7: 435-440, 1998.
[0026931]17519.Miles, P. D. G.; Barak, Y.; He, W.; Evans, R. M.; Olefsky, J. M.: Improved insulinsensitivity in mice heterozygous for PPAR-gamma deficiency. J. Clin. Invest. 105: 287-292, 2000.
[0026932]17520.Mueller, E.; Sarraf, P.; Tontonoz, P.; Evans, R. M.; Martin, K. J.; Zhang, M.; Fletcher, C.; Singer, S.; Spiegelman, B. M.: Terminal differentiation of human breast cancer through PPARgamma. Molec. Cell. 1: 465-470, 1998.
[0026933]17521.Mueller, E.; Smith, M.; Sarraf, P.; Kroll, T.; Aiyer, A.; Kaufman, D. S.; Oh, W.; Demetri, G.; Figg, W. D.; Zhou, X.-P.; Eng, C.; Spiegelman, B. M.; Kantoff, P. W.: Effects of ligand activation of peroxisome proliferator-activated receptor gamma in human prostate cancer. Proc. Nat. Acad. Sci. 97: 10990-10995, 2000.
[0026934]17522.Nagy, L.; Tontonoz, P.; Alvarez, J. G. A.; Chen, H.; Evans, R. M.: Oxidized LDL regulates macrophage gene expression through ligand activation of PPAR-gamma. Cell 93: 229-240, 1998.
[0026935]17523.Oh, E. Y.; Min, K. M.; Chung, J. H.; Min, Y.-K.; Lee, M.-S.; Kim, K.-W.; Lee, M.-K.: Significance of pro12ala mutation in peroxisome proliferator-activated receptor-gamma2 in Korean diabetic and obese subjects. J. Clin. Endocr. Metab. 85: 1801-1804, 2000.
[0026936]17524.Pritchard, J. K.; Rosenberg, N. A.: Use of unlinked genetic markers to detect population stratification in association studies. Am. J. Hum. Genet. 65: 220-228, 1999.
[0026937]17525.Ristow, M.; Muller-Wieland, D.; Pfeiffer, A.; Krone, W.; Kahn, C. R.: Obesity associated with a mutation in a genetic regulator of adipocyte differentiation. New Eng. J. Med. 339: 953-959, 1998.
[0026938]17526.Rocchi, S.; Picard, F.; Vamecq, J.; Gelman, L.; Potier, N.; Zeyer, D.; Dubuquoy, L.; Bac, P.; Champy, M.-F.; Plunket, K. D.; Leesnitzer, L. M.; Blanchard, S. G.; Desreumaux, P.; Moras, D.; Renaud, J.-P.; Auwerx, J.: A unique PPAR-gamma ligand with potent insulin-sensitizing yet weak adipogenic activity. Molec. Cell 8: 737-747, 2001.
[0026939]17527.Rosen, E. D.; Sarraf, P.; Troy, A. E.; Bradwin, G.; Moore, K.; Milstone, D. S.; Spiegelman, B. M.; Mortensen, R. M.: PPAR-gamma is required for the differentiation of adipose tissue in vivo and in vitro. Molec. Cell 4: 611-617, 1999.
[0026940]17528.Ricote, M.; Huang, J.; Fajas, L.; Li, A.; Welch, J.; Najib, J.; Witztum, J. L.; Auwerx, J.; Palinski, W.; Glass, C. K.: Expression of the peroxisome proliferator-activated receptor gamma (PPARgamma) in human atherosclerosis and regulation in macrophages by colony stimulating factors and oxidized low density lipoprotein. Proc. Nat. Acad. Sci. 95: 7614-7619, 1998.
[0026941]17529.Savage, D. B.; Agostini, M.; Barroso, I.; Gurnell, M.; Luan, J.; Meirhaeghe, A.; Harding, A.-H.; Ihrke, G.; Rajanayagam, O.; Soos, M. A.; George, S.; Berger, D.; and 9 others: Digenic inheritance of severe insulin resistance in a human pedigree. Nature Genet. 31: 379-384, 2002. Note: Erratum: Nature Genet. 32: 211 only, 2002.
[0026942]17530.Smith, W. M.; Zhou, X.-P.; Kurose, K.; Gao, X.; Latif, F.; Kroll, T.; Sugano, K.; Cannistra, S. A.; Clinton, S. K.; Maher, E. R.; Prior, T. W.; Eng, C.: Opposite association of two PPARG variants with cancer: overrepresentation of H449H in endometrial carcinoma cases and underrepresentation of P12A in renal cell carcinoma cases. Hum. Genet. 109: 146-151, 2001.
[0026943]17531.Tarrade, A.; Schoonjans, K.; Pavan, L.; Auwerx, J.; Rochette-Egly, C.; Evain-Brion, D.; Fournier, T.: PPAR-gamma/RXR-alpha heterodimers control human trophoblast invasion. J. Clin. Endocr. Metab. 86: 5017-5024, 2001.
[0026944]17532.Tontonoz, P.; Hu, E.; Devine, J.; Beale, E. G.; Spiegelman, B. M.: PPAR gamma 2 regulates adipose expression of the phosphoenolpyruvate carboxykinase gene. Molec. Cell. Biol. 15: 351-357, 1995.
[0026945]17533.Tontonoz, P.; Hu, E.; Graves, R. A.; Budavari, A. I.; Spiegelman, B. M.: mPPAR gamma 2: tissue-specific regulator of an adipocyte enhancer. Genes Dev. 8: 1224-1234, 1994.
[0026946]17534.Tontonoz, P.; Nagy, L.; Alvarez, J. G. A.; Thomazy, V. A.; Evans, R. M.: PPARgamma promotes monocyte/macrophage differentiation and uptake of oxidized LDL. Cell 93: 241-252, 1998.
[0026947]17535.Wang, M.: Isolation and characterization of a human gene encoding a single-strandspecific endoribonuclease. Ph.D. Thesis: Stanford Univ. , 1995.
[0026948]17536.Wang, M.; Cohen, S. N.: ard-1: a human gene that reverses the effects of temperaturesensitive and deletion mutations in the Escherichia coli rne gene and encodes an activity producing RNase E-like cleavages. Proc. Nat. Acad. Sci. 91: 10591-10595, 1994.
[0026949]17537.Amendt, B. A.; Sutherland, L. B.; Semina, E. V.; Russo, A. F.: The molecular basis of Rieger syndrome: analysis of PITX2 homeodomain protein activities. J. Biol. Chem. 273: 20066-20072, 1998.
[0026950]17538.Arakawa, H.; Nakamura, T.; Zhadanov, A. B.; Fidanza, V.; Yano, T.; Bullrich, F.; Shimizu, M.; Blechman, J.; Mazo, A.; Canaani, E.; Croce, C. M.: Identification and characterization of the ARP1 gene, a target for the human acute leukemia ALL1 gene. Proc. Nat. Acad. Sci. 95: 4573-4578, 1998.
[0026951]17539.Cushman, L. J.; Camper, S. A.: Molecular basis of pituitary dysfunction in mouse and human. Mammalian Genome 12: 485-494, 2001.
[0026952]17540.Doward, W.; Perveen, R.; Lloyd, I. C.; Ridgway, A. E. A.; Wilson, L.; Black, G. C. M.: A mutation in the RIEG1 gene associated with Peters' anomaly. J. Med. Genet. 36: 152-155, 1999.
[0026953]17541.Flomen, R. H.; Vatcheva, R.; Gorman, P. A.; Baptista, P. R.; Groet, J.; Barisic, I.; Ligutic, I.; Nizetic, D.: Construction and analysis of a sequence-ready map in 4q25: Rieger syndrome can be caused by haploinsufficiency of RIEG, but also by chromosome breaks approximately 90 kb upstream of this gene. Genomics 47: 409-413, 1998.
[0026954]17542.Gage, P. J.; Camper, S. A.: Pituitary homeobox 2, a novel member of the bicoid-related family of homeobox genes, is a potential regulator of anterior structure formation. Hum. Molec. Genet. 6: 457-464, 1997.
[0026955]17543.Kozak, M.: Interpreting cDNA sequences: some insights from studies on translation. Mammalian Genome 7: 563-574, 1996.
[0026956]17544.Kozlowski, K.; Walter, M. A.: Variation in residual PITX2 activity underlies the phenotypic spectrum of anterior segment developmental disorders. Hum. Molec. Genet. 9: 2131-2139, 2000.
[0026957]17545.Lin, C. R.; Kioussi, C.; O'Connell, S.; Briata, P.; Szeto, D.; Liu, F.; Izpisua-Belmonte, J. C.; Rosenfeld, M. G.: Pitx2 regulates lung asymmetry, cardiac positioning and pituitary and tooth morphogenesis. Nature 401: 279-282, 1999.
[0026958]17546.Logan, M.; Pagan-Westphal, S. M.; Smith, D. M.; Paganessi, L.; Tabin, C. J.: The transcription factor Pitx2 mediates situs-specific morphogenesis in response to left-right asymmetric signals. Cell 94: 307-317, 1998.
[0026959]17547.Lu, M.-F.; Pressman, C.; Dyer, R.; Johnson, R. L.; Martin, J. F.: Function of Rieger syndrome gene in left-right asymmetry and craniofacial development. Nature 401: 276-278, 1999.
[0026960]17548.Martin, D. M.; Probst, F. J.; Fox, S. E.; Schimmenti, L. A.; Semina, E. V.; Hefner, M. A.; Belmont, J. W.; Camper, S. A.: Exclusion of PITX2 mutations as a major cause of CHARGE association. Am. J. Med. Genet. 111: 27-30, 2002.
[0026961]17549.Pellegrini-Bouiller, I.; Manrique, C.; Gunz, G.; Grino, M.; Zamora, A. J.; Figarella-Branger, D.; Grisoli, F.; Jaquet, P.; Enjalbert, A.: Expression of the members of the Ptx family of transcription factors in human pituitary adenomas. J. Clin. Endocr. Metab. 84: 2212-2220, 1999.
[0026962]17550.Piedra, M. E.; Icardo, J. M.; Albajar, M.; Rodriguez-Rey, J. C.; Ros, M. A.: Pitx2 participates in the late phase of the pathway controlling left-right asymmetry. Cell 94: 319-324, 1998.
[0026963]17551.Priston, M.; Kozlowski, K.; Gill, D.; Letwin, K.; Buys, Y.; Levin, A. V.; Walter, M. A.; Heon, E.: Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome. Hum. Molec. Genet. 10: 1631-1638, 2001.
[0026964]17552.Bayever, E.; Ladisch, S.; Philippart, M.; Brill, N.; Nuwer, M.; Sparkes, R. S.; Feig, S. A.: Bone-marrow transplantation for metachromatic leucodystrophy. Lancet II: 471-473, 1985.
[0026965]17553.Beratis, N. G.; Danesino, C.; Hirschhorn, K.: Detection of homozygotes and heterozygotes for metachromatic leukodystrophy in lymphoid cell lines and peripheral leukocytes. Ann. Hum. Genet. 38: 485-493, 1975.
[0026966]17554.Berger, J.; Gmach, M.; Mayr, U.; Molzer, B.; Bernheimer, H.: Coincidence of two novel arylsulfatase A alleles and mutation 459+1G-A within a family with metachromatic leukodystrophy: molecular basis of phenotypic heterogeneity. Hum. Mutat. 13: 61-68, 1999.
[0026967]17555.Betts, T. A.; Smith, W. T.; Kelly, R. E.: Adult metachromatic leukodystrophy (sulphatide lipidosis) simulating acute schizophrenia: report of a case. Neurology 18: 1140-1142, 1968.
[0026968]17556.Black, J. W.; Cumings, J. N.: Infantile metachromatic leukodystrophy. J. Neurol. Neurosurg. Psychiat. 24: 233-239, 1961.
[0026969]17557.Bohne, W.; von Figura, K.; Gieselmann, V.: An 11-bp deletion in the arylsulfatase A gene of a patient with late infantile metachromatic leukodystrophy. Hum. Genet. 87: 155-158, 1991.
[0026970]17558.Bosch, E. P.; Hart, M. N.: Late adult-onset metachromatic leukodystrophy: dementia and polyneuropathy in a 63-year-old man. Arch. Neurol. 35: 475-477, 1978.
[0026971]17559.Bruns, G. A. P.; Mintz, B. J.; Leary, A. C.; Regina, V. M.; Gerald, P. S.: Expression of human arylsulfatase A in man-hamster somatic cell hybrids. Cytogenet. Cell Genet. 22: 182-185, 1978.
[0026972]17560.Butterworth, J.; Broadhead, D. M.; Keay, A. J.: Low arylsulphatase A activity in a family without metachromatic leukodystrophy. Clin. Genet. 14: 213-218, 1978.
[0026973]17561.Caillaud, C.; Blanchor, C.; Akli, S.; Crosnier, J. M.; Puech, J. P.; Kahn, A.; Poenaru, L.: Molecular basis of late infantile metachromatic leukodystrophy in France. (Abstract) ESGLD Workshop Delphi, and Greece, and Oct, 1993.
[0026974]17562.Chabas, A.; Castellvi, S.; Bayes, M.; Balcells, S.; Grinberg, D.; Vilageliu, L.; Marfany, G.; Lissens, W.; Gonzalez-Duarte, R.: Frequency of the arylsulphatase A pseudodeficiency allele in the Spanish population. Clin. Genet. 44: 320-323, 1993.
[0026975]17563.Chang, P. L.; Davidson, R. G.: Pseudo arylsulfatase-A deficiency in healthy individuals: genetic and biochemical relationship to metachromatic leukodystrophy. Proc. Nat. Acad. Sci. 80: 7323-7327, 1983.
[0026976]17564.Chang, P. L.; Davidson, R. G.: Complementation of arylsulfatase A in somatic hybrids of metachromatic leukodystrophy and multiple sulfatase deficiency disorder fibroblasts. Proc. Nat. Acad. Sci. 77: 6166-6170, 1980.
[0026977]17565.Chang, P. L.; Rosa, N. E.; Davidson, R. G.: Somatic cell hybridization studies on the genetic regulation and allelic mutations in metachromatic leukodystrophy. Hum. Genet. 61: 231-235, 1982.
[0026978]17566.Coulter-Mackie, M. B.; Rip, J.; Ludman, M. D.; Beis, J.; Cole, D. E. C.: Metachromatic leucodystrophy (MLD) in a patient with a constitutional ring chromosome 22. J. Med. Genet. 32: 787-791, 1995.
[0026979]17567.Cravioto, H.; O'Brien, J.; Lockwood, R.; Kasten, F. H.; Booker, J.: Metachromatic leukodystrophy (sulfatide lipidoses) cultured in vitro. Science 156: 243-245, 1967.
[0026980]17568.DeLuca, C.; Brown, J. A.; Shows, T. B.: Lysosomal arylsulfatase deficiencies in humans: chromosome assignment of arylsulfatase A and B. Proc. Nat. Acad. Sci. 76: 1957-1961, 1979.
[0026981]17569.DeLuca, C.; Champion, M. J.; Shows, T. B.: Arylsulfatase-A (ARSA) synteny with beta-glucuronidase (BGUS) indicates assignment to human chromosome 7 in man-Chinese hamster hybrids. (Abstract) Winnipeg Gene Mapping Conf. , 1977.
[0026982]17570.Draghia, R.; Letourneur, F.; Drugan, C.; Manicom, J.; Blanchot, C.; Kahn, A.; Poenaru, L.; Caillaud, C.: Metachromic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase gene. Hum. Mutat. 9: 234-242, 1997.
[0026983]17571.Dubois, G.; Harzer, K.; Baumann, N.: Very low arylsulfatase A and cerebroside sulfatase activities in leukocytes of healthy members of metachromatic leukodystrophy family. Am. J. Hum. Genet. 29: 191-194, 1977.
[0026984]17572.Eto, Y.; Tahara, T.; Koda, N.; Yamaguchi, S.; Ito, F.; Okuno, A.: Prenatal diagnosis of metachromatic leukodystrophy: a diagnosis by amniotic fluid and its confirmation. Arch. Neurol. 39: 29-32, 1982.
[0026985]17573.Farrell, D. F.: Heterozygote detection in MLD: allelic mutations at the ARA locus. Hum. Genet. 59: 129-134, 1981.
[0026986]17574.Farrell, D. F.; MacMartin, M. P.; Clark, A. F.: Multiple molecular forms of arylsulfatase A in different forms of metachromatic leukodystrophy (MLD). Neurology 29: 16-20, 1979.
[0026987]17575.Felice, K. J.; Gomez Lira, M.; Natowicz, M.; Grunnet, M. L.; Tsongalis, G. J.; Sima, A. A. F.; Kaplan, R. F.: Adult-onset MLD: a gene mutation with isolated polyneuropathy. Neurology 55: 1036-1039, 2000.
[0026988]17576.Fluharty, A. L.; Fluharty, C. B.; Bohne, W.; von Figura, K.; Gieselmann, V.: Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient. Am. J. Hum. Genet. 49: 1340-1350, 1991.
[0026989]17577.Francke, U.; Tetri, P.; Taggart, R. T.; Oliver, N.: Conserved autosomal syntenic group on mouse (MMU) chromosome 15 and human (HSA) chromosome 22: assignment of a gene for arylsulfatase A to MMU 15 and regional mapping of DIA1, ARSA, and ACO2 on HSA22. Cytogenet. Cell Genet. 31: 58-69, 1981.
[0026990]17578.Geurts van Kessel, A. H. M.; Westerveld, A.; de Groot, P. G.; Meera Khan, P.; Hagemeijer, A.: Regional localization of the genes coding for human ACO2, ARSA, and NAGA on chromosome 22. Cytogenet. Cell Genet. 28: 169-172, 1980.
[0026991]17579.Gieselmann, V.: An assay for the rapid detection of the arylsulfatase A pseudodeficiency allele facilitates diagnosis and genetic counseling for metachromatic leukodystrophy. Hum. Genet. 86: 251-255, 1991.
[0026992]17580.Gieselmann, V.; Fluharty, A. L.; Tonnesen, T.; Von Figura, K. : Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy. Am. J. Hum. Genet. 49: 407-413, 1991.
[0026993]17581.Gieselmann, V.; Polten, A.; Kreysing, J.; von Figura, K.: Arylsulfatase A pseudodeficiency: loss of a polyadenylylation (sic) signal and N-glycosylation site. Proc. Nat. Acad. Sci. 86: 9436-9440, 1989.
[0026994]17582.Gieselmann, V.; Zlotogora, J.; Harris, A.; Wenger, D. A.; Morris, C. P.: Molecular genetics of metachromatic leukodystrophy. Hum. Mutat. 4: 233-242, 1994.
[0026995]17583.Goebel, H. H.; Pilz, H.; Argyrakis, A.: Adult metachromatic leukodystrophy. II. Ultrastructural findings in peripheral nerve and skeletal muscle. Europ. Neurol. 15: 308-317, 1977.
[0026996]17584.Beck, M.; Glossl, J.; Grubisic, A.; Spranger, J.: Heterogeneity of Morquio disease. Clin. Genet. 29: 325-331, 1986.
[0026997]17585.Maroteaux, P.; Stanescu, V.; Stanescu, R.; Kresse, H.; Hors-Cayla, M. C.: Heterogeneite des formes frustes de la maladie de Morquio. Arch. Franc. Pediat. 39: 761-765, 1982.
[0026998]17586.Saunders, M.; Sweetman, L.; Robinson, B.; Roth, K.; Kohn, S.; Sherwood, G.; Gravel, R.: Multiple carboxylase defects and complementation studies in biotin responsive organicaciduria. (Abstract) Am. J. Hum. Genet. 31: 61A, 1979.
[0026999]17587.Saunders, M. E.; Sherwood, W. G.; Duthie, M.; Surh, L.; Gravel, R. A.: Evidence for a defect of holocarboxylase synthetase activity in cultured lymphoblasts from a patient with biotinresponsive multiple carboxylase deficiency. Am. J. Hum. Genet. 34: 590-601, 1982.
[0027000]17588.Suormala, T.; Fowler, B.; Duran, M.; Burtscher, A.; Fuchshuber, A.; Tratzmuller, R.; Lenze, M. J.; Raab, K.; Baur, B.; Wick, H.; Baumgartner, R.: Five patients with a biotin-responsive defect in holocarboxylase formation: evaluation of responsiveness to biotin therapy in vivo and comparative biochemical studies in vitro. Pediat. Res. 41: 666-673, 1997.
[0027001]17589.Suzuki, Y.; Aoki, Y.; Ishida, Y.; Chiba, Y.; Iwamatsu, A.; Kishino, T.; Niikawa, N.; Matsubara, Y.; Narisawa, K.: Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA. Nature Genet. 8: 122-128, 1994.
[0027002]17590.Sweetman, L.; Surh, L.; Baker, H.; Peterson, R. M.; Nyhan, W. L.: Clinical and metabolic abnormalities in a boy with dietary deficiency of biotin. Pediatrics 68: 553-558, 1981.
[0027003]17591.Thoene, J.; Baker, H.; Yoshino, M.; Sweetman, L.: Biotin-responsive carboxylase deficiency associated with subnormal plasma and urinary biotin. New Eng. J. Med. 304: 817-820, 1981.
[0027004]17592.Thoene, J.; Sweetman, L.; Yoshino, M.: Biotin-responsive multiple carboxylase deficiency. (Abstract) Am. J. Hum. Genet. 31: 64A, 1979.
[0027005]17593.Wolf, B.; Grier, R. E.; Parker, W. D.; Goodman, S. I.; Allen, R. J.: Deficient biotinidase activity in late-onset multiple carboxylase deficiency. (Letter) New Eng. J. Med. 308: 161, 1983.
[0027006]17594.Yang, X.; Aoki, Y.; Li, X.; Sakamoto, O.; Hiratsuka, M.; Gibson, K. M.; Kure, S.; Narisawa, K.; Matsubara, Y.; Suzuki, Y.: Haplotype analysis suggests that the two predominant mutations in Japanese patients with holocarboxylase synthetase deficiency are founder mutations. J. Hum. Genet. 45: 358-362, 2000.
[0027007]17595.Yang, X.; Aoki, Y.; Li, X.; Sakamoto, O.; Hiratsuka, M.; Kure, S.; Taheri, S.; Christensen, E.; Inui, K.; Kubota, M.; Ohira, M.; Ohki, M.; and 10 others: Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency. Hum. Genet. 109: 526-534, 2001.
[0027008]17596.Zhang, X. X.; Leon-Del-Rio, A.; Gravel, R. A.; Eydoux, P.: Assignment of holocarboxylase synthetase gene (HLCS) to human chromosome band 21q22.1 and to mouse chromosome band 16C4 by in situ hybridization. Cytogenet. Cell Genet. 76: 179 only, 1997.
[0027009]17597.Mangos, J. A.; Opitz, J. M.; Lobeck, C. C.; Cookson, D. V.: Familial juvenile nephronophthisis: an unrecognized renal disease in the United States. Pediatrics 34: 337-345, 1964.
[0027010]17598.McKusick, V. A.: Mendelian Inheritance in Man. A Catalog of Human Genes and Genetic Disorders. (12th ed.) Baltimore: Johns Hopkins Univ. Press , 1998. Pp. l only. Note: Table 15.
[0027011]17599.Medhioub, M.; Cherif, D.; Benessy, F.; Silbermann, F.; Gubler, M. C.; Le Paslier, D.; Cohen, D.; Weissenbach, J.; Beckmann, J.; Antignac, C.: Refined mapping of a gene (NPH1) causing familial juvenile nephronophthisis and evidence for genetic heterogeneity. Genomics 22: 296-301, 1994.
[0027012]17600.Meier, D. A.; Hess, J. W.: Familial nephropathy with retinitis pigmentosa: a new oculorenal syndrome in adults. Am. J. Med. 39: 58-69, 1965.
[0027013]17601.Mongeau, J. G.; Worthen, H. G.: Nephronophthisis and medullary cystic disease. Am. J. Med. 43: 345-355, 1967.
[0027014]17602.Saunier, S.; Calado, J.; Benessy, F.; Silbermann, F.; Heilig, R.; Weissenbach, J.; Antignac, C.: Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis. Am. J. Hum. Genet. 66: 778-789, 2000.
[0027015]17603.Saunier, S.; Calado, J.; Heilig, R.; Silbermann, F.; Benessy, F.; Morin, G.; Konrad, M.; Broyer, M.; Gubler, M.-C.; Weissenbach, J.; Antignac, C.: A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis. Hum. Molec. Genet. 6: 2317-2323, 1997.
[0027016]17604.Sherman, F. E.; Studnicki, F. M.; Fetterman, G. H.: Renal lesions of familial juvenile nephronophthisis examined by microdissection. Am. J. Clin. Path. 55: 391-400, 1971.
[0027017]17605.Simon, E. A.; Cook, S.; Davisson, M. T.; D'Eustachio, P.; Guay-Woodford, L. M.: The mouse congenital polycystic kidney (cpk) locus maps within 1.3 cM of the chromosome 12 marker D12Nyu2. Genomics 21: 415-418, 1994.
[0027018]17606.Steele, B. T.; Lirenman, D. S.; Beattie, G. W.: Nephronophthisis. Am. J. Med. 68: 531-538, 1980.
[0027019]17607.Strauss, M. B.; Sommers, S. C.: Medullary cystic disease and familial juvenile nephronophthisis: clinical and pathological identity. New Eng. J. Med. 277: 863-864, 1967.
[0027020]17608.Sworn, M. J.; Eisinger, A. J.: Medullary cystic disease and juvenile nephronophthisis in separate members of the same family. Arch. Dis. Child. 47: 278-281, 1972.
[0027021]17609.Von Sydow, G.; Ranstrom, S.: Familial juvenile nephronophthisis. Acta Paediat. 51: 561-574, 1962.
[0027022]17610.Waldherr, R.; Lennert, T.; Weber, H. P.; Fodisch, H. J.; Scharer, K.: The nephronophthisis complex: a clinicopathologic study in children. Virchows Arch. A Path. Anat. Histol. 394: 235-254, 1982.
[0027023]17611.Bolk, S.; Puffenberger, E. G.; Hudson, J.; Morton, D. H.; Chakravarti, A.: Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the Old Order Mennonites. (Letter) Am. J. Hum. Genet. 65: 1785-1790, 1999.
[0027024]17612.Anikster, Y.; Kleta, R.; Shaag, A.; Gahl, W. A.; Elpeleg, O.: Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. Am. J. Hum. Genet. 69: 1218-1224, 2001.
[0027025]17613.Bourdon, V.; Philippe, C.; Labrune, O.; Amsallem, D.; Arnould, C.; Jonveaux, P.: A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients. Hum. Genet. 108: 43-50, 2001.
[0027026]17614.Brinke, A.; Green, P. M.; Giannelli, F.: Characterization of the gene (VBP1) and transcript for the von Hippel-Lindau binding protein and isolation of the highly conserved murine homologue. Genomics 45: 105-112, 1997.
[0027027]17615.Brinke, A.; Tagliavacca, L.; Naylor, J.; Green, P.; Giangrande, P.; Giannelli, F.: Two chimaeric transcription units result from an inversion breaking intron 1 of the factor VIII gene and a region reportedly affected by reciprocal translocations in T-cell leukaemia. Hum. Molec. Genet. 5: 1945-1951, 1996.
[0027028]17616.Clifford, S. C.; Walsh, S.; Hewson, K.; Green, E. K.; Brinke, A.; Green, P. M.; Gianelli, F.; Eng, C.; Maher, E. R.: Genomic organization and chromosomal localization of the human CUL2 gene and the role of von Hippel-Lindau tumor suppressor-binding protein (CUL2 and VBP1) mutation and loss in renal-cell carcinoma development. Genes Chromosomes Cancer 26: 20-28, 1999.
[0027029]17617.Hemberger, M.; Himmelbauer, H.; Neumann, H. P. H.; Plate, K. H.; Schwarzkopf, G.; Fundele, R.: Expression of the von Hippel-Lindau-binding protein-1 (Vbp1) in fetal and adult mouse tissues. Hum. Molec. Genet. 8: 229-236, 1999.
[0027030]17618.Tsuchiya, H.; Iseda, T.; Hino, O.: Identification of a novel protein (VBP-1) binding to the von Hippel-Lindau (VHL) tumor suppressor gene product. Cancer Res. 56: 2881-2885, 1996.
[0027031]17619.Aoyama, T.; Tsushima, K.; Souri, M.; Kamijo, T.; Suzuki, Y.; Shimozawa, N.; Orii, T.; Hashimoto, T.: Molecular cloning and functional expression of a human peroxisomal acyl-coenzyme A oxidase. Biochem. Biophys. Res. Commun. 198: 1113-1118, 1994.
[0027032]17620.Fan, C.-Y.; Pan, J.; Chu, R.; Lee, D.; Kluckman, K. D.; Usuda, N.; Singh, I.; Yeldandi, A. V.; Rao, M. S.; Maeda, N.; Reddy, J. K. : Hepatocellular and hepatic peroxisomal alterations in mice with a disrupted peroxisomal fatty acyl-coenzyme A oxidase gene. J. Biol. Chem. 271: 24698-24710, 1996.
[0027033]17621.Fournier, B.; Saudubray, J.-M.; Benichou, B.; Lyonnet, S.; Munnich, A.; Clevers, H.; Poll-The, B. T.: Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophy. J. Clin. Invest. 94: 526-531, 1994.
[0027034]17622.Goldfischer, S. L.; Collins, J.; Rapin, I.; Neumann, P.; Neglia, W.; Spiro, A. J.; Ishii, T.; Roels, F.; Vamecq, F.; Vamecq, J.; Van Hoof, F.: Deficiencies in several peroxisomal oxidative activities. J. Pediat. 108: 25-32, 1986.
[0027035]17623.Moghrabi, N. N.; Dawson, D. B.; Bennett, M. J.: Assignment of the human peroxisomal palmitoyl-CoA oxidase gene to chromosome 17q23-qter by PCR technique. J. Inherit. Metab. Dis. 18: 705-709, 1995.
[0027036]17624.Naidu, S.; Hoefler, G.; Watkins, P. A.; Chen, W. W.; Moser, A. B.; Hoefler, S.; Rance, N. E.; Powers, J. M.; Beard, M.; Green, W. R.; Hashimoto, T.; Moser, H. W.: Neonatal seizures and retardation in a female with biochemical features of X-linked adrenoleukodystrophy: a possible new peroxisomal disease entity. Neurology 38: 1100-1107, 1988.
[0027037]17625.Poll-The, B. T.; Roels, F.; Ogier, H.; Scotto, J.; Vamecq, J.; Schutgens, R. B. H.; Wanders, R. J. A.; van Roermund, C. W. T.; van Wiljand, M. J. A.; Schram, A. W.; Tager, J. M.; Saudubray, J.-M.: A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy). Am. J. Hum. Genet. 42: 422-434, 1988.
[0027038]17626.Reddy, J. K.; Rao, M. S.: Peroxisome proliferators and cancer: mechanisms and implications. Trends Pharm. Sci. 7: 438-443, 1986.
[0027039]17627.Varanasi, U.; Chu, R.; Chu, S.; Espinosa, R.; LeBeau, M. M.; Reddy, J. K.: Isolation of the human peroxisomal acyl-CoA oxidase gene: organization, promoter analysis, and chromosomal localization. Proc. Nat. Acad. Sci. 91: 3107-3111, 1994.
[0027040]17628.Watkins, P. A.; McGuinness, M. C.; Raymond, G. V.; Hicks, B. A.; Sisk, J. M.; Moser, A. B.; Moser, H. W.: Distinction between peroxisomal bifunctional enzyme and acyl-CoA oxidase deficiencies. Ann. Neurol. 38: 472-477, 1995.
[0027041]17629.Buyse, I. M.; Fang, P.; Hoon, K. T.; Amir, R. E.; Zoghbi, H. Y.; Roa, B. B.: Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms. Am. J. Hum. Genet. 67: 1428-1436, 2000.
[0027042]17630.Cheadle, J. P.; Gill, H.; Fleming, N.; Maynard, J.; Kerr, A.; Leonard, H.; Krawczak, M.; Cooper, D. N.; Lynch, S.; Thomas, N.; Hughes, H.; Hulten, M.; Ravine, D.; Sampson, J. R.; Clarke, A.: Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. Hum. Molec. Genet. 9: 1119-1129, 2000.
[0027043]17631.Chen, R. Z.; Akbarian, S.; Tudor, M.; Jaenisch, R.: Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice. Nature Genet. 27: 327-331, 2001.
[0027044]17632.Claes, S.; Devriendt, K.; D'Adamo, P.; Meireleire, J.; Raeymaekers, P.; Toniolo, D.; Cassiman, J.-J.; Fryns, J.-P.: X-linked severe mental retardation and a progressive neurological disorder in a Belgian family: clinical and genetic studies. Clin. Genet. 52: 155-161, 1997.
[0027045]17633.Clayton-Smith, J.; Watson, P.; Ramsden, S.; Black, G. C. M.: Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males. Lancet 356: 830-832, 2000.
[0027046]17634.Couvert, P.; Bienvenu, T.; Aquaviva, C.; Poirier, K.; Moraine, C.; Gendrot, C.; Verloes, A.; Andres, C.; Le Fevre, A. C.; Souville, I.; Steffann, J.; des Portes, V.; Ropers, H.-H.; Yntema, H. G.; Fryns, J.-P.; Briault, S.; Chelly, J.; Cherif, B.: MECP2 is highly mutated in X-linked mental retardation. Hum. Molec. Genet. 10: 941-946, 2001.
[0027047]17635.D'Esposito, M.; Quaderi, N. A.; Ciccodicola, A.; Bruni, P.; Esposito, T.; D'Urso, M.; Brown, S. D. M.: Isolation, physical mapping, and Northern analysis of the X-linked human gene encoding methyl CpG-binding protein, MECP2. Mammalian Genome 7: 533-535, 1996.
[0027048]17636.De Bona, C.; Zappella, M.; Hayek, G.; Meloni, I.; Vitelli, F.; Bruttini, M.; Cusano, R.; Loffredo, P.; Longo, I.; Renieri, A.: Preserved speech variant is allelic of classic Rett syndrome. Europ. J. Hum. Genet. 8: 325-330, 2000.
[0027049]17637.Dragich, J.; Houwink-Manville, I.; Schanen, C.: Rett syndrome: a surprising result of mutation in MECP2. Hum. Molec. Genet. 9: 2365-2375, 2000.
[0027050]17638.Gendrot, C.; Ronce, N.; Raynaud, M.; Ayrault, A.-D.; Dourlens, J.; Castelnau, P.; Muh, J.-P.; Chelly, J.; Moraine, C.: X-linked nonspecific mental retardation (MRX16) mapping to distal Xq28: linkage study and neuropsychological data in a large family. Am. J. Med. Genet. 83: 411-418, 1999.
[0027051]17639.Guy, J.; Hendrich, B.; Holmes, M.; Martin, J. E.; Bird, A.: A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome. Nature Genet. 27: 322-326, 2001.
[0027052]17640.Hagberg, B.: Rett's syndrome: prevalence and impact on progressive severe mental retardation in girls. Acta Pediat. Scand. 74: 405-408, 1985.
[0027053]17641.Heilstedt, H. A.; Shahbazian, M. D.; Lee, B.: Infantile hypotonia as a presentation of Rett syndrome. Am. J. Med. Genet. 111: 238-242, 2002.
[0027054]17642.Hoffbuhr, K.; Devaney, J. M.; LaFleur, B.; Sirianni, N.; Scacheri, C.; Giron, J.; Schuette, J.; Innis, J.; Marino, M.; Philippart, M.; Narayanan, V.; Umansky, R.; Kronn, D.; Hoffman, E. P.; Naidu, S.: MeCP2 mutations in children with and without the phenotype of Rett syndrome. Neurology 56: 1486-1495, 2001.
[0027055]17643.Huppke, P.; Laccone, F.; Kramer, N.; Engel, W.; Hanefeld, F.: Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. Hum. Molec. Genet. 9: 1369-1375, 2000.
[0027056]17644.Imessaoudene, B.; Bonnefont, J.-P.; Royer, G.; Cormier-Daire, V.; Lyonnet, S.; Lyon, G.; Munnich, A.; Amiel, J.: MECP2 mutation in non-fatal, non-progressive encephalopathy in a male. J. Med. Genet. 38: 171-174, 2001.
[0027057]17645.Jones, P. L.; Veenstra, G. J. C.; Wade, P. A.; Vermaak, D.; Kass, S. U.; Landsberger, N.; Strouboulis, J.; Wolffe, A. P.: Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription. Nature Genet. 19: 187-191, 1998.
[0027058]17646.Klauck, S. M.; Lindsay, S.; Beyer, K. S.; Splitt, M.; Burn, J.; Poustka, A.: A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome. Am. J. Hum. Genet. 70: 1034-1037, 2002.
[0027059]17647.Kleefstra, T.; Yntema, H. G.; Oudakker, A. R.; Romein, T.; Sistermans, E.; Nillessen, W.; van Bokhoven, H.; de Vries, B. B. A.; Hamel, B. C. J.: De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia. Clin. Genet. 61: 359-362, 2002.
[0027060]17648.LaSalle, J. M.; Goldstine, J.; Balmer, D.; Greco, C. M.: Quantitative localization of heterogeneous methyl-CpG-binding protein 2 (MeCP2) expression phenotypes in normal and Rett syndrome brain by laser scanning cytometry. Hum. Molec. Genet. 10: 1729-1740, 2001.
[0027061]17649.Lewis, J. D.; Meehan, R. R.; Henzel, W. J.; Maurer-Fogy, I.; Jeppesen, P.; Klein, F.; Bird, A.: Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA. Cell 69: 905-914, 1992.
[0027062]17650.Meloni, I.; Bruttini, M.; Longo, I.; Mari, F.; Rizzolio, F.; D'Adamo, P.; Denvriendt, K.; Fryns, J.-P.; Toniolo, D.; Renieri, A.: A mutation in the Rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. Am. J. Hum. Genet. 67: 982-985, 2000. Note: Erratum: Am. J. Hum. Genet. 67: 1365 only, 2000.
[0027063]17651.Moncla, A.; Kpebe, A.; Missirian, C.; Mancini, J.; Villard, L. : Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling. Europ. J. Hum. Genet. 10: 86-89, 2002.
[0027064]17652.Nan, X.; Campoy, F. J.; Bird, A.: MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin. Cell 88: 471-481, 1997.
[0027065]17653.Reuber, B. E.; Germain-Lee, E.; Collins, C. S.; Morrell, J. C.; Ameritunga, R.; Moser, H. W.; Valle, D.; Gould, S. J.: Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. Nature Genet. 17: 445-448, 1997.
[0027066]17654.Corbaz, A.; ten Hove, T.; Herren, S.; Graber, P.; Schwartsburd, B.; Belzer, I.; Harrison, J.; Plitz, T.; Kosco-Vilbois, M. H.; Kim, S.-H.; Dinarello, C. A.; Novick, D.; van Deventer, S.; Chvatchko, Y.: IL-18-binding protein expression by endothelial cells and macrophages is up-regulated during active Crohn's disease. J. Immun. 168: 3608-3616, 2002.
[0027067]17655.Turner, N.; Mason, P. J.; Brown, R.; Fox, M.; Povey, S.; Rees, A.; Pusey, C. D.: Molecular cloning of the human Goodpasture antigen demonstrates it to be the alpha-3 chain of type IV collagen. J. Clin. Invest. 89: 592-601, 1992.
[0027068]17656.Alexander, R. W.: Hypertension and the pathogenesis of atherosclerosis. Oxidative stress and the mediation of arterial inflammatory response: a new perspective. Hypertension 25: 155-161, 1995.
[0027069]17657.Bu-Ghanim, H. N.; Casimir, C. M.; Povey, S.; Segal, A. W.: The alpha subunit of cytochrome b(-245) mapped to chromosome 16. Genomics 8: 568-570, 1990.
[0027070]17658.Clark, R. A.; Malech, H. L.; Gallin, J. I.; Nunoi, H.; Volpp, B. D.; Pearson, D. W.; Nauseef, W. M.; Curnutte, J. T.: Genetic variants of chronic granulomatous disease: prevalence of deficiencies of two cytosolic components of the NADPH oxidase system. New Eng. J. Med. 321: 647-652, 1989.
[0027071]17659.Abbott, M. H.; Folstein, S. E.; Abbey, H.; Pyeritz, R. E.: Psychiatric manifestations of homocystinuria due to cystathionine beta-synthase deficiency: prevalence, natural history, and relationship to neurologic impairment and vitamin B(6)-responsiveness. Am. J. Med. Genet. 26: 959-969, 1987.
[0027072]17660.Almgren, B.; Eriksson, H.; Hemmingsson, A.; Hillerdal, G.; Larsson, E.; Aberg, H.: Abdominal aortic aneurysm in homocystinuria. Acta Chir. Scand. 144: 545-546, 1978.
[0027073]17661.Aral, B.; Coude, M.; London, J.; Aupetit, J.; Chasse, J.-F.; Zabot, M.-T.; Chadefaux-Vekemans, B.; Kamoun, P.: Two novel mutations (K384E and L539S) in the C-terminal moiety of the cystathionine beta-synthase protein in two French pyridoxine-responsive homocystinuria patients. Hum. Mutat. 9: 81-82, 1997.
[0027074]17662.Avramopoulos, D.; Cox, T.; Kraus, J. P.; Chakravarti, A.; Antonarakis, S. E.: Linkage mapping of the cystathionine beta-synthase (CBS) gene on human chromosome 21 using a DNA polymorphism in the 3-prime untranslated region. Hum. Genet. 90: 566-568, 1993.
[0027075]17663.Barber, G. W.; Spaeth, G. L.: Pyridoxine therapy in homocystinuria. (Letter) Lancet I: 337 only, 1967.
[0027076]17664.Bass, H. N.; LaGrave, D.; Mardach, R.; Cederbaum, S. D.; Fuster, C. D.; Chetty, M.: Spontaneous pneumothorax in association with pyridoxine-responsive homocystinuria. J. Inherit. Metab. Dis. 20: 831-832, 1997.
[0027077]17665.Boers, G. H. J.; Fowler, B.; Smals, A. G. H.; Trijbels, F. J. M.; Leermakers, A. I.; Kleijer, W. J.; Kloppenborg, P. W. C.: Improved identification of heterozygotes for homocystinuria due to cystathionine synthase deficiency by the combination of methionine loading and enzyme determination in cultured fibroblasts. Hum. Genet. 69: 164-169, 1985.
[0027078]17666.Boers, G. H. J.; Smals, A. G. H.; Trijbels, F. J. M.; Fowler, B.; Bakkeren, J. A. J. M.; Schoonderwaldt, H. C.; Kleijer, W. J.; Kloppenborg, P. W. C.: Heterozygosity for homocystinuria in premature peripheral and cerebral occlusive arterial disease. New Eng. J. Med. 313: 709-715, 1985.
[0027079]17667.Bross, P.; Corydon, T. J.; Andresen, B. S.; Jorgensen, M. M.; Bolund, L.; Gregersen, N.: Protein misfolding and degradation in genetic diseases. Hum. Mutat. 14: 186-198, 1999.
[0027080]17668.Burke, J. P.; O'Keefe, M.; Bowell, R.; Naughten, E. R.: Ocular complications in homocystinuria: early and late treated. Brit. J. Ophthal. 73: 427-431, 1989.
[0027081]17669.Carey, M. C.; Donovan, D. E.; Fitzgerald, O.; McAuley, F. D.: Homocystinuria: a clinical and pathological study of nine subjects in six families. Am. J. Med. 45: 7-25, 1968.
[0027082]17670.Carey, M. C.; Fennelly, J. J.; Fitzgerald, O.: Homocystinuria. II. Subnormal serum folate levels, increased folate clearance and effects of folic acid therapy. Am. J. Med. 45: 26-31, 1968.
[0027083]17671.Carson, N. A. J.; Carre, I. J.: Treatment of homocystinuria with pyridoxine: a preliminary study. Arch. Dis. Child. 44: 387-392, 1969.
[0027084]17672.Carson, N. A. J.; Cusworth, D. C.; Dent, C. E.; Field, C. M. B.; Neill, D. W.; Westall, R. G.: Homocystinuria: a new inborn error of metabolism associated with mental deficiency. Arch. Dis. Child. 38: 425-436, 1963.
[0027085]17673.Carson, N. A. J.; Neill, D. W.: Metabolic abnormalities detected in a survey of mentally backward individuals in Northern Ireland. Arch. Dis. Child. 37: 505-513, 1962.
[0027086]17674.Chadefaux, B.; Rethore, M. O.; Raoul, O.; Ceballos, I.; Poissonnier, M.; Gilgenkrantz, S.; Allard, D.: Cystathionine beta synthase: gene dosage effect in trisomy 21. Biochem. Biophys. Res. Commun. 128: 40-44, 1985.
[0027087]17675.Chao, C.-L.; Tsai, H.-H.; Lee, C.-M.; Hsu, S.-M.; Kao, J.-T.; Chien, K.-L.; Sung, F.-C.; Lee, Y.-T.: The graded effect of hyperhomocysteinemia on the severity and extent of coronary atherosclerosis. Atherosclerosis 147: 379-386, 1999.
[0027088]17676.Hoffmann, M. M.; Jacob, S.; Luft, D.; Schmulling, R.-M.; Rett, K.; Marz, W.; Haring, H.-U.; Matthaei, S.: Type I hyperlipoproteinemia due to a novel loss of function mutation of lipoprotein lipase, cys239-trp, associated with recurrent severe pancreatitis. J. Clin. Endocr. Metab. 85: 4795-4798, 2000.
[0027089]17677.Holt, L. E., Jr.; Aylward, F. X.; Timbers, H. G.: Idiopathic familial lipemia. Bull. Johns Hopkins Hosp. 64: 279-314, 1939.
[0027090]17678.Ishimura-Oka, K.; Faustinella, F.; Kihara, S.; Smith, L. C.; Oka, K.; Chan, L.: A missense mutation (trp86-to-arg) in exon 3 of the lipoprotein lipase gene: a cause of familial chylomicronemia. Am. J. Hum. Genet. 50: 1275-1280, 1992.
[0027091]17679.Kastelein, J. J. P.; Groenemeyer, B. E.; Hallman, D. M.; Henderson, H.; Reymer, P. W. A.; Gagne, S. E.; Jansen, H.; Seidell, J. C.; Kromhout, D.; Jukema, J. W.; Bruschke, A. V. G.; Boerwinkle, E.; Hayden, M. R.; The Regress Study Group: The asn9 variant of lipoprotein lipase is associated with the -93G promoter mutation and an increased risk of coronary artery disease. Clin. Genet. 53: 27-33, 1998.
[0027092]17680.Kirchgessner, T. G.; Chuat, J.-C.; Heinzmann, C.; Etienne, J.; Guilhot, S.; Svenson, K.; Ameis, D.; Pilon, C.; d'Auriol, L.; Andalibi, A.; Schotz, M. C.; Galibert, F.; Lusis, A. J.: Organization of the human lipoprotein lipase gene and evolution of the lipase gene family. Proc. Nat. Acad. Sci. 86: 9647-9651, 1989.
[0027093]17681.Kirchgessner, T. G.; Svenson, K. L.; Lusis, A. J.; Schotz, M. C.: The sequence of cDNA encoding lipoprotein lipase: a member of a lipase gene family. J. Biol. Chem. 262: 8463-8466, 1987.
[0027094]17682.Kobayashi, J.; Nishida, T.; Ameis, D.; Stahnke, G.; Schotz, M. C.; Hashimoto, H.; Fukamachi, I.; Shirai, K.; Saito, Y.; Yoshida, S.: A heterozygous mutation (the codon for ser477 to a stop codon) in lipoprotein lipase contributes to a defect in lipid interface recognition in a case with type I hyperlipidemia. Biochem. Biophys. Res. Commun. 182: 70-77, 1992.
[0027095]17683.Kobayashi, J.; Sasaki, N.; Tashiro, J.; Inadera, H.; Saito, Y.; Yoshida, S.: A missense mutation (ala334-to-thr) in exon 7 of the lipoprotein lipase gene in a case with type I hyperlipidemia. Biochem. Biophys. Res. Commun. 191: 1046-1054, 1993.
[0027096]17684.Langlois, S.; Deeb, S.; Brunzell, J.; Kastelein, J. J.; Hayden, M. R.: A unique insertion accounts for a significant proportion of the mutations in the lipoprotein lipase (LPL) gene.(Abstract) Am. J. Hum. Genet. 43: A191, 1988.
[0027097]17685.Langlois, S.; Deeb, S.; Brunzell, J. D.; Kastelein, J. J.; Hayden, M. R.: A major insertion accounts for a significant proportion of mutations underlying human lipoprotein lipase deficiency. Proc. Nat. Acad. Sci. 86: 948-952, 1989.
[0027098]17686.Levak-Frank, S.; Radner, H.; Walsh, A.; Stollberger, R.; Knipping, G.; Hoefler, G.; Sattler, W.; Weinstock, P. H.; Breslow, J. L.; Zechner, R.: Muscle-specific overexpression of lipoprotein lipase causes a severe myopathy characterized by proliferation of mitochondria and peroxisomes in transgenic mice. J. Clin. Invest. 96: 976-986, 1995.
[0027099]17687.Li, S.; Oka, K.; Galton, D.; Stocks, J.: Pvu-II RFLP at the human lipoprotein lipase (LPL) gene locus. Nucleic Acids Res. 16: 2358, 1988.
[0027100]17688.Lo, J. Y.; Smith, L. C.; Chan, L.: Lipoprotein lipase: role of intramolecular disulfide bonds in enzyme catalysis. Biochem. Biophys. Res. Commun. 206: 266-271, 1995.
[0027101]17689.Ma, Y.; Henderson, H. E.; Julien, P.; Roederer, G.; Brunzell, J.; Hayden, M. R.: A missense mutation (pro-to-leu207) in the human lipoprotein lipase gene is the major cause of type I hyperlipoproteinemia in French Canadians. (Series) Miami Short Reports. Advances in Gene Technology: The Molecular Biology of Human Genetic Disease. New York: IRL Press (pub.) 1: 1991. Pp. 34 only.
[0027102]17690.Ma, Y.; Henderson, H. E.; Ven Murthy, M. R.; Roederer, G.; Monsalve, M. V.; Clarke, L. A.; Normand, T.; Julien, P.; Gagne, C.; Lambert, M.; Davignon, J.; Lupien, P. J.; Brunzell, J.; Hayden, M. R.: A mutation in the human lipoprotein lipase gene as the most common cause of familial chylomicronemia in French Canadians. New Eng. J. Med. 324: 1761-1766, 1991.
[0027103]17691.Ma, Y.; Liu, M.-S.; Chitayat, D.; Bruin, T.; Beisiegel, U.; Benlian, P.; Foubert, L.; De Gennes, J. L.; Funke, H.; Forsythe, I.; Blaichman, S.; Papanikolaou, M.; Erkelens, D. W.; Kastelein, J.; Brunzell, J. D.; Hayden, M. R.: Recurrent missense mutations at the first and second base of codon arg243 in human lipoprotein lipase in patients of different ancestries. Hum. Mutat. 3: 52-58, 1994.
[0027104]17692.Ma, Y.; Liu, M.-S.; Ginzinger, D.; Frohlich, J.; Brunzell, J. D.; Hayden, M. R.: Geneenvironment interaction in the conversion of a mild-to-severe phenotype in a patient homozygous for a ser172-to-cys mutation in the lipoprotein lipase gene. J. Clin. Invest. 91: 1953-1958, 1993.
[0027105]17693.Ma, Y.; Wilson, B. I.; Bijvoet, S.; Henderson, H. E.; Cramb, E.; Roederer, G.; Ven Murthy, M. R.; Julien, P.; Bakker, H. D.; Kastelein, J. J. P.; Brunzell, J. D.; Hayden, M. R.: A missense mutation (asp250-to-asn) in exon 6 of the human lipoprotein lipase gene causes chylomicronemia in patients of different ancestries. Genomics 13: 649-653, 1992.
[0027106]17694.Mattei, M. G.; Etienne, J.; Chuat, J. C.; Nguyen, V. C.; Brault, D.; Bernheim, A.; Galibert, F.: Assignment of the human lipoprotein lipase (LPL) gene to chromosome band 8p22. Cytogenet. Cell Genet. 63: 45-46, 1993.
[0027107]17695.Miesenbock, G.; Holzl, B.; Foger, B.; Brandstatter, E.; Paulweber, B.; Sandhofer, F.; Patsch, J. R.: Heterozygous lipoprotein lipase deficiency due to a missense mutation as the cause of impaired triglyceride tolerance with multiple lipoprotein abnormalities. J. Clin. Invest. 91: 448-455, 1993.
[0027108]17696.Nevin, D. N.; Brunzell, J. D.; Deeb, S. S.: The LPL gene in individuals with familial combined hyperlipidemia and decreased LPL activity. Arteriosclerosis Thromb. 14: 869-873, 1994.
[0027109]17697.Nevin, N. C.; Slack, J.: Hyperlipidaemic xanthomatosis II: mode of inheritance in 55 families with essential hyperlipidaemia and xanthomatosis. J. Med. Genet. 5: 9-28, 1968.
[0027110]17698.Nickerson, D. A.; Taylor, S. L.; Weiss, K. M.; Clark, A. G.; Hutchinson, R. G.; Stengard, J.; Salomaa, V.; Vartiainen, E.; Boerwinkle, E.; Sing, C. F.: DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene. Nature Genet. 19: 233-240, 1998.
[0027111]17699.Jacobson, J. H.; Stephens, G.: Hereditary choroidoretinal degeneration: study of a family including electroretinography and adaptometry. Arch. Ophthal. 67: 321-335, 1962.
[0027112]17700.Jay, M.: Personal Communication. London, England 6/18/1987.
[0027113]17701.Kaplan, J.; Bonneau, D.; Frezal, J.; Munnich, A.; Dufier, J. L. : Clinical and genetic heterogeneity in retinitis pigmentosa. Hum. Genet. 85: 635-642, 1990.
[0027114]17702.Kaplan, J.; Pelet, A.; Martin, C.; Delrieu, O.; Ayme, S.; Bonneau, D.; Briard, M. L.; Hanauer, A.; Larget-Piet, L.; Lefrancois, P.; Michel-Awad, A.; Plauchu, H.; Dufier, J. L.; Frezal, J.; Munnich, A.: Phenotype-genotype correlations in X linked retinitis pigmentosa. J. Med. Genet. 29: 615-623, 1992.
[0027115]17703.Keats, B.; Ott, J.; Conneally, M.: Report of the committee on linkage and gene order. Cytogenet. Cell Genet. 51: 459-502, 1989.
[0027116]17704.Klein, D.; Franceschetti, A.; Hussels, I.; Race, R. R.; Sanger, R.: X-linked retinitis pigmentosa and linkage studies with the Xg blood-groups. Lancet I: 974-975, 1967.
[0027117]17705.Litt, M.; Weleber, R. G.; Lovrien, E. W.; Litt, R. H.; Payne, N.; Murphey, W.; Dubay, C.; Willard, H. F.: A family study of X-linked retinitis pigmentosa. (Abstract) Cytogenet. Cell Genet. 46: 651 only, 1987.
[0027118]17706.McQuarrie, M. D.: Two pedigrees of hereditary blindness in man. J. Genet. 30: 147-153, 1935.
[0027119]17707.Mears, A. J.; Gieser, L.; Yan, D.; Chen, C.; Fahrner, S.; Hiriyanna, S.; Fujita, R.; Jacobson, S. G.; Sieving, P. A.; Swaroop, A.: Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa. (Letter) Am. J. Hum. Genet. 64: 897-900, 1999.
[0027120]17708.Meitinger, T.; Fraser, N. A.; Lorenz, B.; Zrenner, E.; Murken, J.; Craig, I. W.: Linkage of X-linked retinitis pigmentosa to the hypervariable DNA marker M27-beta (DXS255). Hum. Genet. 81: 283-286, 1989.
[0027121]17709.Miano, M. G.; Testa, F.; Filippini, F.; Trujillo, M.; Conte, I.; Lanzara, C.; Millan, J. M.; De Bernardo, C.; Grammatico, B.; Mangino, M.; Torrente, I.; Carrozzo, R.; Simonelli, F.; Rinaldi, E.; Ventruto, V.; D'Urso, M.; Ayuso, C.; Ciccodicola, A.: Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains. Hum. Mutat. 18: 109-119, 2001.
[0027122]17710.Mukai, S.; Dryja, T. P.; Bruns, G. A. P.; Aldridge, J. F.; Berson, E. L.: Linkage between the X-linked retinitis pigmentosa locus and the L1.28 locus. Am. J. Ophthal. 100: 225-229, 1985.
[0027123]17711.Schwahn, U.; Lenzner, S.; Dong, J.; Feil, S.; Hinzmann, B.; van Duijnhoven, G.; Kirschner, R.; Hemberger, M.; Bergen, A. A. B.; Rosenberg, T.; Pinckers, A. J. L. G.; Fundele, R.; Rosenthal, A.; Cremers, F. P. M.; Ropers, H.-H.; Berger, W.: Positional cloning of the gene for X-linked retinitis pigmentosa 2. Nature Genet. 19: 327-332, 1998.
[0027124]17712.Schwahn, U.; Paland, N.; Techritz, S.; Lenzner, S.; Berger, W. : Mutations in the Xlinked RP2 gene cause intracellular misrouting and loss of the protein. Hum. Molec. Genet. 10: 1177-1183, 2001.
[0027125]17713.Sharon, D.; Bruns, G. A. P.; McGee, T. L.; Sandberg, M. A.; Berson, E. L.; Dryja, T. P.: X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function. Invest. Ophthal. Vis. Sci. 41: 2712-2721, 2000.
[0027126]17714.Spence, M. A.; Elston, R. C.; Cederbaum, S. D.: Pedigree analysis to determine the mode of inheritance in a family with retinitis pigmentosa. Clin. Genet. 5: 338-343, 1974.
[0027127]17715.Thiselton, D. L.; Hampson, R. M.; Nayudu, M.; Van Maldergem, L.; Wolf, M. L.; Saha, B. K.; Bhattacharya, S. S.; Hardcastle, A. J.: Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp: a genetically defined 5-cM critical region and exclusion of candidate genes by physical mapping. Genome Res. 6: 1093-1102, 1996.
[0027128]17716.Usher, C. H.: Bowman lecture on a few hereditary eye affections. Trans. Ophthal. Soc. U.K. 55: 164-245, 1935.
[0027129]17717.Waardenburg, P. J.: Das menschliche Auge und seine Erbanlagean. 'S-Gravenhage: Martinus Nijhoff (pub.) 1932.
[0027130]17718.Waardenburg, P. J.; Franceschetti, A.; Klein, D.: Genetics and Ophthalmology. Oxford: Blackwell (pub.) 1: 1961. Pp. 799 only.
[0027131]17719.Warburg, M.; Simonsen, S. E.: Sex-linked recessive retinitis pigmentosa: a preliminary study of the carriers. Acta Ophthal. 46: 494-499, 1968.
[0027132]17720.Wright, A. F.; Bhattacharya, S. S.; Aldred, M. A.; Jay, M.; Carothers, A. D.; Thomas, N. S. T.; Bird, A. C.; Jay, B.; Evans, H. J.: Genetic localisation of the RP2 type of X linked retinitis pigmentosa in a large kindred. J. Med. Genet. 28: 453-457, 1991.
[0027133]17721.Wright, A. F.; Bhattacharya, S. S.; Clayton, J. F.; Dempster, M.; Tippett, P.; McKeown, C. M. E.; Jay, M.; Jay, B.; Bird, A. C. : Linkage relationships between X-linked retinitis pigmentosa and nine short-arm markers: exclusion of the disease locus from Xp21 and localization to between DXS7 and DXS14. Am. J. Hum. Genet. 41: 635-644, 1987.
[0027134]17722.Wright, A. F.; Bhattacharya, S. S.; Clayton, J. F.; Jay, M.; Jay, B.; Bird, A. C.; Evans, H. J.: Linkage relationships about X-linked retinitis pigmentosa (RP2). (Abstract) Cytogenet. Cell Genet. 46: 720 only, 1987.
[0027135]17723.Lahn, B. T.; Page, D. C.: Retroposition of autosomal mRNA yielded testis-specific gene family on human Y chromosome. Nature Genet. 21: 429-433, 1999.
[0027136]17724.Yen, P. H.: A long-range restriction map of deletion interval 6 of the human Y chromosome: a region frequently deleted in azoospermic males. Genomics 54: 5-12, 1998.
[0027137]17725.MacLean, H. E.; Chu, S.; Warne, G. L.; Zajac, J. D.: Related individuals with different androgen receptor gene deletions. J. Clin. Invest. 91: 1123-1128, 1993.
[0027138]17726.Madgar, I.; Green, L.; Kent-First, M.; Weissenberg, R.; Gershoni-Baruch, R.; Goldman, B.; Friedman, E.: Genotyping of Israeli infertile men with idiopathic oligozoospermia. Clin. Genet. 62: 203-207, 2002.
[0027139]17727.Marcelli, M.; Tilley, W. D.; Wilson, C. M.; Griffin, J. E.; Wilson, J. D.; McPhaul, M. J.: Definition of the human androgen receptor gene structure permits the identification of mutations that cause androgen resistance: premature termination of the receptor protein at amino acid residue 588 causes complete androgen resistance. Molec. Endocr. 4: 1105-1116, 1990.
[0027140]17728.Marcelli, M.; Tilley, W. D.; Wilson, C. M.; Wilson, J. D.; Griffin, J. E.; McPhaul, M. J.: A single nucleotide substitution introduces a premature termination codon into the androgen receptor gene of a patient with receptor-negative androgen resistance. J. Clin. Invest. 85: 1522-1528, 1990.
[0027141]17729.Marcelli, M.; Tilley, W. D.; Zoppi, S.; Griffin, J. E.; Wilson, J. D.; McPhaul, M. J.: Androgen resistance associated with a mutation of the androgen receptor at amino acid 772 (arg-to-cys) results from a combination of decreased messenger ribonucleic acid levels and impairment of receptor function. J. Clin. Endocr. 73: 318-325, 1991.
[0027142]17730.McCampbell, A.; Taylor, J. P.; Taye, A. A.; Robitschek, J.; Li, M.; Walcott, J.; Merry, D.; Chai, Y.; Paulson, H.; Sobue, G.; Fischbeck, K. H.: CREB-binding protein sequestration by expanded polyglutamine. Hum. Molec. Genet. 9: 2197-2202, 2000.
[0027143]17731.McPhaul, M. J.; Griffin, J. E.: Male pseudohermaphroditism caused by mutations of the human androgen receptor. J. Clin. Endocr. Metab. 84: 3435-3441, 1999.
[0027144]17732.McPhaul, M. J.; Marcelli, M.; Tilley, W. D.; Griffin, J. E.; Isidro-Gutierrez, R. F.; Wilson, J. D.: Molecular basis of androgen resistance in a family with a qualitative abnormality of the androgen receptor and responsive to high-dose androgen therapy. J. Clin. Invest. 87: 1413-1421, 1991.
[0027145]17733.McPhaul, M. J.; Marcelli, M.; Zoppi, S.; Griffin, J. E.; Wilson, J. D.: Genetic basis of endocrine disease 4: the spectrum of mutations in the androgen receptor gene that causes androgen resistance. J. Clin. Endocr. Metab. 76: 17-23, 1993.
[0027146]17734.McPhaul, M. J.; Marcelli, M.; Zoppi, S.; Wilson, C. M.; Griffin, J. E.; Wilson, J. D.: Mutations in the ligand-binding domain of the androgen receptor gene cluster in two regions of the gene. J. Clin. Invest. 90: 2097-2101, 1992.
[0027147]17735.McPhaul, M. J.; Schweikert, H.-U.; Allman, D. R.: Assessment of androgen receptor function in genital skin fibroblasts using a recombinant adenovirus to deliver an androgen-responsive reporter gene. J. Clin. Endocr. Metab. 82: 1944-1948, 1997.
[0027148]17736.Mifsud, A.; Ramirez, S.; Yong, E. L.: Androgen receptor gene CAG trinucleotide repeats in anovulatory infertility and polycystic ovaries. J. Clin. Endocr. Metab. 85: 3484-3488, 2000.
[0027149]17737.Migeon, B. R.; Brown, T. R.; Axelman, J.; Migeon, C. J.: Studies of the locus for androgen receptor: localization on the human X and evidence for homology with the Tfm locus in the mouse. Proc. Nat. Acad. Sci. 78: 6339-6343, 1981.
[0027150]17738.Mongan, N. P.; Jaaskelainen, J.; Green, K.; Schwabe, J. W.; Shimura, N.; Dattani, M.; Hughes, I. A.: Two de novo mutations in the AR gene cause the complete androgen insensitivity syndrome in a pair of monozygotic twins. J. Clin. Endocr. Metab. 87: 1057-1061, 2002.
[0027151]17739.Mononen, N.; Syrjakoski, K.; Matikainen, M.; Tammela, T. L. J.; Schleutker, J.; Kallioniemi, O.-P.; Trapman, J.; Koivisto, P. A.: Two percent of Finnish prostate cancer patients have a germ-line mutation in the hormone-binding domain of the androgen receptor gene. Cancer Res. 60: 6479-6481, 2000.
[0027152]17740.Murono, K.; Mendonca, B. B.; Arnhold, I. J. P.; Rigon, A. C. M. M.; Migeon, C. J.; Brown, T. R.: Human androgen insensitivity due to point mutations encoding amino acid substitutions in the androgen receptor steroid-binding domain. Hum. Mutat. 6: 152-162, 1995.
[0027153]17741.Nakao, R.; Haji, M.; Yanase, T.; Ogo, A.; Takayanagi, R.; Katsube, T.; Fukumaki, Y.; Nawata, H.: A single amino acid substitution (met786-to-val) in the steroid-binding domain of human androgen receptor leads to complete androgen insensitivity syndrome. J. Clin. Endocr. Metab. 74: 1152-1157, 1992.
[0027154]17742.Newmark, J. R.; Hardy, D. O.; Tonb, D. C.; Carter, B. S.; Epstein, J. I.; Isaacs, W. B.; Brown, T. R.; Barrack, E. R.: Androgen receptor gene mutations in human prostate cancer. Proc. Nat. Acad. Sci. 89: 6319-6323, 1992.
[0027155]17743.Nguyen, D.; Steinberg, S. V.; Rouault, E.; Chagnon, S.; Gottlieb, B.; Pinsky, L.; Trifiro, M.; Mader, S.: A G577R mutation in the human AR P box results in selective decreases in DNA binding and in partial androgen insensitivity syndrome. Molec. Endocr. 15: 1790-1802, 2001.
[0027156]17744.Ohno, S.: The Y-linked antigen locus and the X-linked Tfm locus as major regulatory genes of the mammalian sex determining mechanism. J. Steroid Biochem. 8: 585-592, 1977. 100. Ohno, S.: Simplicity of mammalian regulatory systems inferred by single gene determination of sex phenotypes. Nature 234: 134-137, 1971. 101. Ong, Y. C.; Wong, H. B.; Adaikan, G.; Yong, E. L.: Directed pharmacological therapy of ambiguous genitalia due to an androgen receptor gene mutation. (Letter) Lancet 354: 1444-1445, 1999. 102. Patterson, M. N.; Hughes, I. A.; Gottlieb, B.; Pinsky, L.: The androgen receptor gene mutations database. Nucleic Acids Res. 22: 3560-3562, 1994. 103. Pinsky, L.; Kaufman, M.; Killinger, D. W.; Burko, B.; Shatz, D.; Volpe, R.: Human minimal androgen insensitivity with normal dihydrotestosterone-binding capacity in cultured genital skin fibroblasts: evidence for an androgen-selective qualitative abnormality of the receptor. Am. J. Hum. Genet. 36: 965-978, 1984. 104. Pinsky, L.; Kaufman, M.; Levitsky, L. L.: Partial androgen resistance due to a distinctive qualitative defect of the androgen receptor. Am. J. Med. Genet. 27: 459-466, 1987. 105. Pinsky, L.; Kaufman, M.; Summitt, R. L.: Congenital androgen insensitivity due to a qualitatively abnormal androgen receptor. Am. J. Med. Genet. 10: 91-99, 1981. 106. Pinsky, L.; Trifiro, M.; Sebbaghian, N.; Kaufman, M.; Chang, C.; Trapman, J.; Brinkmann, A. O.; Kuiper, G. G. J. M.; Ris, C. J.; Brown, C. J.; Willard, H. F.; Sergovich, F.: A deletional alteration of the androgen receptor (AR) gene in a sporadic patient with complete androgen insensitivity (CAI) who is mentally retarded. (Abstract) Am. J. Hum. Genet. 45 (suppl.): A212, 1989. 107. Prior, L.; Bordet, S.; Trifiro, M. A.; Mhatre, A.; Kaufman, M.; Pinsky, L.; Wrogeman, K.; Belsham, D. D.; Pereira, F.; Greenberg, C.; Trapman, J.; Brinkman, A. O.; Chang, C.; Liao, S.: Replacement of arginine 773 by cysteine or histidine in the human androgen receptor causes complete androgen insensitivity with different receptor phenotypes. Am. J. Hum. Genet. 51: 143-155, 1992. 108. Quigley, C. A.; Friedman, K. J.; Johnson, A.; Lafreniere, R. G.; Silverman, L. M.; Lubahn, D. B.; Brown, T. R.; Wilson, E. M.; Willard, H. F.; French, F. S.: Complete deletion of the androgen receptor gene: definition of the null phenotype of the androgen insensitivity syndrome and determination of carrier status. J. Clin. Endocr. Metab. 74: 927-933, 1992. 109. Ris-Stalpers, C.; Kuiper, G. G. J. M.; Faber, P. W.; Schweikert, H. U.; van Rooij, H. C. J.; Zegers, N. D.; Hodgins, M. B.; Degenhart, H. J.; Trapman, J.; Brinkmann, A. O.: Aberrant splicing of androgen receptor mRNA results in synthesis of a nonfunctional receptor protein in a patient with androgen insensitivity. Proc. Nat. Acad. Sci. 87: 7866-7870, 1990. 110. Rodien, P.; Mebarki, F.; Mowszowicz, I.; Chaussain, J.-L.; Young, J.; Morel, Y.; Schaison, G.: Different phenotypes in a family with androgen insensitivity caused by the same M780I point mutation in the androgen receptor gene. J. Clin. Endocr. Metab. 81: 2994-2998, 1996. 111. Sai, T.; Seino, S.; Chang, C.; Trifiro, M.; Pinsky, L.; Mhatre, A.; Kaufman, M.; Lambert, B.; Trapman, J.; Brinkmann, A. O.; Rosenfield, R. L.; Liao, S.: An exonic point mutation of the androgen receptor gene in a family with complete androgen insensitivity. Am. J. Hum. Genet. 46: 1095-1100, 1990. 112. Sammarco, I.; Grimaldi, P.; Rossi, P.; Cappa, M.; Moretti, C.; Frajese, G.; Geremia, R.: Novel point mutation in the splice donor site of exon-intron junction 6 of the androgen receptor gene in a patient with partial androgen insensitivity syndrome. J. Clin. Endocr. Metab. 85: 3256-3261, 2000. 113. Schoenberg, M. P.; Hakimi, J. M.; Wang, S.; Bova, G. S.; Epstein, J. I.; Fischbeck, K. H.; Isaacs, W. B.; Walsh, P. C.; Barrack, E. R.: Microsatellite mutation (CAG (24-to-18)) in the androgen receptor gene in human prostate cancer Biochem. Biophys. Res. Commun. 198: 74-80, 1994. 114. Shang, Y.; Myers, M.; Brown, M.: Formation of the androgen receptor transcription complex. Molec. Cell 9: 601-610, 2002. 115. Simeoni, S.; Mancini, M. A.; Stenoien, D. L.; Marcelli, M.; Weigel, N. L.; Zanisi, M.; Martini, L.; Poletti, A.: Motoneuronal cell death is not correlated with aggregate formation of androgen receptors containing an elongated polyglutamine tract. Hum. Molec. Genet. 9: 133-144, 2000. 116. Sullivan, D. A.; Sullivan, B. D.; Ullman, M. D.; Rocha, E. M.; Krenzer, K. L.; Cermak, J. M.; Toda, I.; Doane, M. G.; Evans, J. E.; Wickham, L. A.: Androgen influence on the meibomian gland. Invest. Ophthal. Vis. Sci. 41: 3732-3742, 2000. 117. Sultan, C.; Lumbroso, S.; Poujol, N.; Belon, C.; Boudon, C.; Lobaccaro, J.-M.: Mutations of androgen receptor gene in androgen insensitivity syndromes. J. Steroid Biochem. Molec. Biol. 46: 519-530, 1993. 118. Sutherland, R. W.; Wiener, J. S.; Hicks, J. P.; Marcelli, M.; Gonzales, E. T.; Roth, D. R.; Lamb, D. J.: Androgen receptor gene mutations are rarely associated with isolated penile hypospadias. J. Urol. 156: 828-831, 1996. 119. Taplin, M.-E.; Bubley, G. J.; Shuster, T. D.; Frantz, M. E.; Spooner, A. E.; Ogata, G. K.; Keer, H. N.; Balk, S. P.: Mutation of the androgen-receptor gene in metastatic androgen-independent prostate cancer. New Eng. J. Med. 332: 1393-1398, 1995. 120. Tilley, W. D.; Marcelli, M.; Wilson, J. D.; McPhaul, M. J.: Characterization and expression of a cDNA encoding the human androgen receptor. Proc. Nat. Acad. Sci. 86: 327-331, 1989. 121. Trifiro, M.; Prior, L.; Pinsky, L.; Kaufman, M.; Chang, C.; Trapman, J.; Brinkmann, A. O.; Kuiper, G. G. J. M.; Ris, C.: A single transition at an exonic CpG site apparently abolishes androgen receptor (AR)-binding activity in a family with complete androgen insensitivity (CAI). (Abstract) Am. J. Hum. Genet. 45 (suppl.): A225, 1989. 122. Trifiro, M.; Prior, R. L.; Sabbaghian, N.; Pinsky, L.; Kaufman, M.; Nylen, E. G.; Belsham, D. D.; Greenberg, C. R.; Wrogemann, K. : Amber mutation creates a diagnostic MaeI site in the androgen receptor gene of a family with complete androgen insensitivity. Am. J. Med. Genet. 40: 493-499, 1991. 123. Tut, T. G.; Ghadessy, F. J.; Trifiro, M. A.; Pinsky, L.; Yong, E. L.: Long polyglutamine tracts in the androgen receptor are associated with reduced trans-activation, impaired sperm production, and male infertility. J. Clin. Endocr. Metab. 82: 3777-3782, 1997. 124. Visakorpi, T.; Hyytinen, E.; Koivisto, P.; Tanner, M.; Keinanen, R.; Palmberg, C.; Palotie, A.; Tammela, T.; Isola, J.; Kallioniemi, O.-P.: In vivo amplification of the androgen receptor gene and progression of human prostate cancer. Nature Genet. 9: 401-406, 1995. 125. Von Eckardstein, S.; Syska, A.; Gromoll, J.; Kamischke, A.; Simoni, M.; Nieschlag, E.: Inverse correlation between sperm concentration and number of androgen receptor CAG repeats in normal men. J. Clin. Endocr. Metab. 86: 2585-2590, 2001. 126. Wang, Q.; Ghadessy, F. J.; Trounson, A.; de Kretser, D.; McLachlan, R.; Ng, S. C.; Yong, E. L.: Azoospermia associated with a mutation in the ligand-binding domain of an androgen receptor displaying normal ligand binding, but defective trans-activation. J. Clin. Endocr. Metab. 83: 4303-4309, 1998. 127. Weidemann, W.; Peters, B.; Romalo, G.; Spindler, K.-D.; Schweikert, H.-U.: Response to androgen treatment in a patient with partial androgen insensitivity and a mutation in the deoxyribonucleic acid-binding domain of the androgen receptor. J. Clin. Endocr. Metab. 83: 1173-1176, 1998. 128. Welch, W. J.; Diamond, M. I.: Glucocorticoid modulation of androgen receptor nuclear aggregation and cellular toxicity is associated with distinct forms of soluble expanded polyglutamine protein. Hum. Molec. Genet. 10: 3063-3074, 2001. 129. Westberg, L.; Baghaei, F.; Rosmond, R.; Hellstrand, M.; Landen, M.; Jansson, M.; Holm, G.; Bjorntorp, P.; Eriksson, E.: Polymorphisms of the androgen receptor gene and the estrogen receptor beta gene are associated with androgen levels in women. J. Clin. Endocr. Metab. 86: 2562-2568, 2001. 130. Wieacker, P.; Breckwoldt, M.; Gal, A.: Testicular feminization: diagnosis and search for closely linked restriction fragment length polymorphism. Dis. Markers 3: 213-218, 1985. 131. Wieacker, P.; Griffin, J. E.; Wienker, T.; Lopez, J. M.; Wilson, J. D.; Breckwoldt, M.: Linkage analysis with RFLPs in families with androgen resistance syndromes: evidence for close linkage between the androgen receptor locus and the DXS1 segment. Hum. Genet. 76: 248-252, 1987. 132. Wilson, C. M.; McPhaul, M. J.: A and B forms of the androgen receptor are present in human genital skin fibroblasts. Proc. Nat. Acad. Sci. 91: 1234-1238, 1994. 133. Wilson, J. D.: The promiscuous receptor: prostate cancer comes of age. (Editorial) New Eng. J. Med. 332: 1440-1441, 1995. 134. Wilson, J. D.; Carlson, B. R.; Weaver, D. D.; Kovacs, W. J.; Griffin, J. E.: Endocrine and genetic characterization of cousins with male pseudohermaphroditism: evidence that the Lubs phenotype can result from a mutation that alters the structure of the androgen receptor. Clin. Genet. 26: 363-370, 1984. 135. Wooster, R.; Mangion, J.; Eeles, R.; Smith, S.; Dowsett, M.; Averill, D.; Barrett-Lee, P.; Easton, D. F.; Ponder, B. A. J.; Stratton, M. R.: A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome. Nature Genet. 2: 132-134, 1992. 136. Zhang, L.; Leeflang, E. P.; Yu, J.; Arnheim, N.: Studying human mutations by sperm typing: instability of CAG trinucleotide repeats in the human androgen receptor gene. Nature Genet. 7: 531-535, 1994. 137. Zhu, Y.-S.; Cai, L.-Q.; Cordero, J. J.; Canovatchel, W. J.; Katz, M. D.; Imperato-McGinley, J.: A novel mutation in the CAG triplet region of exon 1 of androgen receptor gene causes complete androgen insensitivity syndrome in a large kindred. J. Clin. Endocr. Metab. 84: 1590-1594, 1999. 138. Zoppi, S.; Wilson, C. M.; Harbison, M. D.; Griffin, J. E.; Wilson, J. D.; McPhaul, M. J.; Marcelli, M.: Complete testicular feminization caused by an amino-terminal truncation of the androgen receptor with downstream initiation. J. Clin. Invest. 91: 1105-1112, 1993.
[0027157]17745.Konig, A.; Happle, R.; Fink-Puches, R.; Soyer, H. P.; Bornholdt, D.; Engel, H.; Grzeschik, K.-H.: A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement. J. Am. Acad. Derm. 46: 594-596, 2002.
[0027158]17746.Labit-Le Bouteiller, C.; Jamme, M. F.; David, M.; Silve, S.; Lanau, C.; Dhers, C.; Picard, C.; Rahier, A.; Taton, M.; Loison, G.; Caput, D.; Ferrara, P.; Lupker, J.: Antiproliferative effects of SR31747A in animal cell lines are mediated by inhibition of cholesterol biosynthesis at the sterol isomerase step. Europ. J. Biochem. 256: 342-349, 1998.
[0027159]17747.Liu, X. Y.; Dangel, A. W.; Kelley, R. I.; Zhao, W.; Denny, P.; Botcherby, M.; Cattanach, B.; Peters, J.; Hunsicker, P. R.; Mallon, A.-M.; Strivens, M. A.; Bate, R.; Miller, W.; Rhodes, M.; Brown, S. D. M.; Herman, G. E.: The gene mutated in bare patches and striated mice encodes a novel 3-beta-hydroxysteroid dehydrogenase. Nature Genet. 22: 182-187, 1999.
[0027160]17748.Schindelhauer, D.; Hellebrand, H.; Grimm, L.; Bader, I.; Meitinger, T.; Wehnert, M.; Ross, M.; Meindl, A.: Long-range map of a 3.5-Mb region in Xp11.23-22 with a sequence-ready map from a 1.1-Mb gene-rich interval. Genome Res. 6: 1056-1069, 1996.
[0027161]17749.Silve, S.; Dupuy, P. H.; Labit-Lebouteiller, C.; Kaghad, M.; Chalon, P.; Rahier, A.; Taton, M.; Lupker, J.; Shire, D.; Loison, G.: Emopamil-binding protein, a mammalian protein that binds a series of structurally diverse neuroprotective agents, exhibits delta(8)-delta(7) sterol isomerase activity in yeast. J. Biol. Chem. 271: 22434-22440, 1996.
[0027162]17750.Traupe, H.; Muller, D.; Atherton, D.; Kalter, D. C.; Cremers, F. P. M.; van Oost, B. A.; Ropers, H.-H.: Exclusion mapping of the X-linked dominant chondrodysplasia punctata/ichthyosis/cataract/short stature (Happle) syndrome: possible involvement of an unstable premutation. Hum. Genet. 89: 659-665, 1992.
[0027163]17751.Jin, H.; Gardner, R. J.; Viswesvaraiah, R.; Muntoni, F.; Roberts, R. G.: Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1-Xp21.3 mental retardation. Europ. J. Hum. Genet. 8: 87-94, 2000.
[0027164]17752.Montini, E.; Buchner, G.; Spalluto, C.; Andolfi, G.; Caruso, A.; den Dunnen, J. T.; Trump, D.; Rocchi, M.; Ballabio, A.; Franco, B. : Identification of SCML2, a second human gene homologous to the Drosophila sex comb on midleg (Scm): a new gene cluster on Xp22. Genomics 58: 65-72, 1999.
[0027165]17753.Goto, M.; Imamura, O.; Kuromitsu, J.; Matsumoto, T.; Yamabe, Y.; Tokutake, Y.; Suzuki, N.; Mason, B.; Drayna, D.; Sugawara, M.; Sugimoto, M.; Furuichi, Y.: Analysis of helicase gene mutations in Japanese Werner's syndrome patients. Hum. Genet. 99: 191-193, 1997.
[0027166]17754.Gray, M. D.; Shen, J.-C.; Kamath-Loeb, A. S.; Blank, A.; Sopher, B. L.; Martin, G. M.; Oshima, J.; Loeb, L. A.: The Werner syndrome protein is a DNA helicase. Nature Genet. 17: 100-103, 1997.
[0027167]17755.Imamura, O.; Ichikawa, K.; Yamabe, Y.; Goto, M.; Sugawara, M.; Furuichi, Y.: Cloning of a mouse homologue of the human Werner syndrome gene and assignment to 8A4 by fluorescence in situ hybridization. Genomics 41: 298-300, 1997.
[0027168]17756.Ishikawa, Y.; Sugano, H.; Matsumoto, T.; Furuichi, Y.; Miller, R. W.; Goto, M.: Unusual features of thyroid carcinomas in Japanese patients with Werner syndrome and possible genotype-phenotype relations to cell type and race. Cancer 85: 1345-1352, 1999.
[0027169]17757.Marciniak, R. A.; Lombard, D. B.; Johnson, F. B.; Guarente, L. : Nucleolar localization of the Werner syndrome protein in human cells. Proc. Nat. Acad. Sci. 95: 6887-6892, 1998.
[0027170]17758.Boyle, S.; Gilchrist, S.; Bridger, J. M.; Mahy, N. L.; Ellis, J. A.; Bickmore, W. A.: The spatial organization of human chromosomes within the nuclei of normal and emerin-mutant cells. Hum. Molec. Genet. 10: 211-219, 2001.
[0027171]17759.Clarke, A.: Hypohidrotic ectodermal dysplasia. J. Med. Genet. 24: 659-663, 1987.
[0027172]17760.Cartegni, L.; Raffaele di Barletta, M.; Barresi, R.; Squarzoni, S.; Sabatelli, P.; Maraldi, N.; Mora, M.; Di Blasi, C.; Cornelio, F.; Merlini, L.; Villa, A.; Cobianchi, F.; Toniolo, D.: Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy. Hum. Molec. Genet. 6: 2257-2264, 1997.
[0027173]17761.Consalez, G. G.; Thomas, N. S. T.; Stayton, C. L.; Knight, S. J. L.; Johnson, M.; Hopkins, L. C.; Harper, P. S.; Elsas, L. J.; Warren, S. T.: Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: the results of a collaborative study. Am. J. Hum. Genet. 48: 468-480, 1991.
[0027174]17762.Ellis, J. A.; Yates, J. R. W.; Kendrick-Jones, J.; Brown, C. A. : Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy. Hum. Genet. 104: 262-268, 1999.
[0027175]17763.Hodgson, S. V.; Boswinkel, E.; Walker, A.; Bobrow, M.; Davies, K.; Dubowitz, V.; Granata, G.; Merlini, L.: Linkage analysis using nine DNA polymorphisms along the length of the X chromosome locates the gene for Emery-Dreifuss muscular dystrophy to distal Xq. (Abstract) J. Med. Genet. 23: 169-170, 1986.
[0027176]17764.Klauck, S.; Wilgenbus, P.; Yates, J. R. W.; Muller, C. R.; Poustka, A.: Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy. Hum. Mol. Genet. 4: 1853-1857, 1995.
[0027177]17765.Manilal, S.; Nguyen thi Man; Sewry, C. A.; Morris, G. E.: The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein. Hum. Molec. Genet. 5: 801-808, 1996.
[0027178]17766.Manilal, S.; Recan, D.; Sewry, C. A.; Hoeltzenbein, M.; Llense, S.; Leturcq, F.; Deburgrave, N.; Barbot, J.-C.; Nguyen thi Man; Muntoni, F.; Wehnert, M.; Kaplan, J.-C.; Morris, G. E.: Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression. Hum. Molec. Genet. 7: 855-864, 1998.
[0027179]17767.Nevo, Y.; Al-Lozi, M.; Parsadanian, A. S.; Elliott, J. L.; Connolly, A. M.; Pestronk, A.: Mutation analysis in Emery-Dreifuss muscular dystrophy. Pediat. Neurol. 21: 456-459, 1999.
[0027180]17768.Romeo, G.; Roncuzzi, L.; Sangiorgi, S.; Giacanelli, M.; Liguori, M.; Tessarolo, D.; Rocchi, M.: Mapping of the Emery-Dreifuss gene through reconstruction of crossover points in two Italian pedigrees. Hum. Genet. 80: 59-62, 1988.
[0027181]17769.Thomas, N. S. T.; Williams, H.; Elsas, L. J.; Hopkins, L. C.; Sarfarazi, M.; Harper, P. S.: Localisation of the gene for Emery-Dreifuss muscular dystrophy to the distal long arm of the X chromosome. J. Med. Genet. 23: 596-598, 1986.
[0027182]17770.Wulff, K.; Parrish, J. E.; Herrmann, F. H.; Wehnert, M.: Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss muscular dystrophy. Hum. Mutat. 9: 526-530, 1997.
[0027183]17771.Yamada, T.; Kobayashi, T.: A novel emerin mutation in a Japanese patient with Emery-Dreifuss muscular dystrophy. Hum. Genet. 97: 693-694, 1996.
[0027184]17772.Yates, J. R. W.; Affara, N. A.; Jamieson, D. M.; Ferguson-Smith, M. A.; Hausmanowa-Petrusewicz, I.; Zaremba, J.; Borkowska, J.; Johnston, A. W.; Kelly, K.: Emery-Dreifuss muscular dystrophy: localisation to Xq27.3-qter confirmed by linkage to the factor VIII gene. J. Med. Genet. 23: 587-590, 1986.
[0027185]17773.Yates, J. R. W.; Bagshaw, J.; Aksmanovic, V. M. A.; Coomber, E.; McMahon, R.; Whittaker, J. L.; Morrison, P. J.; Kendrick-Jones, J.; Ellis, J. A.: Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype. Neuromusc. Disord. 9: 159-165, 1999.
[0027186]17774.Yates, J. R. W.; Warner, J. P.; Smith, J. A.; Deymeer, F.; Azulay, J.-P.; Hausmanowa-Petrusewicz, I.; Zaremba, J.; Borkowska, J.; Affara, N. A.; Ferguson-Smith, M. A.: Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq28. J. Med. Genet. 30: 108-111, 1993.
[0027187]17775.Yorifuji, H.; Tadano, Y.; Tsuchiya, Y.; Ogawa, M.; Goto, K.; Umetani, A.; Asaka, Y.; Arahata, K.: Emerin, deficiency of which causes Emery-Dreifuss muscular dystrophy, is localized at the inner nuclear membrane. Neurogenetics 1: 135-140, 1997.
[0027188]17776.Allen, R. C.; Armitage, R. J.; Conley, M. E.; Rosenblatt, H.; Jenkins, N. A.; Copeland, N. G.; Bedell, M. A.; Edelhoff, S.; Disteche, C. M.; Simoneaux, D. K.; Fanslow, W. C.; Belmont, J.; Spriggs, M. K. : CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome. Science 259: 990-993, 1993.
[0027189]17777.Aruffo, A.; Farrington, M.; Hollenbaugh, D.; Li, X.; Milatovich, A.; Nonoyama, S.; Bajorath, J.; Grosmaire, L. S.; Stenkamp, R.; Neubauer, M.; Roberts, R. L.; Noelle, R. J.; Ledbetter, J. A.; Francke, U.; Ochs, H. D.: The CD40 ligand, gp39, is defective in activated T cells from patients with Xlinked hyper-IgM syndrome. Cell 72: 291-300, 1993.
[0027190]17778.DiSanto, J. P.; Bonnefoy, J. Y.; Gauchat, J. F.; Fischer, A.; de Saint Basile, G.: CD40 ligand mutations in X-linked immunodeficiency with hyper-IgM. Nature 361: 541-543, 1993.
[0027191]17779.Gauchat, J.-F.; Aubry, J.-P.; Mazzei, G.; Life, P.; Jomotte, T.; Elson, G.; Bonnefoy, J.-Y.: Human CD40-ligand: molecular cloning, cellular distribution and regulation of expression by factors controlling IgE production. FEBS Lett. 315: 259-266, 1993.
[0027192]17780.Graf, D.; Korthauer, U.; Mages, H. W.; Senger, G.; Kroczek, R. A.: Cloning of TRAP, a ligand for CD40 on human T cells. Europ. J. Immun. 22: 3191-3194, 1992.
[0027193]17781.Hollenbaugh, D.; Grosmaire, L. S.; Kullas, C. D.; Chalupny, N. J.; Braesch-Andersen, S.; Noelle, R. J.; Stamenkovic, I.; Ledbetter, J. A.; Aruffo, A.: The human T cell antigen gp39, a member of the TNF gene family, is a ligand for the CD40 receptor: expression of a soluble form of gp39 with B cell co-stimulatory activity. EMBO J. 11: 4313-4321, 1992.
[0027194]17782.Hors-Cayla, M. C.; Heuertz, S.; Van Cong, N.; Benne, F.: Cattle gene mapping by somatic cell hybridization. (Abstract) Cytogenet. Cell Genet. 25: 165-166, 1979.
[0027195]17783.Biamonti, G.; Ruggiu, M.; Saccone, S.; Della Valle, G.; Riva, S. : Two homologous genes, originated by duplication, encode the human hnRNP proteins A2 and A1. Nucleic Acids Res. 22: 1996-2002, 1994.
[0027196]17784.Clarke, A.; Burn, J.: Sweat testing to identify female carriers of X linked hypohidrotic ectodermal dysplasia. J. Med. Genet. 28: 330-333, 1991.
[0027197]17785.Clarke, A.; Sarfarazi, M.; Thomas, N. S. T.; Roberts, K.; Harper, P. S.: X-linked hypohidrotic ectodermal dysplasia: DNA probe linkage analysis and gene localization. Hum. Genet. 75: 378-380, 1987.
[0027198]17786.Clarke, A.; Sarfarazi, M.; Zonana, J.; Thomas, N. S. T.; Roberts, K.; Harper, P. S.: Regional localization of X-linked hypohidrotic ectodermal dysplasia (EDA). (Abstract) Cytogenet. Cell Genet. 46: 594, 1987.
[0027199]17787.Cohen, M. M.; Lin, C. C.; Sybert, V.; Orecchio, E. J.: Two human X-autosome translocations identified by autoradiography and fluorescence. Am. J. Hum. Genet. 24: 583-597, 1972.
[0027200]17788.Crawford, P. J. M.; Aldred, M. J.; Clarke, A.: Clinical and radiographic dental findings in X linked hypohidrotic ectodermal dysplasia. J. Med. Genet. 28: 181-185, 1991.
[0027201]17789.Darwin, C.: The Variation of Animals and Plants under Domestication. London: John Murray (pub.) (2nd ed.): 1875. Pp. 319 only.
[0027202]17790.de la Chapelle, A.: The map of the human X chromosome.In: Crosignani, P. G.; Fraccaro, M.; Rubin, B. L.: Genetic Control of Gamete Production and Function. New York: Grune and Stratton (pub.) 1982. Pp. 33-48.
[0027203]17791.de la Chapelle, A.: Personal Communication. Helsinki, Finland 9/18/1990.
[0027204]17792.Durmowicz, M. C.; Cui, C.-Y.; Schlessinger, D.: The EDA gene is a target of, but does not regulate Wnt signaling. Gene 285: 203-211, 2002.
[0027205]17793.Elomaa, O.; Pulkkinen, K.; Hannelius, U.; Mikkola, M.; Saarialho-Kere, U.; Kere, J.: Ectodysplasin is released by proteolytic shedding and binds to the EDAR protein. Hum. Molec. Genet. 10: 953-962, 2001.
[0027206]17794.Ezer, S.; Bayes, M.; Elomaa, O.; Schlessinger, D.; Kere, J.: Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells. Hum. Molec. Genet. 8: 2079-2086, 1999.
[0027207]17795.Familusi, J. B.; Jaiyesimi, F.; Ojo, C. O.; Attah, E. B.: Hereditary anhidrotic ectodermal dysplasia: studies in a Nigerian family. Arch. Dis. Child. 50: 642-647, 1975.
[0027208]17796.Ferguson, B. M.; Brockdorff, N.; Formstone, E.; Ngyuen, T.; Kronmiller, J. E.; Zonana, J.: Cloning of Tabby, the murine homolog of the human EDA gene: evidence for a membraneassociated protein with a short collagenous domain. Hum. Molec. Genet. 6: 1589-1594, 1997.
[0027209]17797.Ferguson, B. M.; Thomas, N. S. T.; Munoz, F.; Morgan, D.; Clarke, A.; Zonana, J.: Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications. J. Med. Genet. 35: 112-115, 1998.
[0027210]17798.Filippi, G.; Rinaldi, A.; Crisponi, G. L.; Siniscalco, M.: X-mapping in man: evidence against measurable linkage between anhidrotic ectodermal dysplasia and G6PD deficiency. J. Med. Genet. 16: 223-226, 1979.
[0027211]17799.Fox, L. A.: X-linked anhidrotic ectodermal dysplasia manifesting in a female. Birth Defects Orig. Art. Ser. X(4): 319-320, 1974.
[0027212]17800.Freire-Maia, N.; Pinheiro, M.: So-called 'anhidrotic ectodermal dysplasia.'. Int. J. Derm. 19: 455-456, 1980.
[0027213]17801.Gerald, P. S.; Brown, J. A.: Report of the committee on the genetic constitution of the X chromosome. Cytogenet. Cell Genet. 13: 29-34, 1974.
[0027214]17802.Gilgenkrantz, S.; Blanchet-Bardon, C.; Nazzaro, V.; Formiga, L.; Mujica, P.; Alembik, Y.: Hypohidrotic ectodermal dysplasia: clinical study of a family of 30 over three generations. Hum. Genet. 81: 120-122, 1989.
[0027215]17803.Grant, R.; Falls, H. F.: Anodontia: report of a case associated with ectodermal dysplasia of the anhidrotic type. Am. J. Orthodont. 30: 661-672, 1944.
[0027216]17804.Graves, R.: The Whitaker Negroes.In: Encounters: An anthology from the first ten years of Encounter Magazine.:Spender, S.; Kristol, I.; Lasky, M. J., eds. New York: Basic Books, Inc. (pub.) Pp. 92-105: 1963.
[0027217]17805.Halperin, S. L.; Curtis, G. M.: Anhidrotic ectodermal dysplasia associated with mental deficiency. Am. J. Ment. Defic. 46: 459-463, 1942.
[0027218]17806.Hanauer, A.; Alembik, Y.; Arveiler, B.; Formiga, L.; Gilgenkrantz, S.; Mandel, J. L.: Genetic mapping of hypohidrotic ectodermal dysplasia: linkage to DXS159 and DXYS1. (Abstract) Cytogenet. Cell Genet. 46: 626 only, 1987.
[0027219]17807.Hanauer, A.; Alembik, Y.; Arveiler, B.; Formiga, L.; Gilgenkrantz, S.; Mandel, J. L.: Genetic mapping of anhidrotic ectodermal dysplasia: DXS159, a closely linked proximal marker. Hum. Genet. 80: 177-180, 1988.
[0027220]17808.Happle, R.: Association of pigmentary anomalies with chromosomal and genetic mosaicism and chimerism. (Letter) Am. J. Hum. Genet. 48: 1013-1014, 1991.
[0027221]17809.Happle, R.; Frosch, P. J.: Manifestation of the lines of Blaschko in women heterozygous for X-linked hypohidrotic ectodermal dysplasia. Clin. Genet. 27: 468-471, 1985.
[0027222]17810.Harper, P. S.: Personal Communication. Cardiff, Wales 6/24/1986.
[0027223]17811.Hutt, F. B.: An earlier record of the toothless men of Sind. J. Hered. 26: 65-66, 1935.
[0027224]17812.Jesperson, H. G.: Hereditary ectodermal dysplasia of anhidrotic type. Acta Paediat. 51: 712-720, 1962.
[0027225]17813.Kapalanga, J.; Blecher, S. R.: Effect of the X-linked gene Tabby (Ta) on eyelid opening and incisor eruption in neonatal mice is opposite to that of epidermal growth factor. Development 108: 349-355, 1990.
[0027226]17814.Kere, J.; Srivastava, A. K.; Montonen, O.; Zonana, J.; Thomas, N.; Ferguson, B; Munoz, F.; Morgan, D.; Clarke, A.; Baybayan, P.; Chen, E. Y.; Ezer, S.; Saarialho-Kere, U.; de la Chapelle, A.; Schlessinger, D.: X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nature Genet. 13: 409-416, 1996.
[0027227]17815.Kerr, C. B.; Wells, R. S.; Cooper, K. E.: Gene effect in carriers of anhidrotic ectodermal dysplasia. J. Med. Genet. 3: 169-176, 1966.
[0027228]17816.Kleinebrecht, J.; Degenhardt, K.-H.; Grubisic, A.; Gunther, E.; Svejcar, J.: Sweat pore counts in ectodermal dysplasias. Hum. Genet. 57: 437-439, 1981.
[0027229]17817.Kline, A. H.; Sidbury, J. B., Jr.; Richter, C. P.: The occurrence of ectodermal dysplasia and corneal dysplasia in one family. J. Pediat. 55: 355-366, 1959.
[0027230]17818.Kobielak, K.; Kobielak, A.; Roszkiewicz, J.; Wierzba, J.; Limon, J.; Trzeciak, W. H.: Mutations in the EDA gene in three unrelated families reveal no apparent correlation between phenotype and genotype in the patients with an X-linked anhidrotic ectodermal dysplasia. Am. J. Med. Genet. 100: 191-197, 2001.
[0027231]17819.Stoddart, K. L.; Jermak, C.; Nagaraja, R.; Schlessinger, D.; Bech-Hansen, N. T.: Physical map covering a 2 Mb region in human Xp11.3 distal to DX6849. Gene 227: 111-116, 1999.
[0027232]17820.Swanson, D. A.; Freund, C. L.; Ploder, L.; McInnes, R. R.; Valle, D.: A ubiquitin Cterminal hydrolase gene on the proximal short arm of the X chromosome: implications for X-linked retinal disorders. Hum. Molec. Genet. 5: 533-538, 1996.
[0027233]17821.Olinsky, S.; Loop, B. T.; DeKosky, A.; Ripepi, B.; Weng, W.; Cummins, J.; Wenger, S. L.; Yan, Y.; Lagenaur, C.; Narayanan, V.: Chromosomal mapping of the human M6 genes. Genomics 33: 532-536, 1996.
[0027234]17822.Yan, Y.; Lagenaur, C.; Narayanan, V.: Molecular cloning of M6: identification of a PLP/DM20 gene family. Neuron 11: 423-431, 1993.
[0027235]17823.Ballabio, A.; Parenti, G.; Napolitano, E.; Di Natale, P.; Andria, G.: Genetic complementation of steroid sulphatase after somatic cell hybridization of X-linked ichthyosis and multiple sulphatase deficiency. Hum. Genet. 70: 315-317, 1985.
[0027236]17824.Nan, X.; Ng, H.-H.; Johnson, C. A.; Laherty, C. D.; Turner, B. M.; Eisenman, R. N.; Bird, A.: Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex. Nature 393: 386-389, 1998.
[0027237]17825.Nan, X.; Tate, P.; Li, E.; Bird, A.: DNA methylation specifies chromosomal localization of MeCP2. Molec. Cell. Biol. 16: 414-421, 1996.
[0027238]17826.Arn, P.; Hauser, B.; Maestri, N.; Herman, G.; Thomas, G. H.; Brusilow, S. W.: Hyperammonemic coma in adult females heterozygous at the ornithine transcarbamylase locus (OTCDH). (Abstract) Am. J. Hum. Genet. 45 (suppl.): A3, 1989.
[0027239]17827.Andersson, M.; Page, D. C.; Pettay, D.; Subrt, I.; Turleau, C.; de Grouchy, J.; de la Chapelle, A.: Y;autosome translocations and mosaicism in the aetiology of 45,X maleness: assignment of fertility factor to distal Yq11. Hum. Genet. 79: 2-7, 1988.
[0027240]17828.Chandley, A. C.; Gosden, J. R.; Hargreave, T. B.; Spowart, G.; Speed, R. M.; McBeath, S.: Deleted Yq in the sterile son of a man with a satellited Y chromosome (Yqs). J. Med. Genet. 26: 145-153, 1989.
[0027241]17829.Robledo, R.; Melis, P.; Schillinger, E.; Casciano, I.; Balazs, I.; Rinaldi, A.; Siniscalco, M.; Filippi, G.: X-linked ichthyosis without STS deficiency: clinical, genetical, and molecular studies. Am. J, Med. Genet. 59: 143-148, 1995.
[0027242]17830.Franco, B.; Meroni, G.; Parenti, G.; Levilliers, J.; Bernard, L.; Gebbia, M.; Cox, L.; Maroteaux, P.; Sheffield, L.; Rappold, G. A.; Andria, G.; Petit, C.; Ballabio, A.: A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy. Cell 81: 1-20, 1995.
[0027243]17831.Meroni, G.; Franco, B.; Archidiacono, N.; Messali, S.; Andolfi, G.; Rocchi, M.; Ballabio, A.: Characterization of a cluster of sulfatase genes on Xp22.3 suggests gene duplications in an ancestral pseudoautosomal region. Hum. Molec. Genet. 5: 423-431, 1996.
[0027244]17832.Franco, B.; Meroni, G.; Parenti, G.; Levilliers, J.; Bernard, L.; Gebbia, M.; Cox, L.; Maroteaux, P.; Sheffield, L.; Rappold, G. A.; Andria, G.; Petit, C.; Ballabio, A.: A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy. Cell 81: 15-20, 1995.
[0027245]17833.Puca, A. A.; Zollo, M.; Repetto, M.; Andolfi, G.; Guffanti, A.; Simon, G.; Ballabio, A.; Franco, B.: Identification by shotgun sequencing, genomic organization, and functional analysis of a fourth arylsulfatase gene (ARSF) from the Xp22.3 region. Genomics 42: 192-199, 1997.
[0027246]17834.Adler, D. A.; Quaderi, N. A.; Brown, S. D. M.; Chapman, V. M.; Moore, J.; Tate, P.; Disteche, C. M.: The X-linked methylated DNA binding protein, Mecp2, is subject to X inactivation in the mouse. Mammalian Genome 6: 491-492, 1995.
[0027247]17835.Amano, K.; Nomura, Y.; Segawa, M.; Yamakawa, K.: Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome. J. Hum. Genet. 45: 231-236, 2000.
[0027248]17836.Amir, R. E.; Van den Veyver, I. B.; Wan, M.; Tran, C. Q.; Francke, U.; Zoghbi, H. Y.: Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nature Genet. 23: 185-188, 1999.
[0027249]17837.Ballestar, E.; Yusufzai, T. M.; Wolffe, A. P.: Effects of Rett syndrome mutations of the methyl-CpG binding domain of the transcriptional repressor MeCP2 on selectivity for association with methylated DNA. Biochemistry 39: 7100-7106, 2000.
[0027250]17838.Balmer, D.; Arredondo, J.; Samaco, R. C.; LaSalle, J. M.: MECP2 mutations in Rett syndrome adversely affect lymphocyte growth, but do not affect imprinted gene expression in blood or brain. Hum. Genet. 110: 545-552, 2002.
[0027251]17839.Bienvenu, T.; Carrie, A.; de Roux, N.; Vinet, M.-C.; Jonveaux, P.; Couvert, P.; Villard, L.; Arzimanoglou, A.; Beldjord, C.; Fontes, M.; Tardieu, M.; Chelly, J.: MECP2 mutations account for most cases of typical forms of Rett syndrome. Hum. Molec. Genet. 9: 1377-1384, 2000.
[0027252]17840.van de Vosse, E.; Walpole, S. M.; Nicolaou, A.; van der Bent, P.; Cahn, A.; Vaudin, M.; Ross, M. T.; Durham, J.; Pavitt, R.; Wilkinson, J.; Grafham, D.; Bergen, A. A. B.; van Ommen, G.-J. B.; Yates, J. R. W.; den Dunnen, J. T.; Trump, D.: Characterization of SCML1, a new gene in Xp22, with homology to developmental polycomb genes. Genomics 49: 96-102, 1998.
[0027253]17841.Ballabio, A.; Bardoni, B.; Carrozzo, R.; Andria, G.; Bick, D.; Campbell, L.; Hamel, B.; Ferguson-Smith, M. A.; Gimelli, G.; Fraccaro, M.; Maraschio, P.; Zuffardi, O.; Guioli, S.; Camerino, G.: Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. Proc. Nat. Acad. Sci. 86: 10001-10005, 1989.
[0027254]17842.Fujikawa-Adachi, K.; Nishimori, I.; Taguchi, T.; Onishi, S.: Human mitochondrial carbonic anhydrase VB: cDNA cloning, mRNA expression, subcellular localization, and mapping to chromosome X. J. Biol. Chem. 274: 21228-21233, 1999.
[0027255]17843.Shah, G. N.; Hewett-Emmett, D.; Grubb, J. H.; Migas, M. C.; Fleming, R. E.; Waheed, A.; Sly, W. S.: Mitochondrial carbonic anhydrase CA VB: differences in tissue distribution and pattern of evolution from those of CA VA suggest distinct physiological roles. Proc. Nat. Acad. Sci. 97: 1677-1682, 2000.
[0027256]17844.Nagase, T.; Seki, N.; Ishikawa, K.; Ohira, M.; Kawarabayasi, Y.; Ohara, O.; Tanaka, A.; Kotani, H.; Miyajima, N.; Nomura, N.: Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. DNA Res. 3: 321-329, 1996. Note: Supplement: DNA Res. 3: 341-354, 1996.
[0027257]17845.Bowling, F.; McGown, I.; McGill, J.; Cowley, D.; Tuchman, M.: Maternal gonadal mosaicism causing ornithine transcarbamylase deficiency. Am. J. Med. Genet. 85: 452-454, 1999.
[0027258]17846.Bruton, C. J.; Corsellia, J. A. N.; Russell, A.: Hereditary hyperammonemia. Brain 93: 423-434, 1970.
[0027259]17847.Burdakin, J. H.; Norum, R. A.: Recombination between loci for ornithine transcarbamylase (OTC) deficiency and G6PD. (Abstract) Am. J. Hum. Genet. 33: 38A, 1981.
[0027260]17848.Asao, H.; Okuyama, C.; Kumaki, S.; Ishii, N.; Tsuchiya, S.; Foster, D.; Sugamura, K.: Cutting edge: the common gamma-chain is an indispensable subunit of the IL-21 receptor complex. J. Immun. 167: 1-5, 2001.
[0027261]17849.Arn, P. H.; Hauser, E. R.; Thomas, G. H.; Herman, G.; Hess, D.; Brusilow, S. W.: Hyperammonemia in women with a mutation at the ornithine carbamoyltransferase locus: a cause of postpartum coma. New Eng. J. Med. 322: 1652-1655, 1990.
[0027262]17850.Batshaw, M. L.; Roan, Y.; Jung, A. L.; Rosenberg, L. A.; Brusilow, S. W.: Cerebral dysfunction in asymptomatic carriers of ornithine transcarbamylase deficiency. New Eng. J. Med. 302: 482-485, 1980.
[0027263]17851.Bonaiti-Pellie, C.; Pelet, A.; Ogier, H.; Nelson, J.-R.; Largilliere, C.; Berthelot, J.; Saudubray, J.-M.; Munnich, A.: A probable sex difference in mutation rates in ornithine transcarbamylase deficiency. Hum. Genet. 84: 163-166, 1990.
[0027264]17852.Campbell, A. G. M.; Rosenberg, L. E.; Snodgrass, P. J.; Nuzum, C. T.: Lethal neonatal hyperammonaemia due to complete ornithine-transcarbamylase deficiency. (Letter) Lancet II: 217-218, 1971.
[0027265]17853.Campbell, A. G. M.; Rosenberg, L. E.; Snodgrass, P. J.; Nuzum, C. T.: Ornithine transcarbamylase deficiency: a cause of lethal neonatal hyperammonemia in males. New Eng. J. Med. 288: 1-6, 1973.
[0027266]17854.Carstens, R. P.; Fenton, W. A.; Rosenberg, L. R.: Identification of RNA splicing errors resulting in human ornithine transcarbamylase deficiency. Am. J. Hum. Genet. 48: 1105-1114, 1991.
[0027267]17855.Cathelineau, L.; Saudubray, J.-M.; Polonovski, C.: Heterogeneous mutations of the structural gene of human ornithine carbamyltransferase as observed in five personal cases. Enzyme 18: 103-113, 1974.
[0027268]17856.Cavard, C.; Grimber, G.; Dubois, N.; Chasse, J.-F.; Bennoun, M.; Minet-Thuriaux, M.; Kamoun, P.; Briand, P.: Correction of mouse ornithine transcarbamylase deficiency by gene transfer into the germ line. Nucleic Acids Res. 16: 2099-2110, 1988.
[0027269]17857.Clayton-Smith, J.; Donnai, D.: Fetal valproate syndrome. J. Med. Genet. 32: 724-727, 1995.
[0027270]17858.Corey, L.; Rubin, R. J.; Hattwick, M. A. W.; Noble, G. R.; Cassidy, E.: A nationwide outbreak of Reye's syndrome: its epidemiologic relationship to influenza B. Am. J. Med. 61: 615-625, 1976.
[0027271]17859.DeMars, R.; LeVan, S. L.; Trend, B. L.; Russell, L. B.: Abnormal ornithine carbamyltransferase in mice having the sparse-fur mutation. Proc. Nat. Acad. Sci. 73: 1693-1697, 1976.
[0027272]17860.Drogari, E.; Leonard, J. V.: Late onset ornithine carbamoyl transferase deficiency in males. Arch. Dis. Child. 63: 1363-1367, 1988.
[0027273]17861.Faiella, A.; Wernig, M.; Consalez, G. G.; Hostick, U.; Hofmann, C.; Hustert, E.; Boncinelli, E.; Balling, R.; Nadeau, J. H.: A mouse model for valproate teratogenicity: parental effects, homeotic transformations, and altered HOX expression. Hum. Molec. Genet. 9: 227-236, 2000.
[0027274]17862.Feldmann, D.; Rozet, J.-M.; Pelet, A.; Hentzen, D.; Briand, P.; Hubert, P.; Largilliere, C.; Rabier, D.; Farriaux, J.-P.; Munnich, A.: Site specific screening for point mutations in ornithine transcarbamylase deficiency. J. Med. Genet. 29: 471-475, 1992.
[0027275]17863.Finkelstein, J. E.; Francomano, C. A.; Brusilow, S. W.; Traystman, M. D.: Use of denaturing gradient gel electrophoresis for detection of mutation and prospective diagnosis in late onset ornithine transcarbamylase deficiency. Genomics 7: 167-172, 1990.
[0027276]17864.Finkelstein, J. E.; Hauser, E.; Brusilow, S. W.: Late onset ornithine transcarbamylase deficiency (OTCD) in males. (Abstract) Am. J. Hum. Genet. 45 (suppl.): A5, 1989.
[0027277]17865.Finkelstein, J. E.; Hauser, E. R.; Leonard, C. O.; Brusilow, S. W.: Late-onset ornithine transcarbamylase deficiency in male patients. J. Pediat. 117: 897-902, 1990.
[0027278]17866.Fox, J. E.; Hack, A. M.; Fenton, W. A.; Golbus, M. S.; Winter, S.; Kalousek, F.; Rozen, R.; Brusilow, S. W.; Rosenberg, L. E.: Prenatal diagnosis of ornithine transcarbamylase deficiency with use of DNA polymorphisms. New Eng. J. Med. 315: 1205-1208, 1986.
[0027279]17867.Fox, J. E.; Hack, A. M.; Fenton, W. A.; Rosenberg, L. E.: Identification and application of additional restriction fragment length polymorphisms at the human ornithine transcarbamylase locus. Am. J. Hum. Genet. 38: 841-847, 1986.
[0027280]17868.Garcia-Perez, M. A.; Sanjurjo, P.; Rubio, V.: Demonstration of the spf-ash mutation in Spanish patients with ornithine transcarbamylase deficiency of moderate severity. Hum. Genet. 95: 183-186, 1995.
[0027281]17869.Gelehrter, T. D.; Rosenberg, L. E.: Ornithine transcarbamylase deficiency: unsuccessful therapy of neonatal hyperammonemia with N-carbamyl-L-glutamate and L-arginine. New Eng. J. Med. 292: 351-352, 1975.
[0027282]17870.Genet, S.; Cranston, T.; Middleton-Price, H. R.: Mutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutations. J. Inherit. Metab. Dis. 23: 669-676, 2000.
[0027283]17871.Gilbert-Dussardier, B.; Segues, B.; Rozet, J.-M.; Rabier, D.; Calvas, P.; de Lumley, L.; Bonnefond, J.-P.; Munnich, A.: Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia. Hum. Mutat. 8: 74-76, 1996.
[0027284]17872.Gilchrist, J. M.; Coleman, R. A.: Ornithine transcarbamylase deficiency: adult onset of severe symptoms. Ann. Intern. Med. 106: 556-558, 1987.
[0027285]17873.Glick, T. H.; Likosky, W. H.; Levitt, L. P.; Mellin, H.; Reynolds, D. W.: Reye's syndrome: an epidemiologic approach. Pediatrics 46: 371-377, 1970.
[0027286]17874.Grompe, M.; Caskey, C. T.; Fenwick, R. G.: Improved molecular diagnostics for ornithine transcarbamylase deficiency. Am. J. Hum. Genet. 48: 212-222, 1991.
[0027287]17875.Grompe, M.; Muzny, D. M.; Caskey, C. T.: Scanning detections of mutations in human ornithine transcarbamylase deficiency (OTC) by chemical mismatch cleavage. (Abstract) Am. J. Hum. Genet. 45 (suppl.): A192, 1989.
[0027288]17876.Ogata, T.; Wakui, K.; Muroya, K.; Ohashi, H.; Matsuo, N.; Brown, D. M.; Ishii, T.; Fukushima, Y.: Microphthalmia with linear skin defects syndrome in a mosaic female infant with monosomy for the Xp22 region: molecular analysis of the Xp22 breakpoint and the X-inactivation pattern. Hum. Genet. 103: 51-56, 1998.
[0027289]17877.Lankes, W.; Griesmacher, A.; Grunwald, J.; Schwartz-Albiez, R.; Keller, R.: A heparin-binding protein involved in inhibition of smooth-muscle cell proliferation. Biochem. J. 251: 831-842, 1988.
[0027290]17878.Lankes, W. T.; Furthmayr, H.: Moesin: a member of the protein 4.1-talin-ezrin family of proteins. Proc. Nat. Acad. Sci. 88: 8297-8301, 1991.
[0027291]17879.Shcherbina, A.; Bretscher, A.; Rosen, F. S.; Kenney, D. M.; Remold-O'Donnell, E.: The cytoskeletal linker protein moesin: decreased levels in Wiskott-Aldrich syndrome platelets and identification of a cleavage pathway in normal platelets. Brit. J. Haemat. 106: 216-223, 1999.
[0027292]17880.Wilgenbus, K. K.; Hsieh, C.-L.; Lankes, W. T.; Milatovich, A.; Francke, U.; Furthmayr, H.: Structure and localization on the X chromosome of the gene coding for the human filopodial protein moesin (MSN). Genomics 19: 326-333, 1994.
[0027293]17881.Deng, L.; Wang, C.; Spencer, E.; Yang, L.; Braun, A.; You, J.; Slaughter, C.; Pickart, C.; Chen, Z. J.: Activation of the I-kappa-B complex by TRAF6 requires a dimeric ubiquitin-conjugating enzyme complex and a unique polyubiquitin chain. Cell 103: 351-361, 2000.
[0027294]17882.Nakano, H.; Oshima, H.; Chung, W.; Williams-Abbott, L.; Ware, C. F.; Yagita, H.; Okumura, K.: TRAF5, an activator of NF-kappaB and putative signal transducer for the lymphotoxin-beta receptor. J. Biol. Chem. 271: 14661-14664, 1996.
[0027295]17883.Nakano, H.; Sakon, S.; Koseki, H.; Takemori, T.; Tada, K.; Matsumoto, M.; Munechika, E.; Sakai, T.; Shirasawa, T.; Akiba, H; Kobata, T.; Santee, S. M.; Ware, C. F.; Renner, P. D.; Taniguchi, M.; Yagita, H.; Okumura, K.: Targeted disruption of Traf5 gene causes defects in CD40- and CD27-mediated lymphocyte activation. Proc. Nat. Acad. Sci. 96: 9803-9808, 1999.
[0027296]17884.Nakano, H.; Shindo, M.; Yamada, K.; Yoshida, M. C.; Santee, S. M.; Ware, C. F.; Jenkins, N. A.; Gilbert, D. J.; Yagita, H.; Copeland, N. G.; Okumura, K.: Human TNF receptor-associated factor 5 (TRAF5): cDNA cloning, expression and assignment of the TRAF5 gene to chromosome 1q32. Genomics 42: 26-32, 1997.
[0027297]17885.Augarten, A.; Kerem, B.-S.; Yahav, Y.; Noiman, S.; Rivlin, Y.; Tal, A.; Blau, H.; Ben-Tur, L.; Szeinberg, A.; Kerem, E.; Gazit, E. : Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849 + 10 kb C-to-T mutation. Lancet 342: 25-26, 1993.
[0027298]17886.Bal, J.; Stuhrmann, M.; Schloesser, M.; Schmidtke, J.; Reiss, J. : A cystic fibrosis patient homozygous for the nonsense mutation R553X. J. Med. Genet. 28: 715-717, 1991.
[0027299]17887.Ballabio, A.; Gibbs, R. A.; Caskey, C. T.: PCR test for cystic fibrosis deletion. (Letter) Nature 343: 220 only, 1990.
[0027300]17888.Baylin, S. B.; Rosenstein, B. J.; Marton, L. J.; Lockwood, D. H.: Age-related abnormalities of circulating polyamines and diamine oxidase activity in cystic fibrosis heterozygotes and homozygotes. Pediat. Res. 14: 921-925, 1980.
[0027301]17889.Bienvenu, T.; Beldjord, C.; Adjiman, M.; Kaplan, J. C.: Male infertility as the only presenting sign of cystic fibrosis when homozygous for the mild mutation R117H. (Letter) J. Med. Genet. 30: 797 only, 1993.
[0027302]17890.Bobadilla, J. L.; Macek, M., Jr.; Fine, J. P.; Farrell, P. M. : Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening. Hum. Mutat. 19: 575-606, 2002.
[0027303]17891.Broackes-Carter, F. C.; Mouchel, N.; Gill, D.; Hyde, S.; Bassett, J.; Harris, A.: Temporal regulation of CFTR expression during ovine lung development: implications for CF gene therapy. Hum. Molec. Genet. 11: 125-131, 2002.
[0027304]17892.Brown, C. R.; Hong-Brown, L. Q.; Biwersi, J.; Verkman, A. S.; Welsh, W. J.: Chemical chaperones correct the mutant phenotype of the deltaF508 cystic fibrosis transmembrane conductance regulator protein. Cell Stress Chaperones 1: 117-125, 1996.
[0027305]17893.Burger, J.; Macek, M., Jr.; Stuhrmann, M.; Reis, A.; Krawczak, M.; Schmidtke, J.: Genetic influences in the formation of nasal polyps. (Letter) Lancet 337: 974, 1991.
[0027306]17894.Callen, A.; Diener-West, M.; Zeitlin, P. L.; Rubenstein, R. C. : A simplified cyclic adenosine monophosphate-mediated sweat rate test for quantitative measure of cystic fibrosis transmembrane regulator (CFTR) function. J. Pediat. 137: 849-855, 2000.
[0027307]17895.Casals, T.; Ramos, M. D.; Gimenez, J.; Larriba, S.; Nunes, V.; Estivill, X.; High heterogeneity for cystic fibrosis in Spanish families : 75 mutations account for 90% of chromosomes. Hum. Genet. 101: 365-370, 1997.
[0027308]17896.Casals, T.; Vazquez, C.; Lazaro, C.; Girbau, E.; Gimenez, F. J.; Estivill, X.: Cystic fibrosis in the Basque country: high frequency of mutation delF508 in patients of Basque origin. Am. J. Hum. Genet. 50: 404-410, 1992.
[0027309]17897.Castaldo, G.; Rippa, E.; Salvatore, D.; Sibillo, R.; Raia, V.; de Ritis, G.; Salvatore, F.: Severe liver impairment in a cystic fibrosis-affected child homozygous for the G542X mutation. Am. J. Med. Genet. 69: 155-158, 1997.
[0027310]17898.Chalkley, G.; Harris, A.: A cystic fibrosis patient who is homozygous for the G85E mutation has very mild disease. J. Med. Genet. 28: 875-877, 1991.
[0027311]17899.Chalkley, G.; Harris, A.: Lymphocyte mRNA as a resource for detection of mutations and polymorphism in the CF gene. J. Med. Genet. 28: 777-780, 1991.
[0027312]17900.Chang, X.; Cui, L.; Hou, Y.; Jensen, T. J.; Aleksandrov, A. A.; Mengos, A.; Riordan, J. R.: Removal of multiple arginine-framed trafficking signals overcomes misprocessing of delta-F508 CFTR present in most patients with cystic fibrosis. Molec. Cell 4: 137-142, 1999.
[0027313]17901.Chanson, M.; Scerri, I.; Suter, S.: Defective regulation of gap junctional coupling in cystic fibrosis pancreatic duct cells. J. Clin. Invest. 103: 1677-1684, 1999.
[0027314]17902.Chehab, F. F.; Johnson, J.; Louie, E.; Goossens, M.; Kawasaki, E.; Erlich, H.: A dimorphic 4-bp repeat in the cystic fibrosis gene is in absolute disequilibrium with the delta-F508 mutation: implications for prenatal diagnosis and mutation origin. Am. J. Hum. Genet. 48: 223-226, 1991.
[0027315]17903.Cheng, S. H.; Gregory, R. J.; Marshall, J.; Paul, S.; Souza, D. W.; White, G. A.; O'Riordan, C. R.; Smith, A. E.: Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis. Cell 63: 827-834, 1990.
[0027316]17904.Chillon, M.; Casals, T.; Gimenez, J.; Nunes, V.; Estivill, X. : A cystic fibrosis patient homozygous for the new frameshift mutation 936delTA: description and clinical data. J. Med. Genet. 31: 369-370, 1994.
[0027317]17905.Choi, J. Y.; Muallem, D.; Kiselyov, K.; Lee, M. G.; Thomas, P. J.; Muallem, S.: Aberrant CFTR-dependent HCO(-3) transport in mutations associated with cystic fibrosis. Nature 410: 94-97, 2001.
[0027318]17906.Chu, C.-S.; Trapnell, B. C.; Curristin, S.; Cutting, G. R.; Crystal, R. G.: Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA. Nature Genet. 3: 151-156, 1993.
[0027319]17907.Yost, C.; Farr, G. H., III; Pierce, S. B.; Ferkey, D. M.; Chen, M. M.; Kimelman, D.: GBP, an inhibitor of GSK-3, is implicated in Xenopus development and oncogenesis. Cell 93: 1031-1041, 1998.
[0027320]17908.Fernandez-Valle, C.; Tang, Y.; Ricard, J.; Rodenas-Ruano, A.; Taylor, A.; Hackler, E.; Biggerstaff, J.; Iacovelli, J.: Paxillin binds schwannomin and regulates its density-dependent localization and effect on cell morphology. Nature Genet. 31: 354-362, 2002.
[0027321]17909.Glenney, J. R., Jr.; Zokas, L.: Novel tyrosine kinase substrates from Rous sarcoma virus-transformed cells are present in the membrane skeleton. J. Cell Biol. 108: 2401-2408, 1989.
[0027322]17910.Mazaki, Y.; Hashimoto, S.; Sabe, H.: Monocyte cells and cancer cells express novel paxillin isoforms with different binding properties to focal adhesion proteins. J. Biol. Chem. 272: 7437-7444, 1997.
[0027323]17911.Salgia, R.; Li, J.-L.; Lo, S. H.; Brunkhorst, B.; Kansas, G. S.; Sobhany, E. S.; Sun, Y.; Pisick, E.; Hallek, M.; Ernst, T.; Tantravahi, R.; Chen, L. B.; Griffin, J. D.: Molecular cloning of human paxillin, a focal adhesion protein phosphorylated by P210(BCR/ABL). J. Biol. Chem. 270: 5039-5047, 1995.
[0027324]17912.Turner, C. E.; Glenney, J. R., Jr.; Burridge, K.: Paxillin: a new vinculin-binding protein present in focal adhesions. J. Cell Biol. 111: 1059-1068, 1990.
[0027325]17913.Nguyen, V. T.; Kiss, T.; Michels, A. A.; Bensaude, O.: 7SK small nuclear RNA binds to and inhibits the activity of CDK9/cyclin T complexes. Nature 414: 322-325, 2001.
[0027326]17914.Peng, J.; Zhu, Y.; Milton, J. T.; Price, D. H.: Identification of multiple cyclin subunits of human P-TEFb. Genes Dev. 12: 755-762, 1998.
[0027327]17915.Yang, Z.; Zhu, Q.; Luo, K.; Zhou, Q.: The 7SK small nuclear RNA inhibits the CDK9/cyclin T1 kinase to control transcription. Nature 414: 317-322, 2001.
[0027328]17916.Adachi, H.; Tsujimoto, M.; Hattori, M.; Arai, H.; Inoue, K.: Differential tissue distribution of the beta- and gamma-subunits of human cytosolic platelet-activating factor acetylhydrolase (isoform 1). Biochem. Biophys. Res. Commun. 233: 10-13, 1997.
[0027329]17917.Moro, F.; Arrigo, G.; Fogli, A.; Bernard, L.; Carrozzo, R.: The beta and gamma subunits of the human platelet-activating factor acetyl hydrolase isoform Ib (PAFAH1B2 and PAFAH1B3) map to chromosome 11q23 and 19q13.1, respectively. Genomics 51: 157-159, 1998.
[0027330]17918.Daigo, Y.; Isomura, M.; Nishiwaki, T.; Tamari, M.; Ishikawa, S.; Kai, M.; Murata, Y.; Takeuchi, K.; Yamane, Y.; Hayashi, R.; Minami, M.; Fujino, M. A.; Hojo, Y.; Uchiyama, I.; Takagi, T.; Nakamura, Y. : Characterization of a 1200-kb genomic segment of chromosome 3p22-p21.3. DNA Res. 6: 37-44, 1999.
[0027331]17919.Erlich, R.; Gleeson, P. A.; Campbell, P.; Dietzsch, E.; Toh, B.-H. : Molecular characterization of trans-Golgi p230: a human peripheral membrane protein encoded by a gene on chromosome 6p12-22 contains extensive coiled-coil alpha-helical domains and a granin motif. J. Biol. Chem. 271: 8328-8337, 1996.
[0027332]17920.Barr, F. A.; Nakamura, N.; Warren, G.: Mapping the interaction between GRASP65 and GM130, components of a protein complex involved in the stacking of Golgi cisternae. EMBO J. 17: 3258-3268, 1998.
[0027333]17921.Boguski, M. S.; Lowe, T. M. J.; Tolstochev, C. M.: dbEST:database for 'expressed sequence tags.' (Letter) Nature Genet. 4: 332-333, 1993.
[0027334]17922.Izon, D. J.; Aster, J. C.; He, Y.; Weng, A.; Karnell, F. G.; Patriub, V.; Xu, L.; Bakkour, S.; Rodriguez, C.; Allman, D.; Pear, W. S.: Deltex1 redirects lymphoid progenitors to the B cell lineage by antagonizing Notch1. Immunity 16: 231-243, 2002.
[0027335]17923.Lee, L.; Dowhanick-Morrissette, J.; Katz, A.; Jukofsky, L.; Krantz, I. D.: Chromosomal localization, genomic characterization, and mapping to the Noonan syndrome critical region of the human Deltex (DTX1) gene. Hum. Genet. 107: 577-581, 2000.
[0027336]17924.Matsuno, K.; Eastman, D.; Mitsiades, T.; Quinn, A. M.; Carcanciu, M. L.; Ordentlich, P.; Kadesch, T.; Artavanis-Tsakonas, S.: Human deltex is a conserved regulator of Notch signalling. Nature Genet. 19: 74-78, 1998.
[0027337]17925.Chen, J. J.; Reid, C. E.; Band, V.; Androphy, E. J.: Interaction of papillomavirus E6 oncoproteins with a putative calcium-binding protein. Science 269: 529-531, 1995.
[0027338]17926.Imai, T.; Matsuda, K.; Shimojima, T.; Hashimoto, T.; Masuhiro, Y.; Kitamoto, T.; Sugita, A.; Suzuki, K.; Matsumoto, H.; Masushige, S.; Nogi, Y.; Muramatsu, M.; Handa, H.; Kato, S.: ERC-55, a binding protein for the papilloma virus E6 oncoprotein, specifically interacts with vitamin D receptor among nuclear receptors. Biochem. Biophys. Res. Commun. 233: 765-769, 1997.
[0027339]17927.Wang, J. Y.; Zhen, D. K.; Bianchi, D. W.; Androphy, E. J.; Chen, J. J.: Assignment of the gene for ERC-55 (RCN2) to human chromosome band 15q22.33-q24.1 by in situ hybridization. Cytogenet. Cell Genet. 79: 60-61, 1997.
[0027340]17928.Weis, K.; Griffiths, G.; Lamond, A. I.: The endoplasmic reticulum calcium-binding protein of 55 kDa is a novel EF-hand protein retained in the endoplasmic reticulum by a carboxylterminal His-Asp-Glu-Leu motif. J. Biol. Chem. 269: 19142-19150, 1994.
[0027341]17929.Chan, A. M.-L.; Chedid, M.; McGovern, E. S.; Popescu, N. C.; Miki, T.; Aaronson, S. A.: Expression cDNA cloning of a serine kinase transforming gene. Oncogene 8: 1329-1333, 1993.
[0027342]17930.Bahn, R. S.; Heufelder, A. E.; Dutton, C. M.: A point mutation of the TSH receptor in retro-ocular fibroblasts from a patient with Graves' ophthalmopathy. (Abstract) J. Endocr. Invest. 16 (suppl. 2-6): 30 only, 1993.
[0027343]17931.Moreland, R. J.; Dresser, M. E.; Rodgers, J. S.; Roe, B. A.; Conaway, J. W.; Conaway, R. C.; Hanas, J. S.: Identification of a transcription factor IIIA-interacting protein. Nucleic Acids Res. 28: 1986-1993, 2000.
[0027344]17932.Biebermann, H.; Schoneberg, T.; Hess, C.; Germak, J.; Gudermann, T.; Gruters, A.: The first activating TSH receptor mutation in transmembrane domain 1 identified in a family with nonautoimmune hyperthyroidism. J. Clin. Endocr. Metab. 86: 4429-4433, 2001.
[0027345]17933.de Roux, N.; Polak, M.; Couet, J.; Leger, J.; Czernichow, P.; Milgrom, E.; Misrahi, M.: A neomutation of the thyroid-stimulating hormone receptor in a severe neonatal hyperthyroidism. J. Clin. Endocr. Metab. 81: 2023-2026, 1996.
[0027346]17934.Feliciello, A.; Porcellini, A.; Ciullo, I.; Bonavolonta, G.; Avvedimento, E. V.; Fenzi, G.: Expression of thyrotropin-receptor mRNA in healthy and Graves' disease retro-orbital tissue. Lancet 342: 337-338, 1993.
[0027347]17935.Fuhrer, D.; Holzapfel, H.-P.; Wonerow, P.; Scherbaum, W. A.; Paschke, R.: Somatic mutations in the thyrotropin receptor gene and not in the Gs-alpha protein gene in 31 toxic thyroid nodules. J. Clin. Endocr. Metab. 82: 3885-3891, 1997.
[0027348]17936.Fuhrer, D.; Wonerow, P.; Willgerodt, H.; Paschke, R.: Identification of a new thyrotropin receptor germline mutation (leu629phe) in a family with neonatal onset of autosomal dominant nonautoimmune hyperthyroidism. J. Clin. Endocr. Metab. 82: 4234-4238, 1997.
[0027349]17937.Gabriel, E. M.; Bergert, E. R.; Grant, C. S.; van Heerden, J. A.; Thompson, G. B.; Morris, J. C.: Germline polymorphism of codon 727 of human thyroid-stimulating hormone receptor is associated with toxic multinodular goiter. J. Clin. Endocr. Metab. 84: 3328-3335, 1999.
[0027350]17938.Graves, P.; Pritsker, A.; Davies, T. F.: Post-translational processing of the natural human thyrotropin receptor: demonstration of more than two cleavage sites. J. Clin. Endocr. Metab. 84: 2177-2181, 1999.
[0027351]17939.Gruters, A.; Schoneberg, T.; Biebermann, H.; Krude, H.; Kron, H. P.; Dralle, H.; Gudermann, T.: Severe congenital hyperthyroidism caused by a germ-line neo mutation in the extracellular portion of the thyrotropin receptor. J. Clin. Endocr. Metab. 83: 1431-1436, 1998.
[0027352]17940.Heldin, N.-E.; Gustavsson, B.; Westermark, K.; Westermark, B. : A somatic point mutation in a putative ligand binding domain of the TSH receptor in a patient with autoimmune hyperthyroidism. J. Clin. Endocr. Metab. 73: 1374-1376, 1991.
[0027353]17941.Holzapfel, H.-P.; Wonerow, P.; von Petrykowski, W.; Henschen, M.; Scherbaum, W. A.; Paschke, R.: Sporadic congenital hyperthyroidism due to a spontaneous germline mutation in the thyrotropin receptor gene. J. Clin. Endocr. Metab. 82: 3879-3884, 1997.
[0027354]17942.Khoo, D. H. C.; Parma, J.; Rajasoorya, C.; Ho, S. C.; Vassart, G.: A germline mutation of the thyrotropin receptor gene associated with thyrotoxicosis and mitral valve prolapse in a Chinese family. J. Clin. Endocr. Metab. 84: 1459-1462, 1999.
[0027355]17943.Kopp, P.; Muirhead, S.; Jourdain, N.; Gu, W.-X.; Jameson, J. L.; Rodd, C.: Congenital hyperthyroidism caused by a solitary toxic adenoma harboring a novel somatic mutation (serine281-isoleucine) in the extracellular domain of the thyrotropin receptor. J. Clin. Invest. 100: 1634-1639, 1997.
[0027356]17944.Kopp, P.; van Sande, J.; Parma, J.; Duprez, L.; Gerber, H.; Joss, E.; Jameson, J. L.; Dumont, J. E.; Vassart, G.: Congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene. New Eng. J. Med. 332: 150-154, 1995.
[0027357]17945.Libert, F.; Lefort, A.; Gerard, C.; Parmentier, M.; Perret, J.; Ludgate, M.; Dumont, J. E.; Vassart, G.: Cloning, sequencing and expression of the human thyrotropin (TSH) receptor: evidence for binding of autoantibodies. Biochem. Biophys. Res. Commun. 165: 1250-1255, 1989.
[0027358]17946.Libert, F.; Passage, E.; Lefort, A.; Vassart, G.; Mattei, M.-G. : Localization of human thyrotropin receptor gene to chromosome region 14q31 by in situ hybridization. Cytogenet. Cell Genet. 54: 82-83, 1990.
[0027359]17947.Loosfelt, H.; Pichon, C.; Jolivet, A.; Misrahi, M.; Caillou, B.; Jamous, M.; Vannier, B.; Milgrom, E.: Two-subunit structure of the human thyrotropin receptor. Proc. Nat. Acad. Sci. 89: 3765-3769, 1992.
[0027360]17948.Muhlberg, T.; Herrmann, K.; Joba, W.; Kirchberger, M.; Heberling, H.-J.; Heufelder, A. E.: Lack of association of nonautoimmune hyperfunctioning thyroid disorders and a germline polymorphism of codon 727 of the human thyrotropin receptor in a European Caucasian population. J. Clin. Endocr. Metab. 85: 2640-2643, 2000.
[0027361]17949.Garcia-Barcelo, M.; Law, P. T. W.; Tsui, S. K. W.; Fung, K. P.; Lee, C. Y.; Waye, M. M. Y.: Mapping of the human ribosomal large subunit protein gene RPL29 to human chromosome 3q29-qter. Genomics 46: 148-151, 1997.
[0027362]17950.Kirn-Safran, C. B.; Dayal, S.; Martin-DeLeon, P. A.; Carson, D. D.: Cloning, expression, and chromosome mapping of the murine Hip/Rpl29 gene. Genomics 68: 210-219, 2000.
[0027363]17951.Law, P. T. W.; Tsui, S. K. W.; Lam, W. Y.; Luk, S. C. W.; Hwaang, D. M.; Liew, C. C.; Lee, C. Y.; Fung, K. P.; Waye, M. M. Y.: A novel cDNA encoding a human homologue of ribosomal protein L29. Biochim. Biophys. Acta 1305: 105-108, 1996.
[0027364]17952.Liu, S.; Smith, S. E.; Julian, J.; Rohde, L. H.; Karin, N. J.; Carson, D. D.: cDNA cloning and expression of HIP, a novel cell surface heparan sulfate/heparin-binding protein of human uterine epithelial cells and cell lines. J. Biol. Chem. 271: 11817-11823, 1996.
[0027365]17953.Rohde, L. H.; Julian, J.; Babaknia, A.; Carson, D. D.: Cell surface expression of HIP, a novel heparin/heparan sulfate-binding protein, of human uterine epithelial cells and cell lines. J. Biol. Chem. 271: 11824-11830, 1996.
[0027366]17954.Giachino, C.; Lantelme, E.; Lanzetti, L.; Saccone, S.; Della Valle, G.; Migone, N.: A novel SH3-containing human gene family preferentially expressed in the central nervous system. Genomics 41: 427-434, 1997.
[0027367]17955.So, C. W.; Caldas, C.; Liu, M.-M.; Chen, S.-J.; Huang, Q.-H.; Gu, L.-J.; Sham, M. H.; Wiedemann, L. M.; Chan, L. C.: EEN encodes for a member of a new family of proteins containing an Src homology 3 domain and is the third gene located on chromosome 19p13 that fuses to MLL in human leukemia. Proc. Nat. Acad. Sci. 94: 2563-2568, 1997.
[0027368]17956.Carling, T.; Kindmark, A.; Hellman, P.; Holmberg, L.; Akerstrom, G.; Rastad, J.: Vitamin D receptor alleles b, a, and T: risk factors for sporadic primary hyperparathyroidism (HPT) but not HPT of uremia or MEN1. Biochem. Biophys. Res. Commun. 231: 329-332, 1997.
[0027369]17957.Carling, T.; Rastad, J.; Akerstrom, G.; Westin, G.: Vitamin D receptor (VDR) and parathyroid hormone messenger ribonucleic acid levels correspond to polymorphic VDR alleles in human parathyroid tumors. J. Clin. Endocr. Metab. 83: 2255-2259, 1998.
[0027370]17958.Carling, T.; Ridefelt, P.; Hellman, P.; Rastad, J.; Akerstrom, G.: Vitamin D receptor polymorphisms correlate to parathyroid cell function in primary hyperparathyroidism. J. Clin. Endocr. Metab. 82: 1772-1775, 1997.
[0027371]17959.Correa, P.; Rastad, J.; Schwarz, P.; Westin, G.; Kindmark, A.; Lundgren, E.; Akerstrom, G.; Carling, T.: The vitamin D receptor (VDR) start codon polymorphism in primary hyperparathyroidism and parathyroid VDR messenger ribonucleic acid levels. J. Clin. Endocr. Metab. 84: 1690-1694, 1999.
[0027372]17960.Ensrud, K. E.; Stone, K.; Cauley, J. A.; White, C.; Zmuda, J. M.; Nguyen, T. V.; Eisman, J. A.; Cummings, S. R.: Vitamin D receptor gene polymorphisms and the risk of fractures in older women. J. Bone Miner. Res. 14: 1637-1645, 1999.
[0027373]17961.Ferrari, S.; Manen, D.; Bonjour, J.-P.; Slosman, D.; Rizzoli, R. : Bone mineral mass and calcium and phosphate metabolism in young men: relationships with vitamin D receptor allelic polymorphisms. J. Clin. Endocr. Metab. 84: 2043-2048, 1999.
[0027374]17962.Gennari, L.; Becherini, L.; Masi, L.; Mansani, R.; Gonnelli, S.; Cepollaro, C.; Martini, S.; Montagnani, A.; Lentini, G.; Becorpi, A. M.; Brandi, M. L.: Vitamin D and estrogen receptor allelic variants in Italian postmenopausal women: evidence of multiple gene contribution to bone mineral density. J. Clin. Endocr. Metab. 83: 939-944, 1998.
[0027375]17963.Kristjansson, K.; Rut, A. R.; Hewison, M.; O'Riordan, J. L. H.; Hughes, M. R.: Two mutations in the hormone binding domain of the vitamin D receptor cause tissue resistance to 1,25 dihydroxyvitamin D(3). J. Clin. Invest. 92: 12-16, 1993.
[0027376]17964.Labuda, M.; Ross, M. V.; Fujiwara, T. M.; Morgan, K.; Ledbetter, D.; Hughes, M. R.; Glorieux, F. H.: Two hereditary defects related to vitamin D metabolism map to the same region of human chromosome 12q.II(Abstract) Cytogenet. Cell Genet. 58: 1978, 1991.
[0027377]17965.Jurutka, P. W.; Remus, L. S.; Whitfield, G. K.; Thompson, P. D.; Hsieh, J.-C.; Zitzer, H.; Tavakkoli, P.; Galligan, M. A.; Dang, H. T. L.; Haussler, C. A.; Haussler, M. R.: The polymorphic N terminus in human vitamin D receptor isoforms influences transcriptional activity by modulating interaction with transcription factor IIB. Molec. Endocr. 14: 401-420, 2000.
[0027378]17966.Lin, U.-T.; Malloy, P. J.; Sakati, N.; Al-Ashwal, A.; Feldman, D.: A novel mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor causes hereditary 1,25-dihydroxyvitamin D-resistant rickets. J. Clin. Endocr. Metab. 81: 2564-2569, 1996.
[0027379]17967.Lorentzon, M.; Lorentzon, R.; Nordstrom, P.: Vitamin D receptor gene polymorphism is associated with birth height, growth to adolescence, and adult stature in healthy Caucasian men: a cross-sectional and longitudinal study. J. Clin. Endocr. Metab. 85: 1666-1671, 2000.
[0027380]17968.Makishima, M.; Lu, T. T.; Xie, W.; Whitfield, G. K.; Domoto, H.; Evans, R. M.; Haussler, M. R.; Mangelsdorf, D. J.: Vitamin D receptor as an intestinal bile acid sensor. Science 296: 1313-1316, 2002.
[0027381]17969.Mechica, J. B.; Leite, M. O. R.; Mendonca, B. B.; Frazzatto, E. S. T.; Borelli, A.; Latronico, A. C.: A novel nonsense mutation in the first zinc finger of the vitamin D receptor causing hereditary 1,25-dihydroxyvitamin D(3)-resistant rickets. J. Clin. Endocr. Metab. 82: 3892-3894, 1997.
[0027382]17970.Furlan, M.; Robles, R.; Galbusera, M.; Remuzzi, G.; Kyrle, P. A.; Brenner, B.; Krause, M.; Scharrer, I.; Aumann, V.; Mittler, U.; Solenthaler, M.; Lammle, B.: Von Willebrand factor-cleaving protease in thrombotic thrombocytopenic purpura and the hemolytic-uremic syndrome. New Eng. J. Med. 339: 1578-1584, 1998.
[0027383]17971.Furlan, M.; Robles, R.; Lammle, B.: Partial purification and characterization of a protease from human plasma cleaving von Willebrand factor to fragments produced by in vivo proteolysis. Blood 87: 4223-4234, 1996.
[0027384]17972.Nichols, A. F.; Ong, P.; Linn, S.: Mutations specific to the xeroderma pigmentosum group E Ddb- phenotype. J. Biol. Chem. 271: 24317-24320, 1996.
[0027385]17973.Itoh, T.; Linn, S.; Kamide, R.; Tokushige, H.; Katori, N.; Hosaka, Y.; Yamaizumi, M.: Xeroderma pigmentosum variant heterozygotes show reduced levels of recovery of replicative DNA synthesis in the presence of caffeine after ultraviolet irradiation. J. Invest. Derm. 115: 981-985, 2000.
[0027386]17974.Shisheva, A.; Sudhof, T. C.; Czech, M. P.: Cloning, characterization, and expression of a novel GDP dissociation inhibitor isoform from skeletal muscle. Molec. Cell. Biol. 14: 3459-3468, 1994.
[0027387]17975.Fathi, Z.; Corjay, M. H.; Shapira, H.; Wada, E.; Benya, R.; Jensen, R.; Viallet, J.; Sausville, E. A.; Battey, J. F.: BRS-3: a novel bombesin receptor subtype selectively expressed in testis and lung carcinoma cells. J. Biol. Chem. 268: 5979-5984, 1993.
[0027388]17976.Gorbulev, V.; Akhundova, A.; Grzeschik, K. H.; Fahrenholz, F.: Organization and chromosomal localization of the gene for the human bombesin receptor subtype expressed in pregnant uterus. FEBS Lett. 340: 260-264, 1994.
[0027389]17977.Ohki-Hamazaki, H.; Watase, K.; Yamamoto, K.; Ogura, H.; Yamano, M.; Yamada, K.; Maeno, H.; Imaki, J.; Kikuyama, S.; Wada, E.; Wada, K.: Mice lacking bombesin receptor subtype-3 develop metabolic defects and obesity. Nature 390: 166-169, 1997.
[0027390]17978.Banfi, S.; Borsani, G.; Bulfone, A.; Ballabio, A.: Drosophila-related expressed sequences. Hum. Molec. Genet. 6: 1745-1753, 1997.
[0027391]17979.Castrillon, D. H.; Wasserman, S. A.: Diaphanous is required for cytokinesis in Drosophila and shares domains of similarity with the products of the limb deformity gene. Development 120: 3367-3377, 1994.
[0027392]17980.Philippe, C.; Cremers, F. P. M.; Chery, M.; Bach, I.; Abbadi, N.; Ropers, H. H.; Gilgenkrantz, S.: Physical mapping of DNA markers in the q13-q22 region of the human X chromosome. Genomics 17: 147-152, 1993.
[0027393]17981.Bione, S.; Sala, C.; Manzini, C.; Arrigo, G.; Zuffardi, O.; Banfi, S.; Borsani, G.; Jonveaux, P.; Philippe, C.; Zuccotti, M.; Ballabio, A.; Toniolo, D.: A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. Am. J. Hum. Genet. 62: 533-541, 1998.
[0027394]17982.Sala, C.; Arrigo, G.; Torri, G.; Martinazzi, F.; Riva, P.; Larizza, L.; Philippe, C.; Jonveaux, P.; Sloan, F.; Labella, T.; Toniolo, D. : Eleven X chromosome breakpoints associated with premature ovarian failure (POF) map to a 15-Mb YAC contig spanning Xq21. Genomics 40: 123-131, 1997.
[0027395]17983.Jagla, W. M.; Jagle, H.; Hayashi, T.; Sharpe, L. T.; Deeb, S. S.: The molecular basis of dichromatic color vision in males with multiple red and green visual pigment genes. Hum. Molec. Genet. 11: 23-32, 2002.
[0027396]17984.Huijing, F.; Fernandez, J.: X-chromosomal inheritance of liver glycogenosis with phosphorylase kinase deficiency. Am. J. Hum. Genet. 21: 275-284, 1969.
[0027397]17985.Franco, B.; Guioli, S.; Pragliola, A.; Incerti, B.; Bardoni, B.; Tonlorenzi, R.; Carrozzo, R.; Maestrini, E.; Pieretti, M.; Taillon-Miller, P.; Brown, C. J.; Willard, H. F.; Lawrence, C.; Persico, M. G.; Camerino, G.; Ballabio, A.: A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. Nature 353: 529-536, 1991.
[0027398]17986.Lachner, M.; O'Carroll, D.; Rea, S.; Mechtler, K.; Jenuwein, T. : Methylation of histone H3 lysine 9 creates a binding site for HP1 proteins. Nature 410: 116-120, 2001.
[0027399]17987.Melcher, M.; Schmid, M.; Aagaard, L.; Selenko, P.; Laible, G.; Jenuwein, T.: Structure-function analysis of SUV39H1 reveals a dominant role in heterochromatin organization, chromosome segregation, and mitotic progression. Molec. Cell Biol. 20: 3728-3841, 2000.
[0027400]17988.Nielsen, S. J.; Schneider, R.; Bauer, U.-M.; Bannister, A. J.; Morrison, A.; O'Carroll, D.; Firestein, R.; Cleary, M.; Jenuwein, T.; Herrera, R. E.; Kouzarides, T.: Rb targets histone H3 methylation and HP1 to promoters. Nature 412: 561-565, 2001.
[0027401]17989.Peters, A. H. F. M.; O'Carroll, D.; Scherthan, H.; Mechtler, K.; Sauer, S.; Schofer, C.; Weipoltshammer, K.; Pagani, M.; Lachner, M.; Kohlmaier, A.; Opravil, S.; Doyle, M.; Sibilia, M.; Jenuwein, T.: Loss of the Suv39h histone methyltransferases impairs mammalian heterochromatin and genome stability. Cell 107: 323-337, 2001.
[0027402]17990.Rea, S.; Eisenhaber, F.; O'Carroll, D.; Strahl, B. D.; Sun, Z.-W.; Schmid, M.; Opravil, S.; Mechtler, K.; Ponting, C. P.; Allis, C. D.; Jenuwein, T.: Regulation of chromatin structure by sitespecific histone H3 methyltransferases. Nature 406: 593-599, 2000.
[0027403]17991.Scott, A. F.: Personal Communication. Baltimore, Md. 8/7/2000.
[0027404]17992.Haltiwanger, R. S.; Blomberg, M. A.; Hart, G. W.: Glycosylation of nuclear and cytoplasmic proteins: purification and characterization of a uridine diphospho-Nacetylglucosamine: polypeptide beta-N-acetylglucosaminyltransferase. J. Biol. Chem. 267: 9005-9013, 1992.
[0027405]17993.Kreppel, L. K.; Blomberg, M. A.; Hart, G. W.: Dynamic glycosylation of nuclear and cytosolic proteins: cloning and characterization of a unique O-GlcNAc transferase with multiple tetratricopeptide repeats. J. Biol. Chem. 272: 9308-9315, 1997.
[0027406]17994.Lubas, W. A.; Frank, D. W.; Krause, M.; Hanover, J. A.: O-linked GlcNAc transferase is a conserved nucleocytoplasmic protein containing tetratricopeptide repeats. J. Biol. Chem. 272: 9316-9324, 1997.
[0027407]17995.Shafi, R.; Iyer, S. P. N.; Ellies, L. G.; O'Donnell, N.; Marek, K. W.; Chui, D.; Hart, G. W.; Marth, J. D.: The O-GlcNAc transferase gene resides on the X chromosome and is essential for embyronic stem cell viability and mouse ontogeny. Proc. Nat. Acad. Sci. 97: 5735-5739, 2000.
[0027408]17996.Yang, X.; Zhang, F.; Kudlow, J. E.: Recruitment of O-GlcNAc transferase to promoters by corepressor mSin3A: coupling protein O-GlcNAcylation to transcriptional repression. Cell 110: 69-80, 2002.
[0027409]17997.Danon, M. J.; Oh, S. J.; DiMauro, S.; Manaligod, J. R.; Eastwood, A.; Naidu, S.; Schliselfeld, L. H.: Lysosomal glycogen storage disease with normal acid maltase. Neurology 31: 51-57, 1981.
[0027410]17998.Dworzak, F.; Casazza, F.; Mora, C. M.; De Maria, R.; Gronda, E.; Baroldi, G.; Rimoldi, M.; Morandi, L.; Cornelio, F.: Lysosomal glycogen storage with normal acid maltase: a familial study with successful heart transplant. Neuromusc. Disord. 4: 243-247, 1994.
[0027411]17999.Liu, Y.; Hoffmann, A.; Grinberg, A.; Westphal, H.; McDonald, M. P.; Miller, K. M.; Crawley, J. N.; Sandhoff, K.; Suzuki, K.; Proia, R. L.: Mouse model of GM2 activator deficiency manifests cerebellar pathology and motor impairment. Proc. Nat. Acad. Sci. 94: 8138-8143, 1997.
[0027412]18000.Mahuran, D. J.: Personal Communication. Toronto, Ontario, Canada 12/1/1994.
[0027413]18001.O'Neill, B.; Butler, A. B.; Young, E.; Falk, P. M.; Bass, N. H. : Adult-onset Gm2-gangliosidosis: seizures, dementia, and normal pressure hydrocephalus associated with glycolipid storage in the brain and arachnoid granulation. Neurology 28: 1117-1123, 1978.
[0027414]18002.Phillips, J. A., III: Personal Communication. Baltimore, Md. 8/11/1983.
[0027415]18003.Sakuraba, H.; Itoh, K.; Shimmoto, M.; Utsumi, K.; Kase, R.; Hashimoto, Y.; Ozawa, T.; Ohwada, Y.; Imataka, G.; Eguchi, M.; Furukawa, T.; Schepers, U.; Sandhoff, K.: GM2 gangliosidosis AB variant: clinical and biochemical studies of a Japanese patient. Neurology 52: 372-377, 1999.
[0027416]18004.Schepers, U.; Glombitza, G.; Lemm, T.; Hoffmann, A.; Chabas, A.; Ozand, P.; Sandhoff, K.: Molecular analysis of a GM2-activator deficiency in two patients with GM2-gangliosidosis AB variant. Am. J. Hum. Genet. 59: 1048-1056, 1996.
[0027417]18005.Schroder, M.; Schnabel, D.; Hurwitz, R.; Young, E.; Suzuki, K.; Sandhoff, K.: Molecular genetics of GM2-gangliosidosis AB variant: a novel mutation and expression in BHK cells. Hum. Genet. 92: 437-440, 1993.
[0027418]18006.Schroder, M.; Schnabel, D.; Suzuki, K.; Sandhoff, K.: A mutation in the gene of a glycolipid-binding protein (GM2 activator) that causes GM2-gangliosidosis variant AB. FEBS Lett. 290: 1-3, 1991.
[0027419]18007.Swallow, D. M.; Islam, I.; Fox, M. F.; Povey, S.; Klima, H.; Schepers, U.; Sandhoff, K.: Regional localization of the gene coding for the GM2 activator protein (GM2A) to chromosome 5q32-33 and confirmation of the assignment of GM2AP to chromosome 3. Ann. Hum. Genet. 57: 187-193, 1993.
[0027420]18008.Valentine, C. R.; Heflich, R. H.: The association of nonsense mutations with exonskipping in hprt mRNA of Chinese hamster ovary cells results from an artifact of RT-PCR. RNA 3: 660-676, 1997.
[0027421]18009.Xie, B.; Kennedy, J. L.; McInnes, B.; Auger, D.; Mahuran, D.: Identification of a processed pseudogene related to the functional gene encoding the G-M2 activator protein: localization of the pseudogene to human chromosome 3 and the functional gene to human chromosome 5. Genomics 14: 796-798, 1992.
[0027422]18010.Xie, B.; Wang, W.; Mahuran, D. J.: A cys138-to-arg substitution in the G-M2 activator protein is associated with the AB variant form of G-M2 gangliosidosis. Am. J. Hum. Genet. 50: 1046-1052, 1992.
[0027423]18011.Yamanaka, S.; Johnson, O. N.; Lyu, M. S.; Kozak, C. A.; Proia, R. L.: The mouse gene encoding the G(M2) activator protein (Gm2a): cDNA sequence, expression, and chromosome mapping. Genomics 24: 601-604, 1994.
[0027424]18012.Ainsworth, P. J.; Coulter-Mackie, M. B.: A double mutation in exon 6 of the betahexosaminidase alpha subunit in a patient with the B1 variant of Tay-Sachs disease. Am. J. Hum. Genet. 51: 802-809, 1992.
[0027425]18013.Akalin, N.; Shi, H.-P.; Vavougios, G.; Hechtman, P.; Lo, W.; Scriver, C. R.; Mahuran, D.; Kaplan, F.: Novel Tay-Sachs disease mutations from China. Hum. Mutat. 1: 40-46, 1992.
[0027426]18014.Akerman, B. R.; Zielenski, J.; Triggs-Raine, B. L.; Prence, E. M.; Natowicz, M. R.; Lim-Steele, J. S. T.; Kaback, M. M.; Mules, E. H.; Thomas, G. H.; Clarke, J. T. R.; Gravel, R. A.: A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studies. Hum. Mutat. 1: 303-309, 1992.
[0027427]18015.Akli, S.; Chelly, J.; Lacorte, J.; Poenaru, L.; Kahn, A.: Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments. Genomics 11: 124-134, 1991.
[0027428]18016.Akli, S.; Chomel, J.-C.; Lacorte, J.-M.; Bachner, L.; Poenaru, A.; Poenaru, L.: Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients. Hum. Molec. Genet. 2: 61-67, 1993.
[0027429]18017.Lyons, L. B.; Cox, R. P.; Dancis, J.: Complementation analysis of maple syrup urine disease in heterokaryons derived from cultured human fibroblasts. Nature 243: 533-535, 1973.
[0027430]18018.Singh, S.; Willers, I.; Goedde, H. W.: Heterogeneity in maple syrup urine disease: aspects of cofactor requirement and complementation in cultured fibroblasts. Clin. Genet. 11: 277-284, 1977.
[0027431]18019.Ohno, K.; Brengman, J.; Tsujino, A.; Engel, A. G.: Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme. Proc. Nat. Acad. Sci. 95: 9654-9659, 1998.
[0027432]18020.Schwartz, J. M.; Reiss, A. L.; Jaffe, E. R.: Hereditary methemoglobinemia with deficiency of NADH cytochrome b5 reductase.In: Stanbury, J. B.; Wyngaarden, J. B.; Fredrickson, D. S.; Goldstein, J. L.; Brown, M. S.: The Metabolic Basis of Inherited Disease. New York: McGraw-Hill (pub.) (5th ed.): 1983. Pp. 1654-1665.
[0027433]18021.Scott, E. M.: The relationship of diaphorase of human erythrocytes to inheritance of methemoglobinemia. J. Clin. Invest. 39: 1176-1179, 1960.
[0027434]18022.Scott, E. M.; Lewis, M.; Kaita, H.; Chown, B.; Giblett, E. R. : The absence of close linkage of methemoglobinemia and blood group loci. Am. J. Hum. Genet. 15: 493-494, 1963.
[0027435]18023.Scott, E. M.; Wright, R. C.: The absence of close linkage of methemoglobinemia and other loci. Am. J. Hum. Genet. 21: 194-195, 1969.
[0027436]18024.Shirabe, K.: Personal Communication. Oita, Japan 7/21/1997.
[0027437]18025.Shirabe, K.; Fujimoto, Y.; Yubisui, T.; Takeshita, M.: An in-frame deletion of codon 298 of the NADH-cytochrome b(5) reductase gene results in hereditary methemoglobinemia type II (generalized type): a functional implication for the role of the COOH-terminal region of the enzyme. J. Biol. Chem. 269: 5952-5957, 1994.
[0027438]18026.Shirabe, K.; Landi, M. T.; Takeshita, M.; Uziel, G.; Fedrizzi, E.; Borgese, N.: A novel point mutation in a 3-prime splice site of the NADH-cytochrome b5 reductase gene results in immunologically undetectable enzyme and impaired NADH-dependent ascorbate regeneration in cultured fibroblasts of a patient with type II hereditary methemoglobinemia. Am. J. Hum. Genet. 57: 302-310, 1995.
[0027439]18027.Shirabe, K.; Yubisui, T.; Borgese, N.; Tang, C.; Hultquist, D. E.; Takeshita, M.: Enzymatic instability of NADH-cytochrome b5 reductase as a cause of hereditary methemoglobinemia type I (red cell type). J. Biol. Chem. 267: 20416-20421, 1992.
[0027440]18028.Tanishima, K.; Matsuki, T.; Fukuda, N.; Takeshita, M.; Yoneyama, Y.: NADHcytochrome b5 reductase in platelets and leukocytes with special reference to normal levels and to levels in carriers of hereditary methemoglobinemia with or without neurological symptoms. Acta Haemat. 63: 7-12, 1980.
[0027441]18029.Tanishima, K.; Tanimoto, K.; Tomoda, A.; Mawatari, K.; Matsukawa, S.; Yoneyama, Y.; Ohkuwa, H.; Takazakura, E.: Hereditary methemoglobinemia due to cytochrome b(5) reductase deficiency in blood cells without associated neurologic and mental disorders. Blood 66: 1288-1291, 1985.
[0027442]18030.Tomatsu, S.; Kobayashi, Y.; Fukumaki, Y.; Yubisui, T.; Orii, T.; Sakaki, Y.: The organization and the complete nucleotide sequence of the human NADH-cytochrome b5 reductase gene. Gene 80: 353-361, 1989.
[0027443]18031.Townes, P. L.; Morrison, M.: Investigation of the defect in a variant of hereditary methemoglobinemia. Blood 19: 60-74, 1962.
[0027444]18032.Trost, C.: The Blue People of Troublesome Creek. Science 82 (Nov.): 35-39, 1982.
[0027445]18033.Vieira, L. M.; Kaplan, J.-C.; Kahn, A.; Leroux, A.: Four new mutations in the NADHcytochrome b5 reductase gene from patients with recessive congenital methemoglobinemia type II. Blood 85: 2254-2262, 1995.
[0027446]18034.Vives-Corrons, J. L.; Pujades, A.; Vela, E.; Corretger, J. M.; Leroux, A.; Kaplan, J. C.: Congenital methemoglobin-reductase (cytochrome b5 reductase) deficiency associated with mental retardation in a Spanish girl. Acta Haemat. 59: 348-353, 1978.
[0027447]18035.Waller, H. D.: Inherited methemoglobinemia (enzyme deficiencies). Humangenetik 9: 217-218, 1970.
[0027448]18036.Wang, Y.; Wu, Y.-S.; Zheng, P.-Z.; Yang, W.-X.; Fang, G.-A.; Tang, Y.-C.; Xie, F.; Lan, F.-H.; Zhu, Z.-Y.: A novel mutation in the NADH-cytochrome b5 reductase gene of a Chinese patient with recessive congenital methemoglobinemia. Blood 95: 3250-3255, 2000.
[0027449]18037.West, C. A.; Gomperts, B. D.; Huehns, E. R.; Kessel, I.; Ashby, J. R.: Demonstration of an enzyme variant in a case of congenital methaemoglobinaemia. Brit. Med. J. 4: 212-214, 1967.
[0027450]18038.Worster-Drought, C.; White, J. C.; Sargent, F.: Familial, idiopathic methaemoglobinaemia associated with mental deficiency and neurological abnormalities. Brit. Med. J. 2: 114-118, 1953.
[0027451]18039.Wu, Y.-S.; Huang, C.-H.; Wan, Y.; Huang, Q.-J.; Zhu, Z.-Y.: Identification of a novel point mutation (leu72-to-pro) in the NADH-cytochrome b5 reductase gene of a patient with hereditary methaemoglobinaemia type I. Brit. J. Haemat. 102: 575-577, 1998.
[0027452]18040.Yubisui, T.; Miyata, T.; Iwanaga, S.; Tamura, M.; Takeshita, M. : Complete amino acid sequence of NADH-cytochrome b5 reductase purified from human erythrocytes. J. Biochem. 99: 407-422, 1986.
[0027453]18041.Yubisui, T.; Naitoh, Y.; Zenno, S.; Tamura, M.; Takeshita, M.; Sakaki, Y.: Molecular cloning of cDNAs of human liver and placenta NADH-cytochrome b(5) reductase. Proc. Nat. Acad. Sci. 84: 3609-3613, 1987.
[0027454]18042.Yubisui, T.; Shirabe, K.; Takeshita, M.; Kobayashi, Y.; Fukumaki, Y.; Sakaki, Y.; Takano, T.: Structural role of serine 127 in the NADH-binding site of human NADH-cytochrome b5 reductase. J. Biol. Chem. 266: 66-70, 1991.
[0027455]18043.Alvarez, L.; Corrales, F.; Martin-Duce, A.; Mato, J. M.: Characterization of a fulllength cDNA encoding human liver S-adenosylmethionine synthetase: tissue-specific gene expression and mRNA levels in hepatopathies. Biochem. J. 293: 481-486, 1993.
[0027456]18044.Blom, H. J.; Davidson, A. J.; Finkelstein, J. D.; Luder, A. S.; Bernardini, I.; Martin, J. J.; Tangerman, A.; Trijbels, J. M. F.; Mudd, S. H.; Goodman, S. I.; Gahl, W. A.: Persistent hypermethioninaemia with dominant inheritance. J. Inherit. Metab. Dis. 15: 188-197, 1992.
[0027457]18045.Cabrero, C.; Puerta, J.; Alemany, S.: Purification and comparison of two forms of Sadenosyl-L-methionine synthetase from rat liver. Europ. J. Biochem. 170: 299-304, 1987.
[0027458]18046.Chamberlin, M. E.; Ubagai, T.; Mudd, S. H.; Levy, H. L.; Chou, J. Y.: Dominant inheritance of isolated hypermethioninemia is associated with a mutation in the human methionine adenosyltransferase 1A gene. Am. J. Hum. Genet. 60: 540-546, 1997.
[0027459]18047.Chamberlin, M. E.; Ubagai, T.; Mudd, S. H.; Thomas, J.; Pao, V. Y.; Nguyen, T. K.; Levy, H. L.; Greene, C.; Freehauf, C.; Chou, J. Y.: Methionine adenosyltransferase I/III deficiency: novel mutations and clinical variations. Am. J. Hum. Genet. 66: 347-355, 2000.
[0027460]18048.Chamberlin, M. E.; Ubagai, T.; Mudd, S. H.; Wilson, W. G.; Leonard, J. V.; Chou, J. Y.: Demyelination of the brain is associated with methionine adenosyltransferase I/III deficiency. J. Clin. Invest. 98: 1021-1027, 1996.
[0027461]18049.Finkelstein, J. D.; Kyle, W. E.; Martin, J. J.: Abnormal methionine adenosyltransferase in hypermethioninemia. Biochem. Biophys. Res. Commun. 66: 1491-1497, 1975.
[0027462]18050.Lim, L. E.; Duclos, F.; Broux, O.; Bourg, N.; Sunada, Y.; Allamand, V.; Meyer, J.; Richard, I.; Moomaw, C.; Slaughter, C.; Tome, F. M. S.; Fardeau, M.; Jackson, C. E.; Beckmann, J. S.; Campbell, K. P. : Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nature Genet. 11: 257-265, 1995.
[0027463]18051.Passos-Bueno, M. R.; Vainzof, M.; Moreira, E. S.; Zatz, M.: Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G. Am. J. Med. Genet. 82: 392-398, 1999.
[0027464]18052.Jarvela, I.: Infantile neuronal ceroid lipofuscinosis (CLN1): linkage disequilibrium in the Finnish population and evidence that variant late infantile form (variant CLN2) represents a nonallelic locus. Genomics 10: 333-337, 1991.
[0027465]18053.Nishiyama, K.; Funai, T.; Katafuchi, R.; Hattori, F.; Onoyama, K.; Ichiyama, A.: Primary hyperoxaluria type I due to a point mutation of T to C in the coding region of the serine:pyruvate aminotransferase gene. Biochem. Biophys. Res. Commun. 176: 1093-1099, 1991.
[0027466]18054.Pirulli, D.; Puzzer, D.; Ferri, L.; Crovella, S.; Amoroso, A.; Ferrettini, C.; Marangella, M.; Mazzola, G.; Florian, F.: Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine:glyoxylate aminotransferase gene. Hum. Genet. 104: 523-525, 1999.
[0027467]18055.Watts, R. W. E.; Calne, R. Y.; Rolles, K.; Danpure, C. J.; Morgan, S. H.; Mansell, M. A.; Williams, R.; Purkiss, P.: Successful treatment of primary hyperoxaluria type I by combined hepatic and renal transplantation. Lancet II: 474-475, 1987.
[0027468]18056.Argoff, C. E.; Kaneski, C. R.; Blanchette-Mackie, E. J.; Comly, M.; Dwyer, N. K.; Brown, A.; Brady, R. O.; Pentchev, P. G.: Type C Niemann-Pick disease: documentation of abnormal LDL processing in lymphocytes. Biochem. Biophys. Res. Commun. 171: 38-45, 1990.
[0027469]18057.Natt, E.; Kida, K.; Odievre, M.; Di Rocco, M.; Scherer, G.: Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II. Proc. Nat. Acad. Sci. 89: 9297-9301, 1992.
[0027470]18058.Brenner, V.; Nyakatura, G.; Rosenthal, A.; Platzer, M.: Genomic organization of two novel genes on human Xq28: compact head to head arrangement of IDH-gamma and TRAP-delta is conserved in rat and mouse. Genomics 44: 8-14, 1997.
[0027471]18059.Achen, M. G.; Jeltsch, M.; Kukk, E.; Makinen, T.; Vitali, A.; Wilks, A. F.; Alitalo, K.; Stacker, S. A.: Vascular endothelial growth factor D (VEGF-D) is a ligand for the tyrosine kinases VEGF receptor 2 (Flk1) and VEGF receptor 3 (Flt4). Proc. Nat. Acad. Sci. 95: 548-553, 1998.
[0027472]18060.Stacker, S. A.; Caesar, C.; Baldwin, M. E.; Thornton, G. E.; Williams, R. A.; Prevo, R.; Jackson, D. G.; Nishikawa, S.; Kubo, H.; Achen, M. G.: VEGF-D promotes the metastatic spread of tumor cells via the lymphatics. Nature Med. 7: 186-191, 2001.
[0027473]18061.Yamada, Y.; Nezu, J.; Shimane, M.; Hirata, Y.: Molecular cloning of a novel vascular endothelial growth factor, VEGF-D. Genomics 42: 483-488, 1997.
[0027474]18062.Davies, P. A.; Hanna, M. C.; Hales, T. G.; Kirkness, E. F.: Insensitivity to anaesthetic agents conferred by a class of GABA(A) receptor subunit. Nature 385: 820-823, 1997.
[0027475]18063.Sinkkonen, S. T.; Hanna, M. C.; Kirkness, E. F.; Korpi, E. R.: GABA-A receptor epsilon and theta subunits display unusual structural variation between species and are enriched in the rat locus ceruleus. J. Neurosci. 20: 3588-3595, 2000.
[0027476]18064.Wilke, K.; Gaul, R.; Klauck, S. M.; Poustka, A.: A gene in human chromosome band Xq28 (GABRE) defines a putative new subunit class of the GABA(A) neurotransmitter receptor. Genomics 45: 1-10, 1997.
[0027477]18065.Mazzarella, R.; Ciccodicola, A.; Esposito, T.; Arcucci, A.; Migliaccio, C.; Jones, C.; Schlessinger, D.; D'Urso, M.; D'Esposito, M.: Human protein kinase C iota gene (PRKCI) is closely linked to the BTK gene in Xq21.3. Genomics 26: 629-631, 1995.
[0027478]18066.Lafreniere, R. G.; Carrel, L.; Willard, H. F.: A novel transmembrane transporter encoded by the XPCT gene in Xq13.2. Hum. Molec. Genet. 3: 1133-1139, 1994.
[0027479]18067.Baric, I.; Sarnavka, V.; Fumic, K.; Maradin, M.; Begovic, D.; Ruiter, J. P. N.; Wanders, R. J. A.: A new case of succinyl-CoA:acetoacetate transferase deficiency: favourable course despite very low residual activity. J. Inherit. Metab. Dis. 24: 81-82, 2001.
[0027480]18068.Berry, G. T.; Fukao, T.; Mitchell, G. A.; Mazur, A.; Ciafre, M.; Gibson, J.; Kondo, N.; Palmieri, M. J.: Neonatal hypoglycaemia in severe succinyl-CoA:3-oxoacid CoA-transferase deficiency. J. Inherit. Metab. Dis. 24: 587-595, 2001.
[0027481]18069.Fukao, T.; Mitchell, G. A.; Song, X.-Q.; Nakamura, H.; Kassovska-Bratinova, S.; Orii, K. E.; Wraith, J. E.; Besley, G.; Wanders, R. J. A.; Niezen-Koning, K. E.; Berry, G. T.; Palmieri, M.; Kondo, N.: Succinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations. Genomics 68: 144-151, 2000.
[0027482]18070.Fukao, T.; Song, X.-Q.; Watanabe, H.; Hirayama, K.; Sakazaki, H.; Shintaku, H.; Imanaka, M.; Orii, T.; Kondo, N.: Prenatal diagnosis of succinyl-coenzyme A:3-ketoacid coenzyme A transferase deficiency. Prenatal Diag. 16: 471-474, 1996.
[0027483]18071.Kassovska-Bratinova, S.; Fukao, T.; Song, X.-Q.; Duncan, A. M. V.; Chen, H. S.; Robert, M.-F.; Perez-Cerda, C.; Ugarte, M.; Chartrand, C.; Vobecky, S.; Kondo, N.; Mitchell, G. A.: Succinyl CoA:3-oxoacid CoA transferase (SCOT): human cDNA cloning, human chromosomal mapping to 5p13, and mutation detection in a SCOT-deficient patient. Am. J. Hum. Genet. 59: 519-528, 1996.
[0027484]18072.Middleton, B.; Day, R.; Lombes, A.; Saudubray, J. M.: Infantile ketoacidosis associated with decreased activity of succinyl-CoA:3-ketoacid CoA-transferase. J. Inherit. Metab. Dis. 10 (suppl. 2): 273-275, 1987.
[0027485]18073.Mitchell, G. A.; Kassovska-Bratinova, S.; Boukaftane, Y.; Robert, M.-F.; Wang, S. P.; Ashmarina, L.; Lambert, M.; Lapierre, P.; Potier, E.: Medical aspects of ketone body metabolism. Clin. Invest. Med. 18: 193-216, 1995.
[0027486]18074.Niezen-Koning, K. E.; Wanders, R. J. A.; Ruiter, J. P. N.; Ijlst, L.; Visser, G.; Reitsma-Bierens, W. C. C.; Heymans, H. S. A.; Reijngoud, D. J.; Smit, G. P. A.: Succinyl-CoA:acetoacetate transferase deficiency: identification of a new patient with a neonatal onset and review of the literature. Europ. J. Pediat. 156: 870-873, 1997.
[0027487]18075.Perez-Cerda, C.; Merinero, B.; Sanz, P.; Jimenez, A.; Hernandez, C.; Garcia, M. J.; Ugarte, M.: A new case of succinyl-CoA:acetoacetate transferase deficiency. J. Inherit. Metab. Dis. 15: 371-373, 1992.
[0027488]18076.Sakazaki, H.; Hirayama, K.; Murakami, S.; Yonezawa, S.; Shintaku, H.; Sawada, Y.; Fukao, T.; Watanabe, H.; Orii, T.; Isshiki, G.: A new Japanese case of succinyl-CoA:3-ketoacid CoAtransferase deficiency. J. Inherit. Metab. Dis. 18: 323-325, 1995.
[0027489]18077.Snyderman, S. E.; Sansaricq, C.; Middleton, B.: Succinyl-CoA:3-ketoacid CoAtransferase deficiency. Pediatrics 101: 709-711, 1998.
[0027490]18078.D'Adamo, P.; Fassone, L.; Gedeon, A.; Janssen, E. A. M.; Bione, S.; Bolhuis, P. A.; Barth, P. G.; Wilson, M.; Haan, E.; Orstavik, K. H.; Patton, M. A.; Green, A. J.; Zammarchi, E.; Donati, M. A.; Toniolo, D.: The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. Am. J. Hum. Genet. 61: 862-867, 1997.
[0027491]18079.Gedeon, A. K.; Wilson, M. J.; Colley, A. C.; Sillence, D. O.; Mulley, J. C.: X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome. J. Med. Genet. 32: 383-388, 1995.
[0027492]18080.Gecz, J.; Baker, E.; Donnelly, A.; Ming, J. E.; McDonald-McGinn, D. M.; Spinner, N. B.; Zackai, E. H.; Sutherland, G. R.; Mulley, J. C.: Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Borjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient. Hum. Genet. 104: 56-63, 1999.
[0027493]18081.Lovec, H.; Hartung, H.; Verdier, A.-S.; Mattei, M.-G.; Birnbaum, D.; Goldfarb, M.; Coulier, F.: Assignment of FGF13 to human chromosome band Xq21 by in situ hybridization. Cytogenet. Cell Genet. 76: 183-184, 1997.
[0027494]18082.Smallwood, P. M.; Munoz-Sanjuan, I.; Tong, P.; Macke, J. P.; Hendry, S. H. C.; Gilbert, D. J.; Copeland, N. G.; Jenkins, N. A.; Nathans, J.: Fibroblast growth factor (FGF) homologous factors: new members of the FGF family implicated in nervous system development. Proc. Nat. Acad. Sci. 93: 9850-9857, 1996.
[0027495]18083.Jones, M. H.; Furlong, R. A.; Burkin, H.; Chalmers, I. J.; Brown, G. M.; Khwaja, O.; Affara, N. A.: The Drosophila developmental gene fat facets has a human homologue in Xp11.4 which escapes X-inactivation and has related sequences on Yq11.2. Hum. Molec. Genet. 5: 1695-1701, 1996.
[0027496]18084.Caldas, C.; Hahn, S. A.; da Costa, L. T.; Redston, M. S.; Schutte, M.; Seymour, A. B.; Weinstein, C. L.; Hruban, R. H.; Yeo, C. J.; Kern, S. E.: Frequent somatic mutations and homozygous deletions of the p16 (MTS1) gene in pancreatic adenocarcinoma. Nature Genet. 8: 27-32, 1994.
[0027497]18085.Liu, Q.; Yan, Y.-X.; McClure, M.; Nakagawa, H.; Fujimura, F.; Rustgi, A. K.: MTS-1 (CDKN2) tumor suppressor gene deletions are a frequent event in esophagus squamous cancer and pancreatic adenocarcinoma cell lines. Oncogene 10: 619-622, 1995.
[0027498]18086.Whelan, A. J.; Bartsch, D.; Goodfellow, P. J.: Brief report: a familial syndrome of pancreatic cancer and melanoma with a mutation in the CDKN2 tumor-suppressor gene. New Eng. J. Med. 333: 975-977, 1995.
[0027499]18087.Schutte, M.; da Costa, L. T.; Hahn, S. A.; Moskaluk, C.; Hoque, A. T. M. S.; Rozenblum, E.; Weinstein, C. L.; Bittner, M.; Meltzer, P. S.; Trent, J. M.; Yeo, C. J.; Hruban, R. H.; Kern, S. E.: Identification by representational difference analysis of a homozygous deletion in pancreatic carcinoma that lies with the BRCA2 region. Proc. Nat. Acad. Sci. 92: 5950-5954, 1995.
[0027500]18088.Stoffers, D. A.; Zinkin, N. T.; Stanojevic, V.; Clarke, W. L.; Habener, J. F.: Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence. Nature Genet. 15: 106-110, 1997.
[0027501]18089.Tacconi, P.; Ferrigno, P.; Cocco, L.; Cannas, A.; Tamburini, G.; Bergonzi, P.; Giagheddu, M.: Sclerosteosis: report of a case in a black African man. Clin. Genet. 53: 497-501, 1998.
[0027502]18090.Tanzi, R. E.; Petrukhin, K.; Chernov, I.; Pellequer, J. L.; Wasco, W.; Ross, B.; Romano, D. M.; Parano, E.; Pavone, L.; Brzustowicz, L. M.; Devoto, M.; Peppercorn, J.; Bush, A. I.; Sternlieb, I.; Pirastu, M.; Gusella, J. F.; Evgrafov, O.; Penchaszadeh, G. K.; Honig, B.; Edelman, I. S.; Soares, M. B.; Scheinberg, I. H.; Gilliam, T. C.: The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nature Genet. 5: 344-350, 1993.
[0027503]18091.Terada, K.; Nakako, T.; Yang, X.-L.; Iida, M.; Aiba, N.; Minamiya, Y.; Nakai, M.; Sakaki, T.; Miura, N.; Sugiyama, T.: Restoration of holoceruloplasmin synthesis in LEC rat after infusion of recombinant adenovirus bearing WND cDNA. J. Biol. Chem. 273: 1815-1820, 1998.
[0027504]18092.Thomas, G. R.; Forbes, J. R.; Roberts, E. A.; Walshe, J. M.; Cox, D. W.: The Wilson disease gene: spectrum of mutations and their consequences. Nature Genet. 9: 210-217, 1995. Note: Correction. Nature Genet. 9: 451 only, 1995.
[0027505]18093.Thomas, G. R.; Jensson, O.; Gudmundsson, G.; Thorsteinsson, L.; Cox, D. W.: Wilson disease in Iceland: a clinical and genetic study. Am. J. Hum. Genet. 56: 1140-1146, 1995.
[0027506]18094.Thomas, G. R.; Roberts, E. A.; Walshe, J. M.; Cox, D. W.: Haplotypes and mutations in Wilson disease. Am. J. Hum. Genet. 56: 1315-1319, 1995.
[0027507]18095.Beutler, E.; Kuhl, W.; Comings, D.: Hexosaminidase isozyme in type O Gm2 gangliosidosis (Sandhoff-Jatzkewitz disease). Am. J. Hum. Genet. 27: 628-638, 1975.
[0027508]18096.Boustany, R.-M. N.; Tanaka, A.; Nishimoto, J.; Suzuki, K.: Genetic cause of a juvenile form of Tay-Sachs disease in a Lebanese child. Ann. Neurol. 29: 104-107, 1991.
[0027509]18097.Brown, C. A.; Mahuran, D. J.: Beta-hexosaminidase isozymes from cells cotransfected with alpha and beta cDNA constructs: analysis of the alpha-subunit missense mutation associated with the adult form of Tay-Sachs disease. Am. J. Hum. Genet. 5: 497-508, 1993.
[0027510]18098.Chern, C. J.; Beutler, E.; Kuhl, W.; Gilbert, F.; Mellman, W. J.; Croce, C. M.: Characterization of heteropolymeric hexosaminidase A in human x mouse hybrid cells. Proc. Nat. Acad. Sci. 73: 3637-3640, 1976.
[0027511]18099.Chern, C. J.; Kennett, R.; Engel, E.; Mellman, W. J.; Croce, C. M.: Assignment of the structural genes for the alpha subunit of hexosaminidase A, mannosephosphate isomerase and pyruvate kinase to the region of 22-qter of human chromosome 15. Somat. Cell Genet. 3: 553-560, 1977.
[0027512]18100.Coulter-Mackie, M. B.: Molecular characterization of both alleles in an unusual Tay-Sachs disease B1 variant. (Letter) Am. J. Hum. Genet. 54: 1126-1127, 1994.
[0027513]18101.De Braekeleer, M.; Hechtman, P.; Andermann, E.; Kaplan, F.: The French Canadian Tay-Sachs disease deletion mutation: identification of probable founders. Hum. Genet. 89: 83-87, 1992.
[0027514]18102.De Gasperi, R.; Gama Sosa, M. A.; Battistini, S.; Yeretsian, J.; Raghavan, S.; Zelnik, N.; Leshinsky, E.; Kolodny, E. H.: Late-onset G(M2)-gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (tyr180-to-his) in the Hex A alpha-chain gene. Neurology 47: 547-552, 1996.
[0027515]18103.dos Santos, M. R.; Tanaka, A.; sa Miranda, M. C.; Ribeiro, M. G.; Maia, M.; Suzuki, K.: G(M2)-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene mutations in 11 patients from a defined region in Portugal. Am. J. Hum. Genet. 49: 886-890, 1991.
[0027516]18104.Drucker, L.; Navon, R.: Tay-Sachs disease in an Israeli Arab family: trp26-to-stop in the alpha-subunit of hexosaminidase A. Hum. Mutat. 2: 415-417, 1993.
[0027517]18105.Drucker, L.; Proia, R. L.; Navon, R.: Identification and rapid detection of three Tay-Sachs mutations in the Moroccan Jewish population. Am. J. Hum. Genet. 51: 371-377, 1992.
[0027518]18106.Fernandes, M.; Kaplan, F.; Natowicz, M.; Prence, E.; Kolodny, E.; Kaback, M.; Hechtman, P.: A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation. Hum. Molec. Genet. 1: 759-761, 1992.
[0027519]18107.Fernandes, M. J. G.; Hechtman, P.; Boulay, B.; Kaplan, F.: A chronic GM(2) gangliosidosis variant with a HEXA splicing defect: quantitation of HEXA mRNAs in normal and mutant fibroblasts. Europ. J. Hum. Genet. 5: 129-136, 1997.
[0027520]18108.Formiga, L. de F.; Poenaru, L.; Couronne, F.; Flori, E.; Eibel, J. L.; Deminatti, M. M.; Savary, J. B.; Lai, J. L.; Gilgenkrantz, S.; Pierson, M.: Interstitial deletion of chromosome 15: two cases. Hum. Genet. 80: 401-404, 1988.
[0027521]18109.Goebel, H. H.; Stolte, G.; Kustermann-Kuhn, B.; Harzer, K.: B(1) variant of G(M2) gangliosidosis in a 12-year-old patient. Pediat. Res. 25: 89-93, 1989.
[0027522]18110.Gordon, B. A.; Gordon, K. E.; Hinton, G. G.; Cadera, W.; Feleki, V.; Bayleran, J.; Hechtman, P.: Tay Sachs disease: B1 variant. Pediat. Neurol. 4: 54-57, 1988.
[0027523]18111.Greenberg, D. A.; Kaback, M. M.: Estimation of the frequency of hexosaminidase A variant alleles in the American Jewish population. Am. J. Hum. Genet. 34: 444-451, 1982.
[0027524]18112.Natt, E.; Westphal, E.-M.; Toth-Fejel, S. E.; Magenis, R. E.; Buist, N. R. M.; Rettenmeier, R.; Scherer, G.: Inherited and de novo deletion of the tyrosine aminotransferase gene locus at 16q22.1-q22.3 in a patient with tyrosinemia type II. Hum. Genet. 77: 352-358, 1987.
[0027525]18113.Pelet, B.; Antener, I.; Faggioni, R.; Spahr, A.; Gautier, E.: Tyrosinemia without liver or renal damage with plantar and palmar keratosis and keratitis (hypertyrosinemia type II). Helv. Paediat. Acta 34: 177-183, 1979.
[0027526]18114.Rehak, A.; Selim, M. M.; Yadav, G.: Richner-Hanhart syndrome (tyrosinaemia-II) (report of four cases without ocular involvement). Brit. J. Derm. 104: 469-475, 1981.
[0027527]18115.Rettenmeier, R.; Natt, E.; Zentgraf, H.; Scherer, G.: Isolation and characterization of the human tyrosine aminotransferase gene. Nucleic Acids Res. 18: 3853-3861, 1990.
[0027528]18116.Richner, H.: Hornhautaffektion bei Keratoma palmare et plantare hereditarium. Klin. Mbl. Augenheilk. 100: 580-588, 1938.
[0027529]18117.Schmid, W.; Muller, G.; Schutz, G.; Gluecksohn-Waelsch, S.: Deletions near the albino locus on chromosome 7 of the mouse affect the level of tyrosine aminotransferase mRNA. Proc. Nat. Acad. Sci. 82: 2866-2869, 1985.
[0027530]18118.Tallab, T.M.: Richner-Hanhart syndrome: importance of early diagnosis and early intervention. J. Am. Acad. Dermatol. 35: 857-859, 1996.
[0027531]18119.Ventura, G.; Biasini, G.; Petrozzi, M.: Cheratomia palmoplantare dissipatum associato a lesioni corneali in due fratelli. Boll. Oculist. 44: 497-510, 1965.
[0027532]18120.Waardenburg, P. J.; Franceschetti, A.; Klein, D.: Genetics and Ophthalmology. Springfield, Ill.: Charles C Thomas (pub.) 1: 1961. Pp. 515-517.
[0027533]18121.Westphal, E.-M.; Natt, E.; Grimm, T.; Odievre, M.; Scherer, G. : The human tyrosine aminotransferase gene: characterization of restriction fragment length polymorphisms and haplotype analysis in a family with tyrosinemia type II. Hum. Genet. 79: 260-264, 1988.
[0027534]18122.Perheentupa, J.: Autoimmune polyendocrinopathy-candidosis-ectodermal dystrophy (APECED).In: Eriksson, A. W.; Forsius, H. R.; Nevanlinna, H. R.; Workman, P. L.; Norio, R. K.: Population Structure and Genetic Disorders. New York: Academic Press (pub.) 1980. Pp. 583-587.
[0027535]18123.Prader, A.: Personal Communication. Zurich, Switzerland 1972.
[0027536]18124.Ramsay, C.; Winqvist, O.; Puhakka, L.; Halonen, M.; Moro, A.; Kampe, O.; Eskelin, P.; Pelto-Huikko, M.; Peltonen, L.: Aire deficient mice develop multiple features of APECED phenotype and show altered immune response. Hum. Molec. Genet. 11: 397-409, 2002.
[0027537]18125.Rinderle, C.; Christensen, H.-M.; Schweiger, S.; Lehrach, H.; Yaspo, M.-L.: AIRE encodes a nuclear protein co-localizing with cytoskeletal filaments: altered sub-cellular distribution of mutants lacking PHD zinc fingers. Hum. Molec. Genet. 8: 277-290, 1999.
[0027538]18126.Rosatelli, M. C.; Meloni, A.; Meloni, A.; Devoto, M.; Cao, A.; Scott, H. S.; Peterson, P.; Heino, M.; Krohn, K. J.; Nagamine, K.; Kudoh, J.; Shimizu, N.; Antonarakis, S. E.: A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients. Hum. Genet. 103: 428-434, 1998.
[0027539]18127.Saenger, P.: Primary hypoaldosteronism due to zona glomerulosa defect. (Letter) New Eng. J. Med. 310: 1394 only, 1984.
[0027540]18128.Saenger, P.; Levine, L. S.; Irvine, W. J.; Gottesdiener, K.; Rauh, W.; Sonino, N.; Chow, D.; New, M. I.: Progressive adrenal failure in polyglandular autoimmune disease. J. Clin. Endocr. Metab. 54: 863-868, 1982.
[0027541]18129.Scott, H. S.; Heino, M.; Peterson, P.; Mittaz, L.; Lalioti, M. D.; Betterle, C.; Cohen, A.; Seri, M.; Lerone, M.; Romeo, G.; Collin, P.; Salo, M.; and 9 others: Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins. Molec. Endocr. 12: 1112-1119, 1998.
[0027542]18130.Shapiro, M. S.; Zamir, R.; Weiss, E.; Radnay, J.; Shenkman, L. : The polyglandular deficiency syndrome: a new variant in Persian Jews. J. Endocr. Invest. 10: 1-7, 1987.
[0027543]18131.Spinner, M. W.; Blizzard, R. M.; Childs, B.: Clinical and genetical heterogeneity in idiopathic Addison's disease and hypoparathyroidism. J. Clin. Endocr. 28: 795-804, 1968.
[0027544]18132.Sweetnam, W. P.: Juvenile familial endocrinopathy. Lancet I: 463-465, 1966.
[0027545]18133.Wang, C.-Y.; Davoodi-Semiromi, A.; Huang, W.; Connor, E.; Shi, J.-D.; She, J.-X.: Characterization of mutations in patients with autoimmune polyglandular syndrome type 1 (APS1). Hum. Genet. 103: 681-685, 1998.
[0027546]18134.Whitaker, J. A.; Landing, B. H.; Esselborn, V. M.; Williams, R. R.: Syndrome of familial juvenile hypoadrenocorticism, hypoparathyroidism and superficial moniliasis. J. Clin. Endocr. 16: 1374-1387, 1956.
[0027547]18135.Wirfalt, A.: Genetic heterogeneity in autoimmune polyglandular failure. Acta Med. Scand. 210: 7-13, 1981.
[0027548]18136.Zlotogora, J.; Shapiro, M. S.: Polyglandular autoimmune syndrome type I among Iranian Jews. J. Med. Genet. 29: 824-826, 1992.
[0027549]18137.Hediger, M. A.: New view at C. Nature Med. 8: 445-446, 2002.
[0027550]18138.Sotiriou, S.; Gispert, S.; Cheng, J.; Wang, Y.; Chen, A.; Hoogstraten-Miller, S.; Miller, G. F.; Kwon, O.; Levine, M.; Guttentag, S. H.; Nussbaum, R. L.: Ascorbic-acid transporter Slc23a1 is essential for vitamin C transport into the brain and for perinatal survival. Nature Med. 8: 514-517, 2002.
[0027551]18139.Chuang, D. T.; Fisher, C. W.; Lau, K. S.; Griffin, T. A.; Wynn, R. M.; Cox, R. P.: Maple syrup urine disease: domain structure, mutations and exon skipping in the dihydrolipoyl transacylase (E2) component of the branched-chain alpha-keto acid dehydrogenase complex. Molec. Biol. Med. 8: 49-63, 1991.
[0027552]18140.Chuang, J. L.; Cox, R. P.; Chuang, D. T.: E2 transacylase-deficient (type II) maple syrup urine disease: aberrant splicing of E2 mRNA caused by internal intronic deletions and association with thiamine-responsive phenotype. J. Clin. Invest. 100: 736-744, 1997.
[0027553]18141.Fisher, C. W.; Fisher, C. R.; Chuang, J. L.; Lau, K. S.; Chuang, D. T.; Cox, R. P.: Occurrence of a 2-bp (AT) deletion allele and nonsense (G-to-T) mutant allele at the E2 (DBT) locus of six patients with maple syrup urine disease: multiple-exon skipping as a secondary effect of the mutations. Am. J. Hum. Genet. 52: 414-424, 1993.
[0027554]18142.Fisher, C. W.; Lau, K. S.; Fisher, C. R.; Wynn, R. M.; Cox, R. P.; Chuang, D. T.: A 17-bp insertion and a phe215-to-cys missense mutation in the dihydrolipoyl transacylase (E2) mRNA from a thiamine-responsive maple syrup urine disease patient WG-34. Biochem. Biophys. Res. Commun. 174: 804-809, 1991.
[0027555]18143.Herring, W. J.; Litwer, S.; Weber, J. L.; Danner, D. J.: Molecular genetic basis of maple syrup urine disease in a family with two defective alleles for branched chain acyltransferase and localization of the gene to human chromosome 1. Am. J. Hum. Genet. 48: 342-350, 1991.
[0027556]18144.Hummel, K. B.; Litwer, S.; Bradford, A. P.; Aitken, A.; Danner, D. J.; Yeaman, S. J.: Nucleotide sequence of a cDNA for branched chain acyltransferase with analysis of the deduced protein structure. J. Biol. Chem. 263: 6165-6168, 1988.
[0027557]18145.Indo, Y.; Akaboshi, I.; Nobukuni, Y.; Endo, F.; Matsuda, I.: Maple syrup urine disease: a possible biochemical basis for the clinical heterogeneity. Hum. Genet. 80: 6-10, 1988.
[0027558]18146.Lau, K. S.; Eddy, R. L.; Shows, T. B.; Fisher, C. W.; Chuang, D. T.; Cox, R. P.: Localization of the dihydrolipoamide branched-chain transacylase gene (DBT) of the human branchedchain keto acid dehydrogenase complex to chromosome 1. Cytogenet. Cell Genet. 56: 33-35, 1991.
[0027559]18147.Lau, K. S.; Griffin, T. A.; Hu, C.-W. C.; Chuang, D. T.: Conservation of primary structure in the lipoyl-bearing and dihydrolipoyl dehydrogenase binding domains of mammalian branched-chain alpha-keto acid dehydrogenase complex: molecular cloning of human and bovine transacylase (E2) cDNAs. Biochemistry 27: 1972-1981, 1988.
[0027560]18148.Lau, K. S.; Herring, W. J.; Chuang, J. L.; McKean, M.; Danner, D. J.; Cox, R. P.; Chuang, D. T.: Structure of the gene encoding dihydrolipoyl transacylase (E2) component of human branched chain alpha-keto acid dehydrogenase and characterization of an E2 pseudogene. J. Biol. Chem. 267: 24090-24096, 1992.
[0027561]18149.Lebo, R. V.; Shapiro, L. R.; Fenerci, E. Y.; Hoover, J. M.; Chuang, J. L.; Chuang, D. T.; Kronn, D. F.: Rare etiology of autosomal recessive disease in a child with noncarrier parents. Am. J. Hum. Genet. 67: 750-754, 2000.
[0027562]18150.Litwer, S.; Danner, D. J.: Identification of a cDNA clone in lambda-gt11 for the transacylase component of branched chain ketoacid dehydrogenase. Biochem. Biophys. Res. Commun. 131: 961-967, 1985.
[0027563]18151.Litwer, S.; Danner, D. J.: Mitochondrial import and processing of an in vitro synthesized human prebranched chain acyltransferase fragment. Am. J. Hum. Genet. 43: 764-769, 1988.
[0027564]18152.Mitsubuchi, H.; Nobukuni, Y.; Akaboshi, I.; Indo, Y.; Endo, F.; Matsuda, I.: Maple syrup urine disease caused by a partial deletion in the inner E2 core domain of the branched chain alphaketo acid dehydrogenase complex due to aberrant splicing: a single base deletion at a 5-prime-splice donor site of an intron of the E2 gene disrupts the consensus sequence in this region. J. Clin. Invest. 87: 1207-1211, 1991.
[0027565]18153.Tsuruta, M.; Mitsubuchi, H.; Mardy, S.; Miura, Y.; Hayashida, Y.; Kinugasa, A.; Ishitsu, T.; Matsuda, I.; Indo, Y.: Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex. J. Hum. Genet. 43: 91-100, 1998.
[0027566]18154.Zneimer, S. M.; Lau, K. S.; Eddy, R. L.; Shows, T. B.; Chuang, J. L.; Chuang, D. T.; Cox, R. P.: Regional assignment of two genes of the human branched-chain alpha-keto acid dehydrogenase complex: the E1-beta gene (BCKDHB) to chromosome 6p21-22 and the E2 gene (DBT) to chromosome 1p31. Genomics 10: 740-747, 1991.
[0027567]18155.Gahl, W.; Finkelstein, J.; Martin, J.; Mullen, K.; Hoofnagle, J.; Backlund, P.; Bernar, J.; Bernardini, I.: Hepatic methionine adenosyltransferase deficiency in a 31-year-old man. (Abstract) Am. J. Hum. Genet. 37: A8 only, 1985.
[0027568]18156.Gahl, W. A.; Bernardini, I.; Finkelstein, J. D.; Tangerman, A.; Martin, J. J.; Blom, H. J.; Mullen, K. D.; Mudd, S. H.: Transsulfuration in an adult with hepatic methionine adenosyltransferase deficiency. J. Clin. Invest. 81: 390-397, 1988.
[0027569]18157.Gahl, W. A.; Finkelstein, J. D.; Mullen, K. D.; Bernardini, I.; Martin, J. J.; Backlund, P.; Ishak, K. G.; Hoofnagle, J. H.; Mudd, S. H.: Hepatic methionine adenosyltransferase deficiency in a 31-year-old man. Am. J. Hum. Genet. 40: 39-49, 1987.
[0027570]18158.Gaull, G. E.; Bender, A. N.; Vulovic, D.; Tallan, H. H.; Schaffner, F.: Methioninemia and myopathy: a new disorder. Ann. Neurol. 9: 423-432, 1981.
[0027571]18159.Gaull, G. E.; Tallan, H. H.: Methionine adenosyltransferase deficiency: new enzymatic defect associated with hypermethioninemia. Science 186: 59-60, 1974.
[0027572]18160.Gaull, G. E.; Tallan, H. H.; Lonsdale, D.; Przyrembel, H.; Schaffner, F.; von Bassewitz, D. B.: Hypermethioninemia associated with methionine adenosyltransferase deficiency: clinical, morphologic, and biochemical observations in four patients. J. Pediat. 98: 734-741, 1981.
[0027573]18161.Gout, J.-P.; Serre, J.-C.; Dieterlen, M.; Antener, I.; Frappat, P.; Bost, M.; Beaudoing, A.: Une nouvelle cause d'hypermethioninemie de l'enfant: le deficit en S-adenosyl-methionine-synthetase. Arch. Franc. Pediat. 34: 416-423, 1977.
[0027574]18162.Hazelwood, S.; Bernardini, I.; Shotelersuk, V.; Tangerman, A.; Guo, J.; Mudd, H.; Gahl, W. A.: Normal brain myelination in a patient homozygous for a mutation that encodes a severely truncated methionine adenosyltransferase I/III. Am. J. Med. Genet. 75: 395-400, 1998.
[0027575]18163.Horikawa, S.; Tsukada, K.: Molecular cloning and nucleotide sequence of cDNA encoding the human liver S-adenosylmethionine synthetase. Biochem. Int. 25: 81-90, 1991.
[0027576]18164.Hug, G.; Cussen, L. J.; Schubert, W. K.; Chuck, G.: 'Fingerprints' in the liver: loss of methionine-activating enzyme. J. Clin. Invest. 47: 49A-50A, 1968.
[0027577]18165.Meny, R. G.; Gutberlet, R. L.; Ozand, P.; Morris, C.; Kim, C. H.: Hypermethioninemia in an infant. Am. J. Dis. Child. 132: 261-262, 1978.
[0027578]18166.Mudd, S. H.; Levy, H. L.; Tangerman, A.; Boujet, C.; Buist, N.; Davidson-Mundt, A.; Hudgins, L.; Oyanagi, K.; Nagao, M.; Wilson, W. G.: Isolated persistent hypermethioninemia. Am. J. Hum. Genet. 57: 882-892, 1995.
[0027579]18167.Natori, Y.: Studies on ethionine. VI. Sex-dependent behavior of methionine and ethionine in rats. J. Biol. Chem. 238: 2075-2080, 1963.
[0027580]18168.Sakata, S. F.; Shelly, L. L.; Ruppert, S.; Schutz, G.; Chou, J. Y.: Cloning and expression of murine S-adenosylmethionine synthetase. J. Biol. Chem. 268: 13978-13986, 1993.
[0027581]18169.Surtees, R.; Leonard, J.; Austin, S.: Association of demyelination with deficiency of cerebrospinal-fluid S-adenosylmethionine in inborn errors of methyl-transfer pathway. Lancet 338: 1550-1554, 1991.
[0027582]18170.Ubagai, T.; Lei, K.-J.; Huang, S.; Mudd, S. H.; Levy, H. L.; Chou, J. Y.: Molecular mechanisms of an inborn error of methionine pathway: methionine adenosyltransferase deficiency. J. Clin. Invest. 96: 1943-1947, 1995.
[0027583]18171.Cahane, M.; Treister, G.; Abraham, F. A.; Melamed, S.: Glaucoma in siblings with Morquio syndrome. Brit. J. Ophthal. 74: 382-383, 1990.
[0027584]18172.DiFerrante, N. M.; Ginsburg, L. C.; Donnelly, P. V.; DiFerrante, D. T.; Caskey, C. T.: Deficiencies of glucosamine-6-sulfate or galactosamine-6-sulfate sulfatases are responsible for different mucopolysaccharidoses. Science 199: 79-81, 1978.
[0027585]18173.Fujimoto, A.; Horwitz, A. L.: Biochemical defect of non-keratan-sulfate-excreting Morquio syndrome. Am. J. Med. Genet. 15: 265-273, 1983.
[0027586]18174.Fukuda, S.; Tomatsu, S.; Masue, M.; Sukegawa, K.; Iwata, H.; Ogawa, T.; Nakashima, Y.; Hori, T.; Yamagishi, A.; Hanyu, Y.; Morooka, K.; Kiman, T.; Hashimoto, T.; Orii, T.: Mucopolysaccharidosis type IVA: N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases. J. Clin. Invest. 90: 1049-1053, 1992.
[0027587]18175.Fukuda, S.; Tomatsu, S. Masuno, M.; Ogawa, T.; Yamagishi, A.; Rezvi, G. M. M.; Sukegawa, K.; Shimozawa, N.; Suzuki, Y.; Kondo, N.; Imaizumi, K.; Kuroki, Y.; Okabe, T.; Orii, T.: Mucopolysaccharidosis IVA: submicroscopic deletion of 16q24.3 and a novel R386C mutation of Nacetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease. Hum. Mutat. 7: 123-134, 1996.
[0027588]18176.Gadbois, P.; Moreau, J.; Laberge, C.: La maladie de Morquio dans la province de Quebec. Un. Med. Canada 102: 602-607, 1973.
[0027589]18177.Gibson, G. J.; Saccone, G. T. P.; Brooks, D. A.; Clements, P. R.; Hopwood, J. J.: Human N-acetylgalactosamine-4-sulphate sulphatase: purification, monoclonal antibody production and native and subunit M(r) values. Biochem. J. 248: 755-764, 1987.
[0027590]18178.Glossl, J.; Kresse, H.; Mendla, K.; Cantz, M.; Rosenkranz, W. : Partial deficiency of glycoprotein neuraminidase in some patients with Morquio disease type A. Pediat. Res. 18: 302-305, 1984.
[0027591]18179.Glossl, J.; Lembeck, K.; Gamse, G.; Kresse, H.: Morquio's disease type A: absence of material cross reacting with antibodies against N-acetylgalactosamine-6-sulfate sulfatase. Hum. Genet. 54: 87-91, 1980.
[0027592]18180.Greenberg, A. D.: Atlantoaxial dislocations. Brain 91: 655-684, 1968.
[0027593]18181.Guiney, W. B., Jr.; Stevenson, R. E.: Morquio disease (MPS IV) with survival to age 67 years. Proc. Greenwood Genet. Center 1: 84-87, 1982.
[0027594]18182.Hecht, J. T.; Scott, C. I., Jr.; Smith, T. K.; Williams, J. C. : Mild manifestations of the Morquio syndrome. (Letter) Am. J. Med. Genet. 18: 369-371, 1984.
[0027595]18183.Holzgreve, W.; Grobe, H.; von Figura, K.; Kresse, H.; Beck, H.; Mattei, J. F.: Morquio syndrome: clinical findings in 11 patients with MPS IVA and 2 patients with MPS IVB. Hum. Genet. 57: 360-365, 1981.
[0027596]18184.Hori, T.; Tomatsu, S.; Nakashima, Y.; Uchiyama, A.; Fukuda, S.; Sukegawa, K.; Shimozawa, N.; Suzuki, Y.; Kondo, N.; Horiuchi, T.; Ogura, S.; Orii, T.: Mucopolysaccharidosis type IVA: common double deletion in the N-acetylgalactosamine-6-sulfatase gene (GALNS). Genomics 26: 535-542, 1995.
[0027597]18185.Hussels, I.: Morquio syndrome in a woman with two normal children.In: Bergsma, D.: Skeletal Dysplasias. Amsterdam: Excerpta Medica (pub.) 1974. Pp. 465-466.
[0027598]18186.Kato, Z.; Fukuda, S.; Tomatsu, S.; Vega, H.; Yasunaga, T.; Yamagishi, A.; Yamada, N.; Valencia, A.; Barrera, L. A.; Sukegawa, K.; Orii, T.; Kondo, N.: A novel common missense mutation G301C in the N-acetylgalactosamine-6-sulfate sulfatase gene in mucopolysaccharidosis IVA. Hum. Genet. 101: 97-101, 1997.
[0027599]18187.Langer, L. O., Jr.; Carey, L. S.: The roentgenographic features of the KS mucopolysaccharidosis of Morquio (Morquio-Brailsford's disease). Am. J. Roentgen. 97: 1-20, 1966.
[0027600]18188.Levin, L. S.; Jorgenson, R. J.; Salinas, C. F.: Oral findings in the Morquio syndrome (mucopolysaccharidosis IV). Oral Surg. Oral Med. Oral Path. 39: 390-395, 1975.
[0027601]18189.Linker, A.; Evans, L. R.; Langer, L. O., Jr.: Morquio's disease and mucopolysaccharide excretion. J. Pediat. 77: 1039-1047, 1970.
[0027602]18190.Maroteaux, P.; Lamy, M.: Opacites corneennes et troubles metaboliques dans la maladie de Morquio. Rev. Franc. Etud. Clin. Biol. 6: 481-483, 1961.
[0027603]18191.Masuno, M.; Tomatsu, S.; Nakashima, Y.; Hori, T.; Fukuda, S.; Masue, M.; Sukegawa, K.; Orii, T.: Mucopolysaccharidosis IV A: assignment of the human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene to chromosome 16q24. Genomics 16: 777-778, 1993.
[0027604]18192.Matalon, R.; Arbogast, B.; Dorfman, A.: Morquio's syndrome: a deficiency of chondroitin sulfate N-acetylhexosamine sulfate sulfatase. (Abstract) Pediat. Res. 8: 436, 1974.
[0027605]18193.McKusick, V. A.: Osler as a medical geneticist. Johns Hopkins Med. J. 139: 163-174, 1976.
[0027606]18194.McKusick, V. A.: Heritable Disorders of Connective Tissue. Non-keratan-sulfateexcreting Morquio syndrome. St. Louis: C. V. Mosby (pub.) 1972. Pp. 600-604. Note: Fig. 11-30...
[0027607]18195.Morquio, L.: Sur une forme de dystrophie osseuse familiale. Bull. Soc. Pediat. Paris 27: 145-152, 1929.
[0027608]18196.Morris, C. P.; Guo, X.-H.; Apostolou, S.; Hopwood, J. J.; Scott, H. S.: Morquio A syndrome: cloning, sequence, and structure of the human N-acetylgalactosamine 6-sulfatase (GALNS) gene. Genomics 22: 652-654, 1994.
[0027609]18197.Nakashima, Y.; Tomatsu, S.; Hori, T.; Fukuda, S.; Sukegawa, K.; Kondo, N.; Suzuki, Y.; Shimozawa, N.; Orii, T.: Mucopolysaccharidosis IV A: molecular cloning of the human Nacetylgalactosamine-6-sulfatase gene (GALNS) and analysis of the 5-prime-flanking region. Genomics 20: 99-104, 1994.
[0027610]18198.Nelson, J.; Broadhead, D.; Mossman, J.: Clinical findings in 12 patients with MPS IV A (Morquio's disease): further evidence for heterogeneity. Part I: clinical and biochemical findings. Clin. Genet. 33: 111-120, 1988.
[0027611]18199.Nelson, J.; Kinirons, M.: Clinical findings in 12 patients with MPS IV A (Morquio's disease): further evidence for heterogeneity. Part II: dental findings. Clin. Genet. 33: 121-125, 1988.
[0027612]18200.Nelson, J.; Thomas, P. S.: Clinical findings in 12 patients with MPS IV A (Morquio's disease): further evidence for heterogeneity. Part III: odontoid dysplasia. Clin. Genet. 33: 126-130, 1988.
[0027613]18201.Osler, W.: Sporadic cretinism in America. Am. J. Med. Sci. 114: 377-401, 1897.
[0027614]18202.Nauseef, W. M.; Brigham, S.; Cogley, M.: Hereditary myeloperoxidase deficiency due to a missense mutation of arginine 569 to tryptophan. J. Biol. Chem. 269: 1212-1216, 1994.
[0027615]18203.Bartholomew, L. G.; Baggenstoss, A. H.; Morlock, C. G.; Comfort, M. W.: Primary atrophy and lipomatosis of the pancreas. Gastroenterology 36: 563-572, 1959.
[0027616]18204.Bodian, M.; Sheldon, W.; Lightwood, R.: Congenital hypoplasia of the exocrine pancreas. Acta Paediat. 53: 282-293, 1964.
[0027617]18205.Cipolli, M.; D'Orazio, C.; Delmarco, A.; Marchesini, C.; Miano, A.; Mastella, G.: Shwachman's syndrome: pathomorphosis and long-term outcome. J. Pediat. Gastroent. Nutr. 29: 265-272, 1999.
[0027618]18206.Danks, D. M.; Haslam, R. H. A.; Mayne, V.; Kaufmann, H. J.; Holtzapple, P. G.: Metaphyseal chondrodysplasia, neutropenia, and pancreatic insufficiency presenting with respiratory distress in the neonatal period. Arch. Dis. Child. 51: 697-701, 1976.
[0027619]18207.Davie, A. M.: The 'singles' method for segregation analysis under incomplete ascertainment. Ann. Hum. Genet. 42: 507-512, 1979.
[0027620]18208.Dokal, I.; Rule, S.; Chen, F.; Potter, M.; Goldman, J.: Adult onset of acute myeloid leukaemia (M6) in patients with Shwachman-Diamond syndrome. Brit. J. Haemat. 99: 171-173, 1997.
[0027621]18209.Dror, Y.; Freedman, M. H.: Shwachman-Diamond syndrome. Brit. J. Haemat. 118: 701-713, 2002.
[0027622]18210.Dror, Y.; Freedman, M. H.: Shwachman-Diamond syndrome: an inherited preleukemic bone marrow failure disorder with aberrant hematopoietic progenitors and faulty marrow microenvironment. Blood 94: 3048-3054, 1999.
[0027623]18211.Dror, Y.; Freedman, M. H.: Shwachman-Diamond syndrome marrow cells show abnormally increased apoptosis mediated through the Fas pathway. Blood 97: 3011-3016, 2001.
[0027624]18212.Dror, Y.; Ginzberg, H.; Dalal, I.; Cherepanov, V.; Downey, G.; Durie, P.; Roifman, C. M.; Freedman, M. H.: Immune function in patients with Shwachman-Diamond syndrome. Brit. J. Haemat. 114: 712-717, 2001.
[0027625]18213.Fraccaro, M.; Scappaticci, S.; Arico, M.: Shwachman syndrome and chromosome breakage. (Letter) Hum. Genet. 79: 194, 1988.
[0027626]18214.Genieser, N. B.; Halac, E. R.; Greco, M. A.; Selvarani Richards, H. M.: Shwachman-Bodian syndrome. J. Comput. Assist. Tomogr. 6: 1191-1192, 1982.
[0027627]18215.Ginzberg, H.; Shin, J.; Ellis, L.; Goobie, S.; Morrison, J.; Corey, M.; Durie, P. R.; Rommens, J. M.: Segregation analysis in Shwachman-Diamond syndrome: evidence for recessive inheritance. Am. J. Hum. Genet. 66: 1413-1416, 2000.
[0027628]18216.Ginzberg, H.; Shin, J.; Ellis, L.; Morrison, J.; Ip, W.; Dror, Y.; Freedman, M.; Heitlinger, L. A.; Belt, M. A.; Corey, M.; Rommens, J. M.; Durie, P. R.: Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar. J. Pediat. 135: 81-88, 1999.
[0027629]18217.Goldstein, R.: Congenital lipomatosis of the pancreas. Malabsorption, dwarfism, leukopenia with relative granulocytopenia and thrombocytopenia. Clin. Pediat. 7: 419-422, 1968.
[0027630]18218.Goobie, S.; Morrison, J.; Ginzberg, H.; Ellis, L.; Corey, M.; Masuno, M.; Imaizumi, K.; Kuroki, Y.; Fujiwara, T. M.; Morgan, K.; Durie, P. R.; Rommens, J. M.: Exclusion of linkage of Shwachman-Diamond syndrome to chromosome regions 6q and 12q implicated by a de novo translocation. Am. J. Med. Genet. 85: 171-174, 1999.
[0027631]18219.Li, C. C.; Mantel, N.: A simple method of estimating the segregation ratio under complete ascertainment. Am. J. Hum. Genet. 20: 61-81, 1968.
[0027632]18220.Mack, D. R.; Forstner, G. G.; Wilschanski, M.; Freedman, M. H.; Durie, P. R.: Shwachman syndrome: exocrine pancreatic dysfunction and variable phenotypic expression. Gastroenterology 111: 1593-1602, 1996.
[0027633]18221.Masuno, M.; Imaizumi, K.; Nishimura, G.; Nakamura, M.; Saito, I.; Akagi, K.; Kuroki, Y.: Shwachman syndrome associated with de novo reciprocal translocation t(6;12)(q16.2;q21.2). J. Med. Genet. 32: 894-895, 1995.
[0027634]18222.McLennan, T. W.; Steinbach, H. L.: Shwachman's syndrome: the broad spectrum of bony abnormalities. Radiology 112: 167-173, 1974.
[0027635]18223.Goobie, S.; Popovic, M.; Morrison, J.; Ellis, L.; Ginzberg, H.; Boocock, G. R. B.; Ehtesham, N.; Betard, C.; Brewer, C. G.; Roslin, N. M.; Hudson, T. J.; Morgan, K.; Fujiwara, T. M.; Durie, P. R.; Rommens, J. M.: Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7. Am. J. Hum. Genet. 68: 1048-1054, 2001.
[0027636]18224.Nezelof, C.; Watchi, M.: L'hypoplasie congenitale lipomateuse du pancreas exocrine chez l'enfant (Deux observations et revue de la litterature). Arch. Franc. Pediat. 18: 1135-1172, 1961.
[0027637]18225.Pringle, E. M.; Young, W. F.; Haworth, E. M.: Syndrome of pancreatic insufficiency, blood dyscrasia and metaphyseal dysplasia. Proc. Roy. Soc. Med. 61: 776-777, 1968.
[0027638]18226.Rothbaum, R. J.; Williams, D. A.; Daugherty, C. C.: Unusual surface distribution of concanavalin A reflects a cytoskeletal defect in neutrophils in Shwachman's syndrome. Lancet II: 800-801, 1982.
[0027639]18227.Saint-Martin, J.; Fournet, J. P.; Charlas, J.; Schaison, G.; Nodot, A.; Meyer, B.; Vialatte, J.: Insuffisance pancreatique externe avec granulopenie chronique. Arch. Franc. Pediat. 26: 861-871, 1969.
[0027640]18228.Saunders, E. F.; Gall, G.; Freedman, M. H.: Granulopoiesis in Shwachman's syndrome (pancreatic insufficiency and bone marrow dysfunction). Pediatrics 64: 515-519, 1979.
[0027641]18229.Cazeneuve, C.; Sarkisian, T.; Pecheux, C.; Dervichian, M.; Nedelec, B.; Reinert, P.; Ayvazyan, A.; Kouyoumdjian, J.-C.; Ajrapetyan, H.; Delpech, M.; Goossens, M.; Dode, C.; Grateau, G.; Amselem, S.: MEFV-gene analysis in Armenian patients with familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype--genetic and therapeutic implications. Am. J. Hum. Genet. 65: 88-97, 1999.
[0027642]18230.Centola, M.; Wood, G.; Frucht, D. M.; Galon, J.; Aringer, M.; Farrell, C.; Kingma, D. W.; Horwitz, M. E.; Mansfield, E.; Holland, S. M.; O'Shea, J. J.; Rosenberg, H. F.; Malech, H. L.; Kastner, D. L.: The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators. Blood 95: 3223-3231, 2000.
[0027643]18231.Carpenter, S.; Karpati, G.; Andermann, F.; Jakob, J. C.; Andermann, E.: The ultrastructural characteristics of the abnormal cytosomes in Batten-Kuf's disease. Brain 100: 137-156, 1977.
[0027644]18232.Klockars, T.; Savukoski, M.; Isosomppi, J.; Laan, M.; Jarvela, I.; Petrukhin, K.; Palotie, A.; Peltonen, L.: Efficient construction of a physical map by fiber-fish of the CLN5 region: refined assignment and long-range contig covering the critical region on 13q22. Genomics 35: 71-78, 1996.
[0027645]18233.Santavuori, P.; Rapola, J.; Nuutila, A.; Raininko, R.; Lappi, M.; Launes, J.; Herva, R.; Sainio, K.: The spectrum of Jansky-Bielschowsky disease. Neuropediatrics 22: 92-96, 1991.
[0027646]18234.Santavuori, P.; Rapola, J.; Sainio, K.; Raitta, C.: A variant of Jansky-Bielschowsky disease. Neuropediatrics 13: 135-141, 1982.
[0027647]18235.Savukoski, M.; Kestila, M.; Williams, R.; Jarvela, I.; Sharp, J.; Harris, J.; Santavuori, P.; Gardiner, M.; Peltonen, L.: Defined chromosomal assignment of CLN5 demonstrates that at least four loci are involved in the pathogenesis of human ceroid lipofuscinoses. Am. J. Hum. Genet. 55: 695-701, 1994.
[0027648]18236.Savukoski, M.; Klockars, T.; Holmberg, V.; Santavuori, P.; Lander, E. S.; Peltonen, L.: CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. Nature Genet. 19: 286-288, 1998.
[0027649]18237.Varilo, T.; Savukoski, M.; Norio, R.; Santavuori, P.; Peltonen, L.; Jarvela, I.: The age of human mutation: genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population. Am. J. Hum. Genet. 58: 506-512, 1996.
[0027650]18238.Williams, R.; Santavuori, P.; Peltonen, L.; Gardiner, R. M.; Jarvela, I.: A variant form of late infantile neuronal ceroid lipofuscinosis (CLN5) is not an allelic form of Batten (Spielmeyer-Vogt-Sjogren, CLN3) disease: exclusion of linkage to the CLN3 region of chromosome 16. Genomics 20: 289-290, 1994.
[0027651]18239.Busard, B. L. S. M.; Renier, W. O.; Gabreels, F. J. M.; Jaspar, H. H. J.; van Haelst, U. J. G.; Slooff, J. L.: Lafora's disease: comparison of inclusion bodies in skin and in brain. Arch. Neurol. 43: 296-299, 1986.
[0027652]18240.Busard, H. L. S. M.; Gabreels-Festen, A. A. W. M.; Renier, W. O.; Gabreels, F. J. M.; Stadhouders, A. M.: Axilla skin biopsy: a reliable test for the diagnosis of Lafora's disease. Ann. Neurol. 21: 599-601, 1987.
[0027653]18241.Fluharty, A. L.; Porter, M. T.; Hirsh, G. A.; Pevida, E.; Kihara, H.: Metachromasia in fibroblasts from a patient with Lafora's disease. (Letter) Lancet II: 109-110, 1970.
[0027654]18242.Ganesh, S.; Agarwala, K. L.; Ueda, K.; Akagi, T.; Shoda, K.; Usui, T.; Hashikawa, T.; Osada, H.; Delgado-Escueta, A. V.; Yamakawa, K. : Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes. Hum. Molec. Genet. 9: 2251-2261, 2000.
[0027655]18243.Gomez-Garre, P.; Sanz, Y.; Rodriguez de Cordoba, S.; Serratosa, J. M.: Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions. Europ. J. Hum. Genet. 8: 946-954, 2000.
[0027656]18244.Harriman, D. G. F.; Millar, J. H. D.: Progressive familial myoclonic epilepsy in 3 families: its clinical features and pathological basis. Brain 78: 325-349, 1955.
[0027657]18245.Janeway, R.; Ravens, J. R.; Pearce, L. A.; Odor, D. L.; Suzuki, K.: Progressive myoclonus epilepsy with Lafora inclusion bodies. I. Clinical, genetic, histopathologic and biochemical aspects. Arch. Neurol. 16: 565-582, 1967.
[0027658]18246.Lehesjoki, A.-E.; Koskiniemi, M.; Pandolfo, M.; Antonelli, A.; Kyllerman, M.; Wahlstrom, J.; Nergardh, A.; Burmeister, M.; Sistonen, P.; Norio, R.; de la Chapelle, A.: Linkage studies in progressive myoclonus epilepsy: Unverricht-Lundborg and Lafora's diseases. Neurology 42: 1545-1550, 1992.
[0027659]18247.Maddox, L. O.; Descartes, M.; Collins, J.; Keating, J.; Rosenfeld, S.; Palmer, C.; Carroll, A. J.; Kuzniecky, R.: Identification of a recombination event narrowing the Lafora disease gene region. J. Med. Genet. 34: 590-591, 1997.
[0027660]18248.Harding, B. N.; Leonard, J. V.; Erdohazi, M.: Ornithine carbamoyl transferase deficiency: a neuropathological study. Europ. J. Pediat. 141: 215-220, 1984.
[0027661]18249.Amadou, C.; Ribouchon, M. T.; Mattei, M. G.; Jenkins, N. A.; Gilbert, D. J.; Copeland, N. G.; Avoustin, P.; Pontarotti, P.: Localization of new genes and markers to the distal part of the human major histocompatibility complex (MHC) region and comparison with the mouse: new insights into the evolution of mammalian genomes. Genomics 26: 9-20, 1995.
[0027662]18250.Solinas-Toldo, S.; Lengauer, C.; Fries, R.: Comparative genome map of human and cattle. Genomics 27: 489-496, 1995.
[0027663]18251.Olives, B.; Martial, S.; Mattei, M.-G.; Matassi, G.; Rousselet, G.; Ripoche, P.; Cartron, J.-P.; Bailly, P.: Molecular characterization of a new urea transporter in the human kidney. FEBS Lett. 386: 156-160, 1996.
[0027664]18252.Ranade, K.; Wu, K.-W.; Hwu, C.-M.; Ting, C.-T.; Pei, D.; Pesich, R.; Hebert, J.; Chen, Y.-D. I.; Pratt, R.; Olshen, R.; Masaki, K.; Risch, N.; Cox, D. R.; Botstein, D.: Genetic variation in the human urea transporter-2 is associated with variation in blood pressure. Hum. Molec. Genet. 10: 2157-2164, 2001.
[0027665]18253.Galko, M. J.; Tessier-Lavigne, M.: Function of an axonal chemoattractant modulated by metalloprotease activity. Science 289: 1365-1367, 2000.
[0027666]18254.Stein, E.; Tessier-Lavigne, M.: Hierarchical organization of guidance receptors: silencing of netrin attraction by Slit through a Robo/DCC receptor complex. Science 291: 1928-1938, 2001.
[0027667]18255.Stein, E.; Zou, Y.; Poo, M.; Tessier-Lavigne, M.: Binding of DCC by netrin-1 to mediate axon guidance independent of adenosine A2B receptor activation. Science 291: 1976-1982, 2001.
[0027668]18256.Orr, H. T.; Zoghbi, H. Y.: SCA1 molecular genetics: a history of a 13 year collaboration against glutamines. Hum. Molec. Genet. 10: 2307-2311, 2001.
[0027669]18257.Lubahn, D. B.; Moyer, J. S.; Golding, T. S.; Couse, J. F.; Korach, K. S.; Smithies, O.: Alteration of reproductive function but not prenatal sexual development after insertional disruption of the mouse estrogen receptor gene. Proc. Nat. Acad. Sci. 90: 11162-11166, 1993.
[0027670]18258.Hanna, I. H.; Dawling, S.; Roodi, N.; Guengerich, F. P.; Parl, F. F.: Cytochrome P450 1B1 (CYP1B1) pharmacogenetics: association of polymorphisms with functional differences in estrogen hydroxylation activity. Cancer Res. 60: 3440-3444, 2000.
[0027671]18259.Dai, G.; Levy, O.; Carrasco, N.: Cloning and characterization of the thyroid iodide transporter. Nature 379: 458-460, 1996.
[0027672]18260.Costanzo, A.; Merlo, P.; Pediconi, N.; Fulco, M.; Sartorelli, V.; Cole, P. A.; Fontemaggi, G.; Fanciulli, M.; Schiltz, L.; Blandino, G.; Balsano, C.; Levrero, M.: DNA damagedependent acetylation of p73 dictates the selective activation of apoptotic target genes. Molec. Cell 9: 175-186, 2002.
[0027673]18261.Flores, E. R.; Tsai, K. Y.; Crowley, D.; Sengupta, S.; Yang, A.; McKeon, F.; Jacks, T.: p63 and p73 are required for p53-dependent apoptosis in response to DNA damage. Nature 416: 560-564, 2002.
[0027674]18262.Jost, C. A.; Marin, M. C.; Kaelin, W. G., Jr.: p73 is a human p53-related protein that can induce apoptosis. Nature 389: 191-194, 1997.
[0027675]18263.Kaghad, M.; Bonnet, H.; Yang, A.; Creancier, L.; Biscan, J.-C.; Valent, A.; Minty, A.; Chalon, P.; Lelias, J.-M.; Dumont, X.; Ferrara, P.; McKeon, F.; Caput, D.: Monoallelically expressed gene related to p53 at 1p36, a region frequently deleted in neuroblastoma and other human cancers. Cell 90: 809-819, 1997.
[0027676]18264.Marin, M. C.; Jost, C. A.; Brooks, L. A.; Irwin, M. S.; O'Nions, J.; Tidy, J. A.; James, N.; McGregor, J. M.; Harwood, C. A.; Yulug, I. G.; Vousden, K. H.; Allday, M. J.; Gusterson, B.; Ikawa, S.; Hinds, P. W.; Crook, T.; Kaelin, W. G., Jr. A common polymorphism acts as an intragenic modifier of mutant p53 behaviour. Nature Genet. 25: 47-54, 2000.
[0027677]18265.Morrison, R. S.; Kinoshita, Y.: p73--guilt by association? Science 289: 257-258, 2000.
[0027678]18266.Pozniak, C. D.; Radinovic, S.; Yang, A.; McKeon, F.; Kaplan, D. R.; Miller, F. D.: An anti-apoptotic role for the p53 family member, p73, during developmental neuron death. Science 289: 304-306, 2000.
[0027679]18267.Yang, A.; Walker, N.; Bronson, R.; Kaghad, M.; Oosterwegel, M.; Bonnin, J.; Vagner, C.; Bonnet, H.; Dikkes, P.; Sharpe, A.; McKeon, F.; Caput, D.: p73-deficient mice have neurological, pheromonal and inflammatory defects but lack spontaneous tumours. Nature 404: 99-103, 2000.
[0027680]18268.Moore, J. T.; McKee, D. D.; Slentz-Kesler, K.; Moore, L. B.; Jones, S. A.; Horne, E. L.; Su, J.-L.; Kliewer, S. A.; Lehmann, J. M.; Willson, T. M.: Cloning and characterization of human estrogen receptor beta isoforms. Biochem. Biophys. Res. Commun. 247: 75-78, 1998.
[0027681]18269.Mosselman, S.; Polman, J.; Dijkema, R.: ER-beta: identification and characterization of a novel human estrogen receptor. FEBS Lett. 392: 49-53, 1996.
[0027682]18270.Ogawa, S.; Emi, M.; Shiraki, M.; Hosoi, T.; Ouchi, Y.; Inoue, S.: Association of estrogen receptor beta (ESR2) gene polymorphism with blood pressure. J. Hum. Genet. 45: 327-330, 2000.
[0027683]18271.Ogawa, S.; Inoue, S.; Watanabe, T.; Orimo, A.; Hosoi, T.; Ouchi, Y.; Muramatsu, M.: Molecular cloning and characterization of human estrogen receptor beta-cx: a potential inhibitor of estrogen action in human. Nucleic Acids Res. 26: 3505-3512, 1998.
[0027684]18272.Osterlund, M. K.; Gustafsson, J. A.; Keller, E.; Hurd, Y. L.: Estrogen receptor beta (ER-beta) messenger ribonucleic acid (mRNA) expression within the human forebrain: distinct distribution pattern to ER-alpha mRNA. J. Clin. Endocr. Metab. 85: 3840-3846, 2000.
[0027685]18273.Pasquali, D.; Rossi, V.; Esposito, D.; Abbondanza, C.; Puca, G. A.; Bellastella, A.; Sinisi, A. A.: Loss of estrogen receptor beta expression in malignant human prostate cells in primary cultures and in prostate cancer tissues. J. Clin. Endocr. Metab. 86: 2051-2055, 2001.
[0027686]18274.Petersen, D. N.; Tkalcevic, G. T.; Koza-Taylor, P. H.; Turi, T. G.; Brown, T. A.: Identification of estrogen receptor beta-2, a functional variant of estrogen receptor beta expressed in normal rat tissues. Endocrinology 139: 1082-1092, 1998.
[0027687]18275.Rissman, E. F.; Heck, A. L.; Leonard, J. E.; Shupnik, M. A.; Gustafsson, J.-A.: Disruption of estrogen receptor beta gene impairs spatial learning in female mice. Proc. Nat. Acad. Sci. 99: 3996-4001, 2002.
[0027688]18276.Rosenkranz, K.; Hinney, A.; Ziegler, A.; Hermann, H.; Fichter, M.; Mayer, H.; Siegfried, W.; Young, J. K.; Remschmidt, H.; Hebebrand, J.: Systematic mutation screening of the estrogen receptor beta gene in probands of different weight extremes: identification of several genetic variants. J. Clin. Endocr. Metab. 83: 4524-4527, 1998.
[0027689]18277.Speirs, V.; Adams, I. P.; Walton, D. S.; Atkin, S. L.: Identification of wild-type and exon 5 deletion variants of estrogen receptor beta in normal human mammary gland. J. Clin. Endocr. Metab. 85: 1601-1605, 2000.
[0027690]18278.Tsukamoto, K.; Inoue, S.; Hosoi, T.; Orimo, H.; Emi, M.: Isolation and radiation hybrid mapping of dinucleotide repeat polymorphism at the human estrogen receptor beta locus. J. Hum. Genet. 43: 73-74, 1998.
[0027691]18279.Weihua, Z.; Saji, S.; Makinen, S.; Cheng, G.; Jensen, E. V.; Warner, M.; Gustafsson, J.-A.: Estrogen receptor (ER)-beta, a modulator of ER-alpha in the uterus. Proc. Nat. Acad. Sci. 97: 5936-5941, 2000.
[0027692]18280.Westberg, L.; Baghaei, F.; Rosmond, R.; Hellstrand, M.; Landen, M.; Jansson, M.; Holm, G.; Bjorntorp, P.; Eriksson, E.: Polymorphisms of the androgen receptor gene and the estrogen receptor gene are associated with androgen levels in women. J. Clin. Endocr. Metab. 86: 2562-2568, 2001.
[0027693]18281.Zhu, Y.; Bian, Z.; Lu, P.; Karas, R. H.; Bao, L.; Cox, D.; Hodgin, J.; Shaul, P. W.; Thoren, P.; Smithies, O.; Gustafsson, J.-A.; Mendelsohn, M. E.: Abnormal vascular function and hypertension in mice deficient in estrogen receptor beta. Science 295: 505-508, 2002.
[0027694]18282.DesGroseillers, L.; Lemieux, N.: Localization of a human double-stranded RNAbinding protein gene (STAU) to band 20q13.1 by fluorescence in situ hybridization. Genomics 36: 527-529, 1996.
[0027695]18283.Marion, R. M.; Fortes, P.; Beloso, A.; Dotti, C.; Ortin, J.: A human sequence homologue of staufen is an RNA-binding protein that is associated with polysomes and localizes to the rough endoplasmic reticulum. Molec. Cell. Biol. 19: 2212-2219, 1999.
[0027696]18284.Wickham, L.; Duchaine, T.; Luo, M.; Nabi, I. R.; DesGroseillers, L.: Mammalian staufen is a double-stranded-RNA- and tubulin-binding protein which localizes to the rough endoplasmic reticulum. Molec. Cell. Biol. 19: 2220-2230, 1999.
[0027697]18285.Lee, J. E.; Hollenberg, S. M.; Snider, L.; Turner, D. L.; Lipnick, N.; Weintraub, H.: Conversion of Xenopus ectoderm into neurons by NeuroD, a basic helix-loop-helix protein. Science 268: 836-844, 1995.
[0027698]18286.Plasilova, M.; Stoilov, I.; Sarfarazi, M.; Kadasi, L.; Ferakova, E.; Ferak, V.: Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma. J. Med. Genet. 36: 290-294, 1999.
[0027699]18287.Schwartzman, M. L.; Balazy, M.; Masferrer, J.; Abraham, N. G.; McGiff, J. C.; Murphy, R. C.: 12(R)-hydroxyicosatetraenoic acid: a cytochrome P450-dependent arachidonate metabolite that inhibits Na+,K+-ATPase in the cornea. Proc. Nat. Acad. Sci. 84: 8125-8129, 1987.
[0027700]18288.Stoilov, I.; Akarsu, A. N.; Alozie, I.; Child, A.; Barsoum-Homsy, M.; Turacli, M. E.; Or, M.; Lewis, R. A.; Ozdemir, N.; Brice, G.; Aktan, S. G.; Chevrette, L.; Coca-Prados, M.; Sarfarazi, M.: Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1. Am. J. Hum. Genet. 62: 573-584, 1998.
[0027701]18289.Stoilov, I.; Akarsu, A. N.; Sarfarazi, M.: Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (buphthalmos) in families linked to the GLC3A locus on chromosome 2p21. Hum. Molec. Genet. 6: 641-647, 1997.
[0027702]18290.Sutter, T. R.; Tang, Y. M.; Hayes, C. L.; Wo, Y.-Y. P.; Jabs, E. W.; Li, X.; Yin, H.; Cody, C. W.; Greenlee, W. F.: Complete cDNA sequence of a human dioxin-inducible mRNA identifies a new gene subfamily of cytochrome P450 that maps to chromosome 2. J. Biol. Chem. 269: 13092-13099, 1994.
[0027703]18291.Tang, Y. M.; Wo, Y.-Y. P.; Stewart, J.; Hawkins, A. L.; Griffin, C. A.; Sutter, T. R.; Greenlee, W. F.: Isolation and characterization of the human cytochrome P450 CYP1B1 gene. J. Biol. Chem. 271: 28324-28330, 1996.
[0027704]18292.Vincent, A.; Billingsley, G.; Priston, M.; Williams-Lyn, D.; Sutherland, J.; Glaser, T.; Oliver, E.; Walter, M. A.; Heathcote, G.; Levin, A.; Heon, E.: Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly. J. Med. Genet. 38: 324-326, 2001.
[0027705]18293.Chen, H. T.; Bhandoola, A.; Difilippantonio, M. J.; Zhu, J.; Brown, M. J.; Tai, X.; Rogakou, E. P.; Brotz, T. M.; Bonner, W. M.; Ried, T.; Nussenzweig, A.: Response to RAG-mediated V(D)J cleavage by NBS1 and gamma-H2AX. Science 290: 1962-1964, 2000.
[0027706]18294.Petersen, S.; Casellas, R.; Reina-San-Martin, B.; Chen, H. T.; Difilippantonio, M. J.; Wilson, P. C.; Hanitsch, L.; Celeste, A.; Muramatsu, M.; Pilch, D. R.; Redon, C.; Ried, T.; Bonner, W. M.; Honjo, T.; Nussenzweig, M. C.; Nussenzweig, A.: AID is required to initiate Nbs1/gamma-H2AX focus formation and mutations at sites of class switching. Nature 414: 660-665, 2001.
[0027707]18295.Lan, M. S.; Lu, J.; Goto, Y.; Notkins, A. L.: Molecular cloning and identification of a receptor-type protein tyrosine phosphatase, IA-2, from human insulinoma. DNA and Cell Biol. 13: 505-514, 1994.
[0027708]18296.Leiter, E. H.; Tsumura, H.; Serreze, D. V.; Chapman, H. D.; Rabin, D. U.; Lan, M. S.; Notkins, A. L.: Mapping to chromosomes 1 and 12 of mouse homologs of human protein tyrosine phosphatase, receptor-type, related genes encoding pancreatic beta cell autoantigens. Mammalian Genome 8: 949-950, 1997.
[0027709]18297.Rabin, D. U.; Pleasic, S. M.; Shapiro, J. A.; Yoo-Warren, H.; Oles, J.; Hicks, J. M.; Goldstein, D. E.; Rae, P. M.: Islet cell antigen 512 is a diabetes-specific islet autoantigen related to protein tyrosine phosphatases. J. Immun. 152: 3183-3188, 1994.
[0027710]18298.Xie, J.; Zhang, B.; Lan, M. S.; Notkins, A. L.: Genomic structure and promoter sequence of the insulin-dependent diabetes mellitus autoantigen, IA-2 (PTPRN). Genomics 54: 338-343, 1998.
[0027711]18299.Demetriou, M.; Granovsky, M.; Quaggin, S.; Dennis, J. W.: Negative regulation of Tcell activation and autoimmunity by Mgat5 N-glycosylation. Nature 409: 733-739, 2001.
[0027712]18300.van den Maagdenberg, A. M. J. M.; Weghuis, D. O.; Rijss, J.; van de Wetering, R. A. C.; Wieringa, B.; van Kessel, A. G.; Hendriks, W. J. A. J.: Assignment of the human gene for receptor-type protein tyrosine phosphatase IA-2 (PTPRN) to chromosome region 2q35-q36.1 and identification of an intragenic genetic marker. Cytogenet. Cell Genet. 73: 145-148, 1996.
[0027713]18301.Granovsky, M.; Fata, J.; Pawling, J.; Muller, W. J.; Khokha, R.; Dennis, J. W.: Suppression of tumor growth and metastasis in Mgat5-deficient mice. Nature Med. 6: 306-12, 2000.
[0027714]18302.Saito, H.; Nishikawa, A.; Gu, J.; Ihara, Y.; Soejima, H.; Wada, Y.; Sekiya, C.; Niikawa, N.; Taniguchi, N.: cDNA cloning and chromosomal mapping of human Nacetylglucosaminyltransferase V+. Biochem. Biophys. Res. Commun. 198: 318-327, 1994.
[0027715]18303.Morasso, M. I.; Yonescu, R.; Griffin, C. A.; Sargent, T. D.: Localization of human DLX8 to chromosome 17q21.3-q22 by fluorescence in situ hybridization. Mammalian Genome 8: 302-303, 1997.
[0027716]18304.Quinn, L. M.; Johnson, B. V.; Nicholl, J.; Sutherland, G. R.; Kalionis, B.: Isolation and identification of homeobox genes from the human placenta including a novel member of the Distal-less family, DLX4. Gene 187: 55-61, 1997.
[0027717]18305.Boddy, M. N.; Howe, K.; Etkin, L. D.; Solomon, E.; Freemont, P. S.: PIC 1, a novel ubiquitin-like protein which interacts with the PML component of a multiprotein complex that is disrupted in acute promyelocytic leukaemia. Oncogene 13: 971-982, 1996.
[0027718]18306.Desterro, J. M. P.; Rodriguez, M. S.; Hay, R. T.: SUMO-1 modification of I-kappa-Balpha inhibits NF-kappa-B activation. Molec. Cell 2: 233-239, 1998.
[0027719]18307.Lapenta, V.; Chiurazzi, P.; van der Spek, P.; Pizzuti, A.; Hanaoka, F.; Brahe, C.: SMT3A, a human homologue of the S. cerevisiae SMT3 gene, maps to chromosome 21qter and defines a novel gene family. Genomics 40: 362-366, 1997.
[0027720]18308.Mao, Y.; Sun, M.; Desai, S. D.; Liu, L. F.: SUMO-1 conjugation to topoisomerase I: a possible repair response to topoisomerase-mediated DNA damage. Proc. Nat. Acad. Sci. 97: 4046-4051, 2000.
[0027721]18309.Okura, T.; Gong, L.; Kamitani, T.; Wada, T.; Okura, I.; Wei, C.-F.; Chang, H.-M.; Yeh, E. T. H.: Protection against Fas/APO-1- and tumor necrosis factor-mediated cell death by a novel protein, sentrin. J. Immun. 157: 4277-4281, 1996.
[0027722]18310.Shen, Z.; Pardington-Purtymun, P. E.; Comeaux, J. C.; Moyzis, R. K.; Chen, D. J.: UBL1, a human ubiquitin-like protein associating with human RAD51/RAD52 proteins. Genomics 36: 271-279, 1996.
[0027723]18311.Bengtsson, E.; Neame, P. J.; Heinegard, D.; Sommarin, Y.: The primary structure of a basic leucine-rich repeat protein, PRELP, found in connective tissues. J. Biol. Chem. 270: 25639-25644, 1995.
[0027724]18312.Grover, J.; Chen, X.-N.; Korenberg, J. R.; Recklies, A. D.; Roughley, P. J.: The gene organization, chromosome location, and expression of a 55-kDa matrix protein (PRELP) of human articular cartilage. Genomics 38: 109-117, 1996.
[0027725]18313.Bigg, H. F.; Shi, Y. E.; Liu, Y. E.; Steffensen, B.; Overall, C. M.: Specific, high affinity binding of tissue inhibitor of metalloproteinases-4 (TIMP-4) to the COOH-terminal hemopexinlike domain of human gelatinase A. J. Biol. Chem. 272: 15496-15500, 1997.
[0027726]18314.Greene, J.; Wang, M.; Liu, Y. E.; Raymond, L. A.; Rosen, C.; Shi, Y. E.: Molecular cloning and characterization of human tissue inhibitor of metalloproteinase 4. J. Biol. Chem. 271: 30375-30380, 1996.
[0027727]18315.Leco, K. J.; Apte, S. S.; Taniguchi, G. T.; Hawkes, S. P.; Khokha, R.; Schultz, G. A.; Edwards, D. R.: Murine tissue inhibitor of metalloproteinases-4 (Timp-4): cDNA isolation and expression in adult mouse tissues. FEBS Lett. 401: 213-217, 1997.
[0027728]18316.Olson, T. M; Hirohata, S.; Ye, J.; Leco, K.; Seldin, M. F.; Apte, S. S.: Cloning of the human tissue inhibitor of metalloproteinase-4 gene (TIMP4) and localization of the TIMP4 and Timp4 gene to human chromosome 3p25 and mouse chromosome 6, respectively. Genomics 51: 148-151, 1998.
[0027729]18317.Wang, M.; Liu, Y. E.; Greene, J.; Sheng, S.; Fuchs, A.; Rosen, E. M.; Shi, Y. E.: Inhibition of tumor growth and metastasis of human breast cancer cells transfected with tissue inhibitor of metalloproteinase 4. Oncogene 14: 2767-2774, 1997.
[0027730]18318.Hsu, L. C.; Chang, W.-C.: Sequencing and expression of the human ALDH8 encoding a new member of the aldehyde dehydrogenase family. Gene 174: 319-322, 1996.
[0027731]18319.Hsu, L. C.; Chang, W.-C.; Lin, S. W.; Yoshida, A.: Cloning and characterization of genes encoding four additional human aldehyde dehydrogenase isozymes. Adv. Exp. Med. Biol. 372: 159-168, 1995.
[0027732]18320.Fujiwara, H.; Tatsumi, K.-I.; Miki, K.; Harada, T.; Okada, S.; Nose, O.; Kodama, S.; Amino, N.: Recurrent T354P mutation of the Na+/I- symporter in patients with iodide transport defect. J. Clin. Endocr. Metab. 83: 2940-2943, 1998.
[0027733]18321.Kosugi, S.; Bhayana, S.; Dean, H. J.: A novel mutation in the sodium/iodide symporter gene in the largest family with iodide transport defect. J. Clin. Endocr. Metab. 84: 3248-3253, 1999.
[0027734]18322.Kosugi, S.; Inoue, S.; Matsuda, A.; Jhiang, S. M.: Novel, missense and loss-of-function mutations in the sodium/iodide symporter gene causing iodide transport defect in three Japanese patients. J. Clin. Endocr. Metab. 83: 3373-3376, 1998.
[0027735]18323.Kosugi, S.; Sato, Y.; Matsuda, A.; Ohyama, Y.; Fujieda, K.; Inomata, H.; Kameya, T.; Isozaki, O.; Jhiang, S. M.: High prevalence of T354P sodium/iodide symporter gene mutation in Japanese patients with iodide transport defect who have heterogeneous clinical pictures. J. Clin. Endocr. Metab. 83: 4123-4129, 1998.
[0027736]18324.Levy, O.; Ginter, C. S.; De la Vieja, A.; Levy, D.; Carrasco, N.: Identification of a structural requirement for thyroid Na(+)/I(-) symporter (NIS) function from analysis of a mutation that causes human congenital hypothyroidism. FEBS Lett. 429: 36-40, 1998.
[0027737]18325.Matsuda, A.; Kosugi, S.: A homozygous missense mutation of the sodium/iodide symporter gene causing iodide transport defect. J. Clin. Endocr. Metab. 82: 3966-3971, 1997.
[0027738]18326.Ohmori, M.; Endo, T.; Harii, N.; Onaya, T.: A novel thyroid transcription factor is essential for thyrotropin-induced up-regulation of Na+/I- symporter gene expression. Molec. Endocr. 12: 727-736, 1998.
[0027739]18327.Pohlenz, J.; Medeiros-Neto, G.; Gross, J. L.; Silveiro, S. P.; Knobel, M.; Refetoff, S.: Hypothyroidism in a Brazilian kindred due to iodide trapping defect caused by a homozygous mutation in the sodium/iodide symporter gene. Biochem. Biophys. Res. Commun. 240: 488-491, 1997.
[0027740]18328.Pohlenz, J.; Rosenthal, I. M.; Weiss, R. E.; Jhiang, S. M.; Burant, C.; Refetoff, S.: Congenital hypothyroidism due to mutations in the sodium/iodide symporter: identification of a nonsense mutation producing a downstream cryptic 3-prime splice site. J. Clin. Invest. 101: 1028-1035, 1998.
[0027741]18329.Smanik, P. A.; Liu, Q.; Furminger, T. L.; Ryu, K.; Xing, S.; Mazzaferri, E. L.; Jhiang, S. M.: Cloning of the human sodium iodide symporter. Biochem. Biophys. Res. Commun. 226: 339-345, 1996.
[0027742]18330.Smanik, P. A.; Ryu, K.-Y.; Theil, K. S.; Mazzaferri, E. L.; Jhiang, S. M.: Expression, exon-intron organization, and chromosome mapping of the human sodium iodide symporter. Endocrinology 138: 3555-3558, 1997.
[0027743]18331.Spitzweg, C.; Joba, W.; Schriever, K.; Goellner, J. R.; Morris, J. C.; Heufelder, A. E.: Analysis of human sodium iodide symporter immunoreactivity in human exocrine glands. J. Clin. Endocr. Metab. 84: 4178-4184, 1999.
[0027744]18332.Venkataraman, G. M.; Yatin, M.; Marcinek, R.; Ain, K. B.: Restoration of iodide uptake in dedifferentiated thyroid carcinoma: relationship to human Na(+)/I(-) symporter gene methylation status. J. Clin. Endocr. Metab. 84: 2449-2457, 1999.
[0027745]18333.Lyon, M. F.; Peters, J.; Glenister, P. H.; Ball, S.; Wright, E. : The scurfy mouse mutant has previously unrecognized hematological abnormalities and resembles Wiskott-Aldrich syndrome. Proc. Nat. Acad. Sci. 87: 2433-2437, 1990.
[0027746]18334.Rawson, R. B.; Zelenski, N. G.; Nijhawan, D.; Ye, J.; Sakai, J.; Hasan, M. T.; Chang, T. Y.; Brown, M. S.; Goldstein, J. L.: Complementation cloning of S2P, a gene encoding a putative metalloprotease required for intramembrane cleavage of SREBPs. Molec. Cell 1: 47-57, 1997.
[0027747]18335.Ye, J.; Rawson, R. B.; Komuro, R.; Chen, X.; Dave, U. P.; Prywes, R.; Brown, M. S.; Goldstein, J. L.: ER stress induces cleavage of membrane-bound ATF6 by the same proteases that process SREBPs. Molec. Cell 6: 1355-1364, 2000.
[0027748]18336.Zelenski, N. G.; Rawson, R. B.; Brown, M. S.; Goldstein, J. L. : Membrane topology of S2P, a protein required for intramembranous cleavage of sterol regulatory element-binding proteins. J. Biol. Chem. 274: 21973-21980, 1999.
[0027749]18337.Baytel, D.; Shalom, S.; Madgar, I.; Weissenberg, R.; Don, J.: The human Pim-2 protooncogene and its testicular expression. Biochim. Biophys. Acta 1442: 274-285, 1998.
[0027750]18338.Cocchia, M.; Huber, R.; Pantano, S.; Chen, E. Y.; Ma, P.; Forabosco, A.; Ko, M. S. H.; Schlessinger, D.: PLAC1, an Xq26 gene with placenta-specific expression. Genomics 68: 305-312, 2000.
[0027751]18339.Kim, V. N.; Kataoka, N.; Dreyfuss, G.: Role of the nonsense-mediated decay factor hUpf3 in the splicing-dependent exon-exon junction complex. Science 293: 1832-1836, 2001.
[0027752]18340.Lykke-Andersen, J.; Shu, M.-D.; Steitz, J. A.: Human Upf proteins target an mRNA for nonsense-mediated decay when bound downstream of a termination codon. Cell 103: 1121-1131, 2000.
[0027753]18341.Scott, A. F.: Personal Communication. Baltimore, Md. 2/9/2001.
[0027754]18342.Serin, G.; Gersappe, A.; Black, J. D.; Aronoff, R.; Maquat, L. E.: Identification and characterization of human orthologues to Saccharomyces cerevisiae Upf2 protein and Upf3 protein (Caenorhabditis elegans SMG-4). Molec. Cell. Biol. 21: 209-223, 2001.
[0027755]18343.Kelley, W. N.; Rosenbloom, F. M.; Henderson, J. F.; Seegmiller, J. E.: A specific enzyme defect in gout associated with overproduction of uric acid. Proc. Nat. Acad. Sci. 57: 1735-1739, 1967.
[0027756]18344.McDonald, J. A.; Kelley, W. N.: Lesch-Nyhan syndrome: altered kinetic properties of mutant enzyme. Science 171: 689-691, 1971.
[0027757]18345.de Leeuw, B.; Balemans, M.; Geurts van Kessel, A.: A novel Kruppel-associated box containing the SSX gene (SSX3) on the human X chromosome is not implicated in t(X;18)-positive synovial sarcomas. Cytogenet. Cell Genet. 73: 179-183, 1996.
[0027758]18346.Gure, A. O.; Tureci, O.; Sahin, U.; Tsang, S.; Scanlan, M. J.; Jager, E.; Knuth, A.; Pfreundschuh, M.; Old, L. J.; Chen, Y.-T.: SSX: a multigene family with several members transcribed in normal testis and human cancer. Int. J. Cancer 72: 965-971, 1997.
[0027759]18347.Sossey-Alaoui, K.; Lyon, J. A.; Jones, L.; Abidi, F. E.; Hartung, A. J.; Hane, B.; Schwartz, C. E.; Stevenson, R. E.; Srivastava, A. K.: Molecular cloning and characterization of TRPC5 (HTRP5), the human homologue of a mouse brain receptor-activated capacitative Ca(2+) entry channel. Genomics 60: 330-340, 1999.
[0027760]18348.Tipnis, S. R.; Hooper, N. M.; Hyde, R.; Karran, E.; Christie, G.; Turner, A. J.: A human homolog of angiotensin-converting enzyme: cloning and functional expression as a captoprilinsensitive carboxypeptidase. J. Biol. Chem. 275: 33238-33243, 2000.
[0027761]18349.Johnson, R. E.; Kondratick, C. M.; Prakash, S.; Prakash, L.: hRAD30 mutations in the variant form of xeroderma pigmentosum. Science 285: 263-265, 1999.
[0027762]18350.Masutani, C.; Kusumoto, R.; Yamada, A.; Dohmae, N.; Yokoi, M.; Yuasa, M.; Araki, M.; Iwai, S.; Takio, K.; Hanaoka, F.: The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta. Nature 399: 700-704, 1999.
[0027763]18351.Neitz, M.; Neitz, J.: Numbers and ratios of visual pigment genes for normal red-green color vision. Science 267: 1013-1016, 1995.
[0027764]18352.Reyniers, E.; Van Thienen, M.-N.; Meire, F.; De Boulle, K.; Devries, K.; Kestelijn, P.; Willems, P. J.: Gene conversion between red and defective green opsin gene in blue cone monochromacy. Genomics 29: 323-328, 1995.
[0027765]18353.Ruberg, F. L.; Skene, D. J.; Hanifin, J. P.; Rollag, M. D.; English, J.; Arendt, J.; Brainard, G. C.: Melatonin regulation in humans with color vision deficiencies. J. Clin. Endocr. Metab. 81: 2980-2985, 1996.
[0027766]18354.Ueyama, H.; Kuwayama, S.; Imai, H.; Tanabe, S.; Oda, S.; Nishida, Y.; Wada, A.; Shichida, Y.; Yamade, S.: Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies. Biochem. Biophys. Res. Commun. 294: 205-209, 2002.
[0027767]18355.Brunner, W.: Ueber den Vererbungsmodus der verschiedenen Typen der angeborenen Rotgruenblindheit. Albrecht von Graefes Arch. Ophthal. 124: 1-52, 1932.
[0027768]18356.Crone, R. A.: Spectral sensitivity in color-defective subjects and heterozygous carriers. Am. J. Ophthal. 48: 231-238, 1959.
[0027769]18357.Deeb, S. S.; Lindsey, D. T.; Hibiya, Y.; Sanocki, E.; Winderickx, J.; Teller, D. Y.; Motulsky, A. G.: Genotype-phenotype relationships in human red/green color-vision defects: molecular and psychophysical studies. Am. J. Hum. Genet. 51: 687-700, 1992.
[0027770]18358.Drummond-Borg, M.; Deeb, S.; Motulsky, A. G.: Molecular basis of abnormal redgreen color vision: a family with three types of color vision defects. Am. J. Hum. Genet. 43: 675-683, 1988.
[0027771]18359.Emmerson, B. T.; Thompson, L.; Wallace, D. C.; Spence, M. A.: Absence of measurable linkage between the loci for hypoxanthine-guanine phosphoribosyltransferase and deutan color blindness. Am. J. Hum. Genet. 26: 78-82, 1974.
[0027772]18360.Keating, J. P.; Brown, B. I.; White, N. H.; DiMauro, S.: X-linked glycogen storage disease: a cause of hypotonia, hyperuricemia, and growth retardation. Am. J. Dis. Child. 139: 609-613, 1985.
[0027773]18361.Krebs, E. G.; Love, D. S.; Bratvold, G. E.; Trayser, K. A.; Meyer, W. L.; Fischer, E. H.: Purification and properties of rabbit skeletal muscle phosphorylase B kinase. Biochemistry 3: 1022-1033, 1964.
[0027774]18362.Kumatori, A.; Faizunnessa, N. N.; Suzuki, S.; Moriuchi, T.; Kurozumi, H.; Nakamura, M.: Nonhomologous recombination between the cytochrome b-558 heavy chain gene (CYBB) and LINE-1 causes an X-linked chronic granulomatous disease. Genomics 53: 123-128, 1998.
[0027775]18363.Lyon, J. B., Jr.; Porter, J.; Robertson, M.: Phosphorylase B kinase inheritance in mice. Science 155: 1550-1551, 1967.
[0027776]18364.Malthus, R.; Clark, D. G.; Watts, C.; Sneyd, J. G. T.: Glycogen-storage disease in rats, a genetically determined deficiency of liver phosphorylase kinase. Biochem. J. 188: 99-106, 1980.
[0027777]18365.McAdams, A. J.; Hug, G.; Bove, K. E.: Glycogen storage disease, type I to X: criteria for morphologic diagnosis. Hum. Path. 5: 463-487, 1974.
[0027778]18366.Migeon, B. R.; Huijing, F.: Glycogen-storage disease associated with phosphorylase kinase deficiency: evidence for X inactivation. Am. J. Hum. Genet. 26: 360-368, 1974.
[0027779]18367.Nagai, T.; Matsuo, N.; Tsuchiya, Y.; Cho, H.; Hasegawa, Y.; Igarashi, Y.: Proximal renal tubular acidosis associated with glycogen storage disease, type 9. Acta Paediat. Scand. 77: 460-463, 1988.
[0027780]18368.Ryder-Cook, A. S.; Derry, J. M. J.; Barnard, P. J.: Localization of the phosphorylase kinase alpha subunit gene on the mouse X chromosome. (Abstract) Cytogenet. Cell Genet. 51: 1071-1072, 1989.
[0027781]18369.Schimke, R. N.; Zakheim, R. M.; Corder, R. C.; Hug, G.: Glycogen storage disease type IX: benign glycogenosis of liver and hepatic phosphorylase kinase deficiency. J. Pediat. 83: 1031-1034, 1973.
[0027782]18370.Schneider, A.; Davidson, J. J.; Wullrich, A.; Kilimann, M. W. : Phosphorylase kinase deficiency in I-strain mice is associated with a frameshift mutation in the alpha-subunit muscle isoform. Nature Genet. 5: 381-385, 1993.
[0027783]18371.van den Berg, I. E. T.; van Beurden, E. A. C. M.; Malingre, H. E. M.; Ploos van Amstel, H. K.; Poll-The, B. T.; Smeitink, J. A. M.; Lamers, W. H.; Berger, R.: X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit. Am. J. Hum. Genet. 56: 381-387, 1995.
[0027784]18372.Varsanyi, M.; Vrbica, A.; Heilmeyer, L. M. G., Jr.: X-linked dominant inheritance of partial phosphorylase kinase deficiency in mice. Biochem. Genet. 18: 247-261, 1980.
[0027785]18373.Wallis, P. G.; Sidbury, J. B., Jr.; Harris, R. C.: Hepatic phosphorylase defect. Studies on peripheral blood. Am. J. Dis. Child. 111: 278-282, 1966.
[0027786]18374.Wauters, J. G.; Bossuyt, P. J.; Davidson, J.; Hendrickx, J.; Kilimann, M. W.; Willems, P. J.: Regional mapping of a liver alpha-subunit gene of phosphorylase kinase (PHKA) to the distal region of human chromosome Xp. Cytogenet. Cell Genet. 60: 194-196, 1992.
[0027787]18375.Willems, P. J.; Gerver, W. J. M.; Berger, R.; Fernandes, J.: The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients. Europ. J. Pediat. 149: 268-271, 1990.
[0027788]18376.Willems, P. J.; Hendrickx, J.; Van der Auwera, B. J.; Vits, L.; Raeymaekers, P.; Coucke, P. J.; Van den Bergh, I.; Berger, R.; Smit, G. P. A.; Van Broeckhoven, C.; Kilimann, M. W.; Van Elsen, A. F.; Fernandes, J. F.: Mapping of the gene for X-linked liver glycogenosis due to phosphorylase kinase deficiency to human chromosome region Xp22. Genomics 9: 565-569, 1991.
[0027789]18377.Williams, H. E.; Field, J. B.: Low leukocyte phosphorylase in hepatic phosphorylase deficient glycogen storage disease. J. Clin. Invest. 40: 1841-1845, 1961.
[0027790]18378.Zander, N. F.; Meyer, H. E.; Hoffmann-Posorske, E.; Crabb, J. W.; Heilmeyer, L. M. G., Jr.; Kilimann, M. W.: cDNA cloning and complete primary structure of skeletal muscle phosphorylase kinase (alpha subunit). Proc. Nat. Acad. Sci. 85: 2929-2933, 1988.
[0027791]18379.Berta, P.; Hawkins, J. R.; Sinclair, A. H.; Taylor, A.; Griffiths, B. L.; Goodfellow, P. N.; Fellous, M.: Genetic evidence equating SRY and the testis-determining factor. Nature 348: 448-450, 1990.
[0027792]18380.Disteche, C. M.; Casanova, M.; Saal, H.; Friedman, C.; Sybert, V.; Graham, J.; Thuline, H.; Page, D.; Fellous, M.: Small deletions of the short arm of the Y chromosome in 46,XY females. Proc. Nat. Acad. Sci. 83: 7841-7844, 1986.
[0027793]18381.Georgopoulos, N. A.; Pralong, F. P.; Seidman, C. E.; Seidman, J. G.; Crowley, W. F., Jr.; Vallejo, M.: Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency. J. Clin. Endocr. Metab. 82: 213-217, 1997.
[0027794]18382.Guioli, S.; Incerti, B.; Zanaria, E.; Bardoni, B.; Franco, B.; Taylor, K.; Ballabio, A.; Camerino, G.: Kallmann syndrome due to a translocation resulting in an X/Y fusion gene. Nature Genet. 1: 337-340, 1992.
[0027795]18383.Hardelin, J.-P.; Levilliers, J.; Blanchard, S.; Carel, J.-C.; Leutenegger, M.; Pinard-Bertelletto, J.-P.; Bouloux, P.; Petit, C. : Heterogeneity in the mutations responsible for X chromosomelinked Kallmann syndrome. Hum. Molec. Genet. 2: 373-377, 1993.
[0027796]18384.Hardelin, J.-P.; Levilliers, J.; del Castillo, I.; Cohen-Salmon, M.; Legouis, R.; Blanchard, S.; Compain, S.; Bouloux, P.; Kirk, J.; Moraine, C.; Chaussain, J.-L.; Weissenbach, J.; Petit, C.: X chromosome-linked Kallmann syndrome: stop mutations validate the candidate gene. Proc. Nat. Acad. Sci. 89: 8190-8194, 1992.
[0027797]18385.Henkin, R. I.: Abnormalities of taste and olfaction in patients with chromatin negative gonadal dysgenesis. J. Clin. Endocr. 27: 1436-1440, 1967.
[0027798]18386.Hermanussen, M.; Sippell, W. G.: Heterogeneity of Kallmann's syndrome. Clin. Genet. 28: 106-111, 1985.
[0027799]18387.Hipkin, L. J.; Casson, I. F.; Davis, J. C.: Identical twins discordant for Kallmann's syndrome. J. Med. Genet. 27: 198-199, 1990.
[0027800]18388.Incerti, B.; Guioli, S.; Pragliola, A.; Zanaria, E.; Borsani, G.; Tonlorenzi, R.; Bardoni, B.; Franco, B.; Wheeler, D.; Ballabio, A.; Camerino, G.: Kallmann syndrome gene on the X and Y chromosomes: implications for evolutionary divergence of human sex chromosomes. Nature Genet. 2: 311-314, 1992.
[0027801]18389.Kirk, J. M. W.; Grant, D. B.; Besser, G. M.; Shalet, S.; Quinton, R.; Smith, C. S.; White, M.; Edwards, O.; Bouloux, P.-M. G.: Unilateral renal aplasia in X-linked Kallmann's syndrome. Clin. Genet. 46: 260-262, 1994.
[0027802]18390.Krams, M.; Quinton, R.; Ashburner, J.; Friston, K. J.; Frackowiak, R. S. J.; Bouloux, P.-M. G.; Passingham, R. E.: Kallmann's syndrome: mirror movements associated with bilateral corticospinal tract hypertrophy. Neurology 52: 816-822, 1999.
[0027803]18391.Legouis, R.; Cohen-Salmon, M.; del Castillo, I.; Levilliers, J.; Capy, L.; Mornon, J.-P.; Petit, C.: Characterization of the chicken and quail homologues of the human gene responsible for the Xlinked Kallmann syndrome. Genomics 17: 516-518, 1993.
[0027804]18392.Legouis, R.; Hardelin, J.-P.; Levilliers, J.; Claverie, J.-M.; Compain, S.; Wunderle, V.; Millasseau, P.; Le Paslier, D.; Cohen, D.; Caterina, D.; Bougueleret, L.; Delemarre-Van de Waal, H.; Lutfalla, G.; Weissenbach, J.; Petit, C.: The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules. Cell 67: 423-435, 1991.
[0027805]18393.Males, J. L.; Townsend, J. L.; Schneider, R. A.: Hypogonadotropic hypogonadism with anosmia--Kallmann's syndrome: a disorder of olfactory and hypothalamic function. Arch. Intern. Med. 131: 501-507, 1973.
[0027806]18394.Maya-Nunez, G.; Covarrubias, S. C.; Zenteno, J. C.; Ulloa-Aguirre, A.; Kofman-Alfaro, S.; Mendez, J. P.: Contiguous gene syndrome due to deletion of the first three exons of the Kallmann gene and complete deletion of the steroid sulphatase gene. Clin. Endocr. 48: 713-718, 1998.
[0027807]18395.Maya-Nunez, G.; Zenteno, J. C.; Ulloa-Aguirre, A.; Kofman-Alfaro, S.; Mendez, J. P.: A recurrent missense mutation in the KAL gene in patients with X-linked Kallmann's syndrome. J. Clin. Endocr. Metab. 83: 1650-1653, 1998.
[0027808]18396.Meitinger, T.; Heye, B.; Petit, C.; Levilliers, J.; Golla, A.; Moraine, C.; Dalla Piccola, B.; Sippell, W. G.; Murken, J.; Ballabio, A.: Definitive localization of X-linked Kallmann syndrome (hypogonadotropic hypogonadism and anosmia) to Xp22.3: close linkage to the hypervariable repeat sequence CRI-S232. Am. J. Hum. Genet. 47: 664-669, 1990.
[0027809]18397.Nagata, K.; Yamamoto, T.; Chikumi, H.; Ikeda, T.; Yamamoto, H.; Hashimoto, K.; Yoneda, K.; Nanba, E.; Ninomiya, H.; Ishitobi, K.: A novel interstitial deletion of KAL1 in a Japanese family with Kallmann syndrome. J. Hum. Genet. 45: 237-240, 2000.
[0027810]18398.Nass, R.: Mirror movement asymmetries in congenital hemiparesis: the inhibition hypothesis revisited. Neurology 35: 1059-1062, 1985.
[0027811]18399.Nowakowski, H.; Lenz, W.: Genetic aspects in male hypogonadism. Recent Prog. Horm. Res. 17: 53-95, 1961.
[0027812]18400.Oppermann, D.; Happ, J.; Mayr, W. R.: Stimulation of spermatogenesis and biological paternity by intranasal (low dose) gonadotropin-releasing hormone (GnRH) in a male with Kallmann's syndrome: intraindividual comparison of GnRH and gonadotropins for stimulation of spermatogenesis. J. Clin. Endocr. Metab. 65: 1060-1066, 1987.
[0027813]18401.Parenti, G.; Rizzolo, M. G.; Ghezzi, M.; Di Maio, S.; Sperandeo, M. P.; Incerti, B.; Franco, B.; Ballabio, A.; Andria, G.: Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene. Am. J. Med. Genet. 57: 476-478, 1995.
[0027814]18402.Pawlowitzki, I. H.; Diekstall, P.; Schadel, A.; Miny, P.: Estimating frequency of Kallmann syndrome among hypogonadic and among anosmic patients. Am. J. Med. Genet. 26: 473-479, 1987.
[0027815]18403.Petit, C.; Levilliers, J.; Weissenbach, J.: Long-range restriction map of the terminal part of the short arm of the human X chromosome. Proc. Nat. Acad. Sci. 87: 3680-3684, 1990.
[0027816]18404.Pittman, J.: Personal Communication. Boston, Mass. 1966.
[0027817]18405.Prager, D.; Braunstein, G. D.: X-chromosome-linked Kallmann's syndrome: pathology at the molecular level. J. Clin. Endocr. Metab. 76: 824-826, 1993.
[0027818]18406.Imperato-McGinley, J.; Peterson, R. E.; Leshin, M.; Griffin, J. E.; Cooper, G.; Draghi, S.; Berenyi, M.; Wilson, J. D.: Steroid 5 alpha-reductase deficiency in a 65-year-old male pseudohermaphrodite: the natural history, ultrastructure of the testes, and evidence for inherited enzyme heterogeneity. J. Clin. Endocr. Metab. 50: 15-22, 1980.
[0027819]18407.Jenkins, E. P.; Andersson, S.; Imperato-McGinley, J.; Wilson, J. D.; Russell, D. W.: Genetic and pharmacological evidence for more than one human steroid 5-alpha-reductase. J. Clin. Invest. 89: 293-300, 1992.
[0027820]18408.Francke, U.; Taggart, R. T.: Assignment of the gene for cytoplasmic superoxide dismutase (Sod-1) to a region of chromosome 16 and HPRT to a region of the X-chromosome in the mouse. Proc. Nat. Acad. Sci. 76: 5230-5233, 1979.
[0027821]18409.Francke, U.; Taggart, R. T.: Regional mapping of SOD-1 on mouse chromosome 16, and of HPRT and alpha-GAL (Ags) on the mouse X, using Chinese hamster-mouse T(X;16)16H somatic cell hybrids. (Abstract) Cytogenet. Cell Genet. 25: 155-156, 1979.
[0027822]18410.Fujimori, S.; Davidson, B. L.; Kelley, W. N.; Palella, T. D.: Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRT-Yale) responsible for Lesch-Nyhan syndrome. J. Clin. Invest. 83: 11-13, 1989.
[0027823]18411.Fujimori, S.; Hidaka, Y.; Davidson, B. L.; Palella, T. D.; Kelley, W. N.: Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT-Ann Arbor). Hum. Genet. 79: 39-43, 1988.
[0027824]18412.Fujimori, S.; Kamatani, N.; Nishida, Y.; Ogasawara, N.; Akaoka, I.: Hypoxanthine guanine phosphoribosyltransferase deficiency: nucleotide substitution causing Lesch-Nyhan syndrome identified for the first time among Japanese. Hum. Genet. 84: 483-486, 1990.
[0027825]18413.Fujimori, S.; Tagaya, T.; Kamatani, N.; Akaoka, I.: A germ line mutation within the coding sequence for the putative 5-phosphoribosyl-1-pyrophosphate binding site of hypoxanthine-guanine phosphoribosyltransferase (HPRT) in a Lesch-Nyhan patient: missense mutations within a functionally important region probably cause disease. Hum. Genet. 90: 385-388, 1992.
[0027826]18414.Fujimori, S.; Tagaya, T.; Yamaoka, N.; Kamatani, N.; Akaoka, I. : Identification of mutations leading to the Lesch-Nyhan syndrome in two unrelated Japanese patients. (Abstract) Jpn. J. Hum. Genet. 36: 58 only, 1991.
[0027827]18415.Gellin, J.; Benne, F.; Renard, C.; Vaiman, M.; Hors-Cayla, M. C.; Gillois, M.: Pig gene mapping: synteny, attempt to assign the histocompatibility complex (SLA). (Abstract) Cytogenet. Cell Genet. 25: 159 only, 1979.
[0027828]18416.Gibbs, R. A.; Caskey, C. T.: Identification and localization of mutations at the Lesch-Nyhan locus by ribonuclease A cleavage. Science 236: 303-305, 1987.
[0027829]18417.Gibbs, R. A.; Nguyen, P.-N.; Edwards, A.; Civitello, A. B.; Caskey, C. T.: Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families. Genomics 7: 235-244, 1990.
[0027830]18418.Gibbs, R. A.; Nguyen, P.-N.; McBride, L. J.; Koepf, S. M.; Caskey, C. T.: Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA. Proc. Nat. Acad. Sci. 86: 1919-1923, 1989.
[0027831]18419.Gordon, R. B.; Dawson, P. A.; Sculley, D. G.; Emmerson, B. T.; Caskey, C. T.; Gibbs, R. A.: The molecular characterisation of HPRT(Chermside) and HPRT(Coorparoo): two Lesch-Nyhan patients with reduced amounts of mRNA. Gene 108: 299-304, 1991.
[0027832]18420.Gordon, R. B.; Sculley, D. G.; Dawson, P. A.; Beacham, I. R.; Emmerson, B. T.: Identification of a single nucleotide substitution in the coding sequence of in vitro amplified cDNA from a patient with partial HPRT deficiency (HPRT-Brisbane). J. Inherit. Metab. Dis. 13: 692-700, 1990.
[0027833]18421.Greene, M. L.: Clinical features of patients with the 'partial' deficiency of the X-linked uricaciduria enzyme. Arch. Intern. Med. 130: 193-198, 1972.
[0027834]18422.Gutensohn, W.; Jahn, H.: Partial deficiency of hypoxanthinephosphoribosyltransferase: evidence for a structural mutation in a patient with gout. Europ. J. Clin. Invest. 9: 43-47, 1979.
[0027835]18423.Hashmi, S.; Miller, O. J.: Further evidence of X-linkage of hypoxanthine phosphoribosyl-transferase in the mouse. Cytogenet. Cell Genet. 17: 35-41, 1976.
[0027836]18424.Anguiano, A.; Oates, R. D.; Amos, J. A.; Dean, M.; Gerrard, B.; Stewart, C.; Maher, T. A.; White, M. B.; Milunsky, A.: Congenital bilateral absence of the vas deferens: a primarily genital form of cystic fibrosis. J.A.M.A. 267: 1794-1797, 1992.
[0027837]18425.Chillon, M.; Casals, T.; Mercier, B.; Bassas, L.; Lissens, W.; Silber, S.; Romey, M.-C.; Ruiz-Romero, J.; Verlingue, C.; Claustres, M.; Nunes, V.; Ferec, C.; Estivill, X.: Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. New Eng. J. Med. 332: 1475-1480, 1995.
[0027838]18426.Dumur, V.; Gervais, R.; Rigot, J.-M.; Delomel-Vinner, E.; Decaestecker, B.; Lafitte, J.-J.; Roussel, P.: Congenital bilateral absence of the vas deferens (CBAVD) and cystic fibrosis transmembrane regulator (CFTR): correlation between genotype and phenotype. Hum. Genet. 97: 7-10, 1996.
[0027839]18427.Andersson, M.; Page, D. C.; de la Chapelle, A.: Chromosome Y-specific DNA is transferred to the short arm of X chromosome in human XX males. Science 233: 786-788, 1986.
[0027840]18428.Ferguson-Smith, M. A.: X-Y chromosomal interchange in the aetiology of true hermaphroditism and of XX Klinefelter's syndrome. Lancet II: 475-476, 1966.
[0027841]18429.Tiepolo, L.; Zuffardi, O.: Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum. Genet. 34: 119-124, 1976.
[0027842]18430.Sertie, A. L.; Sossi, V.; Camargo, A. A.; Zatz, M.; Brahe, C.; Passos-Bueno, M. R.: Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome). Hum. Molec. Genet. 9: 2051-2058, 2000.
[0027843]18431.Fujiwara, H.; Tatsumi, K.; Miki, K.; Harada, T.; Miyai, K.; Takai, S.; Amino, N.: Congenital hypothyroidism caused by a mutation in the Na(+)/I(-) symporter. (Letter) Nature Genet. 16: 124-125, 1997.
[0027844]18432.Muroi, J.; Yorifuji, T.; Uematsu, A.; Shigematsu, Y.; Onigata, K.; Maruyama, H.; Nobutoki, T.; Kitamura, A.; Nakahata, T.: Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency. Hum. Genet. 107: 320-326, 2000.
[0027845]18433.Ozand, P. T.; Al Aqeel, A.; Gascon, G.; Brismar, J.; Thomas, E.; Gleispach, H.: 3-Hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency in Saudi Arabia. J. Inherit. Metab. Dis. 14: 174-188, 1991.
[0027846]18434.Ozand, P. T.; Devol, E. B.; Gascon, G. G.: Neurometabolic diseases at a national referral center: five years experience at the King Faisal Specialist Hospital and Research Centre. J. Child Neurol. 7 (suppl.): S4-S11, 1992.
[0027847]18435.Ribes, A.; Briones, P.; Vilaseca, M. A.; Baraibar, R.; Gairi, J. M.: Sudden death in an infant with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. J. Inherit. Metab. Dis. 13: 752-753, 1990.
[0027848]18436.Robinson, B. H.; Oei, J.; Sherwood, W. G.; Slyper, A. H.; Heininger, J.; Mamer, O. A.: Hydroxymethylglutaryl CoA lyase deficiency: features resembling Reye syndrome. Neurology 30: 714-718, 1980.
[0027849]18437.Roe, C. R.; Millington, D. S.; Maltby, D. A.: Identification of 3-methylglutarylcarnitine: a new diagnostic metabolite of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency. J. Clin. Invest. 77: 1391-1394, 1986.
[0027850]18438.Shilkin, R.; Wilson, G.; Owles, E.: 3-Hydroxy-3-methylglutaryl coenzyme A lyase deficiency: follow-up of first described case. Acta Paediat. Scand. 70: 265-268, 1981.
[0027851]18439.Shutgens, R. B. H.; Haymans, H.; Ketel, A.: Lethal hypoglycemia in a child with a deficiency of 3-hydroxy-3-methylglutaryl coenzyme A lyase. J. Pediat. 94: 89-91, 1979.
[0027852]18440.Sovik, O.; Sweetman, L.; Gibson, K. M.; Nyhan, W. L.: Genetic complementation analysis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency in cultured fibroblasts. Am. J. Hum. Genet. 36: 791-801, 1984.
[0027853]18441.Wanders, R. J. A.; Schutgens, R. B. H.; Zoeters, P. H. M.: 3-Hydroxy-3-methylglutaryl-CoA lyase in human skin fibroblasts: study of its properties and deficient activity in 3-hydroxy-3-methylglutaric aciduria patients using a simple spectrophotometric method. Clin. Chim. Acta 171: 95-102, 1988.
[0027854]18442.Wang, S.; Nadeau, J. H.; Duncan, A.; Robert, M.-F.; Fontaine, G.; Schappert, K.; Johnson, K. R.; Zietkiewicz, E.; Hruz, P.; Miziorko, H.; Mitchell, G. A.: 3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL): cloning and characterization of a mouse liver HL cDNA and subchromosomal mapping of the human and mouse HL genes. Mammalian Genome 4: 382-387, 1993.
[0027855]18443.Wang, S. P.; Marth, J. D.; Oligny, L. L.; Vachon, M.; Robert, M.-F.; Ashmarina, L.; Mitchell, G. A.: 3-Hydroxy-3-methylglutaryl-CoA lyase (HL): gene targeting causes prenatal lethality in HL-deficient mice. Hum. Molec. Genet. 7: 2057-2062, 1998.
[0027856]18444.Wang, S. P.; Robert, M.-F.; Gibson, K. M.; Wanders, R. J. A.; Mitchell, G. A.: 3-Hydroxy-3-methylglutaryl CoA lyase (HL): mouse and human HL gene (HMGCL) cloning and detection of large gene deletions in two unrelated HL-deficient patients. Genomics 33: 99-104, 1996.
[0027857]18445.Wilson, W. G.; Cass, M. B.; Sovik, O.; Gibson, K. M.; Sweetman, L.: A child with acute pancreatitis and recurrent hypoglycemia due to 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. Europ. J. Pediat. 142: 289-291, 1984.
[0027858]18446.Wysocki, S. J.; Hahnel, R.: 3-Hydroxy-3-methylglutaric aciduria: 3-hydroxy-3-methylglutaryl-coenzyme A lyase levels in leucocytes. Clin. Chim. Acta 73: 373-375, 1976.
[0027859]18447.Wysocki, S. J.; Hahnel, R.: 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: a review. J. Inherit. Metab. Dis. 9: 225-233, 1986.
[0027860]18448.Laporte, J.; Kioschis, P.; Hu, L.-J.; Kretz, C.; Carlsson, B.; Poustka, A.; Mandel, J. L.; Dahl, N.: Cloning and characterization of an alternatively spliced gene in proximal Xq28 deleted in two patients with intersexual genitalia and myotubular myopathy. Genomics 41: 458-462, 1997.
[0027861]18449.Caspi, M.; Atlas, R.; Kantor, A.; Sapir, T.; Reiner, O.: Interaction between LIS1 and doublecortin, two lissencephaly gene products. Hum. Molec. Genet. 9: 2205-2213, 2000.
[0027862]18450.des Portes, V.; Francis, F.; Pinard, J.-M.; Desguerre, I.; Moutard, M.-L.; Snoeck, I.; Meiners, L. C.; Capron, F.; Cusmai, R.; Ricci, S.; Motte, J.; Echenne, B.; Ponsot, G.; Dulac, O.; Chelly, J.; Beldjord, C.: Doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH). Hum. Molec. Genet. 7: 1063-1070, 1998.
[0027863]18451.Gleeson, J. G.; Lin, P. T.; Flanagan, L. A.; Walsh, C. A.: Doublecortin is a microtubule-associated protein and is expressed widely by migrating neurons. Neuron 23: 257-271, 1999.
[0027864]18452.Gleeson, J. G.; Minnerath, S.; Kuzniecky, R. I.; Dobyns, W. B.; Young, I. D.; Ross, M. E.; Walsh, C. A.: Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes. Am. J. Hum. Genet. 67: 574-581, 2000.
[0027865]18453.Gleeson, J. G.; Minnerath, S. R.; Fox, J. W.; Allen, K. M.; Luo, R. F.; Hong, S. E.; Berg, M. J.; Kuzniecky, R.; Reitnauer, P. J.; Borgatti, R.; Puche Mira, A.; Guerrini, R.; and 14 others: Characterization of mutations in the gene doublecortin in patients with double cortex syndrome. Ann. Neurol. 45: 146-153, 1999.
[0027866]18454.Pilz, D. T.; Kuc, J.; Matsumoto, N.; Bodurtha, J.; Bernadi, B.; Tassinari, C. A.; Dobyns, W. B.; Ledbetter, D. H.: Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. Hum. Molec. Genet. 8: 1757-1760, 1999.
[0027867]18455.Sapir, T.; Horesh, D.; Caspi, M.; Atlas, R.; Burgess, H. A.; Wolf, S. G.; Francis, F.; Chelly, J.; Elbaum, M.; Pietrokovski, S.; Reiner, O.: Doublecortin mutations cluster in evolutionarily conserved functional domains. Hum. Molec. Genet. 9: 703-712, 2000.
[0027868]18456.Shmueli, O.; Gdalyahu, A.; Sorokina, K.; Nevo, E.; Avivi, A.; Reiner, O.: DCX in PC12 cells: CREB-mediated transcription and neurite outgrowth. Hum. Molec. Genet. 10: 1061-1070, 2001.
[0027869]18457.Sossey-Alaoui, K.; Hartung, A. J.; Guerrini, R.; Manchester, D. K.; Posar, A.; Puche-Mira, A.; Andermann, E.; Dobyns, W. B.; Srivastava, A. K.: Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca(2+)-dependent signaling protein which is mutated in human X-linked neuronal migration defects. Hum. Molec. Genet. 7: 1327-1332, 1998.
[0027870]18458.Vourc'h, P.; Petit, E.; Muh, J. P.; Andres, C.; Bienvenu, T.; Beldjord, C.; Chelly, J.; Barthelemy, C.: Exclusion of the coding sequence of the doublecortin gene as a susceptibility locus in autistic disorder. (Letter) Am. J. Med. Genet. 108: 164-167, 2002.
[0027871]18459.Farnsworth, D.: The Farnsworth-Munsell 100 hue and dichotomy tests for colour vision. J. Ophthal. Soc. Am. 33: 568-578, 1943.
[0027872]18460.Franceschetti, A.; Klein, D.: Two families with parents of different types of red-green blindness. Acta Genet. Statist. Med. 7: 255-259, 1957.
[0027873]18461.Fraser, G. R.: Estimation of the recombination fraction between the protan and deutan loci. Am. J. Hum. Genet. 21: 593-599, 1969.
[0027874]18462.Kalmus, H.: Diagnosis and Genetics of Defective Colour Vision. Oxford: Pergamon Press (pub.) 1965.
[0027875]18463.Kondo, T.: Untersuchungen bei angeborenen Farbensinn-Anomalien. Ueber das Zustandekommen und Wesen der angeborenen Farbensinn-Anomalien. Acta Soc. Ophthal. Jpn. 45: 659, 1941.
[0027876]18464.Nemoto, H.; Murao, M.: A genetic study of colorblindness. Jpn. J. Hum. Genet. 6: 165-173, 1961.
[0027877]18465.Schmidt, I.: A sign of manifest heterozygosity in carriers of color deficiency. Am. J. Optom. 32: 404-408, 1955.
[0027878]18466.Siniscalco, M.; Filippi, G.; Latte, B.: Recombination between protan and deutan genes: data on their relative positions in respect of the G6PD locus. Nature 204: 1062-1064, 1964.
[0027879]18467.Sloan, L. L.: Evaluation of the Tokyo Medical College color vision test. Am. J. Ophthal. 52: 650-659, 1961.
[0027880]18468.Thuline, H. C.; Hodgkin, W. E.; Fraser, G. R.; Motulsky, A. G. : Genetics of protan and deutan color-vision anomalies: an instructive family. Am. J. Hum. Genet. 21: 581-592, 1969.
[0027881]18469.Vanderdonck, R.; Verriest, G.: Femme protanomale et heterozygote mixte (genes de la protanomalie et de la deuteranopie en position de repulsion) ayant deux fils deuteranopes, un fils protanomal et deux fils normaux. Biotypologie 21: 110-120, 1960.
[0027882]18470.von Kries, J.; Nagel, W.: Ueber den Einfluss von Lichtstaerke und Adaptation auf das Sehen des Dichromaten (Gruenblinden). Ztschr. Psychol. Physiol. Sinnesorg. 12: 1-38, 1896.
[0027883]18471.von Planta, P.: Die Haeufigkeit der angeborenen Farbensinnstoerungen bei Knaben und Maedchen und ihre Feststellung durch die ueblichen klinischen Proben. Albrecht von Graefes Arch. Klin. Exp. Ophthal. 120: 253-281, 1928.
[0027884]18472.Waaler, G. H.: Ueber die Erblichkeitsverhaeltnisse der verschiedenen Arten von angeborener Rotgruenblindheit. Ztschr. F. Indukt. Abstammungs-u. Vererbungsl. 45: 279-333, 1927.
[0027885]18473.Winderickx, J.; Lindsey, D. T.; Sanocki, E.; Teller, D. Y.; Motulsky, A. G.; Deeb, S. S.: Polymorphism in red photopigment underlies variation in colour matching. Nature 356: 431-433, 1992.
[0027886]18474.Bordarier, C.; Robain, O.; Rethore, M.-O.; Dulac, O.; Dhellemmes, C.: Inverted neurons in agyria: a Golgi study of a case with abnormal chromosome 17. Hum. Genet. 73: 374-378, 1986.
[0027887]18475.Chong, S. S.; Lo Nigro, C.; Roschke, A. V.; Tanigami, A.; Pack, S. D.; Smith, A. C. M.; Carrozzo, R.; Dobyns, W. B.; Ledbetter, D. H.: Point mutations and an intragenic deletion in three ILS patients confirm LIS1 as the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. (Abstract) Am. J. Hum. Genet. 59 (suppl.): A23 only, 1996.
[0027888]18476.Hanahan, D. J. A.: Platelet activating factor: a biologically active phosphoglyceride. Annu. Rev. Biochem. 55: 483-509, 1986.
[0027889]18477.Hattori, M.; Adachi, H.; Tsujimoto, M.; Arai, H.; Inoue, K.: Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor. Nature 370: 216-218, 1994.
[0027890]18478.Hattori, M.; Arai, H.; Inoue, K.: Purification and characterization of bovine brain platelet-activating factor acetylhydrolase. J. Biol. Chem. 268: 18748-18753, 1993.
[0027891]18479.Ye, L.; Nakura, J.; Mitsuda, N.; Fujioka, Y.; Kamino, K.; Ohta, T.; Jinno, Y.; Niikawa, N.; Miki, T.; Ogihara, T.: Genetic association between chromosome 8 microsatellite (MS8-134) and Werner syndrome (WRN): chromosome microdissection and homozygosity mapping. Genomics 28: 566-569, 1995.
[0027892]18480.Yu, C.-E.; Oshima, J.; Fu, Y.-H.; Wijsman, E. M.; Hisama, F.; Alisch, R.; Matthews, S.; Nakura, J.; Miki, T.; Quais, S.; Martin, G. M.; Mulligan, J.; Schellenberg, G. D.: Positional cloning of the Werner's syndrome gene. Science 272: 258-262, 1996.
[0027893]18481.Yu, C.-E.; Oshima, J.; Goddard, K. A. B.; Miki, T.; Nakura, J.; Ogihara, T.; Poot, M.; Hoehn, H.; Fraccaro, M.; Piussan, C.; Martin, G. M.; Schellenberg, G. D.; Wijsman, E. M.: Linkage disequilibrium and haplotype studies of chromosome 8p11.1-21.1 markers and Werner syndrome. Am. J. Hum. Genet. 55: 356-364, 1994.
[0027894]18482.Yu, C.-E.; Oshima, J.; Wijsman, E. M.; Nakura, J.; Miki, T.; Piussan, C.; Matthews, S.; Fu, Y.-H.; Mulligan, J.; Martin, G. M.; Schellenberg, G. D.; Werner's Syndrome Collaborative Group: Mutations in the consensus helicase domains of the Werner syndrome gene. Am. J. Hum. Genet. 60: 330-341, 1997.
[0027895]18483.Gibbons, R. J.; Brueton, L.; Buckle, V. J.; Burn, J.; Clayton-Smith, J.; Davison, B. C. C.; Gardner, R. J. M.; Homfray, T.; Kearney, L.; Kingston, H. M.; Newbury-Ecob, R.; Porteous, M. E. P.; Wilkie, A. O. M.; Higgs, D. R.: Clinical and hematologic aspects of the X-linked alphathalassemia/ mental retardation syndrome (ATR-X). Am. J. Med. Genet. 55: 288-299, 1995.
[0027896]18484.Marchese, A.; Sawzdargo, M.; Nguyen, T.; Cheng, R.; Heng, H. H. Q.; Nowak, T.; Im, D-S.; Lynch, K. R.; George, S. R.; O'Dowd, B. F. : Discovery of three novel orphan G-protein-coupled receptors. Genomics 56: 12-21, 1999.
[0027897]18485.Sanchis, D.; Fleury, C.; Chomiki, N.; Goubern, M.; Huang, Q.; Neverova, M.; Gregoire, F.; Easlick, J.; Raimbault, S.; Levi-Meyrueis, C.; Miroux, B.; Collins, S.; Seldin, M.; Richard, D.; Warden, C.; Bouillaud, F.; Ricquier, D.: BMCP1, a novel mitochondrial carrier with high expression in the central nervous system of humans and rodents, and respiration uncoupling activity in recombinant yeast. J. Biol. Chem. 273: 34611-34615, 1998.
[0027898]18486.Blanco, P.; Sargent, C. A.; Boucher, C. A.; Mitchell, M.; Affara, N. A.: Conservation of PCDHX in mammals; expression of X/Y genes predominantly in brain. Mammalian Genome 11: 906-914, 2000.
[0027899]18487.Ciccodicola, A.; D'Esposito, M.; Esposito, T.; Gianfrancesco, F.; Migliaccio, C.; Miano, M. G.; Matarazzo, M. R.; Vacca, M.; Franze, A.; Cuccurese, M.; Cocchia, M.; Curci, A.; and 9 others: Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region. Hum. Molec. Genet. 9: 395-401, 2000.
[0027900]18488.Mumm, S.; Molini, B.; Terrell, J.; Srivastava, A.; Schlessinger, D.: Evolutionary features of the 4-Mb Xq21.3 XY homology region revealed by a map at 60-kb resolution. Genome Res. 7: 307-314, 1997.
[0027901]18489.Schwartz, A.; Chan, D. C.; Brown, L. G.; Alagappan, R.; Pettay, D.; Disteche, C.; McGillivray, B.; de la Chapelle, A.; Page, D. C. : Reconstructing hominid Y evolution: X-homologous block, created by X-Y transposition, was disrupted by Yp inversion through LINE-LINE recombination. Hum. Molec. Genet. 7: 1-11, 1998.
[0027902]18490.Tilford, C. A.; Kuroda-Kawaguchi, T.; Skaletsky, H.; Rozen, S.; Brown, L. G.; Rosenberg, M.; McPherson, J. D.; Wylie, K.; Sekhon, M.; Kucaba, T. A.; Waterston, R. H.; Page, D. C.: A physical map of the human Y chromosome. Nature 409: 943-945, 2001.
[0027903]18491.des Portes, V.; Pinard, J. M.; Billuart, P.; Vinet, M. C.; Koulakoff, A.; Carrie, A.; Gelot, A.; Dupuis, E.; Motte, J.; Berwald-Netter, Y.; Catala, M.; Kahn, A.; Beldjord, C.; Chelly, J.: A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome. Cell 92: 51-61, 1998.
[0027904]18492.Gleeson, J. G.; Allen, K. M.; Fox, J. W.; Lamperti, E. D.; Berkovic, S.; Scheffer, I.; Cooper, E. C.; Dobyns, W. B.; Minnerath, S. R.; Ross, M. E.; Walsh, C. A.: Doublecortin, a brainspecific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. Cell 92: 63-72, 1998.
[0027905]18493.Matsumoto, N.; Leventer, R. J.; Kuc, J. A.; Mewborn, S. K.; Dudlicek, L. L.; Ramocki, M. B.; Pilz, D. T.; Mills, P. L.; Das, S.; Ross, M. E.; Ledbetter, D. H.; Dobyns, W. B.: Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia. Europ. J. Hum. Genet. 9: 5-12, 2001.
[0027906]18494.Batch, J. A.; Evans, B. A. J.; Hughes, I. A.; Patterson, M. N. : Mutations of the androgen receptor gene identified in perineal hypospadias. J. Med. Genet. 30: 198-201, 1993.
[0027907]18495.Gibbons, R. J.; McDowell, T. L.; Raman, S.; O'Rourke, D. M.; Garrick, D.; Ayyub, H.; Higgs, D. R.: Mutations in ATRX, encoding a SWI/SNF-like protein, cause diverse changes in the pattern of DNA methylation. Nature Genet. 24: 368-371, 2000.
[0027908]18496.Gibbons, R. J.; Picketts, D. J.; Villard, L.; Higgs, D. R.: Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome). Cell 80: 837-845, 1995.
[0027909]18497.Kiesewetter, S.; Macek, M., Jr.; Davis, C.; Curristin, S. M.; Chu, C.-S.; Graham, C.; Shrimpton, A. E.; Cashman, S. M.; Tsui, L.-C.; Mickle, J.; Amos, J.; Highsmith, W. E.; Shuber, A.; Witt, D. R.; Crystal, R. G.; Cutting, G. R.: A mutation in CFTR produces different phenotypes depending on chromosomal background. Nature Genet. 5: 274-278, 1993.
[0027910]18498.Lossi, A. M.; Millan, J. M.; Villard, L.; Orellana, C.; Cardoso, C.; Prieto, F.; Fontes, M.; Martinez, F.: Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias. (Letter) Am. J. Hum. Genet. 65: 558-562, 1999.
[0027911]18499.Martinez, F.; Tomas, M.; Millan, J. M.; Fernandez, A.; Palau, F.; Prieto, F.: Genetic localisation of mental retardation with spastic diplegia to the pericentromeric region of the X chromosome: X inactivation in female carriers. J. Med. Genet. 35: 284-287, 1998.
[0027912]18500.Mattei, J. F.; Collignon, P.; Ayme, S.; Giraud, F.: X-linked mental retardation, growth retardation, deafness and microgenitalism: a second familial report. Clin. Genet. 23: 70-74, 1983.
[0027913]18501.McDowell, T. L.; Gibbons, R. J.; Sutherland, H.; O'Rourke, D. M.; Bickmore, W. A.; Pombo, A.; Turley, H.; Gatter, K.; Picketts, D. J.; Buckle, V. J.; Chapman, L.; Rhodes, D.; Higgs, D. R.: Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes. Proc. Nat. Acad. Sci. 96: 13983-13988, 1999.
[0027914]18502.Pask, A.; Renfree, M. B.; Graves, J. A. M.: The human sex-reversing ATRX gene has a homologue on the marsupial Y chromosome, ATRY: implications for the evolution of mammalian sex determination. Proc. Nat. Acad. Sci. 97: 13198-13202, 2000.
[0027915]18503.Picketts, D. J.; Higgs, D. R.; Bachoo, S.; Blake, D. J.; Quarrell, O. W. J.; Gibbons, R. J.: ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome. Hum. Molec. Genet. 5: 1899-1907, 1996.
[0027916]18504.Picketts, D. J.; Tastan, A. O.; Higgs, D. R.; Gibbons, R. J.: Comparison of the human and murine ATRX gene identifies highly conserved, functionally important domains. Mammalian Genome 9: 400-403, 1998.
[0027917]18505.Reardon, W.; Gibbons, R. J.; Winter, R. M.; Baraitser, M.: Male pseudohermaphroditism in sibs with the alpha-thalassemia/mental retardation (ATR-X) syndrome. Am. J. Med. Genet. 55: 285-287, 1995.
[0027918]18506.Stayton, C. L.; Dabovic, B.; Gulisano, M.; Gecz, J.; Broccoli, V.; Giovanazzi, S.; Bossolasco, M.; Monaco, L.; Rastan, S.; Boncinelli, E.; Bianchi, M. E.; Consalez, G. G.: Cloning and characterization of a new human Xq13 gene, encoding a putative helicase. Hum. Molec. Genet. 3: 1957-1964, 1994.
[0027919]18507.Villard, L.; Bonino, M.-C.; Abidi, F.; Ragusa, A.; Belougne, J.; Lossi, A.-M.; Seaver, L.; Bonnefont, J.-P.; Romano, C.; Fichera, M.; Lacombe, D.; Hanauer, A.; Philip, N.; Schwartz, C.; Fontes, M.: Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome. J. Med. Genet. 36: 183-186, 1999.
[0027920]18508.Villard, L.; Fontes, M.; Ades, L. C.; Gecz, J.: Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome. (Letter) Am. J. Med. Genet. 91: 83-85, 2000.
[0027921]18509.Villard, L.; Gecz, J.; Mattei, J. F.; Fontes, M.; Saugier-Veber, P.; Munnich, A.; Lyonnet, S.: XNP mutation in a large family with Juberg-Marsidi syndrome. (Letter) Nature Genet. 12: 359-360, 1996.
[0027922]18510.Villard, L.; Lacombe, D.; Fontes, M.: A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia. Europ. J. Hum. Genet. 4: 316-320, 1996.
[0027923]18511.Villard, L.; Lossi, A.-M.; Cardoso, C.; Proud, V.; Chiaroni, P.; Colleaux, L.; Schwartz, C.; Fontes, M.: Determination of the genomic structure of the XNP/ATRX gene encoding a potential zinc finger helicase. Genomics 43: 149-155, 1997.
[0027924]18512.Villard, L.; Toutain, A.; Lossi, A.-M.; Gecz, J.; Houdayer, C.; Moraine, C.; Fontes, M.: Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia. Am. J. Hum. Genet. 58: 499-505, 1996.
[0027925]18513.Wada, T.; Kubota, T.; Fukushima, Y.; Saitoh, S.: Molecular genetic study of Japanese patients with X-linked alpha-thalassemia/mental retardation syndrome (ATR-X). Am. J. Med. Genet. 94: 242-248, 2000.
[0027926]18514.Wang, L. H.; Collins, A.; Lawrence, S.; Keats, B. J.; Morton, N. E.: Integration of gene maps: chromosome X. Genomics 22: 590-604, 1994.
[0027927]18515.Yntema, H. G.; Poppelaars, F. A.; Derksen, E.; Oudakker, A. R.; van Roosmalen, T.; Jacobs, A.; Obbema, H.; Brunner, H. G.; Hamel, B. C. J.; van Bokhoven, H.: Expanding phenotype of XNP mutations: mild to moderate mental retardation. Am. J. Med. Genet. 110: 243-247, 2002.
[0027928]18516.Borkhardt, A.; Repp, R.; Haas, O. A.; Leis, T.; Harbott, J.; Kreuder, J.; Hammermann, J.; Henn, T.; Lampert, F.: Cloning and characterization of AFX, the gene that fuses to MLL in acute leukemias with a t(X;11)(q13;q23). Oncogene 14: 195-202, 1997.
[0027929]18517.Katz, F.; Hinshelwood, S.; Rutland, P.; Jones, A.; Kinnon, C.; Morgan, G.: Mutation analysis in CD40 ligand deficiency leading to X-linked hypogammaglobulinemia with hyper IgM syndrome. Hum. Mutat. 8: 223-228, 1996.
[0027930]18518.Kolvraa, S.; Kruse, T. A.; Jensen, P. K. A.; Linde, K. H.; Vestergaard, S. R.; Bolund, L.: Close linkage between X-linked ectodermal dysplasia and a cloned DNA sequence detecting a two allele restriction fragment length polymorphism in the region Xp11-q12. Hum. Genet. 74: 284-287, 1986.
[0027931]18519.Korthauer, U.; Graf, D.; Mages, H. W.; Briere, F.; Padayachee, M.; Malcolm, S.; Ugazio, A. G.; Notarangelo, L. D.; Levinsky, R. J.; Kroczek, R. A.: Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM. Nature 361: 539-541, 1993.
[0027932]18520.Kraakman, M. E. M.; de Weers, M.; Espanol, T.; Schuurman, R. K. B.; Hendriks, R. W.: Identification of a CD40L gene mutation and genetic counselling in a family with immunodeficiency with hyperimmunoglobulinemia M. Clin. Genet. 48: 46-48, 1995.
[0027933]18521.Kroczek, R. A.; Graf, D.; Brugnoni, D.; Giliani, S.; Korthauer, U.; Ugazio, A.; Senger, G.; Mages, H. W.; Villa, A.; Notarangelo, L. D.: Defective expression of CD40 ligand on T cell causes 'X-linked immunodeficiency with hyper-IgM (HIGM1)'. Immun. Rev. 138: 39-59, 1994.
[0027934]18522.Lin, Q.; Rohrer, J.; Allen, R. C.; Larche, M.; Greene, J. M.; Shigeoka, A. O.; Gatti, R. A.; Derauf, D. C.; Belmont, J. W.; Conley, M. E.: A single strand conformation polymorphism study of CD40 ligand: efficient mutation analysis and carrier detection of X-linked hyper IgM syndrome. J. Clin. Invest. 97: 196-201, 1996.
[0027935]18523.Nonoyama, S.; Shimadzu, M.; Toru, H.; Seyama, K.; Nunoi, H.; Neubauer, M.; Yata, J.; Och, H. D.: Mutations of the CD40 ligand gene in 13 Japanese patients with X-linked hyper-IgM syndrome. Hum. Genet. 99: 624-627, 1997.
[0027936]18524.Padayachee, M.; Feighery, C.; Finn, A.; McKeown, C.; Levinsky, R. J.; Kinnon, C.; Malcolm, S.: Mapping of the X-linked form of hyper-IgM syndrome (HIGM1) to Xq26 by close linkage to HPRT. Genomics 14: 551-553, 1992.
[0027937]18525.Macchi, P.; Villa, A.; Strina, D.; Sacco, M. G.; Morali, F.; Brugnoni, D.; Giliani, S.; Mantuano, E.; Fasth, A.; Andersson, B.; Zegers, B. J. M.; Cavagni, G.; Reznick, I.; Levy, J.; Zan-Bar, I.; Porat, Y.; Airo, P.; Plebani, A.; Vezzoni, P.; Notarangelo, L. D.: Characterization of nine novel mutations in the CD40 ligand gene in patients with X-linked hyper IgM syndrome of various ancestry. Am. J. Hum. Genet. 56: 898-906, 1995.
[0027938]18526.Padayachee, M.; Levinsky, R. J.; Kinnon, C.; Finn, A.; McKeown, C.; Feighery, C.; Notarangelo, L. D.; Hendriks, R. W.; Read, A. P.; Malcolm, S.: Mapping of the X linked form of hyper IgM syndrome (HIGM1). J. Med. Genet. 30: 202-205, 1993.
[0027939]18527.Pilia, G.; Porta, B.; Padayachee, M.; Malcolm, S.; Zucchi, I.; Villa, A.; Macchi, P.; Vezzoni, P.; Schlessinger, D.: Human CD40L gene maps between DXS144E and DXS300 in Xq26. Genomics 22: 249-251, 1994.
[0027940]18528.Ramesh, N.; Fuleihan, R.; Geha, R.: Molecular pathology of X-linked immunoglobulin deficiency with normal or elevated IgM (HIGMX-1). Immun. Rev. 138: 87-104, 1994.
[0027941]18529.Seyama, K.; Kira, S.; Ishidoh, K.; Souma, S.; Miyakawa, T.; Kominami, E.: Genomic structure and PCR-SSCP analysis of the human CD40 ligand gene: its application to prenatal screening for X-linked hyper-IgM syndrome. Human Genet. 97: 180-185, 1996.
[0027942]18530.Seyama, K.; Nonoyama, S.; Gangsaas, I.; Hollenbaugh, D.; Pabst, H. F.; Aruffo, A.; Ochs, H. D.: Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome. Blood 92: 2421-2434, 1998.
[0027943]18531.Tan, J.; Town, T.; Crawford, F.; Mori, T.; DelleDonne, A.; Crescentini, R.; Obregon, D.; Flavell, R. A.; Mullan, M. J.: Role of CD40 ligand in amyloidosis in transgenic Alzheimer's mice. Nature Neurosci. 28Oct, 2002. Note: Advance Electronic Publication.
[0027944]18532.Chatterjee, A.; Faust, C. J.; Herman, G. E.: Genetic and physical mapping of the biglycan gene on the mouse X chromosome. Mammalian Genome 4: 33-36, 1993.
[0027945]18533.Das, S.; Metzenberg, A.; Pai, G. S.; Gitschier, J.: Mutational analysis of the biglycan gene excludes it as a candidate for X-linked dominant chondrodysplasia punctata, dyskeratosis congenita, and incontinentia pigmenti. (Letter) Am. J. Hum. Genet. 54: 922-925, 1994.
[0027946]18534.Fisher, L. W.; Heegaard, A.-M.; Vetter, U.; Vogel, W.; Just, W.; Termine, J. D.; Young, M. F.: Human biglycan gene: putative promoter, intron-exon junctions, and chromosomal localization. J. Biol. Chem. 266: 14371-14377, 1991.
[0027947]18535.Fisher, L. W.; Termine, J. D.; Young, M. F.: Deduced-protein sequence of bone small proteoglycan I (biglycan) shows homology with proteoglycan II (decorin) and several nonconnective tissue proteins in a variety of species. J. Biol. Chem. 264: 4571-4576, 1989.
[0027948]18536.Geerkens, C.; Vetter, U.; Just, W.; Fedarko, N. S.; Fisher, L. W.; Young, M. F.; Termine, J. D.; Gehron Robey, P.; Wohrle, D.; Vogel, W.: The X-chromosomal human biglycan gene BGN is subject to X inactivation but is transcribed like an X-Y homologous gene. Hum. Genet. 96: 44-52, 1995.
[0027949]18537.McBride, O. W.; Fisher, L. W.; Young, M. F.: Localization of PGI (biglycan, BGN) and PGII (decorin, DCN, PG-40) genes on human chromosomes Xq13-qter and 12q, respectively. Genomics 6: 219-225, 1990.
[0027950]18538.Traupe, H.; van den Ouweland, A. M. W.; van Oost, B. A.; Vogel, W.; Vetter, U.; Warren, S. T.; Rocchi, M.; Darlison, M. G.; Ropers, H.-H.: Fine mapping of the human biglycan (BGN) gene within the Xq28 region employing a hybrid cell panel. Genomics 13: 481-483, 1992.
[0027951]18539.Wegrowski, Y.; Pillarisetti, J.; Danielson, K. G.; Suzuki, S.; Iozzo, R. V.: The murine biglycan: complete cDNA cloning, genomic organization, promoter function, and expression. Genomics 30: 8-17, 1995.
[0027952]18540.Xu, T.; Bianco, P.; Fisher, L. W.; Longenecker, G.; Smith, E.; Goldstein, S.; Bonadio, J.; Boskey, A.; Heegaard, A.-M.; Sommer, B.; Satomura, K.; Dominguez, P.; Zhao, C.; Kulkarni, A. B.; Robey, P. G.; Young, M. F.: Targeted disruption of the biglycan gene leads to an osteoporosis-like phenotype in mice. Nature Genet. 20: 78-82, 1998.
[0027953]18541.Sandhoff, K.; Harzer, K.; Wassle, W.; Jatzkewitz, H.: Enzyme alterations and lipid storage in three variants of Tay-Sachs disease. J. Neurochem. 18: 2469-2489, 1971.
[0027954]18542.Bowcock, A. M.; Farrer, L. A.; Hebert, J. M.; Agger, M.; Sternlieb, I.; Scheinberg, I. H.; Buys, C. H. C. M.; Scheffer, H.; Frydman, M.; Chajek-Saul, T.; Bonne-Tamir, B.; Cavalli-Sforza, L. L.: Eight closely linked loci place the Wilson disease locus within 13q14-q21. Am. J. Hum. Genet. 43: 664-674, 1988.
[0027955]18543.Yoshida, K.; Sugano, S.: Identification of a novel protocadherin gene (PCDH11) on the human XY homology region in Xq21.3. Genomics 62: 540-543, 1999.
[0027956]18544.de la Chapelle, A.; Sankila, E.-M.; Lindlof, M.; Aula, P.; Norio, R.: Norrie disease caused by a gene deletion allowing carrier detection and prenatal diagnosis. Clin. Genet. 28: 317-320, 1985.
[0027957]18545.Denney, R. M.; Fritz, R. R.; Patel, N. T.; Abell, C. W.: Human liver MAO-A and MAO-B separated by immunoaffinity chromatography with MAO-B-specific monoclonal antibody. Science 215: 1400-1403, 1982.
[0027958]18546.Kochersperger, L. M.; Parker, E. L.; Siciliano, M.; Darlington, G. J.; Denney, R. M.: Assignment of genes for human monoamine oxidases A and B to the X chromosome. J. Neurosci. Res. 16: 601-616, 1986.
[0027959]18547.Sims, K. B.; de la Chapelle, A.; Norio, R.; Sankila, E.-M.; Hsu, Y.-P. P.; Rinehart, W. B.; Corey, T. J.; Ozelius, L.; Powell, J. F.; Bruns, G.; Gusella, J. F.; Murphy, D. L.; Breakefield, X. O.: Monoamine oxidase deficiency in males with an X chromosome deletion. Neuron 2: 1069-1076, 1989.
[0027960]18548.Binda, C.; Newton-Vinson, P.; Hubalek, F.; Edmondson, D. E.; Mattevi, A.: Structure of human monoamine oxidase B, a drug target for the treatment of neurological disorders. Nature Struct. Biol. 9: 22-26, 2002.
[0027961]18549.Checkoway, H.; Franklin, G. M.; Costa-Mallen, P.; Smith-Weller, T.; Dilley, J.; Swanson, P. D.; Costa, L. G.: A genetic polymorphism of MAO-B modifies the association of cigarette smoking and Parkinson's disease. Neurology 50: 1458-1461, 1998.
[0027962]18550.Fowler, J. S.; Volkow, N. D.; Wang, G.-J.; Pappas, N.; Logan, J.; MacGregor, R.; Alexoff, D.; Shea, C.; Schlyer, D.; Wolf, A. P.; Warner, D.; Zezulkova, I.; Cilento, R.: Inhibition of monoamine oxidase B in the brains of smokers. Nature 379: 733-736, 1996.
[0027963]18551.Hamano, Y.; Kodama, H.; Fujikawa, Y.; Tanaka, Y.; Nishimura, K.; Yanagisawa, M.: Use of immunocytochemical analysis of a duodenal biopsy specimen to identify a carrier of ornithine transcarbamylase deficiency. New Eng. J. Med. 318: 1521-1523, 1988.
[0027964]18552.Bull, P. C.; Thomas, G. R.; Rommens, J. M.; Forbes, J. R.; Cox, D. W.: The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nature Genet. 5: 327-337, 1993.
[0027965]18553.Forbes, J. R.; Cox, D. W.: Copper-dependent trafficking of Wilson disease mutant ATP7B proteins. Hum. Molec. Genet. 9: 1927-1935, 2000.
[0027966]18554.Ha-Hao, D.; Hefter, H.; Stremmel, W.; Castaneda-Guillot, C.; Hernandez, A. H.; Cox, D. W.; Auburger, G.: His1069-to-gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype. Europ. J. Hum. Genet. 6: 616-623, 1998.
[0027967]18555.Grino, P. B.; Griffin, J. E.; Cushard, W. G., Jr.; Wilson, J. D.: A mutation of the androgen receptor associated with partial androgen resistance, familial gynecomastia, and fertility. J. Clin. Endocr. Metab. 66: 754-761, 1988.
[0027968]18556.Holterhus, P.-M.; Sinnecker, G. H. G.; Hiort, O.: Phenotypic diversity and testosteroneinduced normalization of mutant L712F androgen receptor function in a kindred with androgen insensitivity. J. Clin. Endocr. Metab. 85: 3245-3250, 2000.
[0027969]18557.Hughes, I. A.; Evans, B. A. J.: Complete androgen insensitivity syndrome characterized by increased concentration of a normal androgen receptor in genital skin fibroblasts. J. Clin. Endocr. Metab. 63: 309-315, 1986.
[0027970]18558.Imperato-McGinley, J.; Ip, N. Y.; Gautier, T.; Neuweiler, J.; Gruenspan, H.; Liao, S.; Chang, C.; Balazs, I.: DNA linkage analysis and studies of the androgen receptor gene in a large kindred with complete androgen insensitivity. Am. J. Med. Genet. 36: 104-108, 1990.
[0027971]18559.Jukier, L.; Kaufman, M.; Pinsky, L.; Peterson, R. E.: Partial androgen resistance associated with secondary 5-alpha-reductase deficiency: identification of a novel qualitative androgen receptor defect and clinical implications. J. Clin. Endocr. Metab. 59: 679-688, 1984.
[0027972]18560.Kaufman, M.; Pinsky, L.; Bowin, A.; Au, M. W. S.: Familial external genital ambiguity due to a transformation defect of androgen-receptor complexes that is expressed with 5-alphadihydrotestosterone and the synthetic androgen methyltrienolone. Am. J. Med. Genet. 18: 493-507, 1984.
[0027973]18561.Kaufman, M.; Straisfeld, C.; Pinsky, L.: Male pseudohermaphroditism presumably due to target organ unresponsiveness to androgens: deficient 5-alpha-dihydrotestosterone binding in cultured skin fibroblasts. J. Clin. Invest. 58: 345-350, 1976.
[0027974]18562.Keenan, B. S.; Meyer, W. J., III; Hadjian, A. J.; Jones, H. W.; Migeon, C. J.: Syndrome of androgen insensitivity in man: absence of 5-alpha-dihydrotestosterone binding protein in skin fibroblasts. J. Clin. Endocr. 38: 1143-1146, 1974.
[0027975]18563.Liao, S.; Witte, D.: Autoimmune anti-androgen-receptor antibodies in human serum. Proc. Nat. Acad. Sci. 82: 8345-8348, 1985.
[0027976]18564.Lin, S.-Y.; Ohno, S.: The binding of androgen receptor to DNA and RNA. Biochim. Biophys. Acta 654: 181-186, 1981.
[0027977]18565.Aradhya, S.; Bardaro, T.; Galgoczy, P.; Yamagata, T.; Esposito, T.; Patlan, H.; Ciccodicola, A.; Munnich, A.; Kenwrick, S.; Platzer, M.; D'Urso, M.; Nelson, D. L.: Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes. Hum. Molec. Genet. 10: 2557-2567, 2001.
[0027978]18566.Aradhya, S.; Courtois, G.; Rajkovic, A.; Lewis, R. A.; Levy, M.; Israel, A.; Nelson, D. L.: Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma). Am. J. Hum. Genet. 68: 765-771, 2001.
[0027979]18567.Aradhya, S.; Woffendin, H.; Jakins, T.; Bardaro, T.; Esposito, T.; Smahi, A.; Shaw, C.; Levy, M.; Munnich, A.; D'Urso, M.; Lewis, R. A.; Kenwrick, S.; Nelson, D. L.: A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations. Hum. Molec. Genet. 10: 2171-2179, 2001.
[0027980]18568.Doffinger, R.; Smahi, A.; Bessia, C.; Geissmann, F.; Feinberg, J.; Durandy, A.; Bodemer, C.; Kenwrick, S.; Dupuis-Girod, S.; Blanche, S.; Wood, P.; Rabia, S. H.; and 16 others: Xlinked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappa-B signaling. Nature Genet. 27: 277-285, 2001.
[0027981]18569.Jain, A.; Ma, C. A.; Liu, S.; Brown, M.; Cohen, J.; Strober, W. : Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic (sic) ectodermal dysplasia. Nature Immun. 2: 223-228, 2001.
[0027982]18570.Jin, D. Y.; Jeang, K. T.: Isolation of full-length cDNA and chromosomal localization of human NF-kappaB modulator NEMO to Xq28. J. Biomed. Sci. 6: 115-120, 1999.
[0027983]18571.Kosaki, K.; Shimasaki, N.; Fukushima, H.; Hara, M.; Ogata, T.; Matsuo, N.: Female patient showing hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID). (Letter) Am. J. Hum. Genet. 69: 664-665, 2001.
[0027984]18572.Li, Q.; Van Antwerp, D.; Mercurio, F.; Lee, K.-F.; Verma, I. M. : Severe liver degeneration in mice lacking the I-kappa-B kinase 2 gene. Science 284: 321-325, 1999.
[0027985]18573.Li, Y.; Kang, J.; Friedman, J.; Tarassishin, L.; Ye, J.; Kovalenko, A.; Wallach, D.; Horwitz, M. S.: Identification of a cell protein (FIP-3) as a modulator of NF-kappa-B activity and as a target of an adenovirus inhibitor of tumor necrosis factor alpha-induced apoptosis. Proc. Nat. Acad. Sci. 96: 1042-1047, 1999.
[0027986]18574.Makris, C.; Godfrey, V. L.; Krahn-Senftleben, G.; Takahashi, T.; Roberts, J. L.; Schwarz, T.; Feng, L.; Johnson, R. S.; Karin, M.: Female mice heterozygous for IKK-gamma/NEMO deficiencies develop a dermatopathy similar to the human X-linked disorder incontinentia pigmenti. Molec. Cell 5: 969-979, 2000.
[0027987]18575.May, M. J.; D'Acquisto, F.; Madge, L. A.; Glockner, J.; Pober, J. S.; Ghosh, S.: Selective inhibition of NF-kappa-B activation by a peptide that blocks the interaction of NEMO with the I-kappa-B kinase complex. Science 289: 1550-1554, 2000.
[0027988]18576.Roberts, J. L.; Morrow, B.; Vega-Rich, C.; Salafia, C. M.; Nitowsky, H. M.: Incontinentia pigmenti in a newborn male infant with DNA confirmation. Am. J. Med. Genet. 75: 159-163, 1998.
[0027989]18577.Rothwarf, D. M.; Zandi, E.; Natoli, G.; Karin, M.: IKK-gamma is an essential regulatory subunit of the I-kappa-B kinase complex. Nature 395: 297-300, 1998.
[0027990]18578.Rudolph, D.; Yeh, W.-C.; Wakeham, A.; Rudolph, B.; Nallainathan, D.; Potter, J.; Elia, A. J.; Mak, T. W.: Severe liver degeneration and lack of NF-kappa-B activation in NEMO/IKK-gammadeficient mice. Genes Dev. 14: 854-862, 2000.
[0027991]18579.Schmidt-Supprian, M.; Bloch, W.; Courtois, G.; Addicks, K.; Israel, A.; Rajewsky, K.; Pasparakis, M.: NEMO/IKK-gamma-deficient mice model incontinentia pigmenti. Molec. Cell 5: 981-992, 2000.
[0027992]18580.The International Incontinentia Pigmenti Consortium: Genomic rearrangement in NEMO impairs NF-kappa-B activation and is a cause of incontinentia pigmenti. Nature 405: 466-472, 2000.
[0027993]18581.The International IP Consortium: Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome. Am. J. Hum. Genet. 69: 1210-1217, 2001.
[0027994]18582.Yamaoka, S.; Courtois, G.; Bessia, C.; Whiteside, S. T.; Weil, R.; Agou, F.; Kirk, H. E.; Kay, R. J.; Israel, A.: Complementation cloning of NEMO, a component of the I-kappa-B kinase complex essential for NF-kappa-B activation. Cell 93: 1231-1240, 1998.
[0027995]18583.Zonana, J.; Elder, M. E.; Schneider, L. C.; Orlow, S. J.; Moss, C.; Golabi, M.; Shapira, S. K.; Farndon, P. A.; Wara, D. W.; Emmal, S. A.; Ferguson, B. M.: A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). Am. J. Hum. Genet. 67: 1555-1562, 2000.
[0027996]18584.Bauer, M. F.; Gempel, K.; Reichert, A. S.; Rappold, G. A.; Lichtner, P.; Gerbitz, K.-D.; Neupert, W.; Brunner, M.; Hofmann, S.: Genetic and structural characterization of the human mitochondrial inner membrane translocase. J. Molec. Biol. 289: 69-82, 1999.
[0027997]18585.Kruse, T. A.; Kolvraa, S.; Bolund, L.; Kaitila, I.; Soderholm, A. L.; de la Chapelle, A.; MacDermot, K. D.: X-linked anhidrotic ectodermal dysplasia (EDA): multipoint linkage analysis. (Abstract) Cytogenet. Cell Genet. 51: 1026, 1989.
[0027998]18586.Limon, J.; Filipiuk, J.; Nedoszytko, B.; Mrozek, K.; Castren, M.; Larramendy, M.; Roszkiewicz, J.: X-linked anhidrotic ectodermal dysplasia and de novo t(X;1) in a female. Hum. Genet. 87: 338-340, 1991.
[0027999]18587.MacDermot, K. D.; Hulten, M.: Female with hypohidrotic ectodermal dysplasia and de novo (X;9) translocation: clinical documentation of the AnLy cell line case. Hum. Genet. 84: 577-579, 1990.
[0028000]18588.MacDermot, K. D.; Malcolm, S.: X linked hypohidrotic ectodermal dysplasia (CST syndrome): clinical and molecular study using X chromosome markers. (Abstract) J. Med. Genet. 23: 167, 1986.
[0028001]18589.MacDermot, K. D.; Morgan, S. H.; Cheshire, J. K.; Wilson, T. M.; Kaitila, I.; Soderholm, L.; de la Chapelle, A.; Kolvraa, S.; Bolund, L.; Kruse, T. A.: X-linked anhidrotic ectodermal dysplasia (EDA): two point and multipoint linkage analysis using 7 polymorphic DNA markers. (Abstract) Cytogenet. Cell Genet. 46: 653-654, 1987.
[0028002]18590.MacDermot, K. D.; Winter, R. M.; Malcolm, S.: Gene localisation of X-linked hypohidrotic ectodermal dysplasia (C-S-T syndrome). Hum. Genet. 74: 172-173, 1986.
[0028003]18591.Malagon, V.; Taveras, J. E.: Congenital anhidrotic ectodermal and mesodermal dysplasia. Arch. Derm. 74: 253-258, 1956.
[0028004]18592.Monreal, A. W.; Zonana, J.; Ferguson, B.: Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations. Am. J. Hum. Genet. 63: 380-389, 1998.
[0028005]18593.Pedrini, V.; Lennzi, L.; Zamtotti, V.: Isolation and identification of keratosulphate in urine of patients affected by Morquio-Ullrich disease. Proc. Soc. Exp. Biol. Med. 110: 847-849, 1962.
[0028006]18594.Riedner, E. D.; Levin, L. S.: Hearing patterns in Morquio's syndrome (mucopolysaccharidosis IV). Arch. Otolaryng. 103: 518-520, 1977.
[0028007]18595.Robins, M. M.; Stevens, H. F.; Linker, A.: Morquio's disease: an abnormality of mucopolysaccharide metabolism. J. Pediat. 62: 881-889, 1963.
[0028008]18596.Singh, J.; DiFerrante, N. M.; Niebes, P.; Tavella, D.: N-acetylgalactosamine-6-sulfate sulfatase in man: absence of the enzyme in Morquio disease. J. Clin. Invest. 57: 1036-1040, 1976.
[0028009]18597.Sukegawa, K.; Nakamura, H.; Kato, Z.; Tomatsu, S.; Montano, A. M.; Fukao, T.; Toietta, G.; Tortora, P.; Orii, T.; Kondo, N.: Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes. Hum. Molec. Genet. 9: 1283-1290, 2000.
[0028010]18598.Tomatsu, S.; Fukuda, S.; Cooper, A.; Wraith, J. E.; Ferreira, P.; Di Natale, P.; Tortora, P.; Fujimoto, A.; Kato, Z.; Yamada, N.; Isogai, K.; Yamagishi, A.; Sukegawa, K.; Suzuki, Y.; Shimozawa, N.; Kondo, N.; Sly, W. S.; Orii, T.: Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene. Hum. Mutat. 10: 368-375, 1997.
[0028011]18599.Tomatsu, S.; Fukuda, S.; Cooper, A.; Wraith, J. E.; Rezvi, G. M. M.; Yamagishi, A.; Yamada, N.; Kato, Z.; Isogai, K.; Sukegawa, K.; Kondo, N.; Suzuki, Y.; Shimozawa, N.; Orii, T.: Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the Nacetylgalactosamine-6-sulfate sulfatase gene. Am. J. Hum. Genet. 57: 556-563, 1995.
[0028012]18600.Tomatsu, S.; Fukuda, S.; Cooper, A.; Wraith, J. E.; Yamada, N.; Isogai, K.; Kato, Z.; Sukegawa, K.; Kondo, N.; Suzuki, Y.; Shimozawa, N.; Orii, T.: Two new mutations, Q473X and N487S, in a Caucasian patient with mucopolysaccharidosis IVA (Morquio disease). Hum. Mutat. 6: 195-196, 1995.
[0028013]18601.Tomatsu, S.; Fukuda, S.; Masue, M.; Sukegawa, K.; Fukao, T.; Yamagishi, A.; Hori, T.; Iwata, H.; Ogawa, T.; Nakashima, Y.; Hanyu, Y.; Hashimoto, T.; Titani, K.; Oyama, R.; Suzuki, M.; Yagi, K.; Hayashi, Y.; Orii, T.: Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase. Biochem. Biophys. Res. Commun. 181: 677-683, 1991.
[0028014]18602.Tomatsu, S.; Fukuda, S.; Masue, M.; Sukegawa, K.; Masuno, M.; Orii, T.: Mucopolysaccharidosis type IVA: characterization and chromosomal localization of Nacetylgalactosamine-6-sulfate sulfatase gene and genetic heterogeneity. (Abstract) Am. J. Hum. Genet. 51 (suppl.): A178, 1992.
[0028015]18603.Tomatsu, S.; Fukuda, S.; Yamagishi, A.; Cooper, A.; Wraith, J. E.; Hori, T.; Kato, Z.; Yamada, N.; Isogai, K.; Sukegawa, K.; Kondo, N.; Suzuki, Y.; Shimozawa, N.; Orii, T.: Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency. Am. J. Hum. Genet. 58: 950-962, 1996.
[0028016]18604.Tylki-Szymanska, A.; Czartoryska, B.; Bunge, S.; van Diggelen, O. P.; Kleijer, W. J.; Poorthuis, B. J. H. M.; Huijmans, J. G. M.; Gorska, D.: Clinical, biochemical and molecular findings in a two-generation Morquio A family. Clin. Genet. 53: 369-374, 1998.
[0028017]18605.Von Noorden, G. K.; Zellweger, H.; Ponseti, I. V.: Ocular findings in Morquio-Ullrich's disease. Arch. Ophthal. 64: 585-591, 1960.
[0028018]18606.Wang, L.; Ou, X.; Sebesta, I.; Vondrak, K.; Krijt, J.; Elleder, M.; Poupetova, H.; Ledvinova, J.; Zeman, J.; Simmonds, H. A.; Tischfield, J. A.; Sahota, A.: Combined adenine phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency. Molec. Genet. Metab. 68: 78-85, 1999.
[0028019]18607.Wiedemann, H.-R.: The pioneers of pediatric medicine: Luis Morquio (1867-1935). Europ. J. Pediat. 151: 549, 1992.
[0028020]18608.Yamada, N.; Fukuda, S.; Tomatsu, S.; Muller, V.; Hopwood, J. J.; Nelson, J.; Kato, Z.; Yamagishi, A.; Sukegawa, K.; Kondo, N.; Orii, T.: Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype. Hum. Mutat. 11: 202-208, 1998.
[0028021]18609.Yuen, M.; Fensom, A. H.: Diagnosis of classical Morquio's disease: Nacetylgalactosamine 6-sulphate sulphatase activity in cultured fibroblasts, leukocytes, amniotic cells and chorionic villi. J. Inherit. Metab. Dis. 8: 80-86, 1985.
[0028022]18610.Zellweger, H.; Ponseti, I. V.; Pedrini, V.; Stamler, F. S.; Von Noorden, G. K.: Morquio-Ullrich's disease: report of 2 cases. J. Pediat. 59: 549-561, 1961.
[0028023]18611.Shmerling, D. H.; Prader, A.; Hitzig, W. H.; Giedion, A.; Hadorn, B.; Kuhni, M.: The syndrome of exocrine pancreatic insufficiency, neutropenia, metaphyseal dysostosis and dwarfism. Helv. Paediat. Acta 24: 547-575, 1969.
[0028024]18612.Moller, D. E.; Xia, C. H.; Tang, W.; Zhu, A. X.; Jakubowski, M. : Human rsk isoforms: cloning and characterization of tissue-specific expression. Am. J. Physiol. 266: C351-C359, 1994.
[0028025]18613.Trivier, E.; De Cesare, D.; Jacquot, S.; Pannetier, S.; Zackai, E.; Young, I.; Mandel, J.-L.; Sassone-Corsi, P.; Hanauer, A.: Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome. Nature 384: 567-570, 1996.
[0028026]18614.Zhao, Y.; Bjorbaek, C.; Weremowicz, S.; Morton, C. C.; Moller, D. E.: RSK3 encodes a novel pp90rsk isoform with a unique N-terminal sequence: growth factor-stimulated kinase function and nuclear translocation. Molec. Cell. Biol. 15: 4353-4363, 1995.
[0028027]18615.Liu, Z.; Sun, C.; Olejniczak, E. T.; Meadows, R. P.; Betz, S. F.; Oost, T.; Herrmann, J.; Wu, J. C.; Fesik, S. W.: Structural basis for binding of Smac/DIABLO to the XIAP BIR3 domain. Nature 408: 1004-1008, 2000.
[0028028]18616.Srinivasula, S. M.; Hegde, R.; Saleh, A.; Datta, P.; Shiozaki, E.; Chai, J.; Lee, R.-A.; Robbins, P. D.; Fernandes-Alnemri, T.; Shi, Y.; Alnemri, E. S.: A conserved XIAP-interaction motif in caspase-9 and Smac/DIABLO regulates caspase activity and apoptosis. Nature 410: 112-116, 2001.
[0028029]18617.Shwachman, H.; Diamond, L. K.; Oski, F. A.; Khaw, K. T.: The syndrome of pancreatic insufficiency and bone marrow dysfunction. J. Pediat. 65: 645-663, 1964.
[0028030]18618.Shwachman, H.; Holsclaw, D.: Some clinical observations on the Shwachman syndrome (pancreatic insufficiency and bone marrow hypoplasia). Birth Defects Orig. Art. Ser. 8(3): 46-49, 1972.
[0028031]18619.Smith, O. P.; Chan, M. Y.; Evans, J.; Veys, P.: Shwachman-Diamond syndrome and matched unrelated donor BMT. Bone Marrow Transplant. 16: 717-718, 1995.
[0028032]18620.Smith, O. P.; Hann, I. M.; Chessells, J. M.; Reeves, B. R.; Milla, P.: Haematological abnormalities in Shwachman-Diamond syndrome. Brit. J. Haemat. 94: 279-284, 1996.
[0028033]18621.Tada, H.; Ri, T.; Yoshida, H.; Ishimoto, K.; Kaneko, M.; Yamashiro, Y.; Shinohara, T.: A case of Shwachman syndrome with increased spontaneous chromosome breakage. Hum. Genet. 77: 289-291, 1987.
[0028034]18622.Taybi, H.; Mitchell, A. D.; Friedman, G. D.: Metaphyseal dysostosis and associated syndrome of pancreatic insufficiency and blood disorders. Radiology 93: 563-571, 1969.
[0028035]18623.Woods, W. G.; Roloff, J. S.; Lukens, J. N.; Krivit, W.: The occurrence of leukemia in patients with the Shwachman syndrome. J. Pediat. 99: 425-428, 1981.
[0028036]18624.Wulfeck, B.; Trauner, D.; Marsden, D.; Nyhan, W.; Tallal, P.: Neurobehavioral profiles in two sisters with Shwachman-Diamond syndrome. Dysmorph. Clin. Genet. 5: 15-22, 1991.
[0028037]18625.Britton, C. H.; Schultz, R. A.; Zhang, B.; Esser, V.; Foster, D. W.; McGarry, J. D.: Human liver mitochondrial carnitine palmitoyltransferase I: characterization of its cDNA and chromosomal localization and partial analysis of the gene. Proc. Nat. Acad. Sci. 92: 1984-1988, 1995.
[0028038]18626.Song, X.-Q.; Fukao, T.; Watanabe, H.; Shintaku, H.; Hirayama, K.; Kassovska-Bratinova, S.; Kondo, N.; Mitchell, G. A.: Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: two pathogenic mutations, V133E and C456F, in Japanese siblings. Hum. Mutat. 12: 83-88, 1998.
[0028039]18627.Spence, M. W.; Murphy, M. G.; Cook, H. W.; Ripley, B. A.; Embil, J. A.: Succinyl CoA:3-ketoacid CoA transferase deficiency: a 'new' phenotype? (Abstract) Pediat. Res. 7: 394 only, 1973.
[0028040]18628.Tildon, J. T.; Cornblath, M.: Succinyl-CoA: 3-ketoacid CoA-transferase deficiency. A cause for ketoacidosis in infancy. J. Clin. Invest. 51: 493-498, 1972.
[0028041]18629.Cannizzaro, L. A.; Chen, Y. Q.; Rafi, M. A.; Wenger, D. A.: Regional mapping of the human galactocerebrosidase gene (GALC) to 14q31 by in situ hybridization. Cytogenet. Cell Genet. 66: 244-245, 1994.
[0028042]18630.De Gasperi, R.; Sosa, M. A. G.; Sartorato, E. L.; Battistini, S.; MacFarlane, H.; Gusella, J. F.; Krivit, W.; Kolodny, E. H.: Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy. Am. J. Hum. Genet. 59: 1233-1242, 1996.
[0028043]18631.Duchen, L. W.; Eicher, E. M.; Jacobs, J. M.; Scaravilli, F.; Teixeira, F.: Hereditary leucodystrophy in the mouse: the new mutant twitcher. Brain 103: 695-710, 1980.
[0028044]18632.Trauner, D. A.; Page, T.; Greco, C.; Sweetman, L.; Kulovich, S.; Nyhan, W. L.: Progressive neurodegenerative disorder in a patient with nonketotic hyperglycinemia. J. Pediat. 98: 272-275, 1981.
[0028045]18633.Minassian, B. A.; Lee, J. R.; Herbrick, J.-A.; Huizenga, J.; Soder, S.; Mungall, A. J.; Dunham, I.; Gardner, R.; Fong, C. G.; Carpenter, S.; Jardim, L.; Satishchandra, P.; Andermann, E.; Snead, O. C., III; Lopes-Cendes, I.; Tsui, L.-C.; Delgado-Escueta, A. V.; Rouleau, G. A.; Scherer, S. W.: Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy. Nature Genet. 20: 171-174, 1998.
[0028046]18634.Berger, R.; Smit, G. P. A.; Schierbeek, H.; Bijsterveld, K.; le Coultre, R.: Mevalonic aciduria: an inborn error of cholesterol biosynthesis? Clin. Chim. Acta 152: 219-222, 1985.
[0028047]18635.Cuisset, L.; Drenth, J. P. H.; Simon, A.; Vincent, M. F.; van der Velde Visser, S.; van der Meer, J. W. M.; Grateau, G.; Delpech, M.; International Hyper-IgD Study Group: Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome. Europ. J. Hum. Genet. 9: 260-266, 2001.
[0028048]18636.Drenth, J. P. H.; Cuisset, L.; Grateau, G.; Vasseur, C.; van de Velde-Visser, S. D.; de Jong, J. G. N.; Beckmann, J. S.; van der Meer, J. W. M.; Delpech, M.; International Hyper-IgD Study Group: Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. Nature Genet. 22: 178-181, 1999.
[0028049]18637.Drenth, J. P. H.; Haagsma, C. J.; van der Meer, J. W. M.; International Hyper-IgD Study Group: Hyperimmunoglobulinemia D and periodic fever syndrome: the clinical spectrum in a series of 50 patients. Medicine 73: 133-144, 1994.
[0028050]18638.Gibson, K. M.; Hoffmann, G.; Nyhan, W. L.; Sweetman, L.; Berger, R.; le Coultre, R.; Smit, G. P. A.: Mevalonate kinase deficiency in a child with cerebellar ataxia hypotonia and mevalonic aciduria. Europ. J. Pediat. 148: 250-252, 1988.
[0028051]18639.Gibson, K. M.; Hoffmann, G.; Nyhan, W. L.; Sweetman, L.; Brandt, I. K.; Wappner, R. S.; Bader, P. I.: Mevalonic aciduria: family studies in mevalonate kinase deficiency, an inborn error of cholesterol biosynthesis. J. Inherit. Metab. Dis. 10 (suppl. 2): 282-285, 1987.
[0028052]18640.Gibson, K. M.; Hoffmann, G. F.; Tanaka, R. D.; Bishop, R. W.; Chambliss, K. L.: Mevalonate kinase map position 12q24. Chromosome Res. 5: 150 only, 1997.
[0028053]18641.Hinson, D. D.; Rogers, Z. R.; Hoffmann, G. F.; Schachtele, M.; Fingerhut, R.; Kohlschutter, A.; Kelley, R. I.; Gibson, K. M.: Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency. Am. J. Med. Genet. 78: 408-412, 1998.
[0028054]18642.Hinson, D. D.; Ross, R. M.; Krisans, S.; Shaw, J. L.; Kozich, V.; Rolland, M.-O.; Divry, P.; Mancini, J.; Hoffmann, G. F.; Gibson, K. M.: Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry. Am. J. Hum. Genet. 65: 327-335, 1999.
[0028055]18643.Hoffmann, G.; Gibson, K. M.; Brandt, I. K.; Bader, P. I.; Wappner, R. S.; Sweetman, L.: Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis. New Eng. J. Med. 314: 1610-1614, 1986.
[0028056]18644.Hoffmann, G. F.; Charpentier, C.; Mayatepek, E.; Mancini, J.; Leichsenring, M.; Gibson, K. M.; Divry, P.; Hrebicek, M.; Lehnert, W.; Sartor, K.; Trefz, F. K.; Rating, D.; Bremer, H. J.; Nyhan, W. L.: Clinical and biochemical phenotype in 11 patients with mevalonic aciduria. Pediatrics 91: 915-921, 1993.
[0028057]18645.Houten, S. M; Koster, J.; Romeijn, G.-J.; Frenkel, J.; Di Rocco, M.; Caruso, U.; Landrieu, P.; Kelley, R. I.; Kuis, W.; Poll-The, B. T.; Gibson, K. M.; Wanders, R. J. A.; Waterham, H. R.: Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome. Europ. J. Hum. Genet. 9: 253-259, 2001. Note: Erratum: Europ. J. Med. Genet. 9: 651 only, 2001.
[0028058]18646.Krisans, S. K.; Ericsson, J.; Edwards, P. A.; Keller, G. A.: Farnesyl-diphosphate synthase is localized in peroxisomes. J. Biol. Chem. 269: 14165-14169, 1994.
[0028059]18647.Mancini, J.; Philip, N.; Chabrol, B.; Divry, P.; Rolland, M.-O.; Pinsard, N.: Mevalonic aciduria in 3 siblings: a new recognizable metabolic encephalopathy. Pediat. Neurol. 9: 243-246, 1993.
[0028060]18648.Schafer, B. L.; Bishop, R. W.; Kratunis, V. J.; Kalinowski, S. S.; Mosley, S. T.; Gibson, K. M.; Tanaka, R. D.: Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria. J. Biol. Chem. 267: 13229-13238, 1992.
[0028061]18649.van der Meer, J. W. M.; Vossen, J. M.; Radl, J.; van Nieuwkoop, J. A.; Meyer, C. J. L. M.; Lobatto, S.; van Furth, R.: Hyperimmunoglobulinaemia D and periodic fever: a new syndrome. Lancet I: 1087-1090, 1984.
[0028062]18650.Houten, S. M.; Kuis, W.; Duran, M.; de Koning, T. J.; van Royen-Kerkhof, A.; Romeijn, G. J.; Frenkel, J.; Dorland, L.; de Barse, M. M. J.; Huijbers, W. A. R.; Rijkers, G. T.; Waterham, H. R.; Wanders, R. J. A.; Poll-The, B. T.: Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. Nature Genet. 22: 175-177, 1999.
[0028063]18651.Houten, S. M.; Romeijn, G. J.; Koster, J.; Gray, R. G. F.; Darbyshire, P.; Smit, G. P. A.; de Klerk, J. B. C.; Duran, M.; Gibson, K. M.; Wanders, R. J. A.; Waterham, H. R.: Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis. Hum. Molec. Genet. 8: 1523-1528, 1999.
[0028064]18652.Norio, R.; Koskiniemi, M.: Progressive myoclonus epilepsy: genetic and nosological aspects with special reference to 107 Finnish patients. Clin. Genet. 15: 382-398, 1979.
[0028065]18653.Ortiz-Hidalgo, C.: The man behind Lafora's bodies. Am. J. Surg. Path. 10: 358-361, 1986.
[0028066]18654.Sainz, J.; Minassian, B. A.; Serratosa, J. M.; Gee, M. N.; Sakamoto, L. M.; Iranmanesh, R.; Bohlega, S.; Baumann, R. J.; Ryan, S.; Sparkes, R. S.; Delgado-Escueta, A. V.: Lafora progressive myoclonus epilepsy: narrowing the chromosome 6q24 locus by recombinations and homozygosities. (Letter) Am. J. Hum. Genet. 61: 1205-1209, 1997.
[0028067]18655.Sarlin, M. B.; Kloepfer, H. W.; Mickle, W. A.; Heath, R. G.: The detection of carriers in hereditary myoclonic epilepsy. Acta Genet. Med. Gemellol. 9: 466-471, 1960.
[0028068]18656.Schwarz, G. A.; Yanoff, M.: Lafora's disease, distinct clinico-pathologic form of Unverricht's syndrome. Arch. Neurol. 12: 172-188, 1965.
[0028069]18657.Serratosa, J. M.; Delgado-Escueta, A. V.; Posada, I.; Shih, S.; Drury, I.; Berciano, J.; Zabala, J. A.; Antunez, M. C.; Sparkes, R. S.: The gene for progressive myoclonus epilepsy of the Lafora type maps to chromosome 6q. Hum. Molec. Genet. 4: 1657-1663, 1995.
[0028070]18658.Serratosa, J. M.; Gomez-Garre, P.; Gallardo, M. E.; Anta, B.; Beltran-Valero de Bernabe, D.; Lindhout, D.; Augustijn, P. B.; Tassinari, C. A.; Michelucci, R.; Malafosse, A.; Topcu, M.; Grid, D.; Dravet, C.; Berkovic, S. F.; Rodriguez de Cordoba, S.: A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2). Hum. Molec. Genet. 8: 345-352, 1999.
[0028071]18659.Yanoff, M.; Schwarz, G. A.: Lafora's disease: a distinct genetically determined form of Unverricht's syndrome. Genet. Hum. 14: 235-244, 1965.
[0028072]18660.Yokoi, S.; Austin, J.; Witmer, F.; Sakai, M.: Studies in myoclonus epilepsy (Lafora body forms). I. Isolation and preliminary characterization of Lafora bodies in two cases. Arch. Neurol. 19: 15-33, 1968.
[0028073]18661.Mowat, D. R.; Croaker, G. D. H.; Cass, D. T.; Kerr, B. A.; Chaitow, J.; Ades, L. C.; Chia, N. L.; Wilson, M. J.: Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23. J. Med. Genet. 35: 617-623, 1998.
[0028074]18662.Wakamatsu, N.; Yamada, Y.; Yamada, K.; Ono, T.; Nomura, N.; Taniguchi, H.; Kitoh, H.; Mutoh, N.; Yamanaka, T.; Mushiake, K.; Kato, K.; Sonta, S.; Nagaya, M.: Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease. Nature Genet. 27: 369-370, 2001.
[0028075]18663.Zweier, C.; Albrecht, B.; Mitulla, B.; Behrens, R.; Beese, M.; Gillessen-Kaesbach, G.; Rott, H.-D.; Rauch, A.: 'Mowat-Wilson' syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene. Am. J. Med. Genet. 108: 177-181, 2002.
[0028076]18664.Yamada, K.; Yamada, Y.; Nomura, N.; Miura, K.; Wakako, R.; Hayakawa, C.; Matsumoto, A.; Kumagai, T.; Yoshimura, I.; Miyazaki, S.; Kato, K.; Sonta, S.; Ono, H.; Yamanaka, T.; Nagaya, M.; Wakamatsu, N.: Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features. Am. J. Hum. Genet. 69: 1178-1185, 2001.
[0028077]18665.Alm, J.; Holmgren, G.; Larsson, A.; Schimpfessel, L.: Histidinaemia in Sweden: report on a neonatal screening programme. Clin. Genet. 20: 229-233, 1981.
[0028078]18666.Anakura, M.; Matsuda, I.; Arashima, S.; Fukushima, N.; Oka, Y. : Histidinemia--classical and atypical form in siblings. Am. J. Dis. Child. 129: 858-861, 1975.
[0028079]18667.Auerbach, V. H.; DiGeorge, A. M.; Baldridge, R. C.; Tourtellotte, C. D.; Brigham, M. P.: Histidinemia: a deficiency in histidase resulting in the urinary excretion of histidine and of imidazolepyruvic acid. J. Pediat. 60: 487-497, 1962.
[0028080]18668.Bruckman, C.; Berry, H. K.; Dasenbrock, R. J.: Histidinemia in two successive generations. Am. J. Dis. Child. 119: 221-227, 1970.
[0028081]18669.Coulombe, J. T.; Kammerer, B. L.; Levy, H. L.; Hirsch, B. Z.; Scriver, C. R.: Histidinaemia. Part III: Impact; a prospective study. J. Inherit. Metab. Dis. 6: 58-61, 1983.
[0028082]18670.Kacser, H. K.; Bulfield, G.; Wallace, M. E.: Histidinaemia mutant in the mouse. Nature 244: 77-79, 1973.
[0028083]18671.Kappelman, M.; Thomas, G. H.; Howell, R. R.: Histidinemia in a Negro child. Am. J. Dis. Child. 122: 212-214, 1971.
[0028084]18672.La Du, B. N.: Histidinemia: current status. Am. J. Dis. Child. 113: 88-92, 1967.
[0028085]18673.La Du, B. N.: Histidinemia.In: Stanbury, J. B.; Wyngaarden, J. B.; Fredrickson, D. S.: Metabolic Basis of Inherited Disease. New York: McGraw-Hill (pub.) (4th ed.): 1978. Pp. 317-327.
[0028086]18674.La Du, B. N.; Howell, R. R.; Jacoby, G. A.; Seegmiller, J. E.; Sober, E. K.; Zannoni, V. G.; Canby, J. P.; Ziegler, L. K.: Clinical and biochemical studies on two cases of histidinemia. Pediatrics 32: 216-227, 1963.
[0028087]18675.Lam, W. K.; Cleary, M. A.; Wraith, J. E.; Walter, J. H.: Histidinaemia: a benign metabolic disorder. Arch. Dis. Child. 74: 343-346, 1996.
[0028088]18676.Lemieux, B.; Auray-Blais, C.; Giguere, R.; Shapcott, D.; Scriver, C. R.: Newborn urine screening experience with over one million infants in the Quebec network of genetic medicine. J. Inherit. Metab. Dis. 11: 45-55, 1988.
[0028089]18677.Levy, H. L.; Shin, V. E.; Madigan, P. M.: Routine newborn screening for histidinemia: clinical and biochemical results. New Eng. J. Med. 291: 1214-1219, 1974.
[0028090]18678.Neville, B. G. R.; Bentovim, A.; Clayton, B. E.; Sheperd, J.: Histidinaemia: study of relation between clinical and biological findings in 7 subjects. Arch. Dis. Child. 47: 190-200, 1972.
[0028091]18679.Neville, B. G. R.; Harris, R. F.; Stern, D. J.; Stern, J.: Maternal histidinaemia. Arch. Dis. Child. 46: 119-121, 1971.
[0028092]18680.Popkin, J. S.; Clow, C. L.; Scriver, C. R.; Grove, J.: Is hereditary histidinemia harmful? Lancet I: 721-722, 1974.
[0028093]18681.Rosenblatt, D. S.; Mohyuddin, F.; Scriver, C. R.: Histidinemia discovered by urine screening after renal transplantation. Pediatrics 46: 47-53, 1970.
[0028094]18682.Barton, R. W.; Neufeld, E. F.: A distinct biochemical deficit in the Maroteaux-Lamy syndrome (mucopolysaccharidosis VI). J. Pediat. 80: 114-116, 1972.
[0028095]18683.Hechtman, P.; Boulay, B.; De Braekeleer, M.; Andermann, E.; Melancon, S.; Larochelle, J.; Prevost, C.; Kaplan, F.: The intron 7 donor splice site transition: a second Tay-Sachs disease mutation in French Canada. Hum. Genet. 90: 402-406, 1992.
[0028096]18684.Hechtman, P.; Kaplan, F.; Bayleran, J.; Boulay, B.; Andermann, E.; de Braekeleer, M.; Melancon, S.; Lambert, M.; Potier, M.; Gagne, R.; Kolodny, E.; Clow, C.; Capua, A.; Prevost, C.; Scriver, C.: More than one mutant allele causes infantile Tay-Sachs disease in French-Canadians. Am. J. Hum. Genet. 47: 815-822, 1990.
[0028097]18685.Hellkuhl, B.; Mayr, W. R.; Grzeschik, K.-H.: Localization of MPI, PK-M2, IDH-M, and the alpha subunit of hexosaminidase (HEX-A) to the q21-qter region of human chromosome 15. Cytogenet. Cell Genet. 22: 503-505, 1978.
[0028098]18686.Hou, Y.; Vavougios, G.; Hinek, A.; Wu, K. K.; Hechtman, P.; Kaplan, F.; Mahuran, D. J.: The val192-to-leu mutation in the alpha-subunit of beta-hexosaminidase A is not associated with the B1-variant form of Tay-Sachs disease. Am. J. Hum. Genet. 59: 52-58, 1996.
[0028099]18687.Kappler, J.; Gieselmann, V.; Propping, P.: Hexosaminidase--pseudodeficiency?. (Letter) Am. J. Hum. Genet. 47: 880-881, 1990.
[0028100]18688.Keats, B. J. B.; Elston, R. C.; Andermann, E.: Pedigree discriminant analysis of two French Canadian Tay-Sachs families. Genet. Epidemiol. 4: 77-85, 1987.
[0028101]18689.Kelly, T. E.; Chase, G. A.; Kaback, M. M.; Kumor, K.; McKusick, V. A.: Tay-Sachs disease: high gene frequency in a non-Jewish population. Am. J. Hum. Genet. 27: 287-291, 1975.
[0028102]18690.Kelly, T. E.; Reynolds, L. W.; O'Brien, J. S.: Segregation within a family to two mutant alleles for hexosaminidase A. Clin. Genet. 9: 540-543, 1976.
[0028103]18691.Lalley, P. A.; Rattazzi, M. C.; Shows, T. B.: Human beta-D-N-acetylhexosaminidases A and B: expression and linkage relationships in somatic cell hybrids. Proc. Nat. Acad. Sci. 71: 1569-1573, 1975.
[0028104]18692.Korneluk, R. G.; Mahuran, D. J.; Neote, K.; Klavins, M. H.; O'Dowd, B. F.; Tropak, M.; Willard, H. F.; Anderson, M.-J.; Lowden, J. A.; Gravel, R. A.: Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase: extensive homology between the alpha- and betasubunits and studies on Tay-Sachs disease. J. Biol. Chem. 261: 8407-8413, 1986.
[0028105]18693.Landels, E. C.; Green, P. M.; Ellis, I. H.; Fensom, A. H.; Bobrow, M.: Betahexosaminidase splice site mutation has a high frequency among non-Jewish Tay-Sachs disease carriers from the British Isles. J. Med. Genet. 29: 563-567, 1992.
[0028106]18694.Landels, E. C.; Green, P. M.; Ellis, I. H.; Fensom, A. H.; Kaback, M. M.; Lim-Steele, J.; Zeiger, K.; Levy, N.; Bobrow, M.: Further investigation of the HEXA gene intron 9 donor splice site mutation frequently found in non-Jewish Tay-Sachs disease patients from the British Isles. J. Med. Genet. 30: 479-481, 1993.
[0028107]18695.Lau, M. M. H.; Neufeld, E. F.: A frameshift mutation in a patient with Tay-Sachs disease causes premature termination and defective intracellular transport of the alpha-subunit of betahexosaminidase. J. Biol. Chem. 264: 21376-21380, 1989.
[0028108]18696.McDowell, G. A.; Mules, E. H.; Fabacher, P.; Shapira, E.; Blitzer, M. G.: The presence of two different infantile Tay-Sachs disease mutations in a Cajun population. Am. J. Hum. Genet. 51: 1071-1077, 1992.
[0028109]18697.Lyerla, T. A.; Konola, J. T.; Skiba, M. C.; Raghavan, S.: Galactocerebrosidase activity in somatic cell hybrids derived from twitcher mouse/control human fibroblasts is associated with human chromosome 17. Am. J. Hum. Genet. 44: 198-207, 1989.
[0028110]18698.Sakai, N.; Inui, K.; Fujii, N.; Fukushima, H.; Nishimoto, J.; Yanagihara, I.; Isegawa, Y.; Iwamatsu, A.; Okada, S.: Krabbe disease: isolation and characterization of a full-length cDNA for human galactocerebrosidase. Biochem. Biophys. Res. Commun. 198: 485-491, 1994.
[0028111]18699.Sweet, H.: Twitcher (twi) is on chromosome 12. Mouse Newsletter 75: 30, 1986.
[0028112]18700.Black, S. H.; Pelias, M. Z.; Miller, J. B.; Blitzer, M. G.; Shapira, E.: Maroteaux-Lamy syndrome in a large consanguineous kindred: biochemical and immunological studies. Am. J. Med. Genet. 25: 273-279, 1986.
[0028113]18701.Brooks, D. A.; McCourt, P. A. G.; Gibson, G. J.; Ashton, L. J.; Shutter, M.; Hopwood, J. J.: Analysis of N-acetylgalactosamine-4-sulfatase protein and kinetics in mucopolysaccharidosis type VI patients. Am. J. Hum. Genet. 48: 710-719, 1991.
[0028114]18702.Brooks, D. A.; McCourt, P. A. G.; Gibson, G. J.; Hopwood, J. J. : Immunoquantification of the low abundance lysosomal enzyme N-acetylgalactosamine 4-sulphatase. J. Inherit. Metab. Dis. 13: 108-120, 1990.
[0028115]18703.Cantor, L. B.; Disseler, J. A.; Wilson, F. M., II: Glaucoma in the Maroteaux-Lamy syndrome. Am. J. Ophthal. 108: 426-430, 1989.
[0028116]18704.Crawley, A. C.; Brooks, D. A.; Muller, V. J.; Petersen, B. A.; Isaac, E. L.; Bielicki, J.; King, B. M.; Boulter, C. D.; Moore, A. J.; Fazzalari, N. L.; Anson, D. S.; Byers, S.; Hopwood, J. J.: Enzyme replacement therapy in a feline model of Maroteaux-Lamy syndrome. J. Clin. Invest. 97: 1864-1873, 1996.
[0028117]18705.Crawley, A. C.; Niedzielski, K. H.; Isaac, E. L.; Davey, R. C. A.; Byers, S.; Hopwood, J. J.: Enzyme replacement therapy from birth in a feline model of mucopolysaccharidosis type VI. J. Clin. Invest. 99: 651-662, 1997.
[0028118]18706.Crawley, A. C.; Yogalingam, G.; Muller, V. J.; Hopwood, J. J.: Two mutations within a feline mucopolysaccharidosis type VI colony cause three different clinical phenotypes. J. Clin. Invest. 101: 109-119, 1998.
[0028119]18707.DeLuca, C.; Brown, J. A.; Shows, T. B.: Lysosomal arylsulfatase deficiencies in humans: chromosome assignment for arylsulfatase A and B. Proc. Nat. Acad. Sci. 76: 1957-1961, 1979.
[0028120]18708.DiFerrante, N. M.; Hyman, B. H.; Kish, W.; Donnelly, P. V.; Nichols, B. L., Jr.; Dutton, R. V.: Mucopolysaccharidosis VI (Maroteaux-Lamy disease) clinical and biochemical study of a mild variant case. Johns Hopkins Med. J. 135: 42-53, 1974.
[0028121]18709.Dudin, G.; Alexander, D.; Talj, F.; Deeb, M.; Musallam, S.; Der Kaloustian, V. M.: Interstitial deletion of band q12 of chromosome 5. Clin. Genet. 25: 455-458, 1984.
[0028122]18710.Evers, M.; Saftig, P.; Schmidt, P.; Hafner, A.; McLoghlin, D. B.; Schmahl, W.; Hess, B.; von Figura, K.; Peters, C.: Targeted disruption of the arylsulfatase B gene results in mice resembling the phenotype of mucopolysaccharidosis VI. Proc. Nat. Acad. Sci. 93: 8214-8219, 1996.
[0028123]18711.Fidzianska, E.; Abramowicz, T.; Czartoryska, B.; Glogowska, I.; Gorska, D.; Mazurozak, T.; Rodo, M.; Wehr, H.; Witkowska, J.: Localization of the human arylsulfatase B gene locus to chromosome 5 by use of hamster-man somatic cell hybrids.(Abstract) 7th Int. Cong. Hum. Genet., Berlin 611-612, 1986.
[0028124]18712.Fidzianska, E.; Abramowicz, T.; Czartoryska, B.; Glogowska, I.; Gorska, D.; Rodo, M.: Assignment of the gene for human arylsulfatase B, ARSB, to chromosome region 5p11-5qter. Cytogenet. Cell Genet. 38: 150-151, 1984.
[0028125]18713.Fox, M. F.; DuToit, D. L.; Warnich, L.; Retief, A. E.: Regional localization of alphagalactosidase (GLA) to Xpter-q22, hexosaminidase B (HEXB) to 5q13-qter, and arylsulfatase B (ARSB) to 5pter-q13. Cytogenet. Cell Genet. 38: 45-49, 1984.
[0028126]18714.Gitzelmann, R.: Personal Communication. Zurich, Switzerland 4/27/1990.
[0028127]18715.Goldberg, M. F.; Scott, C. I., Jr.; McKusick, V. A.: Hydrocephalus and papilledema in the Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). Am. J. Ophthal. 69: 969-975, 1970.
[0028128]18716.Haskins, M. E.; Jezyk, P. F.; Patterson, D. F.: Mucopolysaccharide storage disease in three families of cats with arylsulfatase B deficiency: leukocyte studies and carrier identification. Pediat. Res. 13: 1203-1210, 1979.
[0028129]18717.Hellkuhl, B.; Grzeschik, K.-H.: Assignment of a gene for arylsulfatase B to human chromosome 5 (EC 3.1.6.1) using human-mouse somatic cell hybrids. Cytogenet. Cell Genet. 22: 203-206, 1978.
[0028130]18718.Hopwood, J. J.: Personal Communication. North Adelaide, South Australia 5/9/1991.
[0028131]18719.Isbrandt, D.; Hopwood, J. J.; von Figura, K.; Peters, C.: Two novel frameshift mutations causing premature stop codons in a patient with the severe form of Maroteaux-Lamy syndrome. Hum. Mutat. 7: 361-363, 1996.
[0028132]18720.Jezyk, P. F.; Haskins, M. E.; Patterson, D. F.; Mellman, W. J.; Greenstein, M.: Mucopolysaccharidosis in a cat with arylsulfatase B deficiency: a model of Maroteaux-Lamy syndrome. Science 198: 834-836, 1977.
[0028133]18721.Jin, W.-D.; Jackson, C. E.; Desnick, R. J.; Schuchman, E. H.: Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity. Am. J. Hum. Genet. 50: 795-800, 1992.
[0028134]18722.Krivit, W.; Pierpont, M. E.; Ayaz, K.; Tsai, M.; Ramsay, N. K. C.; Kersey, J. H.; Weisdorf, S.; Sibley, R.; Snover, D.; McGovern, M. M.; Schwartz, M. F.; Desnick, R. J.: Bone-marrow transplantation in the Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI): biochemical and clinical status 24 months after transplantation. New Eng. J. Med. 311: 1606-1611, 1984.
[0028135]18723.Kunieda, T.; Simonaro, C. M.; Yoshida, M.; Ikadai, H.; Levan, G.; Desnick, R. J.; Schuchman, E. H.: Mucopolysaccharidosis type VI in rats: isolation of cDNAs encoding arylsulfatase B, chromosomal localization of the gene, and identification of the mutation. Genomics 29: 582-587, 1995.
[0028136]18724.Levy, L. A.; Lewis, J. C.; Sumner, T. E.: Ultrastructures of Reilly bodies (metachromatic granules) in the Maroteaux-Lamy syndrome (mucopolysaccharidosis VI): a histochemical study. Am. J. Clin. Path. 73: 416-422, 1980.
[0028137]18725.Litjens, T.; Baker, E. G.; Beckmann, K. R.; Morris, C. P.; Hopwood, J. J.; Callen, D. F.: Chromosomal localization of ARSB, the gene for human N-acetylgalactosamine-4-sulphatase. Hum. Genet. 82: 67-68, 1989.
[0028138]18726.Litjens, T.; Brooks, D. A.; Peters, C.; Gibson, G. J.; Hopwood, J. J.: Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients. Am. J. Hum. Genet. 58: 1127-1134, 1996.
[0028139]18727.Litjens, T.; Hopwood, J. J.: Mucopolysaccharidosis type VI: structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase. Hum. Mutat. 18: 282-295, 2001.
[0028140]18728.Litjens, T.; Morris, C. P.; Robertson, E. F.; Peters, C.; von Figura, K.; Hopwood, J. J.: An N-acetylgalactosamine-4-sulfatase mutation (delta-G-238) results in a severe Maroteaux-Lamy phenotype. Hum. Mutat. 1: 397-402, 1992.
[0028141]18729.Taroni, F.; Verderio, E.; Dworzak, F.; Willems, P. J.; Cavadini, P.; DiDonato, S.: Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients. Nature Genet. 4: 314-320, 1993.
[0028142]18730.Gellera, C.; Verderio, E.; Floridia, G.; Finocchiaro, G.; Montermini, L.; Cavadini, P.; Zuffardi, O.; Taroni, F.: Assignment of the human carnitine palmitoyltransferase II gene (CTP1) to chromosome 1p32. Genomics 24: 195-197, 1994.
[0028143]18731.Agmon, D.; Green, J.; Platau, E.; Better, O. S.: Isolated adrenal mineralocorticoid deficiency due to amyloidosis associated with familial Mediterranean fever. Am. J. Med. Sci. 288: 40-43, 1984.
[0028144]18732.Akarsu, A. N.; Saatci, U.; Ozen, S.; Bakkaloglu, A.; Besbas, N.; Sarfarazi, M.: Genetic linkage study of familial Mediterranean fever (FMF) to 16p13.3 and evidence for genetic heterogeneity in the Turkish population. J. Med. Genet. 34: 573-578, 1997.
[0028145]18733.Lukong, K. E.; Elsliger, M.-A.; Chang, Y.; Richard, C.; Thomas, G.; Carey, W.; Tylki-Szymanska, A.; Czartoryska, B.; Buchholz, T.; Rodriguez Criado, G.; Palmeri, S.; Pshezhetsky, A. V.: Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex. Hum. Molec. Genet. 9: 1075-1085, 2000.
[0028146]18734.Fernandes, M.; Poirier, C.; Lespinasse, F.; Carle, G. F.: The mouse homologs of human GIF, DDB1, and CFL1 genes are located on chromosome 19. Mammalian Genome 9: 339-342, 1998.
[0028147]18735.Aminoff, M.; Carter, J. E.; Chadwick, R. B.; Johnson, C.; Grasbeck, R.; Abdelaal, M. A.; Broch, H.; Jenner, L. B.; Verroust, P. J.; Moestrup, S. K.; de la Chapelle, A.; Krahe, R.: Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1. Nature Genet. 21: 309-313, 1999.
[0028148]18736.Aminoff, M.; Tahvanainen, E.; Grasbeck, R.; Weissenbach, J.; Broch, H.; de la Chapelle, A.: Selective intestinal malabsorption of vitamin B12 displays recessive mendelian inheritance: assignment of a locus to chromosome 10 by linkage. Am. J. Hum. Genet. 57: 824-831, 1995.
[0028149]18737.Kozyraki, R.; Kristiansen, M.; Silahtaroglu, A.; Hansen, C.; Jacobsen, C.; Tommerup, N.; Verroust, P. J.; Moestrup, S. K.: The human intrinsic factor-vitamin B12 receptor, cubilin: molecular characterization and chromosomal mapping of the gene to 10p within the autosomal recessive megaloblastic anemia (MGA1) region. Blood 91: 3593-3600, 1998.
[0028150]18738.Carney, J. P.; Maser, R. S.; Olivares, H.; Davis, E. M.; Le Beau, M.; Yates, J. R., III; Hays, L.; Morgan, W. F.; Petrini, J. H. J. : The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response. Cell 93: 477-486, 1998.
[0028151]18739.Matsuo, T.; Egawa, I.; Okada, S.; Suetsugu, M.; Yamamoto, K.; Watanabe, M.: Sialidosis type 2 in Japan: clinical study in two siblings' cases and review of literature. J. Neurol. Sci. 58: 45-55, 1983.
[0028152]18740.Miyatake, T.; Atsumi, T.; Obayashi, T.; Mizuno, Y.; Ando, S.; Ariga, T.; Matsui-Nakamura, K.; Yamada, T.: Adult type neuronal storage disease with neuraminidase deficiency. Ann. Neurol. 6: 232-243, 1979.
[0028153]18741.Mueller, O. T.; Henry, W. M.; Haley, L. L.; Byers, M. G.; Eddy, R. L.; Shows, T. B.: Sialidosis and galactosialidosis: chromosomal assignment of two genes associated with neuraminidase deficiency disorders. Proc. Nat. Acad. Sci. 83: 1817-1821, 1986.
[0028154]18742.Naganawa, Y.; Itoh, K.; Shimmoto, M.; Takiguchi, K.; Doi, H.; Nishizawa, Y.; Kobayashi, T.; Kamei, S.; Lukong, K. E.; Pshezhetsky, A. V.; Sakuraba, H.: Molecular and structural studies of Japanese patients with sialidosis type 1. J. Hum. Genet. 45: 241-249, 2000.
[0028155]18743.Nakamura, Y.; Takahashi, Y.; Yamaguchi, S.; Omiya, S.; Orii, T.; Yara, A.; Gushiken, M.: Severe infantile sialidosis--the characteristics of oligosaccharides isolated from the urine and the abdominal ascites. Tohoku J. Exp. Med. 166: 407-415, 1992.
[0028156]18744.O'Brien, J. S.: Neuraminidase deficiency in the cherry red spot-myoclonus syndrome. Biochem. Biophys. Res. Commun. 79: 1136-1141, 1977.
[0028157]18745.O'Brien, J. S.: The cherry red spot-myoclonus syndrome: a newly recognized inherited lysosomal storage disease due to acid neuraminidase deficiency. Clin. Genet. 14: 55-60, 1978.
[0028158]18746.O'Brien, J. S.; Warner, T. G.: Sialidosis: delineation of subtypes by neuraminidase assay. Clin. Genet. 17: 35-38, 1980.
[0028159]18747.Oohira, T.; Nagata, N.; Akaboshi, I.; Matsuda, I.; Naito, S.: The infantile form of sialidosis type II associated with congenital adrenal hyperplasia: possible linkage between HLA and the neuraminidase deficiency gene. Hum. Genet. 70: 341-343, 1985.
[0028160]18748.Oohira, T.; Yoshida, M. C.; Matsuda, I.: Additional evidence for the location of the alpha-neuraminidase gene on chromosome 6. Jpn. J. Hum. Genet. 31: 309-310, 1986.
[0028161]18749.Orii, T.; Minami, R.; Sukegawa, K.; Sato, S.; Tsugawa, S.; Horino, K.; Miura, R.; Nakao, T.: A new type of mucolipidosis with beta-galactosidase deficiency and glycopeptiduria. Tohoku J. Exp. Med. 107: 303-315, 1972.
[0028162]18750.Paschke, E.; Trinkl, G.; Erwa, W.; Pavelka, M.; Mutz, I.; Roscher, A.: Infantile type of sialic acid storage disease with sialuria. Clin. Genet. 29: 417-424, 1986.
[0028163]18751.Peters, J.; Swallow, D. M.; Andrews, S. J.; Evans, L.: A gene (Neu-1) on chromosome 17 of the mouse affects acid alpha-glucosidase and codes for neuraminidase. Genet. Res. Camb. 38: 47-55, 1981.
[0028164]18752.Pincus, J. H.; Rossi, J. P.; Daroff, R. B.: Delayed development of disturbed mucopolysaccharide metabolism in a Hurler variant. Arch. Neurol. 16: 244-253, 1967.
[0028165]18753.Potier, M.; Beauregard, G.; Gelisle, M.; Mameli, L.; Hong, V. N.; Melancon, S. B.; Dallaire, L.: Neuraminidase activity in the mucolipidoses (types I, II and III) and the cherry-red spot myoclonus syndrome. Clin. Chim. Acta 99: 97-105, 1979.
[0028166]18754.Pshezhetsky, A. V.; Richard, C.; Michaud, L.; Igdoura, S.; Wang, S.; Elsliger, M.-A.; Qu, J.; Leclerc, D.; Gravel, R.; Dallaire, L.; Potier, M.: Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis. Nature Genet. 15: 316-320, 1997.
[0028167]18755.Rottier, R. J.; Bonten, E.; d'Azzo, A.: A point mutation in the neu-1 locus causes the neuraminidase defect in the SM/J mouse. Hum. Molec. Genet. 7: 313-321, 1998.
[0028168]18756.Sanfilippo, S. J.; Yunis, J. J.; Worthen, H. G.: An unusual storage disease resembling the Hurler-Hunter syndrome. (Abstract) Am. J. Dis. Child. 104: 553 only, 1962.
[0028169]18757.Sasagasako, N.; Miyahara, S.; Saito, N.; Shinnoh, N.; Kobayashi, T.; Goto, I.: Prenatal diagnosis of congenital sialidosis. Clin. Genet. 44: 8-11, 1993.
[0028170]18758.Sergi, C.; Penzel, R.; Uhl, J.; Zoubaa, S.; Dietrich, H.; Decker, N.; Rieger, P.; Kopitz, J.; Otto, H. F.; Kiessling, M.; Cantz, M. : Prenatal diagnosis and fetal pathology in a Turkish family harboring a novel nonsense mutation in the lysosomal alpha-N-acetyl-neuraminidase (sialidase) gene. Hum. Genet. 109: 421-428, 2001.
[0028171]18759.Shows, T. B.: Personal Communication. Buffalo, N. Y. 10/9/1985.
[0028172]18760.Spranger, J.: Advances in bone dysplasias. (Abstract) Sixth Int. Cong. Hum. Genet., Jerusalem , 1981.
[0028173]18761.Spranger, J.: Mucolipidosis I: phenotype and nosology. Perspect. Inherit. Metab. Dis. 4: 303-315, 1981.
[0028174]18762.Spranger, J.; Cantz, M.: Mucolipidosis I, the cherry red spot-myoclonus syndrome and neuraminidase deficiency. Birth Defects Orig. Art. Ser. XIV(6B): 105-112, 1978.
[0028175]18763.Spranger, J. W.: Personal Communication. Kiel, Germany 1972.
[0028176]18764.Spranger, J. W.; Gehler, J.; Cantz, M.: Mucolipidosis I--a sialidosis. Am. J. Med. Genet. 1: 21-29, 1977.
[0028177]18765.Spranger, J. W.; Wiedemann, H. R.: The genetic mucolipidoses. Diagnosis and differential diagnosis. Humangenetik 9: 113-139, 1970.
[0028178]18766.Spranger, J. W.; Wiedemann, H. R.; Tolksdorf, M.; Graucob, E.; Caesar, R.: Lipomucopolysaccharidose: eine neue Speicherkrankheit. Z. Kinderheilk. 103: 285-306, 1968.
[0028179]18767.Steinmann, L.; Tharp, B. R.; Dorfman, L. J.; Forno, L. S.; Sogg, R. L.; Kelts, K. A.; O'Brien, J. S.: Peripheral neuropathy in the cherry red spot-myoclonus syndrome (sialidosis type I). Ann. Neurol. 7: 450-456, 1980.
[0028180]18768.Stevenson, R. E.; Lubinsky, M.; Taylor, H. A.; Wenger, D. A.; Schroer, R. J.; Olmstead, P. M.: Sialic acid storage disease with sialuria: clinical and biochemical features in the severe infantile type. Pediatrics 72: 441-449, 1983.
[0028181]18769.Swallow, D. M.; Evans, L.; Stewart, G.; Thomas, P. K.; Abrams, J. D.: Sialidosis type I: cherry red spot-myoclonus syndrome with sialidase deficiency and altered electrophoretic mobility of some enzymes known to be glycoproteins. II. Enzyme studies. Ann. Hum. Genet. 43: 27-35, 1979.
[0028182]18770.Swallow, D. M.; Hoogeveen, A. T.; Verheijen, F. W.; Galjaard, H.: Complementation analysis of human sialidase deficiency using natural substrates. Ann. Hum. Genet. 45: 105-112, 1981.
[0028183]18771.Kitagawa, T.: An animal model of human acid sphingomyelinase deficiency (Niemann-Pick disease) and the study of its enzyme replacement. Jpn. J. Hum. Genet. 32: 55-69, 1987.
[0028184]18772.Kurimasa, A.; Ohno, K.; Oshimura, M.: Restoration of the cholesterol metabolism in 3T3 cell lines derived from the sphingomyelinosis mouse (spm/spm) by transfer of a human chromosome 18. Hum. Genet. 92: 157-162, 1993.
[0028185]18773.Miyawaki, S.; Yoshida, H.; Mitsuoka, S.; Enomoto, H.; Ikehara, S.: A mouse model for Niemann-Pick disease: influence of genetic background on disease expression in spm/spm mice. J. Hered. 77: 379-384, 1986.
[0028186]18774.Mailly, F.; Palmen, J.; Muller, D. P. R.; Gibbs, T.; Lloyd, J.; Brunzell, J.; Durrington, P.; Mitropoulos, K.; Betteridge, J.; Watts, G.; Lithell, H.; Angelico, F.; Humphries, S. E.; Talmud, P. J.: Familial lipoprotein lipase (LPL) deficiency: a catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden, and Italy. Hum. Mutat. 10: 465-473, 1997.
[0028187]18775.Normand, T.; Bergeron, J.; Fernandez-Margallo, T.; Bharucha, A.; Ven Murthy, M. R.; Julien, P.; Gagne, C.; Dionne, C.; De Braekeleer, M.; Ma, R.; Hayden, M. R.; Lupien, P. J.: Geographic distribution and genealogy of mutation 207 of the lipoprotein lipase gene in the French Canadian population of Quebec. Hum. Genet. 89: 671-675, 1992.
[0028188]18776.Monsalve, M. V.; Henderson, H.; Roederer, G.; Julien, P.; Deeb, S.; Kastelein, J. J. P.; Peritz, L.; Devlin, R.; Bruin, T.; Murthy, M. R. V.; Gagne, C.; Davignon, J.; Lupien, P. J.; Brunzell, J. D.; Hayden, M. R.: A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries. J. Clin. Invest. 86: 728-734, 1990.
[0028189]18777.Campbell, C.; Cucci, R. A.; Prasad, S.; Green, G. E.; Edeal, J. B.; Galer, C. E.; Karniski, L. P.; Sheffield, V. C.; Smith, R. J. H.: Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. Hum. Mutat. 17: 403-411, 2001.
[0028190]18778.Everett, L. A.; Glaser, B.; Beck, J. C.; Idol, J. R.; Buchs, A.; Heyman, M.; Adawi, F.; Hazani, E.; Nassir, E.; Baxevanis, A. D.; Sheffield, V. C.; Green, E. D.: Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nature Genet. 17: 411-422, 1997.
[0028191]18779.Fugazzola, L.; Mannavola, D.; Cerutti, N.; Maghnie, M.; Pagella, F.; Bianchi, P.; Weber, G.; Persani, L.; Beck-Peccoz, P.: Molecular analysis of the Pendred's syndrome gene and magnetic resonance imaging studies of the inner ear are essential for the diagnosis of true Pendred's syndrome. J. Clin. Endocr. Metab. 85: 2469-2475, 2000.
[0028192]18780.Kopp, P.; Karamanoglu Arseven, O.; Sabacan, L.; Kotlar, T.; Dupuis, J.; Cavaliere, H.; Santos, C. L. S.; Jameson, J. L.; Medeiros-Neto, G.: Phenocopies for deafness and goiter development in a large inbred Brazilian kindred with Pendred's syndrome associated with a novel mutation in the PDS gene. J. Clin. Endocr. Metab. 84: 336-341, 1999.
[0028193]18781.Masmoudi, S.; Charfedine, I.; Hmani, M.; Grati, M.; Ghorbel, A. M.; Elgaied-Boulila, A.; Drira, M.; Hardelin, J.-P.; Ayadi, M.: Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation. Am. J. Med. Genet. 90: 38-44, 2000.
[0028194]18782.Boughman, J. A.; Conneally, P. M.; Nance, W. E.: Population genetic studies of retinitis pigmentosa. Am. J. Hum. Genet. 32: 223-235, 1980.
[0028195]18783.Gomez-Lira, M.; Perusi, C.; Mottes, M.; Pignatti, P. F.; Manfredi, M.; Rizzuto, N.; Salviati, A.: Molecular genetic characterization of two metachromatic leukodystrophy patients who carry the T799G mutation and show different phenotypes; description of a novel null-type mutation. Hum. Genet. 102: 459-463, 1998.
[0028196]18784.Neer, E. J.; Schmidt, C. J.; Smith, T.: LIS is more. Nature Genet. 5: 3-4, 1993.
[0028197]18785.Reiner, O.; Carrozzo, R.; Shen, Y.; Wehnert, M.; Faustinella, F.; Dobyns, W. B.; Caskey, C. T.; Ledbetter, D. H.: Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. Nature 364: 717-721, 1993.
[0028198]18786.Greene, H.; Hug, G.; Schubert, W. K.: Arylsulfatase A in the urine and metachromatic leukodystrophy. J. Pediat. 71: 709-711, 1967.
[0028199]18787.Greenfield, J. G.: Form of progressive cerebral sclerosis in infants associated with primary degeneration of interfascicular glia. Proc. Roy. Soc. Med. 26: 690-697, 1933.
[0028200]18788.Gustavson, K.-H.; Hagberg, B.: The incidence and genetics of metachromatic leukodystrophy in northern Sweden. Acta Paediat. Scand. 60: 585-590, 1971.
[0028201]18789.Hagberg, B.; Sourander, P.; Svennerholm, L.: Sulfatide lipidosis in childhood. Am. J. Dis. Child. 104: 644-656, 1962.
[0028202]18790.Haltia, T.; Palo, J.; Haltia, M.; Icen, A.: Juvenile metachromatic leukodystrophy: clinical, biochemical, and neuropathologic studies in nine new cases. Arch. Neurol. 37: 42-46, 1980.
[0028203]18791.Harvey, J. S.; Carey, W. F.; Morris, C. P.: Importance of the glycosylation and polyadenylation variants in metachromatic leukodystrophy pseudodeficiency phenotype. Hum. Molec. Genet. 7: 1215-1219, 1998.
[0028204]18792.Harvey, J. S.; Nelson, P. V.; Carey, W. F.; Robertson, E. F.; Morris, C. P.: An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy. Hum. Mutat. 2: 261-267, 1993.
[0028205]18793.Hasegawa, Y.; Kawame, H.; Eto, Y.: Mutations in the arylsulfatase A gene of Japanese patients with metachromatic leukodystrophy. DNA Cell Biol. 12: 493-498, 1993.
[0028206]18794.Hasegawa, Y.; Kawame, H.; Ida, H.; Ohashi, T.; Eto, Y.: Single exon mutation in arylsulfatase A gene has two effects: loss of enzyme activity and aberrant splicing. Hum. Genet. 93: 415-420, 1994.
[0028207]18795.Heinisch, U.; Zlotogora, J.; Kafert, S.; Gieselmann, V.: Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area. Am. J. Hum. Genet. 56: 51-57, 1995.
[0028208]18796.Herz, B.; Bach, G.: Arylsulfatase A in pseudodeficiency. Hum. Genet. 66: 147-150, 1984.
[0028209]18797.Hess, B.; Saftig, P.; Hartmann, D.; Coenen, R.; Lullmann-Rauch, R.; Goebel, H. H.; Evers, M.; von Figura, K.; D'Hooge, R.; Nagels, G.; De Deyn, P.; Peters, C.; Gieselmann, V.: Phenotype of arylsulfatase A-deficient mice: relationship to human metachromatic leukodystrophy. Proc. Nat. Acad. Sci. 93: 14821-14826, 1996.
[0028210]18798.Hohenschutz, C.; Eich, P.; Friedl, W.; Waheed, A.; Conzelmann, E.; Propping, P.: Pseudodeficiency of arylsulfatase A: a common genetic polymorphism with possible disease implications. Hum. Genet. 82: 45-48, 1989.
[0028211]18799.Hohenschutz, C.; Friedl, W.; Schlor, K.-H.; Waheed, A.; Conzelmann, E.; Sandhoff, K.; Propping, P.: Probable metachromatic leukodystrophy/pseudodeficiency compound heterozygote at the arylsulfatase A locus with neurological and psychiatric symptomatology. Am. J. Med. Genet. 31: 169-175, 1988.
[0028212]18800.Holve, S.; Hu, D.; McCandless, S. E.: Metachromatic leukodystrophy in the Navajo: fallout of the American-Indian Wars of the nineteenth century. Am. J. Med. Genet. 101: 203-208, 2001.
[0028213]18801.Honke, K.; Kobayashi, T.; Fujii, T.; Gasa, S.; Xu, M.; Takamaru, Y.; Kondo, R.; Tsuji, S.; Makita, A.: An adult-type metachromatic leukodystrophy caused by substitution of serine for glycine-122 in arylsulfatase A. Hum. Genet. 92: 451-456, 1993.
[0028214]18802.Hors-Cayla, M. C.; Heuertz, S.; Van Cong, N.; Weil, D.; Frezal, J.: Confirmation of the assignment of the gene for arylsulfatase A to chromosome 22 using somatic cell hybrids. Hum. Genet. 49: 33-39, 1979.
[0028215]18803.Jervis, G. A.: Infantile metachromatic leukodystrophy (Greenfield's disease). J. Neuropath. Exp. Neurol. 19: 323-341, 1960.
[0028216]18804.Kaback, M. M.; Howell, R. R.: Infantile metachromatic leukodystrophy: heterozygote detection in skin fibroblasts and possible applications to intrauterine diagnosis. New Eng. J. Med. 282: 1336-1340, 1970.
[0028217]18805.Kappler, J.; Sommerlade, H. J.; von Figura, K.; Gieselmann, V. : Complex arylsulfatase A alleles causing metachromatic leukodystrophy. Hum. Mutat. 4: 119-127, 1994.
[0028218]18806.Kappler, J.; von Figura, K.; Gieselmann, V.: Late-onset metachromatic leukodystrophy: molecular pathology in two siblings. Ann. Neurol. 31: 256-261, 1992.
[0028219]18807.Kihara, H.: Genetic heterogeneity in metachromatic leukodystrophy. Am. J. Hum. Genet. 34: 171-181, 1982.
[0028220]18808.Kihara, H.; Fluharty, A. L.; O'Brien, J. S.; Fish, C. H.: Metachromatic leukodystrophy caused by a partial cerebroside sulfatase defect. Clin. Genet. 21: 253-261, 1982.
[0028221]18809.Kihara, H.; Meek, W. E.; Fluharty, A. L.: Attenuated activities and structural alterations of arylsulfatase A in tissues from subjects with pseudo arylsulfatase A deficiency. Hum. Genet. 74: 59-62, 1986.
[0028222]18810.Kohn, H.; Manowitz, P.; Miller, M.; Kling, A.: Neuropsychological deficits in obligatory heterozygotes for metachromatic leukodystrophy. Hum. Genet. 79: 8-12, 1988.
[0028223]18811.Kondo, R.; Wakamatsu, N.; Yoshino, H.; Fukuhara, N.; Miyatake, T.; Tsuji, S.: Identification of a mutation in the arylsulfatase A gene of a patient with adult-type metachromatic leukodystrophy. Am. J. Hum. Genet. 48: 971-978, 1991.
[0028224]18812.Kreysing, J.; Bohne, W.; Bosenberg, C.; Marchesini, S.; Turpin, J. C.; Baumann, N.; von Figura, K.; Gieselmann, V.: High residual arylsulfatase A (ARSA) activity in a patient with lateinfantile metachromatic leukodystrophy. Am. J. Hum. Genet. 53: 339-346, 1993.
[0028225]18813.Krivit, W.; Shapiro, E.; Kennedy, W.; Lipton, M.; Lockman, L.; Smith, S.; Summers, C. G.; Wenger, D. A.; Tsai, M. Y.; Ramsay, N. K. C.; Kersey, J. H.; Yao, J. K.; Kaye, E.: Treatment of late infantile metachromatic leukodystrophy by bone marrow transplantation. New Eng. J. Med. 322: 28-32, 1990.
[0028226]18814.Langenbeck, U.; Dunker, P.; Heipertz, R.; Pilz, H.: Inheritance of metachromatic leukodystrophy. (Letter) Am. J. Hum. Genet. 29: 639-640, 1977.
[0028227]18815.Li, Z. G.; Waye, J. S.; Chang, P. L.: Diagnosis of arylsulfatase A deficiency. Am. J. Med. Genet. 43: 976-982, 1992.
[0028228]18816.Lugowska, A.; Berger, J.; Tylki-Szymanska, A.; Czartoryska, B.; Loschl, B.; Molzer, B.: High prevalence of I179S mutation in patients with late-onset metachromatic leukodystrophy. (Letter) Clin. Genet. 61: 389-390, 2002.
[0028229]18817.Lyon, G.; Arthiu, M.; Thieffry, S.: Leucodystrophie metachromatique infantile familiale: etude de deux observations, dont une avec examen anatomique et chimique. Rev. Neurol. 104: 508-533, 1961.
[0028230]18818.Masters, P. L.; MacDonald, W. B.; Ryan, M. M. P.; Cumings, J. N.: Familial leucodystrophy. Arch. Dis. Child. 39: 345-355, 1964.
[0028231]18819.Moser, H. W.: Sulfatide lipidosis: metachromatic leukodystrophy.In: Stanbury, J. B.; Wyngaarden, J. B.; Fredrickson, D. S.: The Metabolic Basis of Inherited Disease. New York: McGraw-Hill (pub.) (3rd ed.): 1972. Pp. 688-729.
[0028232]18820.Kestila, M.; Lenkkeri, U.; Mannikko, M.; Lamerdin, J.; McCready, P.; Putaala, H.; Ruotsalainen, V.; Morita, T.; Nissinen, M.; Herva, R.; Kashtan, C. E.; Peltonen, L.; Holmberg, C.; Olsen, A.; Tryggvason, K.: Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome. Molec. Cell 1: 575-582, 1998.
[0028233]18821.Muller, D.; Pilz, H.; Ter Meulen, V.: Studies on adult metachromatic leukodystrophy. I. Clinical, morphological and histochemical observations in two cases. J. Neurol. Sci. 9: 567-584, 1969.
[0028234]18822.Narahara, K.; Takahashi, Y.; Murakami, M.; Tsuji, K.; Yokoyama, Y.; Murakami, R.; Ninomiya, S.; Seino, Y.: Terminal 22q deletion associated with a partial deficiency of arylsulphatase A. J. Med. Genet. 29: 432-433, 1992.
[0028235]18823.Nelson, P. V.; Carey, W. F.; Morris, C. P.: Population frequency of the arylsulphatase A pseudo-deficiency allele. Hum. Genet. 87: 87-88, 1991.
[0028236]18824.Nicholls, R. G.; Roy, A. G.: Arylsulfatases.In: Boyer, P. D. : The Enzymes. New York: Academic Press (pub.) 5: 1971. Pp. 21-41.
[0028237]18825.Ott, R.; Waye, J. S.; Chang, P. L.: Evolutionary origins of two tightly linked mutations in arylsulfatase-A pseudodeficiency. Hum. Genet. 101: 135-140, 1997.
[0028238]18826.Pastor-Soler, N. M.; Rafi, M. A.; Hoffman, J. D.; Hu, D.; Wenger, D. A.: Metachromatic leukodystrophy in the Navajo Indian population: a splice site mutation in intron 4 of the arylsulfatase A gene. Hum. Mutat. 4: 199-207, 1994.
[0028239]18827.Percy, A. K.; Brady, R. O.: Metachromatic leukodystrophy: diagnosis with samples of venous blood. Science 161: 594-595, 1968.
[0028240]18828.Percy, A. K.; Kaback, M. M.: Infantile and adult-onset metachromatic leukodystrophy: biochemical comparisons and predictive diagnosis. New Eng. J. Med. 285: 785-787, 1971.
[0028241]18829.Percy, A. K.; Kaback, M. M.; Herndon, R. M.: Metachromatic leukodystrophy: comparison of early- and late-onset forms. Neurology 27: 933-941, 1977.
[0028242]18830.Pilz, H.; Duensing, I.; Heipertz, R.; Seidel, D.; Lowitsch, K.; Hopf, H. C.; Goebel, H. H.: Adult metachromatic leukodystrophy. I. Clinical manifestation in a female aged 44 years, previously diagnosed in the preclinical state. Europ. Neurol. 15: 301-307, 1977.
[0028243]18831.Pilz, H.; Muller, D.: Studies on adult metachromatic leukodystrophy. II. Biochemical aspects of adult cases of metachromatic leukodystrophy. J. Neurol. Sci. 9: 585-595, 1969.
[0028244]18832.Poenaru, L.; Castelnau, L.; Besancon, A.-M.; Nicolesco, H.; Akli, S.; Theophil, D.: First trimester prenatal diagnosis of metachromatic leukodystrophy on chorionic villi by 'immunoprecipitation-electrophoresis.'. J. Inherit. Metab. Dis. 11: 123-130, 1988.
[0028245]18833.Polten, A.; Fluharty, A. L.; Fluharty, C. B.; Kappler, J.; von Figura, K.; Gieselmann, V.: Molecular basis of different forms of metachromatic leukodystrophy. New Eng. J. Med. 324: 18-22, 1991.
[0028246]18834.Porter, M. T.; Fluharty, A. L.; Kihara, H.: Correction of abnormal cerebroside sulfate metabolism in cultured metachromatic leukodystrophy fibroblasts. Science 172: 1263-1265, 1971.
[0028247]18835.Porter, M. T.; Fluharty, A. L.; Trammell, J.; Kihara, H.: A correlation of intracellular cerebroside sulfatase activity in fibroblasts with latency in metachromatic leukodystrophy. Biochem. Biophys. Res. Commun. 44: 660-666, 1971.
[0028248]18836.Propping, P.; Friedl, W.; Huschka, M.; Schlor, K.-H.; Reimer, F.; Lee-Vaupel, M.; Conzelmann, E.; Sandhoff, K.: The influence of low arylsulfatase A activity on neuropsychiatric morbidity: a large-scale screening in patients. Hum. Genet. 74: 244-248, 1986.
[0028249]18837.Quigley, H. A.; Green, W. R.: Clinical and ultrastructural ocular histopathologic studies of adult-onset metachromatic leukodystrophy. Am. J. Ophthal. 82: 472-479, 1976.
[0028250]18838.Regis, S.; Corsolini, F.; Stroppiano, M.; Cusano, R.; Filocamo, M.: Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity. Hum. Genet. 110: 351-355, 2002.
[0028251]18839.Ricketts, M. H.; Poretz, R. D.; Manowitz, P.: The R496H mutation of arylsulfatase A does not cause metachromatic leukodystrophy. Hum. Mutat. 12: 238-239, 1998.
[0028252]18840.Sanguinetti, N.; Marsh, J.; Jackson, M.; Fensom, A. H.; Warren, R. C.; Rodeck, C. H.: The arylsulphatases of chorionic villi: potential problems in the first-trimester diagnosis of metachromatic leucodystrophy and Maroteaux-Lamy disease. Clin. Genet. 30: 302-308, 1986.
[0028253]18841.Schaap, T.; Zlotogora, J.; Elian, E.; Barak, Y.; Bach, G.: The genetics of the aryl sulfatase A locus. Am. J. Hum. Genet. 33: 531-539, 1981. 100. Schutta, H. S.; Pratt, R. T. C.; Metz, H.; Evans, K. A.; Carter, C. O.: A family study of the late infantile and juvenile forms of metachromatic leukodystrophy. J. Med. Genet. 3: 86-91, 1966. 101. Shen, N.; Li, Z.-G.; Waye, J. S.; Francis, G.; Chang, P. L.: Complications in the genotypic molecular diagnosis of pseudo arylsulfatase A deficiency. Am. J. Med. Genet. 45: 631-637, 1993. 102. Sourander, P.; Svennerholm, L.: Sulphatide lipidosis in the adult with the clinical picture of progressive organic dementia with epileptic seizures. Acta Neuropath. 1: 384-396, 1962. 103. Stein, C.; Gieselmann, V.; Kreysing, J.; Schmidt, B.; Pohlmann, R.; Waheed, A.; Meyer, H. E.; O'Brien, J. S.; von Figura, K.: Cloning and expression of human arylsulfatase A. J. Biol. Chem. 264: 1252-1259, 1989. 104. Stumpf, D. A.; Austin, J.: Metachromatic leukodystrophy (MLD). IX. Qualitative and quantitative differences in urinary arylsulfatase A in different forms of MLD. Arch. Neurol. 24: 117-124, 1971. 105. Tonnesen, T.; Bro, P. V.; Nielsen, K. B.; Lykkelund, C.: Metachromatic leukodystrophy and pseudoarylsulfatase A deficiency in a Danish family. Acta Paediat. Scand. 72: 175-178, 1983. 106. Tonnesen, T.; Vrang, C.; Wiesmann, U. N.; Christomanou, H.; Lou, H. O.: Atypical metachromatic leukodystrophy? Problems with the biochemical diagnosis. Hum. Genet. 67: 170-173, 1984. 107. Van Bogaert, L. V.; Dewulf, A.: Diffuse progressive leukodystrophy in the adult with production of metachromatic degenerative products (Alzheimer-Baroncini). Arch. Neurol. Psychiat. 42: 1083-1097, 1939. 108. von Figura, K.; Steckel, F.; Conary, J.; Hasilik, A.; Shaw, E. : Heterogeneity in late-onset metachromatic leukodystrophy: effect of inhibitors of cysteine proteinases. Am. J. Hum. Genet. 39: 371-382, 1986. 109. von Figura, K.; Steckel, F.; Hasilik, A.: Juvenile and adult metachromatic leukodystrophy: partial restoration of arylsulfatase A (cerebroside sulfatase) activity by inhibitors of thiol proteinases. Proc. Nat. Acad. Sci. 80: 6066-6070, 1983. 110. Waheed, A.; Steckel, F.; Hasilik, A.; von Figura, K.: Two allelic forms of human arylsulfatase A with different numbers of asparagine-linked oligosaccharides. Am. J. Hum. Genet. 35: 228-233, 1983. 111. Waltz, G.; Harik, S. I.; Kaufman, B.: Adult metachromatic leukodystrophy: value of computed tomographic scanning and magnetic resonance imaging of the brain. Arch. Neurol. 44: 225-227, 1987. 112. Yatziv, S.; Russell, A.: An unusual form of metachromatic leukodystrophy in three siblings. Clin. Genet. 19: 222-227, 1981. 113. Zlotogora, J.; Bach, G.: Deficiency of lysosomal hydrolases in apparently healthy individuals. Am. J. Med. Genet. 14: 73-80, 1983. 114. Zlotogora, J.; Bach, G.; Barak, Y.; Elian, E.: Metachromatic leukodystrophy in the Habbanite Jews: high frequency in a genetic isolate and screening for heterozygotes. Am. J. Hum. Genet. 32: 663-669, 1980. 115. Zlotogora, J.; Furman-Shaharabani, Y.; Harris, A.; Barth, M. L.; von Figura, K.; Gieselmann, V.: A single origin for the most frequent mutation causing late infantile metachromatic leucodystrophy. J. Med. Genet. 31: 672-674, 1994. 116. Zlotogora, J.; Gieselman, V.; von Figura, K.; Zeigler, M.; Bach, G.: Late infantile metachromatic leukodystrophy in Israel. Biomed. Pharmacother. 48: 347-350, 1994.
[0028254]18842.Rozet, J.-M.; Gerber, S.; Ghazi, I. Perrault, I.; Ducroq, D.; Souied, E.; Cabot, A.; Dufier, J.-L.; Munnich, A.; Kaplan, J.: Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus. J. Med. Genet. 36: 447-451, 1999.
[0028255]18843.Rozet, J.-M.; Gerber, S.; Souied, E.; Perrault, I.; Chatelin, S.; Ghazi, I.; Leowski, C.; Dufier, J.-L.; Munnich, A.; Kaplan, J. : Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. Europ. J. Hum. Genet. 6: 291-295, 1998.
[0028256]18844.Coppa, G. V.; Giorgi, P. L.; Felici, L.; Gabrielli, O.; Donti, E.; Bernasconi, S.; Kresse, H.; Paschke, E.; Mastropaolo, C.: Clinical heterogeneity in Sanfilippo disease (mucopolysaccharidosis III) type D: presentation of two new cases. Europ. J. Pediat. 140: 130-133, 1983.
[0028257]18845.Dhoot, G. K.; Gustafsson, M. K.; Ai, X.; Sun, W.; Standiford, D. M.; Emerson, C. P., Jr.: Regulation of Wnt signaling and embryo patterning by an extracellular sulfatase. Science 293: 1663-1666, 2001.
[0028258]18846.Freeman, C.; Clements, P. R.; Hopwood, J. J.: Human liver N-acetylglucosamine-6-sulphate sulphatase: purification and characterization. Biochem. J. 246: 347-354, 1987.
[0028259]18847.Freeman, C.; Hopwood, J. J.: Human liver N-acetylglucosamine-6-sulphate sulphatase: catalytic properties. Biochem. J. 246: 355-365, 1987.
[0028260]18848.Gatti, R.; Borrone, C.; Durand, P.; De Virgiliis, S.; Sanna, G.; Cao, A.; von Figura, K.; Kresse, H.; Paschke, E.: Sanfilippo type D disease: clinical findings in two patients with a new variant of mucopolysaccharidosis III. Europ. J. Pediat. 138: 168-171, 1982.
[0028261]18849.Kaplan, P.; Wolfe, L. S.: Sanfilippo syndrome type D. J. Pediat. 110: 267-271, 1987.
[0028262]18850.Kresse, H.; Paschke, E.; von Figura, K.; Gilberg, W.; Fuchs, W. : Sanfilippo disease type D: deficiency of N-acetylglucosamine-6-sulfate sulfatase required for heparan sulfate degradation. Proc. Nat. Acad. Sci. 77: 6822-6826, 1980.
[0028263]18851.Robertson, D. A.; Callen, D. F.; Baker, E. G.; Morris, C. P.; Hopwood, J. J.: Chromosomal localization of the gene for human glucosamine-6-sulphatase to 12q14. Hum. Genet. 79: 175-178, 1988.
[0028264]18852.Robertson, D. A.; Freeman, C.; Nelson, P. V.; Morris, C. P.; Hopwood, J. J.: Human glucosamine-6-sulfatase cDNA reveals homology with steroid sulfatase. Biochem. Biophys. Res. Commun. 157: 218-224, 1988.
[0028265]18853.Siciliano, L.; Fiumara, A.; Pavone, L.; Freeman, C.; Robertson, D.; Morris, C. P.; Hopwood, J. J.; Di Natale, P.; Musumeci, S.; Horwitz, A. L.: Sanfilippo syndrome type D in two adolescent sisters. J. Med. Genet. 28: 402-405, 1991.
[0028266]18854.Thompson, J. N.; Jones, M. Z.; Dawson, G.; Huffman, P. S.: N-acetylglucosamine 6-sulphatase deficiency in a Nubian goat: a model of Sanfilippo syndrome type D (mucopolysaccharidosis IIID). J. Inherit. Metab. Dis. 15: 760-768, 1992.
[0028267]18855.Baker, E.; Guo, X.-H.; Orsborn, A. M.; Sutherland, G. R.; Callen, D. F.; Hopwood, J. J.; Morris, C. P.: The Morquio A syndrome (mucopolysaccharidosis IVA) gene maps to 16q24.3. Am. J. Hum. Genet. 52: 96-98, 1993.
[0028268]18856.Beck, M.; Braun, S.; Coerdt, W.; Merz, E.; Young, E.; Sewell, A. C.: Fetal presentation of Morquio disease type A. Prenatal Diag. 12: 1019-1029, 1992.
[0028269]18857.Blaw, M. E.; Langer, L. O., Jr.: Spinal cord compression in Morquio-Brailsford's disease. J. Pediat. 74: 593-600, 1969.
[0028270]18858.Brailsford, J. F.: Chondro-osteo-dystrophy: roentgenographic and clinical features of child with dislocation of vertebrae. Am. J. Surg. 7: 404-410, 1929.
[0028271]18859.Bunge, S.; Kleijer, W. J.; Tylki-Szymanska, A.; Steglich, C.; Beck, M.; Tomatsu, S.; Fukuda, S.; Poorthuis, B. J. H. M.; Czartoryska, B.; Orii, T.; Gal, A.: Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome. Hum. Mutat. 10: 223-232, 1997.
[0028272]18860.Engel, A. G.; Lambert, E. H.; Gomez, M. R.: A new myasthenic syndrome with endplate acetylcholinesterase deficiency, small nerve terminals, and reduced acetylcholine release. Ann. Neurol. 1: 315-330, 1977.
[0028273]18861.Faiella, A.; Brunelli, S.; Granata, T.; D'Incerti, L.; Cardini, R.; Lenti, C.; Battaglia, G.; Boncinelli, E.: A number of schizencephaly patients including 2 brothers are heterozygous for germline mutations in the homeobox gene EMX2. Europ. J. Hum. Genet. 5: 186-190, 1997.
[0028274]18862.Li, Y.-T.; Hirabayashi, Y.; Li, S.-C.: Differentiation of two variants of type-AB Gm-2-gangliosidosis using chromogenic substrates. Am. J. Hum. Genet. 35: 520-522, 1983.
[0028275]18863.Rousseau-Merck, M.-F.; Duro, D.; Berger, R.; Thiesen, H. J.: Chromosomal localization of two KOX zinc finger genes on chromosome bands 7q21-q22. Ann. Genet. 38: 81-84, 1995.
[0028276]18864.Tommerup, N.; Vissing, H.: Isolation and fine mapping of 16 novel human zinc fingerencoding cDNAs identify putative candidate genes for developmental and malignant disorders. Genomics 27: 259-264, 1995.
[0028277]18865.Canman, C. E.; Radany, E. H.; Parsels, L. A.; Davis, M. A.; Lawrence, T. S.; Maybaum, J.: Induction of resistance to fluorodeoxyuridine cytotoxicity and DNA damage in human tumor cells by expression of Escherichia coli deoxyuridinetriphosphatase. Cancer Res. 54: 2296-2298, 1994.
[0028278]18866.Canman, C. E.; Tang, H. Y.; Normolle, D. P.; Lawrence, T. S.; Maybaum, J.: Variations in patterns of DNA damage induced in human colorectal tumor cells by 5-fluorodeoxyuridine: implications for mechanisms of resistance and cytotoxicity. Proc. Nat. Acad. Sci. 89: 10474-10478, 1992.
[0028279]18867.Chu, R.; Lin, Y.; Rao, M. S.; Reddy, J. K.: Cloning and identification of rat deoxyuridine triphosphatase as an inhibitor of peroxisome proliferator-activated receptor alpha. J. Biol. Chem. 271: 27670-27676, 1996.
[0028280]18868.Cohen, D.; Heng, H. H. Q.; Shi, X.-M.; McIntosh, E. M.; Tsui, L.-C.; Pearlman, R. E.: Assignment of the human dUTPase gene (DUT) to chromosome 15q15-q21.1 by fluorescence in situ hybridization. Genomics 40: 213-215, 1997.
[0028281]18869.el-Hajj, H. H.; Zhang, H.; Weiss, B.: Lethality of a dut (deoxyuridine triphosphatase) mutation in Escherichia coli. J. Bacteriol. 170: 1069-1075, 1988.
[0028282]18870.Ladner, R. D.; Caradonna, S. J.: The human dUTPase gene encodes both nuclear and mitochondrial isoforms: differential expression of the isoforms and characterization of a cDNA encoding the mitochondrial species. J. Biol. Chem. 272: 19072-19080, 1997.
[0028283]18871.Ladner, R. D.; McNulty, D. E.; Carr, S. A.; Roberts, G. D.; Caradonna, S. J.: Characterization of distinct nuclear and mitochondrial forms of human deoxyuridine triphosphate nucleotidohydrolase. J. Biol. Chem. 271: 7745-7751, 1996.
[0028284]18872.Lindahl, T.: DNA repair enzymes. Annu. Rev. Biochem. 51: 61-87, 1982.
[0028285]18873.McIntosh, E. M.; Ager, D. D.; Gadsden, M. H.; Haynes, R. H.: Human dUTP pyrophosphatase: cDNA sequence and potential biological importance of the enzyme. Proc. Nat. Acad. Sci. 89: 8020-8024, 1992. Note: Erratum: Proc. Nat. Acad. Sci.:90: 4328 only, 1993.
[0028286]18874.Boring, L.; Gosling, J.; Cleary, M.; Charo, I. F.: Decreased lesion formation in CCR2 -/- mice reveals a role for chemokines in the initiation of atherosclerosis. Nature 394: 894-897, 1998.
[0028287]18875.Charo, I. F.; Myers, S. J.; Herman, A.; Franci, C.; Connolly, A. J.; Coughlin, S. R.: Molecular cloning and functional expression of two monocyte chemoattractant protein 1 receptors reveals alternative splicing of the carboxyl-terminal tails. Proc. Nat. Acad. Sci. 91: 2752-2756, 1994.
[0028288]18876.Sun, D.-S.; Chang, A. C.; Jenkins, N. A.; Gilbert, D. J.; Copeland, N. G.; Chang, N.-C. A.: Identification, molecular characterization, and chromosomal localization of the cDNA encoding a novel leucine zipper motif-containing protein. Genomics 36: 54-62, 1996.
[0028289]18877.Barrett, T. E.; Savva, R.; Panayotou, G.; Barlow, T.; Brown, T.; Jiricny, J.; Pearl, L. H.: Crystal structure of a G:T/U mismatch-specific DNA glycosylase: mismatch recognition by complementary-strand interactions. Cell 92: 117-129, 1998.
[0028290]18878.De Gregorio, L.; Gallinari, P.; Gariboldi, M.; Manenti, G.; Pierotti, M. A.; Jiricny, J.; Dragani, T. A.: Genetic mapping of thymine DNA glycosylase (Tdg) gene and of one pseudogene in the mouse. Mammalian Genome 7: 909-910, 1996.
[0028291]18879.Lindahl, T.: DNA repair enzymes. Ann. Rev. Biochem. 51: 61-87, 1982.
[0028292]18880.Neddermann, P.; Gallinari, P.; Lettieri, T.; Schmid, D.; Truong, O.; Hsuan, J. J.; Wiebauer, K.; Jiricny, J.: Cloning and expression of human G/T mismatch-specific thymine-DNA glycosylase. J. Biol. Chem. 271: 12767-12774, 1996.
[0028293]18881.Sard, L.; Tornielli, S.; Gallinari, P.; Minoletti, F.; Jiricny, J.; Lettieri, T.; Pierotti, M. A.; Sozzi, G.; Radice, P.: Chromosomal localizations and molecular analysis of TDG gene-related sequences. Genomics 44: 222-226, 1997.
[0028294]18882.DiMarco, S. P.; Glover, T. W.; Miller, D. E.; Reines, D.; Warren, S. T.: Transcription elongation factor SII (TCEA) maps to human chromosome 3p22-p21.3. Genomics 36: 185-188, 1996.
[0028295]18883.Park, H.; Baek, K.; Jeon, C.; Agarwal, K.; Yoo, O.: Characterization of the gene encoding the human transcriptional elongation factor TFIIS. Gene 139: 263-267, 1994.
[0028296]18884.Reines, D.: Nascent RNA cleavage by transcription elongation complexes.In: Conaway, R. C.; Conaway, J. W. (eds.): Transcription: Mechanisms and Regulation. New York: Raven Press 1994. Pp. 263-278.
[0028297]18885.Thomas, M. J.; Platas, A. A.; Hawley, D. K.: Transcriptional fidelity and proofreading by RNA polymerase II. Cell 93: 627-637, 1998.
[0028298]18886.Applequist, S. E.; Selg, M.; Raman, C.; Jack, H.-M.: Cloning and characterization of HUPF1, a human homolog of the Saccharomyces cerevisiae nonsense mRNA-reducing UPF1 protein. Nucleic Acids Res. 25: 814-821, 1997.
[0028299]18887.Medghalchi, S. M.; Frischmeyer, P. A.; Mendell, J. T.; Kelly, A. G.; Lawler, A. M.; Dietz, H. C.: Rent1, a trans-effector of nonsense-mediated mRNA decay, is essential for mammalian embryonic viability. Hum. Molec. Genet. 10: 99-105, 2001.
[0028300]18888.Mendell, J. T.; ap Rhys, C. M. J.; Dietz, H. C.: Separable roles for rent1/hUpf1 in altered splicing and decay of nonsense transcripts. Science 298: 419-371, 2002.
[0028301]18889.Perlick, H. A.; Medghalchi, S. M.; Spencer, F. A.; Dietz, H. C. : Cloning and characterization of a human regulator of nonsense transcript stability. (Abstract) Am. J. Hum. Genet. 59 (suppl.): A32 only, 1996.
[0028302]18890.Perlick, H. A.; Medghalchi, S. M.; Spencer, F. A.; Kendzior, R. J., Jr.; Dietz, H. C.: Mammalian orthologues of a yeast regulator of nonsense transcript stability. Proc. Nat. Acad. Sci. 93: 10928-10932, 1996.
[0028303]18891.Sun, X.; Perlick, H. A.; Dietz, H. C.; Maquat, L. E.: A mutated human homologue to yeast Upf1 protein has a dominant-negative effect on the decay of nonsense-containing mRNAs in mammalian cells. Proc. Nat. Acad. Sci. 95: 10009-10014, 1998.
[0028304]18892.Eng, C.; Myers, S. M.; Kogon, M. D.; Sanicola, M.; Hession, C.; Cate, R. L.; Mulligan, L. M.: Genomic structure and chromosomal localization of the human GDNFR-alpha gene. Oncogene 16: 597-601, 1998.
[0028305]18893.GFR-alpha Nomenclature Committee: Nomenclature of GPI-linked receptors for the GDNF ligand family. Neuron 19: 485 only, 1997.
[0028306]18894.Gorodinsky, A.; Zimonjic, D. B.; Popescu, N. C.; Milbrandt, J. : Assignment of the GDNF family receptor alpha-1 (GFRA1) to human chromosome band 10q26 by in situ hybridization. Cytogenet. Cell Genet. 78: 289-290, 1997.
[0028307]18895.Jing, S.; Wen, D.; Yu, Y.; Holst, P. L.; Luo, Y.; Fang, M.; Tamir, R.; Antonio, L.; Hu, Z.; Cupples, R.; Louis, J.-C.; Hu, S.; Altrock, B. W.; Fox, G. M.: GDNF-induced activation of the Ret protein tyrosine kinase is mediated by GDNFR-alpha, a novel receptor for GDNF. Cell 85: 1113-1124, 1996.
[0028308]18896.Paratcha, G.; Ledda, F.; Baars, L.; Coulpier, M.; Besset, V.; Anders, J.; Scott, R.; Ibanez, C. F.: Released GFR-alpha-1 potentiates downstream signaling, neuronal survival, and differentiation via a novel mechanism of recruitment of c-Ret to lipid rafts. Neuron 29: 171-184, 2001.
[0028309]18897.Puliti, A.; Cinti, R.; Seri, M.; Ceccherini, I.; Romeo, G.: Assignment of mouse Gfra1, the homologue of a new human HSCR candidate gene, to the telomeric region of mouse chromosome 19. Cytogenet. Cell Genet. 78: 291-294, 1997.
[0028310]18898.Shefelbine, S. E.; Khorana, S.; Schultz, P. N.; Huang, E.; Thobe, N.; Hu, Z. J.; Fox, G. M.; Jing, S.; Cote, G. J.; Gagel, R. F.: Mutational analysis of the GDNF/RET-GDNFR-alpha signaling complex in a kindred with vesicoureteral reflux. Hum. Genet. 102: 474-478, 1998.
[0028311]18899.Bardelli, A.; Longati, P.; Albero, D.; Goruppi, S.; Schneider, C.; Ponzetto, C.; Comoglio, P. M.: HGF receptor associates with the anti-apoptotic protein BAG-1 and prevents cell death. EMBO J. 15: 6205-6212, 1996.
[0028312]18900.Takayama, S.; Kochel, K.; Irie, S.; Inazawa, J.; Abe, T.; Sato, T.; Druck, T.; Huebner, K.; Reed, J. C.: Cloning of cDNAs encoding the human BAG1 protein and localization of the human BAG1 gene to chromosome 9p12. Genomics 35: 494-498, 1996.
[0028313]18901.Takayama, S.; Sato, T.; Krajewski, S.; Kochel, K.; Irie, S.; Millan, J. A.; Reed, J. C.: Cloning and functional analysis of BAG-1: a novel Bcl-2-binding protein with anti-cell death activity. Cell 80: 279-284, 1995.
[0028314]18902.Wang, H.-G.; Takayama, S.; Rapp, U. R.; Reed, J. C.: Bcl-2 interacting protein, BAG-1, binds to and activates the kinase Raf-1. Proc. Nat. Acad. Sci. 93: 7063-7068, 1996.
[0028315]18903.Yang, X.; Pater, A.; Tang, S.-C.: Cloning and characterization of the human BAG-1 gene promoter: upregulation by tumor-derived p53 mutants. Oncogene 18: 4546-4553, 1999.
[0028316]18904.Chen, H.; Chrast, R.; Rossier, C.; Gos, A.; Antonarakis, S. E.; Kudoh, J.; Yamaki, A.; Shindoh, N.; Maeda, H.; Minoshima, S.; Shimizu, N.: Single-minded and Down syndrome? (Letter) Nature Genet. 10: 9-10, 1995.
[0028317]18905.Chrast, R.; Scott, H. S.; Madani, R.; Huber, L.; Wolfer, D. P.; Prinz, M.; Aguzzi, A.; Lipp, H.-P.; Antonarakis, S. E.: Mice trisomic for a bacterial artificial chromosome with the singleminded 2 gene (Sim2) show phenotypes similar to some of those present in the partial trisomy 16 mouse models of Down syndrome. Hum. Molec. Genet. 9: 1853-1864, 2000.
[0028318]18906.Dahmane, N.; Charron, G.; Lopes, C.; Yaspo, M.-L.; Maunoury, C.; Decorte, L.; Sinet, P.-M.; Bloch, B.; Delabar, J.-M.: Down syndrome-critical region contains a gene homologous to Drosophila sim expressed during rat and human central nervous system development. Proc. Nat. Acad. Sci. 92: 9191-9195, 1995.
[0028319]18907.Ema, M.; Ikegami, S.; Hosoya, T.; Mimura, J.; Ohtani, H.; Nakao, K.; Inokuchi, K.; Katsuki, M.; Fujii-Kuriyama, Y.: Mild impairment of learning and memory in mice overexpressing the mSim2 gene located on chromosome 16: an animal model of Down's syndrome. Hum. Molec. Genet. 8: 1409-1415, 1999.
[0028320]18908.Moffett, P.; Dayo, M.; Reece, M.; McCormick, M. K.; Pelletier, J.: Characterization of msim, a murine homologue of the Drosophila sim transcription factor. Genomics 35: 144-155, 1996.
[0028321]18909.Muenke, M.; Bone, L. J.; Mitchell, H. F.; Hart, I.; Walton, K.; Hall-Johnson, K.; Ippel, E. F.; Dietz-Band, J.; Kvaloy, K.; Fan, C.-M.; Tessier-Lavigne, M.; Patterson, D.: Physical mapping of the holoprosencephaly critical region in 21q22.3, exclusion of SIM2 as a candidate gene for holoprosencephaly, and mapping of SIM2 to a region of chromosome 21 important for Down syndrome. Am. J. Hum. Genet. 57: 1074-1079, 1995.
[0028322]18910.Yamaki, A.; Noda, S.; Kudoh, J.; Shindoh, N.; Maeda, H.; Minoshima, S.; Kawasaki, K.; Shimizu, Y.; Shimizu, N.: The mammalian single-minded (SIM) gene: mouse cDNA structure and diencephalic expression indicate a candidate gene for Down syndrome. Genomics 35: 136-143, 1996.
[0028323]18911.de Winter, J. P.; Leveille, F.; van Berkel, C. G. M.; Rooimans, M. A.; van der Weel, L.; Steltenpool, J.; Demuth, I.; Morgan, N. V.; Alon, N.; Bosnoyan-Collins, L.; Lightfoot, J.; Leegwater, P. A.; Waisfisz, Q.; Komatsu, K.; Arwert, F.; Pronk, J. C.; Mathew, C. G.; Digweed, M.; Buchwald, M.; Joenje, H.: Isolation of a cDNA representing the Fanconi anemia complementation group E gene. Am. J. Hum. Genet. 67: 1306-1308, 2000. Note: Erratum: Am. J. Hum. Genet. 67: 1365 only, 2000.
[0028324]18912.Hirotsune, S.; Fleck, M. W.; Gambello, M. J.; Bix, G. J.; Chen, A.; Clark, G. D.; Ledbetter, D. H.; McBain, C. J.; Wynshaw-Boris, A.: Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality. Nature Genet. 19: 333-339, 1998.
[0028325]18913.Kurahashi, H.; Sakamoto, M.; Ono, J.; Honda, A.; Okada, S.; Nakamura, Y.: Molecular cloning of the chromosomal breakpoint in the LIS1 gene of a patient with isolated lissencephaly and balanced t(8;17). Hum. Genet. 103: 189-192, 1998.
[0028326]18914.Liu, Z.; Steward, R.; Luo, L.: Drosophila Lis1 is required for neuroblast proliferation, dendritic elaboration and axonal transport. Nature Cell Biol. 2: 776-783, 2000.
[0028327]18915.Lo Nigro, C.; Chong, S. S.; Smith, A. C. M.; Dobyns, W. B.; Carrozzo, R.; Ledbetter, D. H.: Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. Hum. Molec. Genet. 6: 157-164, 1997.
[0028328]18916.Reiner, O.; Bar-Am, I.; Sapir, T.; Shmueli, O.; Carrozzo, R.; Lindsay, E. A.; Baldini, A.; Ledbetter, D. H.; Cahana, A.: LIS2, gene and pseudogene, homologous to LIS1 (lissencephaly 1), located on the short and long arms of chromosome 2. Genomics 30: 251-256, 1995.
[0028329]18917.Sakamoto, M.; Ono, J.; Okada, S.; Masuno, M.; Nakamura, Y.; Kurahashi, H.: Alteration of the LIS1 gene in Japanese patients with isolated lissencephaly sequence or Miller-Dieker syndrome. Hum. Genet. 103: 586-589, 1998.
[0028330]18918.Smith, D. S.; Niethammer, M.; Ayala, R.; Zhou, Y.; Gambello, M. J.; Wynshaw-Boris, A.; Tsai, L.-H.: Regulation of cytoplasmic dynein behaviour and microtubule organization by mammalian Lis1. Nature Cell Biol. 2: 767-775, 2000.
[0028331]18919.Sosa-Pineda, B.; Wigle, J. T.; Oliver, G.: Hepatocyte migration during liver development requires Prox1. Nature Genet. 25: 254-255, 2000.
[0028332]18920.Wigle, J. T.; Chowdhury, K.; Gruss, P.; Oliver, G.: Prox1 function is crucial for mouse lens-fibre elongation. Nature Genet. 21: 318-322, 1999.
[0028333]18921.Wigle, J. T.; Oliver, G.: Prox1 function is required for the development of the murine lymphatic system. Cell 98: 769-778, 1999.
[0028334]18922.Zinovieva, R. D.; Duncan, M. K.; Johnson, T. R.; Torres, R.; Polymeropoulos, M. H.; Tomarev, S. I.: Structure and chromosomal localization of the human homeobox gene Prox 1. Genomics 35: 517-522, 1996.
[0028335]18923.Ladenburger, E. M.; Fackelmayer, F. O.; Hameister, H.; Knippers, R.: MCM4 and PRKDC, human genes encoding proteins MCM4 and DNA-PKcs, are close neighbours located on chromosome 8q12-q13. Cytogenet. Cell Genet. 77: 268-270, 1997.
[0028336]18924.Ma, Y.; Pannicke, U.; Schwarz, K.; Lieber, M. R.: Hairpin opening and overhang processing by an Artemis/DNA-dependent protein kinase complex in nonhomologous end joining and V(D)J recombination. Cell 108: 781-794, 2002.
[0028337]18925.Satoh, T.; Tsuruga, H.; Yabuta, N.; Ishidate, M., Jr.; Nojima, H.: Assignment of the human CDC21 (MCM4) gene to chromosome 8q11.2. Genomics 46: 525-526, 1997.
[0028338]18926.Barresi, R.; Di Blasi, C.; Negri, T.; Brugnoni, R.; Vitali, A.; Felisari, G.; Salandi, A.; Daniel, S.; Cornelio, F.; Morandi, L.; Mora, M.: Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutations. J. Med. Genet. 37: 102-107, 2000.
[0028339]18927.Bonnemann, C. G.; Modi, R.; Noguchi, S.; Mizuno, Y.; Yoshida, M.; Gussoni, E.; McNally, E. M.; Duggan, D. J.; Angelini, C.; Hoffman, E. P.; Ozawa, E.; Kunkel, L. M.: Betasarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nature Genet. 11: 266-273, 1995. Note: Erratum: Nature Genet. 12: 110 only, 1996.
[0028340]18928.Bonnemann, C. G.; Passos-Bueno, M. R.; McNally, E. M.; Vainzof, M.; Moreira, E. S.; Marie, S. K.; Pavanello, R. C. M.; Noguchi, S.; Ozawa, E.; Zatz, M.; Kunkel, L. M.: Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E). Hum. Molec. Genet. 5: 1953-1961, 1996.
[0028341]18929.Bonnemann, C. G.; Wong, J.; Ben Hamida, C.; Ben Hamida, M.; Hentati, F.; Kunkel, L. M.: LGMD 2E in Tunisia is caused by a homozygous missense mutation in beta-sarcoglycan exon 3. Neuromusc. Dis. 8: 193-197, 1998.
[0028342]18930.Durbeej, M.; Cohn, R. D.; Hrstka, R. F.; Moore, S. A.; Allamand, V.; Davidson, B. L.; Williamson, R. A.; Campbell, K. P.: Disruption of the beta-sarcoglycan gene reveals pathogenetic complexity of limb-girdle muscular dystrophy type 2E. Molec. Cell 5: 141-151, 2000.
[0028343]18931.Joenje, H.; Lo Ten Foe, J. R.; Oostra, A. B.; van Berkel, C. G. M.; Rooimans, M. A.; Schroeder-Kurth, T.; Wegner, R.-D.; Gille, J. J. P.; Buchwald, M.; Arwert, F.: Classification of Fanconi anemia patients by complementation analysis: evidence for a fifth genetic subtype. Blood 86: 2156-2160, 1995.
[0028344]18932.Fielder, P. J.; Guevara-Aguirre, J.; Rosenbloom, A. L.; Carlsson, L.; Hintz, R. L.; Rosenfeld, R. G.: Expression of serum insulin-like growth factors, insulin-like growth factor-binding proteins, and the growth hormone-binding protein in heterozygote relatives of Ecuadorian growth hormone receptor deficient patients. J. Clin. Endocr. Metab. 74: 743-750, 1992.
[0028345]18933.Fisker, S.; Kristensen, K.; Rosenfalck, A. M.; Pedersen, S. B.; Ebdrup, L.; Richelsen, B.; Hilsted, J.; Christiansen, J. S.; Jorgensen, J. O. L.: Gene expression of a truncated and the full-length growth hormone (GH) receptor in subcutaneous fat and skeletal muscle in GH-deficient adults: impact of GH treatment. J. Clin. Endocr. Metab. 86: 792-796, 2001.
[0028346]18934.Gastier, J. M.; Berg, M. A.; Vesterhus, P.; Reiter, E. O.; Francke, U.: Diverse deletions in the growth hormone receptor gene cause growth hormone insensitivity syndrome. Hum. Mutat. 16: 323-333, 2000.
[0028347]18935.Godowski, P. J.; Leung, D. W.; Meacham, L. R.; Galgani, J. P.; Hellmiss, R.; Keret, R.; Rotwein, P. S.; Parks, J. S.; Laron, Z.; Wood, W. I.: Characterization of the human growth hormone receptor gene and demonstration of a partial gene deletion in two patients with Laron-type dwarfism. Proc. Nat. Acad. Sci. 86: 8083-8087, 1989.
[0028348]18936.Iida, K.; Takahashi, Y.; Kaji, H.; Nose, O.; Okimura, Y.; Abe, H.; Chihara, K.: Growth hormone (GH) insensitivity syndrome with high serum GH-binding protein levels caused by a heterozygous splice site mutation of the GH receptor gene producing a lack of intracellular domain. J. Clin. Endocr. Metab. 83: 531-537, 1998.
[0028349]18937.Iida, K.; Takahashi, Y.; Kaji, H.; Takahashi, M. O.; Okimura, Y.; Nose, O.; Abe, H.; Chihara, K.: Functional characterization of truncated growth hormone (GH) receptor-(1-277) causing partial GH insensitivity syndrome with high GH-binding protein. J. Clin. Endocr. Metab. 84: 1011-1016, 1999.
[0028350]18938.Jorge, A. A.; Souza, S. C.; Arnhold, I. J.; Mendonca, B. B.: Poor reproducibility of IGF-I and IGF binding protein-3 generation test in children with short stature and normal coding region of the GH receptor gene. J. Clin. Endocr. Metab. 87: 469-472, 2002.
[0028351]18939.Kaji, H.; Nose, O.; Tajiri, H.; Takahashi, Y.; Iida, K.; Takahashi, T.; Okimura, Y.; Abe, H.; Chihara, K.: Novel compound heterozygous mutations of growth hormone (GH) receptor gene in a patient with GH insensitivity syndrome. J. Clin. Endocr. Metab. 82: 3705-3709, 1997.
[0028352]18940.Kranzler, J. H.; Rosenbloom, A. L.; Martinez, V.; Guevara-Aguirre, J.: Normal intelligence with severe insulin-like growth factor I deficiency due to growth hormone receptor deficiency: a controlled study in a genetically homogeneous population. J. Clin. Endocr. Metab. 83: 1953-1958, 1998.
[0028353]18941.Laron, Z.; Klinger, B.; Erster, B.; Silbergeld, A.: Serum GH binding protein activities identifies the heterozygous carriers for Laron type dwarfism. Acta Endocr. 121: 603-608, 1989.
[0028354]18942.Leung, D. W.; Spencer, S. A.; Cachianes, G.; Hammonds, R. G.; Collins, C.; Henzel, W. J.; Barnard, R.; Waters, M. J.; Wood, W. I. : Growth hormone receptor and serum binding protein: purification, cloning and expression. Nature 330: 537-543, 1987.
[0028355]18943.Marzullo, P.; Buckway, C.; Pratt, K. L.; Colao, A.; Guevara-Aguirre, J.; Rosenfeld, R. G.: Leptin concentrations in GH deficiency: the effect of GH insensitivity. J. Clin. Endocr. Metab. 87: 540-545, 2002.
[0028356]18944.Menon, R. K.; Cheng, H.; Singh, M.: Identification and characterization of single strand DNA-binding protein that represses growth hormone receptor gene expression. Molec. Endocr. 11: 1291-1304, 1997.
[0028357]18945.Metherell, L. A.; Akker, S. A.; Munroe, P. B.; Rose, S. J.; Caulfield, M.; Savage, M. O.; Chew, S. L.; Clark, A. J. L.: Pseudoexon activation as a novel mechanism for disease resulting in atypical growth-hormone insensitivity. Am. J. Hum. Genet. 69: 641-646, 2001.
[0028358]18946.Rosenbloom, A. L.; Guevara-Aguirre, J.; Berg, M. A.; Francke, U.: Stature in Ecuadorians heterozygous for growth hormone receptor gene E180 splice mutation does not differ from that of homozygous normal relatives. J. Clin. Endocr. Metab. 83: 2373-2375, 1998.
[0028359]18947.Sanchez, J. E.; Perera, E.; Baumbach, L.; Cleveland, W. W.: Growth hormone receptor mutations in children with idiopathic short stature. J. Clin. Endocr. Metab. 83: 4079-4083, 1998.
[0028360]18948.Shen, X. Y.; Holt, R. I. G.; Miell, J. P.; Justice, S.; Portmann, B.; Postel-Vinay, M.-C.; Ross, R. J. M.: Cirrhotic liver expresses low levels of the full-length and truncated growth hormone receptors. J. Clin. Endocr. Metab. 83: 2532-2538, 1998.
[0028361]18949.Spencer, S. A.; Hammonds, R. G.; Henzel, W. J.; Rodriguez, H.; Waters, M. J.; Wood, W. I.: Rabbit liver growth hormone receptor and serum binding protein: purification, characterization, and sequence. J. Biol. Chem. 263: 7862-7867, 1988.
[0028362]18950.Walker, J. L.; Crock, P. A.; Behncken, S. N.; Rowlinson, S. W.; Nicholson, L. M.; Boulton, T. J. C.; Waters, M. J.: A novel mutation affecting the interdomain link region of the growth hormone receptor in a Vietnamese girl, and response to long-term treatment with recombinant human insulin-like growth factor-I and luteinizing hormone-releasing hormone analogue. J. Clin. Endocr. Metab. 83: 2554-2561, 1998.
[0028363]18951.Denier, C.; Ducros, A.; Durr, A.; Eymard, B.; Chassande, B.; Tournier-Lasserve, E.: Missense CACNA1A mutation causing episodic ataxia type 2. Arch. Neurol. 58: 292-295, 2001.
[0028364]18952.Byk, T.; Dobransky, T.; Cifuentes-Diaz, C.; Sobel, A.: Identification and molecular characterization of Unc-33-like phosphoprotein (Ulip), a putative mammalian homolog of the axonal guidance-associated unc-33 gene product. J. Neurosci. 16: 688-701, 1996.
[0028365]18953.Choe, H.; Farzan, M.; Sun, Y.; Sullivan, N.; Rollins, B.; Ponath, P. D.; Wu, L.; Mackay, C. R.; LaRosa, G.; Newman, W.; Gerard, N.; Gerard, C.; Sodroski, J.: The beta-chemokine receptors CCR3 and CCR5 facilitate infection by primary HIV-1 isolates. Cell 85: 1135-1148, 1996.
[0028366]18954.Diriong, S.; Lory, P.; Williams, M. E.; Ellis, S. B.; Harpold, M. M.; Taviaux, S.: Chromosomal localization of the human genes for alpha-1A, alpha-1B, and alpha-1E voltage-dependent Ca(2+) channel subunits. Genomics 30: 605-609, 1995.
[0028367]18955.Ducros, A.; Denier, C.; Joutel, A.; Cecillon, M.; Lescoat, C.; Vahedi, K.; Darcel, F.; Vicaut, E.; Bousser, M.-G.; Tournier-Lasserve, E.: The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel. New Eng. J. Med. 345: 17-24, 2001.
[0028368]18956.Dunlap, K.; Luebke, J. I.; Turner, T. J.: Exocytotic Ca(2+) channels in mammalian central neurons. Trends Neurosci. 18: 89-98, 1995.
[0028369]18957.Fletcher, C. F.; Lutz, C. M.; O'Sullivan, T. N.; Shaughnessy, J. D, Jr.; Hawkes, R.; Frankel, W. N.; Copeland, N. G.; Jenkins, N. A. : Absence epilepsy in tottering mutant mice is associated with calcium channel defects. Cell 87: 607-617, 1996.
[0028370]18958.Friend, K. L.; Crimmins, D.; Phan, T. G.; Sue, C. M.; Colley, A.; Fung, V. S. C.; Morris, J. G. L.; Sutherland, G. R.; Richards, R. I.: Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM. Hum. Genet. 105: 261-265, 1999.
[0028371]18959.Hess, E. J.: Migraines in mice? Cell 87: 1149-1151, 1996.
[0028372]18960.Hoffman, E. P.; Gardner, K.: Ion channels--molecular divining rods hit their clinical mark. New Eng. J. Med. (Editorial) 336: 1599-1600, 1997.
[0028373]18961.Jodice, C.; Mantuano, E.; Veneziano, L.; Trettel, F.; Sabbadini, G.; Calandriello, L.; Francia, A.; Spadaro, M.; Pierelli, F.; Salvi, F.; Ophoff, R. A.; Frants, R. R.; Frontali, M.: Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. Hum. Molec. Genet. 6: 1973-1978, 1997.
[0028374]18962.Kim, J.-S.; Yue, Q.; Jen, J. C.; Nelson, S. F.; Baloh, R. W.: Familial migraine with vertigo: no mutations found in CACNA1A. Am. J. Med. Genet. 79: 148-151, 1998.
[0028375]18963.Kraus, R. L.; Sinnegger, M. J.; Glossmann, H.; Hering, S.; Striessnig, J.: Familial hemiplegic migraine mutations change alpha(1A)Ca(2+) channel kinetics. J. Biol. Chem. 273: 5586-5590, 1998.
[0028376]18964.Guida, S.; Trettel, F.; Pagnutti, S.; Mantuano, E.; Tottene, A.; Veneziano, L.; Fellin, T.; Spadaro, M.; Stauderman, K. A.; Williams, M. E.; Volsen, S.; Ophoff, R. A.; Frants, R. R.; Jodice, C.; Frontali, M.; Pietrobon, D.: Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2. Am. J. Hum. Genet. 68: 759-764, 2001.
[0028377]18965.Ishikawa, K.; Tanaka, H.; Saito, M.; Ohkoshi, N.; Fujita, T.; Yoshizawa, K.; Ikeuchi, T.; Watanabe, M.; Hayashi, A.; Takiyama, Y.; Nishizawa, M.; Nakano, I.; Matsubayashi, K.; Miwa, M.; Shoji, S.; Kanazawa, I.; Tsuji, S.; Mizusawa, H.: Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1. Am J. Hum. Genet. 61: 336-346, 1997.
[0028378]18966.Kors, E. E.; Terwindt, G. M.; Vermeulen, F. L. M. G.; Fitzsimons, R. B.; Jardine, P. E.; Heywood, P.; Love, S.; van den Maagdenberg, A. M. J. M.; Haan, J.; Frants, R. R.; Ferrari, M. D.: Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunuit gene and relationship with familial hemiplegic migraine. Ann. Neurol. 49: 753-760, 2001.
[0028379]18967.Kraus, R. L.; Sinnegger, M. J.; Koschak, A.; Glossmann, H.; Stenirri, S.; Carrera, P.; Striessnig, J.: Three new familial hemiplegic migraine mutants affect P/Q-type Ca(2+) channel kinetics. J. Biol. Chem. 275: 9239-9243, 2000.
[0028380]18968.Lehmann-Horn, F.; Jurkat-Rott, K.: Voltage-gated ion channels and hereditary disease. Physiol. Rev. 79: 1317-1372, 1999.
[0028381]18969.Matsuyama, Z.; Kawakami, H.; Maruyama, H.; Izumi, Y.; Komure, O.; Udaka, F.; Kameyama, M.; Nishio, T.; Kuroda, Y.; Nishimura, M.; Nakamura, S.: Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6). Hum. Molec. Genet. 6: 1283-1287, 1997.
[0028382]18970.Riess, O.; Schols, L.; Bottger, H.; Nolte, D.; Viera-Saecker, A. M. M.; Schimming, C.; Kreuz, F.; Macek, M., Jr.; Krebsova, A.; Macek, M., Sr.; Klockgether, T.; Zuhlke, C.; Laccone, F. A.: SCA6 is caused by moderate CAG expansion in the alpha(1A)-voltage-dependent calcium channel gene. Hum. Molec. Genet. 6: 1289-1293, 1997.
[0028383]18971.Sasaki, H.; Kojima, H.; Yabe, I.; Tashiro, K.; Hamada, T.; Sawa, H.; Hiraga, H.; Nagashima, K.: Neuropathological and molecular studies of spinocerebellar ataxia type 6 (SCA6). Acta. Neuropath. 95: 199-204, 1998.
[0028384]18972.Scoggan, K. A.; Chandra, T.; Nelson, R.; Hahn, A. F.; Bulman, D. E.: Identification of two novel mutations in the CACNA1A gene responsible for episodic ataxia type 2. (Letter) J. Med. Genet. 38: 249-253, 2001.
[0028385]18973.Thibault, O.; Landfield, P. W.: Increase in single L-type calcium channels in hippocampal neurons during aging. Science 272: 1017-1019, 1996.
[0028386]18974.Toru, S.; Murakoshi, T.; Ishikawa, K.; Saegusa, H.; Fujigasaki, H.; Uchihara, T.; Nagayama, S.; Osanai, M.; Mizusawa, H.; Tanabe, T.: Spinocerebellar ataxia type 6 mutation alters Ptype calcium channel function. J. Biol. Chem. 275: 10893-10898, 2000.
[0028387]18975.Trettel, F.; Mantuano, E.; Calabresi, V.; Veneziano, L.; Olsen, A. S.; Georgescu, A.; Gordon, L.; Sabbadini, G.; Frontali, M.; Jodice, C.: A fine physical map of the CACNA1A gene region on 19p13.1-p13.2 chromosome. Gene 241: 45-50, 2000.
[0028388]18976.Vahedi, K.; Denier, C.; Ducros, A.; Bousson, V.; Levy, C.; Chabriat, H.; Haguenau, M.; Tournier-Lasserve, E.; Bousser, M. G.: CACNA1A gene de novo mutation causing hemiplegic migraine, coma, and cerebellar atrophy. Neurology 55: 1040-1042, 2000.
[0028389]18977.Ben-Porath, I.; Benvenisty, N.: Characterization of a tumor-associated gene, a member of a novel family of genes encoding membrane glycoproteins. Gene 183: 69-75, 1996.
[0028390]18978.Bosch, E. P.; Murphy, M. J.; Cancilla, P. A.: Peripheral neurofibromatosis and peroneal muscular atrophy. Neurology 31: 1408-1414, 1981.
[0028391]18979.Bridges, C. B.: The Bar 'gene' a duplication. Science 83: 210-211, 1936.
[0028392]18980.Gabreels-Festen, A. A. W. M.; Joosten, E. M. G.; Gabreels, F. J. M.; Jennekens, F. G. I.; Janssen-van Kempen, T. W.: Early morphological features in dominantly inherited demyelinating motor and sensory neuropathy (HMSN type I). J. Neurol. Sci. 107: 145-154, 1992.
[0028393]18981.Green, M. C.: Genetic variants and strains of the laboratory mouse. New York: Oxford Univ. Press (pub.) 1989.
[0028394]18982.Hartl, D. L.: The most unkindest cut of all. Nature Genet. 12: 227-229, 1996.
[0028395]18983.Hoogendijk, J. E.; Hensels, G. W.; Zorn, I.; Valentijn, L.; Janssen, E. A. M.; de Visser, M.; Barker, D. F.; Ongerboer de Visser, B. W.; Baas, F.; Bolhuis, P. A.: The duplication in Charcot-Marie-Tooth disease type 1a spans at least 1100 kb on chromosome 17p11.2. Hum. Genet. 88: 215-218, 1991.
[0028396]18984.Hoogendijk, J. E.; Janssen, E. A. M.; Gabreels-Festen, A. A. W. M.; Hensels, G. W.; Joosten, E. M. G.; Gabreels, F. J. M.; Zorn, I.; Valentijn, L. J.; Baas, F.; Ongerboer de Visser, B. W.; de Visser, M.; Bolhuis, P. A.: Allelic heterogeneity in hereditary motor and sensory neuropathy type 1a (Charcot-Marie-Tooth disease type 1a). Neurology 43: 1010-1015, 1993.
[0028397]18985.Ikegami, T.; Ikeda, H.; Aoyama, M.; Matsuki, T.; Imota, T.; Fukuuchi, Y.; Amano, T.; Toyoshima, I.; Ishihara, Y.; Endoh, H.; Hayasaka, K. : Novel mutations of the peripheral myelin protein 22 gene in two pedigrees with Dejerine-Sottas disease. Hum. Genet. 102: 294-298, 1998.
[0028398]18986.Ikegami, T.; Ikeda, H.; Chance, P. F.; Kiyosawa, H.; Yamamoto, M.; Sobue, G.; Ohnishi, A.; Tachi, N.; Hayasaka, K.: Facilitated diagnosis of CMT1A duplication in chromosome 17p11.2-12: analysis with a CMT1A-REP repeat probe and photostimulated luminescence imaging. Hum. Mutat. 9: 563-566, 1997.
[0028399]18987.Ionasescu, V. V.; Searby, C.; Greenberg, S. A.: Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of the PMP22 gene. J. Med. Genet. 33: 1048-1049, 1996.
[0028400]18988.Isaacs, A. M.; Davies, K. E.; Hunter, A. J.; Nolan, P. M.; Vizor, L.; Peters, J.; Gale, D. G.; Kelsell, D. P.; Latham, I. D.; Chase, J. M.; Fisher, E. M. C.; Bouzyk, M. M.; and 11 others: Identification of two new Pmp22 mouse mutants using large-scale mutagenesis and a novel rapid mapping strategy. Hum. Molec. Genet. 9: 1865-1871, 2000.
[0028401]18989.King, P. H.; Waldrop, R.; Lupski, J. R.; Shaffer, L. G.: Charcot-Marie-Tooth phenotype produced by a duplicated PMP22 gene as part of a 17p trisomy-translocation to the X chromosome. Clin. Genet. 54: 413-416, 1998.
[0028402]18990.Kousseff, B. G.; Hadro, T. A.; Treiber, D. L.; Wollner, T.; Morris, C.: Charcot-Marie-Tooth disease with sensorineural hearing loss--an autosomal dominant trait. Birth Defects Orig. Art. Ser. 18: 223-228, 1982.
[0028403]18991.Kovach, M. J.; Lin, J.-P.; Boyadjiev, S.; Campbell, K.; Mazzeo, L.; Herman, K.; Rimer, L. A.; Frank, W.; Llewellyn, B.; Jabs, E. W.; Gelber, D.; Kimonis, V. E.: A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness. Am. J. Hum. Genet. 64: 1580-1593, 1999.
[0028404]18992.Liehr, T.; Rautenstrauss, B.; Grehl, H.; Bathke, K. D.; Ekici, A.; Rauch, A.; Rott, H.-D.: Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion. Hum. Genet. 98: 22-28, 1996.
[0028405]18993.Gaetano, C; Matsuo, T.; Thiele, C. J.: Identification and characterization of a retinoic acid-regulated human homologue of the unc-33-like phosphoprotein gene (hUlip) from neuroblastoma cells. J. Biol. Chem. 272: 12195-12201, 1997.
[0028406]18994.Matsuo, T.; Stauffer, J. K.; Walker, R. L.; Meltzer, P.; Thiele, C. J.: Structure and promoter analysis of the human unc-33-like phosphoprotein gene: E-box required for maximal expression in neuroblastoma and myoblasts. J. Biol. Chem. 275: 16560-16568, 2000.
[0028407]18995.Behm, F. G.; Smith, F. O.; Raimondi, S. C.; Pui, C.-H.; Bernstein, I. D.: Human homologue of the rat chondroitin sulfate proteoglycan, NG2, detected by monoclonal antibody 7.1, identifies childhood acute lymphoblastic leukemias with t(4;11)(q21;q23) or t(11;19)(q23;p13) and MLL gene rearrangements. Blood 87: 1134-1139, 1996.
[0028408]18996.Pluschke, G.; Vanek, M.; Evans, A.; Dittmar, T.; Schmid, P.; Itin, P.; Filardo, E. J.; Reisfeld, R. A.: Molecular cloning of a human melanoma-associated chondroitin sulfate proteoglycan. Proc. Nat. Acad. Sci. 93: 9710-9715, 1996.
[0028409]18997.Rettig, W. J.; Dracopoli, N. C.; Goetzger, T. A.; Spengler, B. A.; Biedler, J. L.; Oettgen, H. F.; Old, L. J.: Somatic cell genetic analysis of human cell surface antigens: chromosomal assignments and regulation of expression in rodent-human hybrid cells. Proc. Nat. Acad. Sci. 81: 6437-6441, 1984.
[0028410]18998.Rettig, W. J.; Real, F. X.; Spengler, B. A.; Biedler, J. L.; Old, L. J.: Human melanoma proteoglycan: expression in hybrids controlled by intrinsic and extrinsic signals. Science 231: 1281-1284, 1986.
[0028411]18999.Smith, F. O.; Rauch, C.; Williams, D. E.; March, C. J.; Arthur, D.; Hilden, J.; Lampkin, B. C.; Buckley, J. D.; Buckley, C. V.; Woods, W. G.; Dinndorf, P. A.; Sorensen, P.; Kersey, J.; Hammond, D.; Bernstein, I. D.: The human homologue of rat NG2, a chondroitin sulfate proteoglycan, is not expressed on the cell surface of normal hematopoietic cells but is expressed by acute myeloid leukemia blasts from poor-prognosis patients with abnormalities of chromosome band 11q23. Blood 87: 1123-1133, 1996.
[0028412]19000.Clark, J.; Moore, L.; Krasinskas, A.; Way, J.; Battey, J.; Tamkun, J.; Kahn, R. A.: Selective amplification of additional members of the ADP-ribosylation factor (ARF) family: cloning of additional human and Drosophila ARF-like genes. Proc. Nat. Acad. Sci. 90: 8952-8956, 1993.
[0028413]19001.Gipp, J. J.; Bailey, H. H.; Mulcahy, R. T.: Cloning and sequencing of the cDNA for the light subunit of human liver gamma-glutamylcysteine synthetase and relative mRNA levels for heavy and light subunits in human normal tissues. Biochem. Biophys. Res. Commun. 206: 584-589, 1995.
[0028414]19002.Huang; C.-S.; Anderson; M. E.; Meister, A.: Amino acid sequence and function of the light subunit of rat kidney gamma-glutamylcysteine synthetase. J. Biol. Chem. 268: 20578-20583, 1993.
[0028415]19003.Sierra-Rivera, E.; Dasouki, M.; Summar, M. L.; Krishnamani, M. R. S.; Meredith, M.; Rao, P. N.; Phillips, J. A., III; Freeman, M. L.: Assignment of the human gene (GLCLR) that encodes the regulatory subunit of gamma-glutamylcysteine synthetase to chromosome 1p21. Cytogenet. Cell Genet. 72: 252-254, 1996.
[0028416]19004.Tsuchiya, K.; Mulcahy, R. T.; Reid, L. L.; Disteche, C. M.; Kavanagh, T. J.: Mapping of the glutamate-cysteine ligase catalytic subunit gene (GLCLC) to human chromosome 6p12 and mouse chromosome 9D-E and of the regulatory subunit gene (GLCLR) to human chromosome 1p21-p22 and mouse chromosome 3H1-3. Genomics 30: 630-632, 1995.
[0028417]19005.Rozet, J.-M.; Gerber, S.; Perrault, I.; Calvas, P.; Souied, E.; Chatelin, S.; Viegas-Pequignot, E.; Molina-Gomez, D.; Munnich, A.; Kaplan, J.: Structure and refinement of the physical mapping of the gamma-glutamylcysteine ligase regulatory subunit (GLCLR) gene to chromosome 1pp22.1 within the critically deleted region of human malignant mesothelioma. Cytogenet. Cell Genet. 82: 91-94, 1998.
[0028418]19006.Ellis, J. A.; Luzio, J. P.: Identification and characterization of a novel protein (p137) which transcytoses bidirectionally in Caco-2 cells. J. Biol. Chem. 270: 20717-20723, 1995.
[0028419]19007.Gessler, M.; Klamt, B.; Tsaoussidou, S.; Ellis, J. A.; Luzio, J. P.: The gene encoding the GPI-anchored membrane protein p137(GPI) (M11S1) maps to human chromosome 11p13 and is highly conserved in the mouse. Genomics 32: 169-170, 1996.
[0028420]19008.Rouault, J.-P; Falette, N.; Guehenneux, F.; Guillot, C.; Rimokh, R.; Wang, Q.; Berthet, C.; Moyret-Lalle, C.; Savatier, P.; Pain, B.; Shaw, P.; Berger, R.; Samarut, J.; Magaud, J.-P.; Ozturk, M.; Samarut, C.; Puisieux, A.: Identification of BTG2, an antiproliferative p53-dependent component of the DNA damage cellular response pathway. Nature Genet. 14: 482-486, 1996.
[0028421]19009.Ring, H. Z.; Vameghi-Meyers, V.; Wang, W.; Crabtree, G. R.; Francke, U.: Five SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin (SMARC) genes are dispersed in the human genome. Genomics 51: 140-143, 1998.
[0028422]19010.Wang, W.; Xue, Y.; Zhou, S.; Kuo, A.; Cairns, B. R.; Crabtree, G. R.: Diversity and specialization of mammalian SWI/SNF complexes. Genes Dev. 10: 2117-2130, 1996.
[0028423]19011.Kim, B.-T.; Kitagawa, H.; Tamura, J.; Saito, T.; Kusche-Gullberg, M.; Lindahl, U.; Sugahara, K.: Human tumor suppressor EXT gene family members EXTL1 and EXTL3 encode alpha-1,4-N-acetylglucosaminyltransferases that likely are involved in heparan sulfate/heparin biosynthesis. Proc. Nat. Acad. Sci. 98: 7176-7181, 2001.
[0028424]19012.Wise, C. A.; Clines, G. A.; Massa, H.; Trask, B. J.; Lovett, M. : Identification and localization of the gene for EXTL, a third member of the multiple exostoses gene family. Genome Res. 7: 10-16, 1997.
[0028425]19013.Moskow, J. J.; Bullrich, F.; Huebner, K.; Daar, I. O.; Buchberg, A. M.: Meis1, a PBX1-related homeobox gene involved in myeloid leukemia in BXH-2 mice. Molec. Cell. Biol. 15: 5434-5443, 1995.
[0028426]19014.Steelman, S.; Moskow, J. J.; Muzynski, K.; North, C.; Druck, T.; Montgomery, J. C.; Huebner, K.; Daar, I. O.; Buchberg, A. M.: Identification of a conserved family of Meis1-related homeobox genes. Genome Res. 7: 142-156, 1997.
[0028427]19015.Thorsteinsdottir, U.; Kroon, E.; Jerome, L.; Blasi, F.; Sauvageau, G.: Defining roles for HOX and MEIS1 genes in induction of acute myeloid leukemia. Molec. Cell. Biol. 21: 224-234, 2001.
[0028428]19016.Capdevila, J.; Tsukui, T.; Esteban, C. R.; Zappavigna, V.; Belmonte, J. C. I.: Control of vertebrate limb outgrowth by the proximal factor Meis2 and distal antagonism of BMPs by Gremlin. Molec. Cell 4: 839-849, 1999.
[0028429]19017.Nakamura, T.; Jenkins, N. A.; Copeland, N. G.: Identification of a new family of Pbxrelated homeobox genes. Oncogene 13: 2235-2242, 1996.
[0028430]19018.Smith, J. E.; Afonja, O.; Yee, H. T.; Inghirami, G.; Takeshita, K.: Chromosomal mapping to 15q14 and expression analysis of the human MEIS2 homeobox gene. Mammalian Genome 8: 951-952, 1997.
[0028431]19019.Kobayashi, S.; Uemura, H.; Kohda, T.; Nagai, T.; Chinen, Y.; Naritomi, K.; Kinoshita, E.; Ohashi, H.; Imaizumi, K.; Tsukahara, M.; Sugio, Y.; Tonoki, H.; Kishino, T.; Tanaka, T.; Yamada, M.; Tsutsumi, O.; Niikawa, N.; Kaneko-Ishino, T.; Ishino, F.: No evidence of PEG1/MEST gene mutations in Silver-Russell syndrome patients. Am. J. Med. Genet. 104: 225-231, 2001.
[0028432]19020.Mizuno, K.; Hasegawa, K.; Katagiri, T.; Ogimoto, M.; Ichikawa, T.; Yakura, H.: MPTP-delta, a putative murine homolog of HPTP-delta, is expressed in specialized regions of the brain and in the B-cell lineage. Molec. Cell. Biol. 13: 5513-5523, 1993.
[0028433]19021.Uetani, N.; Kato, K.; Ogura, H.; Mizuno, K.; Kawano, K.; Mikoshiba, K.; Yakura, H.; Asano, M.; Iwakura, Y.: Impaired learning with enhanced hippocampal long-term potentiation in PTPdelta-deficient mice. EMBO J. 19: 2775-2785, 2000.
[0028434]19022.Heighway, J.; Betticher, D. C.; Hoban, P. R.; Altermatt, H. J.; Cowen, R.: Coamplification in tumors of KRAS2, type 2 inositol 1,4,5 triphosphate receptor gene, and a novel human gene, KRAG. Genomics 35: 207-214, 1996.
[0028435]19023.Scott, A. F.; Elizaga, A.; Morrell, J.; Bergen, A.; Penno, M. B. : Characterization of a gene coamplified with Ki-ras in Y1 murine adrenal carcinoma cells that codes for a putative membrane protein. Genomics 20: 227-230, 1994.
[0028436]19024.Monte, D.; Baert, J. L.; Defossez, P. A.; de Launoit, Y.; Stehelin, D.: Molecular cloning and characterization of human ERM, a new member of the Ets family closely related to mouse PEA3 and ER81 transcription factors. Oncogene 9: 1397-1406, 1994.
[0028437]19025.Monte, D.; Coutte, L.; Dewitte, F.; Defossez, P.-A.; Le Coniat, M.; Stehelin, D.; Berger, R.; de Launoit, Y.: Genomic organization of the human ERM (ETV5) gene, a PEA3 group member of ETS transcription factors. Genomics 35: 236-240, 1996.
[0028438]19026.Protopopova, M. V.; Vorobieva, N. V.; Protopopov, A. I.; Gizatullin, R. Z.; Kashuba, V. I.; Klein, G.; Zabarovsky, E. R.; Graphodatsky, A. S.: Assignment of the ERM gene (ETV5) coding for the ets-related protein to human chromosome band 3q28 by in situ hybridization. Cytogenet. Cell Genet. 74: 220 only, 1996.
[0028439]19027.Bosher, J. M.; Williams, T.; Hurst, H. C.: The developmentally regulated transcription factor AP-2 is involved in c-erbB-2 overexpression in human mammary carcinoma. Proc. Nat. Acad. Sci. 92: 744-747, 1995.
[0028440]19028.Brown, M. E.; Pollak, M.; Seidman, C. E.; Seidman, J. G.; Chou, Y.-H. W.; Riccardi, D.; Herbert, S. C.: Calcium-ion-sensing cell-surface receptors. New Eng. J. Med. 333 -234-240, 1995.
[0028441]19029.Carling, T.; Szabo, E.; Bai, M.; Ridefelt, P.; Westin, G.; Gustavsson, P.; Trivedi, S.; Hellman, P.; Brown, E. M.; Dahl, N.; Rastad, J.: Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor. J. Clin. Endocr. Metab. 85: 2042-2047, 2000.
[0028442]19030.Cetani, F.; Pinchera, A.; Pardi, E.; Cianferotti, L.; Vignali, E.; Picone, A.; Miccoli, P.; Viacava, P.; Marcocci, C.: No evidence for mutations in the calcium-sensing receptor gene in sporadic parathyroid adenomas. J. Bone Miner. Res. 14: 878-882, 1999.
[0028443]19031.D'Souza-Li, L.; Canaff, L.; Janicic, N.; Cole, D. E. C.; Hendy, G. N.: An acceptor splice site mutation in the calcium-sensing receptor (CASR) gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Hum. Mutat. 18: 411-421, 2001.
[0028444]19032.De Luca, F.; Ray, K.; Mancilla, E. E.; Fan, G.-F.; Winer, K. K.; Gore, P.; Spiegel, A. M.; Baron, J.: Sporadic hypoparathyroidism caused by de novo gain-of-function mutations of the Ca(2+)-sensing receptor. J. Clin. Endocr. Metab. 82: 2710-2715, 1997.
[0028445]19033.Hendy, G. N.; D'Souza-Li, L.; Yang, B.; Canaff, L.; Cole, D. E. C.: Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. Hum. Mutat. 16: 281-296, 2000.
[0028446]19034.Janicic, N.; Pausova, Z.; Cole, D. E. C.; Hendy, G. N.: Insertion of an Alu sequence in the Ca(2+)-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Am. J. Hum. Genet. 56: 880-886, 1995.
[0028447]19035.Jap, T.-S.; Wu, Y.-C.; Jenq, S.-F.; Won, G.-S.: A novel mutation in the calciumsensing receptor gene in a Chinese subject with persistent hypercalcemia and hypocalciuria. J. Clin. Endocr. Metab. 86: 13-15, 2001.
[0028448]19036.Kobayashi, M.; Tanaka, H.; Tsuzuki, K.; Tsuyuki, M.; Igaki, H.; Ichinose, Y.; Aya, K.; Nishioka, N.; Seino, Y.: Two novel missense mutations in calcium-sensing receptor gene associated with neonatal severe hyperparathyroidism. J. Clin. Endocr. Metab. 82: 2716-2719, 1997.
[0028449]19037.Lienhardt, A.; Bai, M.; Lagarde, J.-P.; Rigaud, M.; Zhang, Z.; Jiang, Y.; Kottler, M.-L.; Brown, E. M.; Garabedian, M.: Activating mutations of the calcium-sensing receptor: management of hypocalcemia. J. Clin. Endocr. Metab. 86: 5313-5323, 2001.
[0028450]19038.Lienhardt, A.; Garabedian, M.; Bai, M.; Sinding, C.; Zhang, Z.; Lagarde, J.-P.; Boulesteix, J.; Rigaud, M.; Brown, E. M.; Kottler, M.-L.: A large homozygous or heterozygous in-frame deletion within the calcium-sensing receptor's carboxylterminal cytoplasmic tail that causes autosomal dominant hypocalcemia. J. Clin. Endocr. Metab. 85: 1695-1702, 2000.
[0028451]19039.Lovlie, R.; Eiken, H. G.; Sorheim, J. I.; Boman, H.: The Ca(2+)-sensing receptor gene (PCAR1) mutation T151M in isolated autosomal dominant hypoparathyroidism. Hum. Genet. 98: 129-133, 1996.
[0028452]19040.Okazaki, R.; Chikatsu, N.; Nakatsu, M.; Takeuchi, Y.; Ajima, M.; Miki, J.; Fujita, T.; Arai, M.; Totsuka, Y.; Tanaka, K.; Fukumoto, S.: A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia. J. Clin. Endocr. Metab. 84: 363-366, 1999.
[0028453]19041.Combadiere, C.; Ahuja, S. K.; Murphy, P. M.: Cloning, chromosomal localization, and RNA expression of a human beta chemokine receptor-like gene. DNA Cell Biol. 14: 673-680, 1995.
[0028454]19042.Combadiere, C.; Ahuja, S. K.; Van Damme, J.; Tiffany, H. L.; Gao, J.-L.; Murphy, P. M.: Monocyte chemoattractant protein-3 is a functional ligand for CC chemokine receptors 1 and 2B. J. Biol. Chem. 270: 29671-29675, 1995.
[0028455]19043.Doranz, B. J.; Rucker, J.; Yi, Y.; Smyth, R. J.; Samson, M.; Peiper, S. C.; Parmentier, M.; Collman, R. G.; Doms, R. W.: A dual-tropic primary HIV-1 isolate that uses fusin and the betachemokine receptors CKR-5, CKR-3, and CKR-2b as fusion cofactors. Cell 85: 1149-1158, 1996.
[0028456]19044.Mummidi, S.; Ahuja, S. S.; Gonzalez, E.; Anderson, S. A.; Santiago, E. N.; Stephan, K. T.; Craig, F. E.; O'Connell, P.; Tryon, V.; Clark, R. A.; Dolan, M. J.; Ahuja, S. K.: Genealogy of the CCR5 locus and chemokine system gene variants associated with altered rates of HIV-1 disease progression. Nature Med. 4: 786-793, 1998.
[0028457]19045.Peters, W.; Dupuis, M.; Charo, I. F.: A mechanism for the impaired IFN-gamma production in C-C chemokine receptor 2 (CCR2) knockout mice: role of CCR2 in linking the innate and adaptive immune responses. J. Immun. 165: 7072-7077, 2000.
[0028458]19046.Peters, W.; Scott, H. M.; Chambers, H. F.; Flynn J. L.; Charo, I. F.; Ernst, J. D.: Chemokine receptor 2 serves an early and essential role in resistance to Mycobacterium tuberculosis. Proc. Nat. Acad. Sci. 98: 7958-7963, 2001.
[0028459]19047.Samson, M.; Labbe, O.; Mollereau, C.; Vassart, G.; Parmentier, M.: Molecular cloning and functional expression of a new human CC-chemokine receptor gene. Biochemistry 35: 3362-3367, 1996.
[0028460]19048.Samson, M.; Soularue, P.; Vassart, G.; Parmentier, M.: The genes encoding the human CC-chemokine receptors CC-CKR1 to CC-CKR5 (CMKBR1-CMKBR5) are clustered in the p21.3-p24 region of chromosome 3. Genomics 36: 522-526, 1996.
[0028461]19049.Sanders, S. K.; Crean, S. M.; Boxer, P. A.; Kellner, D.; LaRosa, G. J.; Hunt, S. W., III.: Functional differences between monocyte chemotactic protein-1 receptor A and monocyte chemotactic protein-1 receptor B expressed in a Jurkat T cell. J. Immun. 165: 4877-4883, 2000.
[0028462]19050.Smith, M. W.; Dean, M.; Carrington, M.; Winkler, C.; Huttley, G. A.; Lomb, D. A.; Goedert, J. J.; O'Brien, T. R.; Jacobson, L. P.; Kaslow, R.; Buchbinder, S.; Vittinghoff, E.; Vlahov, D.; Hoots, K.; Hilgartner, M. W.; Hemophilia Growth and Development Study (HGDS); Multicenter AIDS Cohort Study (MACS); Multicenter Hemophilia Cohort Study (MHCS); San Francisco City Cohort (SFCC); ALIVE Study; O'Brien, S. J.: Contrasting genetic influence of CCR2 and CCR5 variants on HIV-1 infection and disease progression. Science 277: 959-965, 1997.
[0028463]19051.Wong, L.-M.; Myers, S. J.; Tsou, C.-L.; Gosling, J.; Arai, H.; Charo, I. F.: Organization and differential expression of the human monocyte chemoattractant protein 1 receptor gene: evidence for the role of the carboxyl-terminal tail in receptor trafficking. J. Biol. Chem. 272: 1038-1045, 1997.
[0028464]19052.Robertson, N. G.; Khetarpal, U.; Gutierrez-Espeleta, G. A.; Bieber, F. R.; Morton, C. C.: Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening. Genomics 23: 42-50, 1994.
[0028465]19053.Rothschild, C. B.; Freedman, B. I.; Hodge, R.; Rao, P. N.; Pettenati, M. J.; Anderson, R. A.; Akots, G.; Qadri, A.; Roh, B.; Fajans, S. S.; Reis, A.; Morris, D. J.; Usala, A.; Hayward, C.; Brock, D.; Colle, E.; Spray, B. J.; Rich, S. S.; Bowden, D. W.: Fructose-1,6-bisphosphatase: genetic and physical mapping to human chromosome 9q22.3 and evaluation in non-insulin-dependent diabetes mellitus. Genomics 29: 187-194, 1995.
[0028466]19054.Simunovic, M. P.; Regan, B. C.; Mollon, J. D.: Is color vision deficiency an advantage under scotopic conditions? Invest. Ophthal. Vis. Sci. 42: 3357-3364, 2001.
[0028467]19055.Austen, K. F.: Inborn errors of the complement system of man. New Eng. J. Med. 276: 1363-1367, 1967.
[0028468]19056.Austen, K. F.; Becker, E. L.; Bero, C. E.; Borsos, T.; Dalmasso, A. P.; Dias Da Silva, D.: Nomenclature of complement. Bull. WHO 39: 935-938, 1968.
[0028469]19057.Awdeh, Z. L.; Raum, D. D.; Glass, D.; Agnello, V.; Schur, P. H.; Johnston, R. B., Jr.; Gelfand, E. W.; Ballow, M.; Yunis, E.; Alper, C. A.: Complement-human histocompatibility antigen haplotypes in C2 deficiency. J. Clin. Invest. 67: 581-583, 1981.
[0028470]19058.Belin, D. C.; Bordwell, B. J.; Einarson, M. E.; McLean, R. H.; Weinstein, A.; Yunis, E. J.; Rothfield, N. F.: Familial discoid lupus erythematosus associated with heterozygote C2 deficiency. Arthritis Rheum. 23: 898-903, 1980.
[0028471]19059.Bentley, D. R.: Primary structure of human complement component C2: homology to two unrelated protein families. Biochem. J. 239: 339-345, 1986.
[0028472]19060.Bentley, D. R.; Porter, R. R.: Isolation of cDNA clones for human complement component C2. Proc. Nat. Acad. Sci. 81: 1212-1215, 1984.
[0028473]19061.Bottger, E. C.; Hoffmann, T.; Hadding, U.; Bitter-Suermann, D. : Guinea pigs with inherited deficiencies of complement components C2 or C4 have characteristics of immune complex disease. J. Clin. Invest. 78: 689-695, 1986.
[0028474]19062.Callen, J. P.; Hodge, S. J.; Kulick, K. B.; Stelzer, G.; Buchino, J. J.: Subacute cutaneous lupus erythematosus in multiple members of a family with C2 deficiency. Arch. Derm. 123: 66-70, 1987.
[0028475]19063.Cole, F. S.; Whitehead, A. S.; Auerbach, H. S.; Lint, T.; Zeitz, H. J.; Kilbridge, P.; Colten, H. R.: The molecular basis for genetic deficiency of the second component of human complement. New Eng. J. Med. 313: 11-16, 1985.
[0028476]19064.Donald, L. J.; Wang, H. S.; Hamerton, J. L.: Assignment of the gene for cystathionase (CYS) to human chromosome 16. (Abstract) Cytogenet. Cell Genet. 32: 268 only, 1982.
[0028477]19065.Frimpter, G. W.: Cystathioninuria: nature of the defect. Science 149: 1095-1096, 1965.
[0028478]19066.Frimpter, G. W.: Cystathioninuria, sulfite oxidase deficiency, and 'betamercaptolactate-cysteine disulfiduria.In: Stanbury, J. B.; Wyngaarden, J. B.; Fredrickson, D. S.: The Metabolic Basis of Inherited Disease. New York: McGraw-Hill (pub.) (3rd ed.): 1972. Pp. 413-425.
[0028479]19067.Frimpter, G. W.; Haymovitz, A.; Horwith, M.: Cystathioninuria. New Eng. J. Med. 268: 333-339, 1963.
[0028480]19068.Harris, H.; Penrose, L. S.; Thomas, D. H. H.: Cystathioninuria. Ann. Hum. Genet. 23: 442-453, 1959.
[0028481]19069.Lu, Y.; O'Dowd, B. F.; Orrego, H.; Israel, Y.: Cloning and nucleotide sequence of human liver cDNA encoding for cystathionine gamma-lyase. Biochem. Biophys. Res. Commun. 189: 749-758, 1992.
[0028482]19070.Lyon, I. C. T.; Procopis, P. G.; Turner, B.: Cystathioninuria in a well baby population. Acta Paediat. Scand. 60: 324-328, 1971.
[0028483]19071.Mongeau, J.-G.; Hilgartner, M.; Worthen, H. G.; Frimpter, G. W. : Cystathioninuria: study of an infant with normal mentality, thrombocytopenia, and renal calculi. J. Pediat. 69: 1113-1120, 1967.
[0028484]19072.Pascal, T. A.; Gaull, G. E.; Beratis, N. G.; Gillam, B. M.; Tallan, H. H.: Cystathionase deficiency: evidence for genetic heterogeneity in primary cystathioninuria. Pediat. Res. 12: 125-133, 1978.
[0028485]19073.Perry, T. L.; Hardwick, D. F.; Hansen, S.; Love, D. L.; Israels, S.: Cystathioninuria in two healthy siblings. New Eng. J. Med. 278: 590-592, 1968.
[0028486]19074.Schneiderman, L. J.: Latent cystathioninuria. J. Med. Genet. 4: 260-263, 1967.
[0028487]19075.Scott, C. R.; Dassell, S. W.; Clark, S. H.; Chiang-Teng, C.; Swedberg, K. R.: Cystathioninemia: a benign genetic condition. J. Pediat. 76: 571-577, 1970.
[0028488]19076.Shaw, K. N. F.; Lieberman, E.; Koch, R.; Donnell, G. N.: Cystathioninuria. Am. J. Dis. Child. 113: 119-128, 1967.
[0028489]19077.Tada, K.; Yoshida, T.; Yokoyama, Y.; Sato, T.; Nakagawa, H.; Arakawa, T.: Cystathioninuria not associated with vitamin B6 dependency: a probably new type of cystathioninuria. Tohoku J. Exp. Med. 95: 235-242, 1968.
[0028490]19078.Whelan, D. T.; Scriver, C. R.: Cystathioninuria and renal iminoglycinuria in a pedigree: a perspective on counseling. New Eng. J. Med. 278: 924-927, 1968.
[0028491]19079.Abeliovich, D.; Lavon, I. P.; Lerer, I.; Cohen, T.; Springer, C.; Avital, A.; Cutting, G. R.: Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population. Am. J. Hum. Genet. 51: 951-956, 1992.
[0028492]19080.Hobart, M. J.; Joysey, V.; Lachmann, P. J.: Inherited structural variation and linkage relationships of C7. J. Immunogenet. 5: 157-163, 1978.
[0028493]19081.Jeremiah, S. J.; Abbott, C. M.; Murad, Z.; Povey, S.; Thomas, H. J.; Solomon, E.; DiScipio, R. G.; Fey, G. H.: The assignment of the genes coding for human complement components C6 and C7 to chromosome 5. Ann. Hum. Genet. 54: 141-147, 1990.
[0028494]19082.Schulpis, K. H.; Papaconstantinou, E. D.; Koidou, A.; Michelakakis, H.; Tzamouranis, J.; Patsouras, A.; Shin, Y.: UDP galactose-4-epimerase deficiency in a 5.5-year-old girl with a unilateral cataract. J. Inherit. Metab. Dis. 16: 903-904, 1993.
[0028495]19083.Thoden, J. B.; Wohlers, T. M.; Fridovich-Keil, J. L.; Holden, H. M.: Molecular basis for severe epimerase deficiency galactosemia: x-ray structure of the human V94M-substituted UDPgalactose 4-epimerase. J. Biol. Chem. 276: 20617-20623, 2001.
[0028496]19084.Wohlers, T. M.; Christacos, N. C.; Harreman, M. T.; Fridovich-Keil, J. L.: Identification and characterization of a mutation, in the human UDP-galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia. Am. J. Hum. Genet. 64: 462-470, 1999.
[0028497]19085.Cheadle, J.; Al-Jader, L.; Goodchild, M.; Meredith, A. L.: Mild pulmonary disease in a cystic fibrosis child homozygous for R553X. J. Med. Genet. 29: 597, 1992.
[0028498]19086.Cheadle, J. P.; Meredith, A. L.; Al-Jader, L. N.: A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator gene. Hum. Molec. Genet. 1: 123-125, 1992.
[0028499]19087.Colledge, W. H.; Abella, B. S.; Southern, K. W.; Ratcliff, R.; Jiang, C.; Cheng, S. H.; MacVinish, L. J.; Anderson, J. R.; Cuthbert, A. W.; Evans, M. J.: Generation and characterisation of a delta-F508 cystic fibrosis mouse model. Nature Genet. 10: 445-452, 1995.
[0028500]19088.Haworth, J. C.; Gourley, B.; Hadorn, B.; Sumida, C.: Malabsorption and growth failure due to intestinal enterokinase deficiency. J. Pediat. 78: 481-490, 1971.
[0028501]19089.Haworth, J. C.; Hadorn, B.; Gourley, B.; Prasad, A.; Troesch, V. : Intestinal enterokinase deficiency: occurrence in two sibs and age dependency of clinical expression. Arch. Dis. Child. 50: 277-282, 1975.
[0028502]19090.Holzinger, A.; Maier, E. M.; Buck, C.; Mayerhofer, P. U.; Kappler, M.; Haworth, J. C.; Moroz, S. P.; Hadorn, H.-B.; Sadler, J. E.; Roscher, A. A.: Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiency. Am. J. Hum. Genet. 70: 20-25, 2002.
[0028503]19091.DiGeorge, A. M.; Harley, R. D. L.: The association of aniridia, Wilms tumor and genital abnormalities. Arch. Ophthal. 75: 796-798, 1966.
[0028504]19092.Dressler, G. R.; Douglass, E. C.: Pax-2 is a DNA-binding protein expressed in embryonic kidney and Wilms tumor. Proc. Nat. Acad. Sci. 89: 1179-1183, 1992.
[0028505]19093.Fearon, E. R.; Vogelstein, B.; Feinberg, A. P.: Somatic deletion and duplication of genes on chromosome 11 in Wilms' tumours. Nature 309: 176-178, 1984.
[0028506]19094.Fitzgerald, W. L.; Hardin, H. C., Jr.: Bilateral Wilms' tumor in a Wilms tumor family: case report. J. Urol. 73: 468-474, 1955.
[0028507]19095.Francke, U.: A gene for Wilms tumour? Nature 343: 692-694, 1990.
[0028508]19096.Francke, U.; Holmes, L. B.; Atkins, L.; Riccardi, V. M.: Aniridia-Wilms' tumor association: evidence for specific deletion of 11p13. Cytogenet. Cell Genet. 24: 185-192, 1979.
[0028509]19097.Francke, U.; Riccardi, V. M.; Hittner, H. M.; Borges, W.: Interstitial del(11p) as a cause of the aniridia-Wilms tumor association: band localization and a heritable basis. (Abstract) Am. J. Hum. Genet. 30: 81A, 1978.
[0028510]19098.Fraumeni, J. F., Jr.; Glass, A. G.: Wilms' tumor and congenital aniridia. J.A.M.A. 206: 825-828, 1968.
[0028511]19099.Haber, D. A.; Buckler, A. J.; Glaser, T.; Call, K. M.; Pelletier, J.; Sohn, R. L.; Douglass, E. C.; Housman, D. E.: An internal deletion within an 11p13 zinc finger gene contributes to the development of Wilms' tumor. Cell 61: 1257-1269, 1990.
[0028512]19100.Haber, D. A.; Park, S.; Maheswaran, S.; Englert, C.; Re, G. G.; Hazen-Martin, D. J.; Sens, D. A.; Garvin, A. J.: WT1-mediated growth suppression of Wilms tumor cells expressing a WT1 splicing variant. Science 262: 2057-2059, 1993.
[0028513]19101.Haber, D. A.; Timmers, H. T. M.; Pelletier, J.; Sharp, P. A.; Housman, D. E.: A dominant mutation in the Wilms tumor gene WT1 cooperates with the viral oncogene E1A in transformation of primary kidney cells. Proc. Nat. Acad. Sci. 89: 6010-6014, 1992.
[0028514]19102.Haning, R. V., Jr.; Chesney, R. W.; Moorthy, A. V.; Gilbert, E. F.: A syndrome of chronic renal failure and XY gonadal dysgenesis in young phenotypic females without genital ambiguity. Am. J. Kidney Dis. 6: 40-48, 1985.
[0028515]19103.Hastie, N. D.: Dominant negative mutations in the Wilms tumour (WT1) gene cause Denys-Drash syndrome--proof that a tumour-suppressor gene plays a crucial role in normal genitourinary development. Hum. Molec. Genet. 1: 293-295, 1992.
[0028516]19104.Huff, V.; Meadows, A.; Riccardi, V. M.; Strong, L. C.; Saunders, G. F.: Parental origin of de novo constitutional deletions of chromosomal band 11p13. Am. J. Hum. Genet. 47: 155-160, 1990.
[0028517]19105.Jeanpierre, C.; Antignac, C.; Beroud, C.; Lavedan, C.; Henry, I.; Saunders, G.; Williams, B.; Glaser, T.; Junien, C.: Constitutional and somatic deletions of two different regions of maternal chromosome 11 in Wilms tumor. Genomics 7: 434-438, 1990.
[0028518]19106.Jolles, B.: Wilms' tumor in father and son. Lancet I: 207, 1973.
[0028519]19107.Juberg, R. C.; St. Martin, E. C.; Hundley, J. R.: Familial occurrence of Wilms's tumor: nephroblastoma in one of monozygous twins and in another sibling. Am. J. Hum. Genet. 27: 155-169, 1975.
[0028520]19108.Junien, C.; Huerre, C.; Despoisse, S.; Gilgenkrantz, S.; Lenoir, G. M.: c-Ha-ras1 is not deleted in del (11p13) Wilms' tumor (WAGR) and maps to 11p15.1-11p15.5. (Abstract) Cytogenet. Cell Genet. 37: 503, 1984.
[0028521]19109.Junien, C.; Turleau, C.; de Grouchy, J.; Said, R.; Rethore, M.-O.; Tenconi, R.; Dufier, J. L.: Regional assignment of catalase (CAT) gene to band 11p13: association with the aniridia-Wilms' tumor-gonadoblastoma (WAGR) complex. Ann. Genet. 23: 165-168, 1980.
[0028522]19110.Kakati, S.; Xiao, H.; Siddiqui, S. Y.; Sreekantaiah, C.; Weier, H.-U. G.; Green, D. M.; Fisher, J. E.; Allen, J. E.: Constitutional extra chromosomal element in a family with Wilms' tumor. Hum. Genet. 87: 183-188, 1991.
[0028523]19111.Kaneko, Y.; Celida Egues, M.; Rowley, J. D.: Interstitial deletion of short arm of chromosome 11 limited to Wilms' tumor cells in a patient without aniridia. Cancer Res. 41: 4577-4578, 1981.
[0028524]19112.Kaufman, R. L.; Vietti, T. J.; Wabner, C. I.: Wilms' tumor in father and son. Lancet I: 43, 1973.
[0028525]19113.Kinberg, J. A.; Angle, C. R.; Wilson, R. B.: Nephropathy-gonadal dysgenesis, type 2: renal failure in three siblings with XY dysgenesis in one. Am. J. Kidney Dis. 9: 507-510, 1987.
[0028526]19114.Knudson, A. G., Jr.; Strong, L. C.: Mutation and cancer: a model for Wilms' tumor of the kidney. J. Nat. Cancer Inst. 48: 313-324, 1972.
[0028527]19115.Knudson, A. G., Jr.; Strong, L. C.: Familial Wilms's tumor. (Letter) Am. J. Hum. Genet. 27: 809-810, 1975.
[0028528]19116.Kolata, G. B.: Genes and cancer: the story of Wilms tumor. Science 207: 970-971, 1980.
[0028529]19117.Kontras, S. B.; Newton, W. A., Jr.: Familial Wilms' tumor. Birth Defects Orig. Art. Ser. X(4): 187-188, 1974.
[0028530]19118.Koufos, A.; Hansen, M. F.; Lampkin, B. C.; Workman, M. L.; Copeland, N. G.; Jenkins, N. A.; Cavenee, W. K.: Loss of alleles at loci on human chromosome 11 during genesis of Wilms' tumour. Nature 309: 170-172, 1984.
[0028531]19119.Kozman, H. M.; Clarke, J. M.; Little, M. H.; Smith, P. J.: Molecular genetic evidence for common pathogenesis of childhood and adult Wilms' tumor. Cancer Genet. Cytogenet. 38: 121-125, 1989.
[0028532]19120.Kumar, S.; Harrison, C. J.; Heighway, J.; Marsden, H. B.; West, D. C.; Jones, P. M.: A cell line from Wilms' tumour with deletion in short arm of chromosome 11. Int. J. Cancer 40: 499-504, 1987.
[0028533]19121.Ladda, R. L.; Atkins, L.; Littlefield, J.: Computer-assisted analysis of chromosomal abnormalities: detection of a deletion in aniridia Wilms' tumor syndrome. Science 185: 784-787, 1974.
[0028534]19122.Berx, G.; Staes, K.; van Hengel, J.; Molemans, F.; Bussemakers, M. J. G.; van Bokhoven, A.; van Roy, F.: Cloning and characterization of the human invasion suppressor gene Ecadherin (CDH1). Genomics 26: 281-289, 1995.
[0028535]19123.Boggon, T. J.; Murray, J.; Chappuis-Flament, S.; Wong, E.; Gumbiner, B. M.; Shapiro, L.: C-cadherin ectodomain structure and implications for cell adhesion mechanisms. Science 296: 1308-1313, 2002.
[0028536]19124.Cano, A.; Perez-Moreno, M. A.; Rodrigo, I.; Locascio, A.; Blanco, M. J.; del Barrio, M. G.; Portillo, F.; Nieto, M. A.: The transcription factor Snail controls epithelial-mesenchymal transitions by repressing E-cadherin expression. Nature Cell Biol. 2: 76-83, 2000.
[0028537]19125.Ceccherini, I.; Romeo, G.; Lawrence, S.; Breuning, M. H.; Harris, P. C.; Himmelbauer, H.; Frischauf, A. M.; Sutherland, G. R.; Germino, G. G.; Reeders, S. T.; Morton, N. E.: Construction of a map of chromosome 16 by using radiation hybrids. Proc. Nat. Acad. Sci. 89: 104-108, 1992.
[0028538]19126.Chun, Y. S.; Lindor, N. M.; Smyrk, T. C.; Petersen, B. T.; Burgart, L. J.; Guilford, P. J.; Donohue, J. H.: Germline E-cadherin gene mutations: is prophylactic total gastrectomy indicated? Cancer 92: 181-187, 2001.
[0028539]19127.Eistetter, H. R.; Adolph, S.; Ringwald, M.; Simon-Chazottes, D.; Schuh, R.; Guenet, J. L.; Kemler, R.: Chromosomal mapping of the structural gene coding for the mouse cell adhesion molecule uvomorulin. Proc. Nat. Acad. Sci. 85: 3489-3493, 1988.
[0028540]19128.Gayther, S. A.; Gorringe, K. L.; Ramus, S. J.; Huntsman, D.; Roviello, F.; Grehan, N.; Machado, J. C.; Pinto, E.; Seruca, R.; Halling, K.; MacLeod, P.; Powell, S. M.; Jackson, C. E.; Ponder, B. A. J.; Caldas, C.: Identification of germ-line E-cadherin mutations in gastric cancer families of European origin. Cancer Res. 58: 4086-4089, 1998.
[0028541]19129.Grady, W. M.; Willis, J.; Guilford, P. J.; Dunbier, A. K.; Toro, T. T.; Lynch, H.; Wiesner, G.; Ferguson, K.; Eng, C.; Park, J.-G.; Kim, S.-J.; Markowitz, S.: Methylation of the CDH1 promoter as the second genetic hit in hereditary diffuse gastric cancer. Nature Genet. 26: 16-17, 2000.
[0028542]19130.Humar, B.; Toro, T.; Graziano, F.; Muller, H.; Dobbie, Z.; Kwang-Yang, H.; Eng, C.; Hampel, H.; Gilbert, D.; Winship, I.; Parry, S.; Ward, R.; Findlay, M.; Christian, A.; Tucker, M.; Tucker, K.; Merriman, T.; Guilford, P.: Novel germline CDH1 mutations in hereditary diffuse gastric cancer families. Hum. Mutat. 19: 518-525, 2002.
[0028543]19131.Ilyas, M.; Tomlinson, I. P. M.; Hanby, A.; Talbot, I. C.; Bodmer, W. F.: Allele loss, replication errors and loss of expression of E-cadherin in colorectal cancers. Gut 40: 654-659, 1997.
[0028544]19132.Jones, E. G.: Familial gastric cancer. New Zealand Med. J. 63: 287-296, 1964.
[0028545]19133.Lecuit, M.; Dramsi, S.; Gottardi, C.; Fedor-Chaiken, M.; Gumbiner, B.; Cossart, P.: A single amino acid in E-cadherin responsible for host specificity towards the human pathogen Listeria monocytogenes. EMBO J. 18: 3956-3963, 1999.
[0028546]19134.Guilford, P. J.; Hopkins, J. B. W.; Grady, W. M.; Markowitz, S. D.; Willis, J.; Lynch, H.; Rajput, A.; Wiesner, G. L.; Lindor, N. M.; Burgart, L. J.; Toro, T. T.; Lee, D.; Limacher, J.-M.; Shaw, D. W.; Findlay, M. P. N.; Reeve, A. E.: E-cadherin germline mutations define an inherited cancer syndrome dominated by diffuse gastric cancer. Hum. Mutat. 14: 249-255, 1999.
[0028547]19135.Lecuit, M.; Vandormael-Pournin, S.; Lefort, J.; Huerre, M.; Gounon, P.; Dupuy, C.; Babinet, C.; Cossart, P.: A transgenic model for listeriosis: role of internalin in crossing the intestinal barrier. Science 292: 1722-1725, 2001.
[0028548]19136.Lorber, B.: Listeriosis. Clin. Infect. Dis. 24: 1-11, 1997.
[0028549]19137.Lynch, H. T.; Grady, W.; Lynch, J. F.; Tsuchiya, K. D.; Wiesner, G.; Markowitz, S. D.: E-cadherin mutation-based genetic counseling and hereditary diffuse gastric carcinoma. Cancer Genet. Cytogenet. 122: 1-6, 2000.
[0028550]19138.Mansouri, A.; Goodfellow, P. N.; Kemler, R.: Molecular cloning and chromosomal localization of the human cell adhesion molecule uvomorulin (UVO). (Abstract) Cytogenet. Cell Genet. 46: 655, 1987.
[0028551]19139.Mansouri, A.; Spurr, N.; Goodfellow, P. N.; Kemler, R.: Characterization and chromosomal localization of the gene encoding the human cell adhesion molecule uvomorulin. Differentiation 38: 67-71, 1988.
[0028552]19140.Natt, E.; Magenis, R. E.; Zimmer, J.; Mansouri, A.; Scherer, G. : Regional assignment of the human loci for uvomorulin (UVO) and chymotrypsinogen B (CTRB) with the help of two overlapping deletions on the long arm of chromosome 16. Cytogenet. Cell Genet. 50: 145-148, 1989.
[0028553]19141.Oda, T.; Kanai, Y.; Oyama, T.; Yoshiura, K.; Shimoyama, Y.; Birchmeier, W.; Sugimura, T.; Hirohashi, S.: E-cadherin gene mutations in human gastric carcinoma cell lines. Proc. Nat. Acad. Sci. 91: 1858-1862, 1994.
[0028554]19142.Oliveira, C.; Bordin, M. C.; Grehan, N.; Huntsman, D.; Suriano, G.; Machado, J. C.; Kiviluoto, T.; Aaltonen, L.; Jackson, C. E.; Seruca, R.; Caldas, C.: Screening E-cadherin in gastric cancer families reveals germline mutations only in hereditary diffuse gastric cancer kindred. Hum. Mutat. 19: 510-517, 2002.
[0028555]19143.Overduin, M.; Harvey, T. S.; Bagby, S.; Tong, K. I.; Yau, P.; Takeichi, M.; Ikura, M.: Solution structure of the epithelial cadherin domain responsible for selective cell adhesion. Science 267: 386-389, 1995.
[0028556]19144.Perl, A.-K.; Wilgenbus, P.; Dahl, U.; Semb, H.; Christofori, G. : A causal role for Ecadherin in the transition from adenoma to carcinoma. Nature 392: 190-193, 1998.
[0028557]19145.Joenje, H.: Fanconi anaemia complementation groups in Germany and The Netherlands. Hum. Genet. 97: 280-282, 1996.
[0028558]19146.Joenje, H.; Oostra, A. B.; Wijker, M.; di Summa, F. M.; van Berkel, C. G. M.; Rooimans, M. A.; Ebell, W.; van Weel, M.; Pronk, J. C.; Buchwald, M.; Arwert, F.: Evidence for at least eight Fanconi anemia genes. Am. J. Hum. Genet. 61: 940-944, 1997.
[0028559]19147.Rassool, F. V.; Le Beau, M. M.; Shen, M.-L.; Neilly, M. E.; Espinosa, R., III; Ong, S. T.; Boldog, F.; Drabkin, H.; McCarroll, R.; McKeithan, T. W.: Direct cloning of DNA sequences from the common fragile site region at chromosome band 3p14.2. Genomics 35: 109-117, 1996.
[0028560]19148.Rudduck, C.; Franzen, G.: A new heritable fragile site on human chromosome 3. Hereditas 98: 297-299, 1983.
[0028561]19149.Shi, Y.; Zou, M.; Farid, N. R.; Paterson, M. C.: Association of FHIT (fragile histidine triad), a candidate tumour suppressor gene, with the ubiquitin-conjugating enzyme hUBC9. Biochem. J. 352: 443-448, 2000.
[0028562]19150.Shiraishi, T.; Druck, T.; Mimori, K.; Flomenberg, J.; Berk, L.; Alder, H.; Miller, W.; Huebner, K.; Croce, C. M.: Sequence conservation at human and mouse orthologous common fragile regions, FRA3B/FHIT and Fra14A2/Fhit. Proc. Nat. Acad. Sci. 98: 5722-5727, 2001.
[0028563]19151.Sozzi, G.; Veronese, M. L.; Negrini, M.; Baffa, R.; Cotticelli, M. G.; Inoue, H.; Tornielli, S.; Pilotti, S.; De Gregorio, L.; Pastorino, U.; Pierotti, M. A.; Ohta, M.; Huebner, K.; Croce, C. M.: The FHIT gene at 3p14.2 is abnormal in lung cancer. Cell 85: 17-26, 1996.
[0028564]19152.Stein, C. K.; Glover, T. W.; Palmer, J. L.; Glisson, B. S.: Direct correlation between FRA3B expression and cigarette smoking. Genes Chromosomes Cancer 34: 333-340, 2002.
[0028565]19153.Virgilio, L.; Shuster, M.; Gollin, S. M.; Veronese, M. L.; Ohta, M.; Huebner, K.; Croce, C. M.: FHIT gene alterations in head and neck squamous cell carcinomas. Proc. Nat. Acad. Sci. 93: 9770-9775, 1996.
[0028566]19154.Wegner, R.-D.: A new inducible fragile site on chromosome 3 (p14.2) in human lymphocytes. Hum. Genet. 63: 297-298, 1983.
[0028567]19155.Wegner, R.-D.: Reply to the letter of A. Markkanen, S. Knuutila, and A. de la Chapelle. (Letter) Hum. Genet. 65: 218 only, 1983.
[0028568]19156.Zanesi, N.; Fidanza, V.; Fong, L. Y.; Mancini, R.; Druck, T.; Valtieri, M.; Rudiger, T.; McCue, P. A.; Croce, C. M.; Huebner, K. : The tumor spectrum in FHIT-deficient mice. Proc. Nat. Acad. Sci. 98: 10250-10255, 2001.
[0028569]19157.Nagase, T.; Seki, N.; Ishikawa, K.; Ohira, M.; Kawarabayasi, Y.; Ohara, O.; Tanaka, A.; Kotani, H.; Miyajima, N.; Nomura, N.: Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. DNA Res. 3: 321-329, 1996.
[0028570]19158.Lee, E.; Marcucci, M.; Daniell, L.; Pypaert, M.; Weisz, O. A.; Ochoa, G.-C.; Farsad, K.; Wenk, M. R.; De Camilli, P.: Amphiphysin 2 (Bin1) and T-tubule biogenesis in muscle. Science 297: 1193-1196, 2002.
[0028571]19159.Negorev, D.; Riethman, H.; Wechsler-Reya, R.; Sakamuro, D.; Prendergast, G. C.; Simon, D.: The Bin1 gene localizes to human chromosome 2q14 by PCR analysis of somatic cell hybrids and fluorescence in situ hybridization. Genomics 33: 329-331, 1996.
[0028572]19160.Sakamuro, D.; Elliott, K. J.; Wechsler-Reya, R.; Prendergast, G. C.: BIN1 is a novel MYC-interacting protein with features of a tumour suppressor. Nature Genet. 14: 69-77, 1996.
[0028573]19161.Endo, Y.; Sato, Y.; Matsushita, M.; Fujita, T.: Cloning and characterization of the human lectin P35 gene and its related gene. Genomics 36: 515-521, 1996.
[0028574]19162.Betz, R. C.; Schoser, B. G. H.; Kasper, D.; Ricker, K.; Ramirez, A.; Stein, V.; Torbergsen, T.; Lee, Y.-A.; Nothen, M. M.; Wienker, T. F.; Malin, J.-P.; Propping, P.; Reis, A.; Mortier, W.; Jentsch, T. J.; Vorgerd, M.; Kubisch, C.: Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. Nature Genet. 28: 218-219, 2001.
[0028575]19163.Drumheller, T.; McGillivray, B. C.; Behrner, D.; MacLeod, P.; McFadden, D. E.; Roberson, J.; Venditti, C.; Chorney, K.; Chorney, M.; Smith, D. I.: Precise localisation of 3p25 breakpoints in four patients with the 3p- syndrome. J. Med. Genet. 33: 842-847, 1996.
[0028576]19164.Galbiati, F.; Volonte, D.; Chu, J. B.; Li, M.; Fine, S. W.; Fu, M.; Bermudez, J.; Pedemonte, M.; Weidenheim, K. M.; Pestell, R. G.; Minetti, C.; Lisanti, M. P.: Transgenic overexpression of caveolin-3 in skeletal muscle fibers induces a Duchenne-like muscular dystrophy phenotype. Proc. Nat. Acad. Sci. 97: 9689-9694, 2000.
[0028577]19165.Wayne, S.; Robertson, N. G.; DeClau, F.; Chen, N.; Verhoeven, K.; Prasad, S.; Tranebjarg, L.; Morton, C. C.; Ryan, A. F.; Van Camp, G.; Smith, R. J. H.: Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus. Hum. Molec. Genet. 10: 195-200, 2001.
[0028578]19166.Kanai, Y.; Miura, K.; Uehara, T.; Amagai, M.; Takeda, O.; Tanuma, S.; Kurosawa, Y.: Natural occurrence of Nuc in the sera of autoimmune-prone MRL/lpr mice. Biochem. Biophys. Res. Commun. 196: 729-736, 1993.
[0028579]19167.Miura, K.; Hirai, M.; Kanai, Y.; Kurosawa, Y.: Organization of the human gene for nucleobindin (NUC) and its chromosomal assignment to 19q13.2-q13.4. Genomics 34: 181-186, 1996.
[0028580]19168.Miura, K.; Titani, K.; Kurosawa, Y.; Kanai, Y.: Molecular cloning of nucleobindin, a novel DNA-binding protein that contains both a signal peptide and a leucine zipper structure. Biochem. Biophys. Res. Commun. 187: 375-380, 1992.
[0028581]19169.Brewer, G.: Personal Communication. Winston-Salem, N.C. 3/4/1999.
[0028582]19170.Brewer, G.: An A+U-rich element RNA-binding factor regulates c-myc mRNA stability in vitro. Molec. Cell. Biol. 11: 2460-2466, 1991.
[0028583]19171.Dempsey, L. A.; Li, M.; DePace, A.; Bray-Ward, P.; Maizels, N. : The human HNRPD locus maps to 4q21 and encodes a highly conserved protein. Genomics 49: 378-384, 1998.
[0028584]19172.Wagner, B. J.; DeMaria, C. T.; Sun, Y.; Wilson, G. M.; Brewer, G.: Structure and genomic organization of the human AUF1 gene: alternative pre-mRNA splicing generates four protein isoforms. Genomics 48: 195-202, 1998.
[0028585]19173.Wagner, B. J.; Long, L.; Rao, P. N.; Pettenati, M. J.; Brewer, G.: Localization and physical mapping of genes encoding the A+U-rich element RNA-binding protein AUF1 to human chromosomes 4 and X. Genomics 34: 219-222, 1996.
[0028586]19174.Zhang, W.; Wagner, B. J.; Ehrenman, K.; Schaefer, A. W.; DeMaria, C. T.; Crater, D.; DeHaven, K.; Long, L.; Brewer, G.: Purification, characterization and cDNA cloning of an AU-rich element RNA-binding protein, AUF1. Molec. Cell. Biol. 13: 7652-7665, 1993.
[0028587]19175.Connelly, M. A.; Grady, R. C.; Mushinski, J. F.; Marcu, K. B.: PANG, a gene encoding a neuronal glycoprotein, is ectopically activated by intracisternal A-type particle long terminal repeats in murine plasmacytomas. Proc. Nat. Acad. Sci. 91: 1337-1341, 1994.
[0028588]19176.Mock, B. A.; Connelly, M. A.; McBride, O. W.; Kozak, C. A.; Marcu, K. B.: Plasmacytoma-associated neuronal glycoprotein, Pang, maps to mouse chromosome 6 and human chromosome 3. Genomics 34: 226-228, 1996.
[0028589]19177.Bolino, A.; Seri, M.; Caroli, F.; Eubanks, J.; Srinivasan, J.; Mandich, P.; Schenone, A.; Quattrone, A.; Romeo, G.; Catterall, W. A.; Devoto, M.: Exclusion of the SCN2B gene as candidate for CMT4B. Europ. J. Hum. Genet. 6: 629-634, 1998.
[0028590]19178.Eubanks, J.; Srinivasan, J.; Dinulos, M. B.; Disteche, C. M.; Catterall, W. A.: Structure and chromosomal localization of the beta2 subunit of the human brain sodium channel. Neuroreport 8: 2775-2779, 1997.
[0028591]19179.Imai, K.; Kingsley, D. M.: Mouse chromosome 9. Mammalian Genome 5: S139-S153, 1994.
[0028592]19180.Noben-Trauth, K.; Copeland, N. G.; Gilbert, D. J.; Jenkins, N. A.; Sonoda, G.; Testa, J. R.; Klempnauer, K.-H.: Mybl2 (Bmyb) maps to mouse chromosome 2 and human chromosome 20q13.1. Genomics 35: 610-612, 1996.
[0028593]19181.Ando, A.; Kikuti, Y. Y.; Shigenari, A.; Kawata, H.; Okamoto, N.; Shiina, T.; Chen, L.; Ikemura, T.; Abe, K.; Kimura, M.; Inoko, H. : cDNA cloning of the human homologues of the mouse Ke4 and Ke6 genes at the centromeric end of the human MHC region. Genomics 35: 600-602, 1996.
[0028594]19182.Aziz, N.; Maxwell, M. M.; Brenner, B. M.: Coordinate regulation of 11-beta-HSD and Ke6 gene in cpk mouse: implications for steroid metabolic defect in PKD. Am. J. Physiol. 267: F791-F797, 1994.
[0028595]19183.Aziz, N.; Maxwell, M. M.; St.-Jacques, B.; Brenner, B. M.: Downregulation of Ke 6, a novel gene encoded within the major histocompatibility complex, in murine polycystic kidney disease. Molec. Cell. Biol. 13: 1847-1853, 1993.
[0028596]19184.Kikuti, Y. Y.; Tamiya, G.; Ando, A.; Chen, L.; Kimura, M.; Ferreira, E.; Tsuji, K.; Trowsdale, J.; Inoko, H.: Physical mapping 220 kb centromeric of the human MHC and DNA sequence analysis of the 43-kb segment including the RING1, HKE6, and HKE4 genes. Genomics 42: 422-435, 1997.
[0028597]19185.Macalma, T.; Otte, J.; Hensler, M. E.; Bockholt, S. M.; Louis, H. A.; Kalff-Suske, M.; Grzeschik, K.-H.; von der Ahe, D.; Beckerle, M. C.: Molecular characterization of human zyxin. J. Biol. Chem. 271: 31470-31478, 1996.
[0028598]19186.Zumbrunn, J.; Trueb, B.: Assignment of the ZYX gene for the LIM protein zyxin to human chromosome bands 7q34-q35 by in situ hybridization. Cytogenet. Cell Genet. 81: 283-284, 1998.
[0028599]19187.Jacobsen, L.; Madsen, P.; Moestrup, S. K.; Lund, A. H.; Tommerup, N.; Nykjaer, A.; Sottrup-Jensen, L.; Gliemann, J.; Petersen, C. M. : Molecular characterization of a novel human hybridtype receptor that binds the alpha(2)-macroglobulin receptor-associated protein. J. Biol. Chem. 271: 31379-31383, 1996.
[0028600]19188.Senechal, K.; Halpern, J.; Sawyers, C. L.: The CRKL adaptor protein transforms fibroblasts and functions in transformation by the BCR-ABL oncogene. J. Biol. Chem. 38: 23255-23261, 1996.
[0028601]19189.ten Hoeve, J.; Morris, C.; Heisterkamp, N.; Groffen, J.: Isolation and chromosomal localization of CRKL, a human crk-like gene. Oncogene 8: 2469-2474, 1993.
[0028602]19190.Cheung, A. H.; Stewart, R. J.; Marsden, P. A.: Endothelial Tie2/Tek ligands angiopoietin-1 (ANGPT1) and angiopoietin-2 (ANGPT2): regional localization of the human genes to 8q22.3-q23 and 8p23. Genomics 48: 389-391, 1998.
[0028603]19191.Davis, S.; Aldrich, T. H.; Jones, P. F.; Acheson, A.; Compton, D. L.; Jain, V.; Ryan, T. E.; Bruno, J.; Radziejewski, C.; Maisonpierre, P. C.; Yancopoulos, G. D.: Isolation of angiopoietin-1, a ligand for the TIE2 receptor, by secretion-trap expression cloning. Cell 87: 1161-1169, 1996.
[0028604]19192.Folkman, J.; D'Amore, P. A.: Blood vessel formation: what is its molecular basis? Cell 87: 1153-1155, 1996.
[0028605]19193.Marziliano, N.; Crovella, S.; Audero, E.; Pecile, V.; Bussolino, F.; Amoroso, A.; Garagna, S.: Genetic mapping of the mouse homologue of the human angiopoietin-1 gene (Agpt) to mouse chromosome 9E2 by in situ hybridization. Cytogenet. Cell Genet. 87: 199-200, 1999.
[0028606]19194.Sato, T. N.; Tozawa, Y.; Deutsch, U.; Wolburg-Buchholz, K.; Fujiwara, Y.; Gendron-Maguire, M.; Gridley, T.; Wolburg, H.; Risau, W.; Qin, Y.: Distinct roles of the receptor tyrosine kinases Tie-1 and Tie-2 in blood vessel formation. Nature 376: 70-73, 1995.
[0028607]19195.Suri, C.; Jones, P. F.; Patan, S.; Bartunkova, S.; Maisonpierre, P. C.; Davis, S.; Sato, T. N.; Yancopoulos, G. D.: Requisite role of angiopoietin-1, a ligand for the TIE2 receptor, during embryonic angiogenesis. Cell 87: 1171-1180, 1996.
[0028608]19196.Suri, C.; McClain, J.; Thurston, G.; McDonald, D. M.; Zhou, H.; Oldmixon, E. H.; Sato, T. N.; Yancopoulos, G. D.: Increased vascularization in mice overexpressing angiopoietin-1. Science 282: 468-471, 1998.
[0028609]19197.Valenzuela, D. M.; Griffiths, J. A.; Rojas, J.; Aldrich, T. H.; Jones, P. F.; Zhou, H.; McClain, J.; Copeland, N. G.; Gilbert, D. J.; Jenkins, N. A.; Huang, T.; Papadopoulos, N.; Maisonpierre, P. C.; Davis, S.; Yancopoulos, G. D.: Angiopoietins 3 and 4: diverging gene counterparts in mice and humans. Proc. Nat. Acad. Sci. 96: 1904-1909, 1999.
[0028610]19198.Chestkov, A. V.; Baka, I. D.; Kost, M. V.; Georgiev, G. P.; Buchman, V. L.: The d4 gene family in the human genome. Genomics 36: 174-177, 1996.
[0028611]19199.Gabig, T. G.; Crean, C. D.; Klenk, A.; Long, H.; Copeland, N. G.; Gilbert, D. J.; Jenkins, N. A.; Quincey, D.; Parente, F.; Lespinasse, F.; Carle, G. F.; Gaudray, P.; and 13 others: Expression and chromosomal localization of the Requiem gene. Mammalian Genome 9: 660-665, 1998.
[0028612]19200.Gabig, T. G.; Mantel, P. L.; Rosli, R.; Crean, C. D.: Requiem: a novel zinc finger gene essential for apoptosis in myeloid cells. J. Biol. Chem. 269: 29515-29519, 1994.
[0028613]19201.Smith, J. E., Jr.; Bollekens, J. A.; Inghirami, G.; Takeshita, K.: Cloning and mapping of the MEIS1 gene, the human homolog of a murine leukemogenic gene. Genomics 43: 99-103, 1997.
[0028614]19202.Nakanishi-Matsui, M.; Zheng, Y.-W.; Sulciner, D. J.; Weiss, E. J.; Ludeman, M. J.; Coughlin, S. R.: PAR3 is a cofactor for PAR4 activation by thrombin. Nature 404: 609-613, 2000.
[0028615]19203.Sambrano, G. R.; Weiss, E. J.; Zheng, Y.-W.; Huang, W.; Coughlin, S. R.: Role of thrombin signalling in platelets in haemostasis and thrombosis. Nature 413: 74-78, 2001.
[0028616]19204.Crosnier, C.; Driancourt, C.; Raynaud, N.; Dhorne-Pollet, S.; Pollet, N.; Bernard, O.; Hadchouel, M.; Meunier-Rotival, M.: Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome. Gastroenterology 116: 1141-1148, 1999.
[0028617]19205.Liese, J.; Kloos, S.; Jendrossek, V.; Petropoulou, T.; Wintergerst, U.; Notheis, G.; Gahr, M.; Belohradsky, B. H.: Long-term follow-up and outcome of 39 patients with chronic granulomatous disease. J. Pediat. 137: 687-693, 2000.
[0028618]19206.Parkos, C. A.; Allen, R. A.; Cochrane, C. G.; Jesaitis, A. J. : Purified cytochrome b from human granulocyte plasma membrane is comprised of two polypeptides with relative molecular weights of 91,000 and 22,000. J. Clin. Invest. 80: 732-742, 1987.
[0028619]19207.Parkos, C. A.; Dinauer, M. C.; Walker, L. E.; Allen, R. A.; Jesaitis, A. J.; Orkin, S. H.: Primary structure and unique expression of the 22-kilodalton light chain of human neutrophil cytochrome b. Proc. Nat. Acad. Sci. 85: 3319-3323, 1988.
[0028620]19208.Schapiro, B. L.; Newburger, P. E.; Klempner, M. S.; Dinauer, M. C.: Chronic granulomatous disease presenting in a 69-year-old man. New Eng. J. Med. 325: 1786-1790, 1991.
[0028621]19209.Stasia, M. J.; Bordigoni, P.; Martel, C.; Morel, F.: A novel and unusual case of chronic granulomatous disease in a child with a homozygous 36-bp deletion in the CYBA gene (A22-0) leading to the activation of a cryptic splice site in intron 4. Hum. Genet. 110: 444-450, 2002.
[0028622]19210.Ushio-Fukai, M.; Zafari, A. M.; Fukui, T.; Ishizaka, N.; Griendling, K.: p22-phox is a critical component of the superoxide-generating NADH/NADPH oxidase system and regulates angiotensin II-induced hypertrophy in vascular smooth muscle cells. J. Biol. Chem. 271: 23317-23321, 1996.
[0028623]19211.Weening, R. S.; Corbeel, L.; de Boer, M.; Lutter, R.; van Zwieten, R.; Hamers, M. N.; Roos, D.: Cytochrome b deficiency in an autosomal form of chronic granulomatous disease: a third form of chronic granulomatous disease recognized by monocyte hybridization. J. Clin. Invest. 75: 915-920, 1985.
[0028624]19212.Yamada, M.; Ariga, T.; Kawamura, N.; Ohtsu, M.; Imajoh-Ohmi, S.; Ohshika, E.; Tatsuzawa, O.; Kobayashi, K.; Sakiyama, Y.: Genetic studies of three Japanese patients with p22-phoxdeficient chronic granulomatous disease: detection of a possible common mutant CYBA allele in Japan and a genotype-phenotype correlation in these patients. Brit. J. Haemat. 108: 511-517, 2000.
[0028625]19213.Francke, U.; Hsieh, C.-L.; Foellmer, B. E.; Lomax, K. J.; Malech, H. L.; Leto, T. L.: Genes for two autosomal recessive forms of chronic granulomatous disease assigned to 1q25 (NCF2) and 7q11.23 (NCF1). Am. J. Hum. Genet. 47: 483-492, 1990.
[0028626]19214.Chasse, J. F.; Paul, V.; Escanez, R.; Kamoun, P.; London, J.: Human cystathionine beta-synthase: gene organization and expression of different 5-prime alternative splicing. Mammalian Genome 8: 917-921, 1997.
[0028627]19215.Paulweber, B.; Wiebusch, H.; Miesenboeck, G.; Funke, H.; Assmann, G.; Hoelzl, B.; Sippl, M. J.; Friedl, W.; Patsch, J. R.; Sandhofer, F.: Molecular basis of lipoprotein lipase deficiency in two Austrian families with type I hyperlipoproteinemia. Atherosclerosis 86: 239-250, 1991.
[0028628]19216.Andersson, S.; Berman, D. M.; Jenkins, E. P.; Russell, D. W.: Deletion of steroid 5-alpha-reductase 2 gene in male pseudohermaphroditism. Nature 354: 159-161, 1991.
[0028629]19217.Boudon, C.; Lobaccaro, J. M.; Lumbroso, S.; Ogur, G.; Ocal, G.; Belon, C.; Sultan, C.: A new deletion of the 5-alpha-reductase type 2 gene in a Turkish family with 5-alpha-reductase deficiency. Clin. Endocr. 43: 183-188, 1995.
[0028630]19218.Cai, L.-Q.; Zhu, Y.-S.; Katz, M. D.; Herrera, C.; Baez, J.; DeFillo-Ricart, M.; Shackleton, C. H. L.; Imperato-McGinley, J.: 5-Alpha-reductase-2 gene mutations in the Dominican Republic. J. Clin. Endocr. Metab. 81: 1730-1735, 1996.
[0028631]19219.Can, S.; Zhu, Y.-S.; Cai, L.-Q.; Ling, Q.; Katz, M. D.; Akgun, S.; Shackleton, C. H. L.; Imperato-McGinley, J.: The identification of 5-alpha-reductase-2 and 17-beta-hydroxysteroid dehydrogenase-3 gene defects in male pseudohermaphrodites from a Turkish kindred. J. Clin. Endocr. Metab. 83: 560-569, 1998.
[0028632]19220.Chavez, B.; Valdez, E.; Vilchis, F.: Uniparental disomy in steroid 5-alpha-reductase 2 deficiency. J. Clin. Endocr. Metab. 85: 3147-3150, 2000.
[0028633]19221.De Vaal, O. M.: Genital intersexuality in three brothers, connected with consanguineous marriages in the three previous generations. Acta Paediat. 44: 35-39, 1955.
[0028634]19222.Forti, G.; Falchetti, A.; Santoro, S.; Davis, D. L.; Wilson, J. D.; Russell, D. W.: Steroid 5 alpha-reductase 2 deficiency: virilization in early infancy may be due to partial function of mutant enzyme. Clin. Endocr. 44: 477-482, 1996.
[0028635]19223.Greene, S. A.; Symes, E.; Brook, C. G. D.: 5-Alpha-reductase deficiency causing male pseudohermaphroditism. Arch. Dis. Child. 53: 751-753, 1978.
[0028636]19224.Hochberg, Z.; Chayen, R.; Reiss, N.; Falik, Z.; Makler, A.; Munichor, M.; Farkas, A.; Goldfarb, H.; Ohana, N.; Hiort, O.: Clinical, biochemical, and genetic findings in a large pedigree of male and female patients with 5-alpha-reductase 2 deficiency. J. Clin. Endocr. Metab. 81: 2821-2827, 1996.
[0028637]19225.Imperato-McGinley, J.; Gautier, T.: Inherited 5-alpha-reductase deficiency in man. Trends Genet. 2: 130-133, 1986.
[0028638]19226.Imperato-McGinley, J.; Guerrero, L.; Gautier, T.; German, J. L.; Peterson, R. E.: Steroid-5-alpha-reductase deficiency in man. An inherited form of male pseudohermaphroditism.In: Bergsma, D.: Genetic Forms of Hypogonadism. New York: National Foundation-March of Dimes (pub.) 1975. Pp. 91-103.
[0028639]19227.Imperato-McGinley, J.; Guerrero, L.; Gautier, T.; Peterson, R. E.: Steroid 5-alphareductase deficiency in man: an inherited form of male pseudohermaphroditism. Science 186: 1213-1215, 1974.
[0028640]19228.Imperato-McGinley, J.; Miller, M.; Wilson, J. D.; Peterson, R. E.; Shackleton, C.; Gajdusek, D. C.: A cluster of male pseudohermaphrodites with 5-alpha-reductase deficiency in Papua New Guinea. Clin. Endocr. 34: 293-298, 1991.
[0028641]19229.Imperato-McGinley, J.; Peterson, R. E.; Gautier, T.; Sturla, E. : Androgens and the evolution of male-gender identity among male pseudohermaphrodites with 5-alpha-reductase deficiency. New Eng. J. Med. 300: 1233-1237, 1979.
[0028642]19230.Chrzanowska, B. L.; Nitzan, M.; Phillips, L. S.; Schulman, J. D.: Homocysteic acid: an examination of its possible growth hormone-like activity. Metabolism 28: 80-84, 1979.
[0028643]19231.Cochran, F. B.; Sweetman, L.; Schmidt, K.; Barsh, G.; Kraus, J.; Packman, S.: Pyridoxine-unresponsive homocystinuria with an unusual clinical course. Am. J. Med. Genet. 35: 519-522, 1990.
[0028644]19232.Collins, J. E.; Brenton, D. P.: Pancreatitis and homocystinuria. J. Inherit. Metab. Dis. 13: 232-233, 1990.
[0028645]19233.Di Minno, G.; Davi, G.; Margaglione, M.; Cirillo, F.; Grandone, E.; Ciabattoni, G.; Catalano, I.; Strisciuglio, P.; Andria, G.; Patrono, C.; Mancini, M.: Abnormally high thromboxane biosynthesis in homozygous homocystinuria: evidence for platelet involvement and probucol-sensitive mechanism. J. Clin. Invest. 92: 1400-1406, 1993.
[0028646]19234.Falcon, C. R.; Cattaneo, M.; Panzeri, D.; Martinelli, I.; Mannucci, P. M.: High prevalence of hyperhomocyst(e)inemia in patients with juvenile venous thrombosis. Arteriosclerosis Thromb. 14: 1080-1083, 1994.
[0028647]19235.Field, C. M. B.; Carson, N. A. J.; Cusworth, D. C.; Dent, C. E.; Neill, D. W.: Homocystinuria, a new disorder of metabolism. (Abstract) Proc. 10th Int. Cong. Pediat., Lisbon 274-275, 1962.
[0028648]19236.Fowler, B.; Kraus, J.; Packman, S.; Rosenberg, L. E.: Homocystinuria: evidence for three distinct classes of cystathionine beta-synthetase mutants in cultured fibroblasts. J. Clin. Invest. 61: 645-653, 1978.
[0028649]19237.Franco, R. F.; Elion, J.; Lavinha, J.; Krishnamoorthy, R.; Tavella, M. H.; Zago, M. A.: Heterogeneous ethnic distribution of the 844ins68 in the cystathionine beta-synthase gene. Hum. Hered. 48: 338-342, 1998.
[0028650]19238.Franken, D. G.; Boers, G. H. J.; Blom, H. J.; Cruysberg, J. R. M.; Trijbels, F. J. M.; Hamel, B. C. J.: Prevalence of familial mild hyperhomocysteinemia. Atherosclerosis 125: 71-80, 1996.
[0028651]19239.Frimpter, G. W.: Homocystinuria: vitamin B6 dependent or not? (Editorial) Ann. Intern. Med. 71: 209-211, 1969.
[0028652]19240.Fryer, R. H.; Wilson, B. D.; Gubler, D. B.; Fitzgerald, L. A.; Rodgers, G. M.: Homocysteine, a risk factor for premature vascular disease and thrombosis, induces tissue factor activity in endothelial cells. Arteriosclerosis Thromb. 13: 1327-1333, 1993.
[0028653]19241.Gallagher, P. M.; Naughten, E.; Hanson, N. Q.; Schwichtenberg, K.; Bignell, M.; Yuan, M.; Ward, P.; Yap, S.; Whitehead, A. S.; Tsai, M. Y.: Characterization of mutations in the cystathionine beta-synthase gene in Irish patients with homocystinuria. Molec. Genet. Metab. 65: 298-302, 1998.
[0028654]19242.Gallagher, P. M.; Ward, P.; Tan, S.; Naughten, E.; Kraus, J. P.; Sellar, G. C.; McConnell, D. J.; Graham, I.; Whitehead, A. S.: High frequency (71%) of cystathionine beta-synthase mutation G307S in Irish homocystinuria patients. Hum. Mutat. 6: 177-180, 1995.
[0028655]19243.Gaustadnes, M.; Ingerslev, J.; Rutiger, N.: Prevalence of congenital homocystinuria in Denmark. (Letter) New Eng. J. Med. 340: 1513 only, 1999.
[0028656]19244.Gaustadnes, M.; Rudiger, N.; Rasmussen, K.; Ingerslev, J.: Intermediate and severe hyperhomocysteinemia with thrombosis: a study of genetic determinants. Thromb. Haemost. 83: 554-558, 2000.
[0028657]19245.Gaustadnes, M.; Wilcken, B.; Oliveriusova, J.; McGill, J.; Fletcher, J.; Kraus, J. P.; Wilcken, D. E.: The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment. Hum. Mutat. 20: 117-126, 2002.
[0028658]19246.Gerding, H.: Ocular complications and a new surgical approach to lens dislocation in homocystinuria due to cystathionine-beta-synthetase deficiency. Europ. J. Pediat. 157 (suppl. 2): S94-S101, 1998.
[0028659]19247.Gerritsen, T.; Vaughn, J. G.; Waisman, H. A.: The identification of homocystine in the urine. Biochem. Biophys. Res. Commun. 9: 493-496, 1962.
[0028660]19248.Goldstein, J. L.; Campbell, B. K.; Gartler, S. M.: Homocystinuria: heterozygote detection using phytohemagglutinin-stimulated lymphocytes. J. Clin. Invest. 52: 218, 1973.
[0028661]19249.Goldstein, J. L.; Campbell, B. K.; Gartler, S. M.: Cystathionine synthetase activity in human lymphocytes: induction by phytohemagglutinin. J. Clin. Invest. 51: 1034-1037, 1972.
[0028662]19250.Gu, Z.; Ramesh, V.; Kozich, V.; Korson, M. S.; Kraus, J. P.; Shih, V. E.: Identification of a molecular genetic defect in homocystinuria due to cystathionine beta-synthase deficiency. (Abstract) Am. J. Hum. Genet. 49: 406 only, 1991.
[0028663]19251.Guttormsen, A. B.; Ueland, P. M.; Kruger, W. D.; Kim, C. E.; Ose, L.; Folling, I.; Refsum, H.: Disposition of homocysteine in subjects heterozygous for homocystinuria due to cystathionine beta-synthase deficiency: relationship between genotype and phenotype. Am. J. Med. Genet. 100: 204-213, 2001.
[0028664]19252.Harker, L. A.; Ross, R.; Slichter, S. J.; Scott, C. R.: Homocystine-induced arteriosclerosis: the role of endothelial cell injury and platelet response in its genesis. J. Clin. Invest. 58: 731-741, 1976.
[0028665]19253.Harker, L. A.; Slichter, S. J.; Scott, C. R.; Ross, R.: Homocystinuria: vascular injury and arterial thrombosis. New Eng. J. Med. 291: 537-543, 1974.
[0028666]19254.Harrison, D. A.; Mullaney, P. B.; Mesfer, S. A.; Awad, A. H.; Dhindsa, H.: Management of ophthalmic complications of homocystinuria. Ophthalmology 105: 1886-1890, 1998.
[0028667]19255.Hooft, C.; Carton, D.; Samyn, W.: Pyridoxine treatment in homocystinuria. (Letter) Lancet I: 1384 only, 1967.
[0028668]19256.Hu, F. L.; Gu, Z.; Kozich, V.; Kraus, J. P.; Ramesh, V.; Shih, V. E.: Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria. Hum. Molec. Genet. 2: 1857-1860, 1993.
[0028669]19257.Janosik, M.; Oliveriusova, J.; Janosikova, B.; Sokolova, J.; Kraus, E.; Kraus, J. P.; Kozich, V.: Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria. Am. J. Hum. Genet. 68: 1506-1513, 2001.
[0028670]19258.Kaeser, A. C.; Rodnight, R.; Ellis, B. A.: Psychiatric and biochemical aspects of a case of homocystinuria. J. Neurol. Neurosurg. Psychiat. 32: 88-93, 1969.
[0028671]19259.Kang, S.-S.; Wong, P. W. K.; Cook, H. Y.; Norusis, M.; Messer, J. V.: Protein-bound homocyst(e)ine: a possible risk factor for coronary artery disease. J. Clin. Invest. 77: 1482-1486, 1986.
[0028672]19260.Kery, V.; Poneleit, L.; Meyer, J. D.; Manning, M. C.; Kraus, J. P.: Binding of pyridoxal 5-prime-phosphate to the heme protein human cystathionine beta-synthase. Biochemistry 38: 2716-2724, 1999.
[0028673]19261.Kim, C. E.; Gallagher, P. M.; Guttormsen, A. B.; Refsum, H.; Ueland, P. M.; Ose, L.; Folling, I.; Whitehead, A. S.; Tsai, M. Y.; Kruger, W. D.: Functional modeling of vitamin responsiveness in yeast: a common pyridoxine-responsive cystathionine beta-synthase mutation in homocystinuria. Hum. Molec. Genet. 6: 2213-2221, 1997.
[0028674]19262.Giralt, M.; Park, E. A.; Gurney, A. L.; Liu, J.; Hakimi, P.; Hanson, R. W.: Identification of a thyroid hormone response element in the phosphoenolpyruvate carboxykinase (GTP) gene: evidence for synergistic interaction between thyroid hormone and cAMP cis-regulatory elements. J. Biol. Chem. 266: 21991-21996, 1991.
[0028675]19263.Pilz, A. J.; Willer, E.; Povey, S.; Abbott, C. M.: The genes coding for phosphoenolpyruvate carboxykinase-1 (PCK1) and neuronal nicotinic acetylcholine receptor alpha-4 subunit (CHRNA4) map to human chromosome 20, extending the known region of homology with mouse chromosome 2. Ann. Hum. Genet. 56: 289-293, 1992.
[0028676]19264.Olswang, Y.; Cohen, H.; Papo, O.; Cassuto, H.; Croniger, C. M.; Hakimi, P.; Tilghman, S. M.; Hanson, R. W.; Reshef, L.: A mutation in the peroxisome proliferator-activated receptor gamma-binding site in the gene for the cytosolic form of phosphoenolpyruvate carboxykinase reduces adipose tissue size and fat content in mice. Proc. Nat. Acad. Sci. 99: 625-630, 2002.
[0028677]19265.Stoffel, M.; Xiang, K.; Espinosa, R., III; Cox, N. J.; Le Beau, M. M.; Bell, G. I.: cDNA sequence and localization of polymorphic human cytosolic phosphoenolpyruvate carboxykinase gene (PCK1) to chromosome 20, band q13.31: PCK1 is not tightly linked to maturity-onset diabetes of the young. Hum. Molec. Genet. 2: 1-4, 1993.
[0028678]19266.Ting, C.-N.; Burgess, D. L.; Chamberlain, J. S.; Keith, T. P.; Falls, K.; Meisler, M. H.: Phosphoenolpyruvate carboxykinase (GTP): characterization of the human PCK1 gene and localization distal to MODY on chromosome 20. Genomics 16: 698-706, 1993.
[0028679]19267.Vidnes, J.; Sovik, O.: Gluconeogenesis in infancy and childhood. III. Deficiency of the extramitochondrial form of hepatic phosphoenolpyruvate carboxykinase in a case of persistent neonatal hypoglycaemia. Acta Paediat. Scand. 65: 301-312, 1976.
[0028680]19268.Yu, H.; Thun, R.; Chandrasekharappa, S.; Trent, J. M.; Zhang, J.; Meisler, M. H.: Human PCK1 encoding phosphoenolpyruvate carboxykinase is located on chromosome 20q13.2. Genomics 15: 219-221, 1993.
[0028681]19269.Abarbanel, J. M.; Bashan, N.; Potashnik, R.; Osimani, A.; Moses, S. W.; Herishanu, Y.: Adult muscle phosphorylase 'b' kinase deficiency. Neurology 36: 560-562, 1986.
[0028682]19270.Pepe, G.; Chimienti, G.; Resta, F.; Di Perna, V.; Tarricone, C.; Lovecchio, M.; Colacicco, A. M.; Capurso, A.: A new Italian case of lipoprotein lipase deficiency: a leu365-to-val change resulting in loss of enzyme activity. Biochem. Biophys. Res. Commun. 199: 570-576, 1994.
[0028683]19271.Reymer, P. W. A.; Groenemeyer, B. E.; Gagne, E.; Miao, L.; Appelman, E. E. G.; Seidel, J. C.; Kromhout, D.; Bijvoet, S. M.; van de Oever, K.; Bruin, T.; Hayden, M. R.; Kastelein, J. J. P.: A frequently occurring mutation in the lipoprotein lipase gene (Asn291Ser) contributes to the expression of familial combined hyperlipidemia. Hum. Molec. Genet. 4: 1543-1549, 1995.
[0028684]19272.Samuels, M. E.; Forbey, K. C.; Reid, J. E.; Abkevich, V.; Bulka, K.; Wardell, B. R.; Bowen, B. R.; Hopkins, P. N.; Hunt, S. C.; Ballinger, D. G.; Skolnick, M. H.; Wagner, S.: Identification of a common variant in the lipoprotein lipase gene in a large Utah kindred ascertained for coronary heart disease: the -93G/D9N variant predisposes to low HDL-C/high triglycerides. Clin. Genet. 59: 88-98, 2001.
[0028685]19273.Schreibman, P. H.; Arons, D. L.; Saudek, C. D.; Arky, R. A.: Abnormal lipoprotein lipase in familial exogenous hypertriglyceridemia. J. Clin. Invest. 52: 2074-2082, 1973.
[0028686]19274.Sprecher, D. L.; Kobayashi, J.; Rymaszewski, M.; Goldberg, I. J.; Harris, B. V.; Bellet, P. S.; Ameis, D.; Yunker, R. L.; Black, D. M.; Stein, E. A.; Schotz, M. C.; Wiginton, D. A.: Trp64-tononsense mutation in the lipoprotein lipase gene. J. Lipid Res. 33: 859-866, 1992.
[0028687]19275.Sternowsky, H. J.; Gaertner, U.; Stahnkel, N.; Kaukel, E.: Juvenile familial hypertriglyceridemia and growth retardation: clinical and biochemical observations in three siblings. Europ. J. Pediat. 125: 59-70, 1977.
[0028688]19276.Takagi, A.; Ikeda, Y.; Tsutsumi, Z.; Shoji, T.; Yamamoto, A.: Molecular studies on primary lipoprotein lipase (LPL) deficiency: one base deletion (G-916) in exon 5 of LPL gene causes no detectable LPL protein due to the absence of LPL mRNA transcript. J. Clin. Invest. 89: 581-591, 1992.
[0028689]19277.Weinstock, P. H.; Bisgaier, C. L.; Aalto-Setala, K.; Radner, H.; Ramakrishnan, R.; Levak-Frank, S.; Essenburg, A. D.; Zechner, R.; Breslow, J. L.: Severe hypertriglyceridemia, reduced high density lipoprotein, and neonatal death in lipoprotein lipase knockout mice: mild hypertriglyceridemia with impaired very low density lipoprotein clearance in heterozygotes. J. Clin. Invest. 96: 2555-2568, 1995.
[0028690]19278.Wessler, S.; Avioli, L. A.: Familial hyperlipoproteinemia. J.A.M.A. 207: 929-937, 1969.
[0028691]19279.Wilson, D. E.; Edwards, C. Q.; Chan, I.-F.: Phenotypic heterogeneity in the extended pedigree of a proband with lipoprotein lipase deficiency. Metabolism 32: 1107-1114, 1983.
[0028692]19280.Wilson, D. E.; Emi, M.; Iverius, P.-H.; Hata, A.; Wu, L. L.; Hillas, E.; Williams, R. R.; Lalouel, J.-M.: Phenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree of a proband homozygous for a missense mutation. J. Clin. Invest. 86: 735-750, 1990.
[0028693]19281.Wilson, D. E.; Hata, A.; Kwong, L. K.; Lingam, A.; Shuhua, J.; Ridinger, D. N.; Yeager, C.; Kaltenborn, K. C.; Iverius, P.-H.; Lalouel, J.-M.: Mutations in exon 3 of the lipoprotein lipase gene segregating in a family with hypertriglyceridemia, pancreatitis, and non-insulin-dependent diabetes. J. Clin. Invest. 92: 203-211, 1993.
[0028694]19282.Wion, K. L.; Kirchgessner, T. G.; Lusis, A. J.; Schotz, M. C.; Lawn, R. M.: Human lipoprotein lipase complementary DNA sequence. Science 235: 1638-1641, 1987.
[0028695]19283.Wittrup, H. H.; Tybjaerg-Hansen, A.; Abildgaard, S.; Steffensen, R.; Schnohr, P.; Nordestgaard, B. G.: A common substitution (asn291ser) in lipoprotein lipase is associated with increased risk of ischemic heart disease. J. Clin. Invest. 99: 1606-1613, 1997.
[0028696]19284.Wittrup, H. H.; Tybjaerg-Hansen, A.; Steffensen, R.; Deeb, S. S.; Brunzell, J. D.; Jensen, G.; Nordestgaard, B. G.: Mutations in the lipoprotein lipase gene associated with ischemic heart disease in men: the Copenhagen City Heart Study. Arterioscler. Thromb. Vasc. Biol. 19: 1535-1540, 1999.
[0028697]19285.Wood, S.; Schertzer, M.; Hayden, M.; Ma, Y.: Support for founder effect for two lipoprotein lipase (LPL) gene mutations in French Canadians by analysis of GT microsatellites flanking the LPL gene. Hum. Genet. 91: 312-316, 1993.
[0028698]19286.Burke, V.; Colebatch, J. H.; Anderson, C. M.; Simons, M. J.: Association of pancreatic insufficiency and chronic neutropenia in childhood. Arch. Dis. Child. 42: 147-157, 1967.
[0028699]19287.Ando, T.; Klingberg, W. G.; Ward, A. N.; Rasmussen, K.; Nyhan, W. L.: Isovaleric acidemia presenting with altered metabolism of glycine. Pediat. Res. 5: 478-486, 1971.
[0028700]19288.Ando, T.; Nyhan, W. L.; Bachmann, C.; Rasmussen, K.; Scott, R.; Smith, E. K.: Isovaleric acidemia: identification of isovalerylglycine, and 3-hydroxyisovalerate in urine of a patient previously reported as having butyric and hexanoic acidemia. J. Pediat. 82: 243-248, 1973.
[0028701]19289.Budd, M. A.; Tanaka, K. R.; Holmes, L. B.; Efron, M. L.; Crawford, J. D.; Isselbacher, K. J.: Isovaleric acidemia: clinical feature of a new genetic defect of leucine metabolism. New Eng. J. Med. 277: 321-327, 1967.
[0028702]19290.Cohn, R. M.; Yudkoff, R.; Rothman, R.; Segal, S.: Isovaleric acidemia: use of glycine therapy in neonates. New Eng. J. Med. 299: 996-999, 1978.
[0028703]19291.de Sousa, C.; Chalmers, R. A.; Stacey, T. E.; Tracey, B. M.; Weaver, C. M.; Bradley, D.: The response to L-carnitine and glycine therapy in isovaleric acidaemia. Europ. J. Pediat. 144: 451-456, 1986.
[0028704]19292.Duran, M.; van Sprang, F. J.; Drewes, J. G.; Bruinvis, L.; Ketting, D.; Wadman, S. K.: Two sisters with isovaleric acidemia, multiple attacks of ketoacidosis and normal development. Europ. J. Pediat. 131: 205-211, 1979.
[0028705]19293.Efron, M. L.: Isovaleric acidemia. Am. J. Dis. Child. 113: 74-76, 1967.
[0028706]19294.Kupfer, G. M.; Naf, D.; Suliman, A.; Pulsipher, M.; D'Andrea, A. D.: The Fanconi anaemia proteins, FAA and FAC, interact to form a nuclear complex. Nature Genet. 17: 487-490, 1997.
[0028707]19295.Kupfer, G. M.; Yamashita, T.; Naf, D.; Suliman, A.; Asano, S.; D'Andrea, A. D.: The Fanconi anemia polypeptide, FAC, binds to the cyclin-dependent kinase, cdc2. Blood 90: 1047-1054, 1997.
[0028708]19296.Liebetrau, W.; Budde, A.; Savoia, A.; Grummt, F.; Hoehn, H.: p53 activates Fanconi anemia group C gene expression. Hum. Molec. Genet. 6: 277-283, 1997.
[0028709]19297.Lo Ten Foe, J. R.; Kwee, M. L.; Rooimans, M. A.; Oostra, A. B.; Veermans, A. J. P.; van Weel, M.; Pauli, R. M.; Shahidi, N. T.; Dokal, I.; Roberts, I.; Altay, C.; Gluckman, E.; Gibson, R. A.; Mathew, C. G.; Arwert, F.; Joenje, H.: Somatic mosaicism in Fanconi anemia: molecular basis and clinical significance. Europ. J. Hum. Genet. 5: 137-148, 1997.
[0028710]19298.Lo Ten Foe, J. R.; Rooimans, M. A.; Joenje, H.; Arwert, F.: Novel frameshift mutation (1806insA) in exon 14 of the Fanconi anemia C gene, FAC. Hum. Mutat. 7: 264-265, 1996.
[0028711]19299.Murer-Orlando, M.; Llerena, J. C., Jr.; Birjandi, F.; Gibson, R. A.; Mathew, C. G.: FACC gene mutations and early prenatal diagnosis of Fanconi's anaemia. (Letter) Lancet 342: 686 only, 1993.
[0028712]19300.Pace, P.; Johnson, M.; Tan, W. M.; Mosedale, G.; Sng, C.; Hoatlin, M.; de Winter, J.; Joenje, H.; Gergely, F.; Patel, K. J.: FANCE: the link between Fanconi anaemia complex assembly and activity. EMBO J. 21: 3414-3423, 2002.
[0028713]19301.Pang, Q.; Christianson, T. A.; Keeble, W.; Diaz, J.; Faulkner, G. R.; Reifsteck, C.; Olson, S.; Bagby, G. C.: The Fanconi anemia complementation group C gene product: structural evidence of multifunctionality. Blood 98: 1392-1401, 2001.
[0028714]19302.Pang, Q.; Fagerlie, S.; Christianson, T. A.; Keeble, W.; Faulkner, G.; Diaz, J.; Rathbun, R. K.; Bagby, G. C.: The Fanconi anemia protein FANCC binds to and facilitates the activation of STAT1 by gamma interferon and hematopoietic growth factors. Molec. Cell. Biol. 20: 4724-4735, 2000.
[0028715]19303.Riley, J.; Butler, R.; Ogilvie, D.; Finniear, R.; Jenner, D.; Powell, S.; Anand, R.; Smith, J. C.; Markham, A. F.: A novel, rapid method for the isolation of terminal sequences from yeast artificial chromosome (YAC) clones. Nucleic Acids Res. 18: 2887-2890, 1990.
[0028716]19304.Roberts, R. G.; Coffey, A. J.; Bobrow, M.; Bentley, D. R.: Determination of the exon structure of the distal portion of the dystrophin gene by vectorette PCR. Genomics 13: 942-950, 1992.
[0028717]19305.Savoia, A.; Centra, M.; Ianzano, L.; de Cillis, G. P.; Zelante, L.; Buchwald, M.: Characterization of the 5-prime region of the Fanconi anaemia group C (FACC) gene. Hum. Molec. Genet. 4: 1321-1326, 1995.
[0028718]19306.Segal, G. M.; Magenis, R. E.; Brown, M.; Keeble, W.; Smith, T. D.; Heinrich, M. C.; Bagby, G. C., Jr.: Repression of Fanconi anemia gene (FACC) expression inhibits growth of hematopoietic progenitor cells. J. Clin. Invest. 94: 846-852, 1994.
[0028719]19307.Strathdee, C. A.; Duncan, A. M. V.; Buchwald, M.: Evidence for at least four Fanconi anaemia genes including FACC on chromosome 9. Nature Genet. 1: 196-198, 1992.
[0028720]19308.Verlander, P. C.; Kaporis, A.; Liu, Q.; Zhang, Q.; Seligsohn, U.; Auerbach, A. D.: Carrier frequency of the IVS4 + 4 A-to-T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population. Blood 86: 4034-4038, 1995.
[0028721]19309.Verlinsky, Y.; Rechitsky, S.; Schoolcraft, W.; Strom, C.; Kuliev, A.: Preimplantation diagnosis for Fanconi anemia combined with HLA matching. J.A.M.A. 285: 3130-3133, 2001.
[0028722]19310.Waisfisz, Q.; Morgan, N. V.; Savino, M.; de Winter, J. P.; van Berkel, C. G. M.; Hoatlin, M. E.; Ianzano, L.; Gibson, R. A.; Arwert, F.; Savoia, A.; Mathew, C. G.; Pronk, J. C.; Joenje, H.: Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism. Nature Genet. 22: 379-383, 1999.
[0028723]19311.Wevrick, R.; Barker, J. E.; Eppig, J. T.; Nadeau, J. H.; Buchwald, M.: Expression of the Fanconi anemia group C gene in the mouse. (Abstract) Am. J. Hum. Genet. 51 (suppl.): A137 only, 1992.
[0028724]19312.Wevrick, R.; Barker, J. E.; Nadeau, J. H.; Szpirer, C.; Buchwald, M.: Mapping of the murine and rat Facc genes and assessment of flexed-tail as a candidate mouse homolog of Fanconi anemia group C. Mammalian Genome 4: 440-444, 1993.
[0028725]19313.Whitney, M. A.; Jakobs, P.; Kaback, M.; Moses, R. E.; Grompe, M.: The Ashkenazi Jewish Fanconi anemia mutation: incidence among patients and carrier frequency in the at-risk population. Hum. Mutat. 3: 339-341, 1994.
[0028726]19314.Whitney, M. A.; Royle, G.; Low, M. J.; Kelly, M. A.; Axthelm, M. K.; Reifsteck, C.; Olson, S.; Braun, R. E.; Heinrich, M. C.; Rathbun, R. K.; Bagby, G. C.; Grompe, M.: Germ cell defects and hematopoietic hypersensitivity to gamma-interferon in mice with a targeted disruption of the Fanconi anemia C gene. Blood 88: 49-58, 1996.
[0028727]19315.Whitney, M. A.; Saito, H.; Jakobs, P. M.; Gibson, R. A.; Moses, R. E.; Grompe, M.: A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews. Nature Genet. 4: 202-205, 1993.
[0028728]19316.Yamashita, T.; Barber, D. L.; Zhu, Y.; Wu, N.; D'Andrea, A. D. : The Fanconi anemia polypeptide FACC is localized to the cytoplasm. Proc. Nat. Acad. Sci. 91: 6712-6716, 1994.
[0028729]19317.Yamashita, T.; Wu, N.; Kupfer, G.; Corless, C.; Joenje, H.; Grompe, M.; D'Andrea, A. D.: Clinical variability of Fanconi anemia (type C) results from expression of an amino terminal truncated Fanconi anemia complementation group C polypeptide with partial activity. Blood 87: 4424-4432, 1996.
[0028730]19318.Youssoufian, H.: Cytoplasmic localization of FAC is essential for the correction of a prerepair defect in Fanconi anemia group C cells. J. Clin. Invest. 97: 2003-2010, 1996.
[0028731]19319.Youssoufian, H.: Localization of Fanconi anemia C protein to the cytoplasm of mammalian cells. Proc. Nat. Acad. Sci. 91: 7975-7979, 1994.
[0028732]19320.Youssoufian, H.; Li, Y.; Martin, M. E.; Buchwald, M.: Induction of Fanconi anemia cellular phenotype in human 293 cells by overexpression of a mutant FAC allele. J. Clin. Invest. 97: 957-962, 1996.
[0028733]19321.Hodge, S. E.; Anderson, C. E.; Neiswanger, K.; Field, L. L.; Spence, M. A.; Sparkes, R. S.; Sparkes, M. C.; Crist, M.; Terasaki, P. I.; Rimoin, D. L.; Rotter, J. I.: Close genetic linkage between diabetes mellitus and Kidd blood group. Lancet II: 893-895, 1981.
[0028734]19322.Marcolongo, P.; Banhegyi, G.; Benedetti, A.; Hinds, C. J.; Burchell, A.: Liver microsomal transport of glucose-6-phosphate, glucose, and phosphate in type 1 glycogen storage diseases. J. Clin. Endocr. Metab. 83: 224-229, 1998.
[0028735]19323.Michels, V. V.; Beaudet, A. L.: Hemorrhagic pancreatitis in a patient with glycogen storage disease type I. Clin. Genet. 17: 220-222, 1980.
[0028736]19324.Nakai, K.; Sakamoto, H.: Construction of a novel database containing aberrant splicing mutations of mammalian genes. Gene 141: 171-177, 1994.
[0028737]19325.Napole, V. M.; Campbell, W. G., Jr.: Hepatoblastoma in infant sister and brother. Cancer 39: 2647-2650, 1977.
[0028738]19326.Nuoffer, J. M.; Mullis, P. E.; Wiesmann, U. N.: Treatment with low-dose diazoxide in two growth-retarded prepubertal girls with glycogen storage disease type Ia resulted in catch-up growth. J. Inherit. Metab. Dis. 20: 790-798, 1997.
[0028739]19327.Obara, K.; Saito, T.; Sato, H.; Ogawa, M.; Igarashi, Y.; Yoshinaga, K.: Renal histology in two adult patients with type I glycogen storage disease. Clin. Nephrol. 39: 59-64, 1993.
[0028740]19328.Parvari, R.; Lei, K.-J.; Bashan, N.; Hershkovitz, E.; Korman, S. H.; Barash, V.; Lerman-Sagie, T.; Mandel, H.; Chou, J. Y.; Moses, S. W.: Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies. Am. J. Med. Genet. 72: 286-290, 1997.
[0028741]19329.Pizzo, C. J.: Type I glycogen storage disease with focal nodular hyperplasia of the liver and vasoconstrictive pulmonary hypertension. Pediatrics 65: 341-343, 1980.
[0028742]19330.Qu, Y.; Abdenur, J. E.; Eng, C. M.; Desnick, R. J.: Molecular prenatal diagnosis of glycogen storage disease type Ia. Prenatal Diag. 15: 333-336, 1996.
[0028743]19331.Reitsma-Bierens, W. C. C.: Renal complications in glycogen storage disease type I. Europ. J. Pediat. 152 (suppl. 1): S60-S62, 1993.
[0028744]19332.Rennert, O. M.; Mukhopadhyay, D.: Diazoxide in Von Gierke's disease. Arch. Dis. Child. 43: 358-361, 1968.
[0028745]19333.Restaino, I.; Kaplan, B. S.; Stanley, C.; Baker, L.: Nephrolithiasis, hypocitraturia, and a distal renal tubular acidification defect in type 1 glycogen storage disease. J. Pediat. 122: 392-396, 1993.
[0028746]19334.Ryan, I. P.; Havel, R. J.; Laros, R. K., Jr.: Three consecutive pregnancies in a patient with glycogen storage disease type IA (von Gierke's disease). Am. J. Obstet. Gynec. 170: 1687-1691, 1994.
[0028747]19335.Selby, R.; Starzl, T. E.; Yunis, E.; Todo, S.; Tzakis, A. G.; Brown, B. I.; Kendall, R. S.: Liver transplantation for type I and type IV glycogen storage disease. Europ. J. Pediat. 152 (suppl. 1): S71-S76, 1993.
[0028748]19336.Senior, B.; Loridan, L.: Liver glycogenoses: metabolism of intravenously administered glycerol. New Eng. J. Med. 279: 958-965, 1968.
[0028749]19337.Senior, B.; Loridan, L.: Functional differentiation of glycogenoses of the liver with respect to the use of glycerol. New Eng. J. Med. 279: 965-970, 1968.
[0028750]19338.Seydewitz, H. H.; Matern, D.: Molecular genetic analysis of 40 patients with glycogen storage disease type Ia: 100% mutation detection rate and 5 novel mutations. (Abstract) Hum. Mutat. 15: 115-116, 2000.
[0028751]19339.Shelly, L. L.; Lei, K.-J.; Pan, C.-J.; Sakata, S. F.; Ruppert, S.; Schutz, G.; Chou, J. Y.: Isolation of the gene for murine glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1A. J. Biol. Chem. 268: 21482-21485, 1993.
[0028752]19340.Sidbury, J. B., Jr.: The genetics of the glycogen storage disease.In: Steinberg, A. G.; Bearn, A. G.: Progress in Medical Genetics. New York: Grune and Stratton (pub.) 4: 1965. Pp. 32-58.
[0028753]19341.Smit, G. P. A.: The long-term outcome of patients with glycogen storage disease type Ia. Europ. J. Pediat. 152 (suppl. 1): S52-S55, 1993.
[0028754]19342.Spencer-Peet, J.; Norman, M. E.; Lake, B. D.; McNamara, J.; Patrick, A. D.: Hepatic glycogen storage disease. Clinical and laboratory findings in 23 cases. Quart. J. Med. 40: 95-114, 1971.
[0028755]19343.Stamm, W. E.; Webb, D. I.: Partial deficiency of hepatic glucose-6-phosphatase in an adult patient. Arch. Intern. Med. 135: 1107-1109, 1975.
[0028756]19344.Stevenson, R. E.; Ben-Menachem, Y.; Dudrick, S.; Howell, R. R. : Hepatocellular carcinoma in type 1 glycogen storage disease. Proc. Greenwood Genet. Center 3: 39-46, 1984.
[0028757]19345.Talente, G. M.; Coleman, R. A.; Alter, C.; Baker, L.; Brown, B. I.; Cannon, R. A.; Chen, Y.-T.; Crigler, J. F., Jr.; Ferreira, P.; Haworth, J. C.; Herman, G. E.; Issenman, R. M.; Keating, J. P.; Linde, R.; Roe, T. F.; Senior, B.; Wolfsdorf, J. I.: Glycogen storage disease in adults. Ann. Intern. Med. 120: 218-226, 1994.
[0028758]19346.Trioche, P.; Francoual, J.; Capel, L.; Odievre, M.; Lindenbaum, A.; Labrune, P.: Apolipoprotein E polymorphism and serum concentrations in patients with glycogen storage disease type Ia. J. Inherit. Metab. Dis. 107-112, 2000.
[0028759]19347.Ullrich, K.; Smit, G. P. A.: Clinical aspects of glycogen storage disease type I: summary of the discussions. Europ. J. Pediat. 152 (suppl. 1): S87-S88, 1993.
[0028760]19348.Weinstein, D. A.; Somers, M. J. G.; Wolfsdorf, J. I.: Decreased urinary citrate excretion in type 1a glycogen storage disease. J. Pediat. 138: 378-382, 2001.
[0028761]19349.Wierzbicki, A. S.; Watts, G. F.; Lynas, J.; Winder, A. F.; Wray, R.: Very low-density lipoprotein apolipoprotein B-100 turnover in glycogen storage disease type Ia (von Gierke disease). J. Inherit. Metab. Dis. 24: 527-534, 2001.
[0028762]19350.Zangeneh, F.; Limbeck, G. A.; Brown, B. I.; Emch, J. R.; Arcasoy, M. M.; Goldenberg, V. E.; Kelley, V. C.: Hepatorenal glycogenosis (type I glycogenosis) and carcinoma of the liver. J. Pediat. 74: 73-83, 1969.
[0028763]19351.Maroteaux, P.; Lamy, M.: Hurler's disease, Morquio's disease, and related mucopolysaccharidoses. J. Pediat. 67: 312-323, 1965.
[0028764]19352.Adams, P. C.: Intrafamilial variation in hereditary hemochromatosis. Digest. Dis. Sci. 37: 361-363, 1992.
[0028765]19353.Aguilar-Martinez, P.; Bismuth, M.; Picot, M. C.; Thelcide, C.; Pageaux, G.-P.; Blanc, F.; Blanc, P.; Schved, J.-F.; Larrey, D.: Variable phenotypic presentation of iron overload in H63D homozygotes: are genetic modifiers the cause? Gut 48: 836-842, 2001.
[0028766]19354.Anand, S.; Schade, R. R.; Bendetti, C.; Kelly, R.; Rabin, B. S.; Krause, J.; Starzl, T. E.; Iwatsuki, S. I.; Van Thiel, D. H.: Idiopathic alpha-hemochromotosis (sic) and 1-antitrypsin deficiency: coexistence in a family with progressive liver disease in the proband. Hepatology 3: 714-718, 1983.
[0028767]19355.Bahram, S.; Gilfillan, S.; Kuhn, L. C.; Moret, R.; Schulze, J. B.; Lebeau, A.; Schumann, K.: Experimental hemochromatosis due to MHC class I HFE deficiency: immune status and iron metabolism. Proc. Nat. Acad. Sci. 96: 13312-13317, 1999.
[0028768]19356.Balcerzak, S. P.; Westerman, M. P.; Lee, R. E.; Doyle, A. P.: Idiopathic hemochromatosis: a study of three families. Am. J. Med. 40: 857-873, 1966.
[0028769]19357.Barton, J. C.; Acton, R. T.: Inheritance of two HFE mutations in African Americans: cases with hemochromatosis phenotypes and estimates of hemochromatosis phenotype frequency. Genet. Med. 3: 294-300, 2001.
[0028770]19358.Barton, J. C.; McDonnell, S. M.; Adams, P. C.; Brissot, P.; Powell, L. W.; Edwards, C. Q.; Cook, J. D.; Kowdley, K. V.; Hemochromatosis Management Working Group: Management of hemochromatosis. Ann. Intern. Med. 129: 932-939, 1998.
[0028771]19359.Barton, J. C.; Patton, M. A.; Edwards, C. Q.; Griffen, L. M.; Kushner, J. P.; Meeks, R. G.; Leggett, R. W.: Blood lead concentrations in hereditary hemochromatosis. J. Lab. Clin. Med. 124: 193-198, 1994.
[0028772]19360.Barton, J. C.; Rothenberg, B. E.; Bertoli, L. F.; Acton, R. T. : Diagnosis of hemochromatosis in family members of probands: a comparison of phenotyping and HFE genotyping. Genet. Med. 1: 89-93, 1999.
[0028773]19361.Barton, J. C.; Sawada-Hirai, R.; Rothenberg, B. E.; Acton, R. T.: Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands. Blood Cells Molec. Dis. 25: 146-154, 1999.
[0028774]19362.Bassett, M. L.; Doran, T. J.; Halliday, J. W.; Bashir, H. V.; Powell, L. W.: Idiopathic hemochromatosis: demonstration of homozygous-heterozygous mating by HLA typing of families. Hum. Genet. 60: 352-356, 1982.
[0028775]19363.Beaumont, C.; Simon, M.; Fauchet, R.; Hespel, J.-P.; Brissot, P.; Genetet, B.; Bourel, M.: Serum ferritin as a possible marker of the hemochromatosis allele. New Eng. J. Med. 301: 169-174, 1979.
[0028776]19364.Beaumont, C.; Simon, M.; Smith, P. M.; Worwood, M.: Hepatic and serum ferritin concentrations in patients with idiopathic hemochromatosis. Gastroenterology 79: 877-883, 1980.
[0028777]19365.Beckman, L. E.; Saha, N.; Spitsyn, V.; Van Landeghem, G.; Beckman, L.: Ethnic differences in the HFE codon 282 (Cys/Tyr) polymorphism. Hum. Hered. 47: 263-267, 1997.
[0028778]19366.Beutler, E.: Targeted disruption of the HFE gene. Proc. Nat. Acad. Sci. 95: 2033-2034, 1998.
[0028779]19367.Beutler, E.: The significance of the 187G (H63D) mutation in hemochromatosis. (Letter) Am. J. Hum. Genet. 61: 762-764, 1997.
[0028780]19368.Beutler, E.; Felitti, V. J.; Koziol, J. A.; Ho, N. J.; Gelbart, T.: Penetrance of 845G-A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet 359: 211-218, 2002.
[0028781]19369.Beutler, E.; Gelbart, T.: HLA-H mutations in the Ashkenazi Jewish population. Blood Cells Molec. Dis. 23: 95-98, 1997.
[0028782]19370.Beutler, E.; Gelbart, T.; West, C.; Lee, P.; Adams, M.; Blackstone, R.; Pockros, P.; Kosty, M.; Venditti, C. P.; Phatak, P. D.; Seese, N. K.; Chorney, K. A.; Ten Elshof, A. E.; Gerhard, G. S.; Chorney, M.: Mutation analysis in hereditary hemochromatosis. Blood Cells Molec. Dis. 22: 187-194, 1996.
[0028783]19371.Beutler, E.; West, C.; Gelbart, T.: HLA-H and associated proteins in patients with hemochromatosis. Molec. Med. 3: 397-402, 1997.
[0028784]19372.Bodmer, J. G.; Parham, P.; Albert, E. D.; Marsh, S. G. E.: Putting a hold on 'HLA-H.' (Letter) Nature Genet. 15: 234-235, 1997.
[0028785]19373.Borecki, I. B.; Lathrop, G. M.; Bonney, G. E.; Yaouanq, J.; Rao, D. C.: Combined segregation and linkage analysis of genetic hemochromatosis using affection status, serum iron, and HLA. Am. J. Hum. Genet. 47: 542-550, 1990.
[0028786]19374.Borecki, I. B.; Rao, D. C.; Yaouanq, J.; Lalouel, J. M.: Percent transferrin saturation in segregating hemochromatosis. Am. J. Med. Genet. 36: 301-305, 1990.
[0028787]19375.Borecki, I. B.; Rao, D. C.; Yaouanq, J.; Lalouel, J. M.: Segregation of genetic hemochromatosis indexed by latent capacity of transferrin. Am. J. Hum. Genet. 45: 465-470, 1989.
[0028788]19376.Boretto, J.; Jouanolle, A.-M.; Yaouanq, J.; El Kahloun, A.; Mauvieux, V.; Blayau, M.; Perichon, M.; Le Treut, A.; Clayton, J.; Borot, N.; Le Gall, J.-Y.; Pontarotti, P.; David, V.: Anonymous markers located on chromosome 6 in the HLA-A class I region: allelic distribution in genetic haemochromatosis. Hum. Genet. 89: 33-36, 1992.
[0028789]19377.Maroteaux, P.; Leveque, B.; Marie, J.; Lamy, M.: Une nouvelle dysostose avec elimination urinaire de chondroitine-sulfate B. Presse Med. 71: 1849-1852, 1963.
[0028790]19378.McGovern, M. M.; Mandell, N.; Haskins, M.; Desnick, R. J.: Animal model studies of allelism: characterization of arylsulfatase B mutations in homoallelic and heteroallelic (genetic compound) homozygotes with feline mucopolysaccharidosis VI. Genetics 110: 733-749, 1985.
[0028791]19379.Migeon, B. R.; Sprenkle, J. A.; Liebaers, I.; Scott, J. F.; Neufeld, E. F.: X-linked Hunter syndrome: the heterozygous phenotype in cell culture. Am. J. Hum. Genet. 29: 448-454, 1977.
[0028792]19380.Neufeld, E. F.; Muenzer, J.: The mucopolysaccharidoses.In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic and Molecular Bases of Inherited Disease New York: McGraw-Hill (7th ed.): 1995. Pp. 2465-2494.
[0028793]19381.Paterson, D. E.; Rad, M.; Harper, G.; Weston, H. J.; Mattingley, J.: Maroteaux-Lamy syndrome, mild form--MPS VIb. Brit. J. Radiol. 55: 805-812, 1982.
[0028794]19382.Peterson, D. I.; Bacchus, H.; Seaich, L.; Kelly, T. E.: Myelopathy associated with Maroteaux-Lamy syndrome. Arch. Neurol. 32: 127-129, 1975.
[0028795]19383.Poser, C. M.; Ojemann, R. G.; Sobel, R. A.: MGH CPC case 44-1983. New Eng. J. Med. 309: 1109-1117, 1983.
[0028796]19384.Quigley, H. A.; Kenyon, K. R.: Ultrastructural and histochemical studies of a newly recognized form of systemic mucopolysaccharidosis (Maroteaux-Lamy syndrome, mild phenotype). Am. J. Ophthal. 77: 809-818, 1974.
[0028797]19385.Saul, R. A.; Stevenson, R. E.; Taylor, H. A.: Atypical presentation with normal stature in Maroteaux-Lamy syndrome (MPS VI). Proc. Greenwood Genet. Center 3: 49-52, 1984.
[0028798]19386.Schuchman, E. H.; Jackson, C. E.; Desnick, R. J.: Human arylsulfatase B: MOPAC cloning, nucleotide sequence of a full-length cDNA, and regions of amino acid identity with arylsulfatases A and C. Genomics 6: 149-158, 1990.
[0028799]19387.Schwartz, G. P.; Cohen, E. J.: Hydrocephalus in Maroteaux-Lamy syndrome. Arch. Ophthal. 116: 400 only, 1998.
[0028800]19388.Spranger, J. W.; Koch, F.; McKusick, V. A.; Natzschka, J.; Wiedemann, H. R.; Zellweger, H.: Mucopolysaccharidosis VI (Maroteaux-Lamy's disease). Helv. Paediat. Acta 25: 337-362, 1970.
[0028801]19389.Stumpf, D. A.; Austin, J. H.; Crocker, A. C.; LaFrance, M.: Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). I. Sulfatase B deficiency in tissues. Am. J. Dis. Child. 126: 747-755, 1973.
[0028802]19390.Tan, C. T. T.; Schaff, H. V.; Miller, F. A., Jr.; Edwards, W. D.; Karnes, P. S.: Valvular heart disease in four patients with Maroteaux-Lamy syndrome. Circulation 85: 188-195, 1992.
[0028803]19391.Tonnesen, T.; Gregersen, H. N.; Guttler, F.: Normal MPS excretion, but dermatan sulphaturia, combined with a mild Maroteaux-Lamy phenotype. J. Med. Genet. 28: 499-501, 1991.
[0028804]19392.van Dorpe, J.; Moerman, P.; Pecceu, A.; van den Steen, P.; Fryns, J. P.: Non-immune hydrops fetalis caused by beta-glucuronidase deficiency (mucopolysaccharidosis VII): study of a family with 3 affected siblings. Genet. Counsel. 7: 105-112, 1996.
[0028805]19393.Van Dyke, D. L.; Fluharty, A. L.; Schafer, I. A.; Shapiro, L. J.; Kihara, H.; Weiss, L.: Prenatal diagnosis of Maroteaux-Lamy syndrome. Am. J. Med. Genet. 8: 235-242, 1981.
[0028806]19394.Vestermark, S.; Tonnesen, T.; Schultz Andersen, M.; Guttler, F. : Mental retardation in a patient with Maroteaux-Lamy. Clin. Genet. 31: 114-117, 1987.
[0028807]19395.Villani, G. R. D.; Balzano, N.; Vitale, D.; Saviano, M.; Pavone, V. Di Natale, P.: Maroteaux-Lamy syndrome: five novel mutations and their structural localization. Biochim. Biophys. Acta 1453: 185-192, 1999.
[0028808]19396.Vine, D. T.; McGovern, M. M.; Haskins, M. E.; Desnick, R. J.: Feline mucopolysaccharidosis. VI. Purification and characterization of the residual arylsulfatase B activity. Am. J. Hum. Genet. 33: 916-927, 1981.
[0028809]19397.Weller, P. F.; Austen, K. F.: Human eosinophil arylsulfatase B: structure and activity of the purified tetrameric lysosomal hydrolase. J. Clin. Invest. 71: 114-123, 1983.
[0028810]19398.Wicker, G.; Prill, V.; Brooks, D.; Gibson, G.; Hopwood, J.; von Figura, K.; Peters, C.: Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): an intermediate clinical phenotype caused by substitution of valine for glycine at position 137 of arylsulfatase B. J. Biol. Chem. 266: 21386-21391, 1991.
[0028811]19399.Wilson, C. S.; Mankin, H. T.; Pluth, J. R.: Aortic stenosis and mucopolysaccharidosis. Ann. Intern. Med. 92: 496-498, 1980.
[0028812]19400.Yogalingam, G.; Hopwood, J. J.; Crawley, A.; Anson, D. S.: Mild feline mucopolysaccharidosis type VI: identification of an N-acetylgalactosamine-4-sulfatase mutation causing instability and increased specific activity. J. Biol. Chem. 273: 13421-13429, 1998.
[0028813]19401.Yogalingam, G.; Litjens, T.; Bielicki, J.; Crawley, A. C.; Muller, V.; Anson, D. S.; Hopwood, J. J.: Feline mucopolysaccharidosis type VI. J. Biol. Chem. 271: 27259-27265, 1996.
[0028814]19402.Yoshida, M.; Noguchi, J.; Ikadai, H.; Takahashi, M.; Nagase, S. : Arylsulfatase Bdeficient mucopolysaccharidosis in rats. J. Clin. Invest. 91: 1099-1104, 1993.
[0028815]19403.Yoshida, M.; Tachibana, M.; Kobayashi, E.; Ikadai, H.; Kunieda, T.: The locus responsible for mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) is located on rat chromosome 2. Genomics 20: 145-146, 1994.
[0028816]19404.Young, R.; Kleinman, G.; Ojemann, R. G.; Kolodny, E.; Davis, K.; Halperin, J.; Zalneraitis, E.; DeLong, G. R.: Compressive myelopathy in Maroteaux-Lamy syndrome: clinical and pathological findings. Ann. Neurol. 8: 336-340, 1980.
[0028817]19405.Bradley, W. G.; Price, D. L.; Watanabe, C. K.: Familial centronuclear myopathy. J. Neurol. Neurosurg. Psychiat. 33: 687-693, 1970.
[0028818]19406.Touchman, J. W.; Anikster, Y.; Dietrich, N. L.; Braden Maduro, V. V.; McDowell, G.; Shotelersuk, V.; Bouffard, G. G.; Beckstrom-Sternberg, S. M.; Gahl, W. A.; Green, E. D.: The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion. Genome Res. 10: 165-173, 2000.
[0028819]19407.Shapiro, M. B.; Senapathy, P.: RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res. 15: 7155-7174, 1987.
[0028820]19408.Applegarth, D. A.; Toone, J. R.: Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis. Molec. Genet. Metab. 74: 139-146, 2001.
[0028821]19409.Kure, S.; Kojima, K.; Kudo, T.; Kanno, K.; Aoki, Y.; Suzuki, Y.; Shinka, T.; Sakata, Y.; Narisawa, K.; Matsubara, Y.: Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia. J. Hum. Genet. 46: 378-384, 2001.
[0028822]19410.Sakata, Y.; Owada, Y.; Sato, K.; Kojima, K.; Hisanaga, K.; Shinka, T.; Suzuki, Y.; Aoki, Y.; Satoh, J.; Kondo, H.; Matsubara, Y.; Kure, S.: Structure and expression of the glycine cleavage system in rat central nervous system. Molec. Brain Res. 94: 119-130, 2001.
[0028823]19411.Toone, J. R.; Applegarth, D. A.; Coulter-Mackie, M. B.; James, E. R.: Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): a strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH). Molec. Genet. Metab. 72: 322-325, 2001.
[0028824]19412.Bamforth, J. S.; Hughes, I. A.; Lazarus, J. H.; Weaver, C. M.; Harper, P. S.: Congenital hypothyroidism, spiky hair, and cleft palate. J. Med. Genet. 26: 49-60, 1989.
[0028825]19413.Jobard, F.; Lefevre, C.; Karaduman, A.; Blanchet-Bardon, C.; Emre, S.; Weissenbach, J.; Ozguc, M.; Lathrop, M.; Prud'homme, J.-F.; Fischer, J.: Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1. Hum. Molec. Genet. 11: 107-113, 2002.
[0028826]19414.Dinarello, C. A.; Wolff, S. M.; Goldfinger, S. E.; Dale, D. C.; Alling, D. W.: Colchicine therapy for familial Mediterranean fever: a double-blind trial. New Eng. J. Med. 291: 934-937, 1974.
[0028827]19415.Akaboshi, S.; Yano, T.; Miyawaki, S.; Ohno, K.; Takeshita, K.: A C57BL/KsJ mouse model of Niemann-Pick disease (spm) belongs to the same complementation group as the major childhood type of Niemann-Pick disease type C. Hum. Genet. 99: 350-353, 1997.
[0028828]19416.Levy, E. N.; Shen, Y.; Kupelian, A.; Kruglyak, L.; Aksentijevich, I.; Pras, E.; Balow, J. E., Jr.; Linzer, B.; Chen, X.; Shelton, D. A.; Gumucio, D.; Pras, M.; Shohat, M.; Rotter, J. I.; Fischel-Ghodsian, N.; Richards, R. I.; Kastner, D. L.: Linkage disequilibrium mapping places the gene causing familial Mediterranean fever close to D16S246. Am. J. Hum. Genet. 58: 523-534, 1996.
[0028829]19417.Majeed, H. A.; Barakat, M.: Familial Mediterranean fever (recurrent hereditary polyserositis) in children: analysis of 88 cases. Europ. J. Pediat. 148: 636-641, 1989.
[0028830]19418.Varon, R.; Vissinga, C.; Platzer, M.; Cerosaletti, K. M.; Chrzanowska, K. H.; Saar, K.; Beckmann, G.; Seemanova, E.; Cooper, P. R.; Nowak, N. J.; Stumm, M.; Weemaes, C. M. R.; Gatti, R. A.; Wilson, R. K.; Digweed, M.; Rosenthal, A.; Sperling, K.; Concannon, P.; Reis, A. : Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell 93: 467-476, 1998.
[0028831]19419.Becker, J. A.; Vlach, J.; Raben, N.; Nagaraju, K.; Adams, E. M.; Hermans, M. M.; Reuser, A. J. J.; Brooks, S. S.; Tifft, C. J.; Hirschhorn, R.; Huie, M. L.; Nicolino, M.; Plotz, P. H.: The African origin of the common mutation in African American patients with glycogen-storage disease type II. (Letter) Am. J. Hum. Genet. 62: 991-994, 1998.
[0028832]19420.Boerkoel, C. F.; Exelbert, R.; Nicastri, C.; Nichols, R. C.; Miller, F. W.; Plotz, P. H.; Raben, N.: Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II. Am. J. Hum. Genet. 56: 887-897, 1995.
[0028833]19421.Byrne, E.; Dennett, X.; Crotty, B.; Trounce, I.; Sands, J. M.; Hawkins, R.; Hammond, J.; Anderson, S.; Haan, E. A.; Pollard, A.: Dominantly inherited cardioskeletal myopathy with lysosomal glycogen storage and normal acid maltase levels. Brain 109: 523-536, 1986.
[0028834]19422.Friduss, S. R.; Sadoff, W. I.; Hern, A. E.; Fivenson, D. P.: Fatal pyoderma gangrenosum in association with C7 deficiency. J. Am. Acad. Derm. 27: 356-359, 1992.
[0028835]19423.Lee, T. J.; Utsinger, P. D.; Snyderman, R.; Yount, W. J.; Sparling, P. F.: Familial deficiency of the seventh component of complement associated with recurrent bacteremic infections due to Neisseria. J. Infect. Dis. 138: 359-368, 1978.
[0028836]19424.Nakamura, S.; Ooue, O.; Abe, K.: Genetic polymorphism of the seventh component of complement in a Japanese population. Hum. Genet. 66: 279-281, 1984.
[0028837]19425.Nishimukai, H.; Tamaki, Y.: Genetic polymorphism of the seventh component of complement: a new variant. Vox Sang. 51: 60-62, 1986.
[0028838]19426.Nishizaka, H.; Horiuchi, T.; Zhu, Z. B.; Fukumori, Y.; Volanakis, J. E.: Genetic bases of human complement C7 deficiency. J. Immun. 157: 4239-4243, 1996.
[0028839]19427.Nurnberger, W.; Pietsch, H.; Seger, R.; Bufon, T.; Wahn, V.: Familial deficiency of the seventh component of complement associated with recurrent meningococcal infections. Europ. J. Pediat. 148: 758-760, 1989.
[0028840]19428.Petersen, B. H.; Lee, T. J.; Snyderman, R.; Brooks, G. F.: Neisseria meningitidis and Neisseria gonorrhoeae bacteremia associated with C6, C7, or C8 deficiency. Ann. Intern. Med. 90: 917-920, 1979.
[0028841]19429.Rittner, C.; Opferkuch, W.; Wellek, B.; Grosse-Wilde, H.; Wernet, P.: Lack of linkage between gene(s) controlling the synthesis of the seventh component of complement and the HLA region on chromosome no. 6 in man. Hum. Genet. 34: 137-142, 1976.
[0028842]19430.Schlesinger, M.; Nave, Z.; Levy, Y.; Slater, P. E.; Fishelson, Z.: Prevalence of hereditary properdin, C7 and C8 deficiencies in patients with meningococcal infections. Clin. Exp. Immun. 81: 423-427, 1990.
[0028843]19431.Washio, K.; Tokunaga, K.; Omoto, K.; Misawa, S.: Human C7 polymorphism: classification and association analysis with C6. Jpn. J. Hum. Genet. 31: 345-352, 1986.
[0028844]19432.Wurzner, R.; Hobart, M. J.; Orren, A.; Tokunaga, K.; Nitze, R.; Gotze, O.; Lachmann, P. J.: A novel protein polymorphism of human complement C7 detected by a monoclonal antibody. Immunogenetics 35: 398-402, 1992.
[0028845]19433.Wurzner, R.; Nitze, R.; Gotze, O.: C7*9, a new frequent C7 allele detected by an allotype-specific monoclonal antibody. Complement Inflamm. 7: 290-297, 1990.
[0028846]19434.Zimran, A.; Rudensky, B.; Kramer, M. R.; Tedesco, F.; Ehrenfeld, M.; Raz, R.; Greif, Z.; Gelber, M.; Lishner, M.; Golan, E.; Hershko, C.: Hereditary complement deficiency in survivors of meningococcal disease: high prevalence of C7/C8 deficiency in Sephardic (Moroccan) Jews. Quart. J. Med. 63: 349-358, 1987.
[0028847]19435.Hadano, S.; Hand, C. K.; Osuga, H.; Yanagisawa, Y.; Otomo, A.; Devon, R. S.; Miyamoto, N.; Showguchi-Miyata, J.; Okada, Y.; Singaraja, R.; Figlewicz, D. A.; Kwiatkowski, T.; and 9 others: A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nature Genet. 29: 166-173, 2001. Note: Erratum: Nature Genet. 29: 352 only, 2001.
[0028848]19436.Colten, H. R.; Alper, C. A.; Rosen, F. S.: Current concepts in immunology: genetics and biosynthesis of complement proteins. New Eng. J. Med. 304: 653-656, 1981.
[0028849]19437.Howlett, N. G.; Taniguchi, T.; Olson, S.; Cox, B.; Waisfisz, Q.; de Die-Smulders, C.; Persky, N.; Grompe, M.; Joenje, H.; Pals, G.; Ikeda, H.; Fox, E. A.; D'Andrea, A. D.: Biallelic inactivation of BRCA2 in Fanconi anemia. Science 297: 606-609, 2002.
[0028850]19438.Mazoyer, S.; Dunning, A. M.; Serova, O.; Dearden, J.; Puget, N.; Healey, C. S.; Gayther, S. A.; Mangion, J.; Stratton, M. R.; Lynch, H. T.; Goldgar, D. E.; Ponder, B. A.; Lenoir, G. M.: A polymorphic stop codon in BRCA2. Nature Genet. 14: 253-254, 1996.
[0028851]19439.Lowry, R. B.; Applegarth, D. A.; Toone, J. R.; MacDonald, E.; Thunem, N. Y.: An update on the frequency of mucopolysaccharide syndromes in British Columbia. Hum. Genet. 85: 389-390, 1990.
[0028852]19440.ten Hove, T.; Corbaz, A.; Amitai, H.; Aloni, S.; Belzer, I.; Graber, P.; Drillenburg, P.; van Deventer, S. J.; Chvatchko, Y.; Te Velde, A. A.: Blockade of endogenous IL-18 ameliorates TNBSinduced colitis by decreasing local TNF-alpha production in mice. Gastroenterology 121: 1372-1379, 2001.
[0028853]19441.Roux, A.-F.; Rommens, J.; McDowell, C.; Anson-Cartwright, L.; Bell, S.; Schappert, K.; Fishman, G. A.; Musarella, M.: Identification of a gene from Xp21 with similarity to the tctex-1 gene of the murine t complex. Hum. Molec. Genet. 3: 257-263, 1994.
[0028854]19442.Ishikawa, K.; Nagase, T.; Suyama, M.; Miyajima, N.; Tanaka, A.; Kotani, H.; Nomura, N.; Ohara, O.: Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. DNA Res. 5: 169-176, 1998.
[0028855]19443.Kipreos, E. T.; Lander, L. E.; Wing, J. P.; He, W. W.; Hedgecock, E. M.: cul-1 is required for cell cycle exit in C. elegans and identifies a novel gene family. Cell 85: 829-839, 1996.
[0028856]19444.Rasooly, R. S.: Personal Communication. Baltimore, Md. 9/29/1998.
[0028857]19445.Wang, P. J.; McCarrey, J. R.; Yang, F.; Page, D. C.: An abundance of X-linked genes expressed in spermatogonia. Nature Genet. 27: 422-426, 2001.
[0028858]19446.Herold, A.; Suyama, M.; Rodrigues, J. P.; Braun, I. C.; Kutay, U.; Carmo-Fonseca, M.; Bork, P.; Izaurralde, E.: TAP (NXF1) belongs to a multigene family of putative RNA export factors with a conserved modular architecture. Molec. Cell. Biol. 20: 8996-9008, 2000.
[0028859]19447.Yang, J.; Bogerd, H. P.; Wang, P. J.; Page, D. C.; Cullen, B. R. : Two closely related human nuclear export factors utilize entirely distinct export pathways. Molec. Cell 8: 397-406, 2001.
[0028860]19448.Ikeda, M.; Ishida, O.; Hinoi, T.; Kishida, S.; Kikuchi, A.: Identification and characterization of a novel protein interacting with Ral-binding protein 1, a putative effector protein of Ral. J. Biol. Chem. 273: 814-821, 1998.
[0028861]19449.Koshiba, S.; Kigawa, T.; Iwahara, J.; Kikuchi, A.; Yokoyama, S. : Solution structure of the Eps15 homology domain of a human POB1 (partner of RalBP1). FEBS Lett. 442: 138-142, 1999.
[0028862]19450.Crackower, M. A.; Sarao, R.; Oudit, G. Y.; Yagil, C.; Kozieradzki, I.; Scanga, S. E.; Oliveira-dos-Santos, A. J.; da Costa, J.; Zhang, L.; Pei, Y.; Scholey, J.; Ferrario, C. M.; Manoukian, A. S.; Chappell, M. C.; Backx, P. H.; Yagil, Y.; Penninger, J. M.: Angiotensin-converting enzyme 2 is an essential regulator of heart function. Nature 417: 822-828, 2002.
[0028863]19451.Scanlan, M. J.; Gordan, J. D.; Williamson, B.; Stockert, E.; Bander, N. H.; Jongeneel, V.; Gure, A. O.; Jager, D.; Jager, E.; Knuth, A.; Chen, Y.-T.; Old, L. J.: Antigens recognized by autologous antibody in patients with renal-cell carcinoma. Int. J. Cancer 83: 456-464, 1999.
[0028864]19452.Yan, Z.; Fedorov, S. A.; Mumby, M. C.; Williams, R. S.: PR48, a novel regulatory subunit of protein phosphatase 2A, interacts with Cdc6 and modulates DNA replication in human cells. Molec. Cell. Biol. 20: 1021-1029, 2000.
[0028865]19453.Gitzelmann, R.: Hereditary galactokinase deficiency, a newly recognized cause of juvenile cataracts. Pediat. Res. 1: 14-23, 1967.
[0028866]19454.Kalaydjieva, L.; Perez-Lezaun, A.; Angelicheva, D.; Onengut, S.; Dye, D.; Bosshard, N. U.; Jordanova, A.; Savov, A.; Yanakiev, P.; Kremensky, I.; Radeva, B.; Hallmayer, J.; Markov, A.; Nedkova, V.; Tournev, I.; Aneva, L.; Gitzelmann, R.: A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies). Am. J. Hum. Genet. 65: 1299-1307, 1999.
[0028867]19455.Kim, Y. J.; Rosenberg, L. E.: On the mechanism of pyridoxine responsive homocystinuria. II. Properties of normal and mutant cystathionine beta-synthase from cultured fibroblasts. Proc. Nat. Acad. Sci. 71: 4821-4825, 1974.
[0028868]19456.Kluijtmans, L. A. J.; Boers, G. H. J.; Kraus, J. P.; van den Heuvel, L. P. W. J.; Cruysberg, J. R. M.; Trijbels, F. J. M.; Blom, H. J. : The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment. Am. J. Hum. Genet. 65: 59-67, 1999.
[0028869]19457.Kluijtmans, L. A. J.; Boers, G. H. J.; Stevens, E. M. B.; Renier, W. O.; Kraus, J. P.; Trijbels, F. J. M.; van den Heuvel, L. P. W. J.; Blom, H. J.: Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient. J. Clin. Invest. 98: 285-289, 1996.
[0028870]19458.Komrower, G. M.: Dietary treatment of homocystinuria. Am. J. Dis. Child. 113: 98-100, 1967.
[0028871]19459.Kozich, V.; de Franchis, R.; Kraus, J. P.: Molecular defect in a patient with pyridoxineresponsive homocystinuria. Hum. Molec. Genet. 2: 815-816, 1993.
[0028872]19460.Kozich, V.; Kraus, E.; de Franchis, R.; Fowler, B.; Boers, G. H. J.; Graham, I.; Kraus, J. P.: Hyperhomocysteinemia in premature arterial disease: examination of cystathionine beta-synthase alleles at the molecular level. Hum. Molec. Genet. 4: 623-629, 1995.
[0028873]19461.Kozich, V.; Kraus, J. P.: Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency. Hum. Mutat. 1: 113-123, 1992.
[0028874]19462.Kraus, J.; Packman, S.; Fowler, B.; Rosenberg, L. E.: Purification and properties of cystathionine beta-synthase from human liver: evidence for identical subunits. J. Biol. Chem. 253: 6523-6528, 1978.
[0028875]19463.Kluijtmans, L. A. J.; van den Heuvel, L. P. W. J.; Boers, G. H. J.; Frosst, P.; Stevens, E. M. B.; van Oost, B. A.; den Heijer, M.; Trijbels, F. J. M.; Rozen, R.; Blom, H. J.: Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease. Am. J. Hum. Genet. 58: 35-41, 1996.
[0028876]19464.Kraus, J. P.: Molecular basis of phenotype expression in homocystinuria. J. Inherit. Metab. Dis. 17: 383-390, 1994.
[0028877]19465.Kraus, J. P.; Janosik, M.; Kozich, V.; Mandell, R.; Shih, V.; Sperandeo, M. P.; Sebastio, G.; de Franchis, R.; Andria, G.; Kluijtmans, L. A. J.; Blom, H.; Boers, G. H. J.; Gordon, R. B.; Kamoun, P.; Tsai, M. Y.; Kruger, W. D.; Koch, H. G.; Ohura, T.; Gaustadnes, M.: Cystathionine betasynthase mutations in homocystinuria. Hum. Mutat. 13: 362-375, 1999.
[0028878]19466.Kraus, J. P.; Oliveriusova, J.; Sokolova, J.; Kraus, E.; Vlcek, C.; de Franchis, R.; Maclean, K. N.; Bao, L.; Bukovska, G.; Patterson, D.; Paces, V.; Ansorge, W.; Kozich, V.: The human cystathionine beta-synthase (CBS) gene: complete sequence, alternative splicing, and polymorphisms. Genomics 52: 312-324, 1998.
[0028879]19467.Kruger, W. D.; Cox, D. R.: A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene. Hum. Molec. Genet. 4: 1155-1161, 1995.
[0028880]19468.Kruger, W. D.; Cox, D. R.: A yeast system for expression of human cystathionine betasynthase: structural and functional conservation of the human and yeast genes. Proc. Nat. Acad. Sci. 91: 6614-6618, 1994.
[0028881]19469.Kurczynski, T. W.; Muir, W. A.; Fleisher, L. D.; Palomaki, J. F.; Gaull, G. E.; Rassin, D. K.; Abramowsky, C.: Maternal homocystinuria: studies of an untreated mother and fetus. Arch. Dis. Child. 55: 721-723, 1980.
[0028882]19470.Loughridge, L. W.: Renal abnormalities in the Marfan syndrome. Quart. J. Med. 112: 531-544, 1959.
[0028883]19471.Lubec, B.; Fang-Kircher, S.; Lubec, T.; Blom, H. J.; Boers, G. H. J.: Evidence for McKusick's hypothesis of deficient collagen cross-linking in patients with homocystinuria. Biochim. Biophys. Acta 1315: 159-162, 1996.
[0028884]19472.Maclean, K. N.; Gaustadnes, M.; Oliveriusova, J.; Janosik, M.; Kraus, E.; Kozich, V.; Kery, V.; Skovby, F.; Rudiger, N.; Ingerslev, J.; Stabler, S. P.; Allen, R. H.; Kraus, J. P.: High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations. Hum. Mutat. 19: 641-655, 2002.
[0028885]19473.Malinow, M. R.; Stampfer, M. J.: Role of plasma homocyst(e)ine in arterial occlusive disease. (Editorial) Clin. Chem. 40: 857-858, 1994.
[0028886]19474.Mandel, H.; Brenner, B.; Berant, M.; Rosenberg, N.; Lanir, N.; Jakobs, C.; Fowler, B.; Seligsohn, U.: Coexistence of hereditary homocystinuria and factor V Leiden: effect on thrombosis. New Eng. J. Med. 334: 763-768, 1996.
[0028887]19475.McCully, K. S.; Ragsdale, B. D.: Production of arteriosclerosis by homocystinuria. Am. J. Path. 61: 1-12, 1970.
[0028888]19476.McKusick, V. A.: Heritable Disorders of Connective Tissue St. Louis: C. V. Mosby (pub.) (3rd ed.): 1966. Pp. 155.
[0028889]19477.Mudd, S. H.: Vascular disease and homocysteine metabolism. (Editorial) New Eng. J. Med. 313: 751-753, 1985.
[0028890]19478.Mudd, S. H.; Edwards, W. A.; Loeb, P. M.; Brown, M. S.; Laster, L.: Homocystinuria due to cystathionine synthase deficiency: the effect of pyridoxine. J. Clin. Invest. 49: 1762-1773, 1970.
[0028891]19479.Mudd, S. H.; Finkelstein, J. D.; Irreverre, F.; Laster, L.: Homocystinuria: an enzymatic defect. Science 143: 1443-1445, 1964.
[0028892]19480.Mudd, S. H.; Havlik, R.; Levy, H. L.; McKusick, V. A.; Feinleib, M.: A study of cardiovascular risk in heterozygotes for homocystinuria. Am. J. Hum. Genet. 33: 883-893, 1981.
[0028893]19481.Mudd, S. H.; Levy, H. L.: Disorders of transulfuration.In: Stanbury, J. B.; Wyngaarden, J. B.; Fredrickson, D. S.: Metabolic Basis of Inherited Disease. New York: McGraw-Hill (pub.) (4th ed.): 1978. Pp. 458-503.
[0028894]19482.Hsieh, C. L.; Leto, T. L.; Lomax, K. J.; Malech, H. L.; Francke, U.: The genes for two neutrophil cytosol factors that are deficient in autosomal forms of chronic granulomatous disease are on human chromosome 10 (47 kD), and chromosome 1 cen-q32 (65 kD). (Abstract) Cytogenet. Cell Genet. 51: 1015-1016, 1989.
[0028895]19483.Karnovsky, M. L.: Steps toward an understanding of chronic granulomatous disease. (Editorial) New Eng. J. Med. 308: 274-275, 1983.
[0028896]19484.Segal, A. W.: Variations on the theme of chronic granulomatous disease. Lancet I: 1378-1383, 1985.
[0028897]19485.Segal, A. W.: The molecular and cellular pathology of chronic granulomatous disease. Europ. J. Clin. Invest. 18: 433-443, 1988.
[0028898]19486.Aoshima, M.; Nunoi, H.; Shimazu, M.; Shimizu, S.; Tatsuzawa, O.; Kenney, R. T.; Kanegasaki, S.: Two-exon skipping due to a point mutation in p67-phox-deficient chronic granulomatous disease. Blood 88: 1841-1845, 1996.
[0028899]19487.Bonizzato, A.; Russo, M. P.; Donini, M.; Dusi, S.: Identification of a double mutation (D160V-K161E) (sic) in the p67phox gene of a chronic granulomatous disease patient. Biochem. Biophys. Res. Commun. 231: 861-863, 1997.
[0028900]19488.de Boer, M.; Hilarius-Stokman, P. M.; Hossle, J.-P.; Verhoeven, A. J.; Graf, N.; Kenney, R. T.; Seger, R.; Roos, D.: Autosomal recessive chronic granulomatous disease with absence of the 67-kD cytosolic NADPH oxidase component: identification of mutation and detection of carriers. Blood 83: 531-536, 1994.
[0028901]19489.Dancis, J.; Hutzler, J.; Woody, N. C.; Cox, R. P.: Multiple enzyme defects in familial hyperlysinemia. Pediat. Res. 10: 686-691, 1976.
[0028902]19490.Fischer, A. Q.; Challa, V. R.; Burton, B. K.; McLean, W. T.: Cerebellar hemorrhage complicating isovaleric acidemia: a case report. Neurology 31: 746-748, 1981.
[0028903]19491.Sacksteder, K. A.; Biery, B. J.; Morrell, J. C.; Goodman, B. K.; Geisbrecht, B. V.; Cox, R. P.; Gould, S. J.; Geraghty, M. T.: Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia. Am. J. Hum. Genet. 66: 1736-1743, 2000.
[0028904]19492.Gerdes, A.-M.; Gregersen, N.; Ludvigsson, P.; Guttler, F.: A Scandinavian case of isovaleric acidaemia. J. Inherit. Metab. Dis. 11: 219-220, 1988.
[0028905]19493.Ikeda, Y.; Keese, S. M.; Tanaka, K.: Molecular heterogeneity of variant isovaleryl-CoA dehydrogenase from cultured isovaleric acidemia fibroblasts. Proc. Nat. Acad. Sci. 82: 7081-7085, 1985.
[0028906]19494.Kelleher, J. F., Jr.; Yudkoff, M.; Hutchinson, R.; August, C. S.; Cohn, R. M.: The pancytopenia of isovaleric acidemia. Pediatrics 65: 1023-1027, 1980.
[0028907]19495.Naglak, M.; Salvo, R.; Madsen, K.; Dembure, P.; Elsas, L.: The treatment of isovaleric acidemia with glycine supplement. Pediat. Res. 24: 9-13, 1988.
[0028908]19496.Newman, C. G. H.; Wilson, B. D. R.; Callaghan, P.; Young, L.: Neonatal death associated with isovalericacidaemia. Lancet II: 439-441, 1967.
[0028909]19497.Rhead, W. J.; Tanaka, K.: Demonstration of a specific mitochondrial isovaleryl-CoA dehydrogenase deficiency in fibroblasts from patients with isovaleric acidemia. Proc. Nat. Acad. Sci. 77: 580-583, 1980.
[0028910]19498.Sidbury, J. B., Jr.; Smith, E. K.; Harlan, W.: An inborn error of short-chain fatty acid metabolism: the odor-of-sweaty-feet syndrome. J. Pediat. 70: 8-15, 1967.
[0028911]19499.Tanaka, K.; Budd, M. A.; Efron, M. L.; Isselbacher, K. J.: Isovaleric acidemia: a new genetic defect of leucine metabolism. Proc. Nat. Acad. Sci. 56: 236-242, 1966.
[0028912]19500.Tanaka, K.; Orr, J.; Isselbacher, K. J.: Identification of b-hydroxyisovaleric acid in the urine of a patient with isovaleric acidemia. Biochim. Biophys. Acta 152: 638-641, 1968.
[0028913]19501.Vockley, J.; Parimoo, B.; Tanaka, K.: Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia. Am. J. Hum. Genet. 49: 147-157, 1991.
[0028914]19502.Mohandas, T. K.; Chen, X.-N.; Rowe, L. B.; Birkenmeier, E. H.; Fanning, A. S.; Anderson, J. M.; Korenberg, J. R.: Localization of the tight junction protein gene TJP1 to human chromosome 15q13, distal to the Prader-Willi/Angelman region, and to mouse chromosome 7. Genomics 30: 594-597, 1995.
[0028915]19503.Willott, E.; Balda, M. S.; Fanning, A. S.; Jameson, B.; Van Itallie, C.; Anderson, J. M.: The tight junction protein ZO-1 is homologous to the Drosophila discs-large tumor suppressor protein of septate junctions. Proc. Nat. Acad. Sci. 90: 7834-7838, 1993.
[0028916]19504.Blanar, M. A.; Crossley, P. H.; Peters, K. G.; Steingrimsson, E.; Copeland, N. G.; Jenkins, N. A.; Martin, G. R.; Rutter, W. J.: Meso1, a basic helix-loop-helix protein involved in mammalian presomitic mesoderm development. Proc. Nat. Acad. Sci. 92: 5870-5874, 1995.
[0028917]19505.Burgess, R.; Rawls, A.; Brown, D.; Bradley, A.; Olson, E. N.: Requirement of the paraxis gene for somite formation and musculoskeletal patterning. Nature 384: 570-573, 1996.
[0028918]19506.Hidai, H.; Quertermous, E. E.; Espinosa, R., III; Le Beau, M. M.; Quertermous, T.: Genomic organization and chromosomal localization of the gene TCF15 encoding the early mesodermal basic helix-loop-helix factor bHLH-EC2. Genomics 30: 598-601, 1995.
[0028919]19507.Quertermous, E. E.; Hidai, H.; Blanar, M. A.; Quertermous, T.: Cloning and characterization of a basic helix-loop-helix protein expressed in early mesoderm and the developing somites. Proc. Nat. Acad. Sci. 91: 7066-7070, 1994.
[0028920]19508.Quertermous, T.: Personal Communication. Nashville, Tenn. 1/22/1996.
[0028921]19509.Clevidence, D. E.; Overdier, D. G.; Peterson, R. S.; Porcella, A.; Ye, H.; Paulson, K. E.; Costa, R. H.: Members of the HNF-3/forkhead family of transcription factors exhibit distinct cellular expression patterns in lung and regulate the surfactant protein B promoter. Dev. Biol. 166: 195-209, 1994.
[0028922]19510.Hellqvist, M.; Mahlapuu, M.; Blixt, A.; Enerback, S.; Carlsson, P.: The human forkhead protein FREAC-2 contains two functionally redundant activation domains and interacts with TBP and TFIIB. J. Biol. Chem. 273: 23335-23343, 1998.
[0028923]19511.Hellqvist, M.; Mahlapuu, M.; Samuelsson, L.; Enerback, S.; Carlsson, P.: Differential activation of lung-specific genes by two forkhead proteins, FREAC-1 and FREAC-2. J. Biol. Chem. 271: 4482-4490, 1996.
[0028924]19512.Larsson, C.; Hellqvist, M.; Pierrou, S.; White, I.; Enerback, S.; Carlsson, P.: Chromosomal localization of six human forkhead genes, freac-1 (FKHL5), -3 (FKHL7), -4 (FKHL8), -5 (FKHL9), -6 (FKHL10), and -8 (FKHL12). Genomics 30: 464-469, 1995.
[0028925]19513.Pierrou, S.; Hellqvist, M.; Samuelsson, L.; Enerback, S.; Carlsson, P.: Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending. EMBO J. 13: 5002-5012, 1994.
[0028926]19514.Ernstsson, S.; Pierrou, S.; Hulander, M.; Cederberg, A.; Hellqvist, M.; Carlsson, P.; Enerback, S.: Characterization of the human forkhead gene FREAC-4. J. Biol. Chem. 271: 21094-21099, 1996.
[0028927]19515.Lorenzetti, D.; Pareyson, D.; Sghirlanzoni, A.; Roa, B. B.; Abbas, N. E.; Pandolfo, M.; Di Donato, S.; Lupski, J. R.: A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies. Am. J. Hum. Genet. 56: 91-98, 1995.
[0028928]19516.Lupski, J. R.; Garcia, C. A.; Parry, G. J.; Patel, P. I.: Charcot-Marie-Tooth polyneuropathy syndrome: clinical, electrophysiological, and genetic aspects.In: Appel, S.: Current Neurology. Chicago: Mosby-Yearbook (pub.) 1991. Pp. 1-25.
[0028929]19517.Lupski, J. R.; Pentao, L.; Williams, L. L.; Patel, P. I.: Stable inheritance of the CMT1A DNA duplication in two patients with CMT1 and NF1. Am. J. Med. Genet. 45: 92-96, 1993.
[0028930]19518.Lupski, J. R.; Wise, C. A.; Kuwano, A.; Pentao, L.; Parke, J. T.; Glaze, D. G.; Ledbetter, D. H.; Greenberg, F.; Patel, P. I.: Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A. Nature Genet. 1: 29-33, 1992.
[0028931]19519.MacMillan, J. C.; Upadhyaya, M.; Harper, P. S.: Charcot-Marie-Tooth disease type 1a (CMT1a): evidence for trisomy of the region p11.2 of chromosome 17 in south Wales families. J. Med. Genet. 29: 12-13, 1992.
[0028932]19520.Manfioletti, G.; Ruaro, M. E.; Del Sal, G.; Philipson, L.; Schneider, C.: A growth arrest-specific (gas) gene codes for a membrane protein. Molec. Cell. Biol. 10: 2924-2930, 1990.
[0028933]19521.Marques, W., Jr.; Thomas, P. K.; Sweeney, M. G.; Carr, L.; Wood, N. W.: Dejerine-Sottas neuropathy and PMP22 point mutations: a new base pair substitution and a possible "hot spot" on ser72. Ann. Neurol. 43: 680-683, 1998.
[0028934]19522.Martinotti, A.; Cariani, C. T.; Melani, C.; Sozzi, G.; Spurr, N. K.; Pierotti, M. A.; Colombo, M. P.: Isolation and mapping to 17p12-13 of the human homologous of the murine growth arrest specific Gas-3 gene. Hum. Molec. Genet. 1: 331-334, 1992.
[0028935]19523.Matise, T. C.; Chakravarti, A.; Patel, P. I.; Lupski, J. R.; Nelis, E.; Timmerman, V.; Van Broeckhoven, C.; Weeks, D. E.: Detection of tandem duplications and implications for linkage analysis. Am. J. Hum. Genet. 54: 1110-1121, 1994.
[0028936]19524.Matsunami, N.; Smith, B.; Ballard, L.; Lensch, M. W.; Robertson, M.; Albertsen, H.; Hanemann, C. O.; Muller, H. W.; Bird, T. D.; White, R.; Chance, P. F.: Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A. Nature Genet. 1: 176-179, 1992.
[0028937]19525.Nelis, E.; De Jonghe, P.; De Vriendt, E.; Patel, P. I.; Martin, J.-J.; Van Broeckhoven, C.: Mutation analysis of the nerve specific promoter of the peripheral myelin protein 22 gene in CMT1 disease and HNPP. J. Med. Genet. 35: 590-593, 1998.
[0028938]19526.Nicholson, G. A.; Valentijn, L. J.; Cherryson, A. K.; Kennerson, M. L.; Bragg, T. L.; DeKroon, R. M.; Ross, D. A.; Pollard, J. D.; Mcleod, J. G.; Bolhuis, P. A.; Baas, F.: A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies. Nature Genet. 6: 263-266, 1994.
[0028939]19527.Niemann, S.; Sereda, M. W.; Suter, U.; Griffiths, I. R.; Nave, K.-A.: Uncoupling of myelin assembly and Schwann cell differentiation by transgenic overexpression of peripheral myelin protein 22. J. Neurosci. 20: 4120-4128, 2000.
[0028940]19528.Palau, F.; Lofgren, A.; De Jonghe, P.; Bort, S.; Nelis, E.; Sevilla, T.; Martin, J.-J.; Vilchez, J.; Prieto, F.; Van Broeckhoven, C.: Origin of the de novo duplication in Charcot-Marie-Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis. Hum. Molec. Genet. 2: 2031-2035, 1993.
[0028941]19529.Patel, P. I.; Roa, B. B.; Welcher, A. A.; Schoener-Scott, R.; Trask, B. J.; Pentao, L.; Snipes, G. J.; Garcia, C. A.; Francke, U.; Shooter, E. M.; Lupski, J. R.; Suter, U.: The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nature Genet. 1: 159-165, 1992.
[0028942]19530.Pentao, L.; Wise, C. A.; Chinault, A. C.; Patel, P. I.; Lupski, J. R.: Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. Nature Genet. 2: 292-300, 1992.
[0028943]19531.Raeymaekers, P.; Timmerman, V.; Nelis, E.; De Jonghe, P.; Hoogendijk, J. E.; Baas, F.; Barker, D. F.; Martin, J. J.; De Visser, M.; Bolhuis, P. A.; Van Broeckhoven, C.; HMSN Collaborative Research Group: Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). Neuromusc. Disord. 1: 93-97, 1991.
[0028944]19532.Raeymaekers, P.; Timmerman, V.; Nelis, E.; Van Hul, W.; De Jonghe, P.; Martin, J.-J.; Van Broeckhoven, C.; HMSN Collaborative Research Group: Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). J. Med. Genet. 29: 5-11, 1992.
[0028945]19533.Reiter, L. T.; Hastings, P. J.; Nelis, E.; De Jonghe, P.; Van Broeckhoven, C.; Lupski, J. R.: Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients. Am. J. Hum. Genet. 62: 1023-1033, 1998.
[0028946]19534.Reiter, L. T.; Murakami, T.; Koeuth, T.; Pentao, L.; Muzny, D. M.; Gibbs, R. A.; Lupski, J. R.: A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. Nature Genet. 12: 288-297, 1996. Note: Erratum: Nature Genet. 19: 303 only, 1998.
[0028947]19535.Roa, B. B.; Garcia, C. A.; Pentao, L.; Killian, J. M.; Trask, B. J.; Suter, U.; Snipes, G. J.; Ortiz-Lopez, R.; Shooter, E. M.; Patel, P. I.; Lupski, J. R.: Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A. Nature Genet. 5: 189-194, 1993.
[0028948]19536.Roa, B. B.; Garcia, C. A.; Suter, U.; Kulpa, D. A.; Wise, C. A.; Mueller, J.; Welcher, A. A.; Snipes, G. J.; Shooter, E. M.; Patel, P. I.; Lupski, J. R.: Charcot-Marie-Tooth disease type 1A: association with a spontaneous point mutation in the PMP22 gene. New Eng. J. Med. 329: 96-101, 1993.
[0028949]19537.LeGuern, E.; Gouider, R.; Lopes, J.; Abbas, N.; Gugenheim, M.; Tardieu, S.; Ravise, N.; Leger, J.-M.; Vallat, J.-M.; Bouche, P.; Agid, Y.; Brice, A.; French CMT Collaborative Research Group: Constant rearrangement of the CMT1A-REP sequences in HNPP patients with a deletion in chromosome 17p11.2: a study of 30 unrelated cases. Hum. Molec. Genet. 4: 1673-1674, 1995.
[0028950]19538.De Smaele, E.; Zazzeroni, F.; Papa, S.; Nguyen, D. U.; Jin, R.; Jones, J.; Cong, R.; Franzoso, G.: Induction of gadd45-beta by NF-kappa-B downregulates pro-apoptotic JNK signaling. Nature 414: 308-313, 2001.
[0028951]19539.Garcia-Cardena, G.; Martasek, P.; Masters, B. S. S.; Skidd, P. M.; Couet, J. C.; Li, S.; Lisanti, M. P.; Sessa, W. C.: Dissecting the interaction between nitric oxide synthase (NOS) and caveolin: functional significance of the NOS caveolin binding domain in vivo. J. Biol. Chem. 272: 25437-25440, 1997.
[0028952]19540.Isom, L. L.; Ragsdale, D. S.; De Jongh, K. S.; Westenbroek, R. E.; Reber, B. F. X.; Scheuer, T.; Catterall, W. A.: Structure and function of the beta-2 subunit of brain sodium channels, a transmembrane glycoprotein with a CAM motif. Cell 83: 433-442, 1995.
[0028953]19541.Mattei, M. G.; Stoetzel, C.; Perrin-Schmitt, F.: The B-HLH protein encoding the Mtwist gene is located by in situ hybridization on murine chromosome 12. Mammalian Genome 4: 127-128, 1993.
[0028954]19542.Rose, C. S. P.; Patel, P.; Reardon, W.; Malcolm, S.; Winter, R. M.: The TWIST gene, although not disrupted in Saethre-Chotzen patients with apparently balanced translocations of 7p21, is mutated in familial and sporadic cases. Hum. Molec. Genet. 6: 1369-1373, 1997.
[0028955]19543.Shishido, E.; Higashijima, S.; Emori, Y.; Saigo, K.: Two FGF-receptor homologues of Drosophila: one is expressed in mesodermal primordium in early embryos. Development 117: 751-761, 1993.
[0028956]19544.Struhl, K.: Histone acetylation and transcriptional regulatory mechanisms. Genes Dev. 12: 599-606, 1998.
[0028957]19545.Tsuji, K.; Narahara, K.; Yokoyama, Y.; Grzeschik, K.-H.; Kunz, J.: The breakpoint on 7p in a patient with t(6;7) and craniosynostosis is spanned by a YAC clone containing the D7S503 locus. Hum. Genet. 95: 303-307, 1995.
[0028958]19546.Yousfi, M.; Lasmoles, F.; El Ghouzzi, V.; Marie, P. J.: Twist haploinsufficiency in Saethre-Chotzen syndrome induces calvarial osteoblast apoptosis due to increased TNF expression and caspase-2 activation. Hum. Molec. Genet. 11: 359-369, 2002.
[0028959]19547.Albrecht, U.; Sutcliffe, J. S.; Cattanach, B. M.; Beechey, C. V.; Armstrong, D.; Eichele, G.; Beaudet, A. L.: Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons. Nature Genet. 17: 75-78, 1997.
[0028960]19548.Fang, P.; Lev-Lehman, E.; Tsai, T.-F.; Matsuura, T.; Benton, C. S.; Sutcliffe, J. S.; Christian, S. L.; Kubota, T.; Halley, D. J.; Meijers-Heijboer, H.; Langlois, S.; Graham, J. M., Jr.; Beuten, J.; Willems, P. J.; Ledbetter, D. H.; Beaudet, A. L.: The spectrum of mutations in UBE3A causing Angelman syndrome. Hum. Molec. Genet. 8: 129-135, 1999.
[0028961]19549.Fung, D. C. Y.; Yu, B.; Cheong, K. F.; Smith, A.; Trent, R. J. : UBE3A 'mutations' in two unrelated and phenotypically different Angelman syndrome patients. Hum. Genet. 102: 487-492, 1998.
[0028962]19550.Huang, L.; Kinnucan, E.; Wang, G.; Beaudenon, S.; Howley, P. M.; Huibregtse, J. M.; Pavletich, N. P.: Structure of an E6AP-UbcH7 complex: insights into ubiquitination by the E2-E3 enzyme cascade. Science 286: 1321-1326, 1999.
[0028963]19551.Huibregtse, J. M.; Scheffner, M.; Howley, P. M.: A cellular protein mediates association of p53 with the E6 oncoprotein of human papillomavirus types 16 or 18. EMBO J. 10: 4129-4135, 1991.
[0028964]19552.Huibregtse, J. M.; Scheffner, M.; Howley, P. M.: Cloning and expression of the cDNA for E6-AP, a protein that mediates the interaction of the human papillomavirus E6 oncoprotein with p53. Molec. Cell. Biol. 13: 775-784, 1993.
[0028965]19553.Kishino, T.; Wagstaff, J.: Genomic organization of the UBE3A/E6-AP gene and related pseudogenes. Genomics 47: 101-107, 1998.
[0028966]19554.Malzac, P.; Webber, H.; Moncla, A.; Graham, J. M., Jr.; Kukolich, M.; Williams, C.; Pagon, R. A.; Ramsdell, L. A.; Kishino, T.; Wagstaff, J.: Mutation analysis of UBE3A in Angelman syndrome patients. Am. J. Hum. Genet. 62: 1353-1360, 1998.
[0028967]19555.Rougeulle, C.; Glatt, H.; Lalande, M.: The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain. (Letter) Nature Genet. 17: 14-15, 1997.
[0028968]19556.Dong, C.; Yang, D. D.; Tournier, C.; Whitmarsh, A. J.; Xu, J.; Davis, R. J.; Flavell, R. A.: JNK is required for effector T-cell function but not for T-cell activation. Nature 405: 91-94, 2000.
[0028969]19557.Gupta, S.; Barrett, T.; Whitmarsh, A. J.; Cavanagh, J.; Sluss, H. K.; Derijard, B.; Davis, R. J.: Selective interaction of JNK protein kinase isoforms with transcription factors. EMBO J. 15: 2760-2770, 1996.
[0028970]19558.Tournier, C.; Hess, P.; Yang, D. D.; Xu, J.; Turner, T. K.; Nimnual, A.; Bar-Sagi, D.; Jones, S. N.; Flavell, R. A.; Davis, R. J.: Requirement of JNK for stress-induced activation of the cytochrome c-mediated death pathway. Science 288: 870-874, 2000.
[0028971]19559.Daugherty, B. L.; Springer, M. S.: The beta-chemokine receptor genes CCR1 (CMKBR1), CCR2 (CMKBR2), and CCR3 (CMKBR3) cluster within 285 kb on human chromosome 3p21. Genomics 41: 294-295, 1997.
[0028972]19560.Ayyanathan, K.; Naylor, S. L.; Kunapuli, S. P.: Structural characterization and fine chromosomal mapping of the human P2Y(1) purinergic receptor gene (P2RY1). Somat. Cell Molec. Genet. 22: 419-424, 1996.
[0028973]19561.Ayyanathan, K.; Webbs, T. E.; Sandhu, A. K.; Athwal, R. S.; Barnard, E. A.; Kunapuli, S. P.: Cloning and chromosomal localization of the human P2Y1 purinoceptor. Biochem. Biophys. Res. Commun. 218: 783-788, 1996.
[0028974]19562.Leon, C.; Hechler, B.; Freund, M.; Eckly, A.; Vial, C.; Ohlmann, P.; Dierich, A.; LeMeur, M.; Cazenave, J.-P.; Gachet, C.: Defective platelet aggregation and increased resistance to thrombosis in purinergic P2Y1 receptor-null mice. J. Clin. Invest. 104: 1731-1737, 1999.
[0028975]19563.Leon, C.; Hechler, B.; Vial, C.; Leray, C.; Cazenave, J.-P.; Gachet, C.: The P2Y(1) receptor is an ADP receptor antagonized by ATP and expressed in platelets and megakaryoblastic cells. FEBS Letts. 403: 26-30, 1997.
[0028976]19564.Leon, C.; Vial, C.; Cazenave, J.-P.; Gachet, C.: Cloning and sequencing of a human cDNA encoding endothelial P2Y1 purinoceptor. Gene 171: 295-297, 1996.
[0028977]19565.Hagiwara, Y.; Sasaoka, T.; Araishi, K.; Imamura, M.; Yorifuji, H.; Nonaka, I.; Ozawa, E.; Kikuchi, T.: Caveolin-3 deficiency causes muscle degeneration in mice. Hum. Molec. Genet. 9: 3047-3054, 2000.
[0028978]19566.Herrmann, R.; Straub, V.; Blank, M.; Kutzick, C.; Franke, N.; Jacob, E. N.; Lenard, H.-G.; Kroger, S.; Voit, T.: Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy. Hum. Molec. Genet. 9: 2335-2340, 2000.
[0028979]19567.Matsuda, C.; Hayashi, Y. K.; Ogawa, M.; Aoki, M.; Murayama, K.; Nishino, I.; Nonaka, I.; Arahata, K.; Brown, R. H., Jr.: The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle. Hum. Molec. Genet. 10: 1761-1766, 2001.
[0028980]19568.McNally, E. M.: Personal Communication. Chicago, Ill. 6/8/1998.
[0028981]19569.McNally, E. M.; de Sa Moreira, E.; Duggan, D. J.; Bonnemann, C. G.; Lisanti, M. P.; Lidov, H. G. W.; Vainzof, M.; Passos-Bueno, M. R.; Hoffman, E. P.; Zatz, M.; Kunkel, L. M.: Caveolin-3 in muscular dystrophy. Hum. Molec. Genet. 7: 871-877, 1998.
[0028982]19570.Minetti, C.; Sotgia, F.; Bruno, C.; Scartezzini, P.; Broda, P.; Bado, M.; Masetti, E.; Mazzocco, M.; Egeo, A.; Donati, M. A.; Volonte, D.; Galbiati, F.; Cordone, G.; Bricarelli, F. D.; Lisanti, M. P.; Zara, F.: Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nature Genet. 18: 365-368, 1998.
[0028983]19571.Sotgia, F.; Minetti, C.; Lisanti, M. P.: Localization of the human caveolin-3 gene to the D3S18/D3S4163/D3S4539 locus (3p25), in close proximity to the human oxytocin receptor gene: identification of the caveolin-3 gene as a candidate for deletion in 3p-syndrome. FEBS Lett. 452: 177-180, 1999.
[0028984]19572.Sunada, Y.; Ohi, H.; Hase, A.; Ohi, H.; Hosono, T.; Arata, S.; Higuchi, S.; Matsumura, K.; Shimizu, T.: Transgenic mice expressing mutant caveolin-3 show severe myopathy associated with increased nNOS activity. Hum. Molec. Genet. 10: 173-178, 2001.
[0028985]19573.Tang, Z.; Scherer, P. E.; Okamoto, T.; Song, K.; Chu, C.; Kohtz, D. S.; Nishimoto, I.; Lodish, H. F.; Lisanti, M. P.: Molecular cloning of caveolin-3, a novel member of the caveolin gene family expressed predominantly in muscle. J. Biol. Chem. 271: 2255-2261, 1996.
[0028986]19574.Vorgerd, M.; Bolz, H.; Patzold, T.; Kubisch, C.; Malin, J.-P.; Mortier, W.: Phenotypic variability in rippling muscle disease. Neurology 52: 1453-1459, 1999.
[0028987]19575.Furlong, R. A.; Zhou, C. Y.; Ferguson-Smith, M. A.; Affara, N. A.: Characterization of a kinesin-related gene ATSV, within the tuberous sclerosis locus (TSC1) candidate region on chromosome 9q34. Genomics 33: 421-429, 1996.
[0028988]19576.Keller, M. P.; Seifried, B. A.; Rabin, B. A.; Chance, P. F.: Mapping of the kinesinrelated gene ATSV to chromosome 2q37. Hum. Genet. 104: 254-256, 1999.
[0028989]19577.Kikkawa, M.; Okada, Y.; Hirokawa, N.: 15-angstrom resolution model of the monomeric kinesin motor, KIF1A. Cell 100: 241-252, 2000.
[0028990]19578.Kikkawa, M.; Sablin, E. P.; Okada, Y.; Yajima, H.; Fletterick, R. J.; Hirokawa, N.: Switch-based mechanism of kinesin motors. Nature 411: 439-445, 2001.
[0028991]19579.Klopfenstein, D. R.; Tomishige, M.; Stuurman, N.; Vale, R. D.: Role of phosphatidylinositol(4,5)bisphosphate organization in membrane transport by the Unc104 kinesin motor. Cell 109: 347-358, 2002.
[0028992]19580.Okada, Y.; Yamazaki, H.; Sekine-Aizawa, Y.; Hirokawa, N.: The neuron-specific kinesin superfamily protein KIF1A is a unique monomeric motor for anterograde axonal transport of synaptic vesicle precursors. Cell 81: 769-780, 1995.
[0028993]19581.Yonekawa, Y.; Harada, A.; Okada, Y.; Funakoshi, T.; Kanai, Y.; Takei, Y.; Terada, S.; Noda, T.; Hirokawa, N.: Defect in synaptic vesicle precursor transport and neuronal cell death in KIF1A motor protein-deficient mice. J. Cell Biol. 141: 431-441, 1998.
[0028994]19582.Godbout, R.; Squire, J.: Amplification of a DEAD box protein gene in retinoblastoma cell lines. Proc. Nat. Acad. Sci. 90: 7578-7582, 1993.
[0028995]19583.Jones, J. M.; Meisler, M. H.; Isom, L. L.: Scn2b, a voltage-gated sodium channel beta-2 gene on mouse chromosome 9. Genomics 34: 258-259, 1996.
[0028996]19584.Bernard, O.; Burkitt, V.; Webb, G. C.; Bottema, C. D. K.; Nicholl, J.; Sutherland, G. R.; Matthew, P.: Structure and chromosomal localization of the genomic locus encoding the Kiz1 LIMkinase gene. Genomics 35: 593-596, 1996.
[0028997]19585.Mao, X.; Jones, T. A.; Williamson, J.; Gutowski, N. J.; Proschel, C.; Noble, M.; Sheer, D.: Assignment of the human and mouse LIM-kinase genes (LIMK1; Limk1) to chromosome bands 7q11.23 and 5G1, respectively, by in situ hybridization. Cytogenet. Cell Genet. 74: 190-191, 1996.
[0028998]19586.Mizuno, K.; Okano, I.; Ohashi, K.; Nunoue, K.; Kuma, K.; Miyata, T.; Nakamura, T.: Identification of a human cDNA encoding a novel protein kinase with two repeats of the LIM/double zinc finger motif. Oncogene 9: 1605-1612, 1994.
[0028999]19587.Okano, I.; Hiraoka, J.; Otera, H.; Nunoue, K.; Ohashi, K.; Iwashita, S.; Hirai, M.; Mizuno, K.: Identification and characterization of a novel family of serine/threonine kinases containing two N-terminal LIM motifs. J. Biol. Chem. 270: 31321-31330, 1995.
[0029000]19588.Proschel, C.; Blouin, M. J.; Gutowski, N. J.; Ludwig, R.; Noble, M.: Limk1 is predominantly expressed in neural tissues and phosphorylates serine, threonine and tyrosine residues in vitro. Oncogene 11: 1271-1281, 1995.
[0029001]19589.Sotiropoulos, A.; Gineitis, D.; Copeland, J.; Treisman, R.: Signal-regulated activation of serum response factor is mediated by changes in actin dynamics. Cell 98: 159-169, 1999.
[0029002]19590.Tassabehji, M.; Metcalfe, K.; Fergusson, W. D.; Carette, M. J. A.; Dore, J. K.; Donnai, D.; Read, A. P.; Proschel, C.; Gutowski, N. J.; Mao, X.; Sheer, D.: LIM-kinase deleted in Williams syndrome. (Letter) Nature Genet. 13: 272-273, 1996.
[0029003]19591.de Sauvage, F. J.; Camerato, T. R.; Goeddel, D. V.: Primary structure and functional expression of the human receptor for Escherichia coli heat-stable enterotoxin. J. Biol. Chem. 266: 17912-17918, 1991.
[0029004]19592.Mann, E. A.; Swenson, E. S.; Copeland, N. G.; Gilbert, D. J.; Jenkins, N. A.; Taguchi, T.; Testa, J. R.; Giannella, R. A.: Localization of the guanylyl cyclase C gene to mouse chromosome 6 and human chromosome 12p12. Genomics 34: 265-267, 1996.
[0029005]19593.Singh, S.; Singh, G.; Heim, J. M.; Gerzer, R.: Isolation and expression if a guanylate cyclase-coupled heat stable enterotoxin receptor cDNA from a human colonic cell line. Biochem. Biophys. Res. Commun. 179: 1455-1463, 1991.
[0029006]19594.Yamamoto, Y.; Huibregtse, J. M.; Howley, P. M.: The human E6-AP gene (UBE3A) encodes three potential protein isoforms generated by differential splicing. Genomics 41: 263-266, 1997.
[0029007]19595.Han, J.; Knops, J. F.; Longshore, J. W.; King, P. H.: Localization of human elav-like neuronal protein 1 (Hel-N1) on chromosome 9p21 by chromosome microdissection polymerase chain reaction and fluorescence in situ hybridization. Genomics 36: 189-191, 1996.
[0029008]19596.King, P. H.: Hel-N2: a novel isoform of Hel-N1 which is conserved in rat neural tissue and produced in early embryogenesis. Gene 151: 261-265, 1994.
[0029009]19597.King, P. H.; Levine, T. D.; Fremeau, R. T., Jr.; Keene, J. D.: Mammalian homologs of Drosophila ELAV localized to a neuronal subset can bind in vitro to the 3' UTR of mRNA encoding the Id transcriptional repressor. J. Neurosci. 14: 1943-52, 1994.
[0029010]19598.Abel, K. J.; Brody, L. C.; Valdes, J. M.; Erdos, M. R.; McKinley, D. R.; Castilla, L. H.; Merajver, S. D.; Couch, F. J.; Friedman, L. S.; Ostermeyer, E. A.; Lynch, E. D.; King, M.-C.; Welcsh, P. L.; Osborne-Lawrence, S.; Spillman, M.; Bowcock, A. M.; Collins, F. S.; Weber, B. L.: Characterization of EZH1, a human homolog of Drosophila enhancer of zeste near BRCA1. Genomics 37: 161-171, 1996.
[0029011]19599.Quirk, J.; van den Heuvel, M.; Henrique, D.; Marigo, V.; Jones, T. A.; Tabin, C.; Ingham, P. W.: The Smoothened gene and Hedgehog signal transduction in Drosophila and vertebrate development. Cold Spring Harbor Symp. Quant. Biol. 62: 217-226, 1997.
[0029012]19600.Sublett, J. E.; Entrekin, R. E.; Look, A. T.; Reardon, D. A.: Chromosomal localization of the human Smoothened gene (SMOH) to 7q32.3 by fluorescence in situ hybridization and radiation hybrid mapping. Genomics 50: 112-114, 1998.
[0029013]19601.Xie, J.; Murone, M.; Luoh, S.-M.; Ryan, A.; Gu, Q.; Zhang, C.; Bonifas, J. M.; Lam, C.-W.; Hynes, M.; Goddard, A.; Rosenthal, A.; Epstein, E. H., Jr.; de Sauvage, F. J.: Activating Smoothened mutations in sporadic basal-cell carcinoma. Nature 391: 90-92, 1998.
[0029014]19602.Ferbus, D.; Le Chalony, C.; Prosperi, M.-T.; Muleris, M.; Vincent-Salomon, A.; Goubin, G.: Identification, nuclear localization, and binding activities of OZF, a human protein solely composed of zinc finger motifs. Europ. J. Biochem. 236: 991-995, 1996.
[0029015]19603.Le Chalony, C.; Apiou, F.; Pibouin, L.; Dutrillaux, B.; Goubin, G.: Constitutive amplification of a zinc finger protein gene in cattle. DNA Cell Biol. 15: 83-88, 1996.
[0029016]19604.Le Chalony, C.; Prosperi, M.-T.; Haluza, R.; Apiou, F.; Dutrillaux, B.; Goubin, G.: The OZF gene encodes a protein consisting essentially of zinc-finger motifs. J. Molec. Biol. 236: 399-404, 1994.
[0029017]19605.Sereda, M.; Griffiths, I. Puhlhofer, A.; Stewart, H.; Rossner, M. J.; Zimmermann, F.; Magyar, J. P.; Schneider, A.; Hund, E.; Meinck, H.-M.; Suter, U.; Nave, K.-A.: A transgenic rat model of Charcot-Marie-Tooth disease. Neuron 16: 1049-1060, 1996.
[0029018]19606.Silander, K.; Meretoja, P.; Nelis, E.; Timmerman, V.; Van Broeckhoven, C.; Aula, P.; Savontaus, M.-L.: A de novo duplication in 17p11.2 and a novel mutation in the P(0) gene in two Dejerine-Sottas syndrome patients. Hum. Mutat. 8: 304-310, 1996.
[0029019]19607.Stogbauer, F.; Young, P.; Kerschensteiner, M.; Ringelstein, E. B.; Assmann, G.; Funke, H.: Recurrent brachial plexus palsies as the only clinical expression of hereditary neuropathy with liability to pressure palsies associated with a de novo deletion of the peripheral myelin protein-22 gene. Muscle Nerve 21: 1199-1201, 1998.
[0029020]19608.Suter, U.; Moskow, J. J.; Welcher, A. A.; Snipes, G. J.; Kosaras, B.; Sidman, R. L.; Buchberg, A. M.; Shooter, E. M.: A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse. Proc. Nat. Acad. Sci. 89: 4382-4386, 1992.
[0029021]19609.Suter, U.; Welcher, A. A.; Ozcelik, T.; Snipes, G. J.; Kosaras, B.; Francke, U.; Billings-Gagliardi, S.; Sidman, R. L.; Shooter, E. M.: Trembler mouse carries a point mutation in a myelin gene. Nature 356: 241-244, 1992.
[0029022]19610.Takahashi, E.; Takeda, O.; Himoro, M.; Nanao, K.; Takada, G.; Hayasaka, K.: Localization of PMP-22 gene (candidate gene for the Charcot-Marie-Tooth disease 1A) to band 17p11.2 by direct R-banding fluorescence in situ hybridization. Jpn. J. Hum. Genet. 37: 303-306, 1992.
[0029023]19611.Timmerman, V.; Nelis, E.; Van Hul, W.; Nieuwenhuijsen, B. W.; Chen, K. L.; Wang, S.; Othman, K. B.; Cullen, B.; Leach, R. J.; Hanemann, C. O.; De Jonghe, P.; Raeymaekers, P.; van Ommen, G.-J. B.; Martin, J.-J.; Muller, H. W.; Vance, J. M.; Fischbeck, K. H.; Van Broeckhoven, C.: The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication. Nature Genet. 1: 171-175, 1992.
[0029024]19612.Tobler, A. R.; Liu, N.; Mueller, L.; Shooter, E. M.: Differential aggregation of the Trembler and Trembler J mutants of peripheral myelin protein 22. Proc. Nat. Acad. Sci. 99: 483-488, 2002.
[0029025]19613.Upadhyaya, M.; Roberts, S. H.; Farnham, J.; MacMillan, J. C.; Clarke, A.; Heath, J. P.; Hodges, I. C. G.; Harper, P. S.: Charcot-Marie-Tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2-12. Hum. Genet. 91: 392-394, 1993.
[0029026]19614.Valentijn, L. J.; Baas, F.; Wolterman, R. A.; Hoogendijk, J. E.; van den Bosch, N. H. A.; Zorn, I.; Gabreels-Festen, A. A. W. M.; de Visser, M.; Bolhuis, P. A.: Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A. Nature Genet. 2: 288-291, 1992.
[0029027]19615.Valentijn, L. J.; Bolhuis, P. A.; Zorn, I.; Hoogendijk, J. E.; van den Bosch, N.; Hensels, G. W.; Stanton, V. P., Jr.; Housman, D. E.; Fischbeck, K. H.; Ross, D. A.; Nicholson, G. A.; Meershoek, E. J.; Dauwerse, H. G.; van Ommen, G.-J. B.; Baas, F.: The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A. Nature Genet. 1: 166-170, 1992.
[0029028]19616.Valentijn, L. J.; Ouvrier, R. A.; van den Bosch, N. H. A.; Bolhuis, P. A.; Baas, F.; Nicholson, G. A.: Dejerine-Sottas neuropathy is associated with a de novo PMP22 mutation. Hum. Mutat. 5: 76-80, 1995.
[0029029]19617.Vance, J. M.: Hereditary motor and sensory neuropathies. J. Med. Genet. 28: 1-5, 1991.
[0029030]19618.Wise, C. A.; Garcia, C. A.; Davis, S. N.; Heju, Z.; Pentao, L.; Patel, P. I.; Lupski, J. R.: Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMT1A duplication. Am. J. Hum. Genet. 53: 853-863, 1993.
[0029031]19619.Wulfsberg, E. A.; Weaver, R. P.; Cunniff, C. M.; Jones, M. C.; Jones, K. L.: Chromosome 10qter deletion syndrome: a review and report of three new cases. Am. J. Med. Genet. 32: 364-367, 1989.
[0029032]19620.Young, P.; Wiebusch, H.; Stogbauer, F.; Ringelstein, B.; Assmann, G.; Funke, H.: A novel frameshift mutation in PMP22 accounts for hereditary neuropathy with liability to pressure palsies. Neurology 48: 450-452, 1997.
[0029033]19621.Angrist, M.; Wells, D. E.; Chakravarti, A.; Pandey, A.: Chromosomal localization of the mouse Src-like adapter protein (Slap) gene and its putative human homolog SLA. Genomics 30: 623-625, 1995.
[0029034]19622.Holland, S. J.; Liao, X. C.; Mendenhall, M. K.; Zhou, X.; Pardo, J.; Chu, P.; Spencer, C.; Fu, A.; Sheng, N.; Yu, P.; Pali, E.; Nagin, A.; and 14 others: Functional cloning of Src-like adapter protein-2 (SLAP-2), a novel inhibitor of antigen receptor signaling. J. Exp. Med. 194: 1263-1276, 2001.
[0029035]19623.Kratchmarova, I.; Sosinowski, T.; Weiss, A.; Witter, K.; Vincenz, C.; Pandey, A.: Characterization of promoter region and genomic structure of the murine and human genes encoding Src like adapter protein. Gene 262: 267-273, 2001.
[0029036]19624.Meijerink, P. H. S.; Yanakiev, P.; Zorn, I.; Grierson, A. J.; Bikker, H.; Dye, D.; Kalaydjieva, L.; Baas, F.: The gene for the human Src-like adaptor protein (hSLAP) is located within the 64-kb intron of the thyroglobulin gene. Europ. J. Biochem. 254: 297-303, 1998.
[0029037]19625.Sosinowski, T.; Pandey, A.; Dixit, V. M.; Weiss, A.: Src-like adaptor protein (SLAP) is a negative regulator of T cell receptor signaling. J. Exp. Med. 191: 463-474, 2000.
[0029038]19626.Bailey, S. M.; Cornforth, M. N.; Kurimasa, A.; Chen, D. J.; Goodwin, E. H.: Strandspecific postreplicative processing of mammalian telomeres. Science 293: 2462-2465, 2001.
[0029039]19627.Junghans, R. P.; Anderson, C. L.: The protection receptor for IgG catabolism is the beta-2-microglobulin-containing neonatal intestinal transport receptor. Proc. Nat. Acad. Sci. 93: 5512-5516, 1996.
[0029040]19628.Junghans, R. P.; Ebralidze, A.; Tiwari, B.: Does (CUG)n repeat in DMPK mRNA 'paint' chromosome 19 to suppress distant genes to create the diverse phenotype of myotonic dystrophy? A new hypothesis of long-range cis autosomal inactivation. Neurogenetics 3: 59-67, 2001.
[0029041]19629.Waldmann, T. A.; Strober, W.: Metabolism of immunoglobulins. Prog. Allergy 13: 1-110, 1969.
[0029042]19630.Beddow, A. L.; Richards, S. A.; Orem, N. R.; Macara, I. G.: The Ran/TC4 GTPasebinding domain: identification by expression cloning and characterization of a conserved sequence motif. Proc. Nat. Acad. Sci. 92: 3328-3332, 1995.
[0029043]19631.Fauser, S.; Aslanukov, A.; Roepman, R.; Ferreira, P. A.: Genomic organization, expression, and localization of murine Ran-binding protein 2 (RanBP2) gene. Mammalian Genome 12: 406-415, 2001.
[0029044]19632.Krebber, H.; Bastians, H.; Hoheisel, J.; Lichter, P.; Ponstingl, H.; Joos, S.: Localization of the gene encoding the Ran-binding protein RanBP2 to human chromosome 2q11-q13 by fluorescence in situ hybridization. Genomics 43: 247-248, 1997.
[0029045]19633.Pichler, A.; Gast, A.; Seeler, J. S.; Dejean, A.; Melchior, F. : The nucleoporin RanBP2 has SUMO1 E3 ligase activity. Cell 108: 109-120, 2002.
[0029046]19634.Wu, J.; Matunis, M. J.; Kraemer, D.; Blobel, G.; Coutavas, E.: Nup358, a cytoplasmically exposed nucleoporin with peptide repeats, Ran-GTP binding sites, zinc fingers, a cyclophilin A homologous domain, and a leucine-rich region. J. Biol. Chem. 270: 14209-14213, 1995.
[0029047]19635.Yokoyama, N.; Hayashi, N.; Seki, T.; Pante, N.; Ohba, T.; Nishii, K.; Kuma, K.; Hayashida, T.; Miyata, T.; Abei, U.; Fukui, M.; Nishimoto, T.: A giant nucleopore protein that binds Ran/TC4. Nature 376: 184-188, 1995.
[0029048]19636.Chang, A. C.-M.; Janosi, J.; Hulsbeek, M.; de Jong, D.; Jeffrey, K. J.; Noble, J. R.; Reddel, R. R.: A novel human cDNA highly homologous to the fish hormone stanniocalcin. Molec. Cell. Endocr. 112: 241-247, 1995.
[0029049]19637.Chang, A. C.-M.; Jeffrey, K. J.; Tokutake, Y.; Shimamoto, A.; Neumann, A. A.; Dunham, M. A.; Cha, J.; Sugawara, M.; Furuichi, Y.; Reddel, R. R.: Human stanniocalcin (STC): genomic structure, chromosomal localization, and the presence of CAG trinucleotide repeats. Genomics 47: 393-398, 1998.
[0029050]19638.Jellinek, D. A.; Chang, A. C.; Larsen, M. R.; Wang, X.; Robinson, P. J.; Reddel, R. R.: Stanniocalcin 1 and 2 are secreted as phosphoproteins from human fibrosarcoma cells. Biochem. J. 350: 453-461, 2000.
[0029051]19639.Olsen, H. S.; Cepeda, M. A.; Zhang, Q.-Q.; Rosen, C. A.; Vozzolo, B. L.; Wagner, G. F.: Human stanniocalcin: a possible hormonal regulator of mineral metabolism. Proc. Nat. Acad. Sci. 93: 1792-1796, 1996.
[0029052]19640.Varghese, R.; Wong, C. K. C.; Deol, H.; Wagner, G. F.; DiMattia, G. E.: Comparative analysis of mammalian stanniocalcin genes. Endocrinology 139: 4714-4725, 1998.
[0029053]19641.Wagner, G. F.; Guiraudon, C. C.; Milliken, C.; Copp, D. H.: Immunological and biological evidence for a stanniocalcin-like hormone in human kidney. Proc. Nat. Acad. Sci. 92: 1871-1875, 1995.
[0029054]19642.Bartsch, O.; Wagner, A.; Hinkel, G. K.; Lichtner, P.; Murken, J.; Schuffenhauer, S.: No evidence for chromosomal microdeletions at the second DiGeorge syndrome locus on 10p near D10S585. (Letter) Am. J. Med. Genet. 83: 425-426, 1999.
[0029055]19643.Daw, S. C. M.; Taylor, C.; Kraman, M.; Call, K.; Mao, J.; Schuffenhauer, S.; Meitinger, T.; Lipson, T.; Goodship, J.; Scambler, P.: A common region of 10p deleted in DiGeorge and velocardiofacial syndromes. Nature Genet. 13: 458-461, 1996.
[0029056]19644.Lichtner, P.; Konig, R.; Hasegawa, T.; Van Esch, H.; Meitinger, T.; Schuffenhauer, S.: An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14. J. Med. Genet. 37: 33-37, 2000.
[0029057]19645.Artzt, K.; Shin, H. S.; Bennett, D.: Gene mapping within the T/t-complex of the mouse: II: anomalous position of the H-2 complex in t-haplotypes. Cell 28: 471-476, 1982.
[0029058]19646.Watanabe, T. K.; Fujiwara, T.; Shimizu, F.; Okuno, S.; Suzuki, M.; Takahashi, E.; Nakamura, Y.; Hirai, Y.: Cloning, expression, and mapping of TCTEL1, a putative human homologue of murine Tcte1, to 6q. Cytogenet. Cell Genet. 73: 153-156, 1996.
[0029059]19647.Davidson, J. D.; Riley, B.; Burright, E.N.; Duvick, L.A.; Zoghbi, H.Y.; Orr, H. T.: Identification and characterization of an ataxin-1-interactin g protein: A1Up, a ubiquitin-like nuclear protein. Hum. Molec. Genet. 9: 2305-2312, 2000.
[0029060]19648.Genis, D.; Matilla, T.; Volpini, V.; Rosell, J.; Davalos, A.; Ferrer, I.; Molins, A.; Estivill, X.: Clinical, neuropathologic, and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindred: (CAG)n expansion and early premonitory signs and symptoms. Neurology 45: 24-30, 1995.
[0029061]19649.Klanke, C. A.; Su, Y. R.; Callen, D. F.; Wang, Z.; Meneton, P.; Baird, N.; Kandasamy, R. A.; Orlowski, J.; Otterud, B. E.; Leppert, M.; Shull, G. E.; Menton, A. G.: Molecular cloning and physical and genetic mapping of a novel human Na+/H+ exchanger (NHE5/SLC9A5) to chromosome 16q22.1. Genomics 25: 615-622, 1995.
[0029062]19650.Chen, C.-Y.; Gherzi, R.; Ong, S.-E.; Chan, E. L.; Raijmakers, R.; Pruijn, G. J. M.; Stoecklin, G.; Moroni, C.; Mann, M.; Karin, M.: AU binding proteins recruit the exosome to degrade ARE-containing mRNAs. Cell 107: 451-464, 2001.
[0029063]19651.Doyle, K.; Zhang, Y.; Baer, R.; Bina, M.: Distinguishable patterns of protein-DNA interactions involving complexes of basic helix-loop-helix proteins. J. Biol. Chem. 269: 12099-12105, 1994.
[0029064]19652.Hu, J.-S.; Olson, E. N.; Kingston, R. E.: HEB, a helix-loop-helix protein related to E2A and ITF2 that can modulate the DNA-binding ability of myogenic regulatory factors. Molec. Cell. Biol. 12: 1031-1042, 1992.
[0029065]19653.Sawada, S.; Littman, D. R.: A heterodimer of HEB and an E12-related protein interacts with the CD4 enhancer and regulates its activity in T-cell lines. Molec. Cell. Biol. 13: 5620-5628, 1993.
[0029066]19654.Zhang, Y.; Babin, J.; Feldhaus, A. L.; Singh, H.; Sharp, P. A.; Bina, M.: HTF4: a new human helix-loop-helix protein. Nucleic Acids Res. 19: 4555 only, 1991.
[0029067]19655.Zhang, Y.; Bina, M.: The nucleotide sequence of the human transcription factor HTF4a cDNA. DNA Sequence 2: 397-403, 1992.
[0029068]19656.Zhang, Y.; Flejter, W. L.; Barcroft, C. L.; Riviere, M.; Szpirer, J.; Szpirer, C.; Bina, M.: Localization of the human HTF4 transcription factors 4 gene (TCF12) to chromosome 15q21. Cytogenet. Cell Genet. 68: 235-238, 1995.
[0029069]19657.Hua, X.; Yokoyama, C.; Wu, J.; Briggs, M. R.; Brown, M. S.; Goldstein, J. L.; Wang, X.: SREBP-2, a second basic-helix-loop-helix-leucine zipper protein that stimulates transcription by binding to a sterol regulatory element. Proc. Nat. Acad. Sci. 90: 11603-11607, 1993.
[0029070]19658.Miserez, A. R.; Cao, G.; Probst, L. C.; Hobbs, H. H.: Structure of the human gene encoding sterol regulatory element binding protein 2 (SREBF2). Genomics 40: 31-40, 1997.
[0029071]19659.Yang, J.; Sato, R.; Goldstein, J. L.; Brown, M. S.: Sterol-resistant transcription in CHO cells caused by gene rearrangement that truncates SREBP-2. Genes Dev. 8: 1910-1919, 1994.
[0029072]19660.Rowen, L.; Young, J.; Birditt, B.; Kaur, A.; Madan, A.; Philipps, D. L.; Qin, S.; Minx, P.; Wilson, R. K.; Hood, L.; Graveley, B. R. : Analysis of the human neurexin genes: alternative splicing and the generation of protein diversity. Genomics 79: 587-597, 2002.
[0029073]19661.Tabuchi, K.; Sudhof, T. C.: Structure and evolution of neurexin genes: insight into the mechanism of alternative splicing. Genomics 79: 849-859, 2002.
[0029074]19662.Ullrich, B.; Ushkaryov, Y. A.; Sudhof, T. C.: Cartography of neurexins: more than 1000 isoforms generated by alternative splicing and expressed in distinct subsets of neurons. Neuron 14: 497-507, 1995.
[0029075]19663.Ushkaryov, Y. A.; Petrenko, A. G.; Geppert, M.; Sudhof, T. C. : Neurexins: synaptic cell surface proteins related to the alpha-latrotoxin receptor and laminin. Science 257: 50-56, 1992.
[0029076]19664.Bergman, L.; Silins, G.; Grimmond, S.; Hummerich, H.; Stewart, C.; Little, P.; Hayward, N.: A 500-kb sequence-ready cosmid contig and transcript map of the MEN1 region on 11q13. Genomics 55: 49-56, 1999.
[0029077]19665.Ushkaryov, Y. A.; Petrenko, A. G.; Geppert, M.; Sudhof, T. C.: Neurexins: synaptic cell surface proteins related to the alpha-latrotoxin receptor and laminin. Science 257: 50-56, 1992.
[0029078]19666.Scheiffele, P.; Fan, J.; Choih, J.; Fetter, R.; Serafini, T.: Neuroligin expressed in nonneuronal cells triggers presynaptic development in contacting axons. Cell 101: 657-669, 2000.
[0029079]19667.Abderrahmani, A.; Steinmann, M.; Plaisance, V.; Niederhauser, G.; Haefliger, J.-A.; Mooser, V.; Bonny, C.; Nicod, P.; Waeber, G.: The transcriptional repressor REST determines the cellspecific expression of the human MAPK8IP1 gene encoding IB1 (JIP-1). Molec. Cell. Biol. 21: 7256-7627, 2001.
[0029080]19668.Cavaloc, Y.; Popielarz, M.; Fuchs, J.-P.; Gattoni, R.; Stevenin, J.: Characterization and cloning of the human splicing factor 9G8: a novel 35 kDa factor of the serine/arginine protein family. EMBO J. 13: 2639-2649, 1994.
[0029081]19669.Popielarz, M.; Cavaloc, Y.; Mattei, M.-G.; Gattoni, R.; Stevenin, J.: The gene encoding human splicing factor 9G8: structure, chromosomal localization, and expression of alternatively processed transcripts. J. Biol. Chem. 270: 17830-17835, 1995.
[0029082]19670.Chiang, C.-M.; Roeder, R. G.: Cloning of an intrinsic human TFIID subunit that interacts with multiple transcriptional activators. Science 267: 531-536, 1995.
[0029083]19671.Wu, Q.; Zhang, T.; Cheng, J.-F.; Kim, Y.; Grimwood, J.; Schmutz, J.; Dickson, M.; Noonan, J. P.; Zhang, M. Q.; Myers, R. M.; Maniatis, T.: Comparative DNA sequence analysis of mouse and human protocadherin gene clusters. Genome Res. 11: 389-404, 2001.
[0029084]19672.Kurahashi, H.; Akagi, K.; Inazawa, J.; Ohta, T.; Niikawa, N.; Kayatani, F.; Sano, T.; Okada, S.; Nishisho, I.: Isolation and characterization of a novel gene deleted in DiGeorge syndrome. Hum. Molec. Genet. 4: 541-549, 1995.
[0029085]19673.Aoki, K.; Inazawa, J.; Takahashi, T.; Nakahara, K.; Kasai, M.: Genomic structure and chromosomal localization of the gene encoding translin, a recombination hotspot binding protein. Genomics 43: 237-241, 1997.
[0029086]19674.Aoki, K.; Nakahara, K.; Ikegawa, C.; Seto, M.; Takahashi, T.; Minowada, J.; Strominger, J. L.; Maziarz, R. T.; Kasai, M.: Nuclear proteins binding to a novel target sequence within the recombination hotspot regions of Bcl-2 and the immunoglobulin D(H) gene family. Oncogene 9: 1109-1115, 1994.
[0029087]19675.Sprecher, E.; Bergman, R.; Szargel, R.; Friedman-Birnbaum, R.; Cohen, N.: Identification of a genetic defect in the hairless gene in atrichia with papular lesions: evidence for phenotypic heterogeneity among inherited atrichias. Am. J. Hum. Genet. 64: 1323-1329, 1999.
[0029088]19676.Sprecher, E.; Bergman, R.; Szargel, R.; Raz, T.; Labay, V.; Ramon, M.; Baruch-Gershoni, R.; Friedman-Birnbaum, R.; Cohen, N.: Atrichia with papular lesions maps to 8p in the region containing the human hairless gene. Am. J. Med. Genet. 80: 546-550, 1998.
[0029089]19677.Shannon, R. S.; Mann, J. R.; Harper, E.; Harnden, D. G.; Morten, J. E. N.; Herbert, A.: Wilms's tumour and aniridia: clinical and cytogenetic features. Arch. Dis. Child. 57: 685-690, 1982.
[0029090]19678.Strom, T.: A Wilms' tumor family. Acta Paediat. 46: 601-604, 1957.
[0029091]19679.Blair, I. P.; Gibson, R. R.; Bennett, C. L.; Chance, P. F.: Search for genes involved in Joubert syndrome: evidence that one or more major loci are yet to be identified and exclusion of candidate genes EN1, EN2, FGF8, and BARHL1. Am. J. Med. Genet. 107: 190-196, 2002.
[0029092]19680.Sweetman, L.; Nyhan, W. L.: Inheritable biotin-treatable disorders and associated phenomena. Ann. Rev. Nutr. 6: 317-343, 1986.
[0029093]19681.D'Cruz, D.; Taylor, J.; Ahmed, T.; Asherson, R.; Khamashta, M.; Hughes, G. R. V.: Complement factor 2 deficiency: a clinical and serological family study. Ann. Rheum. Dis. 51: 1254-1256, 1992.
[0029094]19682.Day, N. K.; L'Esperance, R.; Good, R. A.; Michael, A. F.; Hansen, J. A.; Dupont, B.; Jersild, C.: Hereditary C2 deficiency: genetic studies and association with the HL-A system. J. Exp. Med. 141: 1464-1469, 1975.
[0029095]19683.Day, N. K.; Rubinstein, P.; Case, D. J. A.; Good, R. A.; Walker, M. E.; Tulchin, N.; Dupont, B.; Jersild, C.: Linkage of gene for C2 deficiency and the major histocompatibility complex MHC in man: family study of a further case. Vox Sang. 31: 96-102, 1976.
[0029096]19684.Dewald, G.; Rittner, C.: Polymorphism of the second component of human complement (C2): observation of the rare phenotype C2 (=C2 B) and data on the localization of the C2 locus in the HLA region. Vox Sang. 37: 47-54, 1979.
[0029097]19685.Efthimiou, J.; D'Cruz, D.; Kaplan, P.; Isenberg, D.: Heterozygous C2 deficiency associated with angioedema, myasthenia gravis, and systemic lupus erythematosus. Ann. Rheum. Dis. 45: 428-430, 1986.
[0029098]19686.Einstein, L. P.; Alper, C. A.; Bloch, K. J.; Herrin, J. T.; Rosen, F. S.; David, J. R.; Colten, H. R.: Biosynthetic defect in monocytes from human beings with genetic deficiency of the second component of complement. New Eng. J. Med. 292: 1169-1171, 1975.
[0029099]19687.Friend, P. S.; Handwerger, B. S.; Kim, Y.; Michael, A. F.; Yunis, E. J.: C2 deficiency in man. Genetic relationship to a mixed lymphocyte reaction determinant (7a*). Immunogenetics 2: 569-576, 1975.
[0029100]19688.Fu, S. M.; Kunkel, H. G.; Brusman, H. P.; Allen, F. H., Jr.; Fotino, M.: Evidence for linkage between HL-A histocompatibility genes and those involved in the synthesis of the second component of complement. J. Exp. Med. 140: 1108-1111, 1974.
[0029101]19689.Gewurz, A.; Lint, T. F.; Roberts, J. L.; Zeitz, H.; Gewurz, H. : Homozygous C2 deficiency with fulminant lupus erythematosus: severe nephritis via the alternative complement pathway. Arthritis Rheum. 21: 28-36, 1978.
[0029102]19690.Gibson, D. J.; Glass, D.; Carpenter, C. B.; Schur, P. H.: Hereditary C2 deficiency: diagnosis and HLA gene complex associations. J. Immunogenet. 116: 1065-1070, 1976.
[0029103]19691.Johnson, C. A.; Densen, P.; Hurford, R.; Colten, H. R.; Wetsel, R. A.: Deficiency of human complement C2, type I: a 28bp gene deletion leads to a splicing defect. (Abstract) Clin. Res. 39: 304A, 1991.
[0029104]19692.Johnson, C. A.; Densen, P.; Hurford, R. K., Jr.; Colten, H. R.; Wetsel, R. A.: Type I human complement C2 deficiency: a 28-base pair gene deletion causes skipping of exon 6 during RNA splicing. J. Biol. Chem. 267: 9347-9353, 1992.
[0029105]19693.Johnson, C. A.; Densen, P.; Wetsel, R. A.; Cole, F. S.; Goeken, N. E.; Colten, H. R.: Molecular heterogeneity of C2 deficiency. New Eng. J. Med. 326: 871-874, 1992.
[0029106]19694.Kim, Y.; Friend, P. S.; Dresner, I. G.; Yunis, E. J.; Michael, A. F.: Inherited deficiency of the second component of complement (C2) with membranoproliferative glomerulonephritis. Am. J. Med. 62: 765-771, 1977.
[0029107]19695.Klemperer, M. R.: Hereditary deficiency of the second component of complement in man: an immunochemical study. J. Immunogenet. 102: 168-171, 1969.
[0029108]19696.Klemperer, M. R.; Austen, K. F.; Rosen, F. S.: Hereditary deficiency of second component of complement (C-prime-2) in man: further observations on a second kindred. J. Immunogenet. 98: 72-78, 1967.
[0029109]19697.Klemperer, M. R.; Woodworth, H. C.; Rosen, F. S.; Austen, K. F. : Hereditary deficiency of second component of complement (C-prime-2) in man. J. Clin. Invest. 45: 880-890, 1966.
[0029110]19698.Leddy, J. P.; Griggs, R. C.; Klemperer, M. R.; Frank, M. M.: Hereditary complement (C2) deficiency with dermatomyositis. Am. J. Med. 58: 83-91, 1975.
[0029111]19699.Loirat, C.; Levy, M.; Peltier, A. P.; Broyer, M.; Checoury, A.; Mathieu, H.: Deficiency of the second component of complement: its occurrence with membranoproliferative glomerulonephritis. Arch. Path. Lab. Med. 100: 467-472, 1980.
[0029112]19700.Mahowald, M. L.; Dalmasso, A. P.; Petzel, R. A.; Yunis, E. J. : Linkage relationship of C2 deficiency, HLA and glyoxalase I loci. Vox Sang. 37: 321-328, 1979.
[0029113]19701.McCarty, D. J.; Tan, E. M.; Zvaifler, N. J.; Koethe, E.; Duquesnoy, R. J.: Serologic studies in a family with heterozygous C2 deficiency. Am. J. Med. 71: 945-948, 1981.
[0029114]19702.Meo, T.; Atkinson, J.; Bernoco, M.; Bernoco, D.; Ceppellini, R. : Mapping of the HLA locus controlling C2 structural variants and linkage disequilibrium between alleles C2-2 and Bw15. Europ. J. Immun. 6: 916-919, 1976.
[0029115]19703.Mortensen, J. P.; Buskjaer, L.; Lamm, L. U.: Studies on the C2-deficiency gene in man. Immunology 39: 541-549, 1980.
[0029116]19704.Polley, M. J.: Inherited C-prime-2 deficiency in man: lack of immunochemically detectable C-prime-2 protein in serums from deficient individuals. Science 161: 1149-1151, 1968.
[0029117]19705.Provost, T. T.; Arnett, F. C.; Reichlin, M.: Homozygous C2 deficiency, lupus erythematosus, and anti-Ro (SSA) antibodies. Arthritis Rheum. 26: 1279-1282, 1983.
[0029118]19706.Riggs, J. E.; Griggs, R. C.; Rosenfeld, S. I.; May, A. G.; Penn, A. S.: Heterozygous C2-deficiency and myasthenia gravis. Neurology 30: 871-873, 1980.
[0029119]19707.Ruddy, S.; Austen, K. F.: Inherited abnormalities of the complement system in man. Prog. Med. Genet. 7: 69-95, 1970.
[0029120]19708.Seligmann, M.; Brouet, J.-C.; Sasportes, M.: Hereditary C2 deficiency associated with common variable immunodeficiency. Ann. Intern. Med. 91: 216-217, 1979.
[0029121]19709.Curtis, A.; Nelson, R.; Porteous, M.; Burn, J.; Bhattacharya, S. S.: Association of less common cystic fibrosis mutations with a mild phenotype. J. Med. Genet. 28: 34-37, 1991.
[0029122]19710.Cutting, G. R.; Curristin, S. M.; Nash, E.; Rosenstein, B. J.; Lerer, I.; Abeliovich, D.; Hill, A.; Graham, C.: Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians. Am. J. Hum. Genet. 50: 1185-1194, 1992.
[0029123]19711.Devoto, M.; Ronchetto, P.; Fanen, P.; Orriols, J. J. T.; Romeo, G.; Goossens, M.; Ferrari, M.; Magnani, C.; Seia, M.; Cremonesi, L. : Screening for non-delta-F508 mutations in five exons of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in Italy. Am. J. Hum. Genet. 48: 1127-1132, 1991.
[0029124]19712.de Vries, H. G.; Collee, J. M.; de Walle, H. E. K.; van Veldhuizen, M. H. R.; Smit Sibinga, C. T.; Scheffer, H.; ten Kate, L. P.: Prevalence of delta-F508 cystic fibrosis carriers in The Netherlands: logistic regression on sex, age, region of residence and number of offspring. Hum. Genet. 99: 74-79, 1997.
[0029125]19713.Dorin, J. R.; Dickinson, P.; Alton, E. W. F. W.; Smith, S. N.; Geddes, D. M.; Stevenson, B. J.; Kimber, W. L.; Fleming, S.; Clarke, A. R.; Hooper, M. L.; Anderson, L.; Beddington, R. S. P.; Porteous, D. J.: Cystic fibrosis in the mouse by targeted insertional mutagenesis. Nature 359: 211-215, 1992.
[0029126]19714.Dork, T.; El-Harith, E.-H. A.; Stuhrmann, M.; Macek, M., Jr.; Egan, M.; Cutting, G. R.; Tzetis, M.; Kanavakis, E.; Carles, S.; Claustres, M.; Padoa, C.; Ramsay, M.; Schmidtke, J.: Evidence for a common ethnic origin of cystic fibrosis mutation 3120+1G-to-A in diverse populations. (Letter) Am. J. Hum. Genet. 63: 656-662, 1998.
[0029127]19715.Dork, T.; Wulbrand, U.; Richter, T.; Neumann, T.; Wolfes, H.; Wulf, B.; Maass, G.; Tummler, B.: Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene. Hum. Genet. 87: 441-446, 1991.
[0029128]19716.Dumur, V.; Lafitte, J. J.; Gervais, R.; Debaecker, D.; Kesteloot, M.; Lalau, G.; Roussel, P.: Abnormal distribution of cystic fibrosis delta-F508 allele in adults with chronic bronchial hypersecretion. Lancet 335: 1340, 1990.
[0029129]19717.Ferec, C.; Audrezet, M. P.; Mercier, B.; Guillermit, H.; Moullier, P.; Quere, I.; Verlingue, C.: Detection of over 98% cystic fibrosis mutations in a Celtic population. Nature Genet. 1: 188-191, 1992.
[0029130]19718.Kelly, T. E.: Personal Communication. Charlottesville, Va. 1977.
[0029131]19719.Lindor, N. M.; Furuichi, Y.; Kitao, S.; Shimamoto, A.; Arndt, C.; Jalal, S.: Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. Am. J. Med. Genet. 90: 223-228, 2000.
[0029132]19720.Bodzioch, M.; Orso, E.; Klucken, J.; Langmann, T.; Bottcher, A.; Diederich, W.; Drobnik, W.; Barlage, S.; Buchler, C.; Porsch-Ozcurumez, M.; Kaminski, W. E.; Hahmann, H. W.; Oette, K.; Rothe, G.; Aslanidis, C.; Lackner, K. J.; Schmitz, G.: The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease. Nature Genet. 22: 347-351, 1999.
[0029133]19721.Brooks-Wilson, A.; Marcil, M.; Clee, S. M.; Zhang, L.-H.; Roomp, K.; van Dam, M.; Yu, L.; Brewer, C.; Collins, J. A.; Molhuizen, H. O. F.; Loubser, O.; Ouelette, B. F. F.; and 14 others: Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Nature Genet. 22: 336-345, 1999.
[0029134]19722.Hoogendijk, J. E.; Hensels, G. W.; Gabreels-Festen, A. A. W. M.; Gabreels, F. J. M.; Janssen, E. A. M.; De Jonghe, P.; Martin, J.-J.; Van Broeckhoven, C.; Valentijn, L. J.; Baas, F.; de Visser, M.; Bolhuis, P. A.: De-novo mutation in hereditary motor and sensory neuropathy type I. Lancet 339: 1081-1082, 1992.
[0029135]19723.Menasche, G.; Pastural, E.; Feldmann, J.; Certain, S.; Ersoy, F.; Dupuis, S.; Wulffraat, N.; Bianchi, D.; Fischer, A.; Le Deist, F.; de Saint Basile, G.: Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. Nature Genet. 25: 173-176, 2000.
[0029136]19724.Pastural, E.; Barrat, F. J.; Dufourcq-Lagelouse, R.; Certain, S.; Sanal, O.; Jabado, N.; Seger, R.; Griscelli, C.; Fischer, A.; de Saint Basile, G.: Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene. Nature Genet. 16: 289-292, 1997.
[0029137]19725.Asamoah, A.; Wilson, A. F.; Elston, R. C.; Dalferes, E., Jr.; Berenson, G. S.: Segregation and linkage analyses of dopamine-beta-hydroxylase activity in a six-generation pedigree. Am. J. Med. Genet. 27: 613-621, 1987.
[0029138]19726.Biaggioni, I.; Goldstein, D. S.; Atkinson, T.; Robertson, D.: Dopamine-betahydroxylase deficiency in humans. Neurology 40: 370-373, 1990.
[0029139]19727.Biaggioni, I.; Robertson, D.: Endogenous restoration of noradrenaline by precursor therapy in dopamine-beta-hydroxylase deficiency. Lancet II: 1170-1172, 1987.
[0029140]19728.Craig, S. P.; Buckle, V. J.; Lamouroux, A.; Mallet, J.; Craig, I. W.: Localization of the human dopamine beta hydroxylase (DBH) gene to chromosome 9q34. Cytogenet. Cell Genet. 48: 48-50, 1988.
[0029141]19729.Dunnette, J.; Weinshilboum, R.: Human serum dopamine beta-hydroxylase: correlation of enzymatic activity with immunoreactive protein in genetically defined samples. Am. J. Hum. Genet. 28: 155-166, 1976.
[0029142]19730.Dunnette, J.; Weinshilboum, R.: Inheritance of low immunoreactive human plasma dopamine-beta-hydroxylase: radioimmunoassay studies. J. Clin. Invest. 60: 1080-1087, 1977.
[0029143]19731.Elston, R. C.; Namboodiri, K. K.; Hames, C. G.: Segregation and linkage analysis of dopamine-beta-hydroxylase activity. Hum. Hered. 29: 284-292, 1979.
[0029144]19732.Gershon, E. S.; Goldin, L. R.: Segregation and linkage studies of plasma dopaminebeta-hydroxylase (DBH), erythrocyte catechol-O-methyltransferase (COMT) and platelet monoamine oxidase (MAO): possible linkage between the ABO locus and a gene controlling DBH activity. (Abstract) Am. J. Hum. Genet. 33: 136A only, 1981.
[0029145]19733.Goldin, L. R.; Gershon, E. S.; Lake, C. R.; Murphy, D. L.; McGinniss, M.; Sparkes, R. S.: Segregation and linkage studies of plasma dopamine-beta-hydroxylase (DBH), erythrocyte catechol-O-methyltransferase (COMT), and platelet monoamine oxidase (MAO): possible linkage between the ABO locus and a gene controlling DBH activity. Am. J. Hum. Genet. 34: 250-262, 1982.
[0029146]19734.Joh, T. H.; Baetge, E. E.; Reis, D. J.: Evidence for the existence of a single gene or linked genes coding for catecholamine biosynthetic enzymes. Trans. Assoc. Am. Phys. 96: 38-43, 1983.
[0029147]19735.Joh, T. H.; Baetge, E. E.; Ross, M. E.; Albert, V. R.; Moon, H. M.; Reis, D. J.: Existence of catecholamine biosynthetic enzyme gene family. (Abstract) Clin. Res. 31: 528 only, 1983.
[0029148]19736.Joh, T. H.; Baetge, E. E.; Ross, M. E.; Reis, D. J.: Biochemistry and molecular biology of catecholamine neurons: a single gene or gene family hypothesis. Clin. Exp. Hypertension 6A: 11-21, 1984.
[0029149]19737.Kobayashi, K.; Kurosawa, Y.; Fujita, K.; Nagatsu, T.: Human dopamine betahydroxylase gene: two mRNA types having different 3-prime-terminal regions are produced through alternative polyadenylation. Nucleic Acids Res. 17: 1089-1102, 1989.
[0029150]19738.Lamouroux, A.; Vigny, A.; Faucon Biguet, N.; Darmon, M. C.; Franck, R.; Henry, J.-P.; Mallet, J.: The primary structure of human dopamine-beta-hydroxylase: insights into the relationship between the soluble and the membrane-bound forms of the enzyme. EMBO J. 6: 3931-3937, 1987.
[0029151]19739.Lea, R. A.; Dohy, A.; Jordan, K.; Quinlan, S.; Brimage, P. J.; Griffiths, L. R.: Evidence for allelic association of the dopamine beta-hydroxylase gene (DBH) with susceptibility to typical migraine. Neurogenetics 3: 35-40, 2000.
[0029152]19740.Mathias, C. J.; Bannister, R. B.; Cortelli, P.; Heslop, K.; Polak, J. M.; Raimbach, S.; Springall, D. R.; Watson, L.: Clinical, autonomic and therapeutic observations in two siblings with postural hypotension and sympathetic failure due to an inability to synthesize noradrenaline from dopamine because of a deficiency of dopamine beta hydroxylase. Quart. J. Med. 75: 617-633, 1990.
[0029153]19741.McKinney, E. F.; Walton, R. T.; Yudkin, P.; Fuller, A.; Haldar, N. A.; Mant, D.; Murphy, M.; Welsh, K. I.; Marshall, S. E.: Association between polymorphisms in dopamine metabolic enzymes and tobacco consumption in smokers. Pharmacogenetics 10: 483-491, 2000.
[0029154]19742.O'Malley, K. L.; Mauron, A.; Raese, J.; Barchas, J. D.; Kedes, L.: Genes for catecholamine biosynthesis: cloning by expression and identification of the cDNA for rat dopamine betahydroxylase. Proc. Nat. Acad. Sci. 80: 2161-2165, 1983.
[0029155]19743.Ogihara, T.; Nugent, C. A., Jr.; Shen, S.-W.; Goldfein, S.: Serum dopamine-betahydroxylase activity in parents and children. J. Lab. Clin. Med. 85: 566-573, 1975.
[0029156]19744.Perry, S. E.; Summar, M. L.; Phillips, J. A., III; Robertson, D.: Linkage analysis of the human dopamine beta-hydroxylase gene. Genomics 10: 493-495, 1991.
[0029157]19745.Robertson, D.; Haile, V.; Perry, S. E.; Robertson, R. M.; Phillips, J. A., III; Biaggioni, I.: Dopamine beta-hydroxylase deficiency: a genetic disorder of cardiovascular regulation. Hypertension 18: 1-8, 1991.
[0029158]19746.Ross, S. B.; Wetterberg, L.; Myrhed, M.: Genetic control of plasma dopamine-betahydroxylase. Life Sci. 12: 529-532, 1973.
[0029159]19747.Schanberg, S. M.; Stone, R. A.; Kirshner, N.; Gunnells, J. C.; Robinson, R. R.: Plasma dopamine beta-hydroxylase: a possible aid in the study and evaluation of hypertension. Science 183: 523-525, 1974.
[0029160]19748.Hoefsloot, L. H.; van der Ploeg, A. T.; Kroos, M. A.; Hoogeveen-Westerveld, M.; Oostra, B. A.; Reuser, A. J. J.: Adult and infantile glycogenosis type II in one family, explained by allelic diversity. Am. J. Hum. Genet. 46: 45-52, 1990.
[0029161]19749.de Villiers, J. N. P.; Hillermann, R.; Loubser, L.; Kotze, M. J.: Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria. Hum. Molec. Genet. 8: 1517-1522, 1999.
[0029162]19750.Marlar, R. A.; Griffin, J. H.: Deficiency of protein C inhibitor in combined factor V/VIII deficiency disease. J. Clin. Invest. 66: 1186-1189, 1980.
[0029163]19751.Meijers, J. C.; Chung, D. W.: Organization of the gene coding for human protein C inhibitor (plasminogen activator inhibitor-3): assignment of the gene to chromosome 14. J. Biol. Chem. 266: 15028-15034, 1991.
[0029164]19752.Nichols, W. C.; Seligsohn, U.; Zivelin, A.; Terry, V. H.; Arnold, N. D.; Siemieniak, D. R.; Kaufman, R. J.; Ginsburg, D.: Linkage of combined factors V and VIII deficiency to chromosome 18q by homozygosity mapping. J. Clin. Invest. 99: 596-601, 1997.
[0029165]19753.Suzuki, K.; Deyashiki, Y.; Nishioka, J.; Kurachi, K.; Akira, M.; Yamamoto, S.; Hashimoto, S.: Characterization of a cDNA for human protein C inhibitor: a new member of the plasma serine protease inhibitor superfamily. J. Biol. Chem. 262: 611-616, 1987.
[0029166]19754.Abramson, R. D.; Barbosa, P.; Kalumuck, K.; O'Brien, W. E.: Characterization of the human argininosuccinate lyase gene and analysis of exon skipping. Genomics 10: 126-132, 1991.
[0029167]19755.Allan, J. D.; Cusworth, D. C.; Dent, C. E.; Wilson, V. K.: A disease, probably hereditary, characterized by severe mental deficiency and a constant gross abnormality of amino acid metabolism. Lancet I: 182-187, 1958.
[0029168]19756.Asai, K.; Ishii, S.; Ohta, S.; Furusho, K.: Fatal hyperammonaemia in argininosuccinic aciduria following enflurane anaesthesia. (Letter) Europ. J. Paediat. 157: 169-170, 1997.
[0029169]19757.Bohles, H.; Heid, H.; Harms, D.; Schmid, D.; Fekl, W.: Argininosuccinic aciduria: metabolic studies and effects of treatment with keto-analogues of essential amino acids. Europ. J. Pediat. 128: 225-233, 1978.
[0029170]19758.Brusilow, S. W.; Batshaw, M. L.: Arginine therapy of argininosuccinase deficiency. Lancet I: 124-127, 1979.
[0029171]19759.Cathelineau, L.; Dinh, D. P.; Briand, P.; Kamoun, P.: Studies on complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts. Hum. Genet. 57: 282-284, 1981.
[0029172]19760.Collins, F. S.; Summer, G. K.; Schwartz, R. P.; Parke, J. C., Jr. : Neonatal argininosuccinic aciduria--survival after early diagnosis and dietary management. J. Pediat. 96: 429-431, 1980.
[0029173]19761.Coryell, M. E.; Hall, W. K.; Thevaos, T. G.; Welter, D. A.; Gatz, A. J.; Horton, B. F.; Sisson, B. D.; Looper, J. W., Jr.; Farrow, R. T.: Familial study of human enzyme defect, argininosuccinic aciduria. Biochem. Biophys. Res. Commun. 14: 307-312, 1964.
[0029174]19762.Fleisher, L. D.; Rassin, D. K.; Desnick, R. J.; Salwen, H. R.; Rogers, P.; Bean, M.; Gaull, G. E.: Argininosuccinic aciduria: prenatal studies in a family at risk. Am. J. Hum. Genet. 31: 439-445, 1979.
[0029175]19763.Glick, N. R.; Snodgrass, P. J.; Schafer, I. A.: Neonatal argininosuccinic aciduria with normal brain and kidney but absent liver argininosuccinate lyase activity. Am. J. Hum. Genet. 28: 22-30, 1976.
[0029176]19764.Goodman, S. I.; Mace, J. W.; Turner, B.; Garrett, W. J.: Antenatal diagnosis of argininosuccinic aciduria. Clin. Genet. 4: 236-240, 1973.
[0029177]19765.Kint, J. A.; Carton, D.: Deficient argininosuccinase activity in brain in argininosuccinicaciduria. (Letter) Lancet II: 635 only, 1968.
[0029178]19766.Kvedar, J. C.; Baden, H. P.; Baden, L. A.; Shih, V. E.; Kolodny, E. H.: Dietary management reverses grooving and abnormal polarization of hair shafts in argininosuccinase deficiency. Am. J. Med. Genet. 40: 211-213, 1991.
[0029179]19767.Levin, B.: Argininosuccinic aciduria. Am. J. Dis. Child. 113: 162-165, 1967.
[0029180]19768.Levin, B.; MacKay, H. M.; Oberholzer, V. G.: Argininosuccinic aciduria: an inborn error of amino acid metabolism. Arch. Dis. Child. 36: 622-632, 1961.
[0029181]19769.Lewis, P. D.; Miller, A. L.: Argininosuccinic aciduria: case report with neuropathological findings. Brain 93: 413-422, 1970.
[0029182]19770.Matuo, S.; Tatsuno, M.; Kobayashi, K.; Saheki, T.; Miyata, T.; Iwanaga, S.; Amaya, Y.; Mori, M.: Isolation of cDNA clones of human argininosuccinate lyase and corrected amino acid sequence. FEBS Lett. 234: 395-399, 1988.
[0029183]19771.McInnes, R. R.; Shih, V.; Chilton, S.: Interallelic complementation in an inborn error of metabolism: genetic heterogeneity in argininosuccinate lyase deficiency. Proc. Nat. Acad. Sci. 81: 4480-4484, 1984.
[0029184]19772.Moser, H. W.; Efron, M. L.; Brown, H.; Diamond, R.; Neumann, C. G.: Argininosuccinic aciduria: report of two cases and demonstration of intermittent elevation of blood ammonia. Am. J. Med. 42: 9-26, 1967.
[0029185]19773.Sinclair, D. A.; Mills, K.; Guarente, L.: Accelerated aging and nucleolar fragmentation in yeast sgs1 mutants. Science. 277: 1313-1316, 1997.
[0029186]19774.Koster, J. F.; Busch, H. F. M.; Slee, R. G.; van Weerden, T. W. : Glycogenosis type II: the infantile- and late-onset acid maltase deficiency observed in one family. Clin. Chim. Acta 87: 451-453, 1978.
[0029187]19775.Kroos, M. A.; Van der Kraan, M.; Van Diggelen, O. P.; Kleijer, W. J.; Reuser, A. J. J.: Two extremes of the clinical spectrum of glycogen storage disease type II in one family: a matter of genotype. Hum. Mutat. 9: 17-22, 1997.
[0029188]19776.Kroos, M. A.; Van der Kraan, M.; Van Diggelen, O. P.; Kleijer, W. J.; Reuser, A. J. J.; Van den Boogaard, M. J.; Ausems, M. G. E. M.; Ploos van Amstel, H. K.; Poenaru, L.; Nicolino, M.; Wevers, R. : Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients. J. Med. Genet. 32: 836-837, 1995.
[0029189]19777.Loonen, M. C. B.; Schram, A. W.; Koster, J. F.; Niermeijer, M. F.; Busch, H. F. M.; Martin, J. J.; Brouwer-Kelder, B.; Mekes, W.; Slee, R. G.; Tager, J. M.: Identification of heterozygotes for glycogenosis 2 (acid maltase deficiency). Clin. Genet. 19: 55-63, 1981.
[0029190]19778.Martiniuk, F.; Bodkin, M.; Tzall, S.; Hirschhorn, R.: Identification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower 'affinity' for glycogen (GAA 2) and transient gene expression in deficient cells. Am. J. Hum. Genet. 47: 440-445, 1990.
[0029191]19779.Martiniuk, F.; Chen, A.; Mack, A.; Arvanitopoulos, E.; Chen, Y.; Rom, W. N.; Codd, W. J.; Hanna, B.; Alcabes, P.; Raben, N.; Plotz, P.: Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease. (Letter) Am. J. Med. Genet. 79: 69-72, 1998.
[0029192]19780.Diamond, T.; Stiel, D.; Posen, S.: Osteoporosis in hemochromatosis: iron excess, gonadal deficiency, or other factors? Ann. Intern. Med. 110: 430-436, 1989.
[0029193]19781.Dokal, I.; Lord, D.; Rhodes, D.; Bydder, G.; Cox, T.: Detection of hereditary haemochromatosis in an HLA-identical pedigree showing discordance between HLA class I genes and the disease locus. Hum. Genet. 88: 209-214, 1991.
[0029194]19782.Dugast, I. J.; Papadopoulos, P.; Zappone, E.; Jones, C.; Theriault, K.; Handelman, G. J.; Benarous, R.; Drysdale, J. W.: Identification of two human ferritin H genes on the short arm of chromosome 6. Genomics 6: 204-211, 1990.
[0029195]19783.Edwards, C. Q.; Carroll, M.; Bray, P. F.; Cartwright, G. E.: Hereditary hemochromatosis: diagnosis in siblings and children. New Eng. J. Med. 297: 7-13, 1977.
[0029196]19784.Edwards, C. Q.; Cartwright, G. E.; Skolnick, M. H.; Amos, D. B. : Homozygosity for hemochromatosis: clinical manifestations. Ann. Intern. Med. 93: 519-525, 1980.
[0029197]19785.Edwards, C. Q.; Griffen, L. M.; Dadone, M. M.; Skolnick, M. H.; Kushner, J. P.: Mapping the locus for hereditary hemochromatosis: localization between HLA-B and HLA-A. Am. J. Hum. Genet. 38: 805-811, 1986.
[0029198]19786.Edwards, C. Q.; Griffen, L. M.; Dadone, M. M.; Skolnick, M. H.; Kushner, J. P.: The locus for hereditary hemochromatosis maps between HLA-A and HLA-B. (Abstract) Cytogenet. Cell Genet. 40: 620, 1985.
[0029199]19787.Edwards, C. Q.; Griffen, L. M.; Goldgar, D.; Drummond, C.; Skolnick, M. H.; Kushner, J. P.: Prevalence of hemochromatosis among 11,065 presumably healthy blood donors. New Eng. J. Med. 318: 1355-1362, 1988.
[0029200]19788.Edwards, C. Q.; Skolnick, M. H.; Kushner, J. P.: Hereditary hemochromatosis: contributions of genetic analyses. Prog. Hemat. 12: 43-71, 1981.
[0029201]19789.Edwards, J. H.: Allelic association in man.In: Eriksson, A. W.; Forsius, H. R.; Nevanlinna, H. R.; Workman, P. L.; Norio, R. K. (eds.) : Population Structure and Genetic Disorders: Seventh Sigrid Juselius Foundation Symposium: Mariehamn, Aland Islands, Finland, August 1978. London: Academic Press 1980. Pp. 239-255.
[0029202]19790.El Kahloun, A.; Chauvel, B.; Mauvieux, V.; Dorval, I.; Jouanolle, A.-M.; Gicquel, I.; Le Gall, J.-Y.; David, V.: Localization of seven new genes around the HLA-A locus. Hum. Molec. Genet. 2: 55-60, 1993.
[0029203]19791.Elzouki, A.-N. Y.; Hultcrantz, R.; Stal, P.; Befrits, R.; Eriksson, S.: Increased PiZ gene frequency for alpha(1) antitrypsin in patients with genetic haemochromatosis. Gut 36: 922-926, 1995.
[0029204]19792.Eriksson, S.; Lindmark, B.; Hanik, L.: A Swedish family with alpha-1-antitrypsin deficiency, haemochromatosis, haemoglobinopathy D and early death in liver cirrhosis. J. Hepatol. 2: 65-72, 1986.
[0029205]19793.Escobar, G. J.; Heyman, M. B.; Smith, W. B.; Thaler, M. M.: Primary hemochromatosis in childhood. Pediatrics 80: 549-554, 1987.
[0029206]19794.European Haemochromatosis Consortium: Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results. (Letter) Nature Genet. 23: 271 only, 1999.
[0029207]19795.Feder, J. N.; Penny, D. M.; Irrinki, A.; Lee, V. K.; Lebron, J. A.; Watson, N.; Tsuchihashi, Z.; Sigal, E.; Bjorkman, P. J.; Schatzman, R. C.: The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proc. Nat. Acad. Sci. 95: 1472-1477, 1998.
[0029208]19796.Feder, J. N.; Tsuchihashi, Z.; Irrinki, A.; Lee, V. K.; Mapa, F. A.; Morikang, E.; Prass, C. E.; Starnes, S. M.; Wolff, R. K.; Parkkila, S.; Sly, W. S.; Schatzman, R. C. :J. Biol. Chem. 272: 14025-14028, 1997.
[0029209]19797.Feller, E. R.; Pont, A.; Wands, J. R.; Carter, E. A.; Foster, G.; Kourides, I. A.; Isselbacher, K. J.: Familial hemochromatosis: physiologic studies in the precirrhotic stage of the disease. New Eng. J. Med. 296: 1422-1426, 1977.
[0029210]19798.Felts, J. H.; Nelson, J. R.; Herndon, C. N.; Spurr, C. L.: Hemochromatosis in two young sisters: case studies and a family survey. Ann. Intern. Med. 67: 117-123, 1967.
[0029211]19799.Feder, J. N.; Gnirke, A.; Thomas, W.; Tsuchihashi, Z.; Ruddy, D. A.; Basava, A.; Dormishian, F.; Domingo, R., Jr.; Ellis, M. C.; Fullan, A.; Hinton, L. M.; Jones, N. L.; Kimmel, B. E.; Kronmal, G. S.; Lauer, P.; Lee, V. K.; Loeb, D. B.; Mapa, F. A.; McClelland, E.; Meyer, N. C.; Mintier, G. A.; Moeller, N.; Moore, T.; Morikang, E.; Prass, C. E.; Quintana, L.; Starnes, S. M.; Schatzman, R. C.; Brunke, K. J.; Drayna, D. T.; Risch, N. J.; Bacon, B. R.; Wolff, R. K.: A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nature Genet. 13: 399-408, 1996.
[0029212]19800.Fleming, R. E.; Holden, C. C.; Tomatsu, S.; Waheed, A.; Brunt, E. M.; Britton, R. S.; Bacon, B. R.; Roopenian, D. C.; Sly, W. S. : Mouse strain differences determine severity of iron accumulation in Hfe knockout model of hereditary hemochromatosis. Proc. Nat. Acad. Sci. 98: 2707-2711, 2001.
[0029213]19801.Fleming, R. E.; Migas, M. C.; Zhou, X. Y.; Jiang, J.; Britton, R. S.; Brunt, E. M.; Tomatsu, S.; Waheed, A.; Bacon, B. R.; Sly, W. S.: Mechanism of increased iron absorption in murine model of hereditary hemochromatosis: increased duodenal expression of the iron transporter DMT1. Proc. Nat. Acad. Sci. 96: 3143-3148, 1999.
[0029214]19802.Goei, V. L.; Parimoo, S.; Capossela, A.; Chu, T. W.; Gruen, J. R.: Isolation of novel non-HLA gene fragments from the hemochromatosis region (6p21.3) by cDNA hybridization selection. Am. J. Hum. Genet. 54: 244-251, 1994.
[0029215]19803.Gomez, P. S.; Parks, S.; Ries, R.; Tran, T. C.; Gomez, P. F.; Press, R. D.: Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results (Letter) Nature Genet. 23: 272 only, 1999.
[0029216]19804.Gordeuk, V.; Mukiibi, J.; Hasstedt, S.; Samowitz, W.; Edwards, C. Q.; West, G.; Ndambire, S.; Emmamial, J.; Nkanza, N.; Chapanduka, Z.; Randall, M.; Boone, P.; Romano, P.; Martell, R. W.; Yamashita, T.; Effler, P.; Brittenham, G. :New Eng. J. Med. 326: 95-100, 1992.
[0029217]19805.Griffiths, W.; Cox, T.: Haemochromatosis: novel gene discovery and the molecular pathophysiology of iron metabolism. Hum. Molec. Genet. 9: 2377-2382, 2000.
[0029218]19806.Grove, J.; Daly, A. K.; Burt, A. D.; Guzail, M.; James, O. F. W.; Bassendine, M. F.; Day, C. P.: Heterozygotes for HFE mutations have no increased risk of advanced alcoholic liver disease. Gut 43: 262-266, 1998.
[0029219]19807.Halliday, J. W.; Cowlishaw, J. L.; Russo, A. M.; Powell, L. W. : Serum-ferritin in diagnosis of haemochromatosis: a study of 43 families. Lancet II: 621-624, 1977.
[0029220]19808.Hardy, L.; Hansen, J. L.; Kushner, J. P.; Knisely, A. S.: Neonatal hemochromatosis: genetic analysis of transferrin-receptor, H-apoferritin, and L-apoferritin loci and of the human leukocyte antigen class I region. Am. J. Path. 137: 149-153, 1990.
[0029221]19809.Beattie, E. C.; Stellwagen, D.; Morishita, W.; Bresnahan, J. C.; Ha, B. K.; Von Zastrow, M.; Beattie, M. S.; Malenka, R. C.: Control of synaptic strength by glial TNF-alpha. Science 295: 2282-2285, 2002.
[0029222]19810.Beutler, B.; Krochin, N.; Milsark, I. W.; Luedke, C.; Cerami, A. : Control of cachectin (tumor necrosis factor) synthesis: mechanisms of endotoxin resistance. Science 232: 977-980, 1986.
[0029223]19811.Brenner, D. A.; O'Hara, M.; Angel, P.; Chojkier, M.; Karin, M. : Prolonged activation of JUN and collagenase genes by tumour necrosis factor-alpha. Nature 337: 661-663, 1989.
[0029224]19812.Broudy, V. C.; Kaushansky, K.; Segal, G. M.; Harlan, J. M.; Adamson, J. W.: Tumor necrosis factor type alpha stimulates human endothelial cells to produce granulocyte/macrophage colonystimulating factor. Proc. Nat. Acad. Sci. 83: 7467-7471, 1986.
[0029225]19813.Bruce, A. J.; Boling, W.; Kindy, M. S.; Peschon, J.; Kraemer, P. J.; Carpenter, M. K.; Holtsberg, F. W.; Mattson, M. P.: Altered neuronal and microglial responses to excitotoxic and ischemic brain injury in mice lacking TNF receptors. Nature Med. 2: 788-794, 1996.
[0029226]19814.Cabrera, M.; Shaw, M. A.; Sharples, C.; Williams, H.; Castes, M.; Convit, J.; Blackwell, J. M.: Polymorphism in tumor necrosis factor genes associated with mucocutaneous leishmaniasis. J. Exp. Med. 182: 1259-1264, 1995.
[0029227]19815.Conway, D. J.; Holland, M. J.; Bailey, R. L.; Campbell, A. E.; Mahdi, O. S.; Jennings, R.; Mbena, E.; Mabey, D. C.: Scarring trachoma is associated with polymorphism in the tumor necrosis factor alpha (TNF-alpha) gene promoter and with elevated TNF-alpha levels in tear fluid. Infect. Immun. 65: 1003-1006, 1997.
[0029228]19816.Davis, J. M.; Narachi, M. A.; Alton, N. K.; Arakawa, T.: Structure of human tumor necrosis factor alpha derived from recombinant DNA. Biochemistry 26: 1322-1326, 1987.
[0029229]19817.Escobar-Morreale, H. F.; Calvo, R. M.; Sancho, J.; San Millan, J. L.: TNF-alpha and hyperandrogenism: a clinical, biochemical, and molecular genetic study. J. Clin. Endocr. Metab. 86: 3761-3767, 2001.
[0029230]19818.Gorman, J. D.; Sack, K. E.; Davis, J. C., Jr.: Treatment of ankylosing spondylitis by inhibition of tumor necrosis factor-alpha. New Eng. J. Med. 346: 1349-1356, 2002.
[0029231]19819.Herrmann, S.-M.; Ricard, S.; Nicaud, V.; Mallet, C.; Arveiler, D.; Evans, A.; Ruidavets, J.-B.; Luc, G.; Bara, L.; Parra, H.-J.; Poirier, O.; Cambien, F.: Polymorphisms of the tumour necrosis factor-alpha gene, coronary heart disease and obesity. Europ. J. Clin. Invest. 28: 59-66, 1998.
[0029232]19820.Inoko, H.; Trowsdale, J.: Linkage of TNF genes to the HLA-B locus. Nucleic Acids Res. 15: 8957-8962, 1987.
[0029233]19821.Knight, J. C.; Udalova, I.; Hill, A. V. S.; Greenwood, B. M.; Peshu, N.; Marsh, K.; Kwiatkowski, D.: A polymorphism that affects OCT-1 binding to the TNF promoter region is associated with severe malaria. Nature Genet. 22: 145-150, 1999.
[0029234]19822.Koss, K.; Satsangi, J.; Fanning, G. C.; Welsh, K. I.; Jewell, D. P.: Cytokine (TNFalpha, LT-alpha, and IL-10) polymorphisms in inflammatory bowel diseases and normal controls: differential effects on production and allele frequencies. Genes Immun. 1: 185-190, 2000.
[0029235]19823.Marino, M. W.; Dunn, A.; Grail, D.; Inglese, M.; Noguchi, Y.; Richards, E.; Jungbluth, A.; Wada, H.; Moore, M.; Williamson, B.; Basu, S.; Old, L. J.: Characterization of tumor necrosis factordeficient mice. Proc. Nat. Acad. Sci. 94: 8093-8098, 1997.
[0029236]19824.McCusker, S. M.; Curran, M. D.; Dynan, K. B.; McCullagh, C. D.; Urquhart, D. D.; Middleton, D.; Patterson, C. C.; McIlroy, S. P.; Passmore, A. P.: Association between polymorphism in regulatory region of gene encoding tumour necrosis factor-alpha and risk of Alzheimer's disease and vascular dementia: a case-control study. Lancet 357: 436-439, 2001.
[0029237]19825.Remaley, A. T.; Rust, S.; Rosier, M.; Knapper, C.; Naudin, L.; Broccardo, C.; Peterson, K. M.; Koch, C.; Arnould, I.; Prades, C.; Duverger, N.; Funke, H.; Assman, G.; Dinger, M.; Dean, M.; Chimini, G.; Santamarina-Fojo, S.; Fredrickson, D. S.; Denefle, P. Brewer, H. B., Jr.: Human ATP-binding cassette transporter 1 (ABC1): genomic organization and identification of the genetic defect in the original Tangier disease kindred. Proc. Nat. Acad. Sci. 96: 12685-12690, 1999.
[0029238]19826.Rust, S.; Rosier, M.; Funke, H.; Real, J.; Amoura, Z.; Piette, J.-C.; Deleuze, J.-F.; Brewer, H. B.; Duverger, N.; Denefle, P.; Assmann, G.: Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1. Nature Genet. 22: 352-355, 1999.
[0029239]19827.Young, S. G.; Fielding, C. J.: The ABCs of cholesterol efflux. Nature Genet. 22: 316-318, 1999.
[0029240]19828.Garcia-Higuera, I.; Taniguchi, T.; Ganesan, S.; Meyn, M. S.; Timmers, C.; Hejna, J.; Grompe, M.; D'Andrea, A. D.: Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway. Molec. Cell 7: 249-262, 2001.
[0029241]19829.Mudd, S. H.; Levy, H. L.; Abeles, R. H.: A derangement in B12 metabolism leading to homocystinemia, cystathioninemia and methylmalonic aciduria. Biochem. Biophys. Res. Commun. 35: 121-126, 1969.
[0029242]19830.Mudd, S. H.; Levy, H. L.; Skovby, F.: Disorders of transsulfuration.In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic and Molecular Bases of Inherited Disease. Vol. 1. New York: McGraw-Hill (7th ed.): 1995. Pp. 1279-1327.
[0029243]19831.Mudd, S. H.; Skovby, F.; Levy, H. L.; Pettigrew, K. D.; Wilcken, B.; Pyeritz, R. E.; Andria, G.; Boers, G. H. J.; Bromberg, I. L.; Cerone, R.; Fowler, B.; Grobe, H.; Schmidt, H.; Schweitzer, L.: The natural history of homocystinuria due to cystathionine beta-synthase deficiency. Am. J. Hum. Genet. 37: 1-31, 1985.
[0029244]19832.Munke, M.; Kraus, J.; Watkins, P.; Tanzi, R.; Gusella, J.; Millington Ward, A.; Watson, M.; Francke, U.: Homocystinuria gene on human chromosome 21 mapped with cloned cystathionine beta-synthase probe and in situ hybridization of other chromosome 21 probes. (Abstract) Cytogenet. Cell Genet. 40: 706-707, 1985.
[0029245]19833.Munke, M.; Kraus, J. P.; Ohura, T.; Francke, U.: The gene for cystathionine betasynthase (CBS) maps to the subtelomeric region on human chromosome 21q and to proximal mouse chromosome 17. Am. J. Hum. Genet. 42: 550-559, 1988.
[0029246]19834.Munnich, A.; Saudubray, J.-M.; Dautzenberg, M.-D.; Parvy, P.; Ogier, H.; Girot, R.; Manigne, P.; Frezal, J.: Diet-responsive proconvertin (factor VII) deficiency in homocystinuria. J. Pediat. 102: 730-734, 1983.
[0029247]19835.Nishinaga, M.; Ozawa, T.; Shimada, K.: Homocysteine, a thrombogenic agent, suppresses anticoagulant heparan sulfate expression in cultured porcine aortic endothelial cells. J. Clin. Invest. 92: 1381-1386, 1993.
[0029248]19836.Nugent, A.; Hadden, D. R.; Carson, N. A. J.: Long-term survival of homocystinuria: the first case. Lancet 352: 624-625, 1998.
[0029249]19837.Perry, T. L.; Hansen, S.; Love, D. L.; Crawford, L. E.; Tischler, B.: Treatment of homocystinuria with a low-methionine diet, supplemental cystine and a methyl donor. Lancet II: 474-478, 1968.
[0029250]19838.Peterschmitt, M. J.; Simmons, J. R.; Levy, H. L.: Reduction of false negative results in screening of newborns for homocystinuria. New Eng. J. Med. 341: 1572-1576, 1999.
[0029251]19839.Pogribna, M.; Melnyk, S.; Pogribny, I.; Chango, A.; Yi, P.; James, S. J.: Homocysteine metabolism in children with Down syndrome: in vitro modulation. Am. J. Hum. Genet. 69: 88-95, 2001.
[0029252]19840.Ratnoff, O. D.: Activation of Hageman factor by L-homocystine. Science 162: 1007-1009, 1968.
[0029253]19841.Reish, O.; Townsend, D.; Berry, S. A.; Tsai, M. Y.; King, R. A. : Tyrosinase inhibition due to interaction of homocyst(e)ine with copper: the mechanism for reversible hypopigmentation in homocystinuria due to cystathionine beta-synthase deficiency. Am. J. Hum. Genet. 57: 127-132, 1995.
[0029254]19842.Rosenquist, T. H.; Ratashak, S. A.; Selhub, J.: Homocysteine induces congenital defects of the heart and neural tube: effect of folic acid. Proc. Nat. Acad. Sci. 93: 15227-15232, 1996.
[0029255]19843.Saudubray, J. M.: Personal Communication. Paris, France 5/20/1997.
[0029256]19844.Schimke, R. N.; McKusick, V. A.; Huang, T.; Pollack, A. D.: Homocystinuria: studies of 20 families with 38 affected members. J.A.M.A. 193: 711-719, 1965.
[0029257]19845.Schnyder, G.; Roffi, M.; Pin, R.; Flammer, Y.; Lange, H.; Eberli, F. R.; Meier, B.; Turi, Z. G.; Hess, O. M.: Decreased rate of coronary restenosis after lowering of plasma homocysteine levels. New Eng. J. Med. 345: 1593-1600, 2001.
[0029258]19846.Sebastio, G.: Personal Communication. Padua, Italy 3/20/1997.
[0029259]19847.Sebastio, G.; Sperandeo, M. P.; Panico, M.; de Franchis, R.; Kraus, J. P.; Andria, G.: The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations. Am. J. Hum. Genet. 56: 1324-1333, 1995.
[0029260]19848.Shan, X.; Dunbrack, R. L., Jr.; Christopher, S. A.; Kruger, W. D.: Mutations in the regulatory domain of cystathionine beta-synthase can functionally suppress patient-derived mutations in cis. Hum. Molec. Genet. 10: 635-643, 2001.
[0029261]19849.Shan, X.; Kruger, W. D.: Correction of disease-causing CBS mutations in yeast. Nature Genet. 19: 91-93, 1998.
[0029262]19850.Taniguchi, T.; Garcia-Higuera, I.; Xu, B.; Andreassen, P. R.; Gregory, R. C.; Kim, S.-T.; Lane, W. S.; Kastan, M. B.; D'Andrea, A. D.: Convergence of the Fanconi anemia and ataxia telangiectasia signaling pathways. Cell 109: 459-472, 2002.
[0029263]19851.Timmers, C.; Taniguchi, T.; Hejna, J.; Reifsteck, C.; Lucas, L.; Bruun, D.; Thayer, M.; Cox, B.; Olson, S.; D'Andrea, A. D.; Moses, R.; Grompe, M.: Positional cloning of a novel Fanconi anemia gene, FANCD2. Molec. Cell 7: 241-248, 2001.
[0029264]19852.Whitney, M.; Thayer, M.; Reifsteck, C.; Olson, S.; Smith, L.; Jakobs, P. M.; Leach, R.; Naylor, S.; Joenje, H.; Grompe, M.: Microcell mediated chromosome transfer maps the Fanconi anaemia group D gene to chromosome 3p. Nature Genet. 11: 341-343, 1995.
[0029265]19853.Hejna, J. A.; Timmers, C. D.; Reifsteck, C.; Bruun, D. A.; Lucas, L. W.; Jakobs, P. M.; Toth-Fejel, S.; Unsworth, N.; Clemens, S. L.; Garcia, D. K.; Naylor, S. L.; Thayer, M. J.; Olson, S. B.; Grompe, M.; Moses, R. E.: Localization of the Fanconi anemia complementation group D gene to a 200-kb region on chromosome 3p25.3. Am. J. Hum. Genet. 66: 1540-1551, 2000.
[0029266]19854.Buchwald, M.: Complementation groups: one or more per gene? Nature Genet. 11: 228-230, 1995.
[0029267]19855.Stambolian, D.; Ai, Y.; Sidjanin, D.; Nesburn, K.; Sathe, G.; Rosenberg, M.; Bergsma, D. J.: Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts. Nature Genet. 10: 307-312, 1995.
[0029268]19856.Alano, A.; Almashanu, S.; Chinsky, J. M.; Costeas, P.; Blitzer, M. G.; Wulfsberg, E. A.; Cowan, T. M.: Molecular characterization of a unique patient with epimerase-deficiency galactosaemia. J. Inherit. Metab. Dis. 21: 341-350, 1998.
[0029269]19857.Daude, N.; Gallaher, T. K.; Zeschnigk, M.; Starzinski-Powitz, A.; Petry, K. G.; Haworth, I. S.; Reichardt, J. K. V.: Molecular cloning, characterization, and mapping of a full-length cDNA encoding human UDP-galactose 4-prime-epimerase. Biochem. Molec. Med. 56: 1-7, 1995.
[0029270]19858.Henderson, M. J.; Holton, J. B.; MacFaul, R.: Further observations in a case of uridine diphosphate galactose-4-epimerase deficiency with a severe clinical presentation. J. Inherit. Metab. Dis. 6: 17-20, 1983.
[0029271]19859.Holton, J. B.; Gillett, M. G.; MacFaul, R.; Young, R.: Galactosaemia: a new severe variant due to uridine diphosphate galactose-4-epimerase deficiency. Arch. Dis. Child. 56: 885-887, 1981.
[0029272]19860.Kingsley, D. M.; Kozarsky, K. F.; Hobbie, L.; Krieger, M.: Reversible defects in Olinked glycosylation and LDL receptor expression in a UDP-Gal/UDP-GalNAc 4-epimerase deficient mutant. Cell 44: 749-759, 1986.
[0029273]19861.Maceratesi, P.; Daude, N.; Dallapiccola, B.; Novelli, G.; Allen, R.; Okano, Y.; Reichardt, J.: Human UDP-galactose 4-prime epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia. Molec. Genet. Metab. 63: 26-30, 1998.
[0029274]19862.Piller, F.; Hanlon, M. H.; Hill, R. L.: Co-purification and characterization of UDPglucose 4-epimerase and UDP-N-acetylglucosamine 4-epimerase from porcine submaxillary glands. J. Biol. Chem. 258: 10774-10778, 1983.
[0029275]19863.Quimby, B. B.; Alano, A.; Almashanu, S.; DeSandro, A. M.; Cowan, T. M.; Fridovich-Keil, J. L.: Characterization of two mutations associated with epimerase-deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase. Am. J. Hum. Genet. 61: 590-598, 1997.
[0029276]19864.Dubiel, B.; Dabrowski, C.; Wetts, R.; Tanaka, K.: Complementation studies of isovaleric acidemia and glutaric aciduria type II using cultured skin fibroblasts. J. Clin. Invest. 72: 1543-1552, 1983.
[0029277]19865.McKusick, V. A.: Ellis-van Creveld syndrome and the Amish. Nature Genet. 24: 203-204, 2000.
[0029278]19866.McKusick, V. A.; Egeland, J. A.; Eldridge, R.; Krusen, D. E.: Dwarfism in the Amish. I. The Ellis-van Creveld syndrome. Bull. Johns Hopkins Hosp. 115: 306-336, 1964.
[0029279]19867.Coppola, G.; De Michele, G.; Cavalcanti, F.; Pianese, L.; Perretti, A.; Santoro, L.; Vita, G.; Toscano, A.; Amboni, M.; Grimaldi, G.; Salvatore, E.; Caruso, G.; Filla, A.: Why do some Friedreich's ataxia patients retain tendon reflexes? A clinical, neurophysiological and molecular study. J. Neurol. 246: 353-357, 1999.
[0029280]19868.Delatycki, M. B.; Knight, M.; Koenig, M.; Cossee, M.; Williamson, R.; Forrest, S. M.: G130V, a common FRDA point mutation, appears to have arisen from a common founder. Hum. Genet. 105: 343-346, 1999.
[0029281]19869.Delatycki, M. B.; Paris, D. B. B. P.; Gardner, R. J. M.; Nicholson, G. A.; Nassif, N.; Storey, E.; MacMillan, J. C.; Collins, V.; Williamson, R.; Forrest, S. M.: Clinical and genetic study of Friedreich ataxia in an Australian population. Am. J. Med. Genet. 87: 168-174, 1999.
[0029282]19870.Durr, A.; Cossee, M.; Agid, Y.; Campuzano, V.; Mignard, C.; Penet, C.; Mandel, J.-L.; Brice, A.; Koenig, M.: Clinical and genetic abnormalities in patients with Friedreich's ataxia. New Eng. J. Med. 335: 1169-1175, 1996.
[0029283]19871.Filla, A.; De Michele, G.; Cavalcanti, F.; Pianese, L.; Monticelli, A.; Campanella, G.; Cocozza, S.: The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. Am. J. Hum. Genet. 59: 554-560, 1996.
[0029284]19872.Fujita, R.; Hanauer, A.; Vincent, A.; Mandel, J.-L.; Koenig, M. : Physical mapping of two loci (D9S5 and D9S15) tightly linked to Friedreich ataxia locus (FRDA) and identification of nearby CpG islands by pulse-field gel electrophoresis. Genomics 10: 915-920, 1991.
[0029285]19873.Gray, J. V.; Johnson, K. J.: Waiting for frataxin. Nature Genet. 16: 323-325, 1997.
[0029286]19874.Kenney, R. T.; Malech, H. L.; Epstein, N. D.; Roberts, R. L.; Leto, T. L.: Characterization of the p67-phox gene: genomic organization and restriction fragment length polymorphism analysis for prenatal diagnosis in chronic granulomatous disease. Blood 82: 3739-3744, 1993.
[0029287]19875.Noack, D.; Rae, J.; Cross, A. R.; Munoz, J.; Salmen, S.; Mendoza, J. A.; Rossi, N.; Curnutte, J. T.; Heyworth, P. G.: Autosomal recessive chronic granulomatous disease caused by novel mutations in NCF-2, the gene encoding the p67-phox component of phagocyte NADPH oxidase. Hum. Genet. 105: 460-467, 1999.
[0029288]19876.Nunoi, H.; Iwata, M.; Tatsuzawa, S.; Onoe, Y.; Shimizu, S.; Kanegasaki, S.; Matsuda, I.: AG dinucleotide insertion in a patient with chronic granulomatous disease lacking cytosolic 67-kD protein. Blood 86: 329-333, 1995.
[0029289]19877.Okamura, N.; Babior, B. M.; Mayo, L. A.; Peveri, P.; Smith, R. M.; Curnutte, J. T.: The p67-phox cytosolic peptide of the respiratory burst oxidase from human neutrophils: functional aspects. J. Clin. Invest. 85: 1583-1587, 1990.
[0029290]19878.Patino, P. J.; Rae, J.; Noack, D.; Erickson, R.; Ding, J.; Garcia de Olarte, D.; Curnutte, J. T.: Molecular characterization of autosomal recessive chronic granulomatous disease caused by a defect of the nicotinamide adenine dinucleotide phosphate (reduced form) oxidase component p67-phox. Blood 94: 2505-2514, 1999.
[0029291]19879.Tanugi-Cholley, L. C.; Issartel, J.-P.; Lunardi, J.; Freycon, F.; Morel, F.; Vignais, P. V.: A mutation located at the 5-prime splice junction sequence of intron 3 in the p67-phox gene causes the lack of p67-phox mRNA in a patient with chronic granulomatous disease. Blood 85: 242-249, 1995.
[0029292]19880.Forsius, H.; Eriksson, A.; Nuutila, A.; Vainio-Mattila, B.; Krause, U.: A genetic study of three rare retinal disorders: dystrophia retinae dysacusis syndrome, X-chromosomal retinoschisis and grouped pigments of the retina. Birth Defects Orig. Art. Ser. VII(3): 83-98, 1971.
[0029293]19881.Hassin, G. B.: Amaurotic family idiocy: late infantile type (Bielschowsky) with the clinical picture of decerebrate rigidity. Arch. Neurol. Psychiat. 16: 708-727, 1926.
[0029294]19882.Jarvela, I.: Infantile neuronal ceroid lipofuscinosis (CLN1): linkage disequilibrium in the Finnish population and evidence that variant late infantile form (variant CLN2) represents a nonallelic locus. Genomics 10: 333-337, 1991.
[0029295]19883.Liu, C.-G.; Sleat, D. E.; Donnelly, R. J.; Lobel, P.: Structural organization and sequence of CLN2, the defective gene in classical late infantile neuronal ceroid lipofuscinosis. Genomics 50: 206-212, 1998.
[0029296]19884.MacLeod, P. M.; Dolman, C. L.; Nickel, R. E.; Chang, E.; Nag, S.; Zonana, J.; Silvey, K.: Prenatal diagnosis of neuronal ceroid-lipofuscinoses. Am. J. Med. Genet. 22: 781-789, 1985.
[0029297]19885.MacLeod, P. M.; Dolman, C. L.; Nickel, R. E.; Chang, E.; Zonana, J.; Silvey, K.: Prenatal diagnosis of neuronal ceroid lipofuscinosis (Letter) New Eng. J. Med. 310: 595 only, 1984.
[0029298]19886.Seitelberger, F.; Vogel, G.; Stepan, H.: Spaetinfantile amaurotische Idiotie. Arch. Psychiat. Nervenkr. 196: 154-190, 1957.
[0029299]19887.Sharp, J.; Savukoski, M.; Wheeler, R. B.; Harris, J.; Jarvela, I.; Peltonen, L.; Gardiner, M.; Williams, R.: Linkage analysis of late-infantile neuronal ceroid-lipofuscinosis. Am. J. Med. Genet. 57: 348-349, 1995.
[0029300]19888.Sharp, J. D.; Wheeler, R. B.; Lake, B. D.; Savukoski, M.; Jarvela, I. E.; Peltonen, L.; Gardiner, R. M.; Williams, R. E.: Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23. Hum. Molec. Genet. 6: 591-595, 1997.
[0029301]19889.Sleat, D. E.; Donnelly, R. J.; Lackland, H.; Liu, C.-G.; Sohar, I.; Pullarkat, R. K.; Lobel, P.: Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. Science 277: 1802-1805, 1997.
[0029302]19890.Sleat, D. E.; Gin, R. M.; Sohar, I.; Wisniewski, K.; Sklower-Brooks, S.; Pullarkat, R. K.; Palmer, D. N.; Lerner, T. J.; Boustany, R.-M.; Uldall, P.; Siakotos, A. N.; Donnelly, R. J.; Lobel, P.: Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder. Am. J. Hum. Genet. 64: 1511-1523, 1999.
[0029303]19891.Sohar, I.; Sleat, D. E.; Jadot, M.; Lobel, P.: Biochemical characterization of a lysosomal protease deficient in classical late infantile neuronal ceroid lipofuscinosis (LINCL) and development of an enzyme-based assay for diagnosis and exclusion of LINCL in human specimens and animal models. J. Neurochem. 73: 700-711, 1999.
[0029304]19892.Volk, B. W.; Wallace, B. J.; Schneck, L.; Saifer, A.: Late infantile amaurotic idiocy. Ultramicroscopic and histochemical studies on a case. Arch. Path. 78: 483-500, 1964.
[0029305]19893.Williams, R.; Vesa, J.; Jarvela, I.; McKay, T.; Mitchison, H.; Hellsten, E.; Thompson, A.; Callen, D.; Sutherland, G.; Luna-Battadano, D.; Stallings, R.; Peltonen, L.; Gardiner, M.: Genetic heterogeneity in neuronal ceroid lipofuscinosis (NCL): evidence that the late-infantile subtype (Jansky-Bielschowsky disease; CLN2) is not an allelic form of the juvenile or infantile subtypes. Am. J. Hum. Genet. 53: 931-935, 1993.
[0029306]19894.Yan, W.; Boustany, R.-M. N.; Konradi, C.; Ozelius, L.; Lerner, T.; Trofatter, J. A.; Julier, C.; Breakefield, X. O.; Gusella, J. F.; Haines, J. L.: Localization of juvenile, but not late-infantile, neuronal ceroid lipofuscinosis on chromosome 16. Am. J. Hum. Genet. 52: 89-95, 1993.
[0029307]19895.Zhong, N.; Wisniewski, K. E.; Hartikainen, J.; Ju, W.; Moroziewicz, D. N.; McLendon, L.; Sklower Brooks, S.; Brown, W. T.: Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipofuscinosis. Clin. Genet. 54: 234-238, 1998.
[0029308]19896.Harnden, D. G.: Ataxia-telangiectasia syndrome: cytogenetic and cancer aspects.In: German, J.: Chromosomes and Cancer. New York: Wiley (pub.) 1974. Pp. 619-636.
[0029309]19897.Hartwell, L.: Defects in a cell cycle checkpoint may be responsible for the genomic instability of cancer cells. Cell 71: 543-546, 1992.
[0029310]19898.Hawley, R. S.; Friend, S. H.: Strange bedfellows in even stranger places: the role of ATM in meiotic cells, lymphocytes, tumors, and its functional links to p53. Genes Dev. 10: 2383-2388, 1996.
[0029311]19899.Hecht, F.; Koler, R. D.; Rigas, D. A.; Dahnke, G. S.; Case, M. P.; Tisdale, V.; Miller, R. W.: Leukemia and lymphocytes in ataxia-telangiectasia. (Letter) Lancet II: 1193, 1966.
[0029312]19900.Henderson, L.; Cole, H.; Arlett, C.; James, S. E.; Cole, J.; Lehmann, A.; Rosenbloom, L.; Redmond, T.; Meller, S.: Diagnosis of ataxia-telangiectasia by T-lymphocyte cloning assay. (Letter) Lancet II: 1242, 1985.
[0029313]19901.Hernandez, D.; McConville, C. M.; Stacey, M.; Woods, C. G.; Brown, M. M.; Shutt, P.; Rysiecki, G.; Taylor, A. M. R.: A family showing no evidence of linkage between the ataxia telangiectasia gene and chromosome 11q22-23. J. Med. Genet. 30: 135-140, 1993.
[0029314]19902.Hoar, D. I.; Sargent, P.: Chemical mutagen hypersensitivity in ataxia-telangiectasia. Nature 261: 590-592, 1976.
[0029315]19903.Hodge, S. E.; Berkel, A. I.; Gatti, R. A.; Boder, E.; Spence, M. A.: Ataxiatelangiectasia and xeroderma pigmentosum: no evidence of linkage to HLA. Tissue Antigens 15: 313-317, 1980.
[0029316]19904.Huang, P. C.; Sheridan, R. B., III: Genetic and biochemical studies with ataxia telangiectasia. Hum. Genet. 59: 1-9, 1981.
[0029317]19905.Humphreys, M. W.; Nevin, N. C.; Wooldridge, M. A. W.: Cytogenetic investigations in a family with ataxia telangiectasia. Hum. Genet. 83: 79-82, 1989.
[0029318]19906.Imai, T.: Personal Communication. Chiba, Japan 9/12/1996. 100. Ishiguro, T.; Taketa, K.; Gatti, R. A.: Tissue of origin of elevated alpha-fetoprotein in ataxia-telangiectasia. Dis. Markers 4: 293-297, 1986. 101. Jaspers, N. G. J.; Bootsma, D.: Genetic heterogeneity in ataxia-telangiectasia studied by cell fusion. Proc. Nat. Acad. Sci. 79: 2641-2644, 1982. 102. Jaspers, N. G. J.; Gatti, R. A.; Baan, C.; Linssen, P. C. M. L.; Bootsma, D.: Genetic complementation analysis of ataxia telangiectasia and Nijmegen breakage syndrome: a survey of 50 patients. Cytogenet. Cell Genet. 49: 259-263, 1988. 103. Jaspers, N. G. J.; Painter, R. B.; Paterson, M. C.; Kidson, C.; Inoue, T.: Complementation analysis of ataxia-telangiectasia.In: Gatti, R. A.; Swift, M.: Ataxia-telangiectasia: Genetics, Neuropathology and Immunology of a Degenerative Disease of Childhood. New York: Alan R. Liss (pub.) 1985. Pp. 147-162. 104. Johnson, J. P.; Gatti, R. A.; Sears, T. S.; White, R. L.: Inverted duplication of J(H) associated with chromosome 14 translocation and T-cell leukemia in ataxia-telangiectasia. Am. J. Hum. Genet. 39: 787-796, 1986. 105. Johnson, J. P.; White, R. L.; Gatti, R. A.: Rearrangement of J(H) genes in a patient with ataxia telangiectasia, chromosome 14 translocation, and T-cell leukemia. (Abstract) Am. J. Hum. Genet. 37: A100, 1985. 106. Jung, M.; Zhang, Y.; Lee, S.; Dritschilo, A.: Correction of radiation sensitivity in ataxia telangiectasia cells by a truncated I-kappa-B-alpha. Science 268: 1619-1621, 1995. 107. Kapp, L. N.; Painter, R. B.; Yu, L.-C.; van Loon, N.; Richard, C. W., III; James, M. R.; Cox, D. R.; Murnane, J. P.: Cloning of a candidate gene for ataxia-telangiectasia group D. Am. J. Hum. Genet. 51: 45-54, 1992. 108. Kastan, K.: Clinical implications of basic research: ataxia-telangiectasia--broad implications for a rare disorder. New Eng. J. Med. 333: 662-663, 1995. 109. Kastan, M. B.; Onyekwere, O.; Sidransky, D.; Vogelstein, B.; Craig, R. W.: Participation of p53 protein in the cellular response to DNA damage. Cancer Res. 51: 6304-6311, 1991. 110. Kastan, M. B.; Zhan, Q.; El-Deiry, W. S.; Carrier, F.; Jacks, T.; Walsh, W. V.; Plunkett, B. S.; Vogelstein, B.; Fornace, A. J., Jr.: A mammalian cell cycle checkpoint pathway utilizing p53 and GADD45 is defective in ataxia-telangiectasia. Cell 71: 587-597, 1992. 111. Kennaugh, A. A.; Butterworth, S. V.; Hollis, R.; Baer, R.; Rabbitts, T. H.; Taylor, A. M. R.: The chromosome breakpoint at 14q32 in an ataxia telangiectasia t(14;14) T cell clone is different from the 14q32 breakpoint in Burkitts and an inv(14) T cell lymphoma. Hum. Genet. 73: 254-259, 1986. 112. Khanna, K. K.; Keating, K. E.; Kozlov, S.; Scott, S.; Gatei, M.; Hobson, K.; Taya, Y.; Gabrielli, B.; Chan, D.; Lees-Miller, S. P.; Lavin, M. F.: ATM associates with and phosphorylates p53: mapping the region of interaction. Nature Genet. 20: 398-400, 1998. 113. Klein, C.; Wenning, G. K.; Quinn, N. P.; Marsden, C. D.: Ataxia without telangiectasia masquerading as benign hereditary chorea. Mov. Disord. 11: 217-220, 1996. 114. Kojis, T. L.; Schreck, R. R.; Gatti, R. A.; Sparkes, R. S.: Tissue specificity of chromosomal rearrangements in ataxia-telangiectasia. Hum. Genet. 83: 347-352, 1989. 115. Komatsu, K.; Kodama, S.; Okumura, Y.; Koi, M.; Oshimura, M.: Restoration of radiation resistance in ataxiatelangiectasia cells by the introduction of normal human chromosome 11. Mutat. Res. 235: 59-63, 1990. 116. Komatsu, K.; Matsuura, S.; Tauchi, H.; Endo, S.; Kodama, S.; Smeets, D.; Weemaes, C.; Oshimura, M.: The gene for Nijmegen breakage syndrome (V2) is not located on chromosome 11. (Letter) Am. J. Hum. Genet. 58: 885-888, 1996. 117. Korein, J.; Steinman, P. A.; Senz, E. H.: Ataxia-telangiectasia: report of a case and review of the literature. Arch. Neurol. 4: 272-280, 1961. 118. Krishna Kumar, G.; Al Saadi, A.; Yang, S. S.; McCaughey, R. S. : Ataxia-telangiectasia and hepatocellular carcinoma. Am. J. Med. Sci. 278: 157-160, 1979. 119. Laake, K.; Jansen, L.; Hahnemann, J. M.; Brondum-Nielsen, K.; Lonnqvist, T.; Kaariainen, H.; Sankila, R.; Lahdesmaki, A.; Hammarstrom, L.; Yuen, J.; Tretli, S.; Heiberg, A.; Olsen, J. H.; Tucker, M.; Kleinerman, R.; Borresen-Dale, A.-L.: Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia. Hum. Mutat. 16: 232-246, 2000. 120. Laake, K.; Telatar, M.; Geitvik, G. A.; Hansen, R. O.; Heiberg, A.; Andresen, A. M.; Gatti, R.; Borresen-Dale, A.-L.: Identical mutation in 55% of the ATM alleles in 11 Norwegian AT families: evidence for a founder effect. Europ. J. Hum. Genet. 6: 235-244, 1998. 121. Lambert, C.; Schultz, R. A.; Smith, M.; Wagner-McPherson, C.; McDaniel, L. D.; Donlon, T.; Stanbridge, E. J.; Friedberg, E. C.: Functional complementation of ataxia-telangiectasia group D (AT-D) cells by microcell-mediated chromosome transfer and mapping of the AT-D locus to the region 11q22-23. Proc. Nat. Acad. Sci. 88: 5907-5911, 1991. 122. Levin, S.; Perlov, S.: Ataxia-telangiectasia in Israel, with observations on its relationship to malignant disease. Israel J. Med. Sci. 7: 1535-1541, 1971. 123. Li, A.; Swift, M.: Mutations at the ataxiatelangiectasia locus and clinical phenotypes of A-T patients. Am. J. Med. Genet. 92: 170-177, 2000. 124. Li, S.; Ting, N. S. Y.; Zheng, L.; Chen, P.-L.; Ziv, Y.; Shiloh, Y.; Lee, E. Y.-H. P.; Lee, W.-H.: Functional link of BRCA1 and ataxia telangiectasia gene product in DNA damage response. Nature 406: 210-215, 2000. 125. Lim, D.-S.; Kim, S.-T.; Xu, B.; Maser, R. S.; Lin, J.; Petrini, J. H. J.; Kastan, M. B.: ATM phosphorylates p95/nbs1 in an S-phase checkpoint pathway. Nature 404: 613-617, 2000. 126. Lim, D.-S.; Kirsch, D. G.; Canman, C. E.; Ahn, J.-H.; Ziv, Y.; Newman, L. S.; Darnell, R. B.; Shiloh, Y.; Kastan, M. B.: ATM binds to beta-adaptin in cytoplasmic vesicles. Proc. Nat. Acad. Sci. 95: 10146-10151, 1998. 127. Lipkowitz, S.; Garry, V. F.; Kirsch, I. R.: Interlocus V-J recombination measures genomic instability in agriculture workers at risk for lymphoid malignancies. Proc. Nat. Acad. Sci. 89: 5301-5305, 1992. 128. Lipkowitz, S.; Stern, M.-H.; Kirsch, I. R.: Hybrid T cell receptor genes formed by interlocus recombination in normal and ataxia-telangiectasia lymphocytes. J. Exp. Med. 172: 409-418, 1990. 129. Lisker, R.; Cobo, A.: Chromosome breakage in ataxia-telangiectasia. (Letter) Lancet I: 618, 1970. 130. Littlefield, L. G.; Colyer, S. P.; Joiner, E. E.; DuFrain, R. J.; Frome, E.; Cohen, M. M.: Chromosomal radiation sensitivity in ataxia telangiectasia long-term lymphoblastoid cell lines. Cytogenet. Cell Genet. 31: 203-213, 1981. 131. Llerena, J., Jr.; Murer-Orlando, M.; McGuire, M.; Zahed, L.; Sheridan, R. J.; Berry, A. C.; Bobrow, M.: Spontaneous and induced chromosome breakage in chorionic villus samples: a cytogenetic approach to first trimester prenatal diagnosis of ataxia telangiectasia syndrome. J. Med. Genet. 26: 174-178, 1989. 132. Maserati, E.; Ottolini, A.; Veggiotti, P.; Lanzi, G.; Pasquali, F.: Ataxia-without-telangiectasia in two sisters with rearrangements of chromosomes 7 and 14. Clin. Genet. 34: 283-287, 1988. 133. Matsuda, Y.; Imai, T.; Shiomi, T.; Saito, T.; Yamauchi, M.; Fukao, T.; Akao, Y.; Seki, N.; Ito, H.; Hori, T.: Comparative genome mapping of the ataxiatelangiectasia region in mouse, rat, and Syrian hamster. Genomics 34: 347-352, 1996. 134. McCaw, B. K.; Hecht, F.; Harden, D. G.; Teplitz, R. L.: Somatic rearrangement of chromosome 14 in human lymphocytes. Proc. Nat. Acad. Sci. 72: 2071-2075, 1975. 135. McConville, C. M.; Formstone, C. J.; Hernandez, D.; Thick, J.; Taylor, A. M.: Fine mapping of the chromosome 11q22-23 region using PFGE, linkage and haplotype analysis; localization of the gene for ataxia telangiectasia to a 5cM region flanked by NCAM/DRD2 and STMY/CJ52.75, phi 2.22. Nucleic Acids Res. 18: 4335-4343, 1990. 136. McConville, C. M.; Stankovic, T.; Byrd, P. J.; McGuire, G. M.; Yao, Q.-Y.; Lennox, G. G.; Taylor, A. M. R.: Mutations associated with variant phenotypes in ataxia-telangiectasia. Am. J. Hum. Genet. 59: 320-330, 1996. 137. McConville, C. M.; Woods, C. G.; Farrall, M.; Metcalfe, J. A.; Taylor, A. M. R.: Analysis of 7 polymorphic markers at chromosome 11q22-23 in 35 ataxia telangiectasia families; further evidence of linkage. Hum. Genet. 85: 215-220, 1990. 138. McFarlin, D. E.; Strober, W.; Waldmann, T. A.: Ataxia-telangiectasia. Medicine 51: 281-314, 1972. 139. McKusick, V. A.; Cross, H. E.: Ataxiatelangiectasia and Swiss-type agammaglobulinemia. Two genetic disorders of the immune mechanism in related Amish sibships. J.A.M.A. 195: 739-745, 1966. 140. Meyn, M. S.: High spontaneous intrachromosomal recombination rates in ataxia-telangiectasia. Science 260: 1327-1330, 1993. 141. Miller, M. E.; Chatten, J.: Ovarian changes in ataxia-telangiectasia. Acta Paediat. Scand. 56: 559-561, 1967. 142. Mohamed, R.; Singh, S. P.; Kumar, S.; Lavin, M. F.: A defect in DNA topoisomerase II activity in ataxia-telangiectasia cells. Biochem. Biophys. Res. Commun. 149: 233-238, 1987. 143. Morrell, D.; Chase, C. L.; Swift, M.: Cancers in 44 families with ataxia-telangiectasia. Cancer Genet. Cytogenet. 50: 119-123, 1990. 144. Morrow, D. M.; Tagle, D. A.; Shiloh, Y.; Collins, F. S.; Hieter, P.: TEL1, an S. cerevisiae homolog of the human gene mutated in ataxia telangiectasia, is functionally related to the yeast checkpoint gene MEC1. Cell 82: 831-840, 1995. 145. Murnane, J. P.; Painter, R. B.: Complementation of the effects in DNA synthesis in irradiated and unirradiated ataxia-telangiectasia cells. Proc. Nat. Acad. Sci. 79: 1960-1963, 1982. 146. Naito, T.; Matsuura, A.; Ishikawa, F.: Circular chromosome formation in a fission yeast mutant defective in two ATM homologues. Nature Genet. 20: 203-206, 1998. 147. Nguyen, T. D.; Boyd, J. B.; Green, M. M.: Sensitivity of Drosophila mutants to chemical carcinogens. Mutat. Res. 63: 67-77, 1979. 148. Oxelius, V.-A.; Berkel, A. I.; Hanson, L. A.: IgG2 deficiency in ataxia-telangiectasia. New Eng. J. Med. 306: 515-517, 1982. 149. Oxford, J. M.; Harnden, D. G.; Parrington, J. M.; Delhanty, J. D. A.: Specific chromosome aberrations in ataxiatelangiectasia. J. Med. Genet. 12: 251-262, 1975. 150. Pagani, F.; Buratti, E.; Stuani, C.; Bendix, R.; Dork, T.; Baralle, F. E.: A new type of mutation causes a splicing defect in ATM. Nature Genet. 30: 426-429, 2002. 151. Painter, R. B.; Cramer, P.; Howard, R.; Young, B. R.: Two forms of inhibition of DNA replicon initiation in human cells.In: Harris, C. C.; Cerutti, P. C.: Mechanisms of Chemical Carcinogenesis. New York: Alan R. Liss (pub.) 1982. Pp. 383-386. 152. Painter, R. B.; Young, B. R.: Radiosensitivity in ataxia-telangiectasia: a new explanation. Proc. Nat. Acad. Sci. 77: 7315-7317, 1980. 153. Paterson, M. C.; Smith, B. P.; Knight, P. A.; Anderson, A. K. : Ataxia telangiectasia: an inherited human disease involving radiosensitivity, malignancy and defective DNA repair.In: Castellani, A. (ed.): Research in Photobiology. New York: Plenum (pub.) 1977. Pp. 207-218. 154. Paterson, M. C.; Smith, B. P.; Lohman, P. H. M.; Anderson, A. K.; Fishman, L.: Defective excision repair of gamma-ray-damaged DNA in human (ataxia-telangiectasia) fibroblasts. Nature 260: 444-447, 1976. 155. Paterson, M. C.; Smith, P. J.: Ataxia telangiectasia: an inherited human disorder involving hypersensitivity to ionizing radiation and related DNA-damaging chemicals. Ann. Rev. Genet. 13: 291-318, 1979. 156. Paulovich, A. G.; Hartwell, L. H.: A checkpoint regulates the rate of progression through S phase in S. cerevisiae in response to DNA damage. Cell 82: 841-847, 1995. 157. Pecker, I.; Avraham, K. B.; Gilbert, D. J.; Savitsky, K.; Rotman, G.; Harnik, R.; Fukao, T.; Schrock, E.; Hirotsune, S.; Tagle, D. A.; Collins, F. S.; Wynshaw-Boris, A.; Ried, T.; Copeland, N. G.; Jenkins, N. A.; Shiloh, Y.; Ziv, Y.: Identification and chromosomal localization of Atm, the mouse homolog of the ataxia-telangiectasia gene. Genomics 35: 39-45, 1996. 158. Peterson, R. D. A.; Funkhouser, J. D.: Speculations on ataxia-telangiectasia: defective regulation of the immunoglobulin gene superfamily. Immun. Today 10: 313-315, 1989. 159. Peterson, R. D. A.; Funkhouser, J. D.: Ataxia-telangiectasia: an important clue. (Editorial) New Eng. J. Med. 322: 124-125, 1990. 160. Peterson, R. D. A.; Kelly, W. D.; Good, R. A.: Ataxia-telangiectasia: its association with a defective thymus, immunological-deficiency disease and malignancy. Lancet I: 1189-1193, 1964. 161. Pippard, E. C.; Hall, A. J.; Barker, D. J. P.; Bridges, B. A. : Cancer in homozygotes and heterozygotes of ataxia-telangiectasia and xeroderma pigmentosum in Britain. Cancer Res. 48: 2929-2932, 1988. 162. Rary, J. M.; Bender, M. A.; Kelly, T. E.: A 14/14 marker chromosome lymphocyte clone in ataxia telangiectasis. J. Hered. 66: 33-35, 1975. 163. Rary, J. M.; Bender, M. A.; Kelly, T. E.: Cytogenetic studies of ataxia-telangiectasia. (Abstract) Am. J. Hum. Genet. 26: 70, 1974. 164. Reye, C.; Mosman, N. S. W.: Ataxia-telangiectasia. Am. J. Dis. Child. 99: 238-247, 1960. 165. Richkind, K. E.; Boder, E.; Teplitz, R. L.: Fetal proteins in ataxia-telangiectasia. J.A.M.A. 248: 1346-1347, 1982. 166. Rosen, F. S.; Harris, N. L.: Case records of the Massachusetts General Hospital: a 30-year-old man with ataxia-telangiectasia and dysphagia. New Eng. J. Med. 316: 91-100, 1987. 167. Rosin, M. P.; Ochs, H. D.: In vivo chromosomal instability in ataxia-telangiectasia homozygotes and heterozygotes. Hum. Genet. 74: 335-340, 1986. 168. Rosin, M. P.; Ochs, H. D.; Gatti, R. A.; Boder, E.: Heterogeneity of chromosomal breakage levels in epithelial tissue of ataxia-telangiectasia homozygotes and heterozygotes. Hum. Genet. 83: 133-138, 1989. 169. Russo, G.; Isobe, M.; Gatti, R.; Finan, J.; Batuman, O.; Huebner, K.; Nowell, P. C.; Croce, C. M.: Molecular analysis of a t(14;14) translocation in leukemic T-cells of an ataxia telangiectasia patient. Proc. Nat. Acad. Sci. 86: 602-606, 1989. 170. Sanal, O.; Lange, E.; Telatar, M.; Sobel, E.; Salazar-Novak, J.; Ersoy, F.; Morrison, A.; Concannon, P.; Tolun, A.; Gatti, R. A. : Ataxiatelangiectasia: linkage analysis of chromosome 11q22-23 markers in Turkish families. FASEB J. 6: 2848-2852, 1992. 171. Sanal, O.; Wei, S.; Foroud, T.; Malhotra, U.; Concannon, P.; Charmley, P.; Salser, W.; Lange, K.; Gatti, R. A.: Further mapping of an ataxia-telangiectasia locus to the chromosome 11q23 region. Am. J. Hum. Genet. 47: 860-866, 1990. 172. Sandoval, N.; Platzer, M.; Rosenthal, A.; Dork, T.; Bendix, R.; Skawran, B.; Stuhrmann, M.; Wegner, R.-D.; Sperling, K.; Banin, S.; Shiloh, Y.; Baumer, A.; Bernthaler, U.; Sennefelder, H.; Brohm, M.; Weber, B. H. F.; Schindler, D.: Characterization of ATM gene mutations in 66 ataxia telangiectasia families. Hum. Molec. Genet. 8: 69-79, 1999. 173. Sasaki, T.; Tian, H.; Kukita, Y.; Inazuka, M.; Tahira, T.; Imai, T.; Yamauchi, M.; Saito, T.; Hori, T.; Hashimoto-Tamaoki, T.; Komatsu, K.; Nikaido, O.; Hayashi, K.: ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy. Hum. Mutat. 12: 186-195, 1998. 174. Savitsky, K.; Bar-Shira, A.; Gilad, S.; Rotman, G.; Ziv, Y.; Vanagaite, L.; Tagle, D. A.; Smith, S.; Uziel, T.; Sfez, S.; Ashkenazi, M.; Pecker, I.; and 18 others: A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 268: 1749-1753, 1995. 175. Savitsky, K.; Sfez, S.; Tagle, D. A.; Ziv, Y.; Sartiel, A.; Collins, F. S.; Shiloh, Y.; Rotman, G.: The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species. Hum. Molec. Genet. 4: 2025-2032, 1995. 176. Saxon, A.; Stevens, R. H.; Golde, D. W.: Helper and suppressor T-lymphocyte leukemia in ataxiatelangiectasia. New Eng. J. Med. 300: 700-704, 1979. 177. Schaffner, C.; Idler, I.; Stilgenbauer, S.; Dohner, H.; Lichter, P.: Mantle cell lymphoma is characterized by inactivation of the ATM gene. Proc. Nat. Acad. Sci. 97: 2773-2778, 2000. 178. Schaffner, C.; Stilgenbauer, S.; Rappold, G. A.; Dohner, H.; Lichter, P.: Somatic ATM mutations indicate a pathogenic role of ATM in B-cell chronic lymphocytic leukemia. Blood 94: 748-753, 1999. 179. Schalch, D. S.; McFarlin, D. E.; Barlow, M. H.: An unusual form of diabetes mellitus in ataxia-telangiectasia. New Eng. J. Med. 282: 1396-1402, 1970. 180. Scheres, J. M. J. C.; Hustinx, T. W. J.; Weemaes, C. M. R.: Chromosome 7 in ataxia-telangiectasia. J. Pediat. 97: 440-441, 1980. 181. Scott, S. P.; Bendix, R.; Chen, P.; Clark, R.; Dork, T.; Lavin, M. F.: Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer. Proc. Nat. Acad. Sci. 99: 925-930, 2002. 182. Sedgwick, R. P.; Boder, E.: Ataxiatelangiectasia. In: Vinken, P. J.; Bruyn, G. W. (eds.): Handbook of Clinical Neurology. Amsterdam: North-Holland Publishing Co. (pub.) 14: 1972. Pp. 267-339. 183. Shaham, M.; Becker, Y.: The ataxia telangiectasia clastogenic factor is a low molecular weight peptide. Hum. Genet. 58: 422-424, 1981. 184. Shiloh, Y.; Parshad, R.; Frydman, M.; Sanford, K. K.; Portnoi, S.; Ziv, Y.; Jones, G. M.: G(2) chromosomal radiosensitivity in families with ataxia-telangiectasia. Hum. Genet. 84: 15-18, 1989. 185. Shultz, L. D.; Sweet, H. O.; Davisson, M. T.; Coman, D. R.: 'Wasted,' a new mutant of the mouse with abnormalities characteristic of ataxia telangiectasia. Nature 297: 402-404, 1982. 186. Shuster, J.; Hart, Z.; Stimson, C. W.; Brough, A. J.; Poulik, M. D.: Ataxia-telangiectasia with cerebellar tumor. Pediatrics 37: 776-786, 1966. 187. Sobel, E.; Lange, E.; Jaspers, N. G. J.; Chessa, L.; Sanal, O.; Shiloh, Y.; Taylor, A. M. R.; Weemaes, C. M. A.; Lange, K.; Gatti, R. A.: Ataxia-telangiectasia: linkage evidence for genetic heterogeneity. (Letter) Am. J. Hum. Genet. 50: 1343-1348, 1992. 188. Sourander, P.; Bonnevier, J. O.; Olsson, Y.: A case of ataxia-telangiectasia with lesions in the spinal cord. Acta Neurol. Scand. 42: 354-366, 1966. 189. Spring, K.; Ahangari, F.; Scott, S. P.; Waring, P.; Purdie, D. M.; Chen, P. C.; Hourigan, K.; Ramsay, J.; McKinnon, P. J.; Swift, M.; Lavin, M. F.: Mice heterozygous for mutation in Atm, the gene involved in ataxia-telangiectasia, have heightened susceptibility to cancer. Nature Genet. 32: 185-190, 2002. 190. Stankovic, T.; Kidd, A. M. J.; Sutcliffe, A.; McGuire, G. M.; Robinson, P.; Weber, P.; Bedenham, T.; Bradwell, A. R.; Easton, D. F.; Lennox, G. G.; Haites, N.; Byrd, P. J.; Taylor, A. M. R.: ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer. Am. J. Hum. Genet. 62: 334-345, 1998. 191. Stern, M.-H.; Zhang, F.; Griscelli, C.; Thomas, G.; Aurias, A. : Molecular characterization of different ataxia telangiectasia T-cell clones. I. A common breakpoint at the 14q11.2 band splits the T-cell receptor alpha-chain gene. Hum. Genet. 78: 33-36, 1988. 192. Stern, M.-H.; Zhang, F.; Thomas, G.; Griscelli, C.; Aurias, A. : Molecular characterization of ataxia telangiectasia T cell clones. III. Mapping the 14q32.1 distal breakpoint. Hum. Genet. 81: 18-22, 1988. 193. Stewart, G. S.; Maser, R. S.; Stankovic, T.; Bressan, D. A.; Kaplan, M. I.; Jaspers, N. G. J.; Raams, A.; Byrd, P. J.; Petrini, J. H. J.; Taylor, A. M. R.: The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxiatelangiectasia-like disorder. Cell 99: 577-587, 1999. 194. Stilgenbauer, S.; Schaffner, C.; Litterst, A.; Liebisch, P.; Gilad, S.; Bar-Shira, A.; James, M. R.; Lichter, P.; Dohner, H.: Biallelic mutations in the ATM gene in T-prolymphocytic leukemia. Nature Med. 3: 1155-1159, 1997. 195. Stilgenbauer, S.; Winkler, D.; Ott, G.; Schaffner, C.; Leupolt, E.; Bentz, M.; Moller, P.; Muller-Hermelink, H.-K.; James, M. R.; Lichter, P.; Dohner, H.: Molecular characterization of 11q deletions points to a pathogenic role of the ATM gene in mantle cell lymphoma. Blood 94: 3262-3264, 1999. 196. Sugimoto, T.; Kidowaki, T.; Sawada, T.; Ohtsuka-Urano, T.; Kusunoki, T.: Ataxia-telangiectasia associated with non-T, non-B cell acute lymphocytic leukemia. Acta Paediat. Scand. 71: 509-510, 1982. 197. Swift, M.: Cancer risk counseling. (Letter) Science 210: 1074, 1980. 198. Swift, M.; Morrell, D.; Cromartie, E.; Chamberlin, A. R.; Skolnick, M. H.; Bishop, D. T.: The incidence and gene frequency of ataxia-telangiectasia in the United States. Am. J. Hum. Genet. 39: 573-583, 1986. 199. Swift, M.; Morrell, D.; Massey, R. B.; Chase, C. L.: Incidence of cancer in 161 families affected by ataxia-telangiectasia. New Eng. J. Med. 325: 1831-1836, 1991. 200. Swift, M.; Reitnauer, P. J.; Morrell, D.; Chase, C. L.: Breast and other cancers in families with ataxia-telangiectasia. New Eng. J. Med. 316: 1289-1294, 1987. 201. Swift, M. R.; Sholman, L.; Perry, M.; Chase, C.: Malignant neoplasms in the families of patients with ataxia-telangiectasia. Cancer Res. 36: 209-215, 1976. 202. Tadjoedin, M. K.; Fraser, F. C.: Heredity of ataxia-telangiectasia (Louis-Bar syndrome). Am. J. Dis. Child. 110: 64-68, 1965. 203. Taniguchi, T.; Garcia-Higuera, I.; Xu, B.; Andreassen, P. R.; Gregory, R. C.; Kim, S.-T.; Lane, W. S.; Kastan, M. B.; D'Andrea, A. D.: Convergence of the Fanconi anemia and ataxia telangiectasia signaling pathways. Cell 109: 459-472, 2002. 204. Taylor, A. M. R.; Flude, E.; Laher, B.; Stacey, M.; McKay, E.; Watt, J.; Green, S. H.; Harding, A. E.: Variant forms of ataxia telangiectasia. J. Med. Genet. 24: 669-677, 1987. 205. Taylor, A. M. R.; Harnden, D. G.; Arlett, C. F.; Harcourt, S. A.; Lehmann, A. R.; Stevens, S.; Bridges, B. A.: Ataxiatelangiectasia: a human mutation with abnormal radiation sensitivity. Nature 258: 427-429, 1975. 206. Taylor, A. M. R.; Metcalfe, J. A.; Oxford, J. M.; Harnden, D. G.: Is chromatid-type damage in ataxiatelangiectasia after irradiation at G(0) a consequence of defective repair? Nature 260: 441-443, 1976. 207. Tchirkov, A.; Bay, J.-O.; Pernin, D.; Bignon, Y.-J. Rio, P.; Grancho, M.; Kwiatkowski, F.; Giollant, M.; Malet, P.; Verrelle, P. : Detection of heterozygous carriers of the ataxia-telangiectasia (ATM) gene by G(2) phase chromosomal radiosensitivity of peripheral blood lymphocytes. Hum. Genet. 101: 312-316, 1997. 208. Telatar, M.; Teraoka, S.; Wang, Z.; Chun, H. H.; Liang, T.; Castellvi-Bel, S.; Udar, N.; Borresen-Dale, A.-L.; Chessa, L.; Bernatowska-Matuskiewicz, E.; Porras, O.; Watanabe, M.; Junker, A.; Concannon, P.; Gatti, R. A.: Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. Am. J. Hum. Genet. 62: 86-97, 1998. 209. Telatar, M.; Wang, Z.; Castellvi-Bel, S.; Tai, L.-Q.; Sheikhavandi, S.; Regueiro, J. R.; Porras, O.; Gatti, R. A.: A model for ATM heterozygote identification in a large population: four founder-effect ATM mutations identify most of Costa Rican patients with ataxia telangiectasia. Molec. Genet. Metab. 64: 36-43, 1998. 210. Teplitz, R. L.: Ataxia-telangiectasia. Arch. Neurol. 35: 553-554, 1978. 211. Teraoka, S. N.; Telatar, M.; Becker-Catania, S.; Liang, T.; Onengut, S.; Tolun, A.; Chessa, L.; Sanal, O.; Bernatowska, E.; Gatti, R. A.; Concannon, P.: Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. Am. J. Hum. Genet. 64: 1617-1631, 1999. 212. Thibaut, S.; Sass, U.; Khoury, A.; Simonart, J.-M.: Ataxia-telangiectasia and necrobiosis lipoidica: an explainable association. Europ. J. Derm. 4: 509-513, 1994. 213. Toledano, S. R.; Lang, B. J.: Ataxia-telangiectasia and acute lymphoblastic leukemia. Cancer 45: 1675-1678, 1980. 214. Toyoshima, M.; Hara, T.; Zhang, H.; Yamamoto, T.; Akaboshi, S.; Nanba, E.; Ohno, K.; Hori, N.; Sato, K.; Takeshita, K.: Ataxia-telangiectasia without immunodeficiency: novel point mutations within and adjacent to the phosphatidylinositol 3-kinase-like domain. Am. J. Med. Genet. 75: 141-144, 1998. 215. Tse, A. G. D.; Barclay, A. N.; Watts, A.; Williams, A. F.: A glycophospholipid tail at the carboxyl terminus of the Thy-1 glycoprotein of neurons and thymocytes. Science 230: 1003-1008, 1985. 216. Uziel, T.; Savitsky, K.; Platzer, M.; Ziv, Y.; Helbitz, T.; Nehls, M.; Boehm, T.; Rosenthal, A.; Shiloh, Y.; Rotman, G.: Genomic organization of the ATM gene. Genomics 33: 317-320, 1996. 217. van Belzen, M. J.; Hiel, J. A. P.; Weemaes, C. M. R.; Gabreels, F. J. M.; van Engelen, B. G. M.; Smeets, D. F. C. M.; van den Heuvel, L. P. W. J.: A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia. Hum. Genet. 102: 187-191, 1998. 218. Vincent, R. A., Jr.; Sheridan, R. B., III; Huang, P. C.: DNA strand breakage repair in ataxiatelangiectasia fibroblast-like cells. Mutat. Res. 33: 357-366, 1975. 219. Vorechovsky, I.; Luo, L.; Dyer, M. J. S.; Catovsky, D.; Amlot, P. L.; Yaxley, J. C.; Foroni, L.; Hammarstrom, L.; Webster, A. D. B.; Yuille, M. A. R.: Clustering of missense mutations in the ataxia-telangiectasia gene in a sporadic T-cell leukaemia. Nature Genet. 17: 96-99, 1997. 220. Vorechovsky, I.; Luo, L.; Lindblom, A.; Negrini, M.; Webster, A. D.; Croce, C. M.; Hammarstrom, L.: ATM mutations in cancer families. Cancer Res. 56: 4130-4133, 1996. 221. Waldmann, T. A.; McIntire, K. R.: Serum-alpha-fetoprotein levels in patients with ataxia-telangiectasia. Lancet II: 1112-1115, 1972. 222. Waldmann, T. A.; Misiti, J.; Nelson, D. L.; Kraemer, K. H.: Ataxia-telangiectasia: a multisystem hereditary disease with immunodeficiency, impaired organ maturation, x-ray hypersensitivity, and a high incidence of neoplasia. Ann. Intern. Med. 99: 367-379, 1983. 223. Wang, Y.; Cortez, D.; Yazdi, P.; Neff, N.; Elledge, S. J.; Qin, J.: BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures. Genes Dev. 14: 927-939, 2000. 224. Wang, Y. A.; Elson, A.; Leder, P.: Loss of p21 increases sensitivity to ionizing radiation and delays the onset of lymphoma in atm-deficient mice. Proc. Nat. Acad. Sci. 94: 14590-14595, 1997. 225. Watanabe, A.; Hanazono, H.; Sogawa, H.; Takaya, H.: Stomach cancer in a 14-year-old-boy with ataxia-telangiectasia. Tohoku J. Exp. Med. 121: 127-131, 1977. 226. Waterman, M. J. F.; Stavridi, E. S.; Waterman, J. L. F.; Halazonetis, T. D.: ATM-dependent activation of p53 involves dephosphorylation and association with 14-3-3 proteins. Nature Genet. 19: 175-178, 1998. 227. Watts, J. A.; Morley, M.; Burdick, J. T.; Fiori, J. L.; Ewens, W. J.; Spielman, R. S.; Cheung, V. G.: Gene expression phenotype in heterozygous carriers of ataxia telangiectasia. Am. J. Hum. Genet. 71: 791-800, 2002. 228. Weinstein, S.; Scottolini, A. G.; Loo, S. Y. T.; Caldwell, P. C.; Bhagavan, N. V.: Ataxia telangiectasia with hepatocellular carcinoma in a 15-year-old girl and studies of her kindred. Arch. Path. Lab. Med. 109: 1000-1004, 1985. 229. Welshimer, K.; Swift, M.: Congenital malformations and developmental disabilities in ataxia-telangiectasia, Fanconi anemia, and xeroderma pigmentosum families. Am. J. Hum. Genet. 34: 781-793, 1982. 230. Westphal, C. H.; Rowan, S.; Schmaltz, C.; Elson, A.; Fisher, D. E.; Leder, P.: atm and p53 cooperate in apoptosis and suppression of tumorigenesis, but not in resistance to acute radiation toxicity. Nature Genet. 16: 397-401, 1997. 231. Woods, C. G.; Bundey, S. E.; Taylor, A. M. R.: Unusual features in the inheritance of ataxia telangiectasia. Hum. Genet. 84: 555-562, 1990. 232. Woods, C. G.; Taylor, A. M. R.: Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals. Quart. J. Med. 82: 169-179, 1992. 233. Wooster, R.; Ford, D.; Mangion, J.; Ponder, B. A. J.; Peto, J.; Easton, D. F.; Stratton, M. R.: Absence of linkage to the ataxia telangiectasia locus in familial breast cancer. Hum. Genet. 92: 91-94, 1993. 234. Worgul, B. V.; Smilenov, L.; Brenner, D. J.; Junk, A.; Zhou, W.; Hall, E. J.: Atm heterozygous mice are more sensitive to radiation-induced cataracts than are their wild-type counterparts. Proc. Nat. Acad. Sci. 99: 9836-9839, 2002. 235. Wright, J.; Teraoka, S.; Onengut, S.; Tolun, A.; Gatti, R. A.; Ochs, H. D.; Concannon, P.: A high frequency of distinct ATM gene mutations in ataxia-telangiectasia. Am. J. Hum. Genet. 59: 839-846, 1996. 236. Wu, X.; Ranganathan, V.; Weisman, D. S.; Heine, W. F.; Ciccone, D. N.; O'Neill, T. B.; Crick, K. E.; Pierce, K. A.; Lane, W. S.; Rathbun, G.; Livingston, D. M.; Weaver, D. T.: ATM phosphorylation of Nijmegen breakage syndrome protein is required in a DNA damage response. Nature 405: 477-482, 2000. 237. Xia, Y.-R.; Welch, C. L.; Warden, C. H.; Lange, E.; Fukao, T.; Lusis, A. J.; Gatti, R. A.: Assignment of the mouse ataxia-telangiectasia gene (Atm) to mouse chromosome 9. Mammalian Genome 7: 554-555, 1996. 238. Xu, Y.; Ashley, T; Brainerd, E. E.; Bronson, R. T.; Meyn, M. S.; Baltimore, D.: Targeted disruption of ATM leads to growth retardation, chromosomal fragmentation during meiosis, immune defects, and thymic lymphoma. Genes Dev. 10: 2411-2422, 1996. 239. Xu, Y.; Baltimore, D.: Dual roles of ATM in the cellular response to radiation and in cell growth control. Genes Dev. 10: 2401-2410, 1996. 240. Ying, K. L.; Decoteau, W. E.: Cytogenetic anomalies in a patient with ataxia, immune deficiency, and high alpha-fetoprotein in the absence of telangiectasia. Cancer Genet. Cytogenet. 4: 311-317, 1981. 241. Yount, W. J.: IgG2 deficiency and ataxia-telangiectasia. (Editorial) New Eng. J. Med. 306: 541-543, 1982. 242. Zadik, Z.; Levin, S.; Prager-Lewin, R.; Laron, Z.: Gonadal dysfunction in patients with ataxia telangiectasia. Acta Paediat. Scand. 67: 477-479, 1978. 243. Zakian, V. A.: ATM-related genes: what do they tell us about functions of the human gene? Cell 82: 685-687, 1995. 244. Zhang, F.; Stern, M.-H.; Thomas, G.; Aurias, A.: Molecular characterization of ataxia telangiectasia T cell clones. II. The clonal inv(14) in ataxia telangiectasia differs from the inv(14) in T cell lymphoma. Hum. Genet. 78: 316-319, 1988. 245. Zhang, N.; Chen, P.; Khanna, K. K.; Scott, S.; Gatei, M.; Kozlov, S.; Watters, D.; Spring, K.; Yen, T.; Lavin, M. F.: Isolation of full-length ATM cDNA and correction of the ataxia-telangiectasia cellular phenotype. Proc. Nat. Acad. Sci. 94: 8021-8026, 1997. 246. Zhao, S.; Weng, Y.-C.; Yuan, S.-S. F.; Lin, Y.-T.; Hsu, H.-C.; Lin, S.-C. J.; Gerbino, E.; Song, M.; Zdzienicka, M. Z.; Gatti, R. A.; Shay, J. W.; Ziv, Y.; Shiloh, Y.; Lee, E. Y.-H. P.: Functional link between ataxia-telangiectasia and Nijmegen breakage syndrome gene products. Nature 405: 473-477, 2000. 247. Ziv, Y.; Amiel, A.; Jaspers, N. G. J.; Berkel, A. I.; Shiloh, Y.: Ataxia-telangiectasia: a variant with altered in vitro phenotype of fibroblast cells. Mutat. Res. 210: 211-219, 1989. 248. Ziv, Y.; Frydman, M.; Lange, E.; Zelnik, N.; Rotman, G.; Julier, C.; Jaspers, N. G. J.; Dagan, Y.; Abeliovicz, D.; Dar, H.; Borochowitz, Z.; Lathrop, M.; Gatti, R. A.; Shiloh, Y.: Ataxia-telangiectasia: linkage analysis in highly inbred Arab and Druze families and differentiation from an ataxia-microcephaly-cataract syndrome. Hum. Genet. 88: 619-626, 1992. 249. Ziv, Y.; Rotman, G.; Frydman, M.; Dagan, J.; Cohen, T.; Foroud, T.; Gatti, R. A.; Shiloh, Y.: The ATC (ataxia-telangiectasia complementation group C) locus localizes to 11q22-q23. Genomics 9: 373-375, 1991.
[0029319]19907.Date, H.; Onodera, O.; Tanaka, H.; Iwabuchi, K.; Uekawa, K.; Igarashi, S.; Koike, R.; Hiroi, T.; Yuasa, T.; Awaya, Y.; Sakai, T.; and 9 others: Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene. Nature Genet. 29: 184-188, 2001.
[0029320]19908.Moreira, M.-C.; Barbot, C.; Tachi, N.; Kozuka, N.; Uchida, E.; Gibson, T.; Mendonca, P.; Costa, M.; Barros, J.; Yanagisawa, T.; Watanabe, M.; Ikeda, Y.; Aoki, M.; Nagata, T.; Coutinho, P.; Sequeiros, J.; Koenig, M.: The gene mutated in ataxia-oculomotor apraxia 1 encodes the new HIT/Znfinger protein aprataxin. Nature Genet. 29: 189-193, 2001.
[0029321]19909.Shelley, W. B.; Rawnsley, H. M.; Morrow, G., III: Pyridoxine-dependent hair pigmentation in association with homocystinuria. Arch. Derm. 106: 228-230, 1972. 100. Shih, V. E.; Efron, M. L.: Pyridoxine-unresponsive homocystinuria. New Eng. J. Med. 283: 1206-1208, 1970. 101. Shih, V. E.; Fringer, J. M.; Mandell, R.; Kraus, J. P.; Berry, G. T.; Heidenreich, R. A.; Korson, M. S.; Levy, H. L.; Ramesh, V. : A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype. Am. J. Hum. Genet. 57: 34-39, 1995. 102. Shipman, R. T.; Townley, R. R. W.; Danks, D. M.: Homocystinuria, Addisonian pernicious anaemia, and partial deletion of a G chromosome. Lancet II: 693-694, 1969. 103. Skovby, F.: Homocystinuria: clinical, biochemical and genetic aspects of cystathionine beta-synthase and its deficiency in man. Acta Paediat. Scand. 321 (suppl.): 1-21, 1985. 104. Skovby, F.; Krassikoff, N.; Francke, U.: Assignment of the gene for cystathionine beta-synthase to human chromosome 21 in somatic cell hybrids. Hum. Genet. 65: 291-294, 1984. 105. Skovby, F.; Krassikoff, N.; Francke, U.: Assignment of the gene for cystathionine beta-synthase (CBS) to human chromosome 21 in somatic cell hybrids. (Abstract) Cytogenet. Cell Genet. 37: 585 only, 1984. 106. Skovby, F.; Kraus, J.; Redlich, C.; Rosenberg, L. E.: Immunochemical studies on cultured fibroblasts from patients with homocystinuria due to cystathionine beta-synthase deficiency. Am. J. Hum. Genet. 34: 73-83, 1982. 107. Skovby, F.; Kraus, J. P.; Rosenberg, L. E.: Homocystinuria: biogenesis of cystathionine beta-synthase subunits in cultured fibroblasts and in an in vitro translation system programmed with fibroblast messenger RNA. Am. J. Hum. Genet. 36: 452-459, 1984. 108. Spaeth, G. L.; Barber, G. W.: Prevalence of homocystinuria among the mentally retarded: evaluation of a specific screening test. Pediatrics 40: 586-589, 1967. 109. Sperandeo, M. P.; de Franchis, R.; Andria, G.; Sebastio, G.: A 68-bp insertion found in a homocystinuric patient is a common variant and is skipped by alternative splicing of the cystathionine beta-synthase mRNA. (Letter) Am. J. Hum. Genet. 59: 1391-1393, 1996. 110. Sperandeo, M. P.; Panico, M.; Pepe, A.; Candito, M.; de Franchis, R.; Kraus, J. P.; Andria, G.; Sebastio, G.: Molecular analysis of patients affected by homocystinuria due to cystathionine beta-synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11. J. Inherit. Metab. Dis. 18: 211-214, 1995. 111. Streeten, B. W.: The nature of the ocular zonule. Trans. Am. Ophthal. Soc. 80: 823-854, 1982. 112. Stubbs, L.; Kraus, J.; Lehrach, H.: The alpha-A-crystallin and cystathionine beta-synthase genes are physically very closely linked in proximal mouse chromosome 17. Genomics 7: 284-288, 1990. 113. Tada, K.; Yoshida, T.; Hirono, H.; Arakawa, T.: Homocystinuria: amino acid pattern of the liver. Tohoku J. Exp. Med. 92: 325-332, 1967. 114. Tsai, M. Y.; Bignell, M.; Schwichtenberg, K.; Hanson, N. Q.: High prevalence of a mutation in the cystathionine beta-synthase gene. Am. J. Hum. Genet. 59: 1262-1267, 1996. 115. Uhlemann, E. R.; TenPas, J. H.; Lucky, A. W.; Schulman, J. D.; Mudd, S. H.; Shulman, N. R.: Platelet survival and morphology in homocystinuria due to cystathionine synthase deficiency. New Eng. J. Med. 295: 1283-1286, 1976. 116. Uhlendorf, B. W.; Mudd, S. H.: Cystathionine synthase in tissue culture derived from human skin: enzyme defect in homocystinuria. Science 160: 1007-1009, 1968. 117. Visy, J. M.; Le Coz, P.; Chadefaux, B.; Fressinaud, C.; Woimant, F.; Marquet, J.; Zittoun, J.; Visy, J.; Vallat, J. M.; Haguenau, M. : Homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency revealed by stroke in adult siblings. Neurology 41: 1313-1315, 1991. 118. Wadman, S. K.; Cats, B. P.; de Bree, P. K.: Sulfite oxidase deficiency and the detection of urinary sulfite. (Letter) Europ. J. Pediat. 141: 62-63, 1983. 119. Watanabe, M.; Osada, J.; Aratani, Y.; Kluckman, K.; Reddick, R.; Malinow, M. R.; Maeda, N.: Mice deficient in cystathionine beta-synthase: animal models for mild and severe homocyst(e)inemia. Proc. Nat. Acad. Sci. 92: 1585-1589, 1995. 120. Wilcken, D. E.; Wilcken, B.: The pathogenesis of coronary artery disease: a possible role for methionine metabolism. J. Clin. Invest. 57: 1079-1082, 1976. 121. Wilcken, D. E. L.; Dudman, N. P. B.; Tyrrell, P. A.: Homocystinuria due to cystathionine betasynthase deficiency--the effects of betaine treatment in pyridoxine-responsive patients. Metabolism 34: 1115-1121, 1985. 122. Wilcken, D. E. L.; Wilcken, B.; Dudman, N. P. B.; Tyrrell, P. A.: Homocystinuria--the effects of betaine in the treatment of patients not responsive to pyridoxine. New Eng. J. Med. 309: 448-453, 1983. 123. Wong, P. W. K.; Schwarz, V.; Komrower, G. M.: The biosynthesis of cystathionine in patients with homocystinuria. Pediat. Res. 2: 149-160, 1968. 124. Yaghmai, R.; Kashani, A. H.; Geraghty, M. T.; Okoh, J.; Pomper, M.; Tangerman, A.; Wagner, C.; Stabler, S. P.; Allen, R. H.; Mudd, S. H.; Braverman, N.: Progressive cerebral edema associated with high methionine levels and betaine therapy in a patient with cystathionine beta-synthase (CBS) deficiency. Am. J. Med. Genet. 108: 57-63, 2002. 125. Yap, S.; Naughten, E.: Homocystinuria due to cystathionine beta-synthase deficiency in Ireland: 25 years' experience of a newborn screened and treated population with reference to clinical outcome and biochemical control. J. Inherit. Metab. Dis. 21: 738-747, 1998. 126. Yap, S.; Rushe, H.; Howard, P. M.; Naughten, E. R.: The intellectual abilities of early-treated individuals with pyridoxine-nonresponsive homocystinuria due to cystathionine beta-synthase deficiency. J. Inherit. Metab. Dis. 24: 437-447, 2001.
[0029322]19910.Burchell, A.; Jung, R. T.; Lang, C. C.; Bennet, W.; Shepherd, A. N.: Diagnosis of type 1a and type 1c glycogen storage diseases in adults. Lancet I: 1059-1062, 1987.
[0029323]19911.Burchell, A.; Waddell, I. D.: Diagnosis of a novel glycogen storage disease: type 1aSP. J. Inherit. Metab. Dis. 13: 247-249, 1990.
[0029324]19912.Chen, Y.-T.; Coleman, R. A.; Scheinman, J. I.; Kolbeck, P. C.; Sidbury, J. B.: Renal disease in type I glycogen storage disease. New Eng. J. Med. 318: 7-11, 1988.
[0029325]19913.Chen, Y.-T.; Cornblath, M.; Sidbury, J. B.: Cornstarch therapy in type I glycogenstorage disease. New Eng. J. Med. 310: 171-175, 1984.
[0029326]19914.Chen, Y.-T.; Scheinman, J. I.; Park, H. K.; Coleman, R. A.; Roe, C. R.: Amelioration of proximal renal tubular dysfunction in type I glycogen storage disease with dietary therapy. New Eng. J. Med. 323: 590-593, 1990.
[0029327]19915.Chevalier-Porst, F.; Bozon, D.; Bonardot, A.-M.; Bruni, N.; Mithieux, G.; Mathieu, M.; Maire, I.: Mutation analysis in 24 French patients with glycogen storage disease type 1a. J. Med. Genet. 33: 358-360, 1996.
[0029328]19916.Chou, J. Y.: Personal Communication. Bethesda, Md. 11/4/1993.
[0029329]19917.Chou, J.Y.; Mansfield, B.C.: Molecular genetics of type 1 glycogen storage diseases. Trends Endocr. Metab. 10: 104-113, 1999.
[0029330]19918.Cohen, J. L.; Vinik, A.; Faller, J.; Fox, I. H.: Hyperuricemia in glycogen storage disease type I: contributions by hypoglycemia and hyperglucagonemia to increased urate production. J. Clin. Invest. 75: 251-257, 1985.
[0029331]19919.Cori, G. T.; Cori, C. F.: Glucose-6-phosphatase of the liver in glycogen storage disease. J. Biol. Chem. 199: 661-667, 1952.
[0029332]19920.Emmett, M.; Narins, R. G.: Renal transplantation in type I glycogenosis: failure to improve glucose metabolism. J.A.M.A. 239: 1642-1644, 1978.
[0029333]19921.Faivre, L.; Houssin, D.; Valayer, J.; Brouard, J.; Hadchouel, M.; Bernard, O.: Longterm outcome of liver transplantation in patients with glycogen storage disease type Ia. J. Inherit. Metab. Dis. 22: 723-732, 1999.
[0029334]19922.Fine, R. N.; Wilson, W. A.; Donnell, G. N.: Retinal changes in glycogen storage disease type I. Am. J. Dis. Child. 115: 328-331, 1968.
[0029335]19923.Fraumeni, J. F.; Rosen, P. J.; Hull, E. W.; Barth, R. F.; Shapiro, S. R.; O'Connor, J. F.: Hepatoblastoma in infant sisters. Cancer 24: 1086-1090, 1969.
[0029336]19924.Furukawa, N.; Kinugasa, A.; Inoue, F.; Imashuku, S.; Takamatsu, T.; Sawada, T.: Type I glycogen storage disease with vasoconstrictive pulmonary hypertension. J. Inherit. Metab. Dis. 13: 102-107, 1990.
[0029337]19925.Gibson, Q. H.: The reduction of methaemoglobin in red blood cells and studies on the cause of idiopathic methaemoglobinaemia. Biochem. J. 42: 13-23, 1948.
[0029338]19926.Greene, H. L.; Slonim, A. E.; O'Neill, J. A., Jr.; Burr, I. M. : Continuous nocturnal intragastric feeding for management of type 1 glycogen-storage disease. New Eng. J. Med. 294: 423-425, 1976.
[0029339]19927.Howell, R. R.: The glycogen storage diseases.In: Stanbury, J. B.; Wyngaarden, J. B.; Fredrickson, D. S.: The Metabolic Basis of Inherited Disease. New York: McGraw-Hill (pub.) (4th ed.): 1978. Pp. 137-159.
[0029340]19928.Howell, R. R.: The interrelationship of glycogen storage disease and gout. Arthritis Rheum. 8: 780-785, 1965.
[0029341]19929.Howell, R. R.; Stevenson, R. E.; Ben-Menachem, Y.; Phyliky, R. L.; Berry, D. H.: Hepatic adenomata with type I glycogen storage disease. J. Nucl. Med. 19: 354-358, 1978.
[0029342]19930.Ito, E.; Sato, Y.; Kawauchi, K.; Munakata, H.; Kamata, Y.; Yodono, H.; Yokoyama, M.: Type 1a glycogen storage disease with hepatoblastoma in siblings. Cancer 59: 1776-1780, 1987.
[0029343]19931.Kajihara, S.; Matsuhashi, S.; Yamamoto, K.; Kido, K.; Tsuji, K.; Tanae, A.; Fujiyama, S.; Itoh, T.; Tanigawa, K.; Uchida, M.; Setoguchi, Y.; Motomura, M.; Mizuta, T.; Sakai, T.: Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type 1a in Japan. Am. J. Hum. Genet. 57: 549-555, 1995.
[0029344]19932.Kikuchi, M.; Hasegawa, K.; Handa, I.; Watabe, M.; Narisawa, K.; Tada, K.: Chronic pancreatitis in a child with glycogen storage disease type 1. Europ. J. Pediat. 150: 852-853, 1991.
[0029345]19933.Lee, P. J.; Dixon, M. A.; Leonard, J. V.: Uncooked cornstarch--efficacy in type I glycogenosis. Arch. Dis. Child. 74: 546-547, 1996.
[0029346]19934.Lee, W.-J.; Lee, H.-M.; Chi, C.-S.; Shu, S.-G.; Lin, L.-Y.; Lin, W.-H.: Genetic analysis of the glucose-6-phosphatase mutation of type 1a glycogen storage disease in a Chinese family. Clin. Genet. 50: 206-211, 1996.
[0029347]19935.Lei, K.-J.; Chen, H.; Pan, C.-J.; Ward, J. M.; Mosinger, B., Jr.; Lee, E. J.; Westphal, H.; Mansfield, B. C.; Chou, J. Y.: Glucose-6-phosphatase dependent substrate transport in the glycogen storage disease type-1a mouse. Nature Genet. 13: 203-209, 1996.
[0029348]19936.Lei, K.-J.; Chen, Y.-T.; Chen, H.; Wong, L.-J. C.; Liu, J.-L.; McConkie-Rosell, A.; Van Hove, J. L. K.; Ou, H. C.-Y.; Yeh, N. J.; Pan, L. Y.; Chou, J. Y.: Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus. Am. J. Hum. Genet. 57: 766-771, 1995.
[0029349]19937.Lei, K.-J.; Pan, C.-J.; Shelly, L. L.; Liu, J.-L.; Chou, J. Y. : Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1A. J. Clin. Invest. 93: 1994-1999, 1994.
[0029350]19938.Lei, K.-J.; Shelly, L. L.; Lin, B.; Sidbury, J. B.; Chen, Y.-T.; Nordlie, R. C.; Chou, J. Y.: Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c. J. Clin. Invest. 95: 234-240, 1995.
[0029351]19939.Lei, K.-J.; Shelly, L. L.; Pan, C.-J.; Sidbury, J. B.; Chou, J. Y.: Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a. Science 262: 580-583, 1993.
[0029352]19940.Limmer, J.; Fleig, W. E.; Leupold, D.; Bittner, R.; Ditschuneit, H.; Beger, H.-G.: Hepatocellular carcinoma in type I glycogen storage disease. Hepatology 8: 531-537, 1988.
[0029353]19941.Malatack, J. J.; Finegold, D. N.; Iwatsuki, S.; Shaw, B. W., Jr.; Gartner, J. C.; Zitelli, B. J.; Roe, T.; Starzl, T. E.: Liver transplantation for type I glycogen storage disease. Lancet I: 1073-1075, 1983.
[0029354]19942.Aksentijevich, I.; Gruberg, L.; Pras, E.; Balow, J. E., Jr.; Kovo, M.; Gazit, E.; Dean, M.; Pras, M.; Kastner, D. L.: Evidence for linkage of the gene causing familial Mediterranean fever to chromosome 17q in non-Ashkenazi Jewish families: second locus or type I error? Hum. Genet. 91: 527-534, 1993.
[0029355]19943.Aksentijevich, I.; Pras, E.; Gruberg, L.; Shen, Y.; Holman, K.; Helling, S.; Prosen, L.; Sutherland, G. R.; Richards, R. I.; Ramsburg, M.; Dean, M.; Pras, M.; Amos, C. I.; Kastner, D. L.: Refined mapping of the gene causing familial Mediterranean fever, by linkage and homozygosity studies. Am. J. Hum. Genet. 53: 451-461, 1993.
[0029356]19944.Aksentijevich, I.; Pras, E.; Gruberg, L.; Shen, Y.; Richards, R. I.; Prosen, L.; Helling, S.; Pras, M.; Kastner, D. L.: Linkage disequilibrium in the familial Mediterranean fever candidate region. (Abstract) Am. J. Hum. Genet. 51 (suppl.): A181, 1992.
[0029357]19945.Aksentijevich, I.; Torosyan, Y.; Samuels, J.; Centola, M.; Pras, E.; Chae, J. J.; Oddoux, C.; Wood, G.; Azzaro, M. P.; Palumbo, G.; Giustolisi, R.; Pras, M.; Ostrer, H.; Kastner, D. L.: Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. Am. J. Hum. Genet. 64: 949-962, 1999.
[0029358]19946.Armenian, H. K.: Enrollment bias and variation in clinical manifestations: a review of consecutive cases of familial paroxysmal polyserositis. J. Chronic Dis. 36: 209-212, 1983.
[0029359]19947.Armenian, H. K.; Khachadurian, A. K.: Familial paroxysmal polyserositis: clinical and laboratory findings in 120 cases. Leban. Med. J. 26: 605-614, 1973.
[0029360]19948.Ayesh, S. K.; Ferne, M.; Flechner, I.; Babior, B. M.; Matzner, Y.: Partial characterization of a C5a-inhibitor in peritoneal fluid. J. Immun. 144: 3066-3070, 1990.
[0029361]19949.Babior, B. M.; Matzner, Y.: The familial Mediterranean fever gene--cloned at last. New Eng. J. Med. 337: 1548-1549, 1997.
[0029362]19950.Barakat, M. H.; El-Khawad, A. O.; Gumaa, K. A.; El-Sobki, N. I.; Fenech, F. F.: Metaraminol provocative test: a specific diagnostic test for familial Mediterranean fever. Lancet I: 656-657, 1984.
[0029363]19951.Barakat, M. H.; El-Sobki, N. I.; El-Khawad, A. O.; Gumma, K. A.; Fenech, F. F.: Diagnosing familial Mediterranean fever. (Letter) Lancet II: 41-42, 1984.
[0029364]19952.Barakat, M. H.; Karnik, A. M.; Majeed, H. W. A.; El-Sobki, N. I.; Fenech, F. F.: Familial Mediterranean fever (recurrent hereditary polyserositis) in Arabs--a study of 175 patients and review of the literature. Quart. J. Med. 60: 837-847, 1986.
[0029365]19953.Barakat, M. H.; Mustafa, H. T.; Shakir, R. A.: Mollaret's meningitis: a variant of recurrent hereditary polyserositis, both provoked by metaraminol. Arch. Neurol. 45: 926-927, 1988.
[0029366]19954.Ben-Chetrit, E.; Scherrmann, J.-M.; Levy, M.: Colchicine in breast milk of patients with familial Mediterranean fever. Arthritis Rheum. 39: 1213-1217, 1996.
[0029367]19955.Benson, M. D.; Skinner, M.; Cohen, A. S.: Amyloid deposition in a renal transplant in familial Mediterranean fever. Ann. Intern. Med. 87: 31-34, 1977.
[0029368]19956.Bernot, A.; da Silva, C.; Petit, J.-L.; Cruaud, C.; Caloustian, C.; Castet, V.; Ahmed-Arab, M.; Dross, C.; Dupont, M.; Cattan, D.; Smaoui, N.; Dode, C.; and 10 others: Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF). Hum. Molec. Genet. 7: 1317-1325, 1998.
[0029369]19957.Booth, D. R.; Booth, S. E.; Gillmore, J. D.; Hawkins, P. N.; Pepys, M. B.: SAA1 alleles as risk factors in reactive systemic AA amyloidosis. Amyloid 5: 262-265, 1998.
[0029370]19958.Brik, R.; Litmanovitz, D.; Berkowitz, D.; Shamir, R.; Rosenthal, E.; Shinawi, M.; Gershoni-Baruch, R.: Incidence of familial Mediterranean fever (FMF) mutations among children of Mediterranean extraction with functional abdominal pain. J. Pediat. 138: 759-762, 2001.
[0029371]19959.Cattan, D.; Dervichian, M.; Courillon, A.; Nurit, Y.: Metaraminol provocation test for familial Mediterranean fever. (Letter) Lancet I: 1130-1131, 1984.
[0029372]19960.Cattan, D.; Notarnicola, C.; Molinari, N.; Touitou, I.: Inflammatory bowel disease in non-Ashkenazi Jews with familial Mediterranean fever. Lancet 355: 378-379, 2000.
[0029373]19961.Chae, J. J.; Centola, M.; Aksentijevich, I.; Dutra, A.; Tran, M.; Wood, G.; Nagaraju, K.; Kingma, D. W.; Liu, P. P.; Kastner, D. L.: Isolation, genomic organization, and expression analysis of the mouse and rat homologs of MEFV, the gene for familial Mediterranean fever. Mammalian Genome 11: 428-435, 2000.
[0029374]19962.Chen, X.; Fischel-Ghodsian, N.; Cercek, A.; Hamon, M.; Ogur, G.; Lotan, R.; Danon, Y.; Shohat, M.: Assessment of pyrin gene mutations in Turks with familial Mediterranean fever (FMF). Hum. Mutat. 11: 456-460, 1998.
[0029375]19963.Daniels, M.; Shohat, T.; Brenner-Ullman, A.; Shohat, M.: Familial Mediterranean fever: high gene frequency among the non-Ashkenazic and Ashkenazic Jewish populations in Israel. Am. J. Med. Genet. 55: 311-314, 1995.
[0029376]19964.Dewalle, M.; Domingo, C.; Rozenbaum, M.; Ben-Chetrit, E.; Cattan, D.; Bernot, A.; Dross, C.; Dupont, M.; Notarnicola, C.; Levy, M.; Rosner, I.; Demaille, J.; Touitou, I.: Phenotypegenotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF). Europ. J. Hum. Genet. 6: 95-97, 1998.
[0029377]19965.Ito, K.; Suzuki, H.; Hirohashi, T.; Kume, K.; Shimizu, T.; Sugiyama, Y.: Molecular cloning of canalicular multispecific organic anion transporter defective in EHBR. Am. J. Physiol. 272: G16-G22, 1997.
[0029378]19966.van Kuijck, M. A.; Kool, M.; Merkx, G. F. M.; Geurts van Kessel, A.; Bindels, R. J. M.; Deen, P. M. T.; van Os, C. H.: Assignment of the canalicular multispecific organic anion transporter gene (CMOAT) to human chromosome 10q24 and mouse chromosome 19D2 by fluorescent in situ hybridization. Cytogenet. Cell Genet. 77: 285-287, 1997.
[0029379]19967.Wada, M.; Toh, S.; Taniguchi, K.; Nakamura, T.; Uchiumi, T.; Kohno, K.; Yoshida, I.; Kimura, A.; Sakisaka, S.; Adachi, Y.; Kuwano, M. : Mutations in the canalicular multispecific organic anion transporter (cMOAT) gene, a novel ABC transporter, in patients with hyperbilirubinemia II/Dubin-Johnson syndrome. Hum. Molec. Genet. 7: 203-207, 1998.
[0029380]19968.Spranger, J. W.: Personal Communication. Kiel, Germany 1974.
[0029381]19969.Victoria, T.; Rafi, M. A.; Wenger, D. A.: Cloning of the canine GALC cDNA and identification of the mutation causing globoid cell leukodystrophy in West Highland White and Cairn terriers. Genomics 33: 457-462, 1996.
[0029382]19970.Wenger, D. A.; Rafi, M. A.; Luzi, P.: Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications. Hum. Mutat. 10: 268-279, 1997.
[0029383]19971.Zlotogora, J.; Chakraborty, S.; Knowlton, R. G.; Wenger, D. A. : Krabbe disease locus mapped to chromosome 14 by genetic linkage. Am. J. Hum. Genet. 47: 37-44, 1990.
[0029384]19972.Zlotogora, J.; Regev, R.; Zeigler, M.; Iancu, T. C.; Bach, G. : Krabbe disease: increased incidence in a highly inbred community. Am. J. Med. Genet. 21: 765-770, 1985.
[0029385]19973.Rushton, A. R.; Dawson, G.: Genetic linkage studies of the human glycosphingolipid beta-galactosidases. Biochem. Genet. 15: 1071-1082, 1977.
[0029386]19974.Balciunaite, G.; Keller, M. P.; Balciunaite, E.; Piali, L.; Zuklys, S.; Mathieu, Y. D.; Gill, J.; Boyd, R.; Sussman, D. J.; Hollander, G. A.: Wnt glycoproteins regulate the expression of FoxN1, the gene defective in nude mice. Nature Immun. 15Oct, 2002. Note: Advance Electronic Publication.
[0029387]19975.Frank, J.; Pignata, C.; Panteleyev, A. A.; Prowse, D. M.; Baden, H.; Weiner, L.; Gaetaniello, L.; Ahmad, W.; Pozzi, N.; Caerhalmi-Friedman, P. B.; Aita, V. M.; Uyttendaele, H.; Gordon, D.; Ott, J.; Brissette, J. L.; Christiano, A. M.: Exposing the human nude phenotype. Nature 398: 473-474, 1999.
[0029388]19976.Nehls, M.; Pfeifer, D.; Schorpp, M.; Hedrich, H.; Boehm, T.: New member of the winged-helix protein family disrupted in mouse and rat nude mutations. Nature 372: 103-107, 1994.
[0029389]19977.Pignata, C.; Fiore, M.; Guzzetta, V.; Castaldo, A.; Sebastio, G.; Porta, F.; Guarino, A.: Congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency in two sibs. Am. J. Med. Genet. 65: 167-170, 1996.
[0029390]19978.Schorpp, M.; Hofmann, M.; Dear, T. N.; Boehm, T.: Characterization of mouse and human nude genes. Immunogenetics 46: 509-515, 1997.
[0029391]19979.Segre, J. A.; Nemhauser, J. L.; Taylor, B. A.; Nadeau, J. H.; Lander, E. S.: Positional cloning of the nude locus: genetic, physical, and transcription maps of the region and mutations in the mouse and rat. Genomics 28: 549-559, 1995.
[0029392]19980.Delpire, E.; Lu, J.; England, R.; Dull, C.; Thorne, T.: Deafness and imbalance associated with inactivation of the secretory Na-K-2Cl co-transporter. Nature Genet. 22: 192-195, 1999.
[0029393]19981.Evans, R. L.; Park, K.; Turner, R. J.; Watson, G. E.; Nguyen, H.-V.; Dennett, M. R.; Hand, A. R.; Flagella, M.; Shull, G. E.; Melvin, J. E.: Severe impairment of salivation in Na+/K+/2Clcotransporter (NKCC1)-deficient mice. J. Biol. Chem. 275: 26720-26726, 2000.
[0029394]19982.Payne, J. A.; Xu, J.-C.; Haas, M.; Lytle, C. Y.; Ward, D.; Forbush, B., III: Primary structure, functional expression, and chromosomal localization of the bumetanide-sensitive Na-K-Cl cotransporter in human colon. J. Biol. Chem. 270: 17977-17985, 1995.
[0029395]19983.Quaggin, S. E.; Payne, J. A.; Forbush, B., III; Igarashi, P.: Localization of the renal Na-K-Cl cotransporter gene (Slc12a1) on mouse chromosome 2. Mammalian Genome 6: 557-561, 1995.
[0029396]19984.Xu, J.-C.; Lytle, C.; Zhu, T. T.; Payne, J. A.; Benz, E., Jr.; Forbush, B., III: Molecular cloning and functional expression of the bumetanide-sensitive Na-K-Cl cotransporter. Proc. Nat. Acad. Sci. 91: 2201-2205, 1994.
[0029397]19985.Sedlacek, Z.; Konecki, D. S.; Korn, B.; Klauck, S. M.; Poustka, A.: Evolutionary conservation and genomic organization of XAP-4, an Xq28 located gene coding for a human rab GDPdissociation inhibitor (GDI). Mammalian Genome 5: 633-639, 1995.
[0029398]19986.Sedlacek, Z.; Munstermann, E.; Mincheva, A.; Lichter, P.; Poustka, A.: The human rab GDI beta gene with long retroposon-rich introns maps to 10p15 and its pseudogene to 7p11-p13. Mammalian Genome 9: 78-80, 1998.
[0029399]19987.Desseyn, J.-L.; Aubert, J.-P.; van Seuningen, I.; Porchet, N.; Laine, A.: Genomic organization of the 3-prime region of the human mucin gene MUC5B. J. Biol. Chem. 272: 16873-16883, 1997.
[0029400]19988.Desseyn, J.-L.; Guyonnet-Duperat, V.; Porchet, N.; Aubert, J.-P.; Laine, A.: Human mucin gene MUC5B, the 10.7-kb large central exon encodes various alternate subdomains resulting in a super-repeat: structural evidence for a 11p15.5 gene family. J. Biol. Chem. 272: 3168-3178, 1997.
[0029401]19989.Gipson, I. K.; Moccia, R.; Spurr-Michaud, S.; Argueso, P.; Gargiulo, A. R.; Hill, J. A., III; Offner, G. D.; Keutmann, H. T.: The amount of MUC5B in cervical mucus peaks at midcycle. J. Clin. Endocr. Metab. 86: 594-600, 2001.
[0029402]19990.Keates, A. C.; Nunes, D. P.; Afdhal, N. H.; Troxler, R. F.; Offner, G. D.: Molecular cloning of a major human gall bladder mucin: complete C-terminal sequence and genomic organization of MUC5B. Biochem. J. 324: 295-303, 1997.
[0029403]19991.Troxler, R. F.; Offner, G. D.; Zhang, F.; Iontcheva, I.; Oppenheim, F. G.: Molecular cloning of a novel high molecular weight mucin (MG1) from human sublingual gland. Biochem. Biophys. Res. Commun. 217: 1112-1119, 1995.
[0029404]19992.Birck, C.; Poch, O.; Romier, C.; Ruff, M.; Mengus, G.; Lavigne, A.-C.; Davidson, I.; Moras, D.: Human TAFII28 and TAFII18 interact through a histone fold encoded by atypical evolutionary conserved motifs also found in the SPT3 family. Cell 94: 239-249, 1998.
[0029405]19993.Mengus, G.; May, M.; Jacq, X.; Staub, A.; Tora, L.; Chambon, P.; Davidson, I.: Cloning and characterization of hTAFII18, hTAFII20 and hTAFII28: three subunits of the human transcription factor TFIID. EMBO J. 14: 1520-1531, 1995.
[0029406]19994.Waisfisz, Q.; Saar, K.; Morgan, N. V.; Altay, C.; Leegwater, P. A.; de Winter, J. P.; Komatsu, K.; Evans, G. R.; Wegner, R.-D.; Reis, A.; Joenje, H.; Arwert, F.; Mathew, C. G.; Pronk, J. C.; Digweed, M.: The Fanconi anemia group E gene, FANCE, maps to chromosome 6p. Am. J. Hum. Genet. 64: 1400-1405, 1999.
[0029407]19995.Wegner, R.-D.; Henrichs, I.; Joenje, H.; Schroeder-Kurth, T.: Fanconi anemia complementation group E: clinical and cytogenetic data of the first patient. Clin. Genet. 50: 479-482, 1996.
[0029408]19996.Fink, J. M.; Hirsch, B.; Zheng, C.; Deitz, G.; Hatten, M. E.; Ross, M. E.: The CNS neuronal migration gene, astrotactin, is mapped to human chromosome band 1q25 by fluorescence in situ hybridization (FISH). (Abstract) Am. J. Hum. Genet. 57: A133 only, 1995.
[0029409]19997.Baker, C. H.; Matsuda, S. P. T.; Liu, D. R.; Corey, E. J.: Molecular cloning of the human gene encoding lanosterol synthase from a liver cDNA library. Biochem. Biophys. Res. Commun. 213: 154-160, 1995.
[0029410]19998.Roessler, E.; Mittaz, L.; Du, Y.; Scott, H. S.; Chang, J.; Rossier, C.; Guipponi, M.; Matsuda, S. P. T.; Muenke, M.; Antonarakis, S. E. : Structure of the human lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1). Hum. Genet. 105: 489-495, 1999.
[0029411]19999.Young, M.; Chen, H.; Lalioti, M. D.; Antonarakis, S. E.: The human lanosterol synthase gene maps to chromosome 21q22.3. Hum. Genet. 97: 620-624, 1996.
[0029412]20000.Green, P.; Lipman, D.; Hillier, L.; Waterston, R.; States, D.; Claverie, J.-M.: Ancient conserved regions in new gene sequences and the protein databases. Science 259: 1711-1716, 1993.
[0029413]20001.Schwartz, F.; Eisenman, R.; Knoll, J.; Gessler, M.; Bruns, G.: cDNA sequence, genomic organization, and evolutionary conservation of a novel gene from the WAGR region. Genomics 29: 526-532, 1995.
[0029414]20002.Schwartz, F.; Neve, R.; Eisenman, R.; Gessler, M.; Bruns, G.: A WAGR region gene between PAX-6 and FSHB expressed in fetal brain. Hum. Genet. 94: 658-664, 1994.
[0029415]20003.Joseph, R. E.; Walker, J.; Norris, F. A.: Assignment of the inositol polyphosphate 4-phosphatase type I gene (INPP4A) to human chromosome band 2q11.2 by in situ hybridization. Cytogenet. Cell Genet. 87: 276-277, 1999.
[0029416]20004.Norris, F. A.; Auethavekiat, V.; Majerus, P. W.: The isolation and characterization of cDNA encoding human and rat brain inositol polyphosphate 4-phosphatase. J. Biol. Chem. 270: 16128-16133, 1995.
[0029417]20005.van den Maagdenberg, A. M. J. M.; van den Hurk, H. H.; Olde Weghuis, D.; Wieringa, B.; Geurts van Kessel, A.; Hendriks, W. J. A. J.: Assignment of the human protein tyrosine phosphatase epsilon (PTPRE) gene to chromosome 10q26 by fluorescence in situ hybridization. Genomics 30: 128-129, 1995.
[0029418]20006.Yue, Q.; Jen, J. C.; Nelson, S. F.; Baloh, R. W.: Progressive ataxia due to a missense mutation in a calcium-channel gene. Am. J. Hum. Genet. 61: 1078-1087, 1997.
[0029419]20007.Wojcik, J.; Berg, M. A.; Esposito, N.; Geffner, M. E.; Sakati, N.; Reiter, E. O.; Dower, S.; Francke, U.; Postel-Vinay, M.-C.; Finidori, J.: Four contiguous amino acid substitutions, identified in patients with Laron syndrome, differently affect the binding affinity and intracellular trafficking of the growth hormone receptor. J. Clin. Endocr. Metab. 83: 4481-4489, 1998.
[0029420]20008.Azim, A. C.; Knoll, J. H. M.; Marfatia, S. M.; Peel, D. J.; Bryant, P. J.; Chishti, A. H.: DLG1: chromosome location of the closest human homologue of the Drosophila discs large tumor suppressor gene. Genomics 30: 613-616, 1995.
[0029421]20009.Burgess, D. L.; Rafael, J. A.; Meisler, M. H.; Chamberlain, J. S.: Dlgh1, a mouse homolog of the Drosophila discs-large gene, is located on chromosome 16. Mammalian Genome 7: 623-624, 1996.
[0029422]20010.Hanada, T.; Lin, L.; Chandy, K. G.; Oh, S. S.; Chishti, A. H.: Human homologue of the Drosophila discs large tumor suppressor binds to p56lck tyrosine kinase and Shaker type Kv1.3 potassium channel in T lymphocytes. J. Biol. Chem. 272: 26899-26904, 1997.
[0029423]20011.Lue, R. A.; Marfatia, S. M.; Branton, D.; Chishti, A. H.: Cloning and characterization of hdlg: the human homologue of the Drosophila discs large tumor suppressor binds to protein 4.1. Proc. Nat. Acad. Sci. 91: 9818-9822, 1994.
[0029424]20012.Mori, K.; Iwao, K.; Miyoshi, Y.; Nakagawara, A.; Kofu, K.; Akiyama, T.; Arita, N.; Hayakawa, T.; Nakamura, Y.: Identification of brain-specific splicing variants of the hDLG1 gene and altered splicing in neuroblastoma cell lines. J. Hum. Genet. 43: 123-127, 1998.
[0029425]20013.Peters, L. L.; Ciciotte, S. L.; Lin, L.; Chishti, A. H.: The mouse homolog of the Drosophila discs large tumor suppressor gene maps to chromosome 16. Mammalian Genome 7: 619-620, 1996.
[0029426]20014.Woods, K. A.; Dastot, F.; Preece, M. A.; Clark, A. J. L.; Postel-Vinay, M.-C.; Chatelain, P. G.; Ranke, M. B.; Rosenfeld, R. G.; Amselem, S.; Savage, M. O.: Phenotype:genotype relationships in growth hormone insensitivity syndrome. J. Clin. Endocr. Metab. 82: 3529-3535, 1997.
[0029427]20015.Bertaux, F.; Sharp, A. H.; Ross, C. A.; Lehrach, H.; Bates, G. P.; Wanker, E.: HAP1-huntingtin interactions do not contribute to the molecular pathology in Huntington's disease transgenic mice. FEBS Lett. 426: 229-232, 1998.
[0029428]20016.Engelender, S.; Sharp, A. H.; Colomer, V.; Tokito, M. K.; Lanahan, A.; Worley, P.; Holzbaur, E. L. F.; Ross, C. A.: Huntingtin-associated protein 1 (HAP1) interacts with the p150(Glued) subunit of dynactin. Hum. Molec. Genet. 6: 2205-2212, 1997.
[0029429]20017.Li, S.-H.; Hosseini, S. H.; Gutekunst, C.-A.; Hersch, S. M.; Ferrante, R. J.; Li, X.-J.: A human HAP1 homologue: cloning, expression, and interaction with huntingtin. J. Biol. Chem. 273: 19220-19227, 1998.
[0029430]20018.Li, X.-J.; Li, S.-H.; Sharp, A. H.; Nucifora, F. C., Jr.; Schilling, G.; Lanahan, A.; Worley, P.; Snyder, S. H.; Ross, C. A.: A huntingtin-associated protein enriched in brain with implications for pathology. Nature 378: 398-402, 1995.
[0029431]20019.Nasir, J.; Duan, K.; Nichol, K.; Engelender, S.; Ashworth, R.; Colomer, V.; Thomas, S.; Disteche, C. M.; Hayden, M. R.; Ross, C. A.: Gene structure and map location of the murine homolog of the Huntington-associated protein, Hap1. Mammalian Genome 9: 565-570, 1998.
[0029432]20020.Nasir, J.; Lafuente, M.-J.; Duan, K.; Colomer, V.; Engelender, S.; Ingersoll, R.; Margolis, R. L.; Ross, C. A.; Hayden, M. R.: Human huntingtin-associated protein (HAP-1) gene: genomic organisation and an intragenic polymorphism. Gene 254: 181-187, 2000.
[0029433]20021.Coon, S. L.; Mazuruk, K.; Bernard, M.; Roseboom, P. H.; Klein, D. C.; Rodriguez, I. R.: The human serotonin N-acetyltransferase (EC 2.3.1.87) gene (AANAT): structure, chromosomal localization, and tissue expression. Genomics 34: 76-84, 1996.
[0029434]20022.Coon, S. L.; Roseboom, P. H.; Baler, R.; Weller, J. L.; Namboodiri, M. A. A.; Koonin, E. V.; Klein, D. C.: Pineal serotonin N-acetyltransferase: expression cloning and molecular analysis. Science 270: 1681-1683, 1995.
[0029435]20023.Joy, J. E.; Johnson, G. S.; Lazar, T.; Ralph, M. R.; Hochstrasser, A. C.; Menaker, M.; Merril, C. R.: Protein differences in tau mutant hamsters: candidate clock proteins. Brain Res. Mol. Brain Res. 15: 8-14, 1992.
[0029436]20024.Ralph, M. R.; Menaker, M.: A mutation of the circadian system in golden hamsters. Science 241: 1225-1227, 1988.
[0029437]20025.Tosini, G.; Menaker, M.: Circadian rhythms in cultured mammalian retina. Science 272: 419-421, 1996.
[0029438]20026.Yoshimura, T.; Nagabukuro, A.; Matsuda, Y.; Suzuki, T.; Kuroiwa, A.; Iigo, M.; Namikawa, T.; Ebihara, S.: Chromosomal mapping of the gene encoding serotonin N-acetyltransferase to rat chromosome 10q32.3 and mouse chromosome 11E2. Cytogenet. Cell Genet. 79: 172-175, 1997.
[0029439]20027.Broccoli, D.; Chong, L.; Oelmann, S.; Fernald, A. A.; Marziliano, N.; van Steensel, B.; Kipling, D.; Le Beau, M. M.; de Lange, T.: Comparison of the human and mouse genes encoding the telomeric protein, TRF1: chromosomal localization, expression and conserved protein domains. Hum. Molec. Genet. 6: 69-76, 1997.
[0029440]20028.Chong, L.; van Steensel, B.; Broccoli, D.; Erdjument-Bromage, H.; Hanish, J.; Tempst, P.; de Lange, T.: A human telomeric protein. Science 270: 1663-1667, 1995.
[0029441]20029.Fairall, L.; Chapman, L.; Moss, H.; de Lange, T.; Rhodes, D.: Structure of the TRFH dimerization domain of the human telomeric proteins TRF1 and TRF2. Molec. Cell 8: 351-361, 2001.
[0029442]20030.Griffith, J. D.; Comeau, L.; Rosenfield, S.; Stansel, R. M.; Bianchi, A.; Moss, H.; de Lange, T.: Mammalian telomeres end in a large duplex loop. Cell 97: 503-514, 1999.
[0029443]20031.Kim, S.; Kaminker, P.; Campisi, J.: TIN2, a new regulator of telomere length in human cells. Nature Genet. 23: 405-412, 1999.
[0029444]20032.Marcand, S.; Gilson, E.; Shore, D.: A protein-counting mechanism for telomere length regulation in yeast. Science 275: 986-990, 1997.
[0029445]20033.Okabe, J.; Eguchi, A.; Masago, A.; Hayakawa, T.; Nakanishi, M. : TRF1 is a critical trans-acting factor required for de novo telomere formation in human cells. Hum. Molec. Genet. 9: 2639-2650, 2000.
[0029446]20034.Young, A. C.; Chavez, M.; Giambernardi, T. A.; Mattern, V.; McGill, J. R.; Harris, J. M.; Sarosdy, M. F.; Patel, P.; Sakaguchi, A. Y. : Organization and expression of human telomere repeat binding factor genes. Somat. Cell Molec. Genet. 23: 275-286, 1997.
[0029447]20035.Zakian, V. A.: Telomeres: beginning to understand the end. Science 270: 1601-1607, 1995.
[0029448]20036.Brodsky, G.; Otterson, G. A.; Parry, B. B.; Hart, I.; Patterson, D.; Kaye, F. J.: Localization of STCH to human chromosome 21q11.1. Genomics 30: 627-628, 1995.
[0029449]20037.Otterson, G. A.; Flynn, G. C.; Kratzke, R. A.; Coxon, A.; Johnston, P. G.; Kaye, F. J.: Stch encodes the 'ATPase core' of a microsomal stress70 protein. EMBO J. 13: 1216-1225, 1994.
[0029450]20038.Reeves, R. H.; Rue, E.; Yu, J.; Kao, F.-T.: Stch maps to mouse chromosome 16, extending the conserved synteny with human chromosome 21. Genomics 49: 156-157, 1998.
[0029451]20039.Nielsen, P. J.; Rochelle, J. M.; Seldin, M. F.: The functional genes for protein synthesis initiation factor 4AI and 4AII map to mouse chromosomes 11 and 16. Mammalian Genome 4: 185-186, 1993.
[0029452]20040.Nielsen, P. J.; Trachsel, H.: The mouse protein synthesis initiation factor 4A gene family includes two related functional genes which are differentially expressed. EMBO J. 7: 2097-2105, 1988.
[0029453]20041.Sudo, K.; Takahashi, E.; Nakamura, Y.: Isolation and mapping of the human EIF4A2 gene homologous to the murine protein synthesis initiation factor 4A-II gene Eif4a2. Cytogenet. Cell Genet. 71: 385-388, 1995.
[0029454]20042.Gibson, M. A.; Hatzinikolas, G.; Kumaratilake, J. S.; Sandberg, L. B.; Nicholl, J. K.; Sutherland, G. R.; Cleary, E. G.: Further characterization of proteins associated with elastic fiber microfibrils including the molecular cloning of MAGP-2 (MP25). J. Biol. Chem. 271: 1096-1103, 1996.
[0029455]20043.Gelb, B. D.; Willner, J. P.; Verloes, A.; Herens, C.; Desnick, R. J.: Mutation analysis of pycnodysostosis reveals uniparental disomy of chromosome 1. (Abstract) Am. J. Hum. Genet. 61 (suppl.): A28 only, 1997.
[0029456]20044.Gladyshev, V. N.; Jeang, K.-T.; Stadtman, T. C.: Selenocysteine, identified as the penultimate C-terminal residue in human T-cell thioredoxin reductase, corresponds to TGA in the human placental gene. Proc. Nat. Acad. Sci. 93: 6146-6151, 1996.
[0029457]20045.Zhang, K.; Lindsberg, P. J.; Tatlisumak, T.; Kaste, M.; Olsen, H. S.; Andersson, L. C.: Stanniocalcin: a molecular guard of neurons during cerebral ischemia. Proc. Nat. Acad. Sci. 97: 3637-3642, 2000.
[0029458]20046.Gillett, G. T.; Fox, M. F.; Rowe, P. S. N.; Casimir, C. M.; Povey, S.: Mapping of human non-muscle type cofilin (CFL1) to chromosome 11q13 and muscle-type cofilin (CFL2) to chromosome 14. Ann. Hum. Genet. 60: 201-211, 1996.
[0029459]20047.Ogawa, K.; Tashima, M.; Yumoto, Y.; Okuda, T.; Sawada, H.; Okuma, M.; Maruyama, Y.: Coding sequence of human placenta cofilin cDNA. Nuc. Acids Res. 18: 7169 only, 1990.
[0029460]20048.Ono, S.; Minami, N.; Abe, H.; Obinata, T.: Characterization of a novel cofilin isoform that is predominantly expressed in mammalian skeletal muscle. J. Biol. Chem. 269: 15280-15286, 1994.
[0029461]20049.Georgakopoulos, T.; Thireos, G.: Two distinct yeast transcriptional activators require the function of the GCN5 protein to promote normal levels of transcription. EMBO J. 11: 4145-4152, 1992.
[0029462]20050.Inoue, M.; Isomura, M.; Ikegawa, S.; Fujiwara, T.; Shin, S.; Moriya, H.; Nakamura, Y.: Isolation and characterization of a human cDNA clone (GCN5L1) homologous to GCN5, a yeast transcription factor. Cytogenet. Cell Genet. 73: 134-136, 1996.
[0029463]20051.Emahazion, T.; Beskow, A.; Gyllensten, U.; Brookes, A. J.: Intron based radiation hybrid mapping of 15 complex I genes of the human electron transport chain. Cytogenet. Cell Genet. 82: 115-119, 1998.
[0029464]20052.Byrd, P. J.; Cooper, P. R.; Stankovic, T.; Kullar, H. S.; Watts, G. D. J.; Robinson, P. J.; Taylor, M. R.: A gene transcribed from the bidirectional ATM promoter coding for a serine rich protein: amino acid sequence, structure and expression studies. Hum. Molec. Genet. 5: 1785-1791, 1996.
[0029465]20053.Chen, X.; Yang, L.; Udar, N.; Liang, T.; Uhrhammer, N.; Xu, S.; Bay, J.-O.; Wang, Z.; Dandakar, S.; Chiplunkar, S.; Klisak, I.; Telatar, M.; Yang, H.; Concannon, P.; Gatti, R. A.: CAND3: a ubiquitously expressed gene immediately adjacent and in opposite transcriptional orientation to the ATM gene at 11q23.1. Mammalian Genome 8: 129-133, 1997.
[0029466]20054.Imai, T.: Personal Communication. Chiba, Japan 9/12/1996.
[0029467]20055.Imai, T.; Sugawara, T.; Nishiyama, A.; Shimada, R.; Ohki, R.; Seki, N.; Sagara, M.; Ito, H.; Yamauchi, M.; Hori, T.: The structure and organization of the human NPAT gene. Genomics 42: 388-392, 1997.
[0029468]20056.Imai, T.; Yamauchi, M.; Seki, N.; Sugawara, T.; Saito, T.; Matsuda, Y.; Ito, H.; Nagase, T.; Nomura, N.; Hori, T.: Identification and characterization of a new gene physically linked to the ATM gene. Genome Res. 6: 439-447, 1996.
[0029469]20057.Borowsky, B.; Hoffman, B. J.: Analysis of a gene encoding two glycine transporter variants reveals alternative promoter usage and a novel gene structure. J. Biol. Chem. 273: 29077-29085, 1998.
[0029470]20058.Borowsky, B.; Mezey, E.; Hoffman, B. J.: Two glycine transporter variants with distinct localization in the CNS and peripheral tissues are encoded by a common gene. Neuron 10: 851-863, 1993.
[0029471]20059.Jones, E. M. C.; Fernald, A.; Bell, G. I.; Le Beau, M. M.: Assignment of SLC6A9 to human chromosome band 1p33 by in situ hybridization. Cytogenet. Cell Genet. 71: 211, 1995.
[0029472]20060.Kim, K.-M.; Kingsmore, S. F.; Han, H.; Yang-Feng, T. L.; Godinot, N.; Seldin, M. F.; Caron, M. G.; Giros, B.: Cloning of the human glycine transporter type 1: molecular and pharmacological characterization of novel isoform variants and chromosomal localization of the gene in the human and mouse genomes. Molec. Pharmacol. 45: 608-617, 1994.
[0029473]20061.Arai, Y.; Hosoda, F.; Kobayashi, H.; Arai, K.; Hayashi, Y.; Kamada, N.; Kaneko, Y.; Ohki, M.: The inv(11)(p15q22) chromosome translocation of de novo and therapy-related myeloid malignancies results in fusion of the nucleoporin gene, NUP98, with the putative RNA helicase gene, DDX10. Blood 89: 3936-3944, 1997.
[0029474]20062.Dash, A. B.; Williams, I. R.; Kutok, J. L.; Tomasson, M. H.; Anastasiadou, E.; Lindahl, K.; Li, S.; Van Etten, R. A.; Borrow, J.; Housman, D.; Druker, B.; Gilliland, D. G.: A murine model of CML blast crisis induced by cooperation between BCR/ABL and NUP98/HOXA9. Proc. Nat. Acad. Sci. 99: 7622-7627, 2002.
[0029475]20063.Enninga, J.; Levy, D. E.; Blobel, G.; Fontoura, B. M. A.: Role of nucleoporin induction in releasing an mRNA nuclear export block. Science 295: 1523-1525, 2002.
[0029476]20064.Fontoura, B. M.; Blobel, G.; Matunis, M. J.: A conserved biogenesis pathway for nucleoporins: proteolytic processing of a 186-kilodalton precursor generates Nup98 and the novel nucleoporin, Nup96. J. Cell Biol. 144: 1097-1112, 1999.
[0029477]20065.Hodel, A. E.; Hodel, M. R.; Griffis, E. R.; Hennig, K. A.; Ratner, G. A.; Xu, S.; Powers, M. A.: The three-dimensional structure of the autoproteolytic, nuclear pore-targeting domain of the human nucleoporin Nup98. Molec. Cell 10: 347-358, 2002.
[0029478]20066.Jaju, R. J.; Fidler, C.; Haas, O. A.; Strickson, A. J.; Watkins, F.; Clark, K.; Cross, N. C. P.; Cheng, J.-F.; Aplan, P. D.; Kearney, L.; Boultwood, J.; Wainscoat, J. S.: A novel gene, NSD1, is fused to NUP98 in the t(5;11)(q35;p15.5) in de novo childhood acute myeloid leukemia. Blood 98: 1264-1267, 2001.
[0029479]20067.Jaju, R. J.; Haas, C. A.; Neat, M.; et al: A new recurrent translocation, t(5;11)(q35p15.5), associated with del(5q) in childhood acute myeloid leukemia. Blood 94: 773-780, 1999.
[0029480]20068.Mizuno, T.; Kaibuchi, K.; Yamamoto, T.; Kawamura, M.; Sakoda, T.; Fujioka, H.; Matsuura, Y.; Takai, Y.: A stimulatory GDP/GTP exchange protein for smg p21 is active on the posttranslationally processed form of c-Ki-ras p21 and rhoA p21. Proc. Nat. Acad. Sci. 88: 6442-6446, 1991.
[0029481]20069.Nakamura, T.; Largaespada, D. A.; Lee, M. P.; Johnson, L. A.; Ohyashiki, K.; Toyama, K.; Chen, S. J.; Willman, C. L.; Chen, I.-M.; Feinberg, A. P.; Jenkins, N. A.; Copeland, N. G.; Shaughnessy, J. D., Jr.: Fusion of the nucleoporin gene NUP98 to HOXA9 by the chromosome translocation t(7;11)(p15;p15) in human myeloid leukaemia. Nature Genet. 12: 154-158, 1996.
[0029482]20070.Radu, A.; Moore, M. S.; Blobel, G.: The peptide repeat domain of nucleoporin Nup98 functions as a docking site in transport across the nuclear pore complex. Cell 81: 215-222, 1995.
[0029483]20071.Rosati, R.; La Starza, R.; Veronese, A.; Aventin, A.; Schwienbacher, C.; Vallespi, T.; Negrini, M.; Martelli, M. F.; Mecucci, C.: NUP98 is fused to the NSD3 gene in acute myeloid leukemia associated with t(8;11)(p11.2;p15). Blood 99: 3857-3860, 2002.
[0029484]20072.von Kobbe, C.; van Deursen, J. M. A.; Rodrigues, J. P.; Sitterlin, D.; Bachi, A.; Wu, X.; Wilm, M.; Carmo-Fonseca, M.; Izaurralde, E. : Vesicular stomatitis virus matrix protein inhibits host cell gene expression by targeting the nucleoporin Nup98. Molec. Cell 6: 1243-1252, 2000.
[0029485]20073.Cheng, Y.; Austin, S. C.; Rocca, B.; Koller, B. H.; Coffman, T. M.; Grosser, T.; Lawson, J. A.; FitzGerald, G. A.: Role of prostacyclin in the cardiovascular response to thromboxane A2. Science 296: 539-541, 2002.
[0029486]20074.Fuse, I.; Mito, M.; Hattori, A.; Higuchi, W.; Shibata, A.; Ushikubi, F.; Okuma, M.; Yahata, K.: Defective signal transduction induced by thromboxane A2 in a patient with a mild bleeding disorder: impaired phospholipase C activation despite normal phospholipase A2 activation. Blood 81: 994-1000, 1993.
[0029487]20075.Hirata, M.; Hayashi, Y.; Ushikubi, F.; Yokota, Y.; Kageyama, R.; Nakanishi, S.; Narumiya, S.: Cloning and expression of cDNA for a human thromboxane A2 receptor. Nature 349: 617-620, 1991.
[0029488]20076.Hirata, T.; Kakizuka, A.; Ushikubi, F.; Fuse, I.; Okuma, M.; Narumiya, S.: Arg60-toleu mutation of the human thromboxane A2 receptor in a dominantly inherited bleeding disorder. J. Clin. Invest. 94: 1662-1667, 1994.
[0029489]20077.Watanabe, O.; Maruyama, I.; Arimura, K.; Kitajima, I.; Arimura, H.; Hanatani, M.; Matsuo, K.; Arisato, T.; Osame, M.: Overproduction of vascular endothelial growth factor/vascular permeability factor is causative in Crow-Fukase (POEMS) syndrome. Muscle Nerve 21: 1390-1397, 1998.
[0029490]20078.Wei, M.-H.; Popescu, N. C.; Lerman, M. I.; Merrill, M. J.; Zimonjic, D. B.: Localization of the human vascular endothelial growth factor gene, VEGF, at chromosome 6p12. Hum. Genet. 97: 794-797, 1996.
[0029491]20079.Wong, A. K.; Alfert, M.; Castrillon, D. H.; Shen, Q.; Holash, J.; Yancopoulos, G. D.; Chin, L.: Excessive tumor-elaborated VEGF and its neutralization define a lethal paraneoplastic syndrome. Proc. Nat. Acad. Sci. 98: 7481-7486, 2001.
[0029492]20080.Wulff, C.; Wilson, H.; Largue, P.; Duncan, W. C.; Armstrong, D. G.; Fraser, H. M.: Angiogenesis in the human corpus luteum: localization and changes in angiopoietins, Tie-2, and vascular endothelial growth factor messenger ribonucleic acid. J. Clin. Endocr. Metab. 85: 4302-4309, 2000.
[0029493]20081.Ylikorkala, A.; Rossi, D. J.; Korsisaari, N.; Luukko, K.; Alitalo, K.; Henkemeyer, M.; Makela, T. P.: Vascular abnormalities and deregulation of VEGF in Lkb1-deficient mice. Science 293: 1323-1326, 2001.
[0029494]20082.Bodner, M.; Fridkin, M.; Gozes, I.: Coding sequences for vasoactive intestinal peptide and PHM-27 peptide are located on two adjacent exons in the human genome. Proc. Nat. Acad. Sci. 82: 3548-3551, 1985.
[0029495]20083.Delgado, M.; Abad, C.; Martinez, C.; Leceta, J.; Gomariz, R. P. : Vasoactive intestinal peptide prevents experimental arthritis by downregulating both autoimmune and inflammatory components of the disease. Nature Med. 7: 563-568, 2001.
[0029496]20084.Gotoh, E.; Yamagami, T.; Yamamoto, H.; Okamoto, H.: Chromosomal assignment of human VIP/PHM-27 gene to 6q26-q27 region by spot blot hybridization and in situ hybridization. Biochem. Int. 17: 555-562, 1988.
[0029497]20085.Gozes, I.; Avidor, R.; Yahav, Y.; Katznelson, D.; Croce, C. M.; Huebner, K.: The gene encoding vasoactive intestinal peptide is located on human chromosome 6p21-6qter. Hum. Genet. 75: 41-44, 1987.
[0029498]20086.Gozes, I.; Nakai, H.; Byers, M.; Avidor, R.; Weinstein, Y.; Shani, Y.; Shows, T. B.: Sequential expression in the nervous system of C-MYB and VIP genes, located in human chromosomal region 6q24. Somat. Cell Molec. Genet. 13: 305-313, 1987.
[0029499]20087.Heinz-Erian, P.; Dey, R. D.; Flux, M.; Said, S. I.: Deficient vasoactive intestinal peptide innervation in sweat glands of cystic fibrosis patients. Science 229: 1407-1408, 1985.
[0029500]20088.Itoh, N.; Obata, K.; Yanaihara, N.; Okamoto, H.: Human preprovasoactive intestinal polypeptide contains a novel PHI-27-like peptide, PHM-27. Nature 304: 547-549, 1983.
[0029501]20089.Linder, S.; Barkhem, T.; Norberg, A.; Persson, H.; Schalling, M.; Hokfelt, T.; Magnusson, G.: Structure and expression of the gene encoding the vasoactive intestinal peptide precursor. Proc. Nat. Acad. Sci. 84: 605-609, 1987.
[0029502]20090.Omary, M. B.; Kagnoff, M. F.: Identification of nuclear receptors for VIP on a human colonic adenocarcinoma cell line. Science 238: 1578-1581, 1987.
[0029503]20091.Couvineau, A.; Rouyer-Fessard, C.; Darmoul, D.; Maoret, J.-J.; Carrero, I.; Ogier-Denis, E.; Laburthe, M.: Human intestinal VIP receptor: cloning and functional expression of two cDNA encoding proteins with different N-terminal domains. Biochem. Biophys. Res. Commun. 200: 769-776, 1994.
[0029504]20092.Hashimoto, H.; Nishino, A.; Shintani, N.; Hagihara, N.; Copeland, N. G.; Jenkins, N. A.; Yamamoto, K.; Matsuda, T.; Ishihara, T.; Nagata, S.; Baba, A.: Genomic organization and chromosomal location of the mouse vasoactive intestinal polypeptide 1 (VPAC-1) receptor. Genomics 58: 90-93, 1999.
[0029505]20093.Sreedharan, S. P.; Huang, J.-X.; Cheung, M.-C.; Goetzl, E. J.: Structure, expression, and chromosomal localization of the type I human vasoactive intestinal peptide receptor gene. Proc. Nat. Acad. Sci. 92: 2939-2943, 1995.
[0029506]20094.Sreedharan, S. P.; Patel, D. R.; Huang, J.-X.; Goetzl, E. J.: Cloning and functional expression of a human neuroendocrine vasoactive intestinal peptide receptor. Biochem. Biophys. Res. Commun. 193: 546-553, 1993.
[0029507]20095.Sreedharan, S. P.; Robichon, A.; Peterson, K. E.; Goetzl, E. J. : Cloning and expression of the human vasoactive intestinal peptide receptor. Proc. Nat. Acad. Sci. 88: 4986-4990, 1991.
[0029508]20096.Anderson, S. R.; Geertinger, P.; Larsen, H.-W.; Mikkelsen, M.; Parving, A.; Vestermark, S.; Warburg, M.: Aniridia, cataract and gonadoblastoma in a mentally retarded girl with deletion of chromosome 11: a clinicopathological case report. Ophthalmologica 176: 171-177, 1978.
[0029509]20097.Babaian, R. J.; Skinner, D. G.; Waisman, J.: Wilms' tumor in the adult patient: diagnosis, management, and review of the world medical literature. Cancer 45: 1713-1719, 1980.
[0029510]20098.Beckwith, J. B.: Nephrogenic rests and the pathogenesis of Wilms tumor: developmental and clinical considerations. Am. J. Med. Genet. 79: 268-273, 1998.
[0029511]20099.Blanchet, P.; Daloze, P.; Lesage, R.; Papas, S.; van Campenhout, J.: XY gonadal dysgenesis with gonadoblastoma discovered after kidney transplantation. Am. J. Obstet. Gynec. 129: 221-222, 1977.
[0029512]20100.Bond, J. V.: Bilateral Wilms' tumor: age at diagnosis, associated congenital anomalies, and possible pattern of inheritance. Lancet II: 482-484, 1975.
[0029513]20101.Bonetta, L.; Huang, A.; Gregoris, M.; Yeger, H.; Williams, B. R. G.: Characterization of a homozygous deletion mapping to the Wilms tumor region on 11p13. (Abstract) Cytogenet. Cell Genet. 51: 965, 1989.
[0029514]20102.Bove, K. E.: Wilms' tumor and related abnormalities in the fetus and newborn. Semin. Perinatol. 23: 310-318, 1999.
[0029515]20103.Breslow, N. E.; Beckwith, J. R.: Epidemiological features of Wilms' tumor: results of the national Wilms' tumor study. J. Nat. Cancer Inst. 68: 429-436, 1982.
[0029516]20104.Brown, W. T.; Puranik, S. R.; Altman, D. H.; Hardin, H. C., Jr. : Wilms' tumor in three successive generations. Surgery 72: 756-761, 1972.
[0029517]20105.Cordero, J. F.; Li, F. P.; Holmes, L. B.; Gerald, P. S.: Wilms tumor in five cousins. Pediatrics 66: 716-719, 1980.
[0029518]20106.Dao, D. D.; Schroeder, W. T.; Chao, L.-Y.; Kikuchi, H.; Strong, L. C.; Riccardi, V. M.; Pathak, S.; Nichols, W. W.; Lewis, W. H.; Saunders, G. F.: Genetic mechanisms of tumor-specific loss of 11p DNA sequences in Wilms tumor. Am. J. Hum. Genet. 41: 202-217, 1987.
[0029519]20107.de Martinville, B.; Francke, U.: HRAS1, insulin and beta-globin map outside of 11p11.2-p14.1. (Abstract) Cytogenet. Cell Genet. 37: 530, 1984.
[0029520]20108.Denys, P.; Malvaux, P.; van den Berghe, H.; Tanghe, W.; Proesmans, W.: Association d'un syndrome anatomo-pathologique de pseudohermaphrodisme masculin, d'une tumeur de Wilms, d'une nephropathie parenchymateuse et d'un mosaicisme XX/XY. Arch. Franc. Pediat. 24: 729-739, 1967.
[0029521]20109.Ueno, S.; Maruki, Y.; Nakamura, M.; Tomemori, Y.; Kamae, K.; Tanabe, H.; Yamashita, Y.; Matsuda, S.; Kaneko, S.; Sano, A.: The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis. Nature Genet. 28: 121-122, 2001.
[0029522]20110.Wolf, B.; Feldman, G. L.: The biotin-dependent carboxylase deficiencies. Am. J. Hum. Genet. 34: 699-716, 1982.
[0029523]20111.Hirata, T.; Ushikubi, F.; Kakizuka, A.; Okuma, M.; Narumiya, S. : Two thromboxane A(2) receptor isoforms in human platelets: opposite coupling to adenylyl cyclase with different sensitivity to arg60-to-leu mutation. J. Clin. Invest. 97: 949-956, 1996.
[0029524]20112.Nusing, R. M.; Hirata, M.; Kakizuka, A.; Eki, T.; Ozawa, K.; Narumiya, S.: Characterization and chromosomal mapping of the human thromboxane A2 receptor gene. J. Biol. Chem. 268: 25253-25259, 1993.
[0029525]20113.Schwengel, D. A.; Nouri, N.; Meyers, D. A.; Levitt, R. C.: Linkage mapping of the human thromboxane A2 receptor (TBXA2R) to chromosome 19p13.3 using transcribed 3-prime untranslated DNA sequence polymorphisms. Genomics 18: 212-215, 1993.
[0029526]20114.Thomas, D. W.; Mannon, R. B.; Mannon, P. J.; Latour, A.; Oliver, J. A.; Hoffman, M.; Smithies, O.; Koller, B. H.; Coffman, T. M.: Coagulation defects and altered hemodynamic responses in mice lacking receptors for thromboxane A(2). J. Clin. Invest. 102: 1994-2001, 1998.
[0029527]20115.Unoki, M.; Furuta, S.; Onouchi, Y.; Watanabe, O.; Doi, S.; Fujiwara, H.; Miyatake, A.; Fujita, K.; Tamari, M.; Nakamura, Y.: Association studies of 33 single nucleotide polymorphisms (SNPs) in 29 candidate genes for bronchial asthma: positive association a T924C polymorphism in the thromboxane A2 receptor gene. Hum. Genet. 106: 440-446, 2000.
[0029528]20116.Ushikubi, F.; Nakajima, M.; Hirata, M.; Okuma, M.; Fujiwara, M.; Narumiya, S.: Purification of the thromboxane A2/prostaglandin H2 receptor from human blood platelets.. J. Biol. Chem. 264: 16496-16501, 1989.
[0029529]20117.Ushikubi, F.; Okuma, M.; Kanaji, K.; Sugiyama, T.; Ogorochi, T.; Narumiya, S.; Uchino, H.: Hemorrhagic thrombocytopathy with platelet thromboxane A2 abnormality: defective signal transduction with normal binding activity. Thromb. Haemost. 57: 158-164, 1987.
[0029530]20118.Ades, E. W.; Zwerner, R. K.; Acton, R. T.; Balch, C. M.: Isolation and partial characterisation of the human homologue of Thy-1. J. Exp. Med. 151: 400-406, 1980.
[0029531]20119.Bonewald, L.; Ades, E. W.; Tung, E.; Marchalonis, J. J.; Wang, A. C.: Biochemical characterization of human Thy-1. J. Immunogenet. 11: 283-296, 1984.
[0029532]20120.Gatti, R. A.; Lathrop, G. M.; Salser, W.; Silver, J.; Lalouel, J. M.; White, R.: Location of Thy-1 with respect to a primary linkage map of chromosome 11q. (Abstract) Cytogenet. Cell Genet. 46: 618 only, 1987.
[0029533]20121.Gatti, R. A.; Shaked, R.; Wei, S.; Koyama, M.; Salser, W.; Silver, J.: DNA polymorphism in the human Thy-1 gene. Hum. Immun. 22: 145-150, 1988.
[0029534]20122.Greenspan, R. J.; O'Brien, M. C.: Genetic evidence for the role of Thy-1 in neurite outgrowth in the mouse. J. Neurogenet. 5: 25-36, 1989.
[0029535]20123.Grzeschik, K.-H.; Kazazian, H. H.: Report of the committee on the genetic constitution of chromosomes 10, 11, and 12. Cytogenet. Cell Genet. 40: 179-205, 1985.
[0029536]20124.Letarte-Muirhead, M.; Barclay, A. N.; Williams, A. F.: Purification of the Thy-1 molecule, a major cell surface glycoprotein of rat thymocytes. Biochem. J. 151: 685-697, 1975.
[0029537]20125.Mansour, M. H.; Negm, H. I.; Cooper, E. L.: Thy-1 evolution. Dev. Comp. Immun. 11: 3-15, 1987.
[0029538]20126.McKenzie, J. L.; Fabre, J. W.: Human Thy-1: unusual localization and possible functional significance in lymphoid tissues. J. Immun. 126: 843-850, 1981.
[0029539]20127.Morris, R.: Thy-1 in developing nervous tissue. Dev. Neurosci. 7: 133-160, 1985.
[0029540]20128.Raff, M. C.: Surface antigenic markers for distinguishing T and B lymphocytes in mice. Transplant. Rev. 6: 52-80, 1971.
[0029541]20129.Rettig, W. J.; Dracopoli, N. C.; Chesa, P. G.; Spengler, B. A.; Beresford, H. R.; Davies, P.; Biedler, J. L.; Old, L. J.: Role of human chromosome 11 in determining surface antigenic phenotype of normal and malignant cells: somatic cell genetic analysis of eight antigens, including putative human Thy-1. J. Exp. Med. 162: 1603-1619, 1985.
[0029542]20130.Rettig, W. J.; Dracopoli, N. C.; Silver, J.; Old, L. J.: Human THY-1: regional mapping on chromosome 11 and comparison with other chromosome 11-encoded cell surface glycoproteins. (Abstract) Cytogenet. Cell Genet. 40: 731 only, 1985.
[0029543]20131.Rettig, W. J.; Dracopoli, N. C.; Spengler, B. A.; Biedler, J. L.; Old, L. J.: Somatic cell genetic analysis of human cell surface antigens, including putative human Thy-1: eight distinct antigenic systems controlled by chromosome 11. (Abstract) Cytogenet. Cell Genet. 40: 732 only, 1985.
[0029544]20132.Seki, T.; Spurr, N.; Obata, F.; Goyert, S.; Goodfellow, P.; Silver, J.: The human Thy-1 gene: structure and chromosomal location. Proc. Nat. Acad. Sci. 82: 6657-6661, 1985.
[0029545]20133.Tse, A. G. D.; Barclay, A. N.; Watts, A.; Williams, A. F.: A glycophospholipid tail at the carboxyl terminus of the Thy-1 glycoprotein of neurons and thymocytes. Science 230: 1003-1008, 1985.
[0029546]20134.Chen, Z.; Friedrich, G. A.; Soriano, P.: Transcriptional enhancer factor 1 disruption by a retroviral gene trap leads to heart defects and embryonic lethality in mice. Genes Dev. 8: 2293-2301, 1994.
[0029547]20135.Aso, T.; Tsai, P.; Kawaguchi, T.; Menninger, J. C.; Kitajima, S.; Yasukochi, Y.; Ward, D. C.; Weissman, S. M.: Assignment of the human GTF2F1 gene to chromosome 19p13.3. Genomics 16: 252-253, 1993.
[0029548]20136.Aso, T.; Vasavada, H. A.; Kawaguchi, T.; Germino, F. J.; Ganguly, S.; Kitajima, S.; Weissman, S. M.; Yasukochi, Y.: Characterization of cDNA for the large subunit of the transcription initiation factor TFIIF. Nature 355: 461-464, 1992.
[0029549]20137.Finkelstein, A.; Kostrub, C. F.; Li, J.; Chavez, D. P.; Wang, B. Q.; Fang, S. M.; Greenblatt, J.; Burton, Z. F.: A cDNA encoding RAP74, a general initiation factor for transcription by RNA polymerase II. Nature 355: 464-467, 1992.
[0029550]20138.Joliot, V.; Demma, M.; Prywes, R.: Interaction with RAP74 subunit of TFIIF is required for transcriptional activation by serum response factor. Nature 373: 632-635, 1995.
[0029551]20139.Sopta, M.; Burton, Z. F.; Greenblatt, J.: Structure and associated DNA-helicase activity of a general transcription initiation factor that binds to RNA polymerase II. Nature 341: 410-414, 1989.
[0029552]20140.Field, S. J.; Tsai, F.-Y.; Kuo, F.; Zubiaga, A. M.; Kaelin, W. G., Jr.; Livingston, D. M.; Orkin, S. H.; Greenberg, M. E.: E2F-1 functions in mice to promote apoptosis and suppress proliferation. Cell 85: 549-561, 1996.
[0029553]20141.Helin, K.; Lees, J. A.; Vidal, M.; Dyson, N.; Harlow, E.; Fattaey, A.: A cDNA encoding a pRB-binding protein with properties of the transcription factor E2F. Cell 70: 337-350, 1992.
[0029554]20142.Irwin, M.; Marin, M. C.; Phillips, A. C.; Seelan, R. S.; Smith, D. I.; Liu, W.; Flores, E. R.; Tsai, K. Y.; Jacks, T.; Vousden, K. H.; Kaelin, W. G., Jr.: Role for the p53 homologue p73 in E2F-1-induced apoptosis. Nature 407: 645-648, 2000.
[0029555]20143.Jacks, T.; Fazeli, A.; Schmitt, E. M.; Bronson, R. T.; Goodell, M. A.; Weinberg, R. A.: Effects of an Rb mutation in the mouse. Nature 359: 295-300, 1992.
[0029556]20144.Lees, J. A.; Saito, M.; Valentine, M.; Look, T.; Harlow, E.; Dyson, N.; Helin, K.: The retinoblastoma protein binds to a family of E2F transcription factors. Molec. Cell. Biol. 13: 7813-7825, 1993.
[0029557]20145.Leone, G.; Sears, R.; Huang, E.; Rempel, R.; Nuckolls, F.; Park, C.-H.; Giangrande, P.; Wu, L.; Saavedra, H. I.; Field, S. J.; Thompson, M. A.; Yang, H.; Fujiwara, Y.; Greenberg, M. E.; Orkin, S.; Smith, C.; Nevins, J. R.: Myc requires distinct E2F activities to induce S phase and apoptosis. Molec. Cell 8: 105-113, 2001.
[0029558]20146.Lissy, N. A.; Davis, P. K.; Irwin, M.; Kaelin, W. G.; Dowdy, S. F.: A common E2F-1 and p73 pathway mediates cell death induced by TCR activation. Nature 407: 642-645, 2000.
[0029559]20147.Neuman, E.; Sellers, W. R.; McNeil, J. A.; Lawrence, J. B.; Kaelin, W. G., Jr.: Structure and partial genomic sequence of the human E2F1 gene. Gene 173: 163-169, 1996.
[0029560]20148.Nevins, J. R.: The Rb/E2F pathway and cancer. Hum. Molec. Genet. 10: 699-703, 2001.
[0029561]20149.Nevins, J. R.: E2F: a link between the Rb tumor suppressor protein and viral oncoproteins. Science 258: 424-429, 1992.
[0029562]20150.Ohtani, K.; DeGregori, J.; Nevins, J. R.: Regulation of the cyclin E gene by transcription factor E2F1. Proc. Nat. Acad. Sci. 92: 12146-12150, 1995.
[0029563]20151.Arden, K. C.; Boutin, J.-M.; Djiane, J.; Kelly, P. A.; Cavenee, W. K.: The receptors for prolactin and growth hormone are localized in the same region of human chromosome 5. Cytogenet. Cell Genet. 53: 161-165, 1990.
[0029564]20152.Arden, K. C.; Cavenee, W. K.; Boutin, J.-M.; Kelly, P. A.: The genes encoding the receptors for prolactin and growth hormone map to human chromosome 5. (Abstract) Am. J. Hum. Genet. 45 (suppl.): A129 only, 1989.
[0029565]20153.Kelly, A.; Powis, S. H.; Glynne, R.; Radley, E.; Beck, S.; Trowsdale, J.: Second proteasome-related gene in the human MHC class II region. Nature 353: 667-668, 1991.
[0029566]20154.Martinez, C. K.; Monaco, J. J.: Homology of proteasome subunits to a major histocompatibility complex-linked LMP gene. Nature 353: 664-667, 1991.
[0029567]20155.Petes, T. D.: Meiotic recombination hot spots and cold spots. Nature Rev. Genet. 2: 360-369, 2001.
[0029568]20156.Van Kaer, L.; Ashton-Rickardt, P. G.; Eichelberger, M.; Gaczynska, M.; Nagashima, K.; Rock, K. L.; Goldberg, A. L.; Doherty, P. C.; Tonegawa, S.: Altered peptidase and viral-specific T cell response in LMP2 mutant mice. Immunity 1: 533-541, 1994.
[0029569]20157.Zhou, P.; Zanelli, E.; Smart, M.; David, C.: Genomic organization and tissue expression of mouse proteasome gene Lmp-2. Genomics 16: 664-668, 1993.
[0029570]20158.Deng, G. Y.; Muir, A.; Maclaren, N. K.; She, J.-X.: Association of LMP2 and LMP7 genes within the major histocompatibility complex with insulin-dependent diabetes mellitus: population and family studies. Am. J. Hum. Genet. 56: 528-534, 1995.
[0029571]20159.Bouhassira, E. E.; Schwartz, R. S.; Yawata, Y.; Ata, K.; Kanzaki, A.; Qui, J. J.-H.; Nagel, R. L.; Rybicki, A. C.: An alanine-to-threonine substitution in protein 4.2 cDNA is associated with a Japanese form of hereditary hemolytic anemia (protein 4.2-Nippon). Blood 79: 1846-1854, 1992.
[0029572]20160.Doolittle, R. F.; Hunkapiller, M. W.; Hood, L. E.; Devare, S. G.; Robbins, K. C.; Aaronson, S. A.; Antoniades, H. N.: Simian sarcoma virus onc gene, v-sis, is derived from the gene (or genes) encoding a platelet-derived growth factor. Science 221: 275-277, 1983.
[0029573]20161.Frolova, L. Y.; Sudomoina, M. A.; Grigorieva, A. Y.; Zinovieva, O. L.; Kisselev, L. L.: Cloning and nucleotide sequence of the structural gene encoding for human tryptophanyl-tRNA synthetase. Gene 109: 291-296, 1991.
[0029574]20162.Vassart, G.: Personal Communication. Brussels, Belgium 1/15/1992.
[0029575]20163.Wenger, G. D.: Personal Communication. Columbus, Ohio 8/3/1993.
[0029576]20164.Abbes, A. P.; Bruggeman, B.; van den Akker, E. L. T.; de Groot, M. R.; Franken, A. A. M.; Drexhage, V. R.; Engel, H.: Identification of two distinct mutations at the same nucleotide position, concomitantly with a novel polymorphism in the vasopressin-neurophysin II gene (AVP-NP II) in two Dutch families with familial neurohypophyseal diabetes insipidus. Clin. Chem. 46: 1699-1702, 2000.
[0029577]20165.Bahnsen, U.; Oosting, P.; Swaab, D. F.; Nahke, P.; Richter, D.; Schmale, H.: A missense mutation in the vasopressin-neurophysin precursor gene cosegregates with human autosomal dominant neurohypophyseal diabetes insipidus. EMBO J. 11: 19-23, 1992.
[0029578]20166.Calvo, B.; Bilbao, J. R.; Rodriguez, A.; Rodriguez-Arnao, M. D.; Castano, L.: Molecular analysis in familial neurohypophyseal diabetes insipidus: early diagnosis of an asymptomatic carrier. J. Clin. Endocr. Metab. 84: 3351-3354, 1999.
[0029579]20167.Calvo, B.; Bilbao, J. R.; Urrutia, I.; Eizaguirre, J.; Gaztambide, S.; Castano, L.: Identification of a novel nonsense mutation and a missense substitution in the vasopressin-neurophysin II gene in two Spanish kindreds with familial neurohypophyseal diabetes insipidus. J. Clin. Endocr. Metab. 83: 995-997, 1998.
[0029580]20168.Doherty-Fuller, E.; Copeland, K. C.: Sweat tests in patients with diabetes insipidus. Clin. Pediat. 27: 330-332, 1988.
[0029581]20169.Evans, D. A. P.; van der Kleij, A. A. M.; Sonnemans, M. A. F.; Burbach, J. P. H.; van Leeuwen, F. W.: Frameshift mutations at two hotspots in vasopressin transcripts in post-mitotic neurons. Proc. Nat. Acad. Sci. 91: 6059-6063, 1994.
[0029582]20170.Gagliardi, P. C.; Bernasconi, S.; Repaske, D. R.: Autosomal dominant neurohypophyseal diabetes insipidus associated with a missense mutation encoding gly(23) to val in neurophysin II. J. Clin. Endocr. Metab. 82: 3643-3646, 1997.
[0029583]20171.Ganz, M. B.; Boyarsky, G.; Sterzel, R. B.; Boron, W. F.: Arginine vasopressin enhances pH(i) regulation in the presence of HCO-(3) by stimulating three acid-base transport systems. Nature 337: 648-651, 1989.
[0029584]20172.Grant, F. D.; Ahmadi, A.; Hosley, C. M.; Majzoub, J. A.: Two novel mutations of the vasopressin gene associated with familial diabetes insipidus and identification of an asymptomatic carrier infant. J. Clin. Endocr. Metab. 83: 3958-3964, 1998.
[0029585]20173.Heppner, C.; Kotzka, J.; Bullmann, C.; Krone, W.; Muller-Wieland, D.: Identification of mutations of the arginine vasopressin-neurophysin II gene in two kindreds with familial central diabetes insipidus. J. Clin. Endocr. Metab. 83: 693-696, 1998.
[0029586]20174.Ito, M.; Jameson, J. L.; Ito, M.: Molecular basis of autosomal dominant neurohypophyseal diabetes insipidus: cellular toxicity caused by the accumulation of mutant vasopressin precursors within the endoplasmic reticulum. J. Clin. Invest. 99: 1897-1905, 1997.
[0029587]20175.Ito, M.; Mori, Y.; Oiso, Y.; Saito, H.: A single base substitution in the coding region for neurophysin II associated with familial central diabetes insipidus. J. Clin. Invest. 87: 725-728, 1991.
[0029588]20176.Ito, M.; Oiso, Y.; Murase, T.; Kondo, K.; Saito, H.; Chinzei, T.; Racchi, M.; Lively, M. O.: Possible involvement of inefficient cleavage of preprovasopressin by signal peptidase as a cause for familial central diabetes insipidus. J. Clin. Invest. 91: 2565-2571, 1993.
[0029589]20177.Korbonits, M.; Kaltsas, G.; Perry, L. A.; Putignano, P.; Grossman, A. B.; Besser, G. M.; Trainer, P. J.: The growth hormone secretagogue hexarelin stimulates the hypothalamo-pituitaryadrenal axis via arginine vasopressin. J. Clin. Endocr. Metab. 84: 2489-2495, 1999.
[0029590]20178.Krishnamani, M. R. S.; Phillips, J. A., III; Copeland, K. C.: Detection of a novel arginine vasopressin defect by dideoxy fingerprinting. J. Clin. Endocr. Metab. 77: 596-598, 1993.
[0029591]20179.Land, H.; Schutz, G.; Schmale, H.; Richter, D.: Nucleotide sequence of cloned cDNA encoding bovine arginine vasopressin-neurophysin II precursor. Nature 295: 299-303, 1982.
[0029592]20180.Mahoney, C. P.; Weinberger, E.; Bryant, C.; Ito, M.; Jameson, J. L.; Ito, M.: Effects of aging on vasopressin production in a kindred with autosomal dominant neurohypophyseal diabetes insipidus due to the delta-E47 neurophysin mutation. J. Clin. Endocr. Metab. 87: 870-876, 2002.
[0029593]20181.McLeod, J. F.; Kovacs, L.; Gaskill, M. B.; Rittig, S.; Bradley, G. S.; Robertson, G. L.: Familial neurohypophyseal diabetes insipidus associated with a signal peptide mutation. J. Clin. Endocr. Metab. 77: 599A-599G, 1993.
[0029594]20182.Gardner, T. L.; Elston, D. M.; Wotowic, P. J.: A familial dermatofibrosarcoma protuberans. J. Am. Acad. Derm. 39: 504-505, 1998.
[0029595]20183.Groffen, J.; Heisterkamp, N.; Stephenson, J. R.; Geurts van Kessel, A.; de Klein, A.; Grosveld, G.; Bootsma, D.: c-sis is translocated from chromosome 22 to chromosome 9 in chronic myelocytic leukemia. J. Exp. Med. 158: 9-15, 1983.
[0029596]20184.Hermansson, M.; Nister, M.; Betsholtz, C.; Heldin, C.-H.; Westermark, B.; Funa, K.: Endothelial cell hyperplasia in human glioblastoma: coexpression of mRNA for platelet-derived growth factor (PDGF) B chain and PDGF receptor suggests autocrine growth stimulation. Proc. Nat. Acad. Sci. 85: 7748-7752, 1988.
[0029597]20185.Josephs, S. F.; Dalla-Favera, R.; Gelmann, E. P.; Gallo, R. C.; Wong-Staal, F.: 5-prime viral and human cellular sequences corresponding to the transforming gene of simian sarcoma virus. Science 219: 503-505, 1983.
[0029598]20186.Josephs, S. F.; Guo, C.; Ratner, L.; Wong-Staal, F.: Human proto-oncogene nucleotide sequences corresponding to the transforming region of simian sarcoma virus. Science 223: 487-491, 1984.
[0029599]20187.Josephs, S. F.; Ratner, L.; Clarke, M. F.; Westin, E. H.; Reitz, M. S.; Wong-Staal, F.: Transforming potential of human c-sis nucleotide sequences encoding platelet-derived growth factor. Science 225: 636-639, 1984.
[0029600]20188.Kelly, J. D.; Raines, E. W.; Ross, R.; Murray, M. J.: The B chain of PDGF alone is sufficient for mitogenesis. EMBO J. 4: 3399-3405, 1985.
[0029601]20189.Kiuru-Kuhlefelt, S.; El-Rifai, W.; Fanburg-Smith, J.; Kere, J.; Miettinen, M.; Knuutila, S.: Concomitant DNA copy number amplification at 17q and 22q in dermatofibrosarcoma protuberans. Cytogenet. Cell Genet. 92: 192-195, 2001.
[0029602]20190.Kozak, C. A.; Sears, J. F.; Hoggan, M. D.: Genetic mapping of the mouse protooncogene c-sis to chromosome 15. Science 221: 867-869, 1983.
[0029603]20191.Lindahl, P.; Johansson, B. R.; Leveen, P.; Betsholtz, C.: Pericyte loss and microaneurysm formation in PDGF-B-deficient mice. Science 277: 242-245, 1997.
[0029604]20192.Owen, A. J.; Pantazis, P.; Antoniades, H. N.: Simian sarcoma virus-transformed cells secrete a mitogen identical to platelet-derived growth factor. Science 225: 54-56, 1984.
[0029605]20193.Rao, C. D.; Igarashi, H.; Chiu, I.-M.; Robbins, K. C.; Aaronson, S. A.: Structure and sequence of the human c-sis/platelet-derived growth factor 2 (SIS/PDGF2) transcriptional unit. Proc. Nat. Acad. Sci. 83: 2392-2396, 1986.
[0029606]20194.Robbins, K. C.; Antoniades, H. N.; Devare, S. G.; Hunkapiller, M. W.; Aaronson, S. A.: Structural and immunological similarities between simian sarcoma virus gene product(s) and human platelet-derived growth factor. Nature 305: 605-608, 1983.
[0029607]20195.Robbins, K. C.; Devare, S. G.; Reddy, E. P.; Aaronson, S. A.: In vivo identification of the transforming gene product of simian sarcoma virus. Science 218: 1131-1133, 1982.
[0029608]20196.Simon, M.-P.; Navarro, M.; Roux, D.; Pouyssegur, J.: Structural and functional analysis of a chimeric protein COL1A1-PDGFB generated by the translocation t(17;22)(q22;q13.1) in dermatofibrosarcoma protuberans (DP). Oncogene 20: 2965-2975, 2001.
[0029609]20197.Smidt, M.; Kirsch, I.; Ratner, L.: Deletion of Alu sequences in the fifth c-sis intron in individuals with meningiomas. J. Clin. Invest. 86: 1151-1157, 1990.
[0029610]20198.Turc-Carel, C.; Philip, I.; Berger, M. P.; Philip, T.; Lenoir, G. M.: Chromosomal translocations in Ewing's sarcoma. (Letter) New Eng. J. Med. 309: 497-498, 1983.
[0029611]20199.Shimizu, A.; O'Brien, K. P.; Sjoblom, T.; Pietras, K.; Buchdunger, E.; Collins, V. P.; Heldin, C.-H.; Dumanski, J. P.; Ostman, A.: The dermatofibrosarcoma protuberans-associated collagen type I-alpha-1/platelet-derived growth factor (PDGF) beta-chain fusion gene generates a transforming protein that is processed to functional PDGF-BB. Cancer Res. 59: 3719-3723, 1999.
[0029612]20200.Simon, M.-P.; Pedeutour, F.; Sirvent, N.; Grosgeorge, J.; Minoletti, F.; Coindre, J.-M.; Terrier-Lacombe, M.-J.; Mandahl, N.; Craver, R. D.; Blin, N.; Sozzi, G.; Turc-Carel, C.; O'Brien, K. P.; Kedra, D.; Fransson, I.; Guilbaud, C.; Dumanski, J. P.: Deregulation of the platelet-derived growth factor B-chain gene via fusion with collagen gene COL1A1 in dermatofibrosarcoma protuberans and giant-cell fibroblastoma. Nature Genet. 15: 95-98, 1997.
[0029613]20201.Waterfield, M. D.; Scrace, G. T.; Whittle, N.; Stroobant, P.; Johnsson, A.; Wasteson, A.; Westermark, B.; Heldin, C.-H.; Huang, J. S.; Deuel, T. F.: Platelet-derived growth factor is structurally related to the putative transforming protein p28(sis) of simian sarcoma virus. Nature 304: 35-39, 1983.
[0029614]20202.Graphodatsky, A.; Frolova, L.; Biltueva, L.; Eremina, V.; Lushnikova, T.; Sudomoina, M.; Zinovieva, O.; Kisselev, L.: Localization of the tryptophanyl tRNA synthetase gene (WARS) on human and bovine chromosomes by in situ hybridization. Mammalian Genome 4: 183-184, 1993.
[0029615]20203.Jensen, L. L.; Nielsen, M. M.; Justesen, J.; Hansen, L. L.: Assignment of human NADH dehydrogenase (ubiquinone) 1 beta subcomplex 3 (NDUFB3) and of its four pseudogenes to human chromosomes 2q31.3, 1p13.3-p13.1, 9q32-q34.1, 14q22.3-q23.1 and 14q32.2 by radiation hybrid mapping. Cytogenet. Cell Genet. 93: 147-150, 2001.
[0029616]20204.Otani, A.; Slike, B. M.; Dorrell, M. I.; Hood, J.; Kinder, K.; Ewalt, K. L.; Cheresh, D.; Schimmel, P.; Friedlander, M.: A fragment of human TrpRS as a potent antagonist of ocular angiogenesis. Proc. Nat. Acad. Sci. 99: 178-183, 2002.
[0029617]20205.Shimizu, N.; Kucherlapati, R. S.; Ruddle, F. H.: Assignment of a human gene for tryptophanyl-tRNA synthetase to chromosome 14 using human-mouse somatic cell hybrids. Somat. Cell Genet. 2: 345-357, 1976.
[0029618]20206.Tolstrup, A. B.; Bejder, A.; Fleckner, J.; Justesen, J.: Transcriptional regulation of the interferon-gamma-inducible tryptophanyl-tRNA synthetase includes alternative splicing. J. Biol. Chem. 270: 397-403, 1995.
[0029619]20207.Turpaev, K. T.; Zakhariev, V. M.; Sokolova, I. V.; Narovlyansky, A. N.; Amchenkova, A. M.; Justesen, J.; Frolova, L. Y.: Alternative processing of the tryptophanyl-tRNA synthetase mRNA from interferon-treated human cells. Europ. J. Biochem. 240: 732-737, 1996.
[0029620]20208.Wakasugi, K.; Slike, B. M.; Hood, J.; Otani, A.; Ewalt, K. L.; Friedlander, M.; Cheresh, D. A.; Schimmel, P.: A human aminoacyl-tRNA synthetase as a regulator of angiogenesis. Proc. Nat. Acad. Sci. 99: 173-177, 2002.
[0029621]20209.Comings, D. E.; Comings, B. G.; Dietz, G.; Muhleman, D.: Localization of human tryptophan oxygenase to 4q31: possible relevance to alcoholism, depression and Tourette syndrome. (Abstract) Am. J. Hum. Genet. 45 (suppl.): A135 only, 1989.
[0029622]20210.Comings, D. E.; Dietz, G.; Muhlman, D.: Localization of human tryptophan oxygenase to 4q25-q31. (Abstract) Cytogenet. Cell Genet. 51: 979 only, 1989.
[0029623]20211.Comings, D. E.; Muhleman, D.; Dietz, G.; Sherman, M.; Forest, G. L.: Sequence of human tryptophan 2,3-dioxygenase (TDO2): presence of a glucocorticoid response-like element composed of a GTT repeat and an intronic CCCCT repeat. Genomics 29: 390-396, 1995.
[0029624]20212.Comings, D. E.; Muhleman, D.; Dietz, G. W., Jr.; Donlon, T.: Human tryptophan oxygenase localized to 4q31: possible implications for alcoholism and other behavioral disorders. Genomics 9: 301-308, 1991.
[0029625]20213.Donlon, T. A.; Muhleman, D.; Dietz, G.; Comings, D. E.; Spak, D. K.: Localization of human tryptophan oxygenase to 4q31-q32 by in situ hybridization. (Abstract) Cytogenet. Cell Genet. 51: 992 only, 1989.
[0029626]20214.Miller, J. S.; Moxley, G.; Schwartz, L. B.: Cloning and characterization of a second complementary DNA for human tryptase. J. Clin. Invest. 86: 864-870, 1990.
[0029627]20215.Miller, J. S.; Westin, E. H.; Schwartz, L. B.: Cloning and characterization of complementary DNA for human tryptase. J. Clin. Invest. 84: 1188-1195, 1989.
[0029628]20216.Vanderslice, P.; Ballinger, S. M.; Tam, E. K.; Goldstein, S. M.; Craik, C. S.; Caughey, G. H.: Human mast cell tryptase: multiple cDNAs and genes reveal a multigene serine protease family. Proc. Nat. Acad. Sci. 87: 3811-3815, 1990.
[0029629]20217.Lewis, W. H.; Yeger, H.: Characterization of the aniridia-Wilms tumor association region of chromosome 11. (Abstract) Cytogenet. Cell Genet. 46: 650, 1987.
[0029630]20218.Mach, B.; Steimle, V.; Reith, W.: MHC class II-deficient combined immunodeficiency: a disease of gene regulation. Immun. Rev. 138: 207-221, 1994.
[0029631]20219.Little, M.; Holmes, G.; Bickmore, W.; van Heyningen, V.; Hastie, N.; Wainwright, B.: DNA binding capacity of the WT1 protein is abolished by Denys-Drash syndrome WT1 point mutations. Hum. Molec. Genet. 4: 351-358, 1995.
[0029632]20220.Little, M. H.; Williamson, K. A.; Mannens, M.; Kelsey, A.; Gosden, C.; Hastie, N. D.; van Heyningen, V.: Evidence that WT1 mutations in Denys-Drash syndrome patients may act in a dominant-negative fashion. Hum. Molec. Genet. 2: 259-264, 1993.
[0029633]20221.Mannens, M.; Slater, R. M.; Heyting, C.; Bliek, J.; de Kraker, J.; Coad, N.; de Pagter-Holthuizen, P.; Pearson, P. L.: Molecular nature of genetic changes resulting in loss of heterozygosity of chromosome 11 in Wilms' tumours. Hum. Genet. 81: 41-48, 1988.
[0029634]20222.Marshall, L. S.; Qureshi, A. R.; DiGeorge, A. M.; Kistenmacher, M. L.; Punnett, H. H.: Aniridia and the 11p13 deletion. (Abstract) Am. J. Hum. Genet. 34: 74A, 1982.
[0029635]20223.Matsunaga, E.: Genetics of Wilms' tumor. Hum. Genet. 57: 231-246, 1981.
[0029636]20224.McCoy, F. E., Jr.; Franklin, W. A.; Aronson, A. J.; Spargo, B. H.: Glomerulonephritis associated with male pseudohermaphroditism and nephroblastoma. Am. J. Surg. Path. 7: 387-395, 1983.
[0029637]20225.Meadows, A. T.; Lichtenfeld, J. L.; Koop, C. E.: Wilms' tumor in three children of a woman with congenital hemihypertrophy. New Eng. J. Med. 291: 23-24, 1974.
[0029638]20226.Michalopoulos, E. E.; Bevilacqua, P. J.; Stokoe, N.; Powers, V. E.; Willard, H. F.; Lewis, W. H.: Molecular analysis of gene deletion in aniridia--Wilms tumor association. Hum. Genet. 70: 157-162, 1985.
[0029639]20227.Miller, R. W.; Fraumeni, J. F., Jr.; Manning, M. D.: Association of Wilms' tumor with aniridia, hemihypertrophy and other congenital malformations. New Eng. J. Med. 270: 922-927, 1964.
[0029640]20228.Miyagawa, K.; Kent, J.; Moore, A.; Charlieu, J.-P.; Little, M. H.; Williamson, K. A.; Kelsey, A.; Brown, K. W.; Hassam, S.; Briner, J.; Hayashi, Y.; Hirai, H.; Yazaki, Y.; van Heyningen, V.; Hastie, N. D.: Loss of WT1 function leads to ectopic myogenesis in Wilms' tumour. (Letter) Nature Genet. 18: 15-17, 1998.
[0029641]20229.Nakagome, Y.; Ise, T.; Sakurai, M.; Nakajo, T.; Okamoto, E.; Takano, T.; Nakahori, Y.; Tsuchida, Y.; Nagahara, N.; Takada, Y.; Ohsawa, Y.; Sawaguchi, S.; Toyosaka, A.; Kobayashi, N.; Matsunaga, E.; Saito, S.: High-resolution studies in patients with aniridia-Wilms tumor association, Wilms tumor or related congenital abnormalities. Hum. Genet. 67: 245-248, 1984.
[0029642]20230.Neidhardt, M.: Wilms-tumor und Aniridie--ein genetisch fixiertes Syndrome? Klin. Paediat. 184: 312-316, 1972.
[0029643]20231.Nordenskjold, A.; Fricke, G.; Anvret, M.: Absence of mutations in the WT1 gene in patients with XY gonadal dysgenesis. Hum. Genet. 96: 102-104, 1995.
[0029644]20232.Orkin, S. H.; Goldman, D. S.; Sallan, S. E.: Development of homozygosity for chromosome 11p markers in Wilms' tumour. Nature 309: 172-174, 1984.
[0029645]20233.Park, S.; Bernard, A.; Bove, K. E.; Sens, D. A.; Hazen-Martin, D. J.; Garvin, A. J.; Haber, D. A.: Inactivation of WT1 in nephrogenic rests, genetic precursors to Wilms' tumour. Nature Genet. 5: 363-367, 1993.
[0029646]20234.Park, S.; Tomlinson, G.; Nisen, P.; Haber, D. A.: Altered trans-activational properties of a mutated WT1 gene product in a WAGR-associated Wilms' tumor. Cancer Res. 53: 4757-4760, 1993.
[0029647]20235.Puissant, H.; Azoulay, M.; Serre, J.-L.; Piet, L.; Junien, C. : Molecular analysis of a reciprocal translocation t(5;11)(q11;p13) in a WAGR patient. Hum. Genet. 79: 280-282, 1988.
[0029648]20236.Rahman, N.; Arbour, L.; Tonin, P.; Renshaw, J.; Pelletier, J.; Baruchel, S.; Pritchard-Jones, K.; Stratton, M. R.; Narod, S. A.: Evidence for a familial Wilms' tumour gene (FWT1) on chromosome 17q12-q21. Nature Genet. 13: 461-463, 1996.
[0029649]20237.Reeve, A. E.; Housiaux, P. J.; Gardner, R. J. M.; Chewings, W. E.; Grindley, R. M.; Millow, L. J.: Loss of a Harvey ras allele in sporadic Wilms' tumour. Nature 309: 174-176, 1984.
[0029650]20238.Riccardi, V. M.; Hittner, H. M.; Strong, L. C.; Fernbach, D. J.; Lebo, R.; Ferrell, R. E.: Wilms tumor with aniridia/iris dysplasia and apparently normal chromosomes. J. Pediat. 100: 574-577, 1982.
[0029651]20239.Patek, C. E.; Little, M. H.; Fleming, S.; Miles, C.; Charlieu, J.-P.; Clarke, A. R.; Miyagawa, K.; Christie, S.; Doig, J.; Harrison, D. J.; Porteous, D. J.; Brookes, A. J.; Hooper, M. L.; Hastie, N. D.: A zinc finger truncation of murine WT1 results in the characteristic urogenital abnormalities of Denys-Drash syndrome. Proc. Nat. Acad. Sci. 96: 2931-2936, 1999.
[0029652]20240.Riccardi, V. M.; Sujansky, E.; Smith, A. C.; Francke, U.: Chromosomal imbalance in the aniridia--Wilms' tumor association: 11p interstitial deletion. Pediatrics 61: 604-610, 1978.
[0029653]20241.Salazar, H.; Kanbour, A.; Burgess, F.: Ultrastructure and observations on the histogenesis of mesotheliomas 'adenomatoid tumors' of the female genital tract. Cancer 29: 141-152, 1972.
[0029654]20242.Schmickel, R. D.: Chromosomal deletions and enzyme deficiencies. J. Pediat. 108: 244-246, 1986.
[0029655]20243.Schroeder, W. T.; Chao, L.-Y.; Dao, D. D.; Strong, L. C.; Pathak, S.; Riccardi, V.; Lewis, W. H.; Saunders, G. F.: Nonrandom loss of maternal chromosome 11 alleles in Wilms tumors. Am. J. Hum. Genet. 40: 413-420, 1987.
[0029656]20244.Schumacher, V.; Schneider, S.; Figge, A.; Wildhardt, G.; Harms, D.; Schmidt, D.; Weirich, A.; Ludwig, R.; Royer-Pokora, B.: Correlation of germ-line mutations and two-hit inactivation of the WT1 gene with Wilms tumors of stromal-predominant histology. Proc. Nat. Acad. Sci. 94: 3972-3977, 1997.
[0029657]20245.Babcock, M.; de Silva, D.; Oaks, R.; Davis-Kaplan, S.; Jiralerspong, S.; Montermini, L.; Pandolfo, M.; Kaplan, J.: Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin. Science 276: 1709-1712, 1997.
[0029658]20246.Bidichandani, S. I.; Ashizawa, T.; Patel, P. I.: The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure. Am. J. Hum. Genet. 62: 111-121, 1998.
[0029659]20247.Bidichandani, S. I.; Ashizawa, T.; Patel, P. I.: Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion. (Letter) Am. J. Hum. Genet. 60: 1251-1256, 1997.
[0029660]20248.Cavadini, P.; Gellera, C.; Patel, P. I.; Isaya, G.: Human frataxin maintains mitochondrial iron homeostasis in Saccharomyces cerevisiae. Hum. Molec. Genet. 9: 2523-2530, 2000.
[0029661]20249.MacPherson, A. I. S.; Richmond, J.; Donaldson, G. W. K.; Muir, A. R.: The role of the spleen in congenital spherocytosis. Am. J. Med. 50: 35-41, 1971.
[0029662]20250.Masera, G.; Mieli, G.; Petrone, M.; Porcelli, P.: Transient aplastic crisis in hereditary spherocytosis. Acta Haemat. 63: 28-31, 1980.
[0029663]20251.Miraglia del Giudice, E.; Perrotta, S.; Nobili, B.; Specchia, C.; d'Urzo, G.; Iolascon, A.: Coinheritance of Gilbert syndrome increases risk for developing gallstones in patients with hereditary spherocytosis. Blood 94: 2259-2262, 1999.
[0029664]20252.Miwa, S.; Tanaka, K. R.; Valentine, W. N.: Enolase activity of erythrocytes in hereditary spherocytosis. Nature 195: 613-614, 1962.
[0029665]20253.Mohler, D. N.; Wheby, M. S.: Patients with hereditary spherocytosis may have clinically significant iron overload when they are also heterozygous for hemochromatosis. Trans. Am. Clin. Climatol. Assoc. 96: 34-40, 1984.
[0029666]20254.Mohler, D. N.; Wheby, M. S.: Hemochromatosis heterozygotes may have significant iron overload when they also have hereditary spherocytosis. Am. J. Med. Sci. 292: 320-324, 1986.
[0029667]20255.Moiseyev, V. S.; Korovina, E. A.; Polotskaya, E. L.; Poliyanskaya, I. S.; Yazdovsky, V. V.: Hypertrophic cardiomyopathy associated with hereditary spherocytosis in three generations of one family.(Letter) Lancet II: 853-854, 1987.
[0029668]20256.Morton, N. E.; MacKinney, A. A.; Kosower, N. S.; Schilling, R. F.; Gray, M. P.: Genetics of spherocytosis. Am. J. Hum. Genet. 14: 170-184, 1962.
[0029669]20257.Motulsky, A. G.; Anderson, R.; Sparkes, R. S.; Huestis, R. H. : Marrow transplantation in newborn mice with hereditary spherocytosis. A model system. Trans. Assoc. Am. Phys. 75: 64-72, 1962.
[0029670]20258.Nakashima, K.; Yamauchi, K.; Miwa, S.; Fujimura, K.; Mizutani, A.; Kuramoto, A.: Glutathione reductase deficiency in a kindred with hereditary spherocytosis. Am. J. Hemat. 4: 141-150, 1978.
[0029671]20259.Ng, J.-P.; Cumming, R. L. C.; Horn, E. H.; Hogg, R. B.: Hereditary spherocytosis revealed by human parvovirus infection.(Letter) Brit. J. Haemat. 65: 379-380, 1987.
[0029672]20260.Nozawa, Y.; Noguchi, T.; Iida, H.; Fukushima, H.; Sekiya, T.; Ito, Y.: Erythrocyte membrane of hereditary spherocytosis: alteration in surface ultrastructure and membrane proteins, as inferred by scanning electron microscopy and SDS-disc gel electrophoresis. Clin. Chim. Acta 55: 81-86, 1974.
[0029673]20261.Okamoto, N.; Wada, Y.; Nakamura, Y.; Nakayama, M.; Chiyo, H.; Murayama, K.; Inoue, T.; Kanzaki, A.; Yawata, Y.; Hirono, A.; Miwa, S.: Hereditary spherocytic anemia with deletion of the short arm of chromosome 8. Am. J. Med. Genet. 58: 225-229, 1995.
[0029674]20262.Peretz, E.; Hallel-Halevy, D.; Grunwald, M. H.; Halevy, S.: Hereditary spherocytosis with leg ulcers which healed after splenectomy. Europ. J. Derm. 7: 527-528, 1997.
[0029675]20263.Rao, K. R. P.; Patel, A. R.; Anderson, M. J.; Hodgson, J.; Jones, S. E.; Pattison, J. R.: Infection with parvovirus-like agent and aplastic crisis in adults with chronic hemolytic anemia. Ann. Intern. Med. 98: 930-932, 1983.
[0029676]20264.Reznikoff-Etievant, M. F.; Bonaiti, C.; Maigret, P.; Malvoisin, A.; Maynier, M.; Mesnard, G.; Haupman, G.: Hereditary spherocytosis linkage. Brit. J. Haemat. 46: 153-155, 1980.
[0029677]20265.Sengar, D. P. S.; McLeish, W. A.; Smiley, R. K.; Luke, B.: HLA and hereditary spherocytosis. Vox Sang. 33: 278-279, 1977.
[0029678]20266.Shohet, S. B.: Reconstitution of spectrin-deficient spherocytic mouse erythrocyte membranes. J. Clin. Invest. 64: 483-494, 1979.
[0029679]20267.Stratton, R. F.; Crudo, D. F.; Varela, M.; Shapira, E.: Deletion of the proximal short arm of chromosome 8. Am. J. Med. Genet. 42: 15-18, 1992.
[0029680]20268.Tse, W. T.; Meninger, J.; Ward, D.; John, K.; Lux, S. E.; Forget, B. G.: Genomic cloning and chromosomal sublocalization of the human ankyrin gene.(Abstract) Clin. Res. 38: 266A, 1990.
[0029681]20269.Tsukada, T.; Koike, T.; Koike, R.; Sanada, M.; Takahashi, M.; Shibata, A.; Nunoue, T.: Epidemic of aplastic crisis in patients with hereditary spherocytosis in Japan.(Letter) Lancet 1: 1401, 1985.
[0029682]20270.White, R.; Barker, J.: Normoblastosis, a mutant mouse with severe hemolytic anemia.(Abstract) Blood 70S: 57a, 1987.
[0029683]20271.White, R. A.; Birkenmeier, C. S.; Lux, S. E.; Barker, J. E.: Ankyrin and the hemolytic anemia mutation, nb, map to mouse chromosome 8: presence of the nb allele is associated with a truncated erythrocyte ankyrin. Proc. Nat. Acad. Sci. 87: 3117-3121, 1990.
[0029684]20272.Wiley, J. S.: Co-ordinated increase of sodium leak and sodium pump in hereditary spherocytosis. Brit. J. Haemat. 22: 529-542, 1972.
[0029685]20273.Wiley, J. S.; Firkin, B. G.: An unusual variant of hereditary spherocytosis. Am. J. Med. 48: 63-71, 1970.
[0029686]20274.Zail, S. S.; Krawitz, E.; Viljoen, E.; Kramer, S.; Metz, J.: Atypical hereditary spherocytosis: biochemical studies and sites of erythrocyte destruction. Brit. J. Haemat. 13: 323-334, 1967.
[0029687]20275.Sukhatme, V. P.; Vollmer, A. C.; Erikson, J.; Isobe, M.; Croce, C.; Parnes, J. R.: Gene for the human T cell differentiation antigen Leu-2/T8 is closely linked to the kappa light chain locus on chromosome 2. J. Exp. Med. 161: 429-434, 1985.
[0029688]20276.Traver, D.; Akashi, K.; Manz, M.; Merad, M.; Miyamoto, T.; Engleman, E. G.; Weissman, I. L.: Development of CD8-alpha-positive dendritic cells from a common myeloid progenitor. Science 290: 2152-2154, 2000.
[0029689]20277.Weichhold, G. M.; Huber, C.; Parnes, J. R.; Zachau, H. G.: The CD8-alpha locus is located on the telomere side of the immunoglobulin-kappa locus at a distance of 2 Mb. Genomics 16: 512-514, 1993.
[0029690]20278.Angel, J. M.; Moore, J. L.; Pelphrey, A.; Richie, E. R.: The mouse homolog of the rhombotin (Ttg-1) gene maps on chromosome 7 distal to the beta-globin (Hbb) locus. Mammalian Genome 4: 281-282, 1993.
[0029691]20279.Boehm, T.; Foroni, L.; Kennedy, M.; Rabbitts, T. H.: The rhombotin gene belongs to a class of transcriptional regulators with a potential novel protein dimerisation motif. Oncogene 5: 1103-1105, 1990.
[0029692]20280.Chen, Q.; Cheng, J. T.; Tasi, L. H.; Schneider, N.; Buchanan, G.; Carroll, A.; Crist, W.; Ozanne, B.; Siciliano, M. J.; Baer, R.: The TAL gene undergoes chromosome translocation in T cell leukemia and potentially encodes a helix-loop-helix protein. EMBO J. 9: 415-424, 1990.
[0029693]20281.Greenberg, J.; Boehm, T.; Surane, A.; Keynes, R.; Sofronew, M.; Rabbitts, T. H.: A human T cell translocation involving chromosome 11p15 identifies a gene expressed in developing rhombomeres of the mouse hind brain. (Abstract) Cytogenet. Cell Genet. 51: 1008 only, 1989.
[0029694]20282.Honey, K.; Benlagha, K.; Beers, C.; Forbush, K.; Teyton, L.; Kleijmeer, M. J.; Rudensky, A. Y.; Bendelac, A.: Thymocyte expression of cathepsin L is essential for NKT cell development. Nature Immun. 7Oct, 2002. Note: Advance Electronic Publication.
[0029695]20283.Adkison, L. R.; Taylor, S.; Beamer, W. G.: Mutant gene-induced disorders of structure, function and thyroglobulin synthesis in congenital goitre (cog/cog) in mice. J. Endocr. 126: 51-58, 1990.
[0029696]20284.Avvedimento, V. E.; Di Lauro, R.; Monticelli, A.; Bernardi, F.; Patracchini, P.; Calzolari, E.; Martini, G.; Varrone, S.: Mapping of human thyroglobulin gene on the long arm of chromosome 8 by in situ hybridization. Hum. Genet. 71: 163-166, 1985.
[0029697]20285.Baas, F.; Bikker, H.; Geurts van Kessel, A.; Melsert, R.; Pearson, P. L.; de Vijlder, J. J. M.; van Ommen, G.-J. B.: The human thyroglobulin gene: a polymorphic marker localized distal to CMYC on chromosome 8 band q24. Hum. Genet. 69: 138-143, 1985.
[0029698]20286.Baas, F.; van Ommen, G.-J. B.; Bikker, H.; Arnberg, A. C.; de Vijlder, J. J. M.: The human thyroglobulin gene is over 300 kb long and contains introns of up to 64 kb. Nucleic Acids Res. 14: 5171-5186, 1986.
[0029699]20287.Beamer, W. G.; Maltais, L. J.; DeBaets, M. H.; Eicher, E. M.: Inherited congenital goiter in mice. Endocrinology 120: 838-840, 1987.
[0029700]20288.Berge-Lefranc, J.-L.; Cartouzou, G.; Mattei, M.-G.; Passage, E.; Malezet-Desmoulins, C.; Lissitzky, S.: Localization of the thyroglobulin gene by in situ hybridization to human chromosomes. Hum. Genet. 69: 28-31, 1985.
[0029701]20289.Bernardi, F.; Patracchini, P.; Monticelli, A.; Varrone, S.; Aiello, V.; Calzolari, E.; Marchetti, G.; Avvedimento, V. E.: Human thyroglobulin gene is located on the terminal part of the long arm of chromosome 8. (Abstract) Cytogenet. Cell Genet. 40: 582-583, 1985.
[0029702]20290.Brocas, H.; Szpirer, J.; Lebo, R. V.; Levan, G.; Szpirer, C.; Cheung, M. C.; Vassart, G.: The thyroglobulin gene resides on chromosome 8 in man and on chromosome 7 in the rat. Cytogenet. Cell Genet. 39: 150-153, 1985.
[0029703]20291.Cochaux, P.; Ieiri, T.; Targovnik, H.; Suzuki, M.; Shimoda, S.-I.; Perret, J.; Vassart, G.: Identification of a splicing mutation responsible for a human hereditary goiter with hypothyroidism. (Abstract) Am. J. Hum. Genet. 49 (suppl.): 131 only, 1991.
[0029704]20292.Hashimoto, K.; Hirai, M.; Kurosawa, Y.: A gene outside the human MHC related to classical HLA class I genes. Science 269: 693-695, 1995.
[0029705]20293.Hashimoto, K.; Hirai, M.; Kurosawa, Y.: Identification of a mouse homolog for the human hereditary haemochromatosis candidate gene. Biochem. Biophys. Res. Commun. 230: 35-39, 1997.
[0029706]20294.Hickman, P. E.; Hourigan, L. F.; Powell, L. W.; Cordingley, F.; Dimeski, G.; Ormiston, B.; Shaw, J.; Ferguson, W.; Johnson, M.; Ascough, J.; McDonell, K.; Pink, A.; Crawford, D. H. G.: Automated measurement of unsaturated iron binding capacity is an effective screening strategy for C282Y homozygous haemochromatosis. Gut 46: 405-409, 2000.
[0029707]20295.Hill, W. G.; Robertson, A.: Linkage disequilibrium in finite populations. Theor. Appl. Genet. 38: 226-231, 1968.
[0029708]20296.Jazwinska, E. C.; Cullen, L. M.; Busfield, F.; Pyper, W. R.; Webb, S. I.; Powell, L. W.; Morris, C. P.; Walsh T. P.: Haemochromatosis and HLA-H. (Letter) Nature Genet. 14: 249-251, 1996.
[0029709]20297.Jazwinska, E. C.; Lee, S. C.; Webb, S. I.; Halliday, J. W.; Powell, L. W.: Localization of the hemochromatosis gene close to D6S105. Am. J. Hum. Genet. 53: 347-352, 1993.
[0029710]20298.Jazwinska, E. C.; Pyper, W. R.; Burt, M. J.; Francis, J. L.; Goldwurm, S.; Webb, S. I.; Lee, S. C.; Halliday, J. W.; Powell, L. W.: Haplotype analysis in Australian hemochromatosis patients: evidence for a predominant ancestral haplotype exclusively associated with hemochromatosis. Am. J. Hum. Genet. 56: 428-433, 1995.
[0029711]20299.Jeffrey, G. P.; Chakrabarti, S.; Hegele, R. A.; Adams, P. C.: Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in haemochromatosis. (Letter) Nature Genet. 22: 325-326, 1999.
[0029712]20300.Johnson, G. B., Jr.; Frey, W. G., III: Familial aspects of idiopathic hemochromatosis. J.A.M.A. 179: 747-751, 1962.
[0029713]20301.Jouanolle, A.-M.; Yaouanq, J.; Blayau, M.; Perichon, M.; Fauchet, R.; Font, M.-P.; Le Gall, J.-Y.; David, V.: HLA class I gene polymorphism in genetic hemochromatosis. Hum. Genet. 85: 279-282, 1990.
[0029714]20302.Jouanolle, A. M.; Fergelot, P.; Gandon, G.; Yaouanq, J.; Le Gall, J. Y.; David, V.: A candidate gene for hemochromatosis: frequency of the C282Y and H63D mutations. Hum. Genet. 100: 544-547, 1997. 100. Jouanolle, A. M.; Gandon, G.; Jezequel, P.; Blayau, M.; Campion, M. L.; Yaouanq, J.; Mosser, J.; Fergelot, P.; Chauvel, B.; Bouric, P.; Carn, G.; Andrieux, N.; Gicquel, I.; Le Gall, J.-Y.; David, V. : Haemochromatosis and HLA-H. (Letter) Nature Genet. 14: 251-252, 1996. 101. Kaikov, Y.; Wadsworth, L. D.; Hassall, E.; Dimmick, J. E.; Rogers, P. C. J.: Primary hemochromatosis in children: report of three newly diagnosed cases and review of the pediatric literature. Pediatrics 90: 37-42, 1992. 102. Karlsson, M.; Ikkala, E.; Reunanen, A.; Takkunen, H.; Vuori, E.; Makinen, J.: Prevalence of hemochromatosis in Finland. Acta Med. Scand. 224: 385-390, 1988. 103. Kidd, K. K.: Genetic linkage and hemochromatosis. (Editorial) New Eng. J. Med. 301: 209-210, 1979. 104. Kravitz, K.; Skolnick, M.; Cannings, C.; Carmelli, D.; Baty, B.; Amos, B.; Johnson, A.; Mendell, N.; Edwards, C.; Cartwright, G. : Genetic linkage between hereditary hemochromatosis and HLA. Am. J. Hum. Genet. 31: 601-619, 1979. 105. Krikker, M. A.: A foundation for hemochromatosis. (Letter) Ann. Intern. Med. 97: 782-783, 1982. 106. Kuhnl, P.; Kaltwasser, J. P.; Seidl, S.: HLA antigens in patients with idiopathic hemochromatosis (IH). Tissue Antigens 12: 398-401, 1978. 107. Kushner, J. P.; Skolnick, M. H.; Edwards, C. Q.; Goldgar, D.; Griffen, L. M.; Drummond, C.: Advantageous hemochromatosis. (Letter) New Eng. J. Med. 319: 1156, 1988. 108. Lalouel, J. M.; Le Mignon, L.; Simon, M.; Fauchet, R.; Bourel, M.; Rao, D. C.; Morton, N. E.: Genetic analysis of idiopathic hemochromatosis using both qualitative (disease status) and quantitative (serum iron) information. Am. J. Hum. Genet. 37: 700-718, 1985. 109. Lamon, J. M.; Marynick, S. P.; Roseblatt, R.; Donnelly, S.: Idiopathic hemochromatosis in a young female: a case study and review of the syndrome in young people. Gastroenterology 76: 178-183, 1979. 110. Lebron, J. A.; Bennett, M. J.; Vaughn, D. E.; Chirino, A. J.; Snow, P. M.; Mintier, G. A.; Feder, J. N.; Bjorkman, P. J.: Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor. Cell 93: 111-123, 1998. 111. Leggett, B. A.; Halliday, J. W.; Brown, N. N.; Bryant, S.; Powell, L. W.: Prevalence of haemochromatosis amongst asymptomatic Australians. Brit. J. Haemat. 74: 525-530, 1990. 112. Le Mignon, L.; Simon, M.; Fauchet, R.; Edan, G.; Le Reun, M.; Brissot, P.; Genetet, B.; Bourel, M.: An HLA-All association with the hemochromatosis allele? Clin. Genet. 24: 171-176, 1983. 113. Levy, J. E.; Montross, L. K.; Cohen, D. E.; Fleming, M. D.; Andrews, N. C.: The C282Y mutation causing hereditary hemochromatosis does not produce a null allele. Blood 94: 9-11, 1999. 114. Lipinski, M.; Hors, J.; Saleun, J.-P.; Saddi, R.; Passa, P.; Lafaurie, S.; Feingold, N.; Dausset, J.: Idiopathic hemochromatosis: linkage with HLA. Tissue Antigens 11: 471-474, 1978. 115. Lonjou, C.; Collins, A.; Ajioka, R. S.; Jorde, L. B.; Kushner, J. P.; Morton, N. E.: Allelic association under map error and recombinational heterogeneity: a tale of two sites. Proc. Nat. Acad. Sci. 95: 11366-11370, 1998. 116. Looker, A. C.; Johnson, C. J.: Prevalence of elevated serum transferrin saturation in adults in the United States. Ann. Intern. Med. 129: 940-945, 1998. 117. Lord, D. K.; Dunham, I.; Campbell, R. D.; Bomford, A.; Strachan, T.; Cox, T. M.: Molecular analysis of the human MHC class I region in hereditary haemochromatosis: a study by pulsed-field gel electrophoresis. Hum. Genet. 85: 531-536, 1990. 118. Lucotte, G.: Celtic origin of the C282Y mutation of hemochromatosis. Blood Cells Molecules Dis. 24: 433-438, 1998. 119. Lucotte, G.; Coulondre, C.: Association between a 10 kb PvuII restriction fragment of genomic DNA with the hemochromatosis gene. Exp. Clin. Immunogenet. 3: 219-223, 1986. 120. MacSween, R. N. M.; Scott, A. R.: Hepatic cirrhosis: a clinico-pathological review of 520 cases. J. Clin. Path. 26: 936-942, 1973. 121. Maddrey, W. C.; Hamilton, S. R.; Belitsos, N. J.: Familial hemochromatosis. Johns Hopkins Med. J. 144: 66-69, 1979. 122. McGill, J. R.; Naylor, S. L.; Sakaguchi, A. Y.; Moore, C. M.; Boyd, D.; Barrett, K. J.; Shows, T. B.; Drysdale, J. W.: Human ferritin H and L sequences lie on ten different chromosomes. Hum. Genet. 76: 66-72, 1987. 123. Mercier, B.; Mura, C.; Ferec, C.: Putting a hold on 'HLA-H.' (Letter) Nature Genet. 15: 234 only, 1997. 124. Merryweather-Clarke, A. T.; Pointon, J. J.; Shearman, J. D.; Robson, K. J. H.: Global prevalence of putative haemochromatosis mutations. J. Med. Genet. 34: 275-278, 1997. 125. Merryweather-Clarke, A. T.; Simonsen, H.; Shearman, J. D.; Pointon, J. J.; Norgaard-Pedersen, B.; Robson, K. J. H.: A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations. Hum. Mutat. 13: 154-159, 1999. 126. Meyer, T. E.; Ballot, D.; Bothwell, T. H.; Green, A.; Derman, D. P.; Baynes, R. D.; Jenkins, T.; Jooste, P. L.; du Toit, E. D.; Jacobs, P. J.: The HLA linked iron loading gene in an Afrikaner population. J. Med. Genet. 24: 348-356, 1987. 127. Milman, N.: Hereditary haemochromatosis in Denmark 1950-1985: clinical, biochemical and histological features in 179 patients and 13 preclinical cases. Danish Med. Bull. 38: 385-393, 1991. 128. Milman, N.; Eiberg, H.; Thymann, M.; Fenger, K.: Transferrin subtypes in 51 Danish patients with hereditary haemochromatosis and in 847 normal subjects. Hum. Genet. 88: 475-476, 1992. 129. Milman, N.; Graudal, N.; Nielsen, L. S.; Fenger, K.: HLA determinants in 70 Danish patients with idiopathic haemochromatosis. Clin. Genet. 33: 286-292, 1988. 130. Milman, N.; Graudal, N.; Nielsen, L. S.; Fenger, K.: An HLA study in 74 Danish haemochromatosis patients and in 21 of their families. Clin. Genet. 41: 6-11, 1992. 131. Milman, N.; Graudal, N.; Nielsen, L. S.; Mathiassen, B.; Tauris, P.; Lund, B.; Kristensen, J. S.; Fenger, K.: Family studies of hereditary hemochromatosis in Denmark and the Faroe Islands. Hum. Genet. 85: 228-232, 1990. 132. Muir, W. A.; McLaren, G. D.; Braun, W.; Askari, A.: Evidence for heterogeneity in hereditary hemochromatosis: evaluation of 174 persons in nine families. Am. J. Med. 76: 806-814, 1984. 133. Muir, W. A.; McLaren, G. D.; Braun, W. E.; Askari, A. K.: Hereditary hemochromatosis: dominant inheritance and probable linkage to HLA. (Abstract) Am. J. Hum. Genet. 30: 61A, 1978. 134. Mura, C.; Le Gac, G.; Scotet, V.; Raguenes, O.; Mercier, A.-Y.; Ferec, C.: Variation of iron loading expression in C282Y homozygous haemochromatosis probands and sib pairs. (Letter) J. Med. Genet. 38: 632-636, 2001. 135. Mura, C.; Nousbaum, J.-B.; Verger, P.; Moalic, M.-T.; Raguenes, O.; Mercier, A.-Y.; Ferec, C.: Phenotype-genotype correlation in haemochromatosis subjects. Hum. Genet. 101: 271-276, 1997. 136. Mura, C.; Raguenes, O.; Ferec, C.: HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis. Blood 93: 2502-2505, 1999. 137. Murphy, P. A.: Personal Communication. Baltimore, Md. 12/12/1987. 138. Niederau, C.; Fischer, R.; Sonnenberg, A.; Stremmel, W.; Trampisch, H. J.; Strohmeyer, G.: Survival and causes of death in cirrhotic and in noncirrhotic patients with primary hemochromatosis. New Eng. J. Med. 313: 1256-1262, 1985. 139. Noll, W. W.; Belloni, D. R.; Stenzel, T. T.; Grody, W. W.: Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results (Letter) Nature Genet. 23: 271-272, 1999. 140. Nussbaumer, T.; Plattner, H. C.; Rywlin, A. M.: Hemochromatose juvenile chez trois soeurs et un frere avec consanguinite des parents: etude anatomoclinique et genetique du syndrome endocrinohepatomyocardique. J. Genet. Hum. 1: 53-59, 1952. 141. Olsson, K. S.; Eriksson, K.; Ritter, B.; Heedman, P. A.: Screening for iron overload using transferrin saturation. Acta Med. Scand. 215: 105-112, 1984. 142. Olsson, K. S.; Ritter, B.; Rosen, U.; Heedman, P. A.; Staugard, F.: Prevalence of iron overload in central Sweden. Acta Med. Scand. 213: 145-150, 1983. 143. Olynyk, J. K.; Cullen, D. J.; Aquilia, S.; Rossi, E.; Summerville, L.; Powell, L. W.: A population-based study of the clinical expression of the hemochromatosis gene. New Eng. J. Med. 341: 718-724, 1999. 144. Parkkila, S.; Waheed, A.; Britton, R. S.; Bacon, B. R.; Zhou, X. Y.; Tomatsu, S.; Fleming, R. E.; Sly, W. S.: Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis. Proc. Nat. Acad. Sci. 94: 13198-13202, 1997. 145. Parkkila, S.; Waheed, A.; Britton, R. S.; Feder, J. N.; Tsuchihashi, Z.; Schatzman, R. C.; Bacon, B. R.; Sly, W. S.: Immunohistochemistry of HLA-H, the protein defective in patients with hereditary hemochromatosis, reveals unique pattern of expression in gastrointestinal tract. Proc. Nat. Acad. Sci. 94: 2534-2539, 1997. 146. Perkins, K. W.; McInnes, I. W. S.; Blackburn, C. R. B.; Beal, R. W.: Idiopathic hemochromatosis in children: report of a family. Am. J. Med. 39: 118-126, 1965. 147. Phatak, P. D.; Sham, R. L.; Raubertas, R. F.; Dunnigan, K.; O'Leary, M. T.; Braggins, C.; Cappuccio, J. D.: Prevalence of hereditary hemochromatosis in 16,031 primary care patients. Ann. Intern. Med. 129: 954-961, 1998. 148. Pollycove, M.: Hemochromatosis.In: Stanbury, J. B.; Wyngaarden, J. B.; Fredrickson, D. S.: The Metabolic Basis of Inherited Disease. New York: McGraw-Hill (pub.) (3rd ed.): 1972. Pp. 1051-1084. 149. Poullis, A.; Moodie, S. J.; Maxwell, J. D.: Clinical haemochromatosis in HFE mutation carriers. Lancet 360: 411-412, 2002. 150. Powell, L. W.; Ferluga, J.; Halliday, J. W.; Bassett, M. L.; Kohonen-Corish, M.; Serjeantson, S.: Genetic hemochromatosis and HLA linkage. Hum. Genet. 77: 55-56, 1987. 151. Powell, L. W.; George, D. K.; McDonnell, S. M.; Kowdley, K. V. : Diagnosis of hemochromatosis. Ann. Intern. Med. 129: 925-931, 1998. 152. Pozzato, G.; Zorat, F.; Nascimben, F.; Gregorutti, M.; Comar, C.; Baracetti, S.; Vatta, S.; Bevilacqua, E.; Begrano, A.; Crovella, S.; Amoroso, A.: Haemochromatosis gene mutations in a clustered Italian population: evidence of high prevalence in people of Celtic ancestry. Europ. J. Hum. Genet. 9: 445-451, 2001. 153. Rabinovitz, M.; Gavaler, J. S.; Kelly, R. H.; Van Thiel, D. H. : Association between heterozygous alpha-1-antitrypsin deficiency and genetic hemochromatosis. Hepatology 16: 145-148, 1992. 154. Raha-Chowdhury, R.; Bowen, D. J.; Worwood, M.: A new highly polymorphic marker in the 5-prime untranslated region of HLA-F shows strong allelic association with haemochromatosis. Hum. Genet. 97: 228-231, 1996. 155. Rhodes, D. A.; Raha-Chowdhury, R.; Cox, T. M.; Trowsdale, J. : Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis. J. Med. Genet. 34: 761-764, 1997. 156. Risch, N.: Haemochromatosis, HFE and genetic complexity. (Letter) Nature Genet. 17: 375-376, 1997. 157. Ritter, B.; Safwenberg, J.; Olsson, K. S.: HLA as a marker of the hemochromatosis gene in Sweden. Hum. Genet. 68: 62-66, 1984. 158. Robson, K. J. H.; Shearman, J. D.; Merryweather-Clarke, A. T.; Pointon, J. J.; Rosenberg, W. M.; Walker, A. P.; Dooley, J. S.; Bomford, A.; Raha-Chowdhury, R.; Worwood, M.: Haemochromatosis: a gene at last? J. Med. Genet. 34: 148-151, 1997. 159. Rochette, J.; Pointon, J. J.; Fisher, C. A.; Perera, G.; Arambepola, M.; Kodikara Arichchi, D. S.; De Silva, S.; Vandwalle, J. L.; Monti, J. P.; Old, J. M.; Merryweather-Clarke, A. T.; Weatherall, D. J.; Robson, K. J. H.: Multicentric origin of hemochromatosis gene (HFE) mutations. Am. J. Hum. Genet. 64: 1056-1062, 1999. 160. Roldan, F. P.; Echenagusia, A. A.; Carro, P. G.: Hemochromatosis presenting as acute liver failure after iron supplementation. (Letter) New Eng. J. Med. 339: 269-270, 1998. 161. Roth, M.-P.; Giraldo, P.; Hariti, G.; Poloni, E. S.; Sanchez-Mazas, A.; De Stefano, G. F.; Dugoujon, J.-M.; Coppin, H.: Absence of the hemochromatosis gene Cys282Tyr mutation in three ethnic groups from Algeria (Mzab), Ethiopia, and Senegal. Immunogenetics 46: 222-225, 1997. 162. Rothenberg, B. E.; Voland, J. R.: Beta-2 knockout mice develop parenchymal iron overload: a putative role for class I genes of the major histocompatibility complex in iron metabolism. Proc. Nat. Acad. Sci. 93: 1529-1534, 1996. 163. Rowe, J. W.; Wands, J. R.; Mezey, S. E.; Waterbury, L. A.; Wright, J. R.; Tobin, J.; Andres, R.: Familial hemochromatosis: characteristics of the precirrhotic stage in a large kindred. Medicine 56: 197-211, 1977. 164. Roy, C. N.; Andrews, N. C.: Recent advances in disorders of iron metabolism: mutations, mechanisms and modifiers. Hum. Molec. Genet. 10: 2181-2186, 2001. 165. Roy, C. N.; Penny, D. M.; Feder, J. N.; Enns, C. A.: The hereditary hemochromatosis protein, HFE, specifically regulates transferrin-mediated iron uptake in HeLa cells. J. Biol. Chem. 274: 9022-9028, 1999. 166. Ryan, E.; O'Keane, C.; Crowe, J.: Hemochromatosis in Ireland and HFE. Blood Cells Molecules Dis. 24: 428-432, 1998. 167. Saddi, R.; Feingold, J.: Idiopathic haemochromatosis: an autosomal recessive disease. Clin. Genet. 5: 234-241, 1974. 168. Sargent, T., III; Lim, T. H.; Jenson, R. L.: Reduced chromium retention in patients with hemochromatosis, a possible basis of hemochromatotic diabetes. Metabolism 28: 70-79, 1979. 169. Sheldon, J. H.: Haemochromatosis. London: Oxford Univ. Press (pub.) 1935. Pp. 19 only. 170. Siemons, L. J.; Mahler, C.: Hypogonadotropic hypogonadism in hemochromatosis: recovery of reproductive function after iron depletion. J. Clin. Endocr. Metab. 65: 585-587, 1987. 171. Simon, M.; Alexandre, J. L.; Bourel, M.; Le Marec, B.; Scordia, C.: Heredity of idiopathic haemochromatosis: a study of 106 families. Clin. Genet. 11: 327-341, 1977. 172. Simon, M.; Bourel, M.; Fauchet, R.; Genetet, B.: Association of HLA-A3 and HLA-B14 antigens with idiopathic haemochromatosis. Gut 17: 332-334, 1976. 173. Simon, M.; Bourel, M.; Genetet, B.; Fauchet, R.: Heredity of idiopathic haemochromatosis. (Letter) Lancet I: 706, 1977. 174. Simon, M.; Bourel, M.; Genetet, B.; Fauchet, R.: Idiopathic hemochromatosis: demonstration of recessive transmission and early detection by family HLA typing. New Eng. J. Med. 297: 1017-1021, 1977. 175. Simon, M.; Fauchet, R.; Hespel, J. P.; Beaumont, C.; Brissot, P.; Hary, B.; De Nercy, H. Y. H.; Genetet, B.; Bourel, M.: Idiopathic hemochromatosis: a study of biochemical expression in 247 heterozygous members of 63 families: evidence for a single major HLA-linked gene. Gastroenterology 78: 703-708, 1980. 176. Simon, M.; Fauchet, R.; Le Gall, J. Y.; Brissot, P.; Bourel, M.: Immunogenetics of idiopathic hemochromatosis and secondary iron overload.In: Farid, N. R.: Immunogenetics of Endocrine Disorders. New York: Alan R. Liss (pub.) 1988. Pp. 345-371. 177. Simon, M.; Le Mignon, L.; Fauchet, R.; Yaouanq, J.; David, V.; Edan, G.; Bourel, M.: A study of 609 HLA haplotypes marking for the hemochromatosis gene: (1) mapping of the gene near the HLA-A locus and characters required to define a heterozygous population and (2) hypothesis concerning the underlying cause of hemochromatosis-HLA association. Am. J. Hum. Genet. 41: 89-105, 1987. 178. Skolnick, M.: Personal Communication. Salt Lake City, Utah 9/27/1983. 179. Sorsby, A.: Clinical Genetics. St. Louis: C. V. Mosby (pub.) 1953. Pp. 206 only. 180. Sproule, T. J.; Jazwinska, E. C.; Britton, R. S.; Bacon, B. R.; Fleming, R. E.; Sly, W. S.; Roopenian, D. C.: Naturally variant autosomal and sex-linked loci determine the severity of iron overload in beta-2-microglobulindeficient mice. Proc. Nat. Acad. Sci. 98: 5170-5174, 2001. 181. Stevens, F. M.; Walters, J. M.; Watt, D. W.; McCarthy, C. F. : Inheritance of idiopathic haemochromatosis. (Letter) Lancet I: 1107, 1977. 182. Summers, K. M.; Tam, K. S.; Bartley, P. B.; Drysdale, J.; Zoghbi, H. Y.; Halliday, J. W.; Powell, L. W.: Fine mapping of a human chromosome 6 ferritin heavy chain pseudogene: relevance to haemochromatosis. Hum. Genet. 88: 175-178, 1991. 183. Summers, K. M.; Tam, K. S.; Halliday, J. W.; Powell, L. W.: HLA determinants in an Australian population of hemochromatosis patients and their families. Am. J. Hum. Genet. 45: 41-48, 1989. 184. Thenie, A. C.; Gicquel, I. M.; Hardy, S.; Ferran, H.; Fergelot, P. Le Gall, J.-Y.; Mosser, J.: Identification of an endogenous RNA transcribed from the antisense strand of the HFE gene. Hum. Molec. Genet. 10: 1859-1866, 2001. 185. The UK Haemochromatosis Consortium: A simple genetic test identifies 90% of UK patients with haemochromatosis. Gut 41: 841-844, 1997. 186. Totaro, A.; Rommens, J. M.; Grifa, A.; Lunardi, C.; Carella, M.; Huizenga, J. J.; Roetto, A.; Camaschella, C.; De Sandre, G.; Gasparini, P.: Hereditary hemochromatosis: generation of a transcription map within a refined and extended map of the HLA class I region. Genomics 31: 319-326, 1996. 187. Townsend, A.; Drakesmith, H.: Role of HFE in iron metabolism, hereditary haemochromatosis, anaemia of chronic disease, and secondary iron overload. Lancet 359: 786-790, 2002. 188. Trousseau, A.: Clinical Medicine Lectures Delivered at the Hotel-Dieu Paris by A. Trousseau. Philadelphia: Blakiston (pub.) II: 1882. Pp. 313-315. Note: Translation: 3rd revised and enlarged edition by Sir John Rose Cormack and P. Victor Bazire....... 189. Trousseau, A.: Clinique Med. de l'Hotel de Paris. (pub.) II: 1865. Pp. 663-698. 190. Valberg, L. S.; Lloyd, D. A.; Ghent, C. N.; Flanagan, P. R.; Sinclair, N. R.; Stiller, C. R.; Chamberlain, M. J.: Clinical and biochemical expression of the genetic abnormality in idiopathic hemochromatosis. Gastroenterology 79: 884-892, 1980. 191. Waheed, A.; Parkkila, S.; Saarnio, J.; Fleming, R. E.; Zhou, X. Y.; Tomatsu, S.; Britton, R. S.; Bacon, B. R.; Sly, W. S.: Association of HFE protein with transferrin receptor in crypt enterocytes of human duodenum. Proc. Nat. Acad. Sci. 96: 1579-1584, 1999. 192. Waheed, A.; Parkkila, S.; Zhou, X. Y.; Tomatsu, S.; Tsuchihashi, Z.; Feder, J. N.; Schatzman, R. C.; Britton, R. S.; Bacon, B. R.; Sly, W. S.: Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with beta-2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells. Proc. Nat. Acad. Sci. 94: 12384-12389, 1997. 193. Wands, J. R.; Rowe, J. A.; Mezey, S. E.; Waterbury, L. A.; Wright, J. R.; Halliday, J. W.; Isselbacher, K. J.; Powell, L. W.: Normal serum ferritin concentrations in precirrhotic hemochromatosis. New Eng. J. Med. 294: 302-305, 1976. 194. Willis, G.; Wimperis, J. Z.; Lonsdale, R.; Fellows, I. W.; Watson, M. A.; Skipper, L. M.; Jennings, B. A.: Incidence of liver disease in people with HFE mutations. Gut 46: 401-404, 2000. 195. Worwood, M.; Darke, C.; Trenchard, P.: Hereditary haemochromatosis and blood donation. (Letter) Brit. Med. J. 302: 593, 1991. 196. Yaouang, J.; Perichon, M.; Chorney, M.; Pontarotti, P.; Le Treut, A.; El Kahloun, A.; Mauvieux, V.; Blayau, M.; Jouanolle, A. M.; Chauvel, B.; Moirand, R.; Nouel, O.; Le Gall, J. Y.; Feingold, J.; David, V. : Anonymous marker loci within 400 kb of HLA-A generate haplotypes in linkage disequilibrium with the hemochromatosis gene (HFE). Am. J. Hum. Genet. 54: 252-263, 1994. 197. Yaouanq, J.; El Kahloun, A.; Chorney, M.; Jouanolle, A. M.; Mauvieux, V.; Perichon, M.; Blayau, M.; Pontarotti, P.; Le Gall, J. Y.; David, V.: Familial screening for genetic haemochromatosis by means of DNA markers. J. Med. Genet. 29: 320-322, 1992. 198. Zappone, E.; Dugast, I.; Papadopoulos, P.; Theriault, K.; David, V.; LeGall, J.-Y.; Summers, K.; Powell, L.; Drysdale, J.: Polymorphism in a ferritin H gene from chromosome 6p. Hum. Genet. 86: 557-561, 1991. 199. Zhou, X. Y.; Tomatsu, S.; Fleming, R. E.; Parkkila, S.; Waheed, A.; Jiang, J.; Fei, Y.; Brunt, E. M.; Ruddy, D. A.; Prass, C. E.; Schatzman, R. C.; O'Neill, R.; Britton, R. S.; Bacon, B. R.; Sly, W. S.: HFE gene knockout produces mouse model of hereditary hemochromatosis. Proc. Nat. Acad. Sci. 95: 2492-2497, 1998. 200. Zoller, H.; Pietrangelo, A.; Vogel, W.; Weiss, G.: Duodenal metal-transporter (DMT-1, NRAMP-2) expression in patients with hereditary haemochromatosis. Lancet 353: 2120-2123, 1999.
[0029715]20303.Azarnia, R.; Reddy, S.; Kmiecik, T. E.; Shalloway, D.; Loewenstein, W. R.: The cellular src gene product regulates junctional cell-to-cell communication. Science 239: 398-401, 1988.
[0029716]20304.Czernilofsky, A. P.; Levinson, A. D.; Varmus, H. E.; Bishop, J. M.; Tischer, E.; Goodman, H.: Correction to the nucleotide sequence of the src gene of Rous sarcoma virus. Nature 301: 736-738, 1983.
[0029717]20305.Gibbs, C. P.; Tanaka, A.; Anderson, S. K.; Radul, J.; Baar, J.; Ridgway, A.; Kung, H.-J.; Fujita, D. J.: Isolation and structural mapping of a human c-src gene homologous to the transforming gene (v-src) of Rous sarcoma virus. J. Virol. 53: 19-24, 1985.
[0029718]20306.Irby, R. B.; Mao, W.; Coppola, D.; Kang, J.; Loubeau, J. M.; Trudeau, W.; Karl, R.; Fujita, D. J.; Jove, R.; Yeatman, T. J.: Activating SRC mutation in a subset of advanced human colon cancers. Nature Genet. 21: 187-190, 1999.
[0029719]20307.Le Beau, M. M.; Westbrook, C. A.; Diaz, M. O.; Rowley, J. D.: c-src is consistently conserved in the chromosomal deletion (20q) observed in myeloid disorders. Proc. Nat. Acad. Sci. 82: 6692-6696, 1985.
[0029720]20308.Lowe, C.; Yoneda, T.; Boyce, B. F.; Chen, H.; Mundy, G. R.; Soriano, P.: Osteopetrosis in Src-deficient mice is due to an autonomous defect of osteoclasts. Proc. Nat. Acad. Sci. 90: 4485-4489, 1993.
[0029721]20309.Morris, C. M.; Honeybone, L. M.; Hollings, P. E.; Fitzgerald, P. H.: Localization of the SRC oncogene to chromosome band 20q11.2 and loss of this gene with deletion (20q) in two leukemic patients. Blood 74: 1768-1773, 1989.
[0029722]20310.Sakaguchi, A. Y.; Mohandas, T.; Naylor, S. L.: A human c-src gene resides on the proximal long arm of chromosome 20 (cen-q13.1). Cancer Genet. Cytogenet. 18: 123-129, 1985.
[0029723]20311.Sakaguchi, A. Y.; Naylor, S. L.; Weinberg, R. A.; Shows, T. B. : Organization of human proto-oncogenes. (Abstract) Am. J. Hum. Genet. 34: 175A, 1982.
[0029724]20312.Sakaguchi, A. Y.; Zabel, B. U.; Grzeschik, K. H.; Law, M. L.; Naylor, S. L.: Human proto-oncogene assignments. (Abstract) Cytogenet. Cell Genet. 37: 572-573, 1984.
[0029725]20313.Wong, B. R.; Besser, D.; Kim, N.; Arron, J. R.; Vologodskaia, M.; Hanafusa, H.; Choi, Y.: TRANCE, a TNF family member, activates Akt/PKB through a signaling complex involving TRAF6 and c-Src. Molec. Cell 4: 1041-1049, 1999.
[0029726]20314.Starzl, T. E.; Demetris, A. J.; Trucco, M.; Ricordi, C.; Ildstad, S.; Terasaki, P. I.; Murase, N.; Kendall, R. S.; Kocova, M.; Rudert, W. A.; Zeevi, A.; Van Thiel, D.: Chimerism after liver transplantation for type IV glycogen storage disease and type 1 Gaucher's disease. New Eng. J. Med. 328: 745-749, 1993.
[0029727]20315.Trend, P. St. J.; Wiles, C. M.; Spencer, G. T.; Morgan-Hughes, J. A.; Lake, B. D.; Patrick, A. D.: Acid maltase deficiency in adults: diagnosis and management in five cases. Brain 108: 845-860, 1985.
[0029728]20316.Wokke, J. H. J.; Ausems, M. G. E. M.; van den Boogaard, M.-J. H.; Ippel, E. F.; van Diggelen, O.; Kroos, M. A.; Boer, M.; Jennekens, F. G. I.; Reuser, A. J. J.; Ploos van Amstel, H. K.: Genotype-phenotype correlation in adult-onset acid maltase deficiency. Ann. Neurol. 38: 450-454, 1995.
[0029729]20317.Bao, Y.; Dawson, T. L., Jr.; Chen, Y.-T.: Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5-prime flanking region. Genomics 38: 155-165, 1996.
[0029730]20318.Brunberg, J. A.; McCormick, W. F.; Schochet, S. S., Jr.: Type III glycogenosis. An adult with diffuse weakness and muscle wasting. Arch. Neurol. 25: 171-178, 1971.
[0029731]20319.Chen, Y.-T.; He, J.-K.; Ding, J.-H.; Brown, B. I.: Glycogen debranching enzyme: purification, antibody characterization, and immunoblot analyses of type III glycogen storage disease. Am. J. Hum. Genet. 41: 1002-1015, 1987.
[0029732]20320.Chen, Y. T.; Burchell, A.: Glycogen storage diseases.In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill (7th ed.): 1995. Pp. 935-965.
[0029733]20321.Cohen, J.; Friedman, M.: Renal tubular acidosis associated with type III glycogenosis. Acta Paediat. Scand. 68: 779-782, 1979.
[0029734]20322.Cohn, J.; Wang, P.; Hauge, M.; Henningsen, K.; Jensen, B.; Svejgaard, A.: Amylo-1,6-glucosidase deficiency (glycogenosis type III) in the Faroe Island. Hum. Hered. 25: 115-126, 1975.
[0029735]20323.Coleman, R. A.; Winter, H. S.; Wolf, B.; Chen, Y.-T.: Glycogen debranching enzyme deficiency: long-term study of serum enzyme activities and clinical features. J. Inherit. Metab. Dis. 15: 869-881, 1992.
[0029736]20324.Confino, E.; Pauzner, D.; Lidor, A.; Yedwab, G.; David, M.: Pregnancy associated with amylo-1,6-glucosidase deficiency (Forbes' disease): case report. Brit. J. Obstet. Gynaec. 91: 494-497, 1984.
[0029737]20325.DiMauro, S.; Hartwig, G. B.; Hays, A.; Eastwood, A. B.; Franco, R.; Olarte, M.; Chang, M.; Roses, A. D.; Fetell, M.; Schoenfeldt, R. S.; Stern, L. Z.: Debrancher deficiency: neuromuscular disorder in 5 adults. Ann. Neurol. 5: 422-436, 1979.
[0029738]20326.Fellows, I. W.; Lowe, J. S.; Ogilvie, A.; Stevens, A.; Toghill, P. J.; Atkinson, M.: Type III glycogenosis presenting as liver disease in adults with atypical histological features. J. Clin. Path. 36: 431-434, 1983.
[0029739]20327.Fernandes, J.: The history of the glycogen storage disease. (Letter) Europ. J. Pediat. 154: 423-424, 1995.
[0029740]20328.Garancis, J. C.; Panares, R. R.; Good, T. A.; Kuzma, J. F.: Type 3 glycogenosis. A biochemical and electron microscopic study. Lab. Invest. 22: 468-477, 1970.
[0029741]20329.Hadjigeorgiou, G. M.; Comi, G. P.; Bordoni, A.; Shen, J.; Chen, Y.-T.; Salani, S.; Toscano, A.; Fortunato, F.; Lucchiari, S.; Bresolin, N.; Rodolico, C.; Piscaglia, M. G.; Franceschina, L.; Papadimitriou, A.; Scarlato, G.: Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa. J. Inherit. Metab. Dis. 22: 762-763, 1999.
[0029742]20330.Levin, S.; Moses, S. W.; Chayoth, R.; Jadoga, N.; Steinitz, K. : Glycogen storage disease in Israel. A clinical, biochemical and genetic study. Israel J. Med. Sci. 3: 397-410, 1967.
[0029743]20331.Lucchiari, S.; Fogh, I.; Prelle, A.; Parini, R.; Bresolin, N.; Melis, D.; Fiori, L.; Scarlato, G.; Comi, G. P.: Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area. Am. J. Med. Genet. 109: 183-190, 2002.
[0029744]20332.Markowitz, A. J.; Chen, Y.-T.; Muenzer, J.; Delbuono, E. A.; Lucey, M. R.: A man with type III glycogenosis associated with cirrhosis and portal hypertension. Gastroenterology 105: 1882-1885, 1993.
[0029745]20333.Miranda, A. F.; DiMauro, S.; Antler, A.; Stern, L. Z.; Rowland, L. P.: Glycogen debrancher deficiency is reproduced in muscle culture. Ann. Neurol. 9: 283-288, 1981.
[0029746]20334.Momoi, T.; Sano, H.; Yamanaka, C.; Sasaki, H.; Mikawa, H.: Glycogen storage disease type III with muscle involvement: reappraisal of phenotypic variability and prognosis. Am. J. Med. Genet. 42: 696-699, 1992.
[0029747]20335.Moses, S. W.; Wanderman, K. L.; Myroz, A.; Frydman, M.: Cardiac involvement in glycogen storage disease type III. Europ. J. Pediat. 148: 764-766, 1989.
[0029748]20336.Okubo, M.; Aoyama, Y.; Murase, T.: A novel donor splice site mutation in the glycogen debranching enzyme gene is associated with glycogen storage disease type III. Biochem. Biophys. Res. Commun. 224: 493-499, 1996.
[0029749]20337.Okubo, M.; Horinishi, A.; Makamura, N.; Aoyama, Y.; Hashimoto, M.; Endo, Y.; Murase, T.: A novel point mutation in an acceptor splice site of intron 32 (IVS32 A-12-to-G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb. Hum. Genet. 102: 1-5, 1998.
[0029750]20338.Okubo, M.; Horinishi, A.; Suzuki, Y.; Murase, T.; Hayasaka, K. : Compound heterozygous patient with glycogen storage disease type III: identification of two novel AGL mutations, a donor splice site mutation of Chinese origin and a 1-bp deletion of Japanese origin. Am. J. Med. Genet. 93: 211-214, 2000.
[0029751]20339.Okubo, M.; Horinishi, A.; Takeuchi, M.; Suzuki, Y.; Sakura, N.; Hasegawa, Y.; Igarashi, T.; Goto, K.; Tahara, H.; Uchimoto, S.; Omichi, K.; Kanno, H.; Hayasaka, K.; Murase, T.: Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan. Hum. Genet. 106: 108-115, 2000.
[0029752]20340.Attard-Montalto, S.; Evans, N.; Sherwood, R. A.: Carotenaemia with low vitamin A levels and low retinol-binding protein. J. Inherit. Metab. Dis. 15: 929-930, 1992.
[0029753]20341.Chainani, M.; Sampsell, B.; Elliott, R. W.: Localization of the gene for plasma retinol binding protein to the distal half of mouse chromosome 19. Genomics 9: 376-379, 1991.
[0029754]20342.Matsuo, T.: Familial retinol-binding-protein deficiency? (Letter) Lancet II: 910 only, 1987.
[0029755]20343.Matsuo, T.; Matsuo, N.; Shiraga, F.; Koide, N.: Familial retinol-binding-protein deficiency. (Letter) Lancet II: 402-403, 1987.
[0029756]20344.Morgan, F. F.; Canfield, R. E.; Goodman, D. S.: The partial structure of human plasma prealbumin and retinol-binding protein. Biochim. Biophys. Acta 236: 798-801, 1971.
[0029757]20345.Rask, L.; Anundi, H.; Fohlman, J.; Peterson, P. A.: The complete amino acid sequence of human serum retinol-binding protein. Upsala J. Med. Sci. 92: 115-146, 1987.
[0029758]20346.Rask, L.; Vahlquist, A.; Peterson, P. A.: Studies on two physiological forms of the human retinol-binding protein differing in vitamin A and arginine content. J. Biol. Chem. 246: 6638-6646, 1971.
[0029759]20347.Rocchi, M.; Covone, A.; Romeo, G.; Faraonio, R.; Colantuoni, V. : Regional mapping of RBP4 to 10q23-q24 and RBP1 to 3q21-q22 in man. Somat. Cell Molec. Genet. 15: 185-190, 1989.
[0029760]20348.Seeliger, M. W.; Biesalski, H. K.; Wissinger, B.; Gollnick, H.; Gielen, S.; Frank, J.; Beck, S.; Zrenner, E.: Phenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesis. Invest. Ophthal. Vis. Sci. 40: 3-11, 1999.
[0029761]20349.Thuluvath, P. J.: Familial retinol-binding-protein deficiency? (Letter) Lancet II: 910 only, 1987.
[0029762]20350.Carson, N. L.; Simpson, N. E.: A physical map of 13 markers on chromosome 10 from dosage studies on abnormal cell lines. (Abstract) Cytogenet. Cell Genet. 51: 974-975, 1989.
[0029763]20351.Chin, K. S.; Mathew, C. G. P.; Fong, S. L.; Bridges, C. D. B.; Ponder, B. A. J.: Styl RFLP recognised by a human IRBP cDNA localised to chromosome 10. Nucleic Acids Res. 16: 1645 only, 1988.
[0029764]20352.Danciger, M.; Kozak, C. A.; Nickerson, J.; Redmond, T. M.; Farber, D. B.: Localization of the gene for interphotoreceptor retinoid-binding protein to mouse chromosome 14 near Np-1. Genomics 8: 727-731, 1990.
[0029765]20353.Farrer, L. A.; Castiglione, C. M.; Kidd, J. R.; Myers, S.; Carson, N.; Simpson, N. E.; Kidd, K. K.: A linkage group of five DNA markers on human chromosome 10. Genomics 3: 72-77, 1988.
[0029766]20354.Fong, S.-L.; Liou, G. I.; Landers, R. A.; Alvarez, R. A.; Gonzalez-Fernandez, F.; Glazebrook, P. A.; Lam, D. M. K.; Bridges, C. D. B.: Characterization, localization, and biosynthesis of an interstitial retinol-binding glycoprotein in the human eye. J. Neurochem. 42: 1667-1676, 1984.
[0029767]20355.Liou, G. I.; Fong, S.-L.; Beattie, W. G.; Cook, R. G.; Leone, J.; Landers, R. A.; Alvarez, R. A.; Wang, C.; Li, Y.; Bridges, C. D. B. : Bovine interstitial retinol-binding protein (IRBP)--isolation and sequence analysis of cDNA clones, characterization and in vitro translation of mRNA. Vision Res. 26: 1645-1653, 1986.
[0029768]20356.Liou, G. I.; Fong, S.-L.; Gosden, J.; vanTuinen, P.; Ledbetter, D. H.; Christie, S.; Rout, D.; Bhattacharya, S.; Cook, R. G.; Li, Y.; Wang, C.; Bridges, C. D. B.: Human interstitial retinol-binding protein (IRBP): cloning, partial sequence, and chromosomal localization. Somat. Cell Molec. Genet. 13: 315-323, 1987.
[0029769]20357.Liou, G. I.; Li, Y.; Wang, C.; Fong, S.-L.; Bhattacharya, F. S.; Bridges, C. D. B.: Bgl II RFLP recognized by a human IRBP cDNA localized to chromosome 10. Nucleic Acids Res. 15: 3196 only, 1987.
[0029770]20358.McGuire, W.; Hill, A. V. S.; Allsopp, C. E. M.; Greenwood, B. M.; Kwiatkowski, D.: Variation in the TNF-alpha promoter region associated with susceptibility to cerebral malaria. Nature 371: 508-511, 1994.
[0029771]20359.Bruford, E. A.; Riise, R.; Teague, P. W.; Porter, K.; Thomson, K. L.; Moore, A. T.; Jay, M.; Warburg, M.; Schinzel, A.; Tommerup, N.; Tornqvist, K.; Rosenberg, T.; Patton, M.; Mansfield, D. C.; Wright, A. F.: Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21. Genomics 41: 93-99, 1997.
[0029772]20360.Benbrook, D.; Pfahl, M.: A novel thyroid hormone receptor encoded by a cDNA clone from a human testis library. Science 238: 788-791, 1987.
[0029773]20361.Bernal, J.; Refetoff, S.; DeGroot, L. J.: Abnormalities of triiodothyronine binding to lymphocyte and fibroblast nuclei from a patient with peripheral tissue resistance to thyroid hormone action. J. Clin. Endocr. Metab. 47: 1266-1272, 1978.
[0029774]20362.Dayton, A. I.; Selden, J. R.; Laws, G.; Dorney, D. J.; Finan, J.; Tripputi, P.; Emanuel, B. S.; Rovera, G.; Nowell, P. C.; Croce, C. M.: A human c-erbA oncogene homologue is closely proximal to the chromosome 17 breakpoint in acute promyelocytic leukemia. Proc. Nat. Acad. Sci. 81: 4495-4499, 1984.
[0029775]20363.Debuire, B.; Henry, C.; Benaissa, M.; Biserte, G.; Claverie, J. M.; Saule, S.; Martin, P.; Stehelin, D.: Sequencing the erbA gene of avian erythroblastosis virus reveals a new type of oncogene. Science 224: 1456-1459, 1984.
[0029776]20364.Ferro, M. T.; San Roman, C.: Constitutional t(15;17). Cancer Genet. Cytogenet. 4: 89-91, 1981.
[0029777]20365.Gullberg, H.; Rudling, M.; Forrest, D.; Angelin, B.; Vennstrom, B.: Thyroid hormone receptor beta-deficient mice show complete loss of the normal cholesterol 7-alpha-hydroxylase (CYP7A) response to thyroid hormone but display enhanced resistance to dietary cholesterol. Molec. Endocr. 14: 1739-1749, 2000.
[0029778]20366.Ichikawa, K.; Hughes, I. A.; Horwitz, A. L.; DeGroot, L. J.: Characterization of nuclear thyroid hormone receptors of cultured skin fibroblasts from patients with resistance to thyroid hormone. Metabolism 36: 392-399, 1987.
[0029779]20367.Iskaros, J.; Pickard, M.; Evans, I.; Sinha, A.; Hardiman, P.; Ekins, R.: Thyroid hormone receptor gene expression in first trimester human fetal brain. J. Clin. Endocr. Metab. 85: 2620-2623, 2000.
[0029780]20368.Jansson, M.; Philipson, L.; Vennstrom, B.: Isolation and characterization of multiple human genes homologous to the oncogenes of avian erythroblastosis virus. EMBO J. 2: 561-565, 1983.
[0029781]20369.Jhanwar, S. C.; Chaganti, R. S. K.; Croce, C. M.: Germ-line chromosomal localization of human c-erb-A oncogene. Somat. Cell Molec. Genet. 11: 99-102, 1985.
[0029782]20370.Kaneshige, M.; Suzuki, H.; Kaneshige, K.; Cheng, J.; Wimbrow, H.; Barlow, C.; Willingham, M. C.; Cheng, S.: A targeted dominant negative mutation of the thyroid hormone alpha-1 receptor causes increased mortality, infertility, and dwarfism in mice. Proc. Nat. Acad. Sci. 98: 15095-15100, 2001.
[0029783]20371.Laudet, V.; Begue, A.; Henry-Duthoit, C.; Joubel, A.; Martin, P.; Stehelin, D.; Saule, S.: Genomic organization of the human thyroid hormone receptor alpha (c-erbA-1) gene. Nucleic Acids Res. 19: 1105-1112, 1991.
[0029784]20372.Le Beau, M. M.; Westbrook, C. A.; Diaz, M. O.; Rowley, J. D.; Oren, M.: Translocation of the p53 gene in t(15;17) in acute promyelocytic leukaemia. Nature 316: 826-828, 1985.
[0029785]20373.Mathieu-Mahul, D.; Xu, D. Q.; Saule, S.; Lidereau, R.; Galibert, F.; Berger, R.; Mauchauffe, M.; Larsen, C. J.: An EcoRI restriction fragment length polymorphism (RFLP) in the human c-erb A locus. Hum. Genet. 71: 41-44, 1985.
[0029786]20374.McCabe, C. J.; Gittoes, N. J.; Sheppard, M. C.; Franklyn, J. A. : Thyroid receptor alpha-1 and alpha-2 mutations in nonfunctioning pituitary tumors. J. Clin. Endocr. Metab. 84: 649-653, 1999.
[0029787]20375.Menezes-Ferreira, M. M.; Eil, C.; Wortsman, J.; Weintraub, B. D.: Decreased nuclear uptake of [125-I]triiodo-L-thyronine in fibroblasts from patients with peripheral thyroid hormone resistance. J. Clin. Endocr. Metab. 59: 1081-1087, 1984.
[0029788]20376.Mitelman, F.; Manolov, G.; Manolova, Y.; Billstrom, R.; Heim, S.; Kristoffersson, U.; Mandahl, N.; Ferro, M. T.; San Roman, C.: High resolution chromosome analysis of constitutional and acquired t(15;17) maps c-erbA to subband 17q11.2. Cancer Genet. Cytogenet. 22: 95-98, 1986.
[0029789]20377.Miyajima, N.; Horiuchi, R.; Shibuya, Y.; Fukushige, S.; Matsubara, K.; Toyoshima, K.; Yamamoto, T.: Two erbA homologs encoding proteins with different T(3) binding capacities are transcribed from opposite DNA strands of the same genetic locus. Cell 57: 31-39, 1989.
[0029790]20378.Nagaya, T.; Nomura, Y.; Fujieda, M.; Seo, H.: Heterodimerization preferences of thyroid hormone receptor alpha isoforms. Biochem. Biophys. Res. Commun. 226: 426-430, 1996.
[0029791]20379.Nakai, A.; Seino, S.; Sakurai, A.; Szilak, I.; Bell, G. I.; DeGroot, L. J.: Characterization of a thyroid hormone receptor expressed in human kidney and other tissues. Proc. Nat. Acad. Sci. 85: 2781-2785, 1988.
[0029792]20380.Ng, L.; Rusch, A.; Amma, L. L.; Nordstrom, K.; Erway, L. C.; Vennstrom, B.; Forrest, D.: Suppression of the deafness and thyroid dysfunction in Thrb-null mice by an independent mutation in the Thra thyroid hormone receptor gene. Hum. Molec. Genet. 10: 2701-2708, 2001.
[0029793]20381.Puzianowska-Kuznicka, M.; Krystyniak, A.; Madej, A.; Cheng, S.-Y.; Nauman, J.: Functionally impaired TR mutants are present in thyroid papillary cancer. J. Clin. Endocr. Metab. 87: 1120-1128, 2002.
[0029794]20382.Refetoff, S.; DeGroot, L. J.; Benard, B.; DeWind, L. T.: Studies of a sibship with apparent hereditary resistance to the intracellular action of thyroid hormone. Metabolism 21: 723-756, 1972.
[0029795]20383.Rider, S. H.; Bailey, C. J.; Voss, R.; Sheer, D.; Hiorns, L. R.; Solomon, E.: RFLP for the human erb-A1 gene. Nucleic Acids Res. 15: 863 only, 1987.
[0029796]20384.Sakurai, A.; Nakai, A.; DeGroot, L. J.: Expression of three forms of thyroid hormone receptor in human tissues. Molec. Endocr. 3: 392-399, 1989.
[0029797]20385.Wolf, F. W.; Marks, R. M.; Sarma, V.; Byers, M. G.; Katz, R. W.; Shows, T. B.; Dixit, V. M.: Characterization of a novel tumor necrosis factor-alpha-induced endothelial primary response gene. J. Biol. Chem. 267: 1317-1326, 1992.
[0029798]20386.Pandey, A.; Lindberg, R. A.; Dixit, V. M.: Receptor orphans find a family. Curr. Biol. 5: 986-989, 1995.
[0029799]20387.Aaltonen, L.-M.; Chen, R. W.; Roth, S.; Makitie, A. A.; Rihkanen, H.; Vaheri, A.; Aaltonen, L. A.: Role of TP53 P72R polymorphism in human papillomavirus associated premalignant laryngeal neoplasm. J. Med. Genet. 38: 327 only, 2001.
[0029800]20388.Aas, T.; Borresen, A.-L.; Geisler, S.; Smith-Sorenson, B.; Johnsen, H.; Varhaug, J. E.; Akslen, L. A.; Lonning, P. E.: Specific P53 mutations are associated with de novo resistance to doxorubicin in breast cancer patients. Nature Med. 2: 811-814, 1996.
[0029801]20389.Aguilar, F.; Harris, C. C.; Sun, T.; Hollstein, M.; Cerutti, P. : Geographic variation of p53 mutational profile in nonmalignant human liver. Science 264: 1317-1319, 1994.
[0029802]20390.Aguilar, F.; Hussain, S. P.; Cerutti, P.: Aflatoxin B1 induces the transversion of G-to-T in codon 249 of the p53 tumor suppressor gene in human hepatocytes. Proc. Nat. Acad. Sci. 90: 8586-8590, 1993.
[0029803]20391.Ara, S.; Lee, P. S. Y.; Hansen, M. F.; Saya, H.: Codon 72 polymorphism of the TP53 gene. Nucleic Acids Res. 18: 4961, 1990.
[0029804]20392.Arai, M.; Shimizu, S.; Imai, Y.; Nakatsuru, Y.; Oda, H.; Oohara, T.; Ishikawa, T.: Mutations of the Ki-ras, p53 and APC genes in adenocarcinomas of the human small intestine. Int. J. Cancer 70: 390-395, 1997.
[0029805]20393.Baker, S. J.; Fearon, E. R.; Nigro, J. M.; Hamilton, S. R.; Preisinger, A. C.; Jessup, J. M.; vanTuinen, P.; Ledbetter, D. H.; Barker, D. F.; Nakamura, Y.; White, R.; Vogelstein, B.: Chromosome 17 deletions and p53 gene mutations in colorectal carcinomas. Science 244: 217-221, 1989.
[0029806]20394.Benchimol, S.; Lamb, P.; Crawford, L. V.; Sheer, D.; Shows, T. B.; Bruns, G. A. P.; Peacock, J.: Transformation associated p53 protein is encoded by a gene on human chromosome 17. Somat. Cell Molec. Genet. 11: 505-509, 1985.
[0029807]20395.Bernal, J. A.; Luna, R.; Espina, A.; Lazaro, I.; Ramos-Morales, F.; Romero, F.; Arias, C.; Silva, A.; Tortolero, M.; Pintor-Toro, J. A.: Human securin interacts with p53 and modulates p53-mediated transcriptional activity and apoptosis. Nature Genet. 32: 306-311, 2002.
[0029808]20396.Beroud, C.; Verdier, F.; Soussi, T.: p53 gene mutation: software and database. Nucleic Acids Res. 24: 147-150, 1996.
[0029809]20397.Borresen, A.-L.; Hovig, E.; Smith-Sorensen, B.; Malkin, D.; Lystad, S.; Andersen, T. I.; Nesland, J. M.; Isselbacher, K. J.; Friend, S. H.: Constant denaturant gel electrophoresis as a rapid screening technique for p53 mutations. Proc. Nat. Acad. Sci. 88: 8405-8409, 1991.
[0029810]20398.Borresen, A. L.; Andersen, T. I.; Garber, J.; Barbier-Piraux, N.; Thorlacius, S.; Eyfjord, J.; Ottestad, L.; Smith-Sorensen, B.; Hovig, E.; Malkin, D.; Friend, S. H.: Screening for germ line TP53 mutations in breast cancer patients. Cancer Res. 52: 3234-3236, 1992.
[0029811]20399.Brash, D. E.; Rudolph, J. A.; Simon, J. A.; Lin, A.; McKenna, G. J.; Baden, H. P.; Halperin, A. J.; Ponten, J.: A role for sunlight in skin cancer: UV-induced p53 mutations in squamous cell carcinoma. Proc. Nat. Acad. Sci. 88: 10124-10128, 1991.
[0029812]20400.Brennan, J. A.; Boyle, J. O.; Koch, W. M.; Goodman, S. N.; Hruban, R. H.; Eby, Y. J.; Couch, M. J.; Forastiere, A. A.; Sidransky, D. : Association between cigarette smoking and mutation of the p53 gene in squamous-cell carcinoma of the head and neck. New Eng. J. Med. 332: 712-717, 1995.
[0029813]20401.Bressac, B.; Kew, M.; Wands, J.; Ozturk, M.: Selective G to T mutations of p53 gene in hepatocellular carcinoma from southern Africa. Nature 350: 429-431, 1991.
[0029814]20402.Brodsky, M. H.; Nordstrom, W.; Tsang, G.; Kwan, E.; Rubin, G. M.; Abrams, J. M.: Drosophila p53 binds a damage response element at the reaper locus. Cell 101: 103-113, 2000.
[0029815]20403.Buetow, K. H.; Sheffield, V. C.; Zhu, M.; Zhou, T.; Shen, F.; Hino, O.; Smith, M.; McMahon, B. J.; Lanier, A. P.; London, W. T.; Redeker, A. G.; Govindarajan, S.: Low frequency of p53 mutations observed in a diverse collection of primary hepatocellular carcinomas. Proc. Nat. Acad. Sci. 89: 9622-9626, 1992.
[0029816]20404.Bunz, F.; Dutriaux, A.; Lengauer, C.; Waldman, T.; Zhou, S.; Brown, J. P.; Sedivy, J. M.; Kinzler, K. W.; Vogelstein, B.: Requirement for p53 and p21 to sustain G2 arrest after DNA damage. Science 282: 1497-1501, 1998.
[0029817]20405.Caelles, C.; Helmberg, A.; Karin, M.: p53-dependent apoptosis in the absence of transcriptional activation of p53-target genes. Nature 370: 220-223, 1994.
[0029818]20406.Colucci-Guyon, E.; Portier, M.-M.; Dunia, I.; Paulin, D.; Pournin, S.; Babinet, C.: Mice lacking vimentin develop and reproduce without an obvious phenotype. Cell 79: 679-694, 1994.
[0029819]20407.Ferrari, S.; Battini, R.; Kaczmarek, L.; Rittling, S.; Calabretta, B.; de Riel, J. K.; Philiponis, V.; Weil, J.-F.; Baserga, R.: Coding sequence and growth regulation of the human vimentin gene. Molec. Cell. Biol. 6: 3614-3620, 1986.
[0029820]20408.Gieser, L.; Swaroop, A.: Expressed sequence tags and chromosomal localization of cDNA clones from a subtracted retinal pigment epithelium library. Genomics 13: 873-876, 1992.
[0029821]20409.Lilienbaum, A.; Legagneux, V.; Portier, M.-M.; Dellagi, K.; Paulin, D.: Vimentin gene: expression in human lymphocytes and in Burkitt's lymphoma cells. EMBO J. 5: 2809-2814, 1986.
[0029822]20410.Marcus, E. M.; Smith, B. A.; Telenius, H.; Landsvater, R. M.; Buys, C. H. C. M.; Ferrari, S.; Ponder, B. A. J.; Mathew, C. G. P.: BclI RFLP for the human vimentin gene. Nucleic Acids Res. 16: 9068 only, 1988.
[0029823]20411.Mathew, C. G.; Wakeling, W.; Jones, E.; Easton, D.; Fisher, R.; Strong, C.; Smith, B.; Chin, K.; Little, P.; Nakamura, Y.; Shows, T. B.; Jones, C.; Goodfellow, P. J.; Povey, S.; Ponder, B. A. J.: Regional localization of polymorphic markers on chromosome 10 by physical and genetic mapping. Ann. Hum. Genet. 54: 121-129, 1990.
[0029824]20412.Perreau, J.; Lilienbaum, A.; Vasseur, M.; Paulin, D.: Nucleotide sequence of the human vimentin gene and regulation of its transcription in tissues and cultured cells. Gene 62: 7-16, 1988.
[0029825]20413.Gimona, M.; Small, J. V.; Moeremans, M.; Van Damme, J.; Puype, M.; Vandekerckhove, J.: Porcine vinculin and metavinculin differ by a 68-residue insert located close to the carboxy-terminal part of the molecule. EMBO J. 7: 2329-2334, 1988.
[0029826]20414.Mulligan, L. M.; Gardner, E.; Telenius, H.; Ponder, B. A. J.: Complementary physical and genetic techniques map the vinculin (VCL) gene on chromosome 10q. Genomics 13: 1347-1349, 1992.
[0029827]20415.Strasser, P.; Gimona, M.; Herzog, M.; Geiger, B.; Small, J. V. : Variable and constant regions in the C-terminus of vinculin and metavinculin: cloning and expression of fragments in E. coli. FEBS Lett. 317: 189-194, 1993.
[0029828]20416.Koteliansky, V. E.; Ogryzko, E. P.; Zhidkova, N. I.; Weller, P. A.; Critchley, D. R.; Vancompernolle, K.; Vandekerckhove, J.; Strasser, P.; Way, M.; Gimona, M.; Small, J. V.: An additional exon in the human vinculin gene specifically encodes meta-vinculin-specific difference peptide: crossspecies comparison reveals variable and conserved motifs in the meta-vinculin insert. Europ. J. Biochem. 204: 767-772, 1992.
[0029829]20417.Turner, C. E.; Burridge, K.: Detection of metavinculin in human platelets using a modified talin overlay assay. Europ. J. Cell Biol. 49: 202-206, 1989.
[0029830]20418.Weller, P. A.; Ogryzko, E. P.; Corben, E. B.; Zhidkova, N. I.; Patel, B.; Price, G. J.; Spurr, N. K.; Koteliansky, V. E.; Critchley, D. R.: Complete sequence of human vinculin and assignment of the gene to chromosome 10. Proc. Nat. Acad. Sci. 87: 5667-5671, 1990.
[0029831]20419.Katsanis, N.; Ansley, S. J.; Badano, J. L.; Eichers, E. R.; Lewis, R. A.; Hoskins, B. E.; Scambler, P. J.; Davidson, W. S.; Beales, P. L.; Lupski, J. R.: Triallelic inheritance in Bardet-Biedl syndrome, a mendelian recessive disorder. Science 293: 2256-2259, 2001.
[0029832]20420.Katsanis, N.; Beales, P. L.; Woods, M. O.; Lewis, R. A.; Green, J. S.; Parfrey, P. S.; Ansley, S. J.; Davidson, W. S.; Lupski, J. R.: Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. Nature Genet. 26: 67-70, 2000.
[0029833]20421.Kwitek-Black, A. E.; Carmi, R.; Duyk, G. M.; Buetow, K. H.; Elbedour, K.; Parvari, R.; Yandava, C. N.; Stone, E. M.; Sheffield, V. C.: Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity. Nature Genet. 5: 392-396, 1993.
[0029834]20422.Ishii, H.; Majerus, P. W.: Thrombomodulin is present in human plasma and urine. J. Clin. Invest. 76: 2178-2181, 1985.
[0029835]20423.Gabreels, B. A. T. F.; Swaab, D. F.; de Kleijn, D. P. V.; Seidah, N. G.; Van de Loo, J.-W.; Van de Ven, W. J. M.; Martens, G. J. M.; van Leeuwen, F. W.: Attenuation of the polypeptide 7B2, prohormone convertase PC2, and vasopressin in the hypothalamus of some Prader-Willi patients: indications for a processing defect. J. Clin. Endocr. Metab. 83: 591-599, 1998.
[0029836]20424.Bell, K.; Hopper, K. E.; McKenzie, H. A.; Murphy, W. H.; Shaw, D. C.: A comparison of bovine alpha-lactalbumin A and B of Droughtmaster. Biochim. Biophys. Acta 214: 437-444, 1970.
[0029837]20425.Bell, K.; McKenzie, H. A.; Murphy, W. H.; Shaw, D. C.: Beta-lactoglobulin (Droughtmaster): a unique protein variant. Biochim. Biophys. Acta 214: 427-436, 1970.
[0029838]20426.Julkunen, M.; Seppala, M.; Janne, O. A.: Complete amino acid sequence of human placental protein 14: a progesterone-regulated uterine protein homologous to beta-lactoglobulins. Proc. Nat. Acad. Sci. 85: 8845-8849, 1988.
[0029839]20427.Morris, H. R.; Dell, A.; Easton, R. L.; Panico, M.; Koistinen, H.; Koistinen, R.; Oehninger, S.; Patankar, M. S.; Seppala, M.; Clark, G. F.: Gender-specific glycosylation of human glycodelin affects its contraceptive activity. J. Biol. Chem. 271: 32159-32167, 1996.
[0029840]20428.Song, M.; Ramaswamy, S.; Ramachandran, S.; Flowers, L. C.; Horowitz, I. R.; Rock, J. A.; Parthasarathy, S.: Angiogenic role for glycodelin in tumorigenesis. Proc. Nat. Acad. Sci. 98: 9265-9270, 2001.
[0029841]20429.Van Cong, N.; Vaisse, C.; Gross, M.-S.; Slim, R.; Milgrom, E.; Bernheim, A.: The human placental protein 14 (PP14) gene is localized on chromosome 9q34. Hum. Genet. 86: 515-518, 1991.
[0029842]20430.Lee, F. S.; Fox, E. A.; Zhou, H.-M.; Strydom, D. J.; Vallee, B. L.: Primary structure of human placental ribonuclease inhibitor. Biochemistry 27: 8545-8553, 1988.
[0029843]20431.Weremowicz, S.; Fox, E. A.; Morton, C. C.; Vallee, B. L.: The placental ribonuclease inhibitor (RNH) gene is located on chromosome subband 11p15.5. Genomics 8: 717-721, 1990.
[0029844]20432.Zneimer, S. M.; Crawford, D.; Schneider, N. R.; Beutler, B.: Mapping of the human ribonuclease inhibitor gene (RNH) to chromosome 11p15 by in situ hybridization. Genomics 8: 175-178, 1990.
[0029845]20433.Coughlin, P.; Nicholl, J.; Sun, J.; Salem, H.; Bird, P.; Sutherland, G. R.: Chromosomal mapping of the human proteinase inhibitor 6 (PI6) gene to 6p25 by fluorescence in situ hybridization. Genomics 26: 431-433, 1995.
[0029846]20434.Coughlin, P.; Sun, J.; Cerruti, L.; Salem, H. H.; Bird, P.: Cloning and molecular characterization of a human intracellular serine proteinase inhibitor. Proc. Nat. Acad. Sci. 90: 9417-9421, 1993.
[0029847]20435.Zhang, K.; Westberg, J. A.; Paetau, A.; von Boguslawsky, K.; Lindsberg, P.; Erlander, M.; Guo, H.; Su, J.; Olsen, H. S.; Andersson, L. C. : High expression of stanniocalcin in differentiated brain neurons. Am. J. Path. 153: 439-445, 1998.
[0029848]20436.Hamilton, S. E.; Hurley, J. B.: A phosphodiesterase inhibitor specific to a subset of bovine retinal cones. J. Biol. Chem. 265: 11259-11264, 1990.
[0029849]20437.Shimizu-Matsumoto, A.; Itoh, K.; Inazawa, J.; Nishida, K.; Matsumoto, Y.; Kinoshita, S.; Matsubara, K.; Okubo, K.: Isolation and chromosomal localization of the human cone cGMP phosphodiesterase gamma cDNA (PDE6H). Genomics 32: 121-124, 1996.
[0029850]20438.Isomura, M.; Okui, K.; Fujiwara, T.; Shin, S.; Nakamura, Y.: Cloning and mapping of a novel human cDNA homologous to DROER, the enhancer of the Drosophila melanogaster rudimentary gene. Genomics 32: 125-127, 1996.
[0029851]20439.Chen, J.; Engle, S. J.; Seilhamer, J. J.; Tischfield, J. A.: Cloning and recombinant expression of a novel human low molecular weight Ca(2+)-dependent phospholipase A2. J. Biol. Chem. 269: 2365-2368, 1994.
[0029852]20440.Tischfield, J. A.; Xia, Y.-R.; Shih, D. M.; Klisak, I.; Chen, J.; Engle, S. J.; Siakotos, A. N.; Winstead, M. V.; Seilhamer, J. J.; Allamand, V.; Gyapay, G.; Lusis, A. J.: Low molecular weight, calcium-dependent phospholipase A(2) genes are linked and map to homologous chromosome regions in mouse and human. Genomics 32: 328-333, 1996.
[0029853]20441.Hayashi, M.; Fujimoto, S.; Takano, H.; Ushiki, T.; Abe, K.; Ishikura, H.; Yoshida, M. C.; Kirchhoff, C.; Ishibashi, T.; Kasahara, M.: Characterization of a human glycoprotein with a potential role in sperm-egg fusion: cDNA cloning, immunohistochemical localization, and chromosomal assignment of the gene (AEGL1). Genomics 32: 367-374, 1996.
[0029854]20442.Muzio, M.; Bosisio, D.; Polentarutti, N.; D'amico, G.; Stoppacciaro, A.; Mancinelli, R.; van't Veer, C.; Penton-Rol, G.; Ruco, L. P.; Allavena, P.; Mantovani, A.: Differential expression and regulation of Toll-like receptors (TLR) in human leukocytes: selective expression of TLR3 in dendritic cells. J. Immun. 164: 5998-6004, 2000.
[0029855]20443.Rock, F. L.; Hardiman, G.; Timans, J. C.; Kastelein, R. A.; Bazan, J. F.: A family of human receptors structurally related to Drosophila Toll. Proc. Nat. Acad. Sci. 95: 588-593, 1998.
[0029856]20444.Perrimon, N.; Mahowald, A. P.: Multiple functions of segment polarity genes in Drosophila. Dev. Biol. 119: 587-600, 1987.
[0029857]20445.Pizzuti, A.; Novelli, G.; Mari, A.; Ratti, A.; Colosimo, A.; Amati, F.; Penso, D.; Sangiuolo, F.; Calabrese, G.; Palka, G.; Silani, V.; Gennarelli, M.; Mingarelli, R.; Scarlato, G.; Scambler, P.; Dallapiccola, B.: Human homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndrome. Am. J. Hum. Genet. 58: 722-729, 1996.
[0029858]20446.Onyango, P.; Lubyova, B.; Gardellin, P.; Kurzbauer, R.; Weith, A.: Molecular cloning and expression analysis of five novel genes in chromosome 1p36. Genomics 50: 187-198, 1998.
[0029859]20447.Barbier, M.; Attoub, S.; Calvez, R.; Laffargue, M.; Jarry, A.; Mareel, M.; Altruda, F.; Gespach, C.; Wu, D.; Lu, B.; Hirsch, E.; Wymann, M. P.: Weakening link to colorectal cancer? Nature 413: 796 only, 2001.
[0029860]20448.Crackower, M. A.; Oudit, G. Y.; Kozieradzki, I.; Sarao, R.; Sun, H.; Sasaki, T.; Hirsch, E.; Suzuki, A.; Shioi, T.; Irie-Sasaki, J.; Sah, R.; Cheng, H.-Y. M.; and 13 others: Regulation of myocardial contractility and cell size by distinct PI3K-PTEN signaling pathways. Cell 110: 737-749, 2002.
[0029861]20449.Hirsch, E.; Katanaev, V. L.; Garlanda, C.; Azzolino, O.; Pirola, L.; Silengo, L.; Sozzani, S.; Mantovani, A.; Altruda, F.; Wymann, M. P.: Central role for G protein-coupled phosphoinositide 3-kinase gamma in inflammation. Science 287: 1049-1053, 2000.
[0029862]20450.Jiang, K.; Zhong, B.; Gilvary, D. L.; Corliss, B. C. Hong-Geller, E.; Wei, S; Djeu, J. Y.: Pivotal role of phosphoinositide-3 kinase in regulation of cytotoxicity in natural killer cells. Nature Immun. 1: 419-425, 2000.
[0029863]20451.Kikuta, Y.; Kato, M.; Yamashita, Y.; Miyauchi, Y.; Tanaka, K.; Kamada, N.; Kusunose, M.: Human leukotriene B4 omega-hydroxylase (CYP4F3) gene: molecular cloning and chromosomal localization. DNA Cell Biol. 17: 221-230, 1998.
[0029864]20452.Kikuta, Y.; Kusunose, E.; Endo, K.; Yamamoto, S.; Sogawa, K.; Fujii-Kuriyama, Y.; Kusunose, M.: A novel form of cytochrome P-450 family 4 in human polymorphonuclear leukocytes: cDNA cloning and expression of leukotriene B4 omega-hydroxylase. J. Biol. Chem. 268: 9376-9380, 1993.
[0029865]20453.Hamra, F. K.; Forte, L. R.; Eber, S. L.; Pidhorodeckyj, N. V.; Krause, W. J.; Freeman, R. H.; Chin, D. T.; Tompkins, J. A.; Fok, K. F.; Smith, C. E.; Duffin, K. L.; Siegel, N. R.; Currie, M. G.: Uroguanylin: structure and activity of a second endogenous peptide that stimulates intestinal guanylate cyclase. Proc. Nat. Acad. Sci. 90: 10464-10468, 1993.
[0029866]20454.Kita, T.; Smith, C. E.; Fok, K. F.; Duffin, K. L.; Moore, W. M.; Karabatsos, P. J.; Kachur, J. F.; Hamra, F. K.; Pidhorodeckyj, N. V.; Forte, L. R.; Currie, M. G.: Characterization of human uroguanylin: a member of the guanylin peptide family. Am. J. Physiol. 266: F342-F348, 1994.
[0029867]20455.Miyazato, M.; Nakazato, M.; Matsukura, S.; Kangawa, K.; Matsuo, H.: Genomic structure and chromosomal localization of human uroguanylin. Genomics 43: 359-365, 1997.
[0029868]20456.Whitaker, T. L.; Steinbrecher, K. A.; Copeland, N. G.; Gilbert, D. J.; Jenkins, N. A.; Cohen, M. B.: The uroguanylin gene (Guca1b) is linked to guanylin (Guca2) on mouse chromosome 4. Genomics 45: 348-354, 1997.
[0029869]20457.Haft, C. R.; de la Luz Sierra, M.; Barr, V. A.; Haft, D. H.; Taylor, S. I.: Identification of a family of sorting nexin molecules and characterization of their association with receptors. Molec. Cell. Biol. 18: 7278-7287, 1998.
[0029870]20458.Kurten, R. C.; Cadena, D. L.; Gill, G. N.: Enhanced degradation of EGF receptors by a sorting nexin, SNX1. Science 272: 1008-1010, 1996.
[0029871]20459.Zhong, Q.; Lazar, C. S.; Tronchere, H.; Sato, T.; Meerloo, T.; Yeo, M.; Songyang, Z.; Emr, S. D.; Gill, G. N.: Endosomal localization and function of sorting nexin 1. Proc. Nat. Acad. Sci. 99: 6767-6772, 2002.
[0029872]20460.Klingensmith, J.; Nusse, R.; Perrimon, N.: The Drosophila segment polarity gene dishevelled encodes a novel protein required for response to wingless signal. Genes Dev. 8: 118-130, 1994.
[0029873]20461.Holmes, S. E.; Riazi, M. A.; Gong, W.; McDermid, H. E.; Sellinger, B. T.; Hua, A.; Chen, F.; Wang, Z.; Zhang, G.; Roe, B.; Gonzalez, I.; McDonald-McGinn, D. M.; Zackai, E.; Emanuel, B. S.; Budarf, M. L.: Disruption of the clathrin heavy chain-like gene (CLTCL) associated with features of DGS/VCFS: a balanced (21;22)(p12;q11) translocation. Hum. Molec. Genet. 6: 357-367, 1997.
[0029874]20462.Kedra, D.; Peyrard, M.; Fransson, I.; Collins, J. E.; Dunham, I.; Roe, B. A.; Dumanski, J. P.: Characterization of a second human clathrin heavy chain polypeptide gene (CLH-22) from chromosome 22q11. Hum. Molec. Genet. 5: 625-631, 1996.
[0029875]20463.Long, K. R.; Trofatter, J. A.; Ramesh, V.; McCormick, M. K.; Buckler, A. J.: Cloning and characterization of a novel human clathrin heavy chain gene (CLTCL). Genomics 35: 466-472, 1996.
[0029876]20464.Lagenaur, C.; Kunemund, V.; Fischer, G.; Fushiki, S.; Schachner, M.: Monoclonal M6 antibody interferes with neurite extension of cultured neurons. J. Neurobiol. 23: 71-88, 1992.
[0029877]20465.Shimizu, F.; Watanabe, T. K.; Fujiwara, T.; Takahashi, E.; Nakamura, Y.; Maekawa, H.: Isolation and mapping of the human glycoprotein M6 gene (GPM6A) to 4q33-to-q34. Cytogenet. Cell Genet. 74: 138-139, 1996.
[0029878]20466.Bui, T. D.; Beier, D. R.; Jonssen, M.; Smith, K.; Dorrington, S. M.; Kaklamanis, L.; Kearney, L.; Regan, R.; Sussman, D. J.; Harris, A. L.: cDNA cloning of a human dishevelled DVL-3 gene, mapping to 3q27, and expression in human breast and colon carcinomas. Biochem. Biophys. Res. Commun. 239: 510-516, 1997.
[0029879]20467.Scheffner, M.; Huibregtse, J. M.; Vierstra, R. D.; Howley, P. M.: The HPV-16 E6 and E6-AP complex functions as a ubiquitin-protein ligase in the ubiquitination of p53. Cell 75: 495-505, 1993.
[0029880]20468.Cheng, Y.-S. E.; Patterson, C. E.; Staeheli, P.: Interferon-induced guanylate-binding proteins lack an N(T)KXD consensus motif and bind GMP in addition to GDP and GTP. Molec. Cell. Biol. 11: 4717-4725, 1991.
[0029881]20469.Kumar, S.; Li, Q.; Dua, A.; Ying, Y.-K.; Bagchi, M. K.; Bagchi, I. C.: Messenger ribonucleic acid encoding interferon-inducible guanylate binding protein 1 is induced in human endometrium within the putative window of implantation. J. Clin. Endocr. Metab. 86: 2420-2427, 2001.
[0029882]20470.Prochazka, M.; Staeheli, P.; Holmes, R. S.; Haller, O.: Interferon-induced guanylatebinding proteins: mapping of the murine Gbp-1 locus to chromosome 3. Virology 145: 273-279, 1985.
[0029883]20471.Strehlow, I.; Lohmann-Matthes, M. L.; Decker, T.: The interferon-inducible GBP1 gene: structure and mapping to human chromosome 1. Gene 144: 295-299, 1994.
[0029884]20472.Scheffner, M.; Werness, B. A.; Huibregtse, J. M.; Levine, A. J.; Howley, P. M.: The E6 oncoprotein encoded by human papillomavirus types 16 and 18 promotes the degradation of p53. Cell 63: 1129-1136, 1990.
[0029885]20473.Tsai, T.-F.; Raas-Rothschild, A.; Ben-Neriah, Z.; Beaudet, A. L.: Prenatal diagnosis and carrier detection for a point mutation in UBE3A causing Angelman syndrome. (Letter) Am. J. Hum. Genet. 63: 1561-1563, 1998.
[0029886]20474.Vu, T. H.; Hoffman, A. R.: Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain. (Letter) Nature Genet. 17: 12-13, 1997.
[0029887]20475.Avraham, K. B.; Prezioso, V. R.; Chen, W. S.; Lai, E.; Sladek, F. M.; Zhong, W.; Darnell, J. E., Jr.; Jenkins, N. A.; Copeland, N. G.: Murine chromosomal location of four hepatocyteenriched transcription factors: HNF-3-alpha, HNF3-beta, HNF-3-gamma, and HFN-4. Genomics 13: 264-268, 1992.
[0029888]20476.Chartier, F. L.; Bossu, J.-P.; Laudet, V.; Fruchart, J.-C.: Cloning and sequencing of cDNAs encoding the human hepatocyte nuclear factor 4 indicate the presence of two isoforms in human liver. Gene 147: 269-272, 1994.
[0029889]20477.Eeckhoute, J.; Formstecher, P.; Laine, B.: Maturity-onset diabetes of the young type 1 (MODY1)-associated mutations R154X and E276Q in hepatocyte nuclear factor 4-alpha (HNF4-alpha) gene impair recruitment of p300, a key transcriptional coactivator. Molec. Endocr. 15: 1200-1210, 2001.
[0029890]20478.Furuta, H.; Iwasaki, N.; Oda, N.; Hinokio, Y.; Horikawa, Y.; Yamagata, K.; Yano, N.; Sugahiro, J.; Ogata, M.; Ohgawara, H.; Omori, Y.; Iwamoto, Y.; Bell, G. I.: Organization and partial sequence of the hepatocyte nuclear factor-4-alpha/MODY1 gene and identification of a missense mutation, R127W, in a Japanese family with MODY. Diabetes 46: 1652-1657, 1997.
[0029891]20479.Hani, E. H.; Suaud, L.; Boutin, P.; Chevre, J.-C.; Durand, E.; Philippi, A.; Demenais, F.; Vionnet, N.; Furuta, H.; Velho, G.; Bell, G. I.; Laine, B.; Froguel, P.: A missense mutation in hepatocyte nuclear factor-4-alpha, resulting in a reduced transactivation activity, in human late-onset noninsulin-dependent diabetes mellitus. J. Clin. Invest. 101: 521-526, 1998.
[0029892]20480.Lausen, J.; Thomas, H.; Lemm, I.; Bulman, M.; Borgschulze, M.; Lingott, A.; Hattersley, A. T.; Ryffel, G. U.: Naturally occurring mutations in the human HNF4-alpha gene impair the function of the transcription factor to a varying degree. Nucleic Acids Res. 28: 430-437, 2000.
[0029893]20481.Li, J.; Ning, G.; Duncan, S. A.: Mammalian hepatocyte differentiation requires the transcription factor HNF-4-alpha. Genes Dev. 14: 464-474, 2000.
[0029894]20482.Stoffel, M.; Duncan, S. A.: The maturity-onset diabetes of the young (MODY1) transcription factor HNF4-alpha regulates expression of genes required for glucose transport and metabolism. Proc. Nat. Acad. Sci. 94: 13209-13214, 1997.
[0029895]20483.Yamagata, K.; Furuta, H.; Oda, N.; Kaisaki, P. J.; Menzel, S.; Cox, N. J.; Fajans, S. S.; Signorini, S.; Stoffel, M.; Bell, G. I. : Mutations in the hepatocyte nuclear factor-4-alpha gene in maturity-onset diabetes of the young (MODY1). Nature 384: 458-460, 1996.
[0029896]20484.Zouali, H.; Hani, E. H.; Philippi, A.; Vionnet, N.; Beckmann, J. S.; Demenais, F.; Froguel, P.: A susceptibility locus for early-onset non-insulin dependent (type 2) diabetes mellitus maps to chromosome 20q, proximal to the phosphoenolpyruvate carboxykinase gene. Hum. Molec. Genet. 6: 1401-1408, 1997.
[0029897]20485.Frolova, L.; Le Goff, X.; Rasmussen, H. H.; Cheperegin, S.; Drugeon, G.; Kress, M.; Arman, I.; Haenni, A.-L.; Celis, J. E.; Philippe, M.; Justesen, J.; Kisselev, L.: A highly conserved eukaryotic protein family possessing properties of polypeptide chain release factor. Nature 372: 701-703, 1994.
[0029898]20486.Guenet, L.; Henry, C.; Toutain, B.; Dubourg, C.; Le Gall, J. Y.; David, V.; Le Treut, A.: Eukaryotic translation termination factor gene (ETF1/eRF1) maps at D5S500 in a commonly deleted region of chromosome 5q31 in malignant myeloid diseases. Cytogenet. Cell Genet. 88: 82-86, 2000.
[0029899]20487.Hansen, L. L.; Jakobsen, C. G.; Justesen, J.: Assignment of the human translation termination factor 1 (ETF1) to 5q31.1 and of the proximal marker D5S1995 by radiation hybrid mapping. Cytogenet. Cell Genet. 87: 256-257, 1999.
[0029900]20488.Le Goff, X.; Philippe, M.; Jean-Jean, O.: Overexpression of human release factor 1 alone has an antisuppressor effect in human cells. Molec. Cell Biol. 17: 3164-3172, 1997.
[0029901]20489.Song, H.; Mugnier, P.; Das, A. K.; Webb, H. M.; Evans, D. R.; Tuite, M. F.; Hemmings, B. A.; Barford, D.: The crystal structure of human eukaryotic release factor eRF1--mechanism of stop codon recognition and peptidyl-tRNA hydrolysis. Cell 100: 311-321, 2000.
[0029902]20490.Liu, Q.; Fischer, U.; Wang, F.; Dreyfuss, G.: The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins. Cell 90: 1013-1021, 1997.
[0029903]20491.Meister, G.; Buhler, D.; Laggerbauer, B.; Zobawa, M.; Lottspeich, F.; Fischer, U.: Characterization of a nuclear 20S complex containing the survival of motor neurons (SMN) protein and a specific subset of spliceosomal Sm proteins. Hum. Molec. Genet. 9: 1977-1986, 2000.
[0029904]20492.Aramburu, J.; Garcia-Cozar, F.; Raghavan, A.; Okamura, H.; Rao, A.; Hogan, P. G.: Selective inhibition of NFAT activation by a peptide spanning the calcineurin targeting site of NFAT. Molec. Cell 1: 627-637, 1998.
[0029905]20493.Castigli, E.; Pahwa, R.; Good, R. A.; Geha, R. S.; Chatila, T. A.: Molecular basis of a multiple lymphokine deficiency in a patient with severe combined immunodeficiency. Proc. Nat. Acad. Sci. 90: 4728-4732, 1993.
[0029906]20494.Chatila, T.; Castigli, E.; Pahwa, R.; Pahwa, S.; Chirmule, N.; Oyaizu, N.; Good, R. A.; Geha, R. S.: Primary combined immunodeficiency resulting from defective transcription of multiple Tcell lymphokine genes. Proc. Nat. Acad. Sci. 87: 10033-10037, 1990.
[0029907]20495.Horsley, V.; Pavlath, G. K.: NFAT: ubiquitous regulator of cell differentiation and adaptation. J. Cell Biol. 156: 771-774, 2002.
[0029908]20496.Jauliac, S.; Lopez-Rodriguez, C.; Shaw, L. M.; Brown, L. F.; Rao, A.; Toker, A.: The role of NFAT transcription factors in integrin-mediated carcinoma invasion. Nature Cell Biol. 4: 540-544, 2002.
[0029909]20497.Li, X.; Ho, S. N.; Luna, J.; Giacalone, J.; Thomas, D. J.; Timmerman, L. A.; Crabtree, G. R.; Francke, U.: Cloning and chromosomal localization of the human and murine genes for the T-cell transcription factors NFATc and NFATp. Cytogenet. Cell Genet. 68: 185-191, 1995.
[0029910]20498.Northrop, J. P.; Ho, S. N.; Chen, L.; Thomas, D. J.; Timmerman, L. A.; Nolan, G. P.; Admon, A.; Crabtree, G. R.: NF-AT components define a family of transcription factors targeted in T-cell activation. Nature 369: 497-502, 1994.
[0029911]20499.Okamura, H.; Aramburu, J.; Garcia-Rodriguez, C.; Viola, J. P. B.; Raghavan, A.; Tahiliani, M.; Zhang, X.; Qin, J.; Hogan, P. G.; Rao, A.: Concerted dephosphorylation of the transcription factor NFAT1 induces a conformational switch that regulates transcriptional activity. Molec. Cell 6: 539-550, 2000.
[0029912]20500.Pahwa, R.; Chatila, T.; Pahwa, S.; Paradise, C.; Day, N. K.; Geha, R.; Schwartz, S. A.; Slade, H.; Oyaizu, N.; Good, R. A.: Recombinant interleukin 2 therapy in severe combined immunodeficiency disease. Proc. Nat. Acad. Sci. 86: 5069-5073, 1989.
[0029913]20501.Park, J.; Takeuchi, A.; Sharma, S.: Characterization of a new isoform of the NFAT (nuclear factor of activated T cells) gene family member NFATc. J. Biol. Chem. 271: 20914-20921, 1996.
[0029914]20502.Peng, S. L.; Gerth, A. J.; Ranger, A. M.; Glimcher, L. H.: NFATc1 and NFATc2 together control both T and B cell activation and differentiation. Immunity 14: 13-20, 2001.
[0029915]20503.Aoki, K.; Suzuki, K.; Sugano, T.; Tasaka, T.; Nakahara, K.; Kuge, O.; Omori, A.; Kasai, M.: A novel gene, 'Translin,' encodes a recombination hotspot binding protein associated with chromosomal translocations. Nature Genet. 10: 167-174, 1995.
[0029916]20504.Badge, R. M.; Yardley, J.; Jeffreys, A. J.; Armour, J. A. L.: Crossover breakpoint mapping identifies a subtelomeric hotspot for male meiotic recombination. Hum. Molec. Genet. 9: 1239-1244, 2000.
[0029917]20505.Hosaka, T.; Kanoe, H.; Nakayama, T.; Murakami, H.; Yamamoto, H.; Nakamata, T.; Tsuboyama, T.; Oka, M.; Kasai, M.; Sasaki, M. S.; Nakamura, T.; Toguchida, J.: Translin binds to the sequences adjacent to the breakpoints of the TLS and CHOP genes in liposarcomas with translocation t(12;16). Oncogene 19: 5821-5825, 2000.
[0029918]20506.Kasai, M.; Aoki, K.; Matsuo, Y.; Minowada, J.; Maziarz, R. T.; Strominger, J. L.: Recombination hotspot associated factors specifically recognize novel target sequences at the site of interchromosomal rearrangements in T-ALL patients with t(8;14)(q24;q11)and (t(1;14)(p32;q11). Int. Immun. 6: 1017-1025, 1994.
[0029919]20507.Cirillo, L. A.; Lin, F. R.; Cuesta, I.; Friedman, D.; Jarnik, M.; Zaret, K. S.: Opening of compacted chromatin by early developmental transcription factors HNF3(FoxA) and GATA-4. Molec. Cell 9: 279-289, 2002.
[0029920]20508.Laitinen, M. P. E.; Anttonen, M.; Ketola, I.; Wilson, D. B.; Ritvos, O.; Butzow, R.; Heikinheimo, M.: Transcription factors GATA-4 and GATA-6 and a GATA family cofactor, FOG-2, are expressed in human ovary and sex cord-derived ovarian tumors. J. Clin. Endocr. Metab. 85: 3476-3483, 2000.
[0029921]20509.Freyd, G.; Kim, S. K.; Horvitz, H. R.: Novel cysteine-rich motif and homeodomain in the product of the Caenorhabditis elegans cell lineage gene lin-11. Nature 344: 876-879, 1990.
[0029922]20510.Mbikay, M.; Tadros, H.; Seidah, N. G.; Simpson, E. M.: Linkage mapping of the gene for the LIM-homeoprotein LIM3 (locus Lhx3) to mouse chromosome 2. Mammalian Genome 6: 818-819, 1995.
[0029923]20511.Sharma, K.; Leonard, A. E.; Lettieri, K.; Pfaff, S. L.: Genetic and epigenetic mechanisms contribute to motor neuron pathfinding. Nature 406: 515-519, 2000.
[0029924]20512.Sharma, K.; Sheng, H. Z.; Lettieri, K.; Li, H.; Karavanov, A.; Potter, S.; Westphal, H.; Pfaff, S. L.: LIM homeodomain factors Lhx3 and Lhx4 assign subtype identities for motor neurons. Cell 95: 817-828, 1998.
[0029925]20513.Sheng, H. Z.; Zhadanov, A. B.; Mosinger, B., Jr.; Fujii, T.; Bertuzzi, S.; Grinberg, A.; Lee, E. J.; Huang, S.-P.; Mahon, K. A.; Westphal, H.: Specification of pituitary cell lineages by the LIM homeobox gene Lhx3. Science 272: 1004-1007, 1996.
[0029926]20514.Sloop, K. W.; Meier, B. C.; Bridwell, J. L.; Parker, G. E.; Schiller, A. M.; Rhodes, S. J.: Differential activation of pituitary hormone genes by human Lhx3 isoforms with distinct DNA binding properties. Molec. Endocr. 13: 2212-2225, 1999.
[0029927]20515.Sloop, K. W.; Showalter, A. D.; Von Kap-Herr, C.; Pettenati, M. J.; Rhodes, S. J.: Analysis of the human LHX3 neuroendocrine transcription factor gene and mapping to the subtelomeric region of chromosome 9. Gene 245: 237-243, 2000.
[0029928]20516.Sloop, K. W.; Walvoord, E. C.; Showalter, A. D.; Pescovitz, O. H.; Rhodes, S. J.: Molecular analysis of LHX3 and PROP-1 in pituitary hormone deficiency patients with posterior pituitary ectopia. J. Clin. Endocr. Metab. 85: 2701-2708, 2000.
[0029929]20517.Brenneman, M. A.; Wagener, B. M.; Miller, C. A.; Allen, C.; Nickoloff, J. A.: XRCC3 controls the fidelity of homologous recombination: roles for XRCC3 in late stages of recombination. Molec. Cell 10: 387-395, 2002.
[0029930]20518.Liu, N.; Lamerdin, J. E.; Tebbs, R. S.; Schild, D.; Tucker, J. D.; Shen, M. R.; Brookman, K. W.; Siciliano, M. J.; Walter, C. A.; Fan, W.; Narayana, L. S.; Zhou, Z.-Q.; Adamson, A. W.; Sorensen, K. J.; Chen, D. J.; Jones, N. J.; Thompson, L. H.: XRCC2 and XRCC3, new human Rad51-family members, promote chromosome stability and protect against DNA cross-links and other damages. Molec. Cell 1: 783-793, 1998.
[0029931]20519.Tebbs, R. S.; Zhao, Y.; Tucker, J. D.; Scheerer, J. B.; Siciliano, M. J.; Hwang, M.; Liu, N.; Legerski, R. J.; Thompson, L. H.: Correction of chromosomal instability and sensitivity to diverse mutagens by a cloned cDNA of the XRCC3 DNA repair gene. Proc. Nat. Acad. Sci. 92: 6354-6358, 1995.
[0029932]20520.Winsey, S. L.; Haldar, N. A.; Marsh, H. P.; Bunce, M.; Marshall, S. E.; Harris, A. L.; Wojnarowska, F.; Welsh, K. I.: A variant within the DNA repair gene XRCC3 is associated with the development of melanoma skin cancer. Cancer Res. 60: 5612-5616, 2000.
[0029933]20521.Hayashida, S.; Yamasaki, K.; Asada, Y.; Soeda, E.; Niikawa, N.; Kishino, T.: Construction of a physical and transcript map flanking the imprinted MEST/PEG1 region at 7q32. Genomics 66: 221-225, 2000.
[0029934]20522.de Wind, N.; Dekker, M.; Claij, N.; Jansen, L.; van Klink, Y.; Radman, M.; Riggins, G.; van der Valk, M.; van't Wout, K.; te Riele, H.: HNPCC-like cancer predisposition in mice through simultaneous loss of Msh3 and Msh6 mismatch-repair protein functions. Nature Genet. 23: 359-362, 1999.
[0029935]20523.Chen, Y. H.; Hansen, L.; Chen, M. X.; Bjorbaek, C.; Vestergaard, H.; Hansen, T.; Cohen, P. T. W.; Pedersen, O.: Sequence of the human glycogen-associated regulatory subunit of type 1 protein phosphatase and analysis of its coding region and mRNA level in muscle from patients with NIDDM. Diabetes 43: 1234-1241, 1994.
[0029936]20524.Braun-Dullaeus, R. C.; Mann, M. J.; Ziegler, A.; von der Leyen, H. E.; Dzau, V. J.: A novel role for the cyclin-dependent kinase inhibitor p27(Kip1) in angiotensin II-stimulated vascular smooth muscle cell hypertrophy. J. Clin. Invest. 104: 815-823, 1999.
[0029937]20525.Carrano, A. C.; Eytan, E.; Hershko, A.; Pagano, M.: SKP2 is required for ubiquitinmediated degradation of the CDK inhibitor p27. Nature Cell Biol. 1: 193-199, 1999.
[0029938]20526.Di Cristofano, A.; De Acetis, M.; Koff, A.; Cordon-Cardo, C.; Pandolfi, P. P.: Pten and p27(KIP1) cooperate in prostate cancer tumor suppression in the mouse. Nature Genet. 27: 222-224, 2001.
[0029939]20527.Fero, M. L.; Rivkin, M.; Tasch, M.; Porter, P.; Carow, C. E.; Firpo, E.; Polyak, K.; Tsai, L.-H.; Broudy, V.; Perlmutter, R. M.; Kaushansky, K.; Roberts, J. M.: A syndrome of multiorgan hyperplasia with features of gigantism, tumorigenesis, and female sterility in p27(Kip1)-deficient mice. Cell 85: 733-744, 1996.
[0029940]20528.Gowen, M.; Lazner, F.; Dodds, R.; Kapadia, R.; Feild, J.; Tavaria, M.; Bertoncello, I.; Drake, F.; Zavarselk, S.; Tellis, I.; Hertzog, P.; Debouck, C.; Kola, I.: Cathepsin K knockout mice develop osteopetrosis due to a deficit in matrix degradation but not demineralization. J. Bone Miner. Res. 14: 1654-1663, 1999.
[0029941]20529.Buyse, I. M.; Shao, G.; Huang, S.: The retinoblastoma protein binds to RIZ, a zincfinger protein that shares an epitope with the adenovirus E1A protein. Proc. Nat. Acad. Sci. 92: 4467-4471, 1995.
[0029942]20530.Buyse, I. M.; Takahashi, E.; Huang, S.: Physical mapping of the retinoblastoma interacting zinc finger gene RIZ to D1S228 on chromosome 1p36. Genomics 34: 119-121, 1996.
[0029943]20531.Chadwick, R. B.; Jiang, G.-L.; Bennington, G. A.; Yuan, B.; Johnson, C. K.; Stevens, M. W.; Niemann, T. H.; Peltomaki, P.; Huang, S.; de la Chapelle, A.: Candidate tumor suppressor RIZ is frequently involved in colorectal carcinogenesis. Proc. Nat. Acad. Sci. 97: 2662-2667, 2000.
[0029944]20532.Mock, B. A.; Coleman, M. P.; Huang, S.: Riz maps to distal chromosome 4 near genes involved in tumorigenesis and nerve degeneration. Mammalian Genome 7: 637 only, 1996.
[0029945]20533.Poetsch, M.; Dittberner, T.; Woenckhaus, C.: Frameshift mutations of RIZ, but no point mutations in RIZ1 exons in malignant melanomas with deletions in 1p36. Oncogene 21: 3038-3042, 2002.
[0029946]20534.Malek, N. P.; Sundberg, H.; McGrew, S.; Nakayama, K.; Kyriakidis, T. R.; Roberts, J. M.: A mouse knock-in model exposes sequential proteolytic pathways that regulate p27(Kip1) in G1 and S phase. Nature 413: 323-327, 2001.
[0029947]20535.Martin, E.; Cacheux, V.; Cave, H.; Lapierre, J. M.; Le\Paslier, D.; Grandchamp, B.: Localization of the CDKN4/p27(Kip1) gene to human chromosome 12p12.3. Hum. Genet. 96: 668-670, 1995.
[0029948]20536.Mitsuhashi, T.; Aoki, Y.; Eksioglu, Y. Z.; Takahashi, T.; Bhide, P. G.; Reeves, S. A.; Caviness, V. S., Jr.: Overexpression of p27(Kip1) lengthens the G1 phase in a mouse model that targets inducible gene expression to central nervous system progenitor cells. Proc. Nat. Acad. Sci. 98: 6435-6440, 2001.
[0029949]20537.Polyak, K.; Lee, M.-H.; Erdjument-Bromage, H.; Koff, A.; Roberts, J. M.; Tempst, P.; Massague, J.: Cloning of p27(Kip1), a cyclin-dependent kinase inhibitor and a potential mediator of extracellular antimitogenic signals. Cell 78: 59-66, 1994.
[0029950]20538.Saito, T.; Seki, N.; Hattori, A.; Hayashi, A.; Abe, M.; Araki, R.; Fujimori, A.; Fukumura, R.; Kozuma, S.; Matsuda, Y.: Structure, expression profile, and chromosomal location of a mouse gene homologous to human DNA-PK(cs) interacting protein (KIP) gene. Mammalian Genome 10: 315-317, 1999.
[0029951]20539.Sherr, C. J.; Roberts, J. M.: Inhibitors of mammalian G1 cyclin-dependent kinases. Genes Dev. 9: 1149-1163, 1995.
[0029952]20540.Toyoshima, H.; Hunter, T.: p27, a novel inhibitor of G1 cyclin-Cdk protein kinase activity, is related to p21. Cell 78: 67-74, 1994.
[0029953]20541.Khakh, B. S.; Zhou, X.; Sydes, J.; Galligan, J. J.; Lester, H. A.: State-dependent crossinhibition between transmitter-gated cation channels. Nature 406: 405-410, 2000.
[0029954]20542.Chen, J. D.; Evans, R. M.: A transcriptional co-repressor that interacts with nuclear hormone receptors. Nature 377: 454-457, 1995.
[0029955]20543.Fischle, W.; Dequiedt, F.; Hendzel, M. J.; Guenther, M. G.; Lazar, M. A.; Voelter, W.; Verdin, E.: Enzymatic activity associated with class II HDACs is dependent on a multiprotein complex containing HDAC3 and SMRT/N-CoR. Molec. Cell 9: 45-57, 2002.
[0029956]20544.Horlein, A. J.; Naar, A. M.; Heinzel, T.; Torchia, J.; Gloss, B.; Kurokawa, R.; Ryan, A.; Kamel, Y.; Soderstrom, M.; Glass, C. K.; Rosenfeld, M. G.: Ligand-independent repression by the thyroid hormone receptor mediated by a nuclear receptor co-repressor. Nature 377: 397-403, 1995.
[0029957]20545.Hu, X.; Lazar, M. A.: The CoRNR motif controls the recruitment of corepressors by nuclear hormone receptors. Nature 402: 93-96, 1999.
[0029958]20546.Jiang, Q.; Galiegue-Zouitina, S.; Roumier, C.; Hildebrand, M. P.; Thomas, S.; Coignet, L. J.: Genomic organization and refined mapping of the human nuclear corepressor 2 (NCOR2)/ silencing mediator of retinoid and thyroid hormone receptor (SMRT) gene on chromosome 12q24.3. Cytogenet. Cell Genet. 92: 217-220, 2001.
[0029959]20547.Ordentlich, P.; Downes, M.; Xie, W.; Genin, A.; Spinner, N. B.; Evans, R. M.: Unique forms of human and mouse nuclear receptor corepressor SMRT. Proc. Nat. Acad. Sci. 96: 2639-2644, 1999.
[0029960]20548.Hansen, L.; Hansen, T.; Vestergaard, H.; Bjorbaek, C.; Echwald, S. M.; Clausen, J. O.; Chen, Y. H.; Chen, M. X.; Cohen, P. T. W.; Pedersen, O.: A widespread amino acid polymorphism at codon 905 of the glycogen-associated regulatory subunit of protein phosphatase-1 is associated with insulin resistance and hypersecretion of insulin. Hum. Molec. Genet. 4: 1313-1320, 1995.
[0029961]20549.Hegele, R. A.; Harris, S. B.; Zinman, B.; Wang, J.; Cao, H.; Hanley, A. J. G.; Tsui, L.-C.; Scherer, S. W.: Variation in the AU(AT)-rich element within the 3-prime-untranslated region of PPP1R3 is associated with variation in plasma glucose in aboriginal Canadians. J. Clin. Endocr. Metab. 83: 3980-3983, 1998.
[0029962]20550.Savage, D. B.; Agostini, M.; Barroso, I.; Gurnell, M.; Luan, J.; Meirhaeghe, A.; Harding, A.-H.; Ihrke, G.; Rajanayagam, O.; Soos, M. A.; George, S.; Berger, D.; and 9 others: Digenic inheritance of severe insulin resistance in a human pedigree. Nature Genet. 31: 379-384, 2002.
[0029963]20551.Tang, P. M.; Bondor, J. A.; Swiderek, K. M.; DePaoli-Roach, A. A.: Molecular cloning and expression of the regulatory (RG1) subunit of the glycogen-associated protein phosphatase. J. Biol. Chem. 266: 15782-15789, 1991.
[0029964]20552.International Cystinuria Consortium: Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria. Hum. Molec. Genet. 10: 305-316, 2001.
[0029965]20553.International Cystinuria Consortium: Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (b(0,+)AT) of rBAT. Nature Genet. 23: 52-57, 1999.
[0029966]20554.Garcia, J. G.; Lazar, V.; Gilbert-McClain, L. I.; Gallagher, P. J.; Verin, A. D.: Myosin light chain kinase in endothelium: molecular cloning and regulation. Am. J. Resp. Cell Molec. Biol. 16: 489-494, 1997.
[0029967]20555.Giorgi, D.; Brand-Arpon, V.; Rouquier, S.: The functional myosin light chain kinase (MYLK) gene localizes with marker D3S3552 on human chromosome 3q21 in a greater than 5-Mb yeast artificial chromosome region and is not linked to olfactory receptor genes. Cytogenet. Cell Genet. 92: 85-88, 2001.
[0029968]20556.Lazar, V.; Garcia, J. G. N.: A single human myosin light chain kinase gene (MLCK; MYLK) transcribes multiple nonmuscle isoforms. Genomics 57: 256-267, 1999.
[0029969]20557.Potier, M.-C.; Chelot, E.; Pekarsky, Y.; Gardiner, K.; Rossier, J.; Turnell, W. G.: The human myosin light chain kinase (MLCK) from hippocampus: cloning, sequencing, expression, and localization to 3cen-q21. Genomics 29: 562-570, 1995.
[0029970]20558.Walker, L. A.; MacDonald, J. A.; Liu, X.; Nakamoto, R. K.; Haystead, T. A. J.; Somlyo, A. V.; Somlyo, A. P.: Site-specific phosphorylation and point mutations of telokin modulate its Ca(2+)-desensitizing effect in smooth muscle. J. Biol. Chem. 276: 24519-24524, 2001.
[0029971]20559.Watterson, D. M.; Schavocky, J. P.; Guo, L.; Weiss, C.; Chlenski, A.; Shirinsky, V. P.; Van Eldik, L. J.; Haiech, J.: Analysis of the kinase-related protein gene found at human chromosome 3q21 in a multi-gene cluster: organization, expression, alternative splicing, and polymorphic marker. J. Cell. Biochem. 75: 481-491, 1999.
[0029972]20560.Druck, T.; Gu, Y.; Prabhala. G.; Cannizzaro, L. A.; Park, S.-H.; Huebner, K.; Keen, J. H.: Chromosome localization of human genes for clathrin adaptor polypeptides AP2-beta and AP50 and the clathrin-binding protein, VCP. Genomics 30: 94-97, 1995.
[0029973]20561.Liu, Q.; Feng, Y.; Forgac, M.: Activity and in vitro reassembly of the coated vesicle (H+)-ATPase requires the 50-kDa subunit of the clathrin assembly complex AP-2. J. Biol. Chem. 269: 31592-31597, 1994.
[0029974]20562.Thurieau, C.; Brosius, J.; Burne, C.; Jolles, P.; Keen, J. H.; Mattaliano, R. J.; Chow, E. P.; Ramachandran, K. L.; Kirchhausen, T.: Molecular cloning and complete amino acid sequence of AP50, an assembly protein associated with clathrin-coated vesicles. DNA 7: 663-669, 1988.
[0029975]20563.Ponnambalam, S.; Robinson, M. S.; Jackson, A. P.; Peiperl, L.; Parham, P.: Conservation and diversity in families of coated vesicle adaptins. J. Biol. Chem. 265: 4814-4820, 1990.
[0029976]20564.Waelter, S.; Scherzinger, E.; Hasenbank, R.; Nordhoff, E.; Lurz, R.; Goehler, H.; Gauss, C.; Sathasivam, K.; Bates, G. P.; Lehrach, H.; Wanker, E. E.: The huntingtin interacting protein HIP1 is a clathrin and alpha-adaptin-binding protein involved in receptor-mediated endocytosis. Hum. Molec. Genet. 10: 1807-1817, 2001.
[0029977]20565.Kaneko-Ishino, T.; Kuroiwa, Y.; Miyoshi, N.; Kohda, T.; Suzuki, R.; Yokoyama, M.; Viville, S.; Barton, S. C.; Ishino, F.; Surani, M. A.: Peg1/Mest imprinted gene on chromosome 6 identified by cDNA subtraction hybridization. Nature Genet. 11: 52-59, 1995.
[0029978]20566.Kobayashi, S.; Kohda, T.; Miyoshi, N.; Kuroiwa, Y.; Aisaka, K.; Tsutsumi, O.; Kaneko-Ishino, T.; Ishino, F.: Human PEG1/MEST, an imprinted gene on chromosome 7. Hum. Molec. Genet. 6: 781-786, 1997.
[0029979]20567.Kosaki, K.; Kosaki, R.; Craigen, W. J.; Matsuo, N.: Isoform-specific imprinting of the human PEG1/MEST gene. (Letter) Am. J. Hum. Genet. 66: 309-312, 2000.
[0029980]20568.Kotzot, D.; Schmitt, S.; Bernasconi, F.; Robinson, W. P.; Lurie, I. W.; Ilyina, H.; Mehes, K.; Hamel, B. C. J.; Otten, B. J.; Hergersberg, M.; Werder, E.; Shoenle, E.; Schinzel, A.: Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation. Hum. Molec. Genet. 4: 583-587, 1995.
[0029981]20569.Lefebvre, L.; Viville, S.; Barton, S. C.; Ishino, F.; Keverne, E. B.; Surani, M. A.: Abnormal maternal behaviour and growth retardation associated with loss of the imprinted gene Mest. Nature Genet. 20: 163-169, 1998.
[0029982]20570.Lefebvre, L.; Viville, S.; Barton, S. C.; Ishino, F.; Surani, M. A.: Genomic structure and parent-of-origin-specific methylation of Peg1. Hum. Molec. Genet. 6: 1907-1915, 1997.
[0029983]20571.Ayala-Madrigal, M. L.; Doerr, S.; Ramirez-Duenas, M. L.; Hansmann, I.: Assignment of karyopherin alpha 1 (KPNA1) to human chromosome band 3q21 by in situ hybridization. Cytogenet. Cell Genet. 90: 58-59, 2000.
[0029984]20572.Conti, E.; Uy, M.; Leighton, L.; Blobel, G.; Kuriyan, J.: Crystallographic analysis of the recognition of a nuclear localization signal by the nuclear import factor karyopherin alpha. Cell 94: 193-204, 1998.
[0029985]20573.Cortes, P.; Ye, Z.-S.; Baltimore, D.: RAG-1 interacts with the repeated amino acid motif of the human homologue of the yeast protein SRP1. Proc. Nat. Acad. Sci. 91: 7633-7637, 1994.
[0029986]20574.Aplan, P. D.; Johnson, B. E.; Russell, E.; Chervinsky, D. S.; Kirsch, I. R.: Cloning and characterization of TCTA, a gene located at the site of a t(1;3) translocation. Cancer Res. 55: 1917-1921, 1995.
[0029987]20575.Ghetti, A.; Pinol-Roma, S.; Michael, W. M.; Morandi, C.; Dreyfuss, G.: HNRNP I, the polypyrimidine tract-binding protein: distinct nuclear localization and association with hnRNAs. Nucleic Acids Res. 20: 3671-3678, 1992.
[0029988]20576.Raimondi, E.; Romanelli, M. G.; Moralli, D.; Gamberi, C.; Russo, M. P.; Morandi, C.: Assignment of the human gene encoding heterogeneous nuclear RNA ribonucleoprotein I (PTB) to chromosome 14q23-q24.1. Genomics 27: 553-555, 1995.
[0029989]20577.Romanelli, M. G.; Lorenzi, P.; Morandi, C.: Organization of the human gene encoding heterogeneous nuclear ribonucleoprotein type I (hnRNP I) and characterization of hnRNP I related pseudogene. Gene 255: 267-272, 2000.
[0029990]20578.Hirota, H.; Chen, J.; Betz, U. A. K.; Rajewsky, K.; Gu, Y.; Ross, J., Jr.; Muller, W.; Chien, K. R.: Loss of a gp130 cardiac muscle cell survival pathway is a critical event in the onset of heart failure during biochemical stress. Cell 97: 189-198, 1999.
[0029991]20579.Kidd, V. J.; Nesbitt, J. E.; Fuller, G. M.: Chromosomal localization of the IL-6 receptor signal transducing subunit, gp130 (IL6ST). Somat. Cell Molec. Genet. 18: 477-483, 1992.
[0029992]20580.Kishimoto, T.; Taga, T.; Akira, S.: Cytokine signal transduction. Cell 76: 253-262, 1994.
[0029993]20581.Rodriguez, C.; Grosgeorge, J.; Nguyen, V. C.; Gaudray, P.; Theillet, C.: Human gp130 transducer chain gene (IL6ST) is localized to chromosome band 5q11 and possesses a pseudogene on chromosome band 17p11. Cytogenet. Cell Genet. 70: 64-67, 1995.
[0029994]20582.Haagerup, A.; Hertz, J. M.; Christensen, M. F.; Binderup, H.; Kruse, T. A.: Cathepsin K gene mutations and 1q21 haplotypes in patients with pycnodysostosis in an outbred population. Europ. J. Hum. Genet. 8: 431-436, 2000.
[0029995]20583.Ho, N.; Punturieri, A.; Wilkin, D.; Szabo, J.; Johnson, M.; Whaley, J.; Davis, J.; Clark, A.; Weiss, S.; Francomano, C.: Mutations of CTSK result in pycnodysostosis via a reduction in cathepsin K protein. J. Bone Miner. Res. 14: 1649-1653, 1999.
[0029996]20584.Inaoka, T.; Bilbe, G.; Ishibashi, O.; Tezuka, K.; Kumegawa, M.; Kokubo, T.: Molecular cloning of human cDNA for cathepsin K: novel cysteine proteinase predominantly expressed in bone. Biochem. Biophys. Res. Commun. 206: 89-96, 1995.
[0029997]20585.Johnson, M. R.; Polymeropoulos, M. H.; Vos, H. L.; Ortiz de Luna, R. I.; Francomano, C. A.: A nonsense mutation in the cathepsin K gene observed in a family with pycnodysostosis. Genome Res. 6: 1050-1055, 1996.
[0029998]20586.Hoogenraad, C. C.; Koekkoek, B.; Akhmanova, A.; Krugers, H.; Dortland, B.; Miedema, M.; van Alphen, A.; Kistler, W. M.; Jaegle, M.; Koutsourakis, M.; Van Camp, N.; Verhoye, M.; van der Linden, A.; Kaverina, I.; Grosveld, F.; De Zeeuw, C. I.; Galjart, N.: Targeted mutation of Cyln2 in the Williams syndrome critical region links CLIP-115 haploinsufficiency to neurodevelopmental abnormalities in mice. Nature Genet. 32: 116-127, 2002. Note: Erratum: Nature Genet. 32: 331 only, 2002.
[0029999]20587.Bannerman, R. M.; Edwards, J. A.; Kreimer-Birnbaum, M.; McFarland, E.; Russell, E. S.: Hereditary microcytic anaemia in the mouse; studies in iron distribution and metabolism. Brit. J. Haemat. 23: 235-245, 1972.
[0030000]20588.Silverstein, A. M.: Essential hypocomplementemia: report of a case. Blood 16: 1338-1341, 1960.
[0030001]20589.Hintner, H.; Wolff, K.: Generalized atrophic benign epidermolysis bullosa. Arch. Derm. 118: 375-384, 1982.
[0030002]20590.McGrath, J. A.; Gatalica, B.; Christiano, A. M.; Li, K.; Owaribe, K.; McMillan, J. R.; Eady, R. A. J.; Uitto, J.: Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa. Nature Genet. 11: 83-86, 1995.
[0030003]20591.Vincent, J. B.; Herbrick, J.-A.; Gurling, H. M. D.; Bolton, P. F.; Roberts, W.; Scherer, S. W.: Identification of a novel gene on chromosome 7q31 that is interrupted by a translocation breakpoint in an autistic individual. Am. J. Hum. Genet. 67: 510-514, 2000.
[0030004]20592.Vourc'h, P.; Bienvenu, T.; Beldjord, C.; Chelly, J.; Barthelemy, C.; Muh, J. P.; Andres, C.: No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients. Europ. J. Hum. Genet. 9: 556-558, 2001.
[0030005]20593.Jaspers, M.; Zhang, Z.; Marynen, P.; Vekemans, S.; Aly, M. S.; Cuppens, H.; Hillicker, C.; Cassiman, J.-J.: Localization of the genes encoding the alpha-2 and alpha-4 subunits of the human VLA-receptors to chromosome 5q23-31 and 2q31-32 respectively. (Abstract) Cytogenet. Cell Genet. 58: 1870 only, 1991.
[0030006]20594.Kaplan, C.; Morel-Kopp, M. C.; Kroll, H.; Kiefel, V.; Schlegel, N.; Chesnel, N.; Mueller-Eckhardt, C.: HPA-5b (Br-a) neonatal alloimmune thrombocytopenia: clinical and immunological analysis of 39 cases. Brit. J. Haemat. 78: 425-429, 1991.
[0030007]20595.Kiefel, V.; Santoso, S.; Katzmann, B.; Mueller-Eckhardt, C.: A new platelet-specific alloantigen Br(a): report of 4 cases with neonatal alloimmune thrombocytopenia. Vox Sang. 54: 101-106, 1988.
[0030008]20596.Kiefel, V.; Shechter, Y.; Atias, D.; Kroll, H.; Santoso, S.; Mueller-Eckhardt, C.: Neonatal alloimmune thrombocytopenia due to anti-Br(b) (HPA-5a): report of three cases in two families. Vox Sang. 60: 244-245, 1991.
[0030009]20597.Kritzik, M.; Savage, B.; Nugent, D. J.; Santoso, S.; Ruggeri, Z. M.; Kunicki, T. J.: Nucleotide polymorphisms in the alpha-2 gene define multiple alleles that are associated with differences in platelet alpha-2/beta-1 density. Blood 92: 2382-2388, 1998.
[0030010]20598.Kunicki, T. J.; Kritzik, M.; Annis, D. S.; Nugent, D. J.: Hereditary variation in platelet integrin alpha-2-beta-1 density is associated with two silent polymorphisms in the alpha-2 gene coding sequence. Blood 89: 1939-1943, 1997.
[0030011]20599.Mueller-Eckhardt, C.; Kiefel, V.; Grubert, A.; Kroll, H.; Weisheit, M.; Schmidt, S.; Mueller-Eckhardt, G.; Santoso, S.: 348 cases of suspected neonatal alloimmune thrombocytopenia. Lancet I: 363-366, 1989.
[0030012]20600.Nieuwenhuis, H. K.; Akkerman, J. W. N.; Houdijk, W. P.; Sixma, J. J.: Human blood platelets showing no response to collagen fail to express surface glycoprotein Ia. Nature 318: 470-472, 1985.
[0030013]20601.Santoso, S.; Amrhein, J.; Hofmann, H. A.; Sachs, U. J. H.; Walka, M. M.; Kroll, H.; Kiefel, V.: A point mutation thr799met on the alpha-2 integrin leads to the formation of new human platelet alloantigen Sit(a) and affects collagen-induced aggregation. Blood 94: 4103-4111, 1999.
[0030014]20602.Santoso, S.; Kalb, R.; Walka, M.; Kiefel, V.; Mueller-Eckhardt, C.; Newman, P. J.: The human platelet alloantigens Br(a) and Br(b) are associated with a single amino acid polymorphism on glycoprotein Ia (integrin subunit alpha-2). J. Clin. Invest. 92: 2427-2432, 1993.
[0030015]20603.Santoso, S.; Kunicki, T. J.; Kroll, H.; Haberbosch, W.; Gardemann, A.: Association of the platelet glycoprotein Ia C807T gene polymorphism with nonfatal myocardial infarction in younger patients. Blood 93: 2449-2453, 1999.
[0030016]20604.Takada, Y.; Hemler, M. E.: The primary structure of the VLA-2/collagen receptor alpha-2 subunit (platelet GPIa): homology to other integrins and the presence of a possible collagenbinding domain. J. Cell Biol. 109: 397-407, 1989.
[0030017]20605.von Beckerath, N.; Koch, W.; Mehilli, J.; Bottiger, C.; Schomig, A.; Kastrati, A.: Glycoprotein Ia gene C807T polymorphism and risk for major adverse cardiac events within the first 30 days after coronary artery stenting. Blood 95: 3297-3301, 2000.
[0030018]20606.Fernandez-Ruiz, E.; Pardo-Manuel de Villena, F.; Rubio, M. A.; Corbi, A. L.; Rodriguez de Cordoba, S.; Sanchez-Madrid, F.: Mapping of the human VLA-alpha-4 gene to chromosome 2q31-q32. Europ. J. Immun. 22: 587-590, 1992.
[0030019]20607.Rosemblatt, M.; Vuillet-Gaugler, M. H.; Leroy, C.; Coulombel, L. : Coexpression of two fibronectin receptors, VLA-4 and VLA-5, by immature human erythroblastic precursor cells. J. Clin. Invest. 87: 6-11, 1991.
[0030020]20608.Zhang, Z.; Vekemans, S.; Aly, M. S.; Jaspers, M.; Marynen, P.; Cassiman, J.-J.: The gene for the alpha-4 subunit of the VLA-4 integrin maps to chromosome 2q31-32. Blood 78: 2396-2399, 1991.
[0030021]20609.Hiesberger, T.; Trommsdorff, M.; Howell, B. W.; Goffinet, A.; Mumby, M. C.; Cooper, J. A.; Herz, J.: Direct binding of reelin to VLDL receptor and apoE receptor 2 induces tyrosine phosphorylation of disabled-1 and modulates tau phosphorylation. Neuron 24: 481-489, 1999.
[0030022]20610.Trommsdorff, M.; Gotthardt, M.; Hiesberger, T.; Shelton, J.; Stockinger, W.; Nimpf, J.; Hammer, R. E.; Richardson, J. A.; Herz, J.: Reeler/Disabled-like disruption of neuronal migration in knockout mice lacking the VLDL receptor and ApoE receptor 2. Cell 97: 689-701, 1999.
[0030023]20611.Archidiacono, N.; Grimaldi, G.; Rocchi, M.; Romeo, G.: Mapping of three sequenced clones coding for Zn(++) finger proteins. Cytogenet. Cell Genet. 51: 952 only, 1989.
[0030024]20612.Miller, J.; McLachlan, A. D.; Klug, A.: Repetitive zinc-binding domains in the protein transcription factor IIIA from Xenopus oocytes. EMBO J. 4: 1609-1614, 1985.
[0030025]20613.Rocchi, M.; Gentile, E.; Rosati, M.; Grimaldi, G.: The human KRAB/FPB containing zinc finger gene ZNF2 maps to chromosome 2q11.2. Cytogenet. Cell Genet. 86: 305-306, 1999.
[0030026]20614.Lloyd, S. L.; Sargent, C. A.; Chalmers, J.; Lim, E.; Habeebu, S. S. M.; Affara, N. A.: An X-linked zinc finger gene mapping to Xq21.1-q21.3 closely related to ZFX and ZFY: possible origins from a common ancestral gene. Nucleic Acids Res. 19: 4835-4841, 1991.
[0030027]20615.Rousseau-Merck, M. F.; Tunnacliffe, A.; Berger, R.; Ponder, B. A. J.; Thiesen, H. J.: A cluster of expressed zinc finger protein genes in the pericentromeric region of human chromosome 10. Genomics 13: 845-848, 1992.
[0030028]20616.Huebner, K.; Druck, T.; Croce, C. M.; Thiesen, H. J.: Twenty-seven nonoverlapping zinc finger cDNAs from human T cells map to nine different chromosomes with apparent clustering. Am. J. Hum. Genet. 48: 726-740, 1991.
[0030029]20617.Rousseau-Merck, M.-F.; Hillion, J.; Jonveaux, P.; Berger, R.; Thiesen, H. J.: Chromosomal localization of two human zinc finger protein genes (Kox), to chromosome 17p13p12. (Abstract) Cytogenet. Cell Genet. 58: 2009, 1991.
[0030030]20618.Rousseau-Merck, M.-F.; Hillion, J.; Jonveaux, P.; Couillin, P.; Seite, P.; Thiesen, H.-J.; Berger, R.: Chromosomal localization of 9 KOX zinc finger genes: physical linkages suggest clustering of KOX genes on chromosomes 12, 16, and 19. Hum. Genet. 92: 583-587, 1993.
[0030031]20619.Bray, P.; Lichter, P.; Thiesen, H.-J.; Ward, D. C.; Dawid, I. B. : Characterization and mapping of human genes encoding zinc finger proteins. Proc. Nat. Acad. Sci. 88: 9563-9567, 1991.
[0030032]20620.Naylor, S. L.; Klebe, R. J.; Shows, T. B.: Argininosuccinic aciduria: assignment of the argininosuccinate lyase gene to the pter-q22 region of human chromosome 7 by bioautography. Proc. Nat. Acad. Sci. 75: 6159-6162, 1978.
[0030033]20621.Pastural, E.; Ersoy, F.; Yalman, N.; Wulffraat, N.; Grillo, E.; Ozkinay, F.; Tezcan, I.; Gedikoglu, G.; Philippe, N.; Fischer, A.; de Saint Basile, G.: Two genes are responsible for Griscelli syndrome at the same 15q21 locus. Genomics 63: 299-306, 2000.
[0030034]20622.Lehmann, O. J.; El-ashry, M. F.; Ebenezer, N. D.; Ocaka, L.; Francis, P. J.; Wilkie, S. E.; Patel, R. J.; Ficker, L.; Jordan, T.; Khaw, P. T.; Bhattacharya, S. S.: A novel keratocan mutation causing autosomal recessive cornea plana. Invest. Ophthal. Vis. Sci. 42: 3118-3122, 2001.
[0030035]20623.Hayasaka, K.; Tada, K.; Kikuchi, G.; Winter, S.; Nyhan, W. L.: Nonketotic hyperglycinemia: two patients with primary defects of P-protein and T-protein, respectively, in the glycine cleavage system. Pediat. Res. 17: 967-970, 1983.
[0030036]20624.Kure, S.; Mandel, H.; Rolland, M.-O.; Sakata, Y.; Shinka, T.; Drugan, A.; Boneh, A.; Tada, K.; Matsubara, Y.; Narisawa, K.: A missense mutation (his42arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia. Hum. Genet. 102: 430-434, 1998.
[0030037]20625.Kure, S.; Shinka, T.; Sakata, Y.; Osamu, N.; Takayanagi, M.; Tada, K.; Matsubara, Y.; Narisawa, K.: A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia. J. Hum. Genet. 43: 135-137, 1998.
[0030038]20626.Nanao, K.; Okamura-Ikeda, K.; Motokawa, Y.; Danks, D. M.; Baumgartner, E. R.; Takada, G.; Hayasaka, K.: Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia. Hum. Genet. 93: 655-658, 1994.
[0030039]20627.Nanao, K.; Takada, G.; Takahashi, E.; Seki, N.; Komatsu, Y.; Okamura-Ikeda, K.; Motokawa, Y.; Hayasaka, K.: Structure and chromosomal localization of the aminomethyltransferase gene (AMT). Genomics 19: 27-30, 1994.
[0030040]20628.Toone, J. R.; Applegarth, D. A.; Coulter-Mackie, M. B.; James, E. R.: Biochemical and molecular investigations of patients with nonketotic hyperglycemia. Molec. Genet. Metab. 70: 116-121, 2000.
[0030041]20629.Toone, J. R.; Applegarth, D. A.; Coulter-Mackie, M. B.; James, E. R.: Identification of the first reported splice site mutation (IVS7-1G-A) in the aminomethyltransferase (T-protein) gene (AMT) of the glycine cleavage complex in 3 unrelated families with nonketotic hyperglycinemia. (Abstract) Hum. Mutat. 17: 76 only, 2000.
[0030042]20630.Fujiwara, K.; Okamura-Ikeda, K.; Hayasaka, K.; Motokawa, Y.: The primary structure of human H-protein of the glycine cleavage system deduced by cDNA cloning. Biochem. Biophys. Res. Commun. 176: 711-716, 1991.
[0030043]20631.Hiraga, K.; Kochi, H.; Hayasaka, K.; Kikuchi, G.; Nyhan, W. L. : Defective glycine cleavage system in non-ketotic hyperglycinemia: occurrence of a less active glycine decarboxylase and an abnormal aminomethyl carrier protein. J. Clin. Invest. 68: 525-534, 1981.
[0030044]20632.Hiraga, K.; Kure, S.; Yamamoto, M.; Ishiguro, Y.; Suzuki, T.: Cloning of cDNA encoding human H-protein, a constituent of the glycine cleavage system. Biochem. Biophys. Res. Commun. 151: 758-762, 1988.
[0030045]20633.Koyata, H.; Hiraga, K.: The glycine cleavage system: structure of a cDNA encoding human H-protein, and partial characterization of its gene in patients with hyperglycinemias. Am. J. Hum. Genet. 48: 351-361, 1991.
[0030046]20634.O'Brien, W. E.; McInnes, R.; Kalumuck, K.; Adcock, M.: Cloning and sequence analysis of cDNA for human argininosuccinate lyase. Proc. Nat. Acad. Sci. 83: 7211-7215, 1986.
[0030047]20635.Piatigorsky, J.; O'Brien, W. E.; Norman, B. L.; Kalumuck, K.; Wistow, G. J.; Borras, T.; Nickerson, J. M.; Wawrousek, E. F.: Gene sharing by delta-crystallin and argininosuccinate lyase. Proc. Nat. Acad. Sci. 85: 3479-3483, 1988.
[0030048]20636.Piatigorsky, J.; Wistow, G.: The recruitment of crystallins: new functions precede gene duplication. Science 252: 1078-1079, 1991.
[0030049]20637.Pijpers, L.; Kleijer, W. J.; Reuss, A.; Jahoda, M. G. J.; Los, F. J.; Sachs, E. S.; Wladimiroff, J. W.: Transabdominal chorionic villus sampling in a multiple pregnancy at risk of argininosuccinic aciduria: a case report. Am. J. Med. Genet. 36: 449-450, 1990.
[0030050]20638.Qureshi, I. A.; Letarte, J.; Ouellet, R.; Lemieux, B.: Enzymologic and metabolic studies in two families affected by argininosuccinic aciduria. Pediat. Res. 12: 256-262, 1978.
[0030051]20639.Shih, V. E.; Efron, M. L.: Urea cycle disorders.In: Stanbury, J. B.; Wyngaarden, J. B.; Fredrickson, D. S.: The Metabolic Basis of Inherited Disease. New York: McGraw-Hill (pub.) (3rd ed.) : 1972. Pp. 370-392.
[0030052]20640.Shih, V. E.; Littlefield, J. W.; Moser, H. W.: Argininosuccinase deficiency in fibroblasts cultured from patients with argininosuccinic aciduria. Biochem. Genet. 3: 81-83, 1969.
[0030053]20641.Simard, L.; O'Brien, W. E.; McInnes, R. R.: Argininosuccinate lyase deficiency: evidence for heterogeneous structural gene mutations by immunoblotting. Am. J. Hum. Genet. 39: 38-51, 1986.
[0030054]20642.Todd, S.; McGill, J. R.; McCombs, J. L.; Moore, C. M.; Weider, I.; Naylor, S. L.: cDNA sequence, interspecies comparison and gene mapping analysis of argininosuccinate lyase. Genomics 4: 53-59, 1989.
[0030055]20643.Van der Heiden, C.; Gerards, L. J.; van Biervliet, J. P. G. M.; Desplanque, J.; DeBree, P. K.; Van Sprang, F. J.; Wadman, S. K.: Lethal neonatal argininosuccinate lyase deficiency in four children from one sibship. Helv. Paediat. Acta 31: 407-417, 1976.
[0030056]20644.Walker, D. C.; McCloskey, D. A.; Simard, L. R.; McInnes, R. R. : Molecular analysis of human argininosuccinate lyase (ASAL): mutant characterization and alternate splicing of the active site. (Abstract) Am. J. Hum. Genet. 45 (suppl.): A227 only, 1989.
[0030057]20645.Walker, D. C.; McCloskey, D. A.; Simard, L. R.; McInnes, R. R. : Identification of a mutation frequently involved in interallelic complementation at the human argininosuccinic acid lyase locus. (Abstract) Am. J. Hum. Genet. 47 (suppl.): A169 only, 1990.
[0030058]20646.Walker, D. C.; McCloskey, D. A.; Simard, L. R.; McInnes, R. R. : Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region. Proc. Nat. Acad. Sci. 87: 9625-9629, 1990.
[0030059]20647.Widhalm, K.; Koch, S.; Scheibenreiter, S.; Knoll, E.; Colombo, J. P.; Bachmann, C.; Thalhammer, O.: Long-term follow-up of 12 patients with the late-onset variant of argininosuccinic acid lyase deficiency: no impairment of intellectual and psychomotor development during therapy. Pediatrics 89: 1182-1184, 1992.
[0030060]20648.Aloysia, M.; Gelb, A. G.; Fudenberg, H.; Hamper, J.; Tippett, P.; Race, R. R.: The expected 'Bombay' group O(H-A1) and O(H-A2). Transfusion 1: 212-217, 1961.
[0030061]20649.Bhende, Y. M.; Deshpande, C. K.; Bhatia, H. M.; Sanger, R.; Race, R. R.; Morgan, W. T. J.; Watkins, W. M.: A 'new' blood group character related to the ABO system. Lancet I: 903-904, 1952.
[0030062]20650.Gerard, G.; Vitrac, D.; Le Pendu, J.; Muller, A.; Oriol, R.: H-deficient blood groups (Bombay) of Reunion Island. Am. J. Hum. Genet. 34: 937-947, 1982.
[0030063]20651.Hrubisko, M.; Laluha, J.; Mergancova, O.; Zakovicova, S.: New variants in the ABOH blood group system due to interaction of recessive genes controlling the formation of H antigen in erythrocytes: the 'Bombay-like' phenotypes O HM, OB HM, OAB HM. Vox Sang. 19: 113-122, 1970.
[0030064]20652.Kelly, R. J.; Ernst, L. K.; Larsen, R. D.; Bryant, J. G.; Robinson, J. S.; Lowe, J. B.: Molecular basis for H blood group deficiency in Bombay (Oh) and para-Bombay individuals. Proc. Nat. Acad. Sci. 91: 5843-5847, 1994.
[0030065]20653.Koda, Y.; Soejima, M.; Johnson, P. H.; Smart, E.; Kimura, H.: Missense mutation of FUT1 and deletion of FUT2 are responsible for Indian Bombay phenotype at ABO blood group system. Biochem. Biophys. Res. Commun. 238: 21-25, 1997.
[0030066]20654.Larsen, R. D.; Ernst, L. K.; Nair, R. P.; Lowe, J. B.: Molecular cloning, sequence, and expression of a human GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase cDNA that can form the H blood group antigen. Proc. Nat. Acad. Sci. 87: 6674-6678, 1990.
[0030067]20655.Le Pendu, J.; Cartron, J. P.; Lemieux, R. U.; Oriol, R.: The presence of at least two different H-blood-group-related beta-D-Gal alpha-2-L-fucosyltransferases in human serum and the genetics of blood group H substances. Am. J. Hum. Genet. 37: 749-760, 1985.
[0030068]20656.Le Pendu, J.; Clamagirand-Mulet, C.; Cartron, J.-P.; Gerard, G.; Vitrac, D.; Oriol, R.: H-deficient blood groups of Reunion Island. III. Alpha-2-L-fucosyltransferase activity in sera of homozygous and heterozygous individuals. Am. J. Hum. Genet. 35: 497-507, 1983.
[0030069]20657.Le Pendu, J.; Gerard, G.; Vitrac, D.; Juszczak, G.; Liberge, G.; Rouger, P.; Salmon, C.; Lambert, F.; Dalix, A.-M.; Oriol, R.: H-deficient blood groups of Reunion Island. II. Differences between Indians (Bombay phenotype) and whites (Reunion phenotype). Am. J. Hum. Genet. 35: 484-496, 1983.
[0030070]20658.Levine, P.; Robinson, E.; Celano, M.; Briggs, O.; Falkinburg, L.: Gene interaction resulting in suppression of blood group substance B. Blood 10: 1100-1108, 1955.
[0030071]20659.Oriol, R.: Personal Communication. Paris, France 2/7/1983.
[0030072]20660.Sathe, M.; Bhatia, H. M.: Bombay (OH) phenotype in two generations in an Indian family. Vox Sang. 30: 312-314, 1976.
[0030073]20661.Yunis, E. J.; Svardal, J. M.; Bridges, R. A.: Genetics of the Bombay phenotype. Blood 33: 124-132, 1969.
[0030074]20662.Lees-Miller, J. P.; Helfman, D. M.: The molecular basis for tropomyosin isoform diversity. BioEssays 13: 429-437, 1991.
[0030075]20663.MacLeod, A. R.; Gooding, C.: Human hTM-alpha gene: expression in muscle and nonmuscle tissue. Molec. Cell. Biol. 8: 433-440, 1988.
[0030076]20664.Muthuchamy, M.; Pieples, K.; Rethinasamy, P.; Hoit, B.; Grupp, I. L.; Boivin, G. P.; Wolska, B.; Evans, C.; Solaro, R. J.; Wieczorek, D. F.: Mouse model of a familial hypertrophic cardiomyopathy mutation in alpha-tropomyosin manifests cardiac dysfunction. Circ. Res. 85: 47-56, 1999.
[0030077]20665.Schleef, M.; Werner, K.; Satzger, U.; Kaupmann, K.; Jockusch, H. : Chromosomal localization and genomic cloning of the mouse alpha-tropomyosin gene Tpm-1. Genomics 17: 519-521, 1993.
[0030078]20666.Thierfelder, L.; Watkins, H.; MacRae, C.; Lamas, R.; McKenna, W.; Vosberg, H.-P.; Seidman, J. G.; Seidman, C. E.: Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell 77: 701-712, 1994.
[0030079]20667.Watkins, H.; Anan, R.; Coviello, D. A.; Spirito, P.; Seidman, J. G.; Seidman, C. E.: A de novo mutation in alpha-tropomyosin that causes hypertrophic cardiomyopathy. Circulation 91: 2302-2305, 1995.
[0030080]20668.Watkins, H.; McKenna, W. J.; Thierfelder, L.; Suk, H. J.; Anan, R.; O'Donoghue, A.; Spirito, P.; Matsumori, A.; Moravec, C. S.; Seidman, J. G.; Seidman, C. E.: Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. New Eng. J. Med. 332: 1058-1064, 1995.
[0030081]20669.Gahlmann, R.; Kedes, L.: Cloning, structural analysis, and expression of the human fast twitch skeletal muscle troponin C gene. J. Biol. Chem. 265: 12520-12528, 1990.
[0030082]20670.Gahlmann, R.; Wade, R.; Gunning, P.; Kedes, L.: Differential expression of slow and fast skeletal muscle troponin C: slow skeletal muscle troponin C is expressed in human fibroblasts. J. Molec. Biol. 201: 379-391, 1988.
[0030083]20671.Townsend, P. J.; Yacoub, M. H.; Barton, P. J. R.: Assignment of the human fast skeletal muscle troponin C gene (TNNC2) between D20S721 and GCT10F11 on chromosome 20 by somatic cell hybrid analysis. Ann. Hum. Genet. 61: 457-459, 1997.
[0030084]20672.Bermingham, N.; Hernandez, D.; Balfour, A.; Gilmour, F.; Martin, J. E.; Fisher, E. M. C.: Mapping TNNC1, the gene that encodes cardiac troponin I in the human and mouse. Genomics 30: 620-622, 1995.
[0030085]20673.Kwon, B. S.; Halaban, R.; Chintamaneni, C.: Molecular basis of mouse Himalayan mutation. Biochem. Biophys. Res. Commun. 161: 252-260, 1989.
[0030086]20674.DiLella, A. G.: Chromosomal assignment of the human immunophilin FKBP-12 gene. Biochem. Biophys. Res. Commun. 179: 1427-1433, 1991.
[0030087]20675.DiLella, A. G.; Hawkins, A.; Craig, R. J.; Schreiber, S. L.; Griffin, C. A.: Chromosomal band assignments of the genes encoding human FKBP12 and FKBP13. Biochem. Biophys. Res. Commun. 189: 819-823, 1992.
[0030088]20676.Goebl, M. G.: The peptidyl-prolyl isomerase, FK506-binding protein, is most likely the 12 kd endogenous inhibitor 2 of protein kinase C. (Letter) Cell 64: 1051-1052, 1991.
[0030089]20677.Jin, Y.-J.; Albers, M. W.; Lane, W. S.; Bierer, B. E.; Schreiber, S. L.; Burakoff, S. J.: Molecular cloning of a membrane-associated human FK506- and rapamycin-binding protein, FKBP-13. Proc. Nat. Acad. Sci. 88: 6677-6681, 1991.
[0030090]20678.Maki, N.; Sekiguchi, F.; Nishimaki, J.; Miwa, K.; Hayano, T.; Takahashi, N.; Suzuki, M.: Complementary DNA encoding the human T-cell FK506-binding protein, a peptidylprolyl cis-trans isomerase distinct from cyclophilin. Proc. Nat. Acad. Sci. 87: 5440-5443, 1990.
[0030091]20679.Peattie, D. A.; Hsaio, K.; Benasutti, M.; Lippke, J. A.: Three distinct messenger RNAs can encode the human immunosuppressant-binding protein FKBP12. Gene 150: 251-257, 1994.
[0030092]20680.Shou, W.; Aghdasi, B.; Armstrong, D. L.; Guo, Q.; Bao, S.; Charng, M.-J.; Mathews, L. M.; Schneider, M. D.; Hamilton, S. L.; Matzuk, M. M.: Cardiac defects and altered ryanodine receptor function in mice lacking FKBP12. Nature 391: 489-492, 1998.
[0030093]20681.Standaert, R. F.; Galat, A.; Verdine, G. L.; Schreiber, S. L.: Molecular cloning and overexpression of the human FK506-binding protein FKBP. Nature 346: 671-674, 1990.
[0030094]20682.Wang, T.; Donahoe, P. K.; Zervos, A. S.: Specific interaction of type I receptors of the TGF-beta family with the immunophilin FKBP-12. Science 265: 674-676, 1994.
[0030095]20683.Bichi, R.; Shinton, S. A.; Martin, E. S.; Koval, A.; Calin, G. A.; Cesari, R.; Russo, G.; Hardy, R. R.; Croce, C. M.: Human chronic lymphocytic leukemia modeled in mouse by targeted TCL1 expression. Proc. Nat. Acad. Sci. 99: 6955-6960, 2002.
[0030096]20684.Davey, M. P.; Bertness, V.; Nakahara, K.; Johnson, J. P.; McBride, O. W.; Waldmann, T. A.; Kirsch, I. R.: Juxtaposition of the T-cell receptor alpha-chain locus (14q11) and a region (14q32) of potential importance in leukemogenesis by a 14;14 translocation in a patient with T-cell chronic lymphocytic leukemia and ataxia-telangiectasia. Proc. Nat. Acad. Sci. 85: 9287-9291, 1988.
[0030097]20685.Hecht, F.; Morgan, R.; Hecht, B. K.-M.; Smith, S. D.: Common region on chromosome 14 in T-cell leukemia and lymphoma. Science 226: 1445-1447, 1984.
[0030098]20686.Laine, J.; Kunstle, G.; Obata, T.; Sha, M.; Noguchi, M.: The protooncogene TCL1 is an Akt kinase coactivator. Molec. Cell 6: 395-407, 2000.
[0030099]20687.Mathieu-Mahul, D.; Caubet, J. F.; Bernheim, A.; Mauchauffe, M.; Palmer, E.; Berger, R.; Larsen, C.-J.: Molecular cloning of a DNA fragment from human chromosome 14(14q11) involved in T-cell malignancies. EMBO J. 4: 3427-3433, 1985.
[0030100]20688.Mengle-Gaw, L.; Albertson, D. G.; Sherrington, P. D.; Rabbitts, T. H.: Analysis of a Tcell tumor-specific breakpoint cluster at human chromosome 14q32. Proc. Nat. Acad. Sci. 85: 9171-9175, 1988.
[0030101]20689.Howard, H. C.; Mount, D. B.; Rochefort, D.; Byun, N.; Dupre, N.; Lu, J.; Fan, X.; Song, L.; Riviere, J.-B.; Prevost, C.; Horst, J.; Simonati, A.; and 12 others: The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. Nature Genet. 7Oct, 2002. Note: Advance Electronic Publication.
[0030102]20690.Haire, R. N.; Litman, G. W.: The murine form of TXK, a novel TEC kinase expressed in thymus maps to chromosome 5. Mammalian Genome 6: 476-480, 1995.
[0030103]20691.Haire, R. N.; Ohta, Y.; Lewis, J. E.; Fu, S. M.; Kroisel, P.; Litman, G. W.: TXK, a novel human tyrosine kinase expressed in T cells shares sequence identity with Tec family kinases and maps to 4p12. Hum. Molec. Genet. 3: 897-901, 1994.
[0030104]20692.Schneider, H.; Schwartzberg, P. L.; Rudd, C. E.: Resting lymphocyte kinase (Rlk/Txk) phosphorylates the YVKM motif and regulates PI 3-kinase binding to T-cell antigen CTLA-4. Biochem. Biophys. Res. Commun. 252: 14-19, 1998.
[0030105]20693.Takeba, Y.; Nagafuchi, H.; Takeno, M.; Kashiwakura, J.; Suzuki, N.: Txk, a member of nonreceptor tyrosine kinase of Tec family, acts as a Th1 cell-specific transcription factor and regulates IFN-gamma gene transcription. J. Immun. 168: 2365-2370, 2002.
[0030106]20694.Gasdaska, J. R.; Gasdaska, P. Y.; Gallegos, A.; Powis, G.: Human thioredoxin reductase gene localization to chromosomal position 12q23-q24.1 and mRNA distribution in human tissue. Genomics 37: 257-259, 1996.
[0030107]20695.Gasdaska, P. Y.; Gasdaska, J. R.; Cochran, S.; Powis, G.: Cloning and sequencing of a human thioredoxin reductase. FEBS Lett. 373: 5-9, 1995.
[0030108]20696.Russo, M. W.; Sevetson, B. R.; Milbrandt, J.: Identification of NAB1, a repressor of NGFI-A- and Krox20-mediated transcription. Proc. Nat. Acad. Sci. 92: 6873-6877, 1995.
[0030109]20697.Svaren, J.; Apel, E. D.; Simburger, K. S.; Jenkins, N. A.; Gilbert, D. J.; Copeland, N. A.; Milbrandt, J.: The Nab2 and Stat6 genes share a common transcription termination region. Genomics 41: 33-39, 1997.
[0030110]20698.Swirnoff, A. H.; Apel, E. D.; Svaren, J.; Sevetson, B. R.; Zimonjic, D. B.; Popescu, N. C.; Milbrandt, J.: Nab1, a corepressor of NGFI-A (Egr-1), contains an active transcriptional repression domain. Molec. Cell. Biol. 18: 512-524, 1998.
[0030111]20699.Venken, K.; Di Maria, E.; Bellone, E.; Balestra, P.; Cassandrini, D.; Mandich, P.; De Jonghe, P.; Timmerman, V.; Svaren, J.: Search for mutation in the EGR2 corepressor proteins, NAB1 and NAB2, in human peripheral neuropathies. Neurogenetics 4: 37-41, 2002.
[0030112]20700.Nichols, R. C.; Blinder, J.; Pai, S. I.; Ge, Q.; Targoff, I. N.; Plotz, P. H.; Liu, P.: Assignment of two human autoantigen genes: isoleucyl-tRNA synthetase locates to 9q21 and lysyl-tRNA synthetase locates to 16q23-q24. Genomics 36: 210-213, 1996.
[0030113]20701.Nichols, R. C.; Raben, N.; Boerkoel, C. F.; Plotz, P. H.: Human isoleucyl-tRNA synthetase: sequence of the cDNA, alternative mRNA splicing, and the characteristics of an unusually long C-terminal extension. Gene 155: 299-304, 1995.
[0030114]20702.Tommerup, N.; Leffers, H.: Assignment of human KH-box-containing genes by in situ hybridization: HNRNPK maps to 9q21.32-q21.33, PCBP1 to 2p12-p13, and PCBP2 to 12q13.12-q13.13, distal to FRA12A. Genomics 32: 297-298, 1996.
[0030115]20703.Martell, K. J.; Kwak, S.; Hakes, D. J.; Dixon, J. E.; Trent, J. M.: Chromosomal localization of four human VH1-like protein-tyrosine phosphatases. Genomics 22: 462-464, 1994.
[0030116]20704.Chrast, R.; Chen, H.; Morris, M. A.; Antonarakis, S. E.: Mapping of the human transcription factor GABPA (E4TF1-60) gene to chromosome 21. Genomics 28: 119-122, 1995.
[0030117]20705.Gugneja, S.; Virbasius, J. V.; Scarpulla, R. C.: Four structurally distinct, non-DNAbinding subunits of human nuclear respiratory factor 2 share a conserved transcriptional activation domain. Molec. Cell. Biol. 15: 102-111, 1995.
[0030118]20706.Guo, A.; Nie, F.; Wong-Riley, M.: Human nuclear respiratory factor 2-alpha subunit cDNA: isolation, subcloning, sequencing, and in situ hybridization of transcripts in normal and monocularly deprived macaque visual system. J. Comp. Neurol. 417: 221-232, 2000.
[0030119]20707.Sawada, J.; Goto, M.; Watanabe, H.; Handa, H.; Yoshida, M. C.: Regional mapping of two subunits of transcription factor E4TF1 to human chromosome. Jpn. J. Cancer Res. 86: 10-12, 1995.
[0030120]20708.Virbasius, J. V.; Scarpulla, R. C.: Activation of the human mitochondrial transcription factor A gene by nuclear respiratory factors: a potential regulatory link between nuclear and mitochondrial gene expression in organelle biogenesis. Proc. Nat. Acad. Sci. 91: 1309-1313, 1994.
[0030121]20709.Watanabe, H.; Sawada, J.; Yano, K.-I.; Yamaguchi, K.; Goto, M.; Handa, H.: cDNA cloning of transcription factor E4TF1 subunits with Ets and notch motifs. Molec. Cell. Biol. 13: 1385-1391, 1993.
[0030122]20710.Chambraud, B.; Radanyi, C.; Camonis, J. H.; Rajkowski, K.; Schumacher, M.; Baulieu, E.-E.: Immunophilins, Refsum disease, and lupus nephritis: the peroxisomal enzyme phytanoyl-CoA alpha-hydroxylase is a new FKBP-associated protein. Proc. Nat. Acad. Sci. 96: 2104-2109, 1999.
[0030123]20711.Dixon, J.; Loftus, S. K.; Gladwin, A. J.; Scambler, P. J.; Wasmuth, J. J.; Dixon, M. J.: Cloning of the human heparan sulfate-N-deacetylase/N-sulfotransferase gene from the Treacher Collins syndrome candidate region at 5q32-q33.1. Genomics 26: 239-244, 1995.
[0030124]20712.Gladwin, A. J.; Dixon, J.; Loftus, S. K.; Wasmuth, J. J.; Dixon, M. J.: Genomic organization of the human heparan sulfate-N-deacetylase/N-sulfotransferase gene: exclusion from a causative role in the pathogenesis of Treacher Collins syndrome. Genomics 32: 471-473, 1996.
[0030125]20713.Hashimoto, Y.; Orellana, A.; Gil, G.; Hirschberg, C. B.: Molecular cloning and expression of rat liver N-heparan sulfate sulfotransferase. J. Biol. Chem. 267: 15744-15750, 1995.
[0030126]20714.Chen, H.; Antonarakis, S. E.: Localisation of a human homologue of the Drosophila mnb and rat Dyrk genes to chromosome 21q22.2. Hum. Genet. 99: 262-265, 1997.
[0030127]20715.Patil, N.; Cox, D. R.; Bhat, D.; Faham, M.; Myers, R. M.; Peterson, A. S.: A potassium channel mutation in weaver mice implicates membrane excitability in granule cell differentiation. Nature Genet. 11: 126-129, 1995.
[0030128]20716.Shindoh, N.; Kudoh, J.; Maeda, H.; Yamaki, A.; Minoshima, S.; Shimizu, Y.; Shimizu, N.: Cloning of a human homolog of the Drosophila minibrain/rat Dyrk gene from 'the Down syndrome critical region' of chromosome 21. Biochem. Biophys. Res. Commun. 225: 92-99, 1996.
[0030129]20717.Smith, D. J.; Stevens, M. E.; Sudanagunta, S. P.; Bronson, R. T.; Makhinson, M.; Watabe, A. M.; O'Dell, T. J.; Fung, J.; Weier, H.-U. G.; Cheng, J.-F.; Rubin, E. M.: Functional screening of 2 Mb of human chromosome 21q22.2 in transgenic mice implicates minibrain in learning defects associated with Down syndrome. Nature Genet. 16: 28-36, 1997.
[0030130]20718.Song, W.-J.; Chung, S.-H.; Kurnit, D. M.: The murine Dyrk protein maps to chromosome 16, localizes to the nucleus, and can form multimers. Biochem. Biophys. Res. Commun. 231: 640-644, 1997.
[0030131]20719.Song, W.-J.; Sternberg, L. R.; Kasten-Sportes, C.; Van Keuren, M. L.; Chung, S.-H.; Slack, A. C.; Miller, D. E.; Glover, T. W.; Chiang, P.-W.; Lou, L.; Kurnit, D. M.: Isolation of human and murine homologues of the Drosophila minibrain gene: human homologue maps to 21q22.2 in the Down syndrome 'critical region.' Genomics 38: 331-339, 1996.
[0030132]20720.Tejedor, F.; Zhu, X. R.; Kaltenbach, E.; Ackermann, A.; Baumann, A.; Canal, I.; Heisenberg, M.; Fischbach, K. F.; Pongs, O.: Minibrain: a new protein kinase family involved in postembryonic neurogenesis in Drosophila. Neuron 14: 287-301, 1995.
[0030133]20721.Algar, E.; Brickell, S.; Deeble, G.; Amor, D.; Smith, P.: Analysis of CDKN1C in Beckwith Wiedemann syndrome. Hum. Mutat. 15: 497-508, 2000.
[0030134]20722.Bhuiyan, Z. A.; Yatsuki, H.; Sasaguri, T.; Joh, K.; Soejima, H.; Zhu, X.; Hatada, I. Morisaki, H.; Morisaki, T.; Mukai, T.: Functional analysis of the p57(KIP2) gene mutation in Beckwith-Wiedemann syndrome. Hum. Genet. 104: 205-210, 1999.
[0030135]20723.Fitzpatrick, G. V.; Soloway, P. D.; Higgins, M. J.: Regional loss of imprinting and growth deficiency in mice with a targeted deletion of KvDMR1. Nature Genet. 9Sept, 2002. Note: Advance Electronic Publication.
[0030136]20724.Hatada, I.; Mukai, T.: Genomic imprinting of p57(KIP2), a cyclin-dependent kinase inhibitor, in mouse. Nature Genet. 11: 204-206, 1995.
[0030137]20725.Hatada, I.; Nabetani, A.; Morisaki, H.; Xin, Z.; Ohishi, S.; Tonoki, H.; Niikawa, N.; Inoue, M.; Komoto, Y.; Okada, A.; Steichen, E.; Ohashi, H.; Fukushima, Y.; Nakayama, M.; Mukai, T.: New p57(KIP2) mutations in Beckwith-Wiedemann syndrome. Hum. Genet. 100: 681-683, 1997.
[0030138]20726.Hatada, I.; Ohashi, H.; Fukushima, Y.; Kaneko, Y.; Inoue, M.; Komoto, Y.; Okada, A.; Ohishi, S.; Nabetani, A.; Morisaki, H.; Nakayama, M.; Niikawa, M,; Mukai, T.: An imprinted gene p57(KIP2) is mutated in Beckwith-Wiedemann syndrome. Nature Genet. 14: 171-173, 1996.
[0030139]20727.John, R. M.; Ainscough, J. F.-X.; Barton, S. C.; Surani, M. A. : Distant cis-elements regulate imprinted expression of the mouse p57(Kip2) (Cdkn1c) gene: implications for the human disorder, Beckwith-Wiedemann syndrome. Hum. Molec. Genet. 10: 1601-1609, 2001.
[0030140]20728.Lee, M.-H.; Reynisdottir, I.; Massague, J.: Cloning of p57(KIP2), a cyclin-dependent kinase inhibitor with unique domain structure and tissue distribution. Genes Dev. 9: 639-649, 1995.
[0030141]20729.Zhang, X.; Zhou, J.; Reeders, S. T.; Tryggvason, K.: Structure of the human type IV collagen COL4A6 gene, which is mutated in Alport syndrome-associated leiomyomatosis. Genomics 33: 473-479, 1996.
[0030142]20730.Zhou, J.; Ding, M.; Zhao, Z.; Reeders, S. T.: Complete primary structure of the sixth chain of human basement membrane collagen, alpha-6(IV): isolation of the cDNAs for alpha-6(IV) and comparison with five other type IV collagen chains. J. Biol. Chem. 269: 13193-13199, 1994.
[0030143]20731.Nathans, J.; Maumenee, I. H.; Zrenner, E.; Sadowski, B.; Sharpe, L. T.; Lewis, R. A.; Hansen, E.; Rosenberg, T.; Schwartz, M.; Heckenlively, J. R.; Traboulsi, E.; Klingaman, R.; Bech-Hansen, N. T.; LaRoche, G. R.; Pagon, R. A.; Murphey, W. H.; Weleber, R. G.: Genetic heterogeneity among blue-cone monochromats. Am. J. Hum. Genet. 53: 987-1000, 1993.
[0030144]20732.Bell, J.; Haldane, J. B. S.: The linkage between the genes for colour-blindness and haemophilia in man. Proc. Roy. Soc. London 123B: 119-150, 1937.
[0030145]20733.Filippi, G.; Rinaldi, A.; Palmarino, R.; Seravalli, E.; Siniscalco, M.: Linkage disequilibrium for two X-linked genes in Sardinia and its bearing on the statistical mapping of the human X chromosome. Genetics 86: 199-222, 1977.
[0030146]20734.Thompson, D. A.; McHenry, C. L.; Li, Y.; Richards, J. E.; Othman, M. I.; Schwinger, E.; Vollrath, D.; Jacobson, S. G.; Gal, A.: Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively. Am. J. Hum. Genet. 70: 224-229, 2002.
[0030147]20735.Aguirre, G. D.; Baldwin, V.; Weeks, K. M.; Acland, G. M.; Ray, K.: Frequency of the codon 807 mutation in the cGMP phosphodiesterase beta-subunit gene in Irish setters and other dog breeds with hereditary retinal degeneration. J. Hered. 90: 143-147, 1999.
[0030148]20736.Bateman, J. B.; Klisak, I.; Kojis, T.; Mohandas, T.; Sparkes, R. S.; Li, T.; Applebury, M. L.; Bowes, C.; Farber, D. B.: Assignment of the beta-subunit of rod photoreceptor cGMP phosphodiesterase gene PDEB (homolog of the mouse rd gene) to human chromosome 4p16. Genomics 12: 601-603, 1992.
[0030149]20737.Bayes, M.; Giordano, M.; Balcells, S.; Grinberg, D.; Vilageliu, L.; Martinez, I.; Ayuso, C.; Benitez, J.; Ramos-Arroyo, M. A.; Chivelet, P.; Solans, T.; Valverde, D.; Amselem, S.; Goossens, M.; Baiget, M.; Gonzalez-Duarte, R.; Besmond, C.: Homozygous tandem duplication within the gene encoding the beta-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa. Hum. Mutat. 5: 228-234, 1995.
[0030150]20738.Bennett, J.; Tanabe, T.; Sun, D.; Zeng, Y.; Kjeldbye, H.; Gouras, P.; Maguire, A. M.: Photoreceptor cell rescue in retinal degeneration (rd) mice by in vivo gene therapy. Nature Med. 2: 649, 1996.
[0030151]20739.Bowes, C.; Danciger, M.; Kozak, C. A.; Farber, D. B.: Isolation of a candidate cDNA for the gene causing retinal degeneration in the rd mouse. Proc. Nat. Acad. Sci. 86: 9722-9726, 1989. Note: Erratum: Proc. Nat. Acad. Sci 87:1625, 1990...
[0030152]20740.Bowes, C.; Li, T.; Danciger, M.; Baxter, L. C.; Applebury, M. L.; Farber, D. B.: Retinal degeneration in the rd mouse is caused by a defect in the beta subunit of rod cGMPphosphodiesterase. Nature 347: 677-680, 1990.
[0030153]20741.Bowes, C.; Li, T.; Frankel, W. N.; Danciger, M.; Coffin, J. M.; Applebury, M. L.; Farber, D. B.: Localization of a retroviral element within the rd gene coding for the beta subunit of cGMP phosphodiesterase. Proc. Nat. Acad. Sci. 90: 2955-2959, 1993.
[0030154]20742.Cachon-Gonzalez, M. B.; Fenner, S.; Coffin, J. M.; Moran, C.; Best, S.; Stoye, J. P.: Structure and expression of the hairless gene of mice. Proc. Nat. Acad. Sci. 91: 7717-7721, 1994.
[0030155]20743.Clements, P. J. M.; Gregory, C. Y.; Peterson-Jones, S. M.; Sargan, D. R.; Bhattacharya, S. S.: Confirmation of the rod cGMP phosphodiesterase beta subunit (PDE-beta) nonsense mutation in affected rcd-1 Irish setters in the UK and the development of a diagnostic test. Curr. Eye Res. 12: 861-866, 1993.
[0030156]20744.Collins, C.; Hutchinson, G.; Kowbel, D.; Riess, O.; Weber, B.; Hayden, M. R.: The human beta-subunit of rod photoreceptor cGMP phosphodiesterase: complete retinal cDNA sequence and evidence for expression in brain. Genomics 13: 698-704, 1992.
[0030157]20745.Danciger, M.; Bowes, C.; Kozak, C. A.; LaVail, M. M.; Farber, D. B.: Fine mapping of a putative rd cDNA and its cosegregation with rd expression. Invest. Ophthalmol. Vis. Sci. 31: 1427-1432, 1990.
[0030158]20746.Farber, D. B.; Danciger, J. S.; Aguirre, G.: The beta subunit of cyclic GMP phosphodiesterase mRNA is deficient in canine rod-cone dysplasia 1. Neuron 9: 349-356, 1992.
[0030159]20747.Farber, D. B.; Lolley, R. N.: Enzyme basis for cyclic GMP accumulation in degenerative photoreceptor cells of mouse retina. J. Cyclic Nucleotide Res. 2: 139-148, 1976.
[0030160]20748.Farber, D. B.; Lolley, R. N.: Cyclic guanosine monophosphate: elevation in degenerating photoreceptor cells of the C3H mouse retina. Science 186: 449-451, 1974.
[0030161]20749.Gal, A.; Orth, U.; Baehr, W.; Schwinger, E.; Rosenberg, T.: Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness. Nature Genet. 7: 64-68, 1994. Note: Correction: Nature Genet. 7: 551 only, 1994...
[0030162]20750.Bogenmann, E.; Lochrie, M. A.; Simon, M. I.: Cone cell-specific genes expressed in retinoblastoma. Science 240: 76-78, 1988.
[0030163]20751.Bonaiti-Pellie, C.; Briard-Guillemot, M. L.: Segregation analysis in hereditary retinoblastoma. Hum. Genet. 57: 411-419, 1981.
[0030164]20752.Nagasaki, H.; Ito, M.; Yuasa, H.; Saito, H.; Fukase, M.; Hamada, K.; Ishikawa, E.; Katakami, H.; Oiso, Y.: Two novel mutations in the coding region for neurophysin-II associated with familial central diabetes insipidus. J. Clin. Endocr. Metab. 80: 1352-1356, 1995.
[0030165]20753.Bartram, C. R.; de Klein, A.; Hagemeijer, A.; van Agthoven, T.; Geurts van Kessel, A.; Bootsma, D.; Grosveld, G.; Ferguson-Smith, M. A.; Davies, T.; Stone, M.; Heisterkamp, N.; Stephenson, J. R.; Groffen, J.: Translocation of c-abl oncogene correlates with the presence of a Philadelphia chromosome in chronic myelocytic leukaemia. Nature 306: 277-280, 1983.
[0030166]20754.Rittig, S.; Robertson, G. L.; Siggaard, C.; Kovacs, L.; Gregersen, N.; Nyborg, J.; Pedersen, E. B.: Identification of 13 new mutations in the vasopressin-neurophysin II gene in 17 kindreds with familial autosomal dominant neurohypophyseal diabetes insipidus. Am. J. Hum. Genet. 58: 107-117, 1996.
[0030167]20755.Russell, J. T.; Brownstein, M. J.; Gainer, H.: Trypsin liberates an arginine vasopressinlike peptide and neurophysin from a M(r)20,000 putative common precursor. Proc. Nat. Acad. Sci. 76: 6086-6090, 1979.
[0030168]20756.Sachs, H.; Fawcett, P.; Takabatake, Y.; Portanova, R.: Biosynthesis and release of vasopressin and neurophysin. Recent Prog. Horm. Res. 25: 447-491, 1969.
[0030169]20757.O'Brien, R. O.; Taske, N. L.; Hansbro, P. M.; Matthaei, K. I.; Hogan, S. P.; Denborough, M. A.; Foster, P. S.: Exclusion of defects in the skeletal muscle specific regions of the DHPR alpha-1 subunit as frequent causes of malignant hyperthermia. J. Med. Genet. 32: 913-914, 1995.
[0030170]20758.Wichterle, H.; Hanspal, M.; Palek, J.; Jarolim, P.: Combination of two mutant alpha spectrin alleles underlies a severe spherocytic hemolytic anemia. J. Clin. Invest. 98: 2300-2307, 1996.
[0030171]20759.Nijenhuis, M.; van den Akker, E. L. T.; Zalm, R.; Franken, A. A. M.; Abbes, A. P.; Engel, H.; de Wied, D.; Burbach, J. P. H.: Familial neurohypophysial diabetes insipidus in a large Dutch kindred: effect of the onset of diabetes on growth in children and cell biological defects of the mutant vasopressin prohormone. J. Clin. Endocr. Metab. 86: 3410-3420, 2001.
[0030172]20760.Nijenhuis, M.; Zalm, R.; Burbach, J. P. H.: Mutations in the vasopressin prohormone involved in diabetes insipidus impair endoplasmic reticulum export but not sorting. J. Biol. Chem. 274: 21200-21208, 1999.
[0030173]20761.Olias, G.; Richter, D.; Schmale, H.: Heterologous expression of human vasopressinneurophysin precursors in a pituitary cell line: defective transport of a mutant protein from patients with familial diabetes insipidus. DNA Cell Biol. 15: 929-935, 1996.
[0030174]20762.Repaske, D. R.; Summar, M. L.; Krishnamani, M. R. S.; Gultekin, E. K.; Arriazu, M. C.; Roubicek, M. E.; Blanco, M.; Isaac, G. B.; Phillips, J. A., III: Recurrent mutations in the vasopressinneurophysin II gene cause autosomal dominant neurohypophyseal diabetes insipidus. J. Clin. Endocr. Metab. 81: 2328-2334, 1996.
[0030175]20763.Riddell, D. C.; Mallonee, R.; Phillips, J. A.; Parks, J. S.; Sexton, L. A.; Hamerton, J. L.: Chromosomal assignment of human sequences encoding arginine vasopressin-neurophysin II and growth hormone releasing factor. Somat. Cell Molec. Genet. 11: 189-195, 1985.
[0030176]20764.Repaske, D. R.; Medlej, R.; Gultekin, E. K.; Krishnamani, M. R. S.; Halaby, G.; Findling, J. W.; Phillips, J. A., III: Heterogeneity in clinical manifestation of autosomal dominant neurohypophyseal diabetes insipidus caused by a mutation encoding Ala-1 Val in the signal peptide of the arginine vasopressin/neurophysin II/copeptin precursor. J. Clin. Endocr. Metab. 82: 51-56, 1997.
[0030177]20765.Rutishauser, J.; Boni-Schnetzler, M.; Boni, J.; Wichmann, W.; Huisman, T.; Vallotton, M. B.; Froesch, E. R.: A novel point mutation in the translation initiation codon of the pre-provasopressin-neurophysin II gene: Cosegregation with morphological abnormalities and clinical symptoms in autosomal dominant neurohypophyseal diabetes. J. Clin. Endocr. Metab. 81: 192-198, 1996.
[0030178]20766.Sausville, E.; Carney, D.; Battey, J.: The human vasopressin gene is linked to the oxytocin gene and is selectively expressed in a cultured lung cancer cell line. J. Biol. Chem. 260: 10236-10241, 1985.
[0030179]20767.Scherbaum, W. A.; Bottazzo, G. F.: Autoantibodies to vasopressin cells in idiopathic diabetes insipidus: evidence for an autoimmune variant. Lancet I: 897-901, 1983.
[0030180]20768.Siggaard, C.; Rittig, S.; Corydon, T. J.; Andreasen, P. H.; Jensen, T. G.; Andresen, B. S.; Robertson, G. L.; Gregersen, N.; Bolund, L.; Pedersen, E. B.: Clinical and molecular evidence of abnormal processing and trafficking of the vasopressin preprohormone in a large kindred with familial neurohypophyseal diabetes insipidus due to a signal peptide mutation. J. Clin. Endocr. Metab. 84: 2933-2941, 1999.
[0030181]20769.Summar, M. L.; Phillips, J. A., III; Battey, J.; Castiglione, C. M.; Kidd, K. K.; Maness, K. J.; Weiffenbach, B.; Gravius, T. C. : Linkage relationships of human arginine vasopressinneurophysin-II and oxytocin-neurophysin-I to prodynorphin and other loci on chromosome 20. Molec. Endocr. 4: 947-950, 1990.
[0030182]20770.Sunde, D. A.; Sokol, H. W.: Quantification of rat neurophysins by polyacrylamide gel electrophoresis (page): application to the rat with hereditary hypothalamic diabetes insipidus. Ann. N.Y. Acad. Sci. 248: 345-364, 1975.
[0030183]20771.Ueta, Y.; Taniguchi, S.; Yoshida, A.; Murakami, I.; Mitani, Y.; Hisatome, I.; Manabe, I.; Sato, R.; Tsuboi, M.; Ohtahara, A.; Nanba, E.; Shigemasa, C.: A new type of familial central diabetes insipidus caused by a single base substitution in the neurophysin II coding region of the vasopressin gene. J. Clin. Endocr. Metab. 81: 1787-1790, 1996.
[0030184]20772.Valtin, H.; Sawyer, W. H.; Sokol, H. W.: Neurohypophyseal principles in rats homozygous and heterozygous for hypothalamic diabetes insipidus (Brattleboro strain). Endocrinology 77: 701-706, 1965.
[0030185]20773.van Leeuwen, F. W.; de Kleijn, D. P. V.; van den Hurk, H. H.; Neubauer, A.; Sonnemans, M. A. F.; Sluijs, J. A.; Koycu, S.; Ramdjielal, R. D. J.; Salehi, A.; Martens, G. J. M.; Grosveld, F. G.; Burbach, J. P. H.; Hol, E. M.: Frameshift mutants of beta-amyloid precursor protein and ubiquitin-B in Alzheimer's and Down patients. Science 279: 242-247, 1998.
[0030186]20774.Yuasa, H.; Ito, M.; Nagasaki, H.; Oiso, Y.; Miyamoto, S.; Sasaki, N.; Saito, H.: Glu-47, which forms a salt bridge between neurophysin-II and arginine vasopressin, is deleted in patients with familial central diabetes insipidus. J. Clin. Endocr. Metab. 77: 600-604, 1993.
[0030187]20775.Oesterling, J. E.; Chan, D. W.; Epstein, J. I.; Kimball, A. W., Jr.; Bruzek, D. J.; Rock, R. C.; Brendler, C. B.; Walsh, P. C.: Prostate specific antigen in the preoperative and postoperative evaluation of localized prostatic cancer treated with radical prostatectomy. J. Urol. 139: 766-772, 1988.
[0030188]20776.Riegman, P. H. J.; Vlietstra, R. J.; van der Korput, J. A. G. M.; Brinkmann, A. O.; Trapman, J.: The promoter of the prostate-specific antigen gene contains a functional androgen responsive element. Molec. Endocr. 5: 1921-1930, 1991.
[0030189]20777.van den Elsen, P.; Bruns, G.; Gerhard, D. S.; Pravtcheva, D.; Jones, C.; Housman, D.; Ruddle, F. A.; Orkin, S.; Terhorst, C.: Assignment of the gene coding for the T3-delta subunit of the T3--T-cell receptor complex to the long arm of human chromosome 11 and to mouse chromosome 9. Proc. Nat. Acad. Sci. 82: 2920-2924, 1985.
[0030190]20778.van Rijs, J.; Giguere, V.; Hurst, J.; van Agthoven, T.; Geurts van Kessel, A.; Goyert, S.; Grosveld, F.: Chromosomal localization of the human Thy-1 gene. Proc. Nat. Acad. Sci. 82: 5832-5835, 1985.
[0030191]20779.Williams, A. F.; Gagnon, J.: Neuronal cell Thy-1 glycoprotein: homology with immunoglobulin. Science 216: 696-703, 1982.
[0030192]20780.Johansson, M.; Karlsson, A.: Cloning of the cDNA and chromosome localization of the gene for human thymidine kinase 2. J. Biol. Chem. 272: 8454-8458, 1997.
[0030193]20781.Mandel, H.; Szargel, R.; Labay, V.; Elpeleg, O.; Saada, A.; Shalata, A.; Anbinder, Y.; Berkowitz, D.; Hartman, C.; Barak, M.; Eriksson, S.; Cohen, N.: The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nature Genet. 29: 337-341, 2001. Note: Erratum: Nature Genet. 29: 491 only, 2001.
[0030194]20782.Saada, A.; Shaag, A.; Mandel, H.; Nevo, Y.; Eriksson, S.; Elpeleg, O.: Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. Nature Genet. 29: 342-344, 2001.
[0030195]20783.Wang, L.; Munch-Petersen, B.; Herrstrom Sjoberg, A.; Hellman, U.; Bergman, T.; Jornvall, H.; Eriksson, S.: Human thymidine kinase 2: molecular cloning and characterisation of the enzyme activity with antiviral and cytostatic nucleoside substrates. FEBS Lett. 443: 170-174, 1999.
[0030196]20784.Willecke, K.; Reuber, T.; Kucherlapati, R. S.; Ruddle, F. H.: Human mitochondrial thymidine kinase is coded for by a gene on chromosome 16 of the nucleus. Somat. Cell Genet. 3: 237-245, 1977.
[0030197]20785.Klobutcher, L. A.; Ruddle, F. H.: Phenotype stabilisation and integration of transferred material in chromosome-mediated gene transfer. Nature 280: 657-660, 1979.
[0030198]20786.Kuo, W.-L.; Hirschhorn, R.; Huie, M. L.; Hirschhorn, K.: Localization and ordering of acid alpha-glucosidase (GAA) and thymidine kinase (TK1) by fluorescence in situ hybridization. Hum. Genet. 97: 404-406, 1996.
[0030199]20787.Chang, J. G.; Scarpa, A.; Eddy, R. L.; Byers, M. G.; Harris, A. S.; Morrow, J. S.; Watkins, P.; Shows, T. B.; Forget, B. G.: Cloning of a portion of the chromosomal gene and cDNA for human beta-fodrin, the nonerythroid form of beta-spectrin. Genomics 17: 287-293, 1993.
[0030200]20788.Watkins, P. C.; Eddy, R.; Forget, B. G.; Chang, J. G.; Rochelle, R.; Shows, T. B.: Assignment of a non-erythroid spectrin gene to human chromosome 2. (Abstract) Am. J. Hum. Genet. 43: A161, 1988.
[0030201]20789.Birkenmeier, C. S.; McFarland-Starr, E. C.; Barker, J. E.: Chromosomal location of three spectrin genes: relationship to the inherited hemolytic anemias of mouse and man. Proc. Nat. Acad. Sci. 85: 8121-8125, 1988.
[0030202]20790.Agre, P.; Asimos, A.; Casella, J. F.; McMillan, C.: Inheritance pattern and clinical response to splenectomy as a reflection of erythrocyte spectrin deficiency in hereditary spherocytosis. New Eng. J. Med. 315: 1579-1583, 1986.
[0030203]20791.Alloisio, N.; Guetarni, D.; Morle, L.; Pothier, B.; Ducluzeau, M. T.; Soun, A.; Colonna, P.; Clerc, M.; Philippe, N.; Delaunay, J. : SP-alpha(I/65) hereditary elliptocytosis in North Africa. Am. J. Hemat. 23: 113-122, 1986.
[0030204]20792.Alloisio, N.; Morle, L.; Pothier, B.; Roux, A.-F.; Marechal, J.; Ducluzeau, M.-T.; Benhadji-Zouaoui, Z.; Delaunay, J.: Spectrin Oran (alpha II/21), a new spectrin variant concerning the alpha II domain and causing severe elliptocytosis in the homozygous state. Blood 71: 1039-1047, 1988.
[0030205]20793.Alloisio, N.; Wilmotte, R.; Marechal, J.; Texier, P.; Denoroy, L.; Feo, C.; Benhadji-Zouaoui, Z.; Delaunay, J.: A splice site mutation of alpha-spectrin gene causing skipping of exon 18 in hereditary elliptocytosis. Blood 81: 2791-2798, 1993.
[0030206]20794.Alloisio, N.; Wilmotte, R.; Morle, L.; Baklouti, F.; Marechal, J.; Ducluzeau, M.-T.; Denoroy, L.; Feo, C.; Forget, B. G.; Kastally, R.; Delaunay, J.: Spectrin Jendouba: an alpha-II/31 spectrin variant that is associated with elliptocytosis and carries a mutation distant from the dimer self-association site. Blood 80: 809-815, 1992.
[0030207]20795.Baklouti, F.; Marechal, J.; Morle, L.; Alloisio, N.; Wilmotte, R.; Pothier, B.; Ducluzeau, M.-T.; Kastally, R.; Delaunay, J.: Occurrence of the alpha-I 22 arg-to-his (CGT-to-CAT) spectrin mutation in Tunisia: potential association with severe elliptopoikilocytosis. Brit. J. Haemat. 78: 108-113, 1991.
[0030208]20796.Boulanger, L.; LeCompte, M.-C.; Dhermy, D.; Garbarz, M.: Fast screening methods to detect mutations of spectrin in subjects with hereditary elliptocytosis. (Letter) Am. J. Hum. Genet. 51: 440-442, 1992.
[0030209]20797.Burke, J. P. W. G.; Van Zyl, D.; Zail, S. S.; Coetzer, T. L.: Reduced spectrin-ankyrin binding in a South African hereditary elliptocytosis kindred homozygous for spectrin St Claude. (Letter) Blood 92: 2591-2592, 1998.
[0030210]20798.Coetzer, T.; Zail, S.: Spectrin tetramer-dimer equilibrium in hereditary elliptocytosis. Blood 59: 900-905, 1982.
[0030211]20799.Coetzer, T. L.; Sahr, K.; Prchal, J.; Blacklock, H.; Peterson, L.; Koler, R.; Doyle, J.; Manaster, J.; Palek, J.: Four different mutations in codon 28 of alpha spectrin are associated with structurally and functionally abnormal spectrin alpha(I/74) in hereditary elliptocytosis. J. Clin. Invest. 88: 743-749, 1991.
[0030212]20800.Dalla Venezia, N.; Wilmotte, R.; Morle, L.; Forissier, A.; Parquet, N.; Garbarz, M.; Rousset, T.; Dhermy, D.; Alloisio, N.; Delaunay, J.: An alpha-spectrin mutation responsible for hereditary elliptocytosis associated in cis with the alpha-V/41 polymorphism. Hum. Genet. 90: 641-644, 1993.
[0030213]20801.Delaunay, J.; Dhermy, D.: Mutations involving the spectrin heterodimer contact site: clinical expression and alterations in specific function. Seminars Hemat. 30: 21-33, 1993.
[0030214]20802.del Giudice, E. M.; Ducluzeau, M. T.; Alloisio, N.; Wilmotte, R.; Delaunay, J.; Perrotta, S.; Cutillo, S.; Iolascon, A.: Alpha(I/65) hereditary elliptocytosis in southern Italy: evidence for an African origin. Hum. Genet. 89: 553-556, 1992.
[0030215]20803.Dhermy, D.; Lecomte, M. C.; Garbarz, M.; Bournier, O.; Galand, C.; Gautero, H.; Feo, C.; Alloisio, N.; Delaunay, J.; Boivin, P.: Spectrin beta-chain variant associated with hereditary elliptocytosis. J. Clin. Invest. 70: 707-715, 1982.
[0030216]20804.Elgsaeter, A.; Stokke, B. T.; Mikkelsen, A.; Branton, D.: The molecular basis of erythrocyte shape. Science 234: 1217-1223, 1986.
[0030217]20805.Miceli-Richard, C.; Lesage, S.; Rybojad, M.; Prieur, A.-M.; Manouvrier-Hanu, S.; Hafner, R.; Chamaillard, M.; Zouali, H.; Thomas, G.; Hugot, J.-P. : CARD15 mutations in Blau syndrome. Nature Genet. 29: 19-20, 2001.
[0030218]20806.Bernards, A.; Rubin, C. M.; Westbrook, C. A.; Paskind, M.; Baltimore, D.: The first intron in the human c-abl gene is at least 200 kilobases long and is a target for translocations in chronic myelogenous leukemia. Molec. Cell. Biol. 7: 3231-3236, 1987.
[0030219]20807.Clark, S. S.; McLaughlin, J.; Crist, W. M.; Champlin, R.; Witte, O. N.: Unique forms of the abl tyrosine kinase distinguish Ph-1-positive CML from Ph-1-positive ALL. Science 235: 85-88, 1986.
[0030220]20808.Collins, S. J.; Groudine, M. T.: Rearrangement and amplification of c-abl sequences in the human chronic myelogenous leukemia cell line K-562. Proc. Nat. Acad. Sci. 80: 4813-4817, 1983.
[0030221]20809.Cong, F.; Spencer, S.; Cote, J.-F.; Wu, Y.; Tremblay, M. L.; Lasky, L. A.; Goff, S. P.: Cytoskeletal protein PSTPIP1 directs the PEST-type protein tyrosine phosphatase to the c-Abl kinase to mediate Abl dephosphorylation. Molec. Cell 6: 1413-1423, 2000.
[0030222]20810.Fainstein, E.; Marcelle, C.; Rosner, A.; Canaani, E.; Gale, R. P.; Dreazen, O.; Smith, S. D.; Croce, C. M.: A new fused transcript in Philadelphia chromosome positive acute lymphocytic leukaemia. Nature 330: 386-388, 1987.
[0030223]20811.Goff, S. P.; D'Eustachio, P.; Ruddle, F. H.; Baltimore, D.: Chromosomal assignment of endogenous protooncogene c-abl. Science 218: 1317-1319, 1982.
[0030224]20812.Gong, J.; Costanzo, A.; Yang, H.-Q.; Melino, G.; Kaelin, W. G., Jr.; Levrero, M.; Wang, J. Y. J.: The tyrosine kinase c-Abl regulates p73 in apoptotic response to cisplatin-induced DNA damage. Nature 399: 806-809, 1999.
[0030225]20813.Han, L. Wong, D.; Dhaka, A.; Afar, D.; White, M.; Xie, W.; Herschman, H.; Witte, O.: Colicelli, J.: Protein binding and signaling properties of RIN1 suggest a unique effector function. Proc. Nat. Acad. Sci. 94: 4954-4959, 1997.
[0030226]20814.Heisterkamp, N.; Groffen, J.; Stephenson, J. R.; Spurr, N. K.; Goodfellow, P. N.; Solomon, E.; Carritt, B.; Bodmer, W. F.: Chromosomal localization of human cellular homologues of two viral oncogenes. Nature 299: 747-749, 1982.
[0030227]20815.Heisterkamp, N.; Stephenson, J. R.; Groffen, J.; Hansen, P. F.; de Klein, A.; Bartram, C. R.; Grosveld, G.: Localization of the c-abl oncogene adjacent to a translocation breakpoint in chronic myelocytic leukaemia. Nature 306: 239-242, 1983.
[0030228]20816.Hoffman-Falk, H.; Einat, P.; Shilo, B.-Z.; Hoffmann, F. M.: Drosophila melanogaster DNA clones homologous to vertebrate oncogenes: evidence for a common ancestor to the src and abl cellular genes. Cell 32: 589-598, 1983.
[0030229]20817.Huntly, B. J. P.; Reid, A. G.; Bench, A. J.; Campbell, L. J.; Telford, N.; Shepherd, P.; Szer, J.; Prince, H. M.; Turner, P.; Grace, C.; Nacheva, E. P.; Green, A. R.: Deletions of the derivative chromosome 9 occur at the time of the Philadelphia translocation and provide a powerful and independent prognostic indicator in chronic myeloid leukemia. Blood 98: 1732-1738, 2001.
[0030230]20818.Jhanwar, S. C.; Neel, B. G.; Hayward, W. S.; Chaganti, R. S. K. : Localization of the cellular oncogenes ABL, SIS, and FES on human germ-line chromosomes. Cytogenet. Cell Genet. 38: 73-75, 1984.
[0030231]20819.Konopka, J. B.; Watanabe, S. M.; Singer, J. W.; Collins, S. J.; Witte, O. N.: Cell lines and clinical isolates derived from Ph1-positive chronic myelogenous leukemia patients express c-abl proteins with a common structural alteration. Proc. Nat. Acad. Sci. 82: 1810-1814, 1985.
[0030232]20820.Kurzrock, R.; Shtalrid, M.; Romero, P.; Kloetzer, W. S.; Talpas, M.; Trujillo, J. M.; Blick, M.; Beran, M.; Gutterman, J. U.: A novel c-abl protein product in Philadelphia-positive acute lymphoblastic leukaemia. Nature 325: 631-635, 1987.
[0030233]20821.Lane, M.-A.; Neary, D.; Cooper, G. M.: Activation of a cellular transforming gene in tumours induced by Abelson murine leukaemia virus. Nature 300: 659-661, 1982.
[0030234]20822.Li, B.; Boast, S.; de los Santos, K.; Schieren, I.; Quiroz, M.; Teitelbaum, S. L.; Tondravi, M. M.; Goff, S. P.: Mice deficient in Abl are osteoporotic and have defects in osteoblast maturation. Nature Genet. 24: 304-308, 2000.
[0030235]20823.Melo, J. V.; Gordon, D. E.; Cross, N. C. P.; Goldman, J. M.: The ABL-BCR fusion gene is expressed in chronic myeloid leukemia. Blood 81: 158-165, 1993.
[0030236]20824.Pluk, H.; Dorey, K.; Superti-Furga, G.: Autoinhibition of c-Abl. Cell 108: 247-259, 2002.
[0030237]20825.Schindler, T.; Bornmann, W.; Pellicena, P.; Miller, W. T.; Clarkson, B.; Kuriyan, J.: Structural mechanism for STI-571 inhibition of Abelson tyrosine kinase. Science 289: 1938-1941, 2000.
[0030238]20826.Schwartzberg, P. L.; Stall, A. M.; Hardin, J. D.; Bowdish, K. S.; Humaran, T.; Boast, S.; Harbison, M. L.; Robertson, E. J.; Goff, S. P.: Mice homozygous for the abl(m1) mutation show poor viability and depletion of selected B and T cell populations. Cell 65: 1165-1175, 1991.
[0030239]20827.Scott, M. L.; Van Etten, R. A.; Daley, G. Q.; Baltimore, D.: v-abl causes hematopoietic disease distinct from that caused by bcr-abl. Proc. Nat. Acad. Sci. 88: 6506-6510, 1991.
[0030240]20828.Bouhassira, E. E.; Schwartz, R. S.; Yawata, Y.; Ata, K.; Nagel, R. L.; Rybicki, A. C.: An alanine to threonine substitution in protein 4.2 cDNA is associated with a Japanese form of hereditary hemolytic anemia. (Abstract) Clin. Res. 39: 313A, 1991.
[0030241]20829.Davies, K. A.; Lux, S. E.: Hereditary disorders of the red cell membrane skeleton. Trends Genet. 5: 222-227, 1989.
[0030242]20830.Ghanem, A.; Pothier, B.; Marechal, J.; Ducluzeau, M. T.; Morle, L.; Alloisio, N.; Feo, C.; Ben Abdeladhim, A.; Fattoum, S.; Delaunay, J.: A haemolytic syndrome associated with the complete absence of red cell membrane protein 4.2 in two Tunisian siblings. Brit. J. Haemat. 75: 414-420, 1990.
[0030243]20831.Grenard, P.; Bates, M. K.; Aeschlimann, D.: Evolution of transglutaminase genes: identification of a transglutaminase gene cluster on human chromosome 15q15: structure of the gene encoding transglutaminase X and a novel gene family member, transglutaminase Z. J. Biol. Chem. 276: 33066-33078, 2001.
[0030244]20832.Gwynn, B.; Korsgren, C.; Cohen, C. M.; Ciciotte, S. L.; Peters, L. L.: The gene encoding protein 4.2 is distinct from the mouse platelet storage pool deficiency mutation pallid. Genomics 42: 532-535, 1997.
[0030245]20833.Hayashi, S.; Koomoto, R.; Yano, A.; Ishigami, S.; Tsujino, G.; Saeki, S.; Tanaka, T.: Abnormality in a specific protein of the erythrocyte membrane in hereditary spherocytosis. Biochem. Biophys. Res. Commun. 57: 1038-1044, 1974.
[0030246]20834.Hayette, S.; Dhermy, D.; dos Santos, M.-E.; Bozon, M.; Drenckhahn, D.; Alloisio, N.; Texier, P.; Delaunay, J.; Morle, L.: A deletional frameshift mutation in protein 4.2 gene (allele 4.2 Lisboa) associated with hereditary hemolytic anemia. Blood 85: 250-256, 1995.
[0030247]20835.Hayette, S.; Morle, L.; Bozon, M.; Ghanem, A.; Risinger, M.; Korsgren, C.; Tanner, M. J. A.; Fattoum, S.; Cohen, C. M.; Delaunay, J.: A point mutation in the protein 4.2 gene (allele 4.2 Tozeur) associated with hereditary haemolytic anaemia. Brit. J. Haemat. 89: 762-770, 1995.
[0030248]20836.Ideguchi, H.; Nishimura, J.; Nawata, H.; Hamasaki, N.: A genetic defect of erythrocyte band 4.2 protein associated with hereditary spherocytosis. Brit. J. Haemat. 74: 347-353, 1990.
[0030249]20837.Iwamoto, S.; Kajii, E.; Omi, T.; Kamesaki, T.; Akifuji, Y.; Ikemoto, S.: Point mutation in the band 4.2 gene associated with autosomal recessively inherited erythrocyte band 4.2 deficiency. Europ. J. Haemat. 50: 286-291, 1993.
[0030250]20838.Korsgren, C.; Cohen, C. M.: Organization of the gene for human erythrocyte membrane protein 4.2: structural similarities with the gene for the A subunit of factor XIII. Proc. Nat. Acad. Sci. 88: 4840-4844, 1991.
[0030251]20839.Korsgren, C.; Cohen, C. M.: cDNA sequence, gene sequence, and properties of murine pallidin (band 4.2), the protein implicated in the murine pallid mutation. Genomics 21: 478-485, 1994.
[0030252]20840.Korsgren, C.; Lawler, J.; Lambert, S.; Speicher, D.; Cohen, C. M.: Complete amino acid sequence and homologies of human erythrocyte membrane protein band 4.2. Proc. Nat. Acad. Sci. 87: 613-617, 1990.
[0030253]20841.Matsuda, M.; Hatano, N.; Ideguchi, H.; Takahira, H.; Fukumaki, Y.: A novel mutation causing an aberrant splicing in the protein 4.2 gene associated with hereditary spherocytosis (protein 4.2-Notame). Hum. Molec. Genet. 4: 1187-1191, 1995.
[0030254]20842.Najfeld, V.; Ballard, S. G.; Menninger, J.; Ward, D. C.; Bouhassira, E. E.; Schwartz, R. S.; Nagel, R. L.; Rybicki, A. C.: The gene for human erythrocyte protein 4.2 maps to chromosome 15q15. Am. J. Hum. Genet. 50: 71-75, 1992.
[0030255]20843.Nozawa, Y.; Hogushi, T.; Iida, H.; Fukushima, H.; Sekiya, T.; Ito, Y.: Erythrocyte membranes in hereditary spherocytosis: alterations in surface ultrastructure and membrane proteins as inferred by scanning electron microscopy and SDS gel electrophoresis. Clin. Chim. Acta 55: 81-85, 1974.
[0030256]20844.Perrotta, S.; Iolascon, A.; Polito, R.; d'Urzo, G.; Conte, M. L.; Miraglia del Giudice, E.: 4.2 Nippon mutation in a non-Japanese patient with hereditary spherocytosis. (Letter) Haematologica 84: 660-662, 1999.
[0030257]20845.Rybicki, A. C.; Heath, R.; Wolf, J. L.; Lubin, B.; Schwartz, R. S.: Deficiency of protein 4.2 in erythrocytes from a patient with a Coombs negative hemolytic anemia: evidence for a role of protein 4.2 in stabilizing ankyrin on the membrane. J. Clin. Invest. 81: 893-901, 1988.
[0030258]20846.Sung, L. A.; Chien, S.; Chang, L.-S.; Lambert, K.; Bliss, S. A.; Bouhassira, E. E.; Nagel, R. L.; Schwartz, R. S.; Rybicki, A. C.: Molecular cloning of human protein 4.2: a major component of the erythrocyte membrane. Proc. Nat. Acad. Sci. 87: 955-959, 1990.
[0030259]20847.Sung, L. A.; Fan, Y. S.; Lambert, K.; Chien, S.; Lin, C.: Mapping of gene for human erythrocyte protein 4.2 to chromosomal region 15q15-q21. (Abstract) Cytogenet. Cell Genet. 58: 1996, 1991.
[0030260]20848.White, R. A.; Dowler, L. L.; Hummel, G. S.; Adkison, L. R.: Exclusion of Epb4.2 as a candidate for the mouse mutant pallid. Mouse News Letter 95: 492-494, 1997.
[0030261]20849.White, R. A.; Peters, L. L.; Adkison, L. R.; Korsgren, C.; Cohen, C. M.; Lux, S. E.: The murine pallid mutation is a platelet storage pool disease associated with the protein 4.2 (pallidin) gene. Nature Genet. 2: 80-83, 1992.
[0030262]20850.Blank, V.; Andrews, N. C.: The Maf transcription factors: regulators of differentiation. Trends Biochem. Sci. 22: 437-441, 1997.
[0030263]20851.Jamieson, R. V.; Perveen, R.; Kerr, B.; Carette, M.; Yardley, J.; Heon, E.; Wirth, M. G.; van Heyningen, V.; Donnai, D.; Munier, F.; Black, G. C. M.: Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. Hum. Molec. Genet. 11: 33-42, 2002.
[0030264]20852.Kim, J. I.; Li, T.; Ho, I. C.; Grusby, M. J.; Glimcher, L. H.: Requirement for the c-Maf transcription factor in crystallin gene regulation and lens development. Proc. Nat. Acad. Sci. 96: 3781-3785, 1999.
[0030265]20853.Nishizawa, M.; Kataoka, K.; Goto, N.; Fujiwara, K. T.; Kawai, S. : v-maf, a viral oncogene that encodes a 'leucine zipper' motif. Proc. Nat. Acad. Sci. 86: 7711-7715, 1989.
[0030266]20854.Yoshida, M. C.; Nishizawa, M.; Kataoka, K.; Goto, N.; Fujiwara, K. T.; Kawai, S.: Localization of the human MAF protooncogene on chromosome 16 to bands q22-q23. (Abstract) Cytogenet. Cell Genet. 58: 2003 only, 1991.
[0030267]20855.Harbers, K.; Kuehn, M.; Delius, H.; Jaenisch, R.: Insertion of retrovirus into the first intron of alpha 1 (I) collagen gene to embryonic lethal mutation in mice. Proc. Nat. Acad. Sci. 81: 1504-1508, 1984.
[0030268]20856.Howard, I. K.: Clyde Edgar Keeler (1900-1994): geneticist, artist, cultural historian. J. Hered. 86: 489-491, 1995.
[0030269]20857.Jenkins, N. A.; Copeland, N. G.; Taylor, B. A.; Lee, B. K.: Dilute (d) coat colour mutation of DBA/2J mice is associated with the site of integration of an ecotropic MLV genome. Nature 293: 370-374, 1981.
[0030270]20858.Keeler, C. E.: The inheritance of a retinal abnormality in white mice. Proc. Nat. Acad. Sci. 10: 329-333, 1924.
[0030271]20859.Khramtsov, N. V.; Feshchenko, E. A.; Suslova, V. A.; Shmukler, B. E.; Terpugov, B. E.; Rakitina, T. V.; Atabekova, N. V.; Lipkin, V. M.: The human rod photoreceptor cGMP phosphodiesterase beta-subunit: structural studies of its cDNA and gene. FEBS Lett. 327: 275-278, 1993.
[0030272]20860.Lem, J.; Flannery, J. G.; Li, T.; Applebury, M. L.; Farber, D. B.; Simon, M. I.: Retinal degeneration is rescued in transgenic rd mice by expression of the cGMP phosphodiesterase beta subunit. Proc. Nat. Acad. Sci. 89: 4422-4426, 1992.
[0030273]20861.McKusick, V. A.: The effect of lithium on the electrocardiogram of animals and relation of this effect to the ratio of the intracellular and extracellular concentrations of potassium. J. Clin. Invest. 33: 598-610, 1954.
[0030274]20862.McLaughlin, M. E.; Ehrhart, T. L.; Berson, E. L.; Dryja, T. P. : Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa. Proc. Nat. Acad. Sci. 92: 3249-3253, 1995.
[0030275]20863.McLaughlin, M. E.; Sandberg, M. A.; Berson, E. L.; Dryja, T. P. : Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa. Nature Genet. 4: 130-134, 1993.
[0030276]20864.Pittler, S. J.; Baehr, W.: Identification of a nonsense mutation in the rod photoreceptor cGMP phosphodiesterase beta-subunit gene of the rd mouse. Proc. Nat. Acad. Sci. 88: 8322-8326, 1991.
[0030277]20865.Pittler, S. J.; Keeler, C. E.; Sidman, R. L.; Baehr, W.: PCR analysis of DNA from 70-year-old sections of rodless retina demonstrates identity with the mouse rd defect. Proc. Nat. Acad. Sci. 90: 9616-9619, 1993.
[0030278]20866.Ray, K.; Baldwin, V. J.; Acland, G. M.; Blanton, S. H.; Aguirre, G. D.: Cosegregation of codon 807 mutation of the canine rod cGMP phosphodiesterase beta gene and rcd1. Invest. Ophthal. Vis. Sci. 35: 4291-4299, 1994.
[0030279]20867.Riess, O.; Kozak, C.; Van Ommen, G.-J.: Report of the fourth international workshop on human chromosome 4 mapping 1996. Cytogenet. Cell Genet. 74: 57-69, 1996.
[0030280]20868.Riess, O.; Noerremoelle, A.; Collins, C.; Mah, D.; Weber, B.; Hayden, M. R.: Exclusion of DNA changes in the beta-subunit of the c-GMP phosphodiesterase gene as the cause for Huntington's disease. Nature Genet. 1: 104-108, 1992.
[0030281]20869.Riess, O.; Noerremoelle, A.; Weber, B.; Musarella, M. A.; Hayden, M. R.: The search for mutations in the gene for the beta subunit of the cGMP phosphodiesterase (PDEB) in patients with autosomal recessive retinitis pigmentosa. Am. J. Hum. Genet. 51: 755-762, 1992.
[0030282]20870.Sidman, R. L.; Green, M. C.: Retinal degeneration in the mouse. J. Hered. 56: 23-29, 1965.
[0030283]20871.Suber, M. L.; Pittler, S. J.; Qin, N.; Wright, G. C.; Holcombe, V.; Lee, R. H.; Craft, C. M.; Lolley, R. N.; Baehr, W.; Hurwitz, R. L.: Irish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase beta-subunit gene. Proc. Nat. Acad. Sci. 90: 3968-3972, 1993.
[0030284]20872.Weber, B.; Collins, C.; Kowbel, D.; Riess, O.; Hayden, M. R.: Identification of multiple CpG islands and associated conserved sequences in a candidate region for the Huntington disease gene. Genomics 11: 1113-1124, 1991.
[0030285]20873.Weber, B.; Riess, O.; Hutchinson, G.; Collins, C.; Lin, B.; Kowbel, D.; Andrew, S.; Schappert, K.; Hayden, M. R.: Genomic organization and complete sequence of the human gene encoding the beta-subunit of the cGMP phosphodiesterase and its localisation to 4p16.3. Nucleic Acids Res. 19: 6263-6268, 1991.
[0030286]20874.Bear, J. C.; Nemec, T. F.; Kennedy, J. C.; Marshall, W. H.; Power, A. A.; Kolonel, V. M.; Burke, G. B.: Inbreeding in outport Newfoundland. Am. J. Med. Genet. 29: 649-660, 1988.
[0030287]20875.Fontaine, B.; Vale-Santos, J.; Jurkat-Rott, K.; Reboul, J.; Plassart, E.; Rime, C.-S.; Elbaz, A.; Heine, R.; Guimaraes, J.; Weissenbach, J.; Baumann, N.; Fardeau, M.; Lehmann-Horn, F.: Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families. Nature Genet. 6: 267-272, 1994.
[0030288]20876.Jurkat-Rott, K.; Mitrovic, N.; Hang, C.; Kouzmekine, A.; Iaizzo, P.; Herzog, J.; Lerche, H.; Nicole, S.; Vale-Santos, J.; Chauveau, D.; Fontaine, B.; Lehmann-Horn, F.: Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current. Proc. Nat. Acad. Sci. 97: 9549-9554, 2000.
[0030289]20877.Ptacek, L. J.; Tawil, R.; Griggs, R. C.; Engel, A. G.; Layzer, R. B.; Kwiecinski, H.; McManis, P. G.; Santiago, L.; Moore, M.; Fouad, G.; Bradley, P.; Leppert, M. F.: Dihydropyridine receptor mutations cause hypokalemic periodic paralysis. Cell 77: 863-868, 1994.
[0030290]20878.Armstrong, F. S.: Hyperkalemic familial periodic paralysis (adynamia episodica hereditaria). Ann. Intern. Med. 57: 455-461, 1962.
[0030291]20879.Bennani-Baiti, I. M.; Jones, B. K.; Liebhaber, S. A.; Cooke, N. E.: Physical linkage of the human growth hormone gene cluster and the skeletal muscle sodium channel alpha-subunit gene (SCN4A) on chromosome 17. Genomics 29: 647-652, 1995.
[0030292]20880.Borg, K.; Hovmoller, M.; Larsson, L.; Edstrom, L.: Paramyotonia congenita (Eulenberg): clinical, neurophysiological and muscle biopsy observations in a Swedish family. Acta Neurol. Scand. 87: 37-42, 1993.
[0030293]20881.Burama, O. J. S.; Schipperheyn, J. J.: Periodic paralysis.In: Vinken, P. J.; Bruyn, G. W.: Handbook of Clinical Neurology. Part II, Diseases of Muscle. Amsterdam: Elsevier/North Holland (pub.) 41: 1979. Pp. 147-174.
[0030294]20882.Eulenberg, A.: Ueber eine familiare, durch 6 generationen verfolgbare Form congenitaler Paramyotonie. Neurologisches Centralblatt 12: 265-272, 1886.
[0030295]20883.Feero, W. G.; Wang, J.; Barany, F.; Zhou, J.; Todorovic, S. M.; Conwit, R.; Galloway, G.; Hausmanowa-Petrusewicz, I.; Fidzianska, A.; Arahata, K.; Wessel, H. B.; Wadelius, C.; Marks, H. G.; Hartlage, P.; Hayakawa, H.; Hoffman, E. P.: Hyperkalemic periodic paralysis: rapid molecular diagnosis and relationship of genotype to phenotype in 12 families. Neurology 43: 668-673, 1993.
[0030296]20884.Fontaine, B.; Khurana, T. S.; Hoffman, E. P.; Bruns, G. A. P.; Haines, J. L.; Trofatter, J. A.; Hanson, M. P.; Rich, J.; McFarlane, H.; Yasek, D. M.; Romano, D.; Gusella, J. F.; Brown, R. H., Jr.: Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene. Science 250: 1000-1002, 1990.
[0030297]20885.George, A. L., Jr.; Ledbetter, D. H.; Kallen, R. G.; Barchi, R. L.: Assignment of a human skeletal muscle sodium channel alpha-subunit gene (SCN4A) to 17q23.1-25.3. Genomics 9: 555-556, 1991.
[0030298]20886.Ammann, A. J.; Cain, W. A.; Ishizaka, K.; Hong, R.; Good, R. A. : Immunoglobulin E deficiency in ataxia-telangiectasia. New Eng. J. Med. 281: 469-472, 1969.
[0030299]20887.Amromin, G. D.; Boder, E.; Teplitz, R.: Ataxia-telangiectasia with a 32-year survival: a clinicopathological report. J. Neuropath. Exp. Neurol. 38: 621-643, 1979.
[0030300]20888.Athma, P.; Rappaport, R.; Swift, M.: Molecular genotyping shows that ataxiatelangiectasia heterozygotes are predisposed to breast cancer. Cancer Genet. Cytogenet. 92: 130-134, 1996.
[0030301]20889.Aurias, A.; Croquette, M. F.; Nuyts, J. P.; Griscelli, C.; Dutrillaux, B.: New data on clonal anomalies of chromosome 14 in ataxia telangiectasia: tct(14;14) and inv(14). Hum. Genet. 72: 22-24, 1986.
[0030302]20890.Aurias, A.; Dutrillaux, B.: A possible new type of chromosome rearrangement: telomere-centromere translocation (tct) followed by double duplication. Hum. Genet. 72: 25-26, 1986.
[0030303]20891.Aurias, A.; Dutrillaux, B.: Probable involvement of immunoglobulin superfamily genes in most recurrent chromosomal rearrangements from ataxia telangiectasia. Hum. Genet. 72: 210-214, 1986.
[0030304]20892.Aurias, A.; Dutrillaux, B.; Buriot, D.; Lejeune, J.: High frequencies of inversions and translocations of chromosomes 7 and 14 in ataxia-telangiectasia. Mutat. Res. 69: 369-374, 1980.
[0030305]20893.Aurias, A.; Dutrillaux, B.; Griscelli, C.: Tandem translocation t(14;14) in isolated and clonal cells in ataxia telangiectasia are different. Hum. Genet. 63: 320-322, 1983.
[0030306]20894.Baker, B. S.; Boyd, J. B.; Carpenter, A. T. C.; Green, M. M.; Nguyen, T. D.; Ripoll, P.; Smith, P. D.: Genetic controls of meiotic recombination and somatic DNA metabolism in Drosophila melanogaster. Proc. Nat. Acad. Sci. 73: 4140-4144, 1976.
[0030307]20895.Banga, S. S.; Shenkar, R.; Boyd, J. B.: Hypersensitivity of Drosophila mei-41 mutants to hydroxyurea is associated with reduced mitotic chromosome stability. Mutat. Res. 163: 157-165, 1986.
[0030308]20896.Banin, S.; Moyal, L.; Shieh, S.-Y.; Taya, Y.; Anderson, C. W.; Chessa, L.; Smorodinsky, N. I.; Prives, C.; Reiss, Y.; Shiloh, Y.; Ziv, Y.: Enhanced phosphorylation of p53 by ATM in response to DNA damage. Science 281: 1674-1677, 1998.
[0030309]20897.Bao, S.; Tibbetts, R. S.; Brumbaugh, K. M.; Fang, Y.; Richardson, D. A.; Ali, A.; Chen, S. M.; Abraham, R. T.; Wang, X.-F.: ATR/ATM-mediated phosphorylation of human Rad17 is required for genotoxic stress responses. Nature 411: 969-974, 2001.
[0030310]20898.Bar, R. S.; Levis, W. R.; Rechler, M. M.; Harrison, L. C.; Siebert, C.; Podskalny, J.; Roth, J.; Muggeo, M.: Extreme insulin resistance in ataxia telangiectasia: defect in affinity of insulin receptors. New Eng. J. Med. 298: 1164-1171, 1978.
[0030311]20899.Barlow, C.; Dennery, P. A.; Shigenaga, M. K.; Smith, M. A.; Morrow, J. D.; Roberts, L. J., II; Wynshaw-Boris, A.; Levine, R. L.: Loss of the ataxia-telangiectasia gene product causes oxidative damage in target organs. Proc. Nat. Acad. Sci. 96: 9915-9919, 1999.
[0030312]20900.Barlow, C.; Eckhaus, M. A.; Schaffer, A. A.; Wynshaw-Boris, A. : Atm haploinsufficiency results in increased sensitivity to sublethal doses of ionizing radiation in mice. Nature Genet. 21: 359-360, 1999.
[0030313]20901.Barlow, C.; Hirotsune, S.; Paylor, R.; Liyanage, M.; Eckhaus, M.; Collins, F.; Shiloh, Y.; Crawley, J. N.; Ried, T.; Tagle, D.; Wynshaw-Boris, A.: Atm-deficient mice: a paradigm of ataxia telangiectasia. Cell 86: 159-171, 1996.
[0030314]20902.Bay, J.-O.; Uhrhammer, N.; Pernin, D.; Presneau, N.; Tchirkov, A.; Vuillaume, M.; Laplace, V.; Grancho, M.; Verrelle, P.; Hall, J.; Bignon, Y.-J.: High incidence of cancer in a family segregating a mutation of the ATM gene: possible role of ATM heterozygosity in cancer. Hum. Mutat. 14: 485-492, 1999.
[0030315]20903.Becker, Y.; Tabor, E.; Asher, Y.: Ataxia-telangiectasia fibroblasts have less fibronectin mRNA than control cells but have the same levels of integrin and beta-actin mRNA. Hum. Genet. 81: 165-170, 1989.
[0030316]20904.Bender, M. A.; Rary, J. M.; Kale, R. P.: G(2) chromosomal radiosensitivity in ataxia telangiectasia lymphocytes. Mutat.Res. 152: 39-47, 1985.
[0030317]20905.Bender, M. A.; Rary, J. M.; Kale, R. P.: G(0) chromosomal radiosensitivity in ataxia telangiectasia lymphocytes. Mutat. Res. 150: 277-282, 1985.
[0030318]20906.Bernstein, R.; Pinto, M.; Jenkins, T.: Ataxia telangiectasia with evolution of monosomy 14 and emergence of Hodgkin's disease. Cancer Genet. Cytogenet. 4: 31-37, 1981.
[0030319]20907.Bigbee, W. L.; Langlois, R. G.; Swift, M.; Jensen, R. H.: Evidence for an elevated frequency of in vivo somatic cell mutations in ataxia telangiectasia. Am. J. Hum. Genet. 44: 402-408, 1989.
[0030320]20908.Bishop, D. T.; Hopper, J.: AT-tributable risks? Nature Genet. 15: 226 only, 1997.
[0030321]20909.Bochkov, N. P.; Lopukhin, Y. M.; Kuleshov, N. P.; Kovalchuk, L. V.: Cytogenetic study of patients with ataxia-telangiectasia. Humangenetik 24: 115-128, 1974.
[0030322]20910.Boder, E.: Ataxia-telangiectasia: an overview.In: Gatti, R. A.; Swift, M.: Ataxiatelangiectasia: Genetics, Neuropathology and Immunology of a Degenerative Disease of Childhood. New York: Alan R. Liss (pub.) 1985. Pp. 1-63.
[0030323]20911.Boder, E.: Ataxia-telangiectasia: some historic, clinical and pathologic observations.In: Bergsma, D. (ed.): Immunodeficiency in Man and Animals. New York: National Foundation-March of Dimes (pub.) 1975. Pp. 255-300.
[0030324]20912.Boder, E.; Sedgwick, R. P.: Ataxia-telangiectasia: a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection. Pediatrics 21: 526-554, 1958.
[0030325]20913.Borghesani, P. R.; Alt, F. W.; Bottaro, A.; Davidson, L.; Aksoy, S.; Rathbun, G. A.; Roberts, T. M.; Swat, W.; Segal, R. A.; Gu, Y. : Abnormal development of Purkinje cells and lymphocytes in Atm mutant mice. Proc. Nat. Acad. Sci. 97: 3336-3341, 2000.
[0030326]20914.Boyd, J. B.; Golino, M. D.; Nguyen, T. D.; Green, M. M.: Isolation and characterization of X-linked mutants of Drosophila melanogaster which are sensitive to mutagens. Genetics 84: 485-506, 1976.
[0030327]20915.Bridges, B. A.; Arlett, C. F.: Risk of breast cancer in ataxia-telangiectasia. (Letter) New Eng. J. Med. 326: 1357-1361, 1992.
[0030328]20916.Bridges, B. A.; Harnden, D. G.: Ataxia-telangiectasia: A Cellular and Molecular Link between Cancer, Neuropathology, and Immune Deficiency. New York: John Wiley (pub.) 1982.
[0030329]20917.Barbosa, M. D. F. S.; Barrat, F. J.; Tchernev, V. T.; Nguyen, Q. A.; Mishra, V. S.; Colman, S. D.; Pastural, E.; Dufourcq-Lagelouse, R.; Fischer, A.; Holcombe, R. F.; Wallace, M. R.; Brandt, S. J.; de Saint Basile, G.; Kingsmore S. F.: Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse. Hum. Molec. Genet. 6: 1091-1098, 1997.
[0030330]20918.Barrat, F. J.; Auloge, L.; Pastural, E.; Dufourcq Lagelouse, R.; Vilmer, E.; Cant, A. J.; Weissenbach, J.; Le Paslier, D.; Fischer, A.; de Saint Basile, G.: Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43. Am. J. Hum. Genet. 59: 625-632, 1996.
[0030331]20919.Dufourcq-Lagelouse, R.; Lambert, N.; Duval, M.; Viot, G.; Vilmer, E.; Fischer, A.; Prieur, M.; de Saint Basile, G.: Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1. Europ. J. Hum. Genet. 7: 633-637, 1999.
[0030332]20920.Faigle, W.; Raposo, G.; Tenza, D.; Pinet, V.; Vogt, A. B.; Kropshofer, H.; Fischer, A.; de Saint-Basile, G.; Amigorena, S.: Deficient peptide loading and MHC class II endosomal sorting in a human genetic immunodeficiency disease: the Chediak-Higashi syndrome. J. Cell Biol. 141: 1121-1134, 1998.
[0030333]20921.Karim, M. A.; Suzuki, K.; Fukai, K.; Oh, J.; Nagle, D. L.; Moore, K. J.; Barbosa, E.; Falik-Borenstein, T.; Filipovich, A.; Ishida, Y. Kivrikko, S.; Klein, C.; and 8 others: Apparent genotypephenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome. Am. J. Med. Genet. 108: 16-22, 2002.
[0030334]20922.Kunieda, T.; Ide, H.; Nakagiri, M.; Yoneda, K.; Konfortov, B.; Ogawa, H.: Localization of the locus responsible for Chediak-Higashi syndrome in cattle to bovine chromosome 28. Anim. Genet. 31: 87-90, 2000.
[0030335]20923.El-Ashry, M. F.; El-Aziz, M. M. A.; Wilkins, S.; Cheetham, M. E.; Wilkie, S. E.; Hardcastle A. J.; Halford, S.; Bayoumi, A. Y.; Ficker, L. A.; Tuft, S.; Bhattacharya, S. S.; Ebenezer, N. D.: Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy. Invest. Ophthal. Vis. Sci. 43: 377-382, 2002.
[0030336]20924.Akama, T. O.; Nishida, K.; Nakayama, J.; Watanabe, H.; Ozaki, K.; Nakamura, T.; Dota, A.; Kawasaki, S.; Inoue, Y.; Maeda, N.; Yamamoto, S.; Fujiwara, T.; Thonar, E. J.-M. A.; Shimomura, Y.; Kinoshita, S.; Tanigami, A.; Fukuda, M. N.: Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene. Nature Genet. 26: 237-241, 2000.
[0030337]20925.Hasegawa, N.; Torii, T.; Kato, T.; Miyajima, H.; Furuhata, A.; Nakayasu, K.; Kanai, A.; Habuchi, O.: Decreased GlcNAc 6-O-sulfotransferase activity in the cornea with macular corneal dystrophy. Invest. Ophthal. Vis. Sci. 41: 3670-3677, 2000.
[0030338]20926.Enomoto, A.; Kimura, H.; Chairoungdua, A.; Shigeta, Y.; Jutabha, P.; Cha, S. H.; Hosoyamada, M.; Takeda, M.; Sekine, T.; Igarashi, T.; Matsuo, H.; Kikuchi, Y.; Oda, T.; Ichida, K.; Hosoya, T.; Shimokata, K.; Niwa, T.; Kanai, Y.; Endou, H.: Molecular identification of a renal urateanion exchanger that regulates blood urate levels. Nature 417: 447-452, 2002.
[0030339]20927.Anderson, S. L.; Coli, R.; Daly, I. W.; Kichula, E. A.; Rork, M. J.; Volpi, S. A.; Ekstein, J.; Rubin, B. Y.: Familial dysautonomia is caused by mutations of the IKAP gene. Am. J. Hum. Genet. 68: 753-758, 2001.
[0030340]20928.Blumenfeld, A.; Slaugenhaupt, S. A.; Axelrod, F. B.; Lucente, D. E.; Maayan, C.; Liebert, C. B.; Ozelius, L. J.; Trofatter, J. A.; Haines, J. L.; Breakefield, X. O.; Gusella, J. F.: Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis. Nature Genet. 4: 160-164, 1993.
[0030341]20929.Blumenfeld, A.; Slaugenhaupt, S. A.; Liebert, C. B.; Temper, V.; Maayan, C.; Gill, S.; Lucente, D. E.; Idelson, M.; MacCormack, K.; Monahan, M. A.; Mull, J.; Leyne, M.; Mendillo, M.; Schiripo, T.; Mishori, E.; Breakefield, X.; Axelrod, F. B.; Gusella, J. F.: Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31. Am. J. Hum. Genet. 64: 1110-1118, 1999.
[0030342]20930.Xia, F.; Taghian, D. G.; DeFrank, J. S.; Zeng, Z.-C.; Willers, H.; Iliakis, G.; Powell, S. N.: Deficiency of human BRCA2 leads to impaired homologous recombination but maintains normal nonhomologous end joining. Proc. Nat. Acad. Sci. 98: 8644-8649, 2001.
[0030343]20931.Goedert, M.; Hasegawa, J.; Craxton, M.; Leversha, M. A.; Clegg, S.: Assignment of the human stress-activated protein kinase-3 gene (SAPK3) to chromosome 22q13.3 by fluorescence in situ hybridization. Genomics 41: 501-502, 1997.
[0030344]20932.Wooster, R.; Bignell, G.; Lancaster, J.; Swift, S.; Seal, S.; Mangion, J.; Collins, N.; Gregory, S.; Gumbs, C.; Micklem, G.; Barfoot, R.; Hamoudi, R.; Patel, S.; Rice, C.; Biggs, P.; Hashim, Y.; Smith, A.; Connor, F.; Arason, A.; Gudmundsson, J.; Ficenec, D.; Keisell, D.; Ford, D.; Tonin, P.; Biship D. T.; Spurr, N. K.; Ponder, B. A. J.; Eeles, R.; Peto, J.; Devilee, P.; Cornelisse, C.; Lynch, H.; Narod, S.; Lenoir, G.; Egilsson, V.; Barkadottir, R. B.; Easton, D. F.; Bentley, D. R.; Futreal, P. A.; Ashworth, A.; Stratton, M. R.: Identification of the breast cancer susceptibility gene BRCA2. Nature 378: 789-792, 1995.
[0030345]20933.Wooster, R.; Neuhausen, S. L.; Mangion, J.; Quirk, Y.; Ford, D.; Collins, N.; Nguyen, K.; Seal, S.; Tran, T.; Averill, D.; Fields, P.; Marshall, G.; Narod, S.; Lenoir, G. M.; Lynch, H.; Feunteun, J.; Devilee, P.; Cornelisse, C. J.; Menko, F. H.; Daly, P. A.; Ormiston, W.; McManus, R.; Pye, C.; Lewis, C. M.; Cannon-Albright, L. A.; Peto, J.; Ponder, B. A. J.; Skolnick, M. H.; Easton, D. F.; Goldgar, D. E.; Stratton, M. R.: Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science 265: 2088-2090, 1994.
[0030346]20934.Yang, H.; Jeffrey, P. D.; Miller, J.; Kinnucan, E.; Sun, Y.; Thoma, N. H.; Zheng, N.; Chen, P.-L.; Lee, W.-H.; Pavletich, N. P.: BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structure. Science 297: 1837-1848, 2002.
[0030347]20935.Hartley, D. A.; Preiss, A.; Artavanis-Tsakonas, S.: A deduced gene product from the Drosophila neurogenic locus, enhancer of split, shows homology to mammalian G-protein beta subunit. Cell 55: 785-795, 1988.
[0030348]20936.Hou, E. W.; Li, S.-L.: Genomic organization and chromosome localization to band 19p13.3 of the human AES gene: gene product exhibits strong similarity to the N-terminal domain of Drosophila enhancer of split Groucho protein. DNA Cell Biol. 17: 911-913, 1998.
[0030349]20937.Miyasaka, H.; Choudhury, B. K.; Hou, E. W.; Li, S. S.-L.: Molecular cloning and expression of mouse and human cDNA encoding AES and ESG proteins with strong similarity to Drosophila enhancer of split groucho protein. Europ. J. Biochem. 216: 343-352, 1993.
[0030350]20938.Avraham, K. B.; Prezioso, V. R.; Chen, W. S.; Lai, E.; Sladek, F. M.; Zhong, W.; Darnell, J. E., Jr.; Jenkins, N. A.; Copeland, N. G.: Murine chromosomal location of four hepatocyteenriched transcription factors: HNF-3-alpha, HNF-3-beta, HNF-3-gamma, and HFN-4. Genomics 13: 264-268, 1992.
[0030351]20939.Deleuze, J. F.; Dhorne, S.; Hazan, J.; Borghi, E.; Raynaud, N.; Pollet, N.; Meunier-Rotival, M.; Deschatrette, J.; Alagille, D.; Hadchouel, M.: Deleted chromosome 20 from a patient with Alagille syndrome isolated in a cell hybrid through leucine transport selection: study of three candidate genes. Mammalian Genome 5: 663-669, 1994.
[0030352]20940.Kaestner, K. H.; Hiemisch, H.; Luckow, B.; Schutz, G.: The HNF-3 gene family of transcription factors in mice: gene structure, cDNA sequence, and mRNA distribution. Genomics 20: 377-385, 1994.
[0030353]20941.Mincheva, A.; Lichter, P.; Schutz, G.; Kaestner, K. H.: Assignment of the human genes for hepatocyte nuclear factor 3-alpha, -beta, and -gamma (HNF3A, HNF3B, HNF3G) to 14q12-q13, 20p11, and 19q13.2-q13.4. Genomics 39: 417-419, 1997.
[0030354]20942.Adams, R. H.; Porras, A.; Alonso, G.; Jones, M.; Vintersten, K.; Panelli, S.; Valladares, A.; Perez, L.; Klein, R.; Nebreda, A. R. : Essential role of p38-alpha MAP kinase in placental but not embryonic cardiovascular development. Molec. Cell 6: 109-116, 2000.
[0030355]20943.Ge, B.; Gram, H.; Di Padova, F.; Huang, B.; New, L.; Ulevitch, R. J.; Luo, Y.; Han, J.: MAPKK-independent activation of p38-alpha mediated by TAB1-dependent autophosphorylation of p38-alpha. Science 295: 1291-1294, 2002.
[0030356]20944.Han, J.; Lee, J.-D.; Bibbs, L.; Ulevitch, R. J.: A MAP kinase targeted by endotoxin and hyperosmolarity in mammalian cells. Science 265: 808-811, 1994.
[0030357]20945.Kim, D. H.; Feinbaum, R.; Alloing, G.; Emerson, F. E.; Garsin, D. A.; Inoue, H.; Tanaka-Hino, M.; Hisamoto, N.; Matsumoto, K.; Tan, M.-W.; Ausubel, F. M.: A conserved p38 MAP kinase pathway in Caenorhabditis elegans innate immunity. Science 297: 623-626, 2002.
[0030358]20946.Kumar, S.; McLaughlin, M. M.; McDonnell, P. C.; Lee, J. C.; Livi, G. P.; Young, P. R.: Human mitogen-activated protein kinase CSBP1, but not CSBP2, complements a hog1 deletion in yeast. J. Biol. Chem. 270: 29043-29046, 1995.
[0030359]20947.Lee, J. C.; Laydon, J. T.; McDonnell, P. C.; Gallagher, T. F.; Kumar, S.; Green, D.; McNulty, D.; Blumenthal, M. J.; Heys, J. R.; Landvatter, S. W.; Stickler, J. E.; McLaughlin, M. M.; Siemens, I. R.; Fisher, S. M.; Livi, G. P.; White, J. R.; Adams, J. L.; Young, P. R.: A protein kinase involved in the regulation of inflammatory cytokine biosynthesis. Nature 372: 739-746, 1994.
[0030360]20948.Liao, P.; Georgakopoulos, D.; Kovacs, A.; Zheng, M.; Lerner, D.; Pu, H.; Saffitz, J.; Chien, K.; Xiao, R.-P.; Kass, D. A.; Wang, Y. : The in vivo role of p38 MAP kinases in cardiac remodeling and restrictive cardiomyopathy. Proc. Nat. Acad. Sci. 98: 12283-12288, 2001.
[0030361]20949.Maizels, E. T.; Mukherjee, A.; Sithanandam, G.; Peters, C. A.; Cottom, J.; Mayo, K. E.; Hunzicker-Dunn, M.: Developmental regulation of mitogen-activated protein kinase-activated kinases-2 and -3 (MAPKAPK-2/-3) in vivo during corpus luteum formation in the rat. Molec. Endocr. 15: 716-733, 2001.
[0030362]20950.McDonnell, P. C.; DiLella, A. G.; Lee, J. C.; Young, P. R.: Localization of the human stress responsive MAP kinase-like CSAIDs binding protein (CSBP) gene to chromosome 6p21.3/21.2. Genomics 29: 301-302, 1995.
[0030363]20951.New, L.; Jiang, Y.; Zhao, M.; Liu, K.; Zhu, W.; Flood, L. J.; Kato, Y.; Parry, G. C. N.; Han, J.: PRAK, a novel protein kinase regulated by the p38 MAP kinase. EMBO J. 17: 3372-3384, 1998.
[0030364]20952.Ni, H.; Wang, X. S.; Diener, K.; Yao, Z.: MAPKAPK5, a novel mitogen-activate d protein kinase (MAPK)-activated protein kinase, is a substrate of the extracellular-regulated kinase (ERK) and p38 kinase. Biochem. Biophys. Res. Commun. 243: 492-496, 1998.
[0030365]20953.Takekawa, M.; Maeda, T.; Saito, H.: Protein phosphatase 2C-alpha inhibits the human stress-responsive p38 and JNK MAPK pathways. EMBO J. 17: 4744-4752, 1998.
[0030366]20954.Tamura, K.; Sudo, T.; Senftleben, U.; Dadak, A. M.; Johnson, R.; Karin, M.: Requirement for p38-alpha in erythropoietin expression: a role for stress kinases in erythropoiesis. Cell 102: 221-231, 2000.
[0030367]20955.Haber, N.; Stengel, D.; Defer, N.; Roeckel, N.; Mattei, M.-G.; Hanoune, J.: Chromosomal mapping of human adenylyl cyclase genes type III, type V and type VI. Hum. Genet. 94: 69-73, 1994.
[0030368]20956.Sinnarajah, S.; Dessauer, C. W.; Srikumar, D.; Chen, J.; Yuen, J.; Yilma, S.; Dennis, J. C.; Morrison, E. E.; Vodyanoy, V.; Kehrl, J. H.: RGS2 regulates signal transduction in olfactory neurons by attenuating activation of adenylyl cyclase III. Nature 409: 1051-1055, 2001.
[0030369]20957.Thaler, J. P.; Lee, S.-K.; Jurata, L. W.; Gill, G. N.; Pfaff, S. L.: LIM factor Lhx3 contributes to the specification of motor neuron and interneuron identity through cell-type-specific protein-protein interactions. Cell 110: 237-249, 2002.
[0030370]20958.Tebbutt, N. C.; Giraud, A. S.; Inglese, M.; Jenkins, B.; Waring, P.; Clay, F. J.; Malki, S.; Alderman, B. M.; Grail, D.; Hollande, F.; Heath, J. K.; Ernst, M.: Reciprocal regulation of gastrointestinal homeostasis by SHP2 and STAT-mediated trefoil gene activation in gp130 mutant mice. Nature Med. 8: 1089-1097, 2002.
[0030371]20959.Brown, K. A.; Leek, J. P.; Lench, N. J.; Moynihan, L. M.; Markham, A. F.; Mueller, R. F.: Human sequences homologous to the gene for the cochlear protein Ocp-II do not map to currently known non-syndromic hearing loss loci. Ann. Hum. Genet. 60: 385-389, 1996.
[0030372]20960.Chen, H.; Thalmann, I.; Adams, J. C.; Avraham, K. B.; Copeland, N. G.; Jenkins, N. A.; Beier, D. R.; Corey, D. P.; Thalmann, R.; Duyk, G. M.: cDNA cloning, tissue distribution, and chromosomal localization of Ocp2, a gene encoding a putative transcription-associated factor predominantly expressed in the auditory organs. Genomics 27: 389-398, 1995.
[0030373]20961.Demetrick, D. J.; Zhang, H.; Beach, D. H.: Chromosomal mapping of the genes for the human CDK2/cyclin A-associated proteins p19 (SKP1A and SKP1B) and p45 (SKP2). Cytogenet. Cell Genet. 73: 104-107, 1996.
[0030374]20962.Liang, Y.; Chen, H.; Asher, J. H., Jr.; Chang, C.-C.; Friedman, T. B.: Human inner ear OCP2 cDNA maps to 5q22-5q35.2 with related sequences on chromosomes 4p16.2-4p14, 5p13-5q22, 7pter-q22, 10 and 12p13-12qter. Gene 184: 163-167, 1997.
[0030375]20963.Sowden, J.; Morrison, K.; Schofield, J.; Putt, W.; Edwards, Y. : A novel cDNA with homology to an RNA polymerase II elongation factors maps to human chromosome 5q31 (TCEB1L) and to mouse chromosome 11 (Tceb1l). Genomics 29: 145-151, 1995.
[0030376]20964.Thalmann, I.; Rosenthal, H. L.; Moore, B. W.; Thalmann, R.: Organ of Corti-specific polypeptides: OCP-I and OCP-II. Arch. Oto-Rhino-Laryngol. 226: 123-128, 1980.
[0030377]20965.Thalmann, I.; Takahashi, K.; Varghese, J.; Comegys, T. H.; Thalmann, R.: Biochemical features of major organ of Corti proteins (OCP-I and OCP-II) including partial amino acid sequence. Laryngoscope 100: 99-105, 1990.
[0030378]20966.Zhang, H.; Kobayashi, R.; Galaktionov, K.; Beach, D.: p19Skp1 and p45Skp2 are essential elements of the cyclin A-CDK2 S phase kinase. Cell 82: 915-925, 1995.
[0030379]20967.FitzPatrick, D. R.; Germain-Lee, E.; Valle, D.: Isolation and characterization of rat and human cDNAs encoding a novel putative peroxisomal enoyl-CoA hydratase. Genomics 27: 457-466, 1995.
[0030380]20968.Saijo, M.; Sakai, Y.; Kishino, T.; Niikawa, N.; Matsuura, Y.; Morino, K.; Tamai, K.; Taya, Y.: Molecular cloning of a human protein that binds to the retinoblastoma protein and chromosomal mapping. Genomics 27: 511-519, 1995.
[0030381]20969.Anand, A.; Chada, K.: In vivo modulation of Hmgic reduces obesity. Nature Genet. 24: 377-380, 2000.
[0030382]20970.Arlotta, P.; Tai, A. K.-F.; Manfioletti, G.; Clifford, C.; Jay, G.; Ono, S. J.: Transgenic mice expressing a truncated form of the high mobility group I-C protein develop adiposity and an abnormally high prevalence of lipomas. J. Biol. Chem. 275: 14394-14400, 2000.
[0030383]20971.Ashar, H. R.; Cherath, L.; Przybysz, K. M.; Chada, K.: Genomic characterization of human HMGIC, a member of the accessory transcription factor family found at translocation breakpoints in lipomas. Genomics 31: 207-214, 1996.
[0030384]20972.Ashar, H. R.; Schoenberg Fejzo, M.; Tkachenko, A.; Zhou, X.; Fletcher, J. A.; Weremowicz, S.; Morton, C. C.; Chada, K.: Disruption of the architectural factor HMGI-C: DNA-binding AT hook motifs fused in lipomas to distinct transcriptional regulatory domains. Cell 82: 57-65, 1995.
[0030385]20973.Chau, K.-Y.; Patel, U. A.; Lee, K.-L. D.; Lam, H.-Y. P.; Crane-Robinson, C.: The gene for the human architectural transcription factor HMGI-C consists of five exons each coding for a distinct functional element. Nucleic Acids Res. 23: 4262-4266, 1995.
[0030386]20974.Danforth, E., Jr.: Failure of adipocyte differentiation causes type II diabetes mellitus. Nature Genet. 26: 13 only, 2000.
[0030387]20975.Friedmann, M.; Holth, L. T.; Zoghbi, H. Y.; Reeves, R.: Organization, inducibleexpression and chromosome localization of the human HMG-I(Y) nonhistone protein gene. Nucleic Acids Res. 21: 4259-4267, 1993.
[0030388]20976.Ishwad, C. S.; Shriver, M. D.; Lassige, D. M.; Ferrell, R. E.: The high mobility group IC gene (HMGI-C): polymorphism and genetic localization. Hum. Genet. 99: 103-105, 1997.
[0030389]20977.Kazmierczak, B.; Dal Cin, P.; Wanschura, S.; Bartnitzke, S.; Van den Berghe, H.; Bullerdiek, J.: Cloning and molecular characterization of part of a new gene fused to HMGIC in mesenchymal tumors. Am. J. Path. 152: 431-435, 1998.
[0030390]20978.Kazmierczak, B.; Pohnke, Y.; Bullerdiek, J.: Fusion transcripts between the HMGIC gene and RTVL-H-related sequences in mesenchymal tumors without cytogenetic aberrations. Genomics 38: 223-226, 1996.
[0030391]20979.Manfioletti, G.; Rustighi, A.; Mantovani, F.; Goodwin, G. H.; Giancotti, V.: Isolation and characterization of the gene coding for murine high-mobility-group protein HMGI-C. Gene 167: 249-253, 1995.
[0030392]20980.Mine, N.; Kurose, K.; Nagai, H.; Doi, D.; Ota, Y.; Yoneyama, K.; Konishi, H.; Araki, T.; Emi, M.: Gene fusion involving HMGIC is a frequent aberration in uterine leiomyomas. J. Hum. Genet. 46: 408-412, 2001.
[0030393]20981.Nucci, M. R.; Weremowicz, S.; Neskey, D. M.; Sornberger, K.; Tallini, G.; Morton, C. C.; Quade, B. J.: Chromosomal translocation t(8;12) induces aberrant HMGIC expression in aggressive angiomyxoma of the vulva. Genes Chromosomes Cancer 32: 172-176, 2001.
[0030394]20982.Oka, J.; Matsumoto, A.; Hosokawa, Y.; Inoue, S.: Molecular cloning of human cytosolic purine 5-prime-nucleotidase. Biochem. Biophys. Res. Commun. 205: 917-922, 1994.
[0030395]20983.Kingsmore, S. F.; Suh, D.; Seldin, M. F.: Genetic mapping of the glycine receptor alpha-3 subunit on mouse chromosome 8. Mammalian Genome 5: 831-832, 1994.
[0030396]20984.Kuhse, J.; Schmieden, V.; Betz, H.: Identification and functional expression of a novel ligand binding subunit of the inhibitory glycine receptor. J. Biol. Chem. 265: 22317-22320, 1990.
[0030397]20985.Nikolic, Z.; Laube, B.; Weber, R. G.; Lichter, P.; Kioschis, P.; Poustka, A.; Mulhardt, C.; Becker, C.-M.: The human glycine receptor subunit alpha-3: GLRA3 gene structure, chromosomal localization, and functional characterization of alternative transcripts. J. Biol. Chem. 273: 19708-19714, 1998.
[0030398]20986.Way, J. C.; Chalfie, M.: mec-3, a homeobox-containing gene that specifies differentiation of the touch receptor neurons in C. elegans. Cell 54: 5-16, 1988.
[0030399]20987.Zhadanov, A. B.; Bertuzzi, S.; Taira, M.; Dawid, I. B.; Westphal, H.: Expression pattern of the murine LIM class homeobox gene Lhx3 in subsets of neural and neuroendocrine tissues. Dev. Dyn. 202: 354-364, 1995.
[0030400]20988.Zhadanov, A. B.; Copeland, N. G.; Gilbert, D. J.; Jenkins, N. A.; Westphal, H.: Genomic structure and chromosomal localization of the mouse LIM/homeobox gene Lhx3. Genomics 27: 27-32, 1995.
[0030401]20989.Seimiya, H.; Sawabe, T.; Inazawa, J.; Tsuruo, T.: Cloning, expression and chromosomal localization of a novel gene for protein tyrosine phosphatase (PTP-U2) induced by various differentiation-inducing agents. Oncogene 10: 1731-1738, 1995.
[0030402]20990.Wiggins, R. C.; Wiggins, J. E.; Goyal, M.; Wharram, B. L.; Thomas, P. E.: Molecular cloning of cDNAs encoding human GLEPP1, a membrane protein tyrosine phosphatase: characterization of the GLEPP1 protein distribution in human kidney and assignment of the GLEPP1 gene to human chromosome 12p12-p13. Genomics 27: 174-181, 1995.
[0030403]20991.Jia, S.; VanDusen, W. J.; Diehl, R. E.; Kohl, N. E.; Dixon, R. A. F.; Elliston, K. O.; Stern, A. M.; Friedman, P. A.: cDNA cloning and expression of bovine aspartyl (asparaginyl) betahydroxylase. J. Biol. Chem. 267: 14322-14327, 1992.
[0030404]20992.Korioth, F.; Gieffers, C.; Frey, J.: Cloning and characterization of the human gene encoding aspartyl beta-hydroxylase. Gene 150: 395-399, 1994.
[0030405]20993.Lavaissiere, L.; Jia, S.; Nishiyama, M.; de la Monte, S.; Stern, A. M.; Wands, J. R.; Friedman, P. A.: Overexpression of human aspartyl(asparaginyl)-beta-hydroxylase in hepatocellular carcinoma and cholangiocarcinoma. J. Clin. Invest. 98: 1313-1323, 1996.
[0030406]20994.Lim, K. Y.; Hong, C.-S.; Kim, D. H.: cDNA cloning and characterization of human cardiac junctin. Gene 255: 35-42, 2000.
[0030407]20995.Scott, A. F.: Personal Communication. Baltimore, Md. 2/19/2001.
[0030408]20996.Treves, S.; Feriotto, G.; Moccagatta, L.; Gambari, R.; Zorzato, F.: Molecular cloning, expression, functional characterization, chromosomal localization, and gene structure of junctate, a novel integral calcium binding protein of sarco(endo)plasmic reticulum membrane. J. Biol. Chem. 275: 39555-39568, 2000.
[0030409]20997.Wetzel, G. T.; Ding, S.; Chen, F.: Molecular cloning of junctin from human and developing rabbit heart. Molec. Genet. Metab. 69: 252-258, 2000.
[0030410]20998.Sato, K.; Mano, H.; Ariyama, T.; Inazawa, J.; Yazaki, Y.; Hirai, H.: Molecular cloning and analysis of the human Tec protein-tyrosine kinase. Leukemia 8: 1663-1672, 1994.
[0030411]20999.Zhou, P.; Sun, L. J.; Dotsch, V.; Wagner, G.; Verdine, G. L.: Solution structure of the core NFATC1/DNA complex. Cell 92: 687-696, 1998.
[0030412]21000.McCaffrey, P. G.; Luo, C.; Kerppola, T. K.; Jain, J.; Badalian, T. M.; Ho, A. M.; Burgeon, E.; Lane, W. S.; Lambert, J. N.; Curran, T.; Verdine, G. L.; Rao, A.; Hogan, P. G.: Isolation of the cyclosporin-sensitive T cell transcription factor NFATp. Science 262: 750-754, 1993.
[0030413]21001.Rengarajan, J.; Tang, B.; Glimcher, L. H.: NFATc2 and NFATc3 regulate TH2 differentiation and modulate TCR-responsiveness of naive TH cells. Nature Immun. 3: 48-54, 2002.
[0030414]21002.Abrams, W. R.; Ma, R.-I.; Kucich, U.; Bashir, M. M.; Decker, S.; Tsipouras, P.; McPherson, J. D.; Wasmuth, J. J.; Rosenbloom, J.: Molecular cloning of the microfibrillar protein MFAP3 and assignment of the gene to human chromosome 5q32-q33.2. Genomics 26: 47-54, 1995.
[0030415]21003.Atanasoski, S.; Toldo, S. S.; Malipiero, U.; Schreiber, E.; Fries, R.; Fontana, A.: Isolation of the human genomic brain-2/N-Oct 3 gene (POUF3) and assignment to chromosome 6q16. Genomics 26: 272-280, 1995.
[0030416]21004.Schreiber, E.; Tobler, A.; Malipiero, U.; Schaffner, W.; Fontana, A.: cDNA cloning of human N-Oct 3, a nervous-system specific POU domain transcription factor binding to the octamer DNA motif. Nucleic Acids Res. 21: 253-258, 1993.
[0030417]21005.Xia, Y.-R.; Andersen, B.; Mehrabian, M.; Diep, A. T.; Warden, C. H.; Mohandas, T.; McEvilly, R. J.; Rosenfeld, M. G.; Lusis, A. J. : Chromosomal organization of mammalian POU domain factors. Genomics 18: 126-130, 1993.
[0030418]21006.Brass, N.; Heckel, D.; Sahin, U.; Pfreundschuh, M.; Sybrecht, G. W.; Meese, E.: Translation initiation factor eIF-4gamma is encoded by an amplified gene and induces an immune response in squamous cell lung carcinoma. Hum. Molec. Genet. 6: 33-39, 1997.
[0030419]21007.Gradi, A.; Imataka, H.; Svitkin, Y. V.; Rom, E.; Raught, B.; Morino, S.; Sonenberg, N.: A novel functional human eukaryotic translation initiation factor 4G. Molec. Cell. Biol. 18: 334-342, 1998.
[0030420]21008.Imataka, H.; Gradi, A.; Sonenberg, N.: A newly identified N-terminal amino acid sequence of human eIF4G binds poly(A)-binding protein and functions in poly(A)-dependent translation. EMBO J. 17: 7480-7489, 1998.
[0030421]21009.Imataka, H.; Sonenberg, N.: Human eukaryotic translation initiation factor 4G (eIF4G) possesses two separate and independent binding sites for eIF4A. Molec. Cell. Biol. 17: 6940-6947, 1997.
[0030422]21010.Yan, R.; Rhoads, R. E.: Human protein synthesis initiation factor eIF-4-gamma is encoded by a single gene (EIF4G) that maps to chromosome 3q27-qter. Genomics 26: 394-398, 1995.
[0030423]21011.Yan, R.; Rychlik, W.; Etchison, D.; Rhoads, R. E.: Amino acid sequence of the human protein synthesis initiation factor eIF-4-gamma. J. Biol. Chem. 267: 23226-23231, 1992.
[0030424]21012.Corrigall, A. V.; Hift, R. J.; Hancock, V.; Meissner, D.; Davids, L.; Kirsch, R. E.; Meissner, P. N.: Identification and characterisation of a deletion (537delAT) in the protoporphyrinogen oxidase gene in a South African variegate porphyria family. Hum. Mutat. 12: 403-407, 1998.
[0030425]21013.Aso, T.; Lane, W. S.; Conaway, J. W.; Conaway, R. C.: Elongin (SIII): a multisubunit regulator of elongation by RNA polymerase II. Science 269: 1439-1443, 1995.
[0030426]21014.Baldwin, C. T.; Weiss, S.; Farrer, L.; De Stefano, A.; Adair, R.; Franklyn, B.; Kidd, K. K.; Korostishevsky, M.; Bonne-Tamir, B.: Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population. Hum. Molec. Genet. 4: 1637-1642, 1995.
[0030427]21015.Li, X. C.; Everett, L. A.; Lalwani, A. K.; Desmukh, D.; Friedman, T. B.; Green, E. D.; Wilcox, E. R.: A mutation in PDS causes non-syndromic recessive deafness. (Letter) Nature Genet. 18: 215-217, 1998.
[0030428]21016.Boon, L. M.; Mulliken, J. B.; Vikkula, M.; Watkins, H.; Seidman, J.; Olsen, B. R.; Warman, M. L.: Assignment of a locus for dominantly inherited venous malformations to chromosome 9p. Hum. Molec. Genet. 3: 1583-1587, 1994.
[0030429]21017.Calvert, J. T.; Riney, T. J.; Kontos, C. D.; Cha, E. H.; Prieto, V. G.; Shea, C. R.; Berg, J. N.; Nevin, N. C.; Simpson, S. A.; Pasyk, K. A.; Speer, M. C.; Peters, K. G.; Marchuk, D. A.: Allelic and locus heterogeneity in inherited venous malformations. Hum. Molec. Genet. 8: 1279-1289, 1999.
[0030430]21018.Vikkula, M.; Boon, L. M.; Carraway, K. L., III; Calvert, J. T.; Diamonti, A. J.; Goumnerov, B.; Pasyk, K. A.; Marchuk, D. A.; Warman, M. L.; Cantley, L. C.; Mulliken, J. B.; Olsen, B. R.: Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2. Cell 87: 1181-1190, 1996.
[0030431]21019.Iwata, T.; Kogame, K.; Toki, T.; Yokoyama, M.; Yamamoto, M.; Ito, E.: Structure and chromosome mapping of the human small maf genes MAFG and MAFK. Cytogenet. Cell Genet. 82: 88-90, 1998.
[0030432]21020.Motohashi, H.; Katsuoka, F.; Shavit, J. A.; Engel, J. D.; Yamamoto, M.: Positive or negative MARE-dependent transcriptional regulation is determined by the abundance of small Maf proteins. Cell 103: 865-875, 2000.
[0030433]21021.Peters, L. L.; Eicher, E. M.: The ubiquitous subunit of the globin enhancer-binding protein NF-E2 (Nfe2u) maps to mouse chromosome 5. Genomics 22: 490-491, 1994.
[0030434]21022.Shavit, J. A.; Motohashi, H.; Onodera, K.; Akasaka, J.; Yamamoto, M.; Engel, J. D.: Impaired megakaryopoiesis and behavioral defects in mafG-null mutant mice. Genes Dev. 12: 2164-2174, 1998.
[0030435]21023.Toki, T.; Itoh, J.; Kitazawa, J.; Arai, K.; Hatakeyama, K.; Akasaka, J.; Igarashi, K.; Nomura, N.; Yokoyama, M.; Yamamoto, M.; Ito, E. : Human small Maf proteins form heterodimers with CNC family transcription factors and recognize the NF-E2 motif. Oncogene 14: 1901-1910, 1997.
[0030436]21024.Yang, B.; He, B.; Abdel-Halim, S. M.; Tibell, A.; Brendel, M. D.; Bretzel, R. G.; Efendic, S.; Hillert, J.: Molecular cloning of a full-length cDNA for human type 3 adenylyl cyclase and its expression in human islets. Biochem. Biophys. Res. Commun. 254: 548-551, 1999.
[0030437]21025.Chawengsaksophak, K.; James, R.; Hammond, V. E.; Kontgen, F.; Beck, F.: Homeosis and intestinal tumours in Cdx2 mutant mice. Nature 386: 84-87, 1997.
[0030438]21026.Drummond, F.; Putt, W.; Fox, M.; Edwards, Y. H.: Cloning and chromosome assignment of the human CDX2 gene. Ann. Hum. Genet. 61: 393-400, 1997.
[0030439]21027.German, M. S.; Wang, J.; Fernald, A. A.; Espinosa, R., III; Le Beau, M. M.; Bell, G. I.: Localization of the genes encoding two transcription factors, LMX1 and CDX3, regulating insulin gene expression to human chromosomes 1 and 13. Genomics 24: 403-404, 1994.
[0030440]21028.Woodford-Richens, K. L.; Halford, S.; Rowan, A.; Bevan, S.; Aaltonen, L. A.; Wasan, H.; Bicknell, D.; Bodmer, W. F.; Houlston, R. S.; Tomlinson, I. P. M.: CDX2 mutations do not account for juvenile polyposis or Peutz-Jeghers syndrome and occur infrequently in sporadic colorectal cancers. Brit. J. Cancer 84: 1314-1316, 2001.
[0030441]21029.Hiroi, Y.; Kudoh, S.; Monzen, K.; Ikeda, Y.; Yazaki, Y.; Nagai, R.; Komuro, I.: Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation. Nature Genet. 28: 276-280, 2001.
[0030442]21030.Dubbink, H. J.; Verkaik, N. S.; Faber, P. W.; Trapman, J.; Schroder, F. H.; Romijn, J. C.: Tissue-specific and androgen-regulated expression of human prostate-specific transglutaminase. Biochem. J. 315: 901-908, 1996.
[0030443]21031.Gentile, V.; Grant, F. J.; Porta, R.; Baldini, A.: Localization of the human prostate transglutaminase (type IV) gene (TGM4) to chromosome 3p21.33-p22 by fluorescence in situ hybridization. Genomics 27: 219-220, 1995.
[0030444]21032.Grant, F. J.; Taylor, D. A.; Sheppard, P. O.; Mathewes, S. L.; Lint, W.; Vanaja, E.; Bishop, P. D.; O'Hara, P. J.: Molecular cloning and characterization of a novel transglutaminase cDNA from a human prostate cDNA library. Biochem. Biophys. Res. Commun. 203: 1117-1123, 1994.
[0030445]21033.Takai, S.; Long, J. E.; Yamada, K.; Miki, T.: Chromosomal localization of the human ECT2 proto-oncogene to 3q26.1-q26.2 by somatic cell analysis and fluorescence in situ hybridization. Genomics 27: 220-222, 1995.
[0030446]21034.Takai, S.; Lorenzi, M. V.; Long, J. E.; Yamada, K.; Miki, T.: Assignment of the Ect2 protooncogene to mouse chromosome band 3B by in situ hybridization. Cytogenet. Cell Genet. 81: 83-84, 1998.
[0030447]21035.Barker, H. M.; Brewis, N. D.; Street, A. J.; Spurr, N. K.; Cohen, P. T. W.: Three genes for protein phosphatase 1 map to different human chromosomes: sequence, expression and gene localisation of protein serine/threonine phosphatase 1 beta (PPP1CB). Biochim. Biophys. Acta 1220: 212-218, 1994.
[0030448]21036.Saadat, M.; Kakinoki, Y.; Mizuno, Y.; Kikuchi, K.; Yoshida, M. C.: Chromosomal localization of human, rat, and mouse protein phosphatase type 1 beta catalytic subunit genes (PPP1CB) by fluorescence in situ hybridization. Jpn. J. Genet. 69: 697-700, 1994.
[0030449]21037.Padilla, C. A.; Bajalica, S.; Lagercrantz, J.; Holmgren, A.: The gene for human glutaredoxin (GLRX) is localized to human chromosome 5q14. Genomics 32: 455-457, 1996.
[0030450]21038.Padilla, C. A.; Martinez-Galisteo, E.; Barcena, J. A.; Spyrou, G.; Holmgren, A.: Purification from placenta, amino acid sequence, structure comparisons and cDNA cloning of human glutaredoxin. Europ. J. Biochem. 227: 27-34, 1995.
[0030451]21039.Raghavachari, N.; Krysan, K.; Xing K.; Lou, M. F.: Regulation of thioltransferase expression in human lens epithelial cells. Invest. Ophthal. Vis. Sci. 42: 1002-1008, 2001.
[0030452]21040.Liang, B. T.; Jacobson, K. A.: A physiological role of the adenosine A3 receptor: sustained cardioprotection. Proc. Nat. Acad. Sci. 95: 6995-6999, 1998.
[0030453]21041.Monitto, C. L.; Levitt, R. C.; DiSilvestre, D.; Holroyd, K. J. : Localization of the A(3) adenosine receptor gene (ADORA3) to human chromosome 1p. Genomics 26: 637-638, 1995.
[0030454]21042.Sajjadi, F. G.; Firestein, G. S.: cDNA cloning and sequence analysis of the human A3 adenosine receptor. Biochim. Biophys. Acta 1179: 105-107, 1993.
[0030455]21043.Zhao, Z.; Ravid, S.; Ravid, K.: Chromosomal mapping of the mouse A3 adenosine receptor gene, Adora3. Genomics 30: 118-119, 1995.
[0030456]21044.Zhou, Q.-Y.; Li, C.; Olah, M. E.; Johnson, R. A.; Stiles, G. L.; Civelli, O.: Molecular cloning and characterization of an adenosine receptor: the A3 adenosine receptor. Proc. Nat. Acad. Sci. 89: 7432-7436, 1992.
[0030457]21045.Corset, V.; Nguyen-Ba-Charvet, K. T.; Forcet, C.; Moyse, E.; Chedotal, A.; Mehlen, P.: Netrin-1-mediated axon outgrowth and cAMP production requires interaction with adenosine A2b receptor. Nature 407: 747-750, 2000.
[0030458]21046.Mino, R. P.; Spoerri, P. E.; Caballero, S.; Player, D.; Belardinelli, L.; Biaggioni, I.; Grant, M. B.: Adenosine receptor antagonists and retinal neovascularization in vivo. Invest. Ophthal. Vis. Sci. 42: 3320-3324, 2001.
[0030459]21047.Stein, E.; Zou, Y.; Poo, M.; Tessier-Lavigne, M.: Binding of DCC by netrin-1 to mediate axon guidance independent of adenosine A2B receptor activation. Science 291: 1976-1982, 2001.
[0030460]21048.Townsend-Nicholson, A.; Baker, E.; Sutherland, G. R.; Schofield, P. R.: Localization of the adenosine A2b receptor subtype gene (ADORA2B) to chromosome 17p11.2-p12 by FISH and PCR screening of somatic cell hybrids. Genomics 25: 605-607, 1995.
[0030461]21049.von Gall, C.; Garabette, M. L.; Kell, C. A.; Frenzel, S.; Dehghani, F.; Schumm-Draeger, P.-M.; Weaver, D. R.; Korf, H.-W.; Hastings, M. H.; Stehle, J. H.: Rhythmic gene expression in pituitary depends on heterologous sensitization by the neurohormone melatonin. Nature Neurosci. 5: 234-238, 2002.
[0030462]21050.Hirai, S.; Izawa, M.; Osada, S.; Spyrou, G.; Ohno, S.: Activation of the JNK pathway by distantly related protein kinases, MEKK and MUK. Oncogene 12: 641-650, 1996.
[0030463]21051.Holzman, L. B.; Merritt, S. E.; Fan, G.: Identification, molecular cloning, and characterization of dual leucine zipper bearing kinase. A novel serine/threonine protein kinase that defines a second subfamily of mixed lineage kinases. J. Biol. Chem. 269: 30808-30817, 1994.
[0030464]21052.Mata, M.; Merritt, S. E.; Fan, G.; Yu, G. G.; Holzman, L. B.: Characterization of dual leucine zipper-bearing kinase, a mixed lineage kinase present in synaptic terminals whose phosphorylation state is regulated by membrane depolarization via calcineurin. J. Biol. Chem. 271: 16888-16896, 1996.
[0030465]21053.Reddy, U. R.; Nycum, L.; Slavc, I.; Biegel, J. A.: Localization of the human zipper protein kinase gene (ZPK) to chromosome 12q13 by fluorescence in situ hybridization and somatic cell hybrid analysis. Genomics 25: 597-598, 1995.
[0030466]21054.Reddy, U. R.; Pleasure, D.: Cloning of a novel putative protein kinase having a leucine zipper domain from human brain. Biochem. Biophys. Res. Commun. 202: 613-620, 1994.
[0030467]21055.Becq, F.; Hamon, Y.; Bajetto, A.; Gola, M.; Verrier, B.; Chimini, G.: ABC1, an ATP binding cassette transporter required for phagocytosis of apoptotic cells, generates a regulated anion flux after expression in Xenopus laevis oocytes. J. Biol. Chem. 272: 2695-2699, 1997.
[0030468]21056.Decottignies, A.; Goffeau, A.: Complete inventory of the yeast ABC proteins. Nature Genet. 15: 137-145, 1997.
[0030469]21057.Guo, Z.; Inazu, A.; Yu, W.; Suzumura, T.; Okamoto, M.; Nohara, A.; Higashikata, T.; Sano, R.; Wakasugi, K.; Hayakawa, T.; Yoshida, K.; Suehiro, T.; Schmitz, G.; Mabuchi, H.: Double deletions and missense mutations in the first nucleotide-binding fold of the ATP-binding cassette transporter A1 (ABCA1) gene in Japanese patients with Tangier disease. J. Hum. Genet. 47: 325-329, 2002.
[0030470]21058.Hong, S. H.; Rhyne, J.; Zeller, K.; Miller, M.: Novel ABCA1 compound variant associated with HDL cholesterol deficiency. Biochim. Biophys. Acta 1587: 60-64, 2002.
[0030471]21059.Huang, W.; Moriyama, K.; Koga, T.; Hua, H.; Ageta, M.; Kawabata, S.; Mawatari, K.; Imamura, T.; Eto, T.; Kawamura, M.; Teramoto, T.; Sasaki, J.: Novel mutations in ABCA1 gene in Japanese patients with Tangier disease and familial high density lipoprotein deficiency with coronary heart disease. Biochim. Biophys. Acta 1537: 71-78, 2001.
[0030472]21060.Ishii, J.; Nagano, M.; Kujiraoka, T.; Ishihara, M.; Egashira, T.; Takada, D.; Tsuji, M.; Hattori, H.; Emi, M.: Clinical variant of Tangier disease in Japan: mutation of the ABCA1 gene in hypoalphalipoproteinemia with corneal lipidosis. J. Hum. Genet. 47: 366-369, 2002.
[0030473]21061.Jennings, M. W.; Jones, R. W.; Wood, W. G.; Weatherall, D. J. : Analysis of an inversion within the human beta globin gene cluster. Nucleic Acids Res. 13: 2897-2906, 1985.
[0030474]21062.Kulozik, A. E.; Bellan-Koch, A.; Kohne, E.; Kleihauer, E.: A deletion/inversion rearrangement of the beta-globin gene cluster in a Turkish family with delta-beta(0)-thalassemia intermedia. Blood 79: 2455-2459, 1992.
[0030475]21063.Langmann, T.; Klucken, J.; Reil, M.; Liebisch, G.; Luciani, M.-F.; Chimini, G.; Kaminski, W. E.; Schmitz, G.: Molecular cloning of the human ATP-binding cassette transporter 1 (hABC1): evidence for sterol-dependent regulation in macrophages. Biochem. Biophys. Res. Commun. 257: 29-33, 1999.
[0030476]21064.Lawn, R. M.; Wade, D. P.; Garvin, M. R.; Wang, X.; Schwartz, K.; Porter, J. G.; Seilhamer, J. J.; Vaughan, A. M.; Oram, J. F.: The Tangier disease gene product ABC1 controls the cellular apolipoprotein-mediated lipid removal pathway. J. Clin. Invest. 104: R25-R31, 1999.
[0030477]21065.Luciani, M. F.; Denizot, F.; Savary, S.; Mattei, M. G.; Chimini, G.: Cloning of two novel ABC transporters mapping on human chromosome 9. Genomics 21: 150-159, 1994.
[0030478]21066.Lapicka-Bodzioch, K.; Bodzioch, M.; Krull, M.; Kielar, D.; Probst, M.; Kiec, B.; Andrikovics, H.; Bottcher, A.; Hubacek, J.; Aslanidis, C.; Suttorp, N.; Schmitz, G.: Homogeneous assay based on 52 primer sets to scan for mutations of the ABCA1 gene and its application in genetic analysis of a new patient with familial high-density lipoprotein deficiency syndrome. Biochim. Biophys. Acta 1537: 42-48, 2001.
[0030479]21067.Marcil, M.; Boucher, B.; Krimbou, L.; Solymoss, B. C.; Davignon, J.; Frohlich, J.; Genest, J., Jr.: Severe familial HDL deficiency in French-Canadian kindreds: clinical, biochemical, and molecular characterization. Arterioscler. Thromb. Vasc. Biol. 15: 1015-1024, 1995.
[0030480]21068.Marcil, M.; Yu, L.; Krimbou, L.; Boucher, B.; Oram, J. F.; Cohn, J. S.; Genest, J., Jr.: Cellular cholesterol transport and efflux in fibroblasts are abnormal in subjects with familial HDL deficiency. Arterioscler. Thromb. Vasc. Biol. 19: 159-169, 1999.
[0030481]21069.McNeish, J.; Aiello, R. J.; Guyot, D.; Turi, T.; Gabel, C.; Aldinger, C.; Hoppe, K. L.; Roach, M. L.; Royer, L. J.; de Wet, J.; Broccardo, C.; Chimini, G.; Francone, O. L.: High density lipoprotein deficiency and foam cell accumulation in mice with targeted disruption of ATP-binding cassette transporter-1. Proc. Nat. Acad. Sci. 97: 4245-4250, 2000.
[0030482]21070.Pullinger, C. R.; Hakamata, H.; Duchateau, P. N.; Eng, C.; Aouizerat, B. E.; Cho, M. H.; Fielding, C. J.; Kane, J. P.: Analysis of hABC1 gene 5-prime end: additional peptide sequence, promoter region, and four polymorphisms. Biochem. Biophys. Res. Commun. 271: 451-455, 2000.
[0030483]21071.Petit, M. M. R.; Schoenmakers, E. F. P. M.; Huysmans, C.; Geurts, J. M. W.; Mandahl, N.; Van de Ven, W. J. M.: LHFP, a novel translocation partner gene of HMGIC in a lipoma, is a member of a new family of LHFP-like genes. Genomics 57: 438-441, 1999.
[0030484]21072.Nishita, Y.; Yoshida, I.; Sado, T.; Takagi, N.: Genomic imprinting and chromosomal localization of the human MEST gene. Genomics 36: 539-542, 1996.
[0030485]21073.Kohen, R.; Metcalf, M. A.; Khan, N.; Druck, T.; Huebner, K.; Lachowicz, J. E.; Meltzer, H. Y.; Sibley, D. R.; Roth, B. L.; Hamblin, M. W. : Cloning, characterization, and chromosomal localization of a human 5-HT-6 serotonin receptor. J. Neurochem. 66: 47-56, 1996.
[0030486]21074.Pearce, S. H. S.; Williamson, C.; Kifor, O.; Bai, M.; Coulthard, M. G.; Davies, M.; Lewis-Barned, N.; McCredie, D.; Powell, H.; Kendall-Taylor, P.; Brown, E. M.; Thakker, R. V.: A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor. New Eng. J. Med. 335: 1115-1122, 1996.
[0030487]21075.Frank, J.; Aita, V. M.; Ahmad, W.; Lam, H.; Wolff, C.; Christiano, A. M.: Identification of a founder mutation in the protoporphyrinogen oxidase gene in variegate porphyria patients from Chile. Hum. Hered. 51: 160-168, 2001.
[0030488]21076.Frank, J.; Jugert, F. K.; Breitkopf, C.; Goerz, G.; Merk, H. F.; Christiano, A. M.: Recurrent missense mutation in the protoporphyrinogen oxidase gene underlies variegate porphyria. Am. J. Med. Genet. 79: 22-26, 1998.
[0030489]21077.Orso, E.; Broccardo, C.; Kaminski, W. E.; Bottcher, A.; Liebisch, G.; Drobnik, W.; Gotz, A.; Chambenoit, O.; Diederich, W.; Langmann, T.; Spruss, T.; Luciani, M.-F.; Rothe, G.; Lackner, K. J.; Chimini, G.; Schmitz, G.: Transport of lipids from Golgi to plasma membrane is defective in Tangier disease patients and Abc1-deficient mice. Nature Genet. 24: 192-196, 2000.
[0030490]21078.Hift, R. J.; Meissner, P. N.; Corrigall, A. V.; Ziman, M. R.; Petersen, L. A.; Meissner, D. M.; Davidson, B. P.; Sutherland, J.; Dailey, H. A.; Kirsch, R. E.: Variegate porphyria in South Africa, 1688-1996: new developments in an old disease. S. Afr. Med. J. 87: 722-731, 1997.
[0030491]21079.Hift, R. J.; Meissner, P. N.; Todd, G.; Kirby, P.; Bilsland, D.; Collins, P.; Ferguson, J.; Moore, M. R.: Homozygous variegate porphyria: an evolving clinical syndrome. Postgrad. Med. J. 69: 781-786, 1993.
[0030492]21080.Lam, H.; Dragan, L.; Tsou, H. C.; Merk, H.; Peacocke, M.; Goerz, G.; Sassa, S.; Poh-Fitzpatrick, M.; Bickers, D. R.; Christiano, A. M.: Molecular basis of variegate porphyria: a de novo insertion mutation in the protoporphyrinogen oxidase gene. Hum. Genet. 99: 126-129, 1997.
[0030493]21081.Puy, H.; Robreau, A.-M.; Rosipal, R.; Nordmann, Y.; Deybach, J.-C. : Protoporphyrinogen oxidase: complete genomic sequence and polymorphisms in the human gene. Biochem. Biophys. Res. Comm. 226: 226-230, 1996.
[0030494]21082.Roberts, A. G.; Puy, H.; Dailey, T. A.; Morgan, R. R.; Whatley, S. D.; Dailey, H. A.; Martasek, P.; Nordmann, Y.; Deybach, J.-C.; Elder, G. H.: Molecular characterization of homozygous variegate porphyria. Hum. Molec. Genet. 7: 1921-1925, 1998.
[0030495]21083.Francavilla, A.; Hagiya, M.; Porter, K. A.; Polimeno, L.; Ihara, I.; Starzl, T. E.: Augmenter of liver regeneration: its place in the universe of hepatic growth factors. Hepatology 20: 747-757, 1994.
[0030496]21084.Giorda, R.; Hagiya, M.; Seki, T.; Shimonishi, M.; Sakai, H.; Michaelson, J.; Francavilla, A.; Starzl, T. E.; Trucco, M.: Analysis of the structure and expression of the augmenter of liver regeneration (ALR) gene. Molec. Med. 2: 97-108, 1996.
[0030497]21085.Hagiya, M.; Francavilla, A.; Polimeno, L.; Ihara, I.; Sakai, H.; Seki, T.; Shimonishi, M.; Porter, K. A.; Starzl, T. E.: Cloning and sequence analysis of the rat augmenter of liver regeneration (ALR) gene: expression of biologically active recombinant ALR and demonstration of tissue distribution. Proc. Nat. Acad. Sci. 91: 8142-8146, 1994. Note: Erratum Proc. Nat. Acad. Sci. 92, p. 3076 only, 1995.
[0030498]21086.Lisowsky, T.; Weinstat-Saslow, D. L.; Barton, N.; Reeders, S. T.; Schneider, M. C.: A new human gene located in the PKD1 region of chromosome 16 is a functional homologue to ERV1 of yeast. Genomics 29: 690-697, 1995.
[0030499]21087.Honda, H.; Inazawa, J.; Nishida, J.; Yazaki, Y.; Hirai, H.: Molecular cloning, characterization, and chromosomal localization of a novel protein-tyrosine phosphatase, HPTP eta. Blood 84: 4186-4194, 1994.
[0030500]21088.Ostman, A.; Yang, Q.; Tonks, N. K.: Expression of DEP-1, a receptor-like proteintyrosine-phosphatase, is enhanced with increasing cell density. Proc. Nat. Acad. Sci. 91: 9680-9684, 1994.
[0030501]21089.Jacoby, A. S.; Webb, G. C.; Liu, M. L.; Kofler, B.; Hort, Y. J.; Fathi, Z.; Bottema, C. D. K.; Shine, J.; Iismaa, T. P.: Structural organization of the mouse and human GALR1 galanin receptor genes (Galnr and GALNR) and chromosomal localization of the mouse gene. Genomics 45: 496-508, 1997.
[0030502]21090.Tomoda, T.; Kurashige, T.; Moriki, T.; Yamamoto, H.; Fujimoto, S.; Taniguchi, T.: Enhanced expression of poly(ADP-ribose) synthetase gene in malignant lymphoma. Am. J. Hemat. 37: 223-227, 1991.
[0030503]21091.Vasquez, K. M.; Marburger, K.; Intody, Z.; Wilson, J. H.: Manipulating the mammalian genome by homologous recombination. Proc. Nat. Acad. Sci. 98: 8403-8410, 2001.
[0030504]21092.Yu, S.-W.; Wang, H.; Poitras, M. F.; Coombs, C.; Bowers, W. J.; Federoff, H. J.; Poirier, G. G.; Dawson, T. M.; Dawson, V. L.: Mediation of poly(ADP-ribose) polymerase-1-dependent cell death by apoptosis-inducing factor. Science 297: 259-263, 2002.
[0030505]21093.Zabel, B. U.; Herzog, H.; Schneider, R.; Auer, B.; Hirsch-Kauffmann, M.; Schweiger, M.: Chromosomal sublocalization of the gene for human poly (ADP-ribose) polymerase (NAD+ ADPribosyltransferase) at 1q41-42. (Abstract) Cytogenet. Cell Genet. 51: 1115, 1989.
[0030506]21094.Davidson, M. K.; Le Beau, M. M.; Eddy, R. L.; Shows, T. B.; DiPietro, L. A.; Kingzette, M.; Hanly, W. C.: Genetic mapping of the human polymeric immunoglobulin receptor gene to chromosome region 1q31-q41. Cytogenet. Cell Genet. 48: 107-111, 1988.
[0030507]21095.Hood, L.; Kronenberg, M.; Hunkapiller, T.: T cell antigen receptors and the immunoglobulin supergene family. Cell 40: 225-229, 1985.
[0030508]21096.Krajci, P.; Gedde-Dahl, T., Jr.; Hoyheim, B.; Rogde, S.; Olaisen, B.; Brandtzaeg, P.: The gene encoding human transmembrane secretory component (locus PIGR) is linked to D1S58 on chromosome 1. Hum. Genet. 90: 215-219, 1992.
[0030509]21097.Krajci, P.; Grzeschik, K. H.; Geurts van Kessel, A. H. M.; Olaisen, B.; Brandtzaeg, P.: The human transmembrane secretory component (poly-Ig receptor): molecular cloning, restriction fragment length polymorphism and chromosomal sublocalization. Hum. Genet. 87: 642-648, 1991.
[0030510]21098.Krajci, P.; Kvale, D.; Tasken, K.; Brandtzaeg, P.: Molecular cloning and exon-intron mapping of the gene encoding human transmembrane secretory component (the poly-Ig receptor). Europ. J. Immun. 22: 2309-2315, 1992.
[0030511]21099.Zhang, J.-R.; Mostov, K. E.; Lamm, M. E.; Nanno, M.; Shimida, S.; Ohwaki, M.; Tuomanen, E.: The polymeric immunoglobulin receptor translocates pneumococci across human nasopharyngeal epithelial cells. Cell 102: 827-837, 2000.
[0030512]21100.Bear, J. C.; McManamon, P.; Morgan, J.; Payne, R. H.; Lewis, H.; Gault, M. H.; Churchill, D. N.: Age at clinical onset and at ultrasonographic detection of adult polycystic kidney disease: data for genetic counselling. Am. J. Med. Genet. 18: 45-53, 1984.
[0030513]21101.Bear, J. C.; Parfrey, P. S.; Morgan, J. M.; Martin, C. J.; Cramer, B. C.: Autosomal dominant polycystic kidney disease: new information for genetic counselling. Am. J. Med. Genet. 43: 548-553, 1992.
[0030514]21102.Boichis, H.; Passwell, J.; David, R.; Miller, H.: Congenital hepatic fibrosis and nephronophthisis: a family study. Quart. J. Med. 42: 221-233, 1973.
[0030515]21103.Breuning, M. H.; Snijdewint, F. G. M.; Dauwerse, J. G.; Saris, J. J.; Bakker, E.; Pearson, P. L.; van Ommen, G. J. B.: Two step procedure for early diagnosis of polycystic kidney disease with polymorphic DNA markers on both sides of the gene. J. Med. Genet. 27: 614-617, 1990.
[0030516]21104.Breuning, M. H.; Snijdewint, F. G. M.; Brunner, H.; Verwest, A.; Ijdo, J. W.; Saris, J. J.; Dauwerse, J. G.; Blonden, L.; Keith, T.; Callen, D. F.; Hyland, V. J.; Xiao, G. H.; Scherer, G.; Higgs, D. R.; Harris, P.; Bachner, L.; Reeders, S. T.; Germino, G.; Pearson, P. L.; van Ommen, G. J. B.: Map of 16 polymorphic loci on the short arm of chromosome 16 close to the polycystic kidney disease gene (PKD1). J. Med. Genet. 27: 603-613, 1990.
[0030517]21105.Burn, T. C.; Connors, T. D.; Dackowski, W. R.; Petry L. R.; Van Raay, T. J.; Millholland, J. M.; Venet, M.; Miller, G.; Hakim, R. M.; Landes, G. M.; Klinger, K. W.; Qian, F.; Onuchic, L. F.; Watnick, T.; Germino, G. G.; Doggett, N. A.: Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease (PKD1) gene predicts the presence of a leucine-rich repeat. Hum. Molec. Genet. 4: 575-582, 1995.
[0030518]21106.Chanmugam, D.; Rasaretnam, R.; Karunaratne, K. E. S.: Hereditary spherocytosis and polycystic disease of the kidneys in four members of a family. Am. J. Hum. Genet. 23: 66, 1971.
[0030519]21107.Coto, E.; Aguado, S.; Alvarez, J.; Menendez Diaz, M. J.; Lopez-Larrea, C.: Genetic and clinical studies in autosomal dominant polycystic kidney disease type 1 (ADPKD1). J. Med. Genet. 29: 243-246, 1992.
[0030520]21108.de Villiers, J. N. P.; Hillermann, R.; Loubser, L.; Kotze, M. J. : Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria. Hum. Molec. Genet. 8: 1517-1522, 1999.
[0030521]21109.Deybach, J.-C.; Puy, H.; Robreau, A.-M.; Lamoril, J.; Da Silva, V.; Grandchamp, B.; Nordmann, Y.: Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria. Hum. Molec. Genet. 5: 407-410, 1996.
[0030522]21110.Meissner, P. N.; Dailey, T. A.; Hift, R. J.; Ziman, M.; Corrigall, A. V.; Roberts, A. G.; Meissner, D. M.; Kirsch, R. E.; Dailey, H. A.: A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria. Nature Genet. 13: 95-97, 1996.
[0030523]21111.Kalman, K.; Nguyen, A.; Tseng-Crank, J.; Dukes, I. D.; Chandy, G.; Hustad, C. M.; Copeland, N. G.; Jenkins, N. A.; Mohrenweiser, H.; Brandriff, B.; Cahalan, M.; Gutman, G. A.; Chandy, K. G.: Genomic organization, chromosomal localization, tissue distribution, and biophysical characterization of a novel mammalian Shaker-related voltage-gated potassium channel, Kv1.7. J. Biol. Chem. 273: 5851-5857, 1998.
[0030524]21112.Orkwiszewski, K. G.; Tedesco, T. A.; Mellman, W. J.; Croce, C. M.: Linkage relationship between the genes for thymidine kinase and galactokinase in different primates. Somat. Cell Genet. 2: 21-26, 1976.
[0030525]21113.Dunham, I.; Collins, J.; Wadey, R.; Scambler, P.: Possible role for COMT in psychosis associated with velo-cardio-facial syndrome. (Letter) Lancet 340: 1361-1362, 1992.
[0030526]21114.Pulkka, A.; Ihalainen, R.; Suorsa, A.; Riviere, M.; Szpirer, J.; Pajunen, A.: Structures and chromosomal localizations of two rat genes encoding S-adenosylmethionine decarboxylase. Genomics 16: 342-349, 1993.
[0030527]21115.Radford, D. M.; Eddy, R.; Haley, L.; Henry, W. M.; Pegg, A. E.; Pajunen, A.; Shows, T. B.: Gene sequences coding for S-adenosylmethionine decarboxylase are present on human chromosome 6 and the X and are not amplified in colon neoplasia. Cytogenet. Cell Genet. 49: 285-288, 1989.
[0030528]21116.Kleymenova, E.; Ibraghimov-Beskrovnaya, O.; Kugoh, H.; Everitt, J.; Xu, H.; Kiguchi, K.; Landes, G.; Harris, P.; Walker, C.: Tuberin-dependent membrane localization of polycystin-1: a functional link between polycystic kidney disease and the TSC2 tumor suppressor gene. Molec. Cell 7: 823-832, 2001.
[0030529]21117.Sandford, R.; Sgotto, B.; Burn, T.; Brenner, S.: The tuberin (TSC2), autosomal dominant polycystic kidney disease (PKD1), and somatostatin type V receptor (SSTR5) genes form a synteny group in the Fugu genome. Genomics 38: 84-86, 1996.
[0030530]21118.Pedeutour, F.; Szpirer, C.; Nahon, J.-L.: Assignment of the human pro-melaninconcentrating hormone gene (PMCH) to chromosome 12q23-q24 and two variant genes (PMCHL1 and PMCHL2) to chromosome 5p14 and 5q12-q13. Genomics 19: 31-37, 1994.
[0030531]21119.Chen, S.-J.; Zelent, A.; Tong, J.-H.; Yu, H.-Q.; Wang, Z.-Y.; Derre, J.; Berger, R.; Waxman, S.; Chen, Z.: Rearrangements of the retinoic acid receptor alpha and promyelocytic leukemia zinc finger genes resulting from t(11;17)(q23;q21) in a patient with acute promyelocytic leukemia. J. Clin. Invest. 91: 2260-2267, 1993.
[0030532]21120.Chen, Z.; Brand, N. J.; Chen, A.; Chen, S.-J.; Tong, J.-H.; Wang, Z.-Y.; Waxman, S.; Zelent, A.: Fusion between a novel Kruppel-like zinc finger gene and the retinoic acid receptor-alpha locus due to a variant t(11;17) translocation associated with acute promyelocytic leukaemia. EMBO J. 12: 1161-1167, 1993.
[0030533]21121.Chen, Z.; Guidez, F.; Rousselot, P.; Agadir, A.; Chen, S.-J.; Wang, Z.-Y.; Degos, L.; Zelent, A.; Waxman, S.; Chomienne, C.: PLZF-RAR-alpha fusion proteins generated from the variant t(11;17)(q23;q21) translocation in acute promyelocytic leukemia inhibit ligand-dependent transactivation of wild-type retinoic acid receptors. Proc. Nat. Acad. Sci. 91: 1178-1182, 1994.
[0030534]21122.Grignani, F.; De Matteis, S.; Nervi, C.; Tomassoni, L.; Gelmetti, V.; Cioce, M.; Fanelli, M.; Ruthardt, M.; Ferrara, F. F.; Zamir, I.; Seiser, C.; Grignani, F.; Lazar, M. A.; Minucci, S.; Pelicci, P. G. : Fusion proteins of the retinoic acid receptor-alpha recruit histone deacetylase in promyelocytic leukaemia. Nature 391: 815-818, 1998.
[0030535]21123.Lin, R. J.; Nagy, L.; Inoue, S.; Shao, W.; Miller, W. H., Jr.; Evans, R. M.: Role of the histone deacetylase complex in acute promyelocytic leukaemia. Nature 391: 811-814, 1998.
[0030536]21124.Burstedt, M. S.; Sandgren, O.; Holmgren, G.; Forsman-Semb, K.: Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26. Invest. Ophthal. Vis. Sci. 40: 995-1000, 1999.
[0030537]21125.Fournier, C. M.; Nicolas, G.; Gallagher, P. G.; Dhermy, D.; Grandchamp, B.; Lecomte, M.-C.: Spectrin St Claude, a splicing mutation of the human alpha-spectrin gene associated with severe poikilocytic anemia. Blood 89: 4584-4590, 1997.
[0030538]21126.Unger, S.; Korkko, J.; Krakow, D.; Lachman, R. S.; Rimoin, D. L.; Cohn, D. H.: Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita. Am. J. Med. Genet. 104: 140-146, 2001.
[0030539]21127.Burstedt, M. S. I.; Forsman-Semb, K.; Golovleva, I.; Janunger, T.; Wachtmeister, L.; Sandgren, O.: Ocular phenotype of Bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 gene. Arch Ophthal. 119: 260-267, 2001.
[0030540]21128.Crabb, J. W.; Goldflam, S.; Harris, S. E.; Saari, J. C.: Cloning of the cDNAs encoding the cellular retinaldehyde-binding protein from bovine and human retina and comparison of the protein structures. J. Biol. Chem. 263: 18688-18692, 1988.
[0030541]21129.Eichers, E. R.; Green, J. S.; Stockton, D. W.; Jackman, C. S.; Whelan, J.; McNamara, J. A.; Johnson, G. J.; Lupski, J. R.; Katsanis, N.: Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1. Am. J. Hum. Genet. 70: 955-964, 2002.
[0030542]21130.Granse, L.; Abrahamson, M.; Ponjavic, V.; Andreasson, S.: Electrophysiological findings in two young patients with Bothnia dystrophy and a mutation in the RLBP1 gene. Ophthal. Genet. 22: 97-105, 2001.
[0030543]21131.Intres, R.; Goldflam, S.; Cook, J. R.; Crabb, J. W.: Molecular cloning and structural analysis of the human gene encoding cellular retinaldehyde-binding protein. J. Biol. Chem. 269: 25411-25418, 1994.
[0030544]21132.Katsanis, N.; Shroyer, N. F.; Lewis, R. A.; Cavender, J. C.; Al-Rajhi, A. A.; Jabak, M.; Lupski, J. R.: Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1. Clin. Genet. 59: 424-429, 2001.
[0030545]21133.Maw, M. A.; Kennedy, B.; Knight, A.; Bridges, R.; Roth, K. E.; Mani, E. J.; Mukkadan, J. K.; Nancarrow, D.; Crabb, J. W.; Denton, M. J.: Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa. Nature Genet. 17: 198-200, 1997.
[0030546]21134.Morimura, H.; Berson, E. L.; Dryja, T. P.: Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens. Invest. Ophthal. Vis. Sci. 40: 1000-1004, 1999.
[0030547]21135.Sparkes, R. S.; Heinzmann, C.; Goldflam, S.; Kojis, T.; Saari, J. C.; Mohandas, T.; Klisak, I.; Bateman, J. B.; Crabb, J. W.: Assignment of the gene (RLBP1) for cellular retinaldehydebinding protein (CRALBP) to human chromosome 15q26 and mouse chromosome 7. Genomics 12: 58-62, 1992.
[0030548]21136.Blanton, S. H.; Heckenlively, J. R.; Cottingham, A. W.; Friedman, J.; Sadler, L. A.; Wagner, M.; Friedman, L. H.; Daiger, S. P.: Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8. Genomics 11: 857-869, 1991.
[0030549]21137.Farrar, G. J.; McWilliam, P.; Bradley, D. G.; Kenna, P.; Lawler, M.; Sharp, E. M.; Humphries, M. M.; Eiberg, H.; Conneally, P. M.; Trofatter, J. A.; Humphries, P.: Autosomal dominant retinitis pigmentosa: linkage to rhodopsin and evidence for genetic heterogeneity. Genomics 8: 35-40, 1990.
[0030550]21138.Wang, S.-Q.; Song, L.-S.; Lakatta, E. G.; Cheng, H.: Ca(2+) signalling between single L-type Ca(2+) channels and ryanodine receptors in heart cells. Nature 410: 592-596, 2001.
[0030551]21139.Laitinen, P. J.; Brown, K. M.; Piippo, K.; Swan, H.; Devaney, J. M.; Brahmbhatt, B.; Donarum, E. A.; Marino, M.; Tiso, N.; Viitasalo, M.; Toivonen, L.; Stephan, D. A.; Kontula, K.: Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia. Circulation 103: 485-490, 2001.
[0030552]21140.Marx, S. O.; Reiken, S.; Hisamatsu, Y.; Jayaraman, T.; Burkhoff, D.; Rosemblit, N.; Marks, A. R.: PKA phosphorylation dissociates FKBP12.6 from the calcium release channel (ryanodine receptor): defective regulation in failing hearts. Cell 101: 365-376, 2000.
[0030553]21141.Mattei, M. G.; Giannini, G.; Moscatelli, F.; Sorrentino, V.: Chromosomal localization of murine ryanodine receptor genes RYR1, RYR2, and RYR3 by in situ hybridization. Genomics 22: 202-204, 1994.
[0030554]21142.Otsu, K.; Willard, H. F.; Khanna, V. K.; Zorzato, F.; Green, N. M.; MacLennan, D. H.: Molecular cloning of cDNA encoding the Ca2+ release channel (ryanodine receptor) of rabbit cardiac muscle sarcoplasmic reticulum. J. Biol. Chem. 265: 13472-13483, 1990.
[0030555]21143.Priori, S. G.; Napolitano, C.; Tiso, N.; Memmi, M.; Vignati, G.; Bloise, R.; Sorrentino, V.; Danieli, G. A.: Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. Circulation 102: r49-r53, 2000.
[0030556]21144.Zorzato, F.; Fujii, J.; Otsu, K.; Phillips, M.; Green, N. M.; Lai, F. A.; Meissner, G.; MacLennan, D. H.: Molecular cloning of cDNA encoding human and rabbit forms of the Ca2+ release channel (ryanodine receptor) of skeletal muscle sarcoplasmic reticulum. J. Biol. Chem. 265: 2244-2256, 1990.
[0030557]21145.Bertocchini, F.; Ovitt, C. E.; Conti, A.; Barone, V.; Scholer, H. R.; Bottinelli, R.; Reggiani, C.; Sorrentino, V.: Requirement for the ryanodine receptor type 3 for efficient contraction in neonatal skeletal muscles. EMBO J. 16: 6956-6963, 1997.
[0030558]21146.Futatsugi, A.; Kato, K.; Ogura, H.; Li, S.-T.; Nagata, E.; Kuwajima, G.; Tanaka, K.; Itohara, S.; Mikoshiba, K.: Facilitation of NMDAR-independent LTP and spatial learning in mutant mice lacking ryanodine receptor type 3. Neuron 24: 701-713, 1999.
[0030559]21147.Hakamata, Y.; Nakai, J.; Takeshima, H.; Imoto, K.: Primary structure and distribution of a novel ryanodine receptor/calcium release channel from rabbit brain. FEBS Lett. 312: 229-235, 1992.
[0030560]21148.Leeb, T.; Brenig, B.: cDNA cloning and sequencing of the human ryanodine receptor type 3 (RYR3) reveals a novel alternative splice site in the RYR3 gene. FEBS Lett. 423: 367-370, 1998.
[0030561]21149.Sorrentino, V.; Giannini, G.; Malzac, P.; Mattei, M. G.: Localization of a novel ryanodine receptor gene (RYR3) to human chromosome 15q14-q15 by in situ hybridization. Genomics 18: 163-165, 1993.
[0030562]21150.Takeshima, H.; Ikemoto, T.; Nishi, M.; Nishiyama, N.; Shimuta, M.; Sugitani, Y.; Kuno, J.; Saito, I.; Saito, H.; Endo, M.; Iino, M.; Noda, T.: Generation and characterization of mutant mice lacking ryanodine receptor type 3. J. Biol. Chem. 271: 19649-19652, 1996.
[0030563]21151.Tiso, N.; Stephan, D. A.; Nava, A.; Bagattin, A.; Devaney, J. M.; Stanchi, F.; Larderet, G.; Brahmbhatt, B.; Brown, K.; Bauce, B.; Muriago, M.; Basso, C.; Thiene, G.; Danieli, G. A.; Rampazzo, A.: Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum. Molec. Genet. 10: 189-194, 2001.
[0030564]21152.Gallagher, P. G.; Forget, B. G.: Hematologically important mutations: spectrin and ankyrin variants in hereditary spherocytosis. Blood Cells Molec. Dis. 24: 539-543, 1998.
[0030565]21153.Gallagher, P. G.; Forget, B. G.: Hematologically important mutations: spectrin variants in hereditary elliptocytosis and hereditary pyropoikilocytosis. Blood Cells Molec. Dis. 22: 254-258, 1996.
[0030566]21154.Gallagher, P. G.; Forget, B. G.: Spectrin genes in health and disease. Seminars Hemat. 30: 4-20, 1993.
[0030567]21155.Gallagher, P. G.; Tse, W. T.; Coetzer, T.; Lecomte, M.-C.; Garbarz, M.; Zarkowsky, H. S.; Baruchel, A.; Ballas, S. K.; Dhermy, D.; Palek, J.; Forget, B. G.: A common type of the spectrin alpha-I 46-50a-kD peptide abnormality in hereditary elliptocytosis and pyropoikilocytosis is associated with a mutation distant from the proteolytic cleavage site: evidence for the functional importance of the triple helical model of spectrin. J. Clin. Invest. 89: 892-898, 1992.
[0030568]21156.Gallagher, P. G.; Tse, W. T.; Marchesi, S. L.; Zarkowsky, H. S.; Forget, B. G.: A defect in alpha-spectrin mRNA accumulation in hereditary pyropoikilocytosis. Trans. Assoc. Am. Phys. 104: 32-39, 1991.
[0030569]21157.Garbarz, M.; Lecomte, M.-C.; Feo, C.; Devaux, I.; Picat, C.; Lefebvre, C.; Galibert, F.; Gautero, H.; Bournier, O.; Galand, C.; Forget, B. G.; Boivin, P.; Dhermy, D.: Hereditary pyropoikilocytosis and elliptocytosis in a white French family with the spectrin alpha(I/74) variant related to a CGT to CAT codon change (arg to his) at position 22 of the spectrin alpha-I domain. Blood 75: 1691-1698, 1990.
[0030570]21158.Garbarz, M.; Lecomte, M. C.; Dhermy, D.; Feo, C.; Chaveroche, I.; Gautero, H.; Bournier, O.; Picat, C.; Goepp, A.; Boivin, P.: Double inheritance of an alpha I/65 spectrin variant in a child with homozygous elliptocytosis. Blood 67: 1661-1667, 1986.
[0030571]21159.Garbarz, M.; Lecomte, M. C.; Lefebvre, C.; Devaux, I.; Galibert, F.; Boivin, P.; Forget, B. G.; Dhermy, D.: The DNAs from HE and HPP patients in a Caucasian French family with the spectrin alpha-I/74-kD variant contain a CGT-to-CAT codon change (arg-to-his) at position 22 of the alpha-I/80-kD domain. (Abstract) Blood 74: 181A, 1989.
[0030572]21160.Guetarni, D.; Roux, A.-F.; Alloisio, N.; Morle, F.; Ducluzeau, M. T.; Forget, B. G.; Colonna, P.; Delaunay, J.; Godet, J.: Evidence that expression of Sp-alpha-(I/65) hereditary elliptocytosis is compounded by a genetic factor that is linked to the homologous alpha-spectrin allele. Hum. Genet. 85: 627-630, 1990.
[0030573]21161.Hassoun, H.; Coetzer, T. L.; Vassiliadis, J. N.; Sahr, K. E.; Maalouf, G. J.; Saad, S. T. O.; Catanzariti, L.; Palek, J.: A novel mobile element inserted in the alpha-spectrin gene: spectrin Dayton--a truncated alpha-spectrin associated with hereditary elliptocytosis. J. Clin. Invest. 94: 643-648, 1994.
[0030574]21162.Huebner, K.; Palumbo, A. P.; Isobe, M.; Kozak, C. A.; Monaco, S.; Rovera, G.; Croce, C. M.; Curtis, P. J.: The alpha-spectrin gene is on chromosome 1 in mouse and man. Proc. Nat. Acad. Sci. 82: 3790-3793, 1985.
[0030575]21163.Iarocci, T. A.; Wagner, G. M.; Mohandas, N.; Lane, P. A.; Mentzer, W. C.: Hereditary poikilocytic anemia associated with the co-inheritance of two alpha spectrin abnormalities. Blood 71: 1390-1396, 1988.
[0030576]21164.Knowles, W. J.; Bologna, M. L.; Chasis, J. A.; Marchesi, S. L.; Marchesi, V. T.: Common structural polymorphisms in human erythrocyte spectrin. J. Clin. Invest. 73: 973-979, 1984.
[0030577]21165.Kotula, L.; Laury-Kleintop, L. D.; Showe, L.; Sahr, K.; Linnenbach, A. J.; Forget, B.; Curtis, P. J.: The exon-intron organization of the human erythrocyte alpha-spectrin gene. Genomics 9: 131-140, 1991.
[0030578]21166.Lambert, S.; Zail, S.: A new variant of the alpha-subunit of spectrin in hereditary elliptocytosis. Blood 69: 473-478, 1987.
[0030579]21167.Lane, P. A.; Shew, R. L.; Iarocci, T. A.; Mohandas, N.; Hays, T.; Mentzer, W. C.: Unique alpha-spectrin mutant in a kindred with common hereditary elliptocytosis. J. Clin. Invest. 79: 989-996, 1987.
[0030580]21168.Lawler, J.; Coetzer, T. L.; Mankad, V. N.; Moore, R. B.; Prchal, J. T.; Palek, J.: Spectrin-alpha(I/61): a new structural variant of alpha-spectrin in a double-heterozygous form of hereditary pyropoikilocytosis. Blood 72: 1412-1415, 1988.
[0030581]21169.Lawler, J.; Coetzer, T. L.; Palek, J.; Jacob, H. S.; Luban, N. : Sp alpha(I/65): a new variant of the alpha subunit of spectrin in hereditary elliptocytosis. Blood 66: 706-709, 1985.
[0030582]21170.Lawler, J.; Liu, S.-C.; Palek, J.; Prchal, J.: A molecular defect in spectrin with a subset of patients with hereditary elliptocytosis: alterations in the alpha-subunit domain involved in spectrin selfassociation. J. Clin. Invest. 73: 1688-1695, 1984.
[0030583]21171.Lecomte, M.-C.; Dhermy, D.; Garbarz, M.; Feo, C.; Gautero, H.; Bournier, O.; Picat, C.; Chaveroche, I.; Ester, A.; Galand, C.; Boivin, P.: Pathologic and nonpathologic variants of the spectrin molecule in two black families with hereditary elliptocytosis. Hum. Genet. 71: 351-357, 1985.
[0030584]21172.Lecomte, M.-C.; Dhermy, D.; Solis, C.; Ester, A.; Feo, C.; Gautero, H.; Bournier, O.; Boivin, P.: A new abnormal variant of spectrin in black patients with hereditary elliptocytosis. Blood 65: 1208-1217, 1985.
[0030585]21173.Lecomte, M.-C.; Garbarz, M.; Grandchamp, B.; Feo, C.; Gautero, H.; Devaux, I.; Bournier, O.; Galand, C.; d'Auriol, L.; Galibert, F.; Sahr, K. E.; Forget, B. G.; Boivin, P.; Dhermy, D.: Sp-alpha(I/78): a mutation of the alpha-I spectrin domain in a white kindred with HE and HPP phenotypes. Blood 74: 1126-1133, 1989.
[0030586]21174.Lecomte, M. C.; Dhermy, D.; Garbarz, M.; Feo, C.; Gautero, H.; Bournier, O.; Picat, C.; Chaveroche, I.; Galand, C.; Boivin, P.: Hereditary pyropoikilocytosis and elliptocytosis in a Caucasian family: transmission of the same molecular defect in spectrin through three generations with different clinical expression. Hum. Genet. 77: 329-334, 1987.
[0030587]21175.Lecomte, M. C.; Dhermy, D.; Gautero, H.; Bournier, O.; Galand, C.; Boivin, P.: L'elliptocytose hereditaire en Afrique de l'Ouest: frequence et repartition des variants de la spectrine. C. R. Acad. Sci. 306: 43-46, 1988.
[0030588]21176.Lecomte, M. C.; Feo, C.; Gautero, H.; Bournier, O.; Galand, C.; Garbarz, M.; Boivin, P.; Dhermy, D.: Severe recessive poikilocytic anaemia with a new spectrin alpha chain variant. Brit. J. Haemat. 74: 497-507, 1990.
[0030589]21177.Linnenbach, A. J.; Speicher, D. W.; Marchesi, V. T.; Forget, B. G.: Cloning of a portion of the chromosomal gene for human erythrocyte alpha-spectrin by using a synthetic gene fragment. Proc. Nat. Acad. Sci. 83: 2397-2401, 1986.
[0030590]21178.Bigler, R. D.; Bushkin, Y.; Chiorazzi, N.: S152 (CD27): a modulating disulfide-linked T cell activation antigen. J. Immun. 141: 21-28, 1988.
[0030591]21179.Hendriks, J.; Gravestein, L. A.; Tesselaar, K.; van Lier, R. A. W.; Schumacher, T. N. M.; Borst, J.: CD27 is required for generation and long-term maintenance of T cell immunity. Nature Immun. 1: 433-440, 2000.
[0030592]21180.Prasad, K. V. S.; Ao, Z.; Yoon, Y.; Wu, M. X.; Rizk, M.; Jacquot, S.; Schlossman, S. F.: CD27, a member of the tumor necrosis factor receptor family, induces apoptosis and binds to Siva, a proapoptotic protein. Proc. Nat. Acad. Sci. 94: 6346-6351, 1997.
[0030593]21181.Moody, D. B.; Ulrichs, T.; Muhlecker, W.; Young, D. C.; Gurcha, S. S.; Grant, E.; Rosat, J.-P.; Brenner, M. B.; Costello, C. E.; Besra, G. S.; Porcelli, S. A.: CD1c-mediated T-cell recognition of isoprenoid glycolipids in Mycobacterium tuberculosis infection. Nature 404: 884-888, 2000.
[0030594]21182.Park, S.-H.; Bendelac, A.: CD1-restricted T-cell responses and microbial infection. Nature 406: 788-792, 2000.
[0030595]21183.Albertson, D. G.; Fishpool, R.; Sherrington, P.; Nacheva, E.; Milstein, C.: Sensitive and high resolution in situ hybridization to human chromosomes using biotin labelled probes: assignment of the human thymocyte CD1 antigen genes to chromosome 1. EMBO J. 7: 2801-2805, 1988.
[0030596]21184.Balk, S. P.; Bleicher, P. A.; Terhorst, C.: Isolation and characterization of a cDNA and gene coding for a fourth CD1 molecule. Proc. Nat. Acad. Sci. 86: 252-256, 1989.
[0030597]21185.Calabi, F.; Milstein, C.: A novel family of human major histocompatibility complexrelated genes not mapping to chromosome 6. Nature 323: 540-543, 1986.
[0030598]21186.Nishimura, K.; Taketani, S.; Inokuchi, H.: Cloning of a human cDNA for protoporphyrinogen oxidase by complementation in vivo of a hemG mutant of Escherichia coli. J. Biol. Chem. 270: 8076-8080, 1995.
[0030599]21187.Roberts, A. G.; Whatley, S. D.; Daniels, J.; Holmans, P.; Fenton, I.; Owen, M. J.; Thompson, P.; Long, C.; Elder, G. H.: Partial characterization and assignment of the gene for protoporphyrinogen oxidase and variegate porphyria to human chromosome 1q23. Hum. Molec. Genet. 4: 2387-2390, 1995.
[0030600]21188.Taketani, S.; Inazawa, J.; Abe, T.; Furukawa, T.; Kohno, H.; Tokunaga, R.; Nishimura, K.; Inokuchi, H.: The human protoporphyrinogen oxidase gene (PPOX): organization and location to chromosome 1. Genomics 29: 698-703, 1995.
[0030601]21189.Warnich, L.; Kotze, M. J.; Groenewald, I. M.; Groenewald, J. Z.; van Brakel, M. G.; van Heerden, C. J.; de Villiers, J. N. P.; van de Ven, W. J. M.; Schoenmakers, E. F. P. M.; Taketani, S.; Retief, A. E.: Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria. Hum. Molec. Genet. 5: 981-984, 1996.
[0030602]21190.Albrecht, B.; Weber, K.; Pongs, O.: Characterization of a voltage-activated K-channel gene cluster on human chromosome 12p13. Receptors Channels 3: 213-220, 1995.
[0030603]21191.Klocke, R.; Roberds, S. L.; Tamkun, M. M.; Gronemeier, M.; Augustin, A.; Albrecht, B.; Pongs, O.; Jockusch, H.: Chromosomal mapping in the mouse of eight K(+)-channel genes representing the four Shaker-like subfamilies Shaker, Shab, Shaw, and Shal. Genomics 18: 568-574, 1993.
[0030604]21192.Curran, M. E.; Landes, G. M.; Keating, M. T.: Molecular cloning, characterization, and genomic localization of a human potassium channel gene. Genomics 12: 729-737, 1992.
[0030605]21193.Al-Chalabi, A.; Andersen, P. M.; Nilsson, P.; Chioza, B.; Andersson, J. L.; Russ, C.; Shaw, C. E.; Powell, J. F.; Leigh, P. N.: Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis. Hum. Molec. Genet. 8: 157-164, 1999.
[0030606]21194.Collard, J.-F.; Cote, F.; Julien, J.-P.: Defective axonal transport in a transgenic mouse model of amyotrophic lateral sclerosis. Nature 375: 61-64, 1995.
[0030607]21195.Figlewicz, D. A.; Krizus, A.; Martinoli, M. G.; Meininger, V.; Dib, M.; Rouleau, G. A.; Julien, J.-P.: Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis. Hum. Molec. Genet. 3: 1757-1761, 1994.
[0030608]21196.Lees, J. F.; Shneidman, P. S.; Skuntz, S. F.; Carden, M. J.; Lazzarini, R. A.: The structure and organization of the human heavy neurofilament subunit (NF-H) and the gene encoding it. EMBO J. 7: 1947-1955, 1988.
[0030609]21197.Mattei, M.-G.; Dautigny, A.; Pham-Dinh, D.; Passage, E.; Mattei, J.-F.; Jolles, P.: The gene encoding the large human neurofilament subunit (NF-H) maps to the q121-q131 region on human chromosome 22. Hum. Genet. 80: 293-295, 1988.
[0030610]21198.Rooke, K.; Figlewicz, D. A.; Han, F.; Rouleau, G. A.: Analysis of the KSP repeat of the neurofilament heavy subunit in familial amyotrophic lateral sclerosis. Neurology 46: 789-790, 1996.
[0030611]21199.Rouleau, G. A.; Merel, P.; Lutchman, M.; Sanson, M.; Zucman, J.; Marineau, C.; Hoang-Xuan, K.; Demczuk, S.; Desmaze, C.; Plougastel, B.; Pulst, S. M.; Lenoir, G.; Bijlsma, E.; Fashold, R.; Dumanski, J.; de Jong, P.; Parry, D.; Eldrige, R.; Aurias, A.; Delattre, O.; Thomas, G.: Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2. Nature 363: 515-521, 1993.
[0030612]21200.Tomkins, J.; Usher, P.; Slade, J. Y.; Ince, P. G.; Curtis, A.; Bushby, K.; Shaw, P. J.: Novel insertion in the KSP region of the neurofilament heavy gene in amyotrophic lateral sclerosis. Neuroreport 9: 3967-3970, 1998.
[0030613]21201.Vechio, J. D.; Bruijn, L. I.; Xu, Z.; Brown, R. H., Jr.; Cleveland, D. W.: Sequence variants in human neurofilament proteins: absence of linkage to familial amyotrophic lateral sclerosis. Ann. Neurol. 40: 603-610, 1996.
[0030614]21202.Watson, C. J.; Gaunt, L.; Evans, G.; Patel, K.; Harris, R.; Strachan, T.: A diseaseassociated germline deletion maps the type 2 neurofibromatosis (NF2) gene between the Ewing sarcoma region and the leukaemia inhibitory factor locus. Hum. Molec. Genet. 2: 701-704, 1993.
[0030615]21203.Umehara, F.; Kiwaki, T.; Yoshikawa, H.; Nishimura, T.; Nakagawa, M.; Matsumoto, W.; Hashimoto, K.; Izumo, S.; Arimura, Y.; Arimura, K.; Kuriyama, M.; Osame, M.: Deletion in chromosome 17p11.2 including the peripheral myelin protein-22 (PMP-22) gene in hereditary neuropathy with liability to pressure palsies. J. Neurol. Sci. 133: 173-176, 1995.
[0030616]21204.Barker, P. E.; Besmer, P.; Ruddle, F. H.: Human c-kit oncogene on human chromosome 4. (Abstract) Am. J. Hum. Genet. 37: A143, 1985.
[0030617]21205.Beghini, A.; Larizza, L.; Cairoli, R.; Morra, E.: c-kit activating mutations and mast cell proliferation in human leukemia. (Letter) Blood 92: 701-702, 1998.
[0030618]21206.Beghini, A.; Tibiletti, M.; Roversi, G.; Chiaravalli, A.; Serio, G.; Capella, C.; Larizza, L.: Germline mutation in the juxtamembrane domain of the KIT gene in a family with gastrointestinal stromal tumors and urticaria pigmentosa. Cancer 92: 657-662, 2001.
[0030619]21207.Blume-Jensen, P.; Jiang, G.; Hyman, R.; Lee, K.-F.; O'Gorman, S.; Hunter, T.: Kit/stem cell factor receptor-induced activation of phosphatidylinositol 3-prime-kinase is essential for male fertility. Nature Genet. 24: 157-162, 2000.
[0030620]21208.Bolognia, J. L.; Pawelek, J. M.: Biology of hypopigmentation. J. Am. Acad. Derm. 19: 217-255, 1988.
[0030621]21209.Brannan, C. I.; Lyman, S. D.; Williams, D. E.; Eisenman, J.; Anderson, D. M.; Cosman, D.; Bedell, M. A.; Jenkins, N. A.; Copeland, N. G. : Steel-Dickie mutation encodes a c-kit ligand lacking transmembrane and cytoplasmic domains. Proc. Nat. Acad. Sci. 88: 4671-4674, 1991.
[0030622]21210.Chabot, B.; Stephenson, D. A.; Chapman, V. M.; Besmer, P.; Bernstein, A.: The protooncogene c-kit encoding a transmembrane tyrosine kinase receptor maps to the mouse W locus. Nature 335: 88-89, 1988.
[0030623]21211.d'Auriol, L.; Mattei, M.-G.; Andre, C.; Galibert, F.: Localization of the human c-kit protooncogene on the q11-q12 region of chromosome 4. Hum. Genet. 78: 374-376, 1988.
[0030624]21212.De Miguel, M. P.; Cheng, L.; Holland, E. C.; Federspiel, M. J.; Donovan, P. J.: Dissection of the c-Kit signaling pathway in mouse primordial germ cells by retroviral-mediated gene transfer. Proc. Nat. Acad. Sci. 99: 10458-10463, 2002.
[0030625]21213.Dubreuil, P.; Forrester, L.; Rottapel, R.; Reedijk, M.; Fujita, J.; Bernstein, A.: The cfms gene complements the mitogenic defect in mast cells derived from mutant W mice but not mi (microphthalmia) mice. Proc. Nat. Acad. Sci. 88: 2341-2345, 1991.
[0030626]21214.el-Omar, M.; Davies, J.; Gupta, S.; Ross, H.; Thompson, R.: Leiomyosarcoma in leiomyomatosis of the small intestine. Postgrad. Med. J. 70: 661-664, 1994.
[0030627]21215.Fleischman, R. A.: Human piebald trait resulting from a dominant negative mutant allele of the c-kit membrane receptor gene. J. Clin. Invest. 89: 1713-1717, 1992.
[0030628]21216.Fleischman, R. A.; Saltman, D. L.; Stastny, V.; Zneimer, S.: Deletion of the c-kit protooncogene in the human developmental defect piebald trait. Proc. Nat. Acad. Sci. 88: 10885-10889, 1991.
[0030629]21217.Fritsche-Polanz, R.; Jordan, J.-H.; Feix, A.; Sperr, W. R.; Sunder-Plassmann, G.; Valent, P.; Fodinger, M.: Mutation analysis of C-KIT in patients with myelodysplastic syndromes without mastocytosis and cases of systemic mastocytosis. Brit. J. Haemat. 113: 357-364, 2001.
[0030630]21218.Geissler, E. N.; Ryan, M. A.; Housman, D. E.: The dominant-white spotting (W) locus of the mouse encodes the c-kit proto-oncogene. Cell 55: 185-192, 1988.
[0030631]21219.Giebel, L. B.; Spritz, R. A.: Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism. Proc. Nat. Acad. Sci. 88: 8696-8699, 1991.
[0030632]21220.Hirota, S.; Isozaki, K.; Moriyama, Y.; Hashimoto, K.; Nishida, T.; Ishiguro, S.; Kawano, K.; Hanada, M.; Kurata, A.; Takeda, M.; Tunio, G. M.; Matsuzawa, Y.; Kanakura, Y.; Shinomura, Y.; Kitamura, Y.: Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. Science 279: 577-580, 1998.
[0030633]21221.Huizinga, J. D.; Thuneberg, L.; Kluppel, M.; Malysz, J.; Mikkelsen, H. B.; Bernstein, A.: W/kit gene required for interstitial cells of Cajal and for intestinal pacemaker activity. Nature 373: 347-349, 1995.
[0030634]21222.Furitsu, T.; Tsujimura, T.; Tono, T.; Ikeda, H.; Kitayama, H.; Koshimizu, U.; Sugahara, H.; Butterfield, J. H.; Ashman, L. K.; Kanayama, Y.; Matsuzawa, Y.; Kitamura, Y.; Kanakura, Y.: Identification of mutations in the coding sequence of the proto-oncogene c-kit in a human mast cell leukemia cell line causing ligand-independent activation of c-kit product. J. Clin. Invest. 92: 1736-1744, 1993.
[0030635]21223.Ingram, D. A.; Yang, F.-C.; Travers, J. B.; Wenning, M. J.; Hiatt, K.; New, S.; Hood, A.; Shannon, K.; Williams, D. A.; Clapp, D. W. : Genetic and biochemical evidence that haploinsufficiency of the Nf1 tumor suppressor gene modulates melanocyte and mast cell fates in vivo. J. Exp. Med. 191: 181-187, 2000.
[0030636]21224.Isozaki, K.; Terris, B.; Belghiti, J.; Schiffmann, S.; Hirota, S.; Vanderwinden, J.-M.: Germline-activating mutation in the kinase domain of KIT gene in familial gastrointestinal stromal tumors. Am. J. Path. 157: 1581-1585, 2000.
[0030637]21225.Joensuu, H.; Roberts, P. J.; Sarlomo-Rikala, M.; Andersson, L. C.; Tervahartiala, P.; Tuveson, D.; Silberman, S. L.; Capdeville, R.; Dimitrijevic, S.; Druker, B.; Demetri, G. D.: Effect of the tyrosine kinase inhibitor STI571 in a patient with a metastatic gastrointestinal stromal tumor. New Eng. J. Med. 344: 1052-1056, 2001.
[0030638]21226.Johansson Moller, M.; Chaudhary, R.; Hellmen, E.; Hoyheim, B.; Chowdhary, B.; Andersson, L.: Pigs with the dominant white coat color phenotype carry a duplication of the KIT gene encoding the mast/stem cell growth factor receptor. Mammalian Genome 7: 822-830, 1996.
[0030639]21227.Lasota, J.; Jasinski, M.; Sarlomo-Rikala, M.; Miettinen, M.: Mutations in exon 11 of ckit occur preferentially in malignant versus benign gastrointestinal stromal tumors and do not occur in leiomyomas or leiomyosarcomas. Am. J. Path. 154: 53-60, 1999.
[0030640]21228.Longley, B. J.; Tyrrell, L.; Lu, S.-Z.; Ma, Y.-S.; Langley, K.; Ding, T.; Duffy, T.; Jacobs, P.; Tang, L. H.; Modlin, I.: Somatic c-KIT activating mutation in urticaria pigmentosa and aggressive mastocytosis: establishment of clonality in a human mast cell neoplasm. Nature Genet. 12: 312-314, 1996.
[0030641]21229.Longley, B. J., Jr.; Metcalfe, D. D.; Tharp, M.; Wang, X.; Tyrrell, L.; Lu, S.-Z.; Heitjan, D.; Ma, Y.: Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis. Proc. Nat. Acad. Sci. 96: 1609-1614, 1999.
[0030642]21230.Marklund, S.; Kijas, J.; Rodriguez-Martinez, H.; Ronnstrand, L.; Funa, K.; Moller, M.; Lange, D.; Edfors-Lilja, I.; Andersson, L.: Molecular basis for the dominant white phenotype in the domestic pig. Genome Res. 8: 826-833, 1998.
[0030643]21231.Ingalls, A. M.; Dickie, M. M.; Snell, G. D.: Obese, a new mutation in the house mouse. J. Hered. 41: 317-318, 1950.
[0030644]21232.Ioffe, E.; Moon, B.; Connolly, E.; Friedman, J. M.: Abnormal regulation of the leptin gene in the pathogenesis of obesity. Proc. Nat. Acad. Sci. 95: 11852-11857, 1998.
[0030645]21233.Isse, N.; Ogawa, Y.; Tamura, N.; Masuzaki, H.; Mori, K.; Okazaki, T.; Satoh, N.; Shigemoto, M.; Yoshimasa, Y.; Nishi, S.; Hosoda, K.; Inazawa, J.; Nakao, K.: Structural organization and chromosomal assignment of the human obese gene. J. Biol. Chem. 270: 27728-27733, 1995.
[0030646]21234.Jaquet, D.; Leger, J.; Levy-Marchal, C.; Oury, J. F.; Czernichow, P.: Ontogeny of leptin in human fetuses and newborns: effect of intrauterine growth retardation on serum leptin concentrations. J. Clin. Endocr. Metab. 83: 1243-1246, 1998.
[0030647]21235.Karvonen, M. K.; Pesonen, U.; Heinonen, P.; Laakso, M.; Rissanen, A.; Naukkarinen, H.; Valve, R.; Uusitupa, M. I. J.; Koulu, M.: Identification of new sequence variants in the leptin gene. J. Clin. Endocr. Metab. 83: 3239-3242, 1998.
[0030648]21236.Kawai, K.; Sugimoto, K.; Nakashima, K.; Miura, H.; Ninomiya, Y. : Leptin as a modulator of sweet taste sensitivities in mice. Proc. Nat. Acad. Sci. 97: 11044-11049, 2000.
[0030649]21237.Kennedy, A.; Gettys, T. W.; Watson, P.; Wallace, P.; Ganaway, E.; Pan, Q.; Garvey, W. T.: The metabolic significance of leptin in humans: Gender-based differences in relationship to adiposity, insulin sensitivity, and energy expenditure. J. Clin. Endocr. Metab. 82: 1293-1300, 1997.
[0030650]21238.Koistinen, H. A.; Koivisto, V. A.; Andersson, S.; Karonen, S.-L.; Kontula, K.; Oksanen, L.; Teramo, K. A.: Leptin concentration in cord blood correlates with intrauterine growth. J. Clin. Endocr. Metab. 82: 3328-3330, 1997.
[0030651]21239.Li, W.-D.; Reed, D. R.; Lee, J. H.; Xu, W.; Kilker, R. L.; Sodam, B. R.; Price, R. A.: Sequence variants in the 5-prime flanking region of the leptin gene are associated with obesity in women. Ann. Hum. Genet. 63: 227-234, 1999.
[0030652]21240.Lonnqvist, F.; Arner, P.; Nordfors, L.; Schalling, M.: Overexpression of the obese (ob) gene in adipose tissue of human obese subjects. Nature Med. 1: 950-953, 1995.
[0030653]21241.Lord, G. M.; Matarese, G.; Howard, J. K.; Baker, R. J.; Bloom, S. R.; Lechler, R. I.: Leptin modulates the T-cell immune response and reverses starvation-induced immunosuppression. Nature 394: 897-901, 1998.
[0030654]21242.Lucantoni, R.; Ponti, E.; Berselli, M. E.; Savia, G.; Minocci, A.; Calo, G.; de Medici, C.; Liuzzi, A.; Di Blasio, A. M.: The A19G polymorphism in the 5-prime untranslated region of the human obese gene does not affect leptin levels in severely obese patients. J. Clin. Endocr. Metab. 85: 3589-3591, 2000.
[0030655]21243.Maffei, M.; Fei, H.; Lee, G.-H.; Dani, C.; Leroy, P.; Zhang, Y.; Proenca, R.; Negrel, R.; Ailhaud, G.; Friedman, J. M.: Increased expression in adipocytes of ob RNA in mice with lesions of the hypothalamus and with mutations at the db locus. Proc. Nat. Acad. Sci. 92: 6957-6960, 1995.
[0030656]21244.Mammes, O.; Betoulle, D.; Aubert, R.; Giraud, V.; Tuzet, S.; Petiet, A.; Colas-Linhart, N.; Fumeron, F.: Novel polymorphisms in the 5-prime region of the LEP gene: association with leptin levels and response to low-calorie diet in human obesity. Diabetes 47: 487-489, 1998.
[0030657]21245.Mammes, O.; Betoulle, D.; Aubert, R.; Herbeth, B.; Siest, G.; Fumeron, F.: Association of the G-2548A polymorphism in the 5-prime region of the LEP gene with overweight. Ann. Hum. Genet. 64: 391-394, 2000.
[0030658]21246.Mancuso, P.; Gottschalk, A.; Phare, S. M.; Peters-Golden, M.; Lukacs, N. W.; Huffnagle, G. B.: Leptin-deficient mice exhibit impaired host defense in Gram-negative pneumonia. J. Immun. 168: 4018-4024, 2002.
[0030659]21247.Mantzoros, C. S.; Flier, J. S.; Rogol, A. D.: A longitudinal assessment of hormonal and physical alterations during normal puberty in boys. v. rising leptin levels may signal the onset of puberty. J. Clin. Endocr. Metab. 82: 1066-1070, 1997.
[0030660]21248.Masuzaki, H.; Ogawa, Y.; Isse, N.; Satoh, N.; Okazaki, T.; Shigemoto, M.; Mori, K.; Tamura, N.; Hosoda, K.; Yoshimasa, Y.; Jingami, H.; Kawada, T.; Nakao, K.: Human obese gene expression: adipocyte-specific expression and regional differences in the adipose tissue. Diabetes 44: 855-858, 1995.
[0030661]21249.Masuzaki, H.; Ogawa, Y.; Sagawa, N.; Hosoda, K.; Matsumoto, T.; Mise, H.; Nishimura, H.; Yoshimasa, Y.; Tanaka, I.; Mori, T.; Nakao, K.: Nonadipose tissue production of leptin: leptin as a novel placenta-derived hormone in humans. Nature Med. 3: 1029-1033, 1997.
[0030662]21250.Matkovic, V.; Ilich, J. Z.; Badenhop, N. E.; Skugor, M.; Clairmont, A.; Klisovic, D.; Landoll, J. D.: Gain in body fat is inversely related to the nocturnal rise in serum leptin level in young females. J. Clin. Endocr. Metab. 82: 1368-1372, 1997.
[0030663]21251.Matkovic, V.; Ilich, J. Z.; Skugor, M.; Badenhop, N. E.; Goel, P.; Clairmont, A.; Klisovic, D.; Nahhas, R. W.; Landoll, J. D.: Leptin is inversely related to age at menarche in human females. J. Clin. Endocr. Metab. 82: 3239-3245, 1997.
[0030664]21252.Matsuda, J.; Yokota, I.; Iida, M.; Murakami, T.; Naito, E.; Ito, M.; Shima, K.; Kuroda, Y.: Serum leptin concentration in cord blood: relationship to birth weight and gender. J. Clin. Endocr. Metab. 82: 1642-1644, 1997.
[0030665]21253.Miller, S. G.; De Vos, P.; Guerre-Millo, M.; Wong, K.; Hermann, T.; Staels, B.; Briggs, M. R.; Auwerx, J.: The adipocyte specific transcription factor C/EBP-alpha modulates human ob gene expression. Proc. Nat. Acad. Sci. 93: 5507-5511, 1996.
[0030666]21254.Minokoshi, Y.; Kim, Y.-B.; Peroni, O. D.; Fryer, L. G. D.; Muller, C.; Carling, D.; Kahn, B. B.: Leptin stimulates fatty-acid oxidation by activating AMP-activated protein kinase. Nature 415: 339-343, 2002.
[0030667]21255.Moffett, S.; Martinson, J.; Shriver, M. D.; Deka, R.; McGarvey, S. T.; Barrantes, R.; Ferrell, R. E.: Genetic diversity and evolution of the human leptin locus tetranucleotide repeat. Hum. Genet. 110: 412-417, 2002.
[0030668]21256.Montague, C. T.; Farooqi, I. S.; Whitehead, J. P.; Soos, M. A.; Rau, H.; Wareham, N. J.; Sewter, C. P.; Digby, J. E.; Mohammed, S. N.; Hurst, J. A.; Cheetham, C. H.; Earley, A. R.; Barnett, A. H.; Prins, J. B.; O'Rahilly, S.: Congenital leptin deficiency is associated with severe early-onset obesity in humans. Nature 387: 903-908, 1997.
[0030669]21257.Muzzin, P.; Eisensmith, R. C.; Copeland, K. C.; Woo, S. L. C. : Correction of obesity and diabetes in genetically obese mice by leptin gene therapy. Proc. Nat. Acad. Sci. 93: 14804-14808, 1996.
[0030670]21258.Kiefer, M. C.; Tucker, J. E.; Joh, R.; Landsberg, K. E.; Saltman, D.; Barr, P. J.: Identification of a second human subtilisin-like protease gene in the fes/fps region of chromosome 15. DNA Cell Biol. 10: 757-769, 1991.
[0030671]21259.Amiel, J.; Audollent, S.; Joly, D.; Dureau, P.; Salomon, R.; Tellier, A.-L.; Auge, J.; Bouissou, F.; Antignac, C.; Gubler, M.-C.; Eccles, M. R.; Munnich, A.; Vekemans, M.; Lyonnet, S.; Attie-Bitach, T.: PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism. Europ. J. Hum. Genet. 8: 820-826, 2000.
[0030672]21260.Dehbi, M.; Ghahremani, M.; Lechner, M.; Dressler, G.; Pelletier, J.: The paired-box transcription factor, PAX2, positively modulates expression of the Wilms' tumor suppressor gene. Oncogene 13: 447-453, 1996.
[0030673]21261.Devriendt, K.; Matthijs, G.; Van Damme, B.; Van Caesbroeck, D.; Eccles, M.; Vanrenterghem, Y.; Fryns, J.-P.; Leys, A.: Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330). Hum. Genet. 103: 149-153, 1998.
[0030674]21262.Dressler, G. R.; Deutsch, U.; Chowdhury, K.; Nornes, H. O.; Gruss, P.: Pax2, a new murine paired-box-containing gene and its expression in the developing excretory system. Development 109: 787-795, 1990.
[0030675]21263.Ford, B.; Rupps, R.; Lirenman, D.; Van Allen, M. I.; Farquharson, D.; Lyons, C.; Friedman, J. M.: Renal-coloboma syndrome: prenatal detection and clinical spectrum in a large family. Am. J. Med. Genet. 99: 137-141, 2001.
[0030676]21264.Keller, S. A.; Jones, J. M.; Boyle, A.; Barrow, L. L.; Killen, P. D.; Green, D. G.; Kapousta, N. V.; Hitchcock, P. F.; Swank, R. T.; Meisler, M. H.: Kidney and retinal defects (Krd), a transgene-induced mutation with a deletion of mouse chromosome 19 that includes the Pax2 locus. Genomics 23: 309-320, 1994.
[0030677]21265.Narahara, K.; Baker, E.; Ito, S.; Yokoyama, Y.; Yu, S.; Hewitt, D.; Sutherland, G. R.; Eccles, M. R.; Richards, R. I.: Localisation of a 10q breakpoint within the PAX2 gene in a patient with a de novo t(10;13) translocation and optic nerve coloboma-renal disease. J. Med. Genet. 34: 213-216, 1997.
[0030678]21266.Pilz, A. J.; Povey, S.; Gruss, P.; Abbott, C. M.: Mapping of the human homologs of the murine paired-box-containing genes. Mammalian Genome 4: 78-82, 1993.
[0030679]21267.Favor, J.; Sandulache, R.; Neuhauser-Klaus, A.; Pretsch, W.; Chatterjee, B.; Senft, E.; Wurst, W.; Blanquet, V.; Grimes, P.; Sporle, R.; Schughart, K.: The mouse Pax2(1Neu) mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney. Proc. Nat. Acad. Sci. 93: 13870-13875, 1996.
[0030680]21268.Seawright, A.; Fletcher, J. M.; Fantes, J. A.; Morrison, H.; Porteous, D. J.; Li, S. S.-L.; Hastie, N. D.; Van Heyningen, V.: Analysis of WAGR deletions and related translocations with genespecific DNA probes, using FACS-selected cell hybrids. Somat. Cell Molec. Genet. 14: 21-30, 1988.
[0030681]21269.Huerre, C.; Despoisse, S.; Gilgenkrantz, S.; Lenoir, G. M.; Junien, C.: c-Ha-ras1 is not deleted in aniridia-Wilms' tumour association. Nature 305: 638-641, 1983.
[0030682]21270.Liou, G. I.; Ma, D.-P.; Yang, Y.-W.; Geng, L.; Zhu, C.; Baehr, W.: Human interstitial retinoid-binding protein: gene structure and primary sequence. J. Biol. Chem. 264: 8200-8206, 1989.
[0030683]21271.Nakamura, Y.; Lathrop, M.; Bragg, T.; Leppert, M.; O'Connell, P.; Jones, C.; Lalouel, J. M.; White, R.: An extended genetic linkage map of markers for human chromosome 10. Genomics 3: 389-392, 1988.
[0030684]21272.Heitman, J.; Agre, P.: A new face of the rhesus antigen. Nature Genet. 26: 258-259, 2000.
[0030685]21273.Marini, A.-M.; Matassi, G.; Raynal, V.; Andre, B.; Cartron, J.-P.; Cherif-Zahar, B.: The human Rhesus-associated RhAG protein and a kidney homologue promote ammonium transport in yeast. Nature Genet. 26: 341-344, 2000.
[0030686]21274.Sap, J.; Munoz, A.; Damm, K.; Goldberg, Y.; Ghysdael, J.; Leutz, A.; Beug, H.; Vennstrom, B.: The c-erb-A protein is a high-affinity receptor for thyroid hormone. Nature 324: 635-640, 1986.
[0030687]21275.Carrere, N.; Leblanc, R. M.; Begueret, J.; Blouin, P.; Cheyrou, A.: A new mutation of exon 5 of the P53 gene in breast cancer. Hum. Molec. Genet. 2: 1075, 1993.
[0030688]21276.Walker, R. L.; Anziano, P.; Meltzer, P. S.: A PAC containing the human mitochondrial DNA polymerase gamma gene (POLG) maps to chromosome 15q25. Genomics 40: 376-378, 1997.
[0030689]21277.Zullo, S. J.; Butler, L.; Zahorchak, R. J.; Macville, M.; Wilkes, C.; Merril, C. R.: Localization by fluorescence in situ hybridization (FISH) of human mitochondrial polymerase gamma (POLG) to human chromosome band 15q24-q26, and of mouse mitochondrial polymerase gamma (Polg) to mouse chromosome band 7E, with confirmation by direct sequence analysis of bacterial artificial chromosomes (BACs). Cytogenet. Cell Genet. 78: 281-284, 1997.
[0030690]21278.Bayliss, W.; Starling, E. H.: The mechanism of pancreatic secretion. J. Physiol. (London) 28: 325-353, 1902.
[0030691]21279.Kopin, A. S.; Wheeler, M. B.; Leiter, A. B.: Secretin: structure of the precursor and tissue distribution of the mRNA. Proc. Nat. Acad. Sci. 87: 2299-2303, 1990.
[0030692]21280.Marinelli, R. A.; Pham, L.; Agre, P.; LaRusso, N. F.: Secretin promotes osmotic water transport in rat cholangiocytes by increasing aquaporin-1 water channels in plasma membrane. J. Biol. Chem. 272: 12984-12988, 1997.
[0030693]21281.Peel, A. L.; Rao, R. V.; Cottrell, B. A.; Hayden, M. R.; Ellerby, L. M.; Bredesen, D. E.: Double-stranded RNA-dependent protein kinase, PKR, binds preferentially to Huntington's disease (HD) transcripts and is activated in HD tissue. Hum. Molec. Genet. 10: 1531-1538, 2001.
[0030694]21282.Squire, J.; Meurs, E. F.; Chong, K. L.; McMillan, N. A. J.; Hovanessian, A. G.; Williams, B. R. G.: Localization of the human interferon-induced, ds-RNA activated p68 kinase gene (PRKR) to chromosome 2p21-p22. Genomics 16: 768-770, 1993.
[0030695]21283.Taylor, D. R.; Shi, S. T.; Romano, P. R.; Barber, G. N.; Lal, M. M. C.: Inhibition of the interferon-inducible protein kinase PKR by HCV E2 protein. Science 285: 107-110, 1999.
[0030696]21284.Brott, B. K.; Alessandrini, A.; Largaespada, D. A.; Copeland, N. G.; Jenkins, N. A.; Crews, C. M.; Erikson, R. L.: MEK2 is a kinase related to MEK1 and is differentially expressed in murine tissues. Cell Growth Differ. 4: 921-929, 1993.
[0030697]21285.Crews, C. M.; Alessandrini, A.; Erikson, R. L.: The primary structure of MEK, a protein kinase that phosphorylates the ERK gene product. Science 258: 478-480, 1992.
[0030698]21286.Favata, M. F.; Horiuchi, K. Y.; Manos, E. J.; Daulerio, A. J.; Stradley, D. A.; Feeser, W. S.; Van Dyk, D. E.; Pitts, W. J.; Earl, R. A.; Hobbs, F.; Copeland, R. A.; Magolda, R. L.; Scherle, P. A.; Trzaskos, J. M.: Identification of a novel inhibitor of mitogen-activated protein kinase kinase. J. Biol. Chem. 273: 18623-18632, 1998.
[0030699]21287.Meloche, S.; Gopalbhai, K.; Beatty, B. G.; Scherer, S. W.; Pellerin, J.: Chromosome mapping of the human genes encoding the MAP kinase kinase MEK1 (MAP2K1) to 15q21 and MEK2 (MAP2K2) to 7q32. Cytogenet. Cell Genet. 88: 249-252, 2000.
[0030700]21288.Orth, K.; Palmer, L. E.; Bao, Z. Q.; Stewart, S.; Rudolph, A. E.; Bliska, J. B.; Dixon, J. E.: Inhibition of the mitogen-activated protein kinase kinase superfamily by a Yersinia effector. Science 285: 1920-1923, 1999.
[0030701]21289.Perry, R. L. S.; Parker, M. H.; Rudnicki, M. A.: Activated MEK1 binds the nuclear MyoD transcriptional complex to repress transactivation. Molec. Cell 8: 291-301, 2001.
[0030702]21290.Pleschka, S.; Wolff, T.; Ehrhardt, C.; Hobom, G.; Planz, O.; Rapp, U. R.; Ludwig, S.: Influenza virus propagation is impaired by inhibition of the Raf/MEK/ERK signalling cascade. Nature Cell Biol. 3: 301-305, 2001.
[0030703]21291.Rampoldi, L.; Zimbello, R.; Bortoluzzi, S.; Tiso, N.; Valle, G.; Lanfranchi, G.; Danieli, G. A.: Chromosomal localization of four MAPK signaling cascade genes: MEK1, MEK3, MEK4 and MEKK5. Cytogenet. Cell Genet. 78: 301-303, 1997.
[0030704]21292.Ryan, K. M.; Ernst, M. K.; Rice, N. R.; Vousden, K. H.: Role of NF-kappa-B in p53-mediated programmed cell death. Nature 404: 892-897, 2000.
[0030705]21293.Sebolt-Leopold, J. S.; Dudley, D. T.; Herrera, R.; Van Becelaere, K.; Wiland, A.; Gowan, R. C.; Tecle, H.; Barrett, S. D.; Bridges, A.; Przybranowski, S.; Leopold, W. R.; Saltiel, A. R.: Blockade of the MAP kinase pathway suppresses growth of colon tumors in vivo. Nature Med. 5: 810-816, 1999.
[0030706]21294.Seger, R.; Krebs, E. G.: The MAPK signaling cascade. FASEB J. 9: 726-735, 1995.
[0030707]21295.Seger, R.; Seger, D.; Lozeman, F. J.; Ahn, N. G.; Graves, L. M.; Campbell, J. S.; Ericsson, L.; Harrylock, M.; Jensen, A. M.; Krebs, E. G.: Human T-cell mitogen-activated protein kinase kinases are related to yeast signal transduction kinases. J. Biol. Chem. 267: 25628-25631, 1992.
[0030708]21296.Zheng, C. F.; Guan, K. L.: Cloning and characterization of two distinct human extracellular signal-regulated kinase activator kinases, MEK1 and MEK2. J. Biol. Chem. 268: 11435-11439, 1993.
[0030709]21297.White, P. S.; Maris, J. M.; Beltinger, C.; Sulman, E.; Marshall, H. N.; Fujimori, M.; Kaufman, B. A.; Biegel, J. A.; Allen, C.; Hilliard, C.; Valentine, M. B.; Look, A. T.; Enomoto, H.; Sakiyama, S.; Brodeur, G. M.: A region of consistent deletion in neuroblastoma maps within human chromosome 1p36.2-36.3. Proc. Nat. Acad. Sci. 92: 5520-5524, 1995.
[0030710]21298.Deng, Z.; Morse, J. H.; Slager, S. L.; Cuervo, N.; Moore, K. J.; Venetos, G.; Kalachikov, S.; Cayanis, E.; Fischer, S. G.; Barst, R. J.; Hodge, S. E.; Knowles, J. A.: Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene. Am. J. Hum. Genet. 67: 737-744, 2000.
[0030711]21299.International PPH Consortium; Lane, K. B.; Machado, R. D.; Pauciulo, M. W.; Thomson, J. R.; Phillips, J. A., III; Loyd, J. E.; Nichols, W. C.; Trembath, R. C.: Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. Nature Genet. 26: 81-84, 2000.
[0030712]21300.Amin, R. S.; Wert, S. E.; Baughman, R. P.; Tomashevski, J. F., Jr.; Nogee, L. M.; Brody, A. S.; Hull, W. M.; Whitsett, J. A.: Surfactant protein deficiency in familial interstitial lung disease. J. Pediat. 139: 85-92, 2001.
[0030713]21301.Glasser, S. W.; Burhans, M. S.; Korfhagen, T. R.; Na, C.-L.; Sly, P. D.; Ross, G. F.; Ikegami, M.; Whitsett, J. A.: Altered stability of pulmonary surfactant in SP-C-deficient mice. Proc. Nat. Acad. Sci. 98: 6366-6371, 2001.
[0030714]21302.Hussain, S. P.; Raja, K.; Amstad, P. A.; Sawyer, M.; Trudel, L. J.; Wogan, G. N.; Hofseth, L. J.; Shields, P. G.; Billiar, T. R.; Trautwein, C.; Hohler, T.; Galle, P. R.; Phillips, D. H.; Markin, R.; Marrogi, A. J.; Harris, C. C.: Increased p53 mutation load in nontumorous human liver of Wilson disease and hemochromatosis: oxyradical overload diseases. Proc. Nat. Acad. Sci. 97: 12770-12775, 2000.
[0030715]21303.Iavarone, A.; Matthay, K. K.; Steinkirchner, T. M.; Israel, M. A.: Germ-line and somatic p53 gene mutations in multifocal osteogenic sarcoma. Proc. Nat. Acad. Sci. 89: 4207-4209, 1992.
[0030716]21304.Iggo, R.; Gatter, K.; Bartek, J.; Lane, D.; Harris, A. L.: Increased expression of mutant forms of p53 oncogene in primary lung cancer. Lancet 335: 675-679, 1990.
[0030717]21305.Isobe, M.; Emanuel, B. S.; Givol, D.; Oren, M.; Croce, C. M.: Localization of gene for human p53 tumour antigen to band 17p13. Nature 320: 84-85, 1986.
[0030718]21306.Jeffrey, P. D.; Gorina, S.; Pavletich, N. P.: Crystal structure of the tetramerization domain of the p53 tumor suppressor at 1.7 angstroms. Science 267: 1498-1502, 1995.
[0030719]21307.Jenkins, J. R.; Rudge, K.; Chumakov, P.; Currie, G. A.: The cellular oncogene p53 can be activated by mutagenesis. Nature 317: 816-818, 1985.
[0030720]21308.Jimenez, G. S.; Nister, M.; Stommel, J. M.; Beeche, M.; Barcarse, E. A.; Zhang, X.-Q.; O'Gorman, S.; Wahl, G. M.: A transactivation-deficient mouse model provides insights into Trp53 regulation and function. Nature Genet. 26: 37-43, 2000.
[0030721]21309.Jonkers, J.; Meuwissen, R.; van der Gulden, H.; Peterse, H.; van der Valk, M.; Berns, A.: Synergistic tumor suppressor activity of BRCA2 and p53 in a conditional mouse model for breast cancer. Nature Genet. 29: 418-425, 2001.
[0030722]21310.Kaelbling, M.; Burk, R. D.; Atkin, N. B.; Johnson, A. B.; Klinger, H. P.: Loss of heterozygosity on chromosome 17p and mutant p53 in HPV-negative cervical carcinomas. Lancet 340: 140-142, 1992.
[0030723]21311.Keller, D. M.; Zeng, X.; Wang, Y.; Zhang, Q. H.; Kapoor, M.; Shu, H.; Goodman, R.; Lozano, G.; Zhao, Y.; Lu, H.: A DNA damage-induced p53 serine 392 kinase complex contains CK2, hSpt16, and SSRP1. Molec. Cell 283-292, 2001.
[0030724]21312.Kemp, C. J.; Wheldon, T.; Balmain, A.: p53-deficient mice are extremely susceptible to radiation-induced tumorigenesis. Nature Genet. 8: 66-69, 1994.
[0030725]21313.Krawczak, M.; Smith-Sorensen, B.; Schmidtke, J.; Kakkar, V. V.; Cooper, D. N.; Hovig, E.: Somatic spectrum of cancer-associated single basepair substitutions in the TP53 gene is determined mainly by endogenous mechanisms of mutation and by selection. Hum. Mutat. 5: 48-57, 1995.
[0030726]21314.Lamb, P.; Crawford, L.: Characterization of the human p53 gene. Molec. Cell. Biol. 6: 1379-1385, 1986.
[0030727]21315.Latronico, A. C.; Pinto, E. M.; Domenice, S.; Fragoso, M. C. B. V.; Martin, R. M.; Zerbini, M. C.; Lucon, A. M.; Mendonca, B. B.: An inherited mutation outside the highly conserved DNA-binding domain of the p53 tumor suppressor protein in children and adults with sporadic adrenocortical tumors. J. Clin. Endocr. Metab. 86: 4970-4973, 2001.
[0030728]21316.Lavigueur, A.; Maltby, V.; Mock, D.; Rossant, J.; Pawson, T.; Bernstein, A.: High incidence of lung, bone, and lymphoid tumors in transgenic mice overexpressing mutant alleles of the p53 oncogene. Molec. Cell. Biol. 9: 3982-3991, 1989.
[0030729]21317.Law, J. C.; Strong, L. C.; Chidambaram, A.; Ferrell, R. E.: A germ line mutation in exon 5 of the p53 gene in an extended cancer family. Cancer Res. 51: 6385-6387, 1991.
[0030730]21318.Lee, J. M.; Bernstein, A.: p53 mutations increase resistance to ionizing radiation. Proc. Nat. Acad. Sci. 90: 5742-5746, 1993.
[0030731]21319.Levine, A. J.: p53, the cellular gatekeeper for growth and division. Cell 88: 323-331, 1997.
[0030732]21320.Levine, A. J.; Momand, J.; Finlay, C. A.: The p53 tumour suppressor gene. Nature 351: 453-456, 1991.
[0030733]21321.Li, M.; Chen, D.; Shiloh, A.; Luo, J.; Nikolaev, A. Y.; Qin, J.; Gu, W.: Deubiquitination of p53 by HAUSP is an important pathway for p53 stabilization. Nature 416: 648-653, 2002. 100. Lu, H.; Levine, A. J.: Human TAFII31 protein is a transcriptional coactivator of the p53 protein. Proc. Nat. Acad. Sci. 92: 5154-5158, 1995. 101. Luo, J.; Nikolaev, A. Y.; Imai, S.; Chen, D.; Su, F.; Shiloh, A.; Guarente, L.; Gu, W.: Negative control of p53 by Sir2-alpha promotes cell survival under stress. Cell 107: 137-148, 2001. 102. Luo, J.; Su, F.; Chen, D.; Shiloh, A.; Gu, W.: Deacetylation of p53 modulates its effect on cell growth and apoptosis. Nature 408: 377-381, 2000. 103. Malkin, D.; Jolly, K. W.; Barbier, N.; Look, A. T.; Friend, S. H.; Gebhardt, M. C.; Andersen, T. I.; Borresen, A.-L.; Li, F. P.; Garber, J.; Strong, L. C.: Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms. New Eng. J. Med. 326: 1309-1315, 1992. 104. Malkin, D.; Li, F. P.; Strong, L. C.; Fraumeni, J. F., Jr.; Nelson, C. E.; Kim, D. H.; Kassel, J.; Gryka, M. A.; Bischoff, F. Z.; Tainsky, M. A.; Friend, S. H.: Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science 250: 1233-1238, 1990. 105. Marin, M. C.; Jost, C. A.; Brooks, L. A.; Irwin, M. S.; O'Nions, J.; Tidy, J. A.; James, N.; McGregor, J. M.; Harwood, C. A.; Yulug, I. G.; Vousden, K. H.; Allday, M. J.; Gusterson, B.; Ikawa, S.; Hinds, P. W.; Crook, T.; Kaelin, W. G., Jr. A common polymorphism acts as an intragenic modifier of mutant p53 behaviour. Nature Genet. 25: 47-54, 2000. 106. Marino, S.; Vooijs, M.; van der Gulden, H.; Jonker, J.; Berns, A.: Induction of medulloblastomas in p53-null mutant mice by somatic inactivation of Rb in the external granular layer cells of the cerebellum. Genes Dev. 14: 994-1004, 2000. 107. Masuda, H.; Miller, C.; Koeffler, H. P.; Battifora, H.; Cline, M. J.: Rearrangement of the p53 gene in human osteogenic sarcomas. Proc. Nat. Acad. Sci. 84: 7716-7719, 1987. 108. Mathupala, S. P.; Heese, C.; Pedersen, P. L.: Glucose catabolism in cancer cells: the type II hexokinase promoter contains functionally active response elements for the tumor suppressor p53. J. Biol. Chem. 272: 22776-22780, 1997. 109. Mazoyer, S.; Lalle, P.; Moyret-Lalle, C.; Marcais, C.; Schraub, S.; Frappaz, D.; Sobol, H.; Ozturk, M.: Two germ-line mutations affecting the same nucleotide at codon 257 of p53 gene, a rare site for mutations. Oncogene 9: 1237-1239, 1994. 110. McBride, O. W.; Merry, D.; Givol, D.: The gene for human p53 cellular tumor antigen is located on chromosome 17 short arm (17p13). Proc. Nat. Acad. Sci. 83: 130-134, 1986. 111. McBride, O. W.; Merry, D. E.; Oren, M.; Givol, D.: Human p53 cellular tumor antigen is on chromosome 17p13. (Abstract) Cytogenet. Cell Genet. 40: 694-695, 1985. 112. Metzger, A. K.; Sheffield, V. C.; Duyk, G.; Daneshvar, L.; Edwards, M. S. B.; Cogen, P. H.: Identification of a germ-line mutation in the p53 gene in a patient with an intracranial ependymoma. Proc. Nat. Acad. Sci. 88: 7825-7829, 1991. 113. Miller, C.; Mohandas, T.; Wolf, D.; Prokocimer, M.; Rotter, V.; Koeffler, H. P.: Human p53 gene localized to short arm of chromosome 17. Nature 319: 783-784, 1986. 114. Moll, U. M.; Riou, G.; Levine, A. J.: Two distinct mechanisms alter p53 in breast cancer: mutation and nuclear exclusion. Proc. Nat. Acad. Sci. 89: 7262-7266, 1992. 115. Monpezat, J. P.; Delattre, O.; Bernard, A.; Grunwald, D.; Remvikos, Y.; Muleris, M.; Salmon, R. J.; Frelat, G.; Dutrillaux, B.; Thomas, G.: Loss of alleles on chromosome 18 and on the short arm of chromosome 17 in polyploid colorectal carcinomas. Int. J. Cancer 41: 404-408, 1988. 116. Mulligan, L. M.; Matlashewski, G. J.; Scrable, H. J.; Cavenee, W. K.: Mechanisms of p53 loss in human sarcomas. Proc. Nat. Acad. Sci. 87: 5863-5867, 1990. 117. Nakamura, T.; Pichel, J. G.; Williams-Simons, L.; Westphal, H. : An apoptotic defect in lens differentiation caused by human p53 is rescued by a mutant allele. Proc. Nat. Acad. Sci. 92: 6142-6146, 1995. 118. Neugut, A. I.; Santos, J.: The association between cancers of the small and large bowel. Cancer Epidemiol. Biomarkers Prev. 2: 551-553, 1993. 119. Nicol, C. J.; Harrison, M. L.; Laposa, R. R.; Gimelshtein, I. L.; Wells, P. G.: A teratologic suppressor role for p53 in benzo[a]pyrene-treated transgenic p53-deficient mice. Nature Genet. 10: 181-187, 1995. 120. Nigro, J. M.; Baker, S. J.; Preisinger, A. C.; Jessup, J. M.; Hostetter, R.; Cleary, K.; Bigner, S. H.; Davidson, N.; Baylin, S.; Devilee, P.; Glover, T.; Collins, F. S.; Weston, A.; Modali, R.; Harris, C. C.; Vogelstein, B.: Mutations in the p53 gene occur in diverse human tumour types. Nature 342: 705-708, 1989. 121. Oda, T.; Tsuda, H.; Scarpa, A.; Sakamoto, M.; Hirohashi, S.: p53 gene mutation spectrum in hepatocellular carcinoma. Cancer Res. 52: 6358-6364, 1992. 122. Oliner, J. D.; Kinzler, K. W.; Meltzer, P. S.; George, D. L.; Vogelstein, B.: Amplification of a gene encoding a p53-associated protein in human sarcomas. Nature 358: 80-83, 1992. 123. Olivier, M.; Eeles, R.; Hollstein, M.; Khan, M. A.; Harris, C. C.; Hainaut, P.: The IARC TP53 database: new online mutation analysis and recommendations to users. Hum. Mutat. 19: 607-614, 2002. 124. Ollmann, M.; Young, L. M.; Di Como, C. J.; Karim, F.; Belvin, M.; Robertson, S.; Whittaker, K.; Demsky, M.; Fisher, W. W.; Buchman, A.; Duyk, G.; Friedman, L.; Prives, C.; Kopczysnki, C.: Drosophila p53 is a structural and functional homolog of the tumor suppressor p53. Cell 101: 91-101, 2000. 125. Olschwang, S.; Laurent-Puig, P.; Vassal, A.; Salmon, R.-J.; Thomas, G.: Characterization of a frequent polymorphism in the coding sequence of the Tp53 gene in colonic cancer patients and a control population. Hum. Genet. 86: 369-370, 1991. 126. Parsa, C. F.; Hoyt, C. S.; Lesser, R. L.; Weinstein, J. M.; Strother, C. M.; Muci-Mendoza, R.; Ramella, M.; Manor, R. S.; Fletcher, W. A.; Repka, M. X.; Garrity, J. A.; Ebner, R. N.; Monteiro, M. L. R.; McFadzean, R. M.; Rubtsova, I. V.; Hoyt, W. F.: Spontaneous regression of optic gliomas: thirteen cases documented by serial neuroimaging. Arch. Ophthal. 119: 516-529, 2001. 127. Patel, P.; Stephenson, J.; Scheuer, P. J.; Francis, G. E.: p53 codon 249-ser mutations in hepatocellular carcinoma patients with low aflatoxin exposure. (Letter) Lancet 339: 881, 1992. 128. Pavletich, N. P.; Chambers, K. A.; Pabo, C. O.: The DNA-binding domain of p53 contains the four conserved regions and the major mutation hot spots. Genes Dev. 7: 2556-2564, 1993. 129. Pearson, M.; Carbone, R.; Sebastiani, C.; Cioce, M.; Fagioli, M.; Saito, S.; Higashimoto, Y.; Appella, E.; Minucci, S.; Pandolfi, P. P.; Pelicci, P. G.: PML regulates p53 acetylation and premature senescence induced by oncogenic Ras. Nature 406: 207-210, 2000. 130. Polyak, K.; Xia, Y.; Zweler, J. L.; Kinzler, K. W.; Vogelstein, B.: A model for p53-induced apoptosis. Nature 389: 300-305, 1997. 131. Potzsch, C.; Schaefer, H.-E.; Lubbert, M.: Familial and metachronous malignant lymphoma: absence of constitutional p53 mutations. Am. J. Hemat. 62: 144-149, 1999. 132. Raj, K.; Ogston, P.; Beard, P.: Virus-mediated killing of cells that lack p53 activity. Nature 412: 914-917, 2001. Note: Addendum: Nature 416: 202 only, 2002. 133. Raman, V.; Martensen, S. A.; Reisman, D.; Evron, E.; Odenwald, W. F.; Jaffee, E.; Marks, J.; Sukumar, S.: Compromised HOXA5 function can limit p53 expression in human breast tumours. Nature 405: 974-978, 2000. 134. Reilly, K. M.; Loisel, D. A.; Bronson, R. T.; McLaughlin, M. E.; Jacks, T.: Nf1;Trp53 mutant mice develop glioblastoma with evidence of strain-specific effects. Nature Genet. 26: 109-113, 2000. 135. Reisman, D.; Balint, E.; Loging, W. T.; Rotter, V.; Almon, E. : A novel transcript encoded within the 10-kb first intron of the human p53 tumor suppressor gene (D17S2179E) is induced during differentiation of myeloid leukemia cells. Genomics 38: 364-370, 1996. 136. Reisman, D.; Greenberg, M.; Rotter, V.: Human p53 oncogene contains one promoter upstream of exon 1 and a second, stronger promoter within intron 1. Proc. Nat. Acad. Sci. 85: 5146-5150, 1988. 137. Ribeiro, R. C.; Sandrini, F.; Figueiredo, B.; Zambetti, G. P.; Michalkiewicz, E.; Lafferty, A. R.; DeLacerda, L.; Rabin, M.; Cadwell, C.; Sampaio, G.; Cat, I.; Stratakis, C. A.; Sandrini, R.: An inherited p53 mutation that contributes in a tissue-specific manner to pediatric adrenal cortical carcinoma. Proc. Nat. Acad. Sci. 98: 9330-9335, 2001. 138. Rideout, W. M., III; Coetzee, G. A.; Olumi, A. F.; Jones, P. A.: 5-Methylcytosine as an endogenous mutagen in the human LDL receptor and p53 genes. Science 249: 1288-1290, 1990. 139. Rodrigues, N. R.; Rowan, A.; Smith, M. E. F.; Kerr, I. B.; Bodmer, W. F.; Gannon, J. V.; Lane, D. P.: p53 mutations in colorectal cancer. Proc. Nat. Acad. Sci. 87: 7555-7559, 1990. 140. Romano, J. W.; Ehrhart, J. C.; Duthu, A.; Kim, C. M.; Appella, E.; May, P.: A mutation in the p53 gene of a human osteosarcoma cell line. (Abstract) Am. J. Hum. Genet. 45 (suppl.): A32, 1989. 141. Roth, J. A.; Nguyen, D.; Lawrence, D. D.; Kemp, B. L.; Carrasco, C. H.; Ferson, D. Z.; Hong, W. K.; Komaki, R.; Lee, J. J.; Nesbitt, J. C.; Pisters, K. M. W.; Putnam, J. B.; Schea, R.; Shin, D. M.; Walsh, G. L.; Dolormente, M. M.; Han, C.-I.; Martin, F. D.; Yen, N.; Xu, K.; Stephens, L. C.; McDonnell, T. J.; Mukhopadhyay, T.; Cai, D.: Retrovirus-mediated wild-type p53 gene transfer to tumors of patients with lung cancer. Nature Med. 2: 985-990, 1996. 142. Rowley, J. D.: Personal Communication. Chicago, Ill. 1/3/1986. 143. Rutherford, J.; Chu, C. E.; Duddy, P. M.; Charlton, R. S.; Chumas, P.; Taylor, G. R.; Lu, X.; Barnes, D. M.; Camplejohn, R. S.: Investigations on a clinically and functionally unusual and novel germline p53 mutation. Brit. J. Cancer 86: 1592-1596, 2002. 144. Ryan, K. M.; Ernst, M. K.; Rice, N. R.; Vousden, K. H.: Role of NFkappa-B in p53-mediated programmed cell death. Nature 404: 892-897, 2000. 145. Sah, V. P.; Arradi, L. D.; Mulligan, G. J.; Williams, B. O.; Bronson, R. T.; Jacks, T.: A subset of p53-deficient embryos exhibit exencephaly. Nature Genet. 10: 175-180, 1995. 146. Santibanez-Koref, M. F.; Birch, J. M.; Hartley, A. L.; Morris Jones, P. H.; Craft, A. W.; Eden, T.; Crowther, D.; Kelsey, A. M.; Harris, M.: p53 germline mutations in Li-Fraumeni syndrome. Lancet 338: 1490-1491, 1991. 147. Schiffer, D.; Cavalla, P.; Di Sapio, A.; Giordana, M. T.; Mauro, A.: Mutations and immunohistochemistry of p53 and proliferation markers in astrocytic tumors of childhood. Child's Nerv. Syst. 11: 517-522, 1995. 148. Schmitt, C. A.; Fridman, J. S.; Yang, M.; Lee, S.; Baranov, E.; Hoffman, R. M.; Lowe, S. W.: A senescence program controlled by p53 and p16-INK4a contributes to the outcome of cancer therapy. Cell 109: 335-346, 2002. 149. Sedlacek, Z.; Kodet, R.; Kriz, V.; Seemanova, E.; Vodvarka, P.; Wilgenbus, P.; Mares, J.; Poustka, A.; Goetz, P.: Two Li-Fraumeni syndrome families with novel germline p53 mutations: loss of the wildtype p53 allele in only 50% of tumours. Brit. J. Cancer 77: 1034-1039, 1998. 150. Shieh, S.-Y.; Ikeda, M.; Taya, Y.; Prives, C.: DNA damage-induced phosphorylation of p53 alleviates inhibition by MDM2. Cell 91: 325-334, 1997. 151. Sidransky, D.; Von Eschenbach, A.; Tsai, Y. C.; Jones, P.; Summerhayes, I.; Marshall, F.; Paul, M.; Green, P.; Hamilton, S. R.; Frost, P.; Vogelstein, B.: Identification of p53 gene mutations in bladder cancers and urine samples. Science 252: 706-709, 1991. 152. Smela, M. E.; Hamm, M. L.; Henderson, P. T.; Harris, C. M.; Harris, T. M.; Essigmann, J. M.: The aflatoxin B1 formamidopyrimidine adduct plays a major role in causing the types of mutations observed in human hepatocellular carcinoma. Proc. Nat. Acad. Sci. 99: 6655-6660, 2002. 153. Smith, H. S.: Personal Communication. San Francisco, Calif. 11/16/1993. 154. Smith-Sorensen, B.; Gebhardt, M. C.; Kloen, P.; McIntyre, J.; Aguilar, F.; Cerutti, P.; Borresen, A.-L.: Screening for TP53 mutations in osteosarcomas using constant denaturant gel electrophoresis (CDGE). Hum. Mutat. 2: 274-285, 1993. 155. Srivastava, S.; Zou, Z.; Pirollo, K.; Blattner, W.; Chang, E. H.: Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome. Nature 348: 747-749, 1990. 156. Storey, A.; Thomas, M.; Kalita, A.; Harwood, C.; Gardiol, D.; Mantovani, F.; Breuer, J.; Leigh, I. M.; Matlashewski, G.; Banks, L.: Role of a p53 polymorphism in the development of human papilloma-virus-associated cancer. Nature 393: 229-234, 1998. 157. Sun, Y.; Hegamyer, G.; Cheng, Y.-J.; Hildesheim, A.; Chen, J.-Y.; Chen, I.-H.; Cao, Y.; Yao, K.-T.; Colburn, N. H.: An infrequent point mutation of the p53 gene in human nasopharyngeal carcinoma. Proc. Nat. Acad. Sci. 89: 6516-6520, 1992. 158. Takahashi, T.; D'Amico, D.; Chiba, I.; Buchhagen, D. L.; Minna, J. D.: Identification of intronic point mutations as an alternative mechanism for p53 inactivation in lung cancer. J. Clin. Invest. 86: 363-369, 1990. 159. Takahashi, T.; Nau, M. M.; Chiba, I.; Birrer, M. J.; Rosenberg, R. K.; Vinocour, M.; Levitt, M.; Pass, H.; Gazdar, A. F.; Minna, J. D.: p53: a frequent target for genetic abnormalities in lung cancer. Science 246: 491-494, 1989. 160. Toguchida, J.; Yamaguchi, T.; Dayton, S. H.; Beauchamp, R. L.; Herrera, G. E.; Ishizaki, K.; Yamamuro, T.; Meyers, P. A.; Little, J. B.; Sasaki, M. S.; Weichselbaum, R. R.; Yandell, D. W.: Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma. New Eng. J. Med. 326: 1301-1308, 1992. 161. Tonisson, N.; Zernant, J.; Kurg, A.; Pavel, H.; Slavin, G.; Roomere, H.; Meiel, A.; Hainaut, P.; Metspalu, A.: Evaluating the arrayed primer extension resequencing assay of TP53 tumor suppressor gene. Proc. Nat. Acad. Sci. 99: 5503-5508, 2002. 162. Tyner, S. D.; Venkatachalam, S.; Choi, J.; Jones, S.; Ghebranious, N.; Igelmann, H.; Lu, X.; Soron, G.; Cooper, B.; Brayton, C.; Park, S. H.; Thompson, T.; Karsenty, G.; Bradley, A.; Donehower, L. A.: p53 mutant mice that display early ageing-associated phenotypes. Nature 415: 45-53, 2002. 163. Ueda, H.; Ullrich, S. J.; Gangemi, J. D.; Kappel, C. A.; Ngo, L.; Feitelson, M. A.; Jay, G.: Functional inactivation but not structural mutation of p53 causes liver cancer. Nature Genet. 9: 41-47, 1995. 164. Unger, T.; Nau, M. M.; Segal, S.; Minna, J. D.: p53: a transdominant regulator of transcription whose function is ablated by mutations occurring in human cancer. EMBO J. 11: 1383-1390, 1992. 165. vanTuinen, P.; Ledbetter, D. H.: Construction and utilization of a detailed somatic cell hybrid mapping panel for human chromosome 17: localization of an anonymous clone to the critical region of Miller-Dieker syndrome, deletion 17p13. (Abstract) Cytogenet. Cell Genet. 46: 708-709, 1987. 166. Varley, J. M.; McGowan, G.; Thorncroft, M.; Tricker, K. J.; Teare,, M. D.; Santibanez-Koref, M. F.; Houlston, R. S.; Martin, J.; Birch, J. M.; Evans, D. G. R.: An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53. J. Clin. Genet. 32: 942-945, 1995. 167. Varley, J. M.; McGown, G.; Thorncroft, M.; Cochrane, S.; Morrison, P.; Woll, P.; Kelsey, A. M.; Mitchell, E. L. D.; Boyle, J.; Birch, J. M.; Evans, D. G. R.: A previously undescribed mutation within the tetramerisation domain of TP53 in a family with Li-Fraumeni syndrome (sic). Oncogene 12: 2437-2442, 1996. 168. Vaziri, H.; Dessain, S. K.; Eaton, E. N.; Imai, S.-I.; Frye, R. A.; Pandita, T. K.; Guarente, L.; Weinberg, R. A.: hSIR2-SIRT1 functions as an NAD-dependent p53 deacetylase. Cell 107: 149-159, 2001. 169. Vogelstein, B.; Kinzler, K. W.: X-rays strike p53 again. Nature 370: 174-175, 1994. 170. Vogelstein, B.; Kinzler, K. W.: p53 function and dysfunction. Cell 70: 523-526, 1992. 171. Wheeler, J. M. D.; Warren, B. F.; Mortensen, N. J. M.; Kim, H. C.; Biddolph, S. C.; Elia, G.; Beck, N. E.; Williams, G. T.; Shepherd, N. A.; Bateman, A. C.; Bodmer, W. F.: An insight into the genetic pathway of adenocarcinoma of the small intestine. Gut 50: 218-223, 2002. 172. Yamanishi, Y.; Boyle, D. L.; Rosengren, S.; Green, D. R.; Zvaifler, N. J.; Firestein, G. S.: Regional analysis of p53 mutations in rheumatoid arthritis synovium. Proc. Nat. Acad. Sci. 99: 10025-10030, 2002. 173. Yu, A.; Fan, H.-Y.; Liao, D.; Bailey, A. D.; Weiner, A. M.: Activation of p53 or loss of the Cockayne syndrome group B repair protein causes metaphase fragility of human U1, U2, and 5S genes. Molec. Cell 5: 801-810, 2000. 174. Yu, J. L.; Rak, J. W.; Coomber B. L.; Hicklin, D. J.; Kerbel, R. S.: Effect of p53 status on tumor response to antiangiogenic therapy. Science 295: 1526-1528, 2002. 175. Zhang, W.; Funk, W. D.; Wright, W. E.; Shay, J. W.; Deisseroth, A. B.: Novel DNA binding of p53 mutants and their role in transcriptional activation. Oncogene 8: 2555-2559, 1993. 176. Zhang, Y.; Xiong, Y.: A p53 aminoterminal nuclear export signal inhibited by DNA damage-induced phosphorylation. Science 292: 1910-1915, 2001. 177. Zhu, C.; Mills, K. D.; Ferguson, D. O.; Lee, C.; Manis, J.; Fleming, J.; Gao, Y.; Morton, C. C.; Alt, F. W.: Unrepaired DNA breaks in p53-deficient cells lead to oncogenic gene amplification subsequent to translocations. Cell 109: 811-821, 2002. 178. Ziegler, A.; Jonason, A. S.; Leffell, D. J.; Simon, J. A.; Sharma, H. W.; Kimmelman, J.; Remington, L.; Jacks, T.; Brash, D. E.: Sunburn and p53 in the onset of skin cancer. Nature 372: 773-776, 1994.
[0030734]21322.Juppner, H.: Molecular cloning and characterization of a parathyroid hormone/parathyroid hormone-related peptide receptor: a member of an ancient family of G proteincoupled receptors. Curr. Opin. Nephrol. Hypertension 3: 371-378, 1994.
[0030735]21323.Juppner, H.; Abou-Samra, A.-B.; Freeman, M.; Kong, X. F.; Schipani, E.; Richards, J.; Kolakowski, L. F., Jr.; Hock, J.; Potts, J. T., Jr.; Kronenberg, H. M.; Segre, G. V.: A G protein-linked receptor for parathyroid hormone and parathyroid hormone-related peptide. Science 254: 1024-1026, 1991.
[0030736]21324.Karperien, M.; van der Harten, H. J.; van Schooten, R.; Farih-Sips, H.; den Hollander, N. S.; Kneppers, S. L. J.; Nijweide, P.; Papapoulos, S. E.; Lowik, C. W. G. M.: A frame-shift mutation in the type I parathyroid hormone (PTH)/PTH-related peptide receptor causing Blomstrand lethal osteochondrodysplasia. J. Clin. Endocr. Metab. 84: 3713-3720, 1999.
[0030737]21325.Lanske, B.; Karaplis, A. C.; Lee, K.; Luz, A.; Vortkamp, A.; Pirro, A.; Karperien, M.; Defize, L. H. K.; Ho, C.; Mulligan, R. C.; Abou-Samra, A.-B.; Juppner, H.; Segre, G. V.; Kronenberg, H. M.: PTH/PTHrP receptor in early development and Indian hedgehog-regulated bone growth. Science 273: 663-666, 1996.
[0030738]21326.Loshkajian, A.; Roume, J; Stanescu, V.; Delezoide, A.; Stampf, F.; Maroteaux, P.: Familial Blomstrand chrondrodysplasia with advanced skeletal maturation: further delineation. Am. J. Med. Genet. 71: 283-288, 1997.
[0030739]21327.Mahon, M. J.; Donowitz, M.; Yun, C. C.; Segre, G. V.: Na+/H+ exchanger regulatory factor 2 directs parathyroid hormone 1 receptor signalling. Nature 417: 858-861, 2002.
[0030740]21328.Manen, D.; Palmer, G.; Bonjour, J.-P.; Rizzoli, R.: Positive and negative control of the expression of parathyroid hormone (PTH)/PTH-related protein receptor via proximal promoter P3 in human osteoblast-like cells. J. Clin. Endocr. Metab. 85: 3376-3382, 2000.
[0030741]21329.McCuaig, K. A.; Clarke, J. C.; White, J. H.: Molecular cloning of the gene encoding the mouse parathyroid hormone/parathyroid hormone-related peptide receptor. Proc. Nat. Acad. Sci. 91: 5051-5055, 1994.
[0030742]21330.Minagawa, M.; Watanabe, T.; Kohno, Y.; Mochizuki, H.; Hendy, G. N.; Goltzman, D.; White, J. H.; Yasuda, T.: Analysis of the P3 promoter of the human parathyroid hormone (PTH)/PTHrelated peptide receptor gene in pseudohypoparathyroidism type 1b. J. Clin. Endocr. Metab. 86: 1394-1397, 2001.
[0030743]21331.Minagawa, M.; Yasuda, T.; Watanabe, T.; Minamitani, K.; Takahashi, Y.; Goltzman, D.; White, J. H.; Hendy, G. N.; Kohno, Y.: Association between AAAG repeat polymorphism in the P3 promoter of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene and adult height, urinary pyridinoline excretion, and promoter activity. J. Clin. Endocr. Metab. 87: 1791-1796, 2002.
[0030744]21332.Parfitt, A. M.; Schipani, E.; Rao, D. S.; Kupin, W.; Han, Z.-H.; Juppner, H.: Hypercalcemia due to constitutive activity of the parathyroid hormone (PTH)/PTH-related peptide receptor: comparison with primary hyperparathyroidism. J. Clin. Endocr. Metab. 81: 3584-3588, 1996.
[0030745]21333.Schipani, E.; Karga, H.; Karaplis, A. C.; Potts, J. T, Jr.; Kronenberg, H. M.; Segre, G. V.; Abou-Samra, A.-B.; Juppner, H.: Identical complementary deoxyribonucleic acids encode a human renal and bone parathyroid hormone (PTH)/PTH-related peptide receptor. Endocrinology 132: 2157-2165, 1993.
[0030746]21334.Schipani, E.; Langman, C.; Hunzelman, J.; Le Merrer, M.; Loke, K. Y.; Dillon, M. J.; Silve, C.; Juppner, H.: A novel parathyroid hormone (PTH)/PTH-related peptide receptor mutation in Jansen's metaphyseal chondrodysplasia. J. Clin. Endocr. Metab. 84: 3052-3057, 1999.
[0030747]21335.Schipani, E.; Langman, C. B.; Parfitt, A. M.; Jensen, G. S.; Kikuchi, S.; Kooh, S. W.; Cole, W. G.; Juppner, H.: Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia. New Eng. J. Med. 335: 708-714, 1996.
[0030748]21336.Pausova, Z.; Bourdon, J.; Clayton, D.; Mattei, M.-G.; Seldin, M. F.; Janicic, N.; Riviere, M.; Szpirer, J.; Levan, G.; Szpirer, C.; Goltzman, D.; Hendy, G. N.: Cloning of a parathyroid hormone/parathyroid hormone-related peptide receptor (PTHR) cDNA from a rat osteosarcoma (UMR 106) cell line: chromosomal assignment of the gene in the human, mouse, and rat genomes. Genomics 20: 20-26, 1994.
[0030749]21337.Schipani, E.; Weinstein, L. S.; Bergwitz, C.; Iida-Klein, A.; Kong, X. F.; Stuhrmann, M.; Kruse, K.; Whyte, M. P.; Murray, T.; Schmidtke, J.; van Dop, C.; Brickman, A. S.; Crawford, J. D.; Potts, J. T., Jr.; Kronenberg, H. M.; Abou-Samra, A. B.; Segre, G. V.; Juppner, H.: Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene. J. Clin. Encocr. Metab. 80: 1611-1621, 1995.
[0030750]21338.Suarez, F.; Lebrun, J. J.; Lecossier, D.; Escoubet, B.; Coureau, C.; Silve, C.: Expression and modulation of the parathyroid hormone (PTH)/PTH-related peptide receptor messenger ribonucleic acid in skin fibroblasts from patients with type Ib pseudohypoparathyroidism. J. Clin. Endocr. Metab. 80: 965-970, 1995.
[0030751]21339.Zhang, P.; Jobert, A.-S.; Couvineau, A.; Silve, C.: A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia. J. Clin. Endocr. Metab. 83: 3365-3368, 1998.
[0030752]21340.Albright, F.: Case records of the Massachusetts General Hospital (case 27461). New Eng. J. Med. 225: 789-791, 1941.
[0030753]21341.Bakre, M. M.; Zhu, Y.; Yin, H.; Burton, D. W.; Terkeltaub, R.; Deftos, L. J.; Varner, J. A.: Parathyroid hormone-related peptide is a naturally occurring, protein kinase A-dependent angiogenesis inhibitor. Nature Med. 8: 995-1003, 2002.
[0030754]21342.Broadus, A. E.; Mangin, M.; Ikeda, K.; Insogna, K. L.; Weir, E. C.; Burtis, W. J.; Stewart, A. F.: Humoral hypercalcemia of cancer: identification of a novel parathyroid hormone-like peptide. New Eng. J. Med. 319: 556-563, 1988.
[0030755]21343.Hammonds, R. G., Jr.; McKay, P.; Winslow, G. A.; Diefenbach-Jagger, H.; Grill, V.; Glatz, J.; Rodda, C. P.; Moseley, J. M.; Wood, W. I.; Martin, T. J.: Purification and characterization of recombinant human parathyroid hormone-related protein. J. Biol. Chem. 264: 14806-14811, 1989.
[0030756]21344.Hendy, G. N.; Sakaguchi, A. Y.; Lalley, P. A.; Martinez, L.; Yasuda, T.; Banville, D.; Goltzman, D.: Gene for parathyroid hormone-like peptide is on mouse chromosome 6. Cytogenet. Cell Genet. 53: 80-82, 1990.
[0030757]21345.Hendy, G. N.; Sakaguchi, A. Y.; Lalley, P. A.; Martinez, L.; Yasuda, T.; Banville, D.; Goltzman, D.: Gene for parathyroid hormone-like peptide is on mouse chromosome 6. (Abstract) Cytogenet. Cell Genet. 51: 1003 only, 1989.
[0030758]21346.Kim, S. K.; Selleri, L.; Lee, J. S.; Zhang, A. Y.; Gu, X.; Jacobs, Y.; Cleary, M. L.: Pbx1 inactivation disrupts pancreas development and in Ipf1-deficient mice promotes diabetes mellitus. Nature Genet. 30: 430-435, 2002.
[0030759]21347.Mercader, N.; Leonardo, E.; Azpiazu, N.; Serrano, A.; Morata, G.; Martinez-A, C.; Torres, M.: Conserved regulation of proximodistal limb axis development by Meis1/Hth. Nature 402: 425-429, 1999.
[0030760]21348.Monica, K.; Galili, N.; Nourse, J.; Saltman, D.; Cleary, M. L. : PBX2 and PBX3, new homeobox genes with extensive homology to the human proto-oncogene PBX1. Molec. Cell. Biol. 11: 6149-6157, 1991.
[0030761]21349.Aguado, B.; Campbell, R. D.: The novel gene G17, located in the human major histocompatibility complex, encodes PBX2, a homeodomain-containing protein. Genomics 25: 650-659, 1995.
[0030762]21350.Katsanis, N.; Fitzgibbon, J.; Fisher, E. M. C.: Paralogy mapping: identification of a region in the human MHC triplicated onto human chromosomes 1 and 9 allows the prediction and isolation of novel PBX and NOTCH loci. Genomics 35: 101-108, 1996.
[0030763]21351.Eisenhofer, G.; Walther, M. M.; Huynh, T.-T.; Li, S.-T.; Bornstein, S. R.; Vortmeyer, A.; Mannelli, M.; Goldstein, D. S.; Linehan, W. M.; Lenders, J. W. M.; Pacak, K.: Pheochromocytomas in von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2 display distinct biochemical and clinical phenotypes. J. Clin. Endocr. Metab. 86: 1999-2008, 2001.
[0030764]21352.Glasser, S. W.; Korfhagen, T. R.; Weaver, T. E.; Clark, J. C.; Pilot-Matias, T.; Meuth, J.; Fox, J. L.; Whitsett, J. A.: cDNA, deduced polypeptide structure and chromosomal assignment of human pulmonary surfactant proteolipid, SPL(pVal). J. Biol. Chem. 263: 9-12, 1988.
[0030765]21353.Ahmad, S.; Banville, D.; Zhao, Z.; Fischer, E. H.; Shen, S.-H. : A widely expressed human protein-tyrosine phosphatase containing src homology 2 domains. Proc. Nat. Acad. Sci. 90: 2197-2201, 1993.
[0030766]21354.Bastien, L.; Ramachandran, C.; Liu, S.; Adam, M.: Cloning, expression, and mutational analysis of SH-PTP2, human protein-tyrosine phosphatase 2-domains. Biochem. Biophys. Res. Commun. 196: 124-133, 1993.
[0030767]21355.Dechert, U.; Duncan, A. M. V.; Bastien, L.; Duff, C.; Adam, M.; Jirik, F. R.: Proteintyrosine phosphatase SH-PTP2 (PTPN11) is localized to 12q24.1-24.3. Hum. Genet. 96: 609-615, 1995.
[0030768]21356.Higashi, H.; Tsutsumi, R.; Muto, S.; Sugiyama, T.; Azuma, T; Asaka, M.; Hatakeyama, M.: SHP-2 tyrosine phosphatase as an intracellular target of Helicobacter pylori CagA protein. Science 295: 683-686, 2002.
[0030769]21357.Hof, P.; Pluskey, S.; Dhe-Paganon, S.; Eck, M. J.; Shoelson, S. E.: Crystal structure of the tyrosine phosphatase SHP-2. Cell 92: 441-450, 1998.
[0030770]21358.Isobe, M.; Hinoda, Y.; Imai, K.; Adachi, M.: Chromosomal localization of an SH2 containing tyrosine phosphatase (SH-PTP3) gene to chromosome 12q24.1. Oncogene 9: 1751-1753, 1994.
[0030771]21359.Qu, C.-K.; Yu, W.-M.; Azzarelli, B.; Cooper, S.; Broxmeyer, H. E.; Feng, G.-S.: Biased suppression of hematopoiesis and multiple developmental defects in chimeric mice containing Shp-2 mutant cells. Molec. Cell. Biol. 18: 6075-6082, 1998.
[0030772]21360.Saxton, T. M.; Ciruna, B. G.; Holmyard, D.; Kulkarni, S.; Harpal, K.; Rossant, J.; Pawson, T.: The SH2 tyrosine phosphatase Shp2 is required for mammalian limb development. Nature Genet. 24: 420-423, 2000.
[0030773]21361.Saxton, T. M.; Henkemeyer, M.; Gasca, S.; Shen, R.; Rossi, D. J.; Shalaby, F.; Feng, G.-S.; Pawson, T.: Abnormal mesoderm patterning in mouse embryos mutant for the SH2 tyrosine phosphatase Shp-2. EMBO J. 16: 2352-2364, 1997.
[0030774]21362.Tartaglia, M.; Kalidas, K.; Shaw, A.; Song, X.; Musat, D. L.; van der Burgt, I.; Brunner, H. G.; Bertola, D. R.; Crosby, A.; Ion, A.; Kucherlapati, R. S.; Jeffery, S.; Patton, M. A.; Gelb, B. D.: PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am. J. Hum. Genet. 70: 1555-1563, 2002.
[0030775]21363.Zhao, Z. J.; Zhao, R.: Purification and cloning of PZR, a binding protein and putative physiological substrate of tyrosine phosphatase SHP-2. J. Biol. Chem. 273: 29367-29372, 1998.
[0030776]21364.Allaart, C. F.; Aronson, D. C.; Ruys, T.; Rosendaal, F. R.; van Bockel, J. H.; Bertina, R. M.; Briet, E.: Hereditary protein S deficiency in young adults with arterial occlusive disease. Thromb. Haemost. 64: 206-210, 1990.
[0030777]21365.Beauchamp, N. J.; Daly, M. E.; Makris, M.; Preston, F. E.; Peake, I. R.: A novel mutation in intron K of the PROS1 gene causes aberrant RNA splicing and is a common cause of protein S deficiency in a UK thrombophilia cohort. Thromb. Haemost. 79: 1086-1091, 1998.
[0030778]21366.Bertina, R. M.: Nomenclature proposal for protein S deficiency XXXVI Annual meeting of the Scientific and Standardization Committee of the ISTH Barcelona, and Spain, 1990.
[0030779]21367.Bertina, R. M.; Ploos van Amstel, H. K.; van Wijngaarden, A.; Coenen, J.; Leemhuis, M. P.; Deutz-Terlouw, P. P.; van der Linden, I. K.; Reitsma, P. H.: Heerlen polymorphism of protein S, an immunologic polymorphism due to dimorphism of residue 460. Blood 76: 538-548, 1990.
[0030780]21368.Bosson, J. L.; Francois, P.; Pernod, G.; Carpentier, P.: Maladie thrombo-embolique veineuse chez l'enfant liee a un deficit transitoire en proteine S au decours d'une varicelle. (Letter) Presse Med. 24: 415 only, 1995.
[0030781]21369.Chafa, O.; Fischer, A. M.; Meriane, F.; Chellali, F.; Rahal, S.; Sternberg, C.; Benabadji, M.: A new case of 'type II' inherited protein S deficiency. Brit. J. Haemat. 73: 501-505, 1989.
[0030782]21370.Clark, D. A.; Williams, W. L.; Marlar, R. A.: Mesenteric vein thrombosis associated with a familial deficiency of free protein S. Arch. Path. Lab. Med. 115: 617-619, 1991.
[0030783]21371.Comp, P. C.; Esmon, C. T.: Recurrent venous thromboembolism in patients with a partial deficiency of protein S. New Eng. J. Med. 311: 1525-1528, 1984.
[0030784]21372.Lorimer, D. D.; Benya, R. V.: Cloning and quantification of galanin-1 receptor expression by mucosal cells lining the human gastrointestinal tract. Biochem. Biophys. Res. Commun. 222: 379-385, 1996.
[0030785]21373.Nicholl, J.; Kofler, B.; Sutherland, G. R.; Shine, J.; Iismaa, T. P.: Assignment of the gene encoding human galanin receptor (GALNR) to 18q23 by in situ hybridization. Genomics 30: 629-630, 1995.
[0030786]21374.Parker, E. M.; Izzarelli, D. G.; Nowak, H. P.; Mahle, C. D.; Iben, L. G.; Wang, J.; Goldstein, M. E.: Cloning and characterization of the rat GALR1 galanin receptor from Rin14B insulinoma cells. Molec. Brain Res. 34: 179-189, 1995.
[0030787]21375.Simoneaux, D. K.; Leach, R. J.; O'Connell, P.: Galanin receptor 1 gene (Galnr1) is tightly linked to the myelin basic protein gene on chromosome 18 in mouse. Mammalian Genome 8: 875 only, 1997.
[0030788]21376.Walli, R.; Schafer, H.; Morys-Wortmann, C.; Paetzold, G.; Nustede, R.; Schmidt, W. E.: Identification and biochemical characterization of the human brain galanin receptor. J. Molec. Endocr. 13: 347-356, 1994.
[0030789]21377.Futterer, A.; Kruppa, G.; Kramer, B.; Lemke, H.; Kronke, M.: Molecular cloning and characterization of human kinectin. Molec. Biol. Cell 6: 161-170, 1995.
[0030790]21378.Plitz, T.; Pfeffer, K.: Intact lysosome transport and phagosome function despite kinectin deficiency. Molec. Cell. Biol. 21: 6044-6055, 2001.
[0030791]21379.Print, C. G.; Leung, E.; Harrison, J. E. B.; Watson, J. D.; Krissansen, G. W.: Cloning of a gene encoding a human leukocyte protein characterised by extensive heptad repeats. Gene 144: 221-228, 1994.
[0030792]21380.Print, C. G.; Morris, C. M.; Spurr, N. K.; Rooke, L.; Krissansen, G. W.: The CG-1 gene, a member of the kinectin and ES/130 family, maps to human chromosome band 14q22. Immunogenetics 43: 227-229, 1996.
[0030793]21381.Rao, P. N.; Yu, H.; Hodge, R.; Pettenati, M. J.; Sheetz, M. P. : Assignment of the human kinectin gene (KTN1), encoding a kinesin-binding protein, to chromosome 14 band q22.1 by in situ hybridization. Cytogenet. Cell Genet. 79: 196-197, 1997.
[0030794]21382.Yu, H.; Nicchitta, C. V.; Kumar, J.; Becker, M.; Toyoshima, I.; Sheetz, M. P.: Characterization of kinectin, a kinesin-binding protein: primary sequence and N-terminal topogenic signal analysis. Molec. Biol. Cell 6: 171-183, 1995.
[0030795]21383.Gordenin, D. A.; Kunkel, T. A.; Resnick, M. A.: Repeat expansion--all in a flap? Nature Genet. 16: 116-118, 1997.
[0030796]21384.Greene, A. L.; Snipe, J. R.; Gordenin, D. A.; Resnick, M. A.: Functional analysis of human FEN1 in Saccharomyces cerevisiae and its role in genome stability. Hum. Molec. Genet. 8: 2263-2273, 1999.
[0030797]21385.Nakatsuru, S.; Sudo, K.; Nakamura, Y.: Isolation and mapping of a human gene (MCM2) encoding a product homologous to yeast proteins involved in DNA replication. Cytogenet. Cell Genet. 68: 226-230, 1995.
[0030798]21386.Augusseau, S.; Jouk, S.; Jalbert, P.; Prieur, M.: DiGeorge syndrome and 22q11 rearrangements. (Letter) Hum. Genet. 74: 206 only, 1986.
[0030799]21387.Van Esch, H.; Groenen, P.; Daw, S.; Poffyn, A.; Holvoet, M.; Scambler, P.; Fryns, J.-P.; Van de Ven, W.; Devriendt, K.: Partial DiGeorge syndrome in two patients with a 10p rearrangement. Clin. Genet. 55: 269-276, 1999.
[0030800]21388.Wadey, R.; Daw, S.; Taylor, C.; Atif, U.; Kamath, S.; Halford, S.; O'Donnell, H.; Wilson, D.; Goodship, J.; Burn, J.; Scambler, P. : Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome. Hum. Molec. Genet. 4: 1027-1033, 1995.
[0030801]21389.Zhao, Z.; Lee, C.-C.; Jiralerspong, S.; Juyal, R. C.; Lu, F.; Baldini, A.; Greenberg, F.; Caskey, C. T.; Patel, P. I.: The gene for a human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis syndrome patients. Hum. Molec. Genet. 4: 589-597, 1995.
[0030802]21390.Contractor, A.; Rogers, C.; Maron, C.; Henkemeyer, M.; Swanson, G. T.; Heinemann, S. F.: Trans-synaptic Eph receptor-ephrin signaling in hippocampal mossy fiber LTP. Science 296: 1864-1869, 2002.
[0030803]21391.Tang, X. X.; Biegel, J. A.; Nycum, L. M.; Yoshioka, A.; Brodeur, G. M.; Pleasure, D. E.; Ikegaki, N.: cDNA cloning, molecular characterization, and chromosomal localization of NET (EPHT2), a human EPH-related receptor protein-tyrosine kinase gene preferentially expressed in brain. :Genomics 29: 426-437, 1995.
[0030804]21392.Kamp, C.; Hirschmann, P.; Voss, H.; Huellen, K.; Vogt, P. H.: Two long homologous retroviral sequence blocks in proximal Yq11 cause AZFa microdeletions as a result of intrachromosomal recombination events. Hum. Molec. Genet. 9: 2563-2572, 2000.
[0030805]21393.Krausz, C.; Meyts, E. R.-D.; Frydelund-Larson, L.; Quintana-Murci, L.; McElreavey, K.; Skakkebaek, N. E.: Double-blind Y chromosome microdeletion analysis in men with known sperm parameters and reproductive hormone profiles: microdeletions are specific for spermatogenic failure. J. Clin. Endocr. Metab. 86: 2638-2642, 2001.
[0030806]21394.Simpson, E.; Chandler, P.; Goulmy, E.; Ma, K.; Hargreave, T. B.; Chandley, A. C.: Loss of the 'azoospermia factor' (AZF) on Yq in man is not associated with loss of HYA. Hum. Molec. Genet. 2: 469-471, 1993.
[0030807]21395.Sun, C.; Skaletsky, H.; Rozen, S.; Gromoll, J.; Nieschlag, E.; Oates, R.; Page, D. C.: Deletion of azoospermia factor a (AZFa) region of human Y chromosome caused by recombination between HERV15 proviruses. Hum. Molec. Genet. 9: 2291-2296, 2000.
[0030808]21396.Krausz, C.; Quintana-Murci, L.; Barbaux, S.; Siffroi, J.-P.; Rouba, H.; Delafontaine, D.; Souleyreau-Therville, N.; Arvis, G.; Antoine, J. M.; Erdei, E.; Taar, J. P.; Tar, A.; Jeandidier, E.; Plessis, G.; Bourgeron, T.; Dadoune, J.-P.; Fellous, M.; McElreavey, K.: A high frequency of Y chromosome deletions in males with nonidiopathic infertility. J. Clin. Endocr. Metab. 84: 3606-3612, 1999.
[0030809]21397.Ma, K.; Inglis, J. D.; Sharkey, A.; Bickmore, W. A.; Hill, R. E.; Prosser, E. J.; Speed, R. M.; Thomson, E. J.; Jobling, M.; Taylor, K.; Wolfe, J.; Cooke, H. J.; Hargreave, T. B.; Chandley, A. C.: A Y chromosome gene family with RNA-binding protein homology: candidates for the azoospermia factor AZF controlling human spermatogenesis. Cell 75: 1287-1295, 1993.
[0030810]21398.Vergnaud, G.; Page, D. C.; Simmler, M. C.; Brown, L.; Rouyer, F.; Noel, B.; Botstein, D.; de la Chapelle, A.; Weissenbach, J.: A deletion map of the human Y chromosome based on DNA hybridization. Am. J. Hum. Genet. 38: 109-124, 1986.
[0030811]21399.Vogt, P.; Chandley, A. C.; Hargreave, T. B.; Keil, R.; Ma, K.; Sharkey, A.: Microdeletions in interval 6 of the Y chromosome of males with idiopathic sterility point to disruption of AZF, a human spermatogenesis gene. Hum. Genet. 89: 491-496, 1992.
[0030812]21400.Vogt, P. H.; Edelmann, A.; Kirsch, S.; Henegariu, O.; Hirschmann, P.; Kiesewetter, F.; Kohn, F. M.; Schill, W. B.; Farah, S.; Ramos, C.; Hartmann, M.; Hartschuh, W.; Meschede, D.; Behre, H. M.; Castel, A.; Nieschlag, E.; Weidner, W.; Grone, H.-J.; Jung, A.; Engel, W.; Haidl, G.: Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum. Molec. Genet. 5: 933-943, 1996.
[0030813]21401.Hawkins, J. R.: Mutational analysis of SRY in XY females. Hum. Mutat. 2: 347-350, 1993.
[0030814]21402.Hawkins, J. R.; Taylor, A.; Berta, P.; Levilliers, J.; Van der Auwera, B.; Goodfellow, P. N.: Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal. Hum. Genet. 88: 471-474, 1992.
[0030815]21403.Rohen, C.; Caselitz, J.; Stern, C.; Wanschura, S.; Schoenmakers, E. F.; Van de Ven, W. J.; Barnitzke, S.; Bullerdiek, J.: A hamartoma of the breast with an aberration of 12q mapped to the MAR region by fluorescence in situ hybridization. Genes Chromosomes Cancer 84: 82-84, 1995.
[0030816]21404.Schoenmakers, E. F. P. M.; Huysmans, C.; Van de Ven, W. J. M. : Allelic knockout of novel splice variants of human recombination repair gene RAD51B in t(12;14) uterine leiomyomas. Cancer Res. 59: 19-23, 1999.
[0030817]21405.Zhou, X.; Benson, K. F.; Ashar, H. R.; Chada, K.: Mutation responsible for the mouse pygmy phenotype in the developmentally regulated factor HMGI-C. Nature 377: 771-774, 1995.
[0030818]21406.Petit, M. M. R.; Mols, R.; Schoenmakers, E. F. P. M.; Mandahl, N.; Van de Ven, W. J. M.: LPP, the preferred fusion partner gene of HMGIC in lipomas, is a novel member of the LIM protein gene family. Genomics 36: 118-129, 1996.
[0030819]21407.Burgess, D. L.; Kohrman, D. C.; Galt, J.; Plummer, N. W.; Jones, J. M.; Spear, B.; Meisler, M. H.: Mutation of a new sodium channel gene, Scn8a, in the mouse mutant 'motor endplate disease'. Nature Genet. 10: 461-465, 1995.
[0030820]21408.DeRepentigny, Y.; Cote, P. D.; Pool, M.; Bernier, G.; Girard, S.; Vidal, S. M.; Kothary, R.: Pathological and genetic analysis of the degenerating muscle (dmu) mouse: a new allele of Scn8a. Hum. Molec. Genet. 10: 1819-1827, 2001.
[0030821]21409.Kohrman, D. C.; Harris, J. B.; Meisler, M. H.: Mutation detection in the med and med(J) alleles of the sodium channel Scn8a: unusual splicing due to a minor class AT-AC intron. J. Biol. Chem. 271: 17576-17581, 1996.
[0030822]21410.Kohrman, D. C.; Plummer, N. W.; Schuster, T.; Jones, J. M.; Jang, W.; Burgess, D. L.; Galt, J.; Spear, B. T.; Meisler, M. H.: Insertional mutation of the motor endplate disease (med) locus on mouse chromosome 15. Genomics 26: 171-177, 1995.
[0030823]21411.Kohrman, D. C.; Smith, M. R.; Goldin, A. L.; Harris, J.; Meisler, M. H.: A missense mutation in the sodium channel Scn8a is responsible for cerebellar ataxia in the mouse mutant jolting. J. Neurosci. 16: 5993-5999, 1996.
[0030824]21412.Meisler, M. H.; Sprunger, L. K.; Plummer, N. W.; Escayg, A.; Jones, J. M.: Ion channel mutations in mouse models of inherited neurological disease. Ann. Med. 29: 569-574, 1997.
[0030825]21413.Plummer, N. W.; Galt, J.; Jones, J. M.; Burgess, D. L.; Sprunger, L. K.; Kohrman, D. C.; Meisler, M. H.: Exon organization, coding sequence, physical mapping, and polymorphic intragenic markers for the human neuronal sodium channel gene SCN8A. Genomics 54: 287-296, 1998.
[0030826]21414.Plummer, N. W.; McBurney, M. W.; Meisler, M. H.: Alternative splicing of the sodium channel SCN8A predicts a truncated two-domain protein in fetal brain and non-neuronal cells. J. Biol. Chem. 272: 24008-24015, 1997.
[0030827]21415.Reid, E.; Escayg, A.; Dearlove, A. M.; Lee, D. D.; Meisler, M. H.; Rubinsztein, D. C.: The spastic paraplegia SPG10 locus: narrowing of critical region and exclusion of sodium channel gene SCN8A as a candidate. J. Med. Genet. 38: 65-67, 2001.
[0030828]21416.Sprunger, L. K.; Escayg, A.; Tallaksen-Greene, S.; Albin, R. L.; Meisler, M. H.: Dystonia associated with mutation of the neuronal sodium channel Scn8a and identification of the modifier locus Scnm1 on mouse chromosome 3. Hum. Molec. Genet. 8: 471-479, 1999.
[0030829]21417.Casey, J. L.; Di Jeso, B.; Rao, K.; Klausner, R. D.; Harford, J. B.: Two genetic loci participate in the regulation by iron of the gene for the human transferrin receptor. Proc. Nat. Acad. Sci. 85: 1787-1791, 1988.
[0030830]21418.Enns, C. A.; Suomalainen, H. A.; Gebhardt, J. E.; Schroder, J.; Sussman, H. H.: Human transferrin receptor: expression of the receptor is assigned to chromosome 3. Proc. Nat. Acad. Sci. 79: 3241-3245, 1982.
[0030831]21419.Gareau, R.; Gagnon, M. G.; Thellend, C.; Chenard, C.; Audran, M.; Chanal, J.-L.; Ayotte, C.; Brisson, G. R.: Transferrin soluble receptor: a possible probe for detection of erythropoietin abuse by athletes. Horm. Metab. Res. 26: 311-312, 1994.
[0030832]21420.Goodfellow, P. N.; Banting, G.; Sutherland, R.; Greaves, M.; Solomon, E.; Povey, S.: Expression of human transferrin receptor is controlled by a gene on chromosome 3: assignment using species specificity of a monoclonal antibody. Somat. Cell Genet. 8: 197-206, 1982.
[0030833]21421.Larrick, J. W.; Hyman, E. S.: Acquired iron-deficiency anemia caused by an antibody against the transferrin receptor. New Eng. J. Med. 311: 214-218, 1984.
[0030834]21422.Levy, J. E.; Jin, O.; Fujiwara, Y.; Kuo, F.; Andrews, N. C.: Transferrin receptor is necessary for development of erythrocytes and the nervous system. Nature Genet. 21: 396-399, 1999.
[0030835]21423.Miller, Y. E.; Jones, C.; Scoggin, C.; Morse, H.; Seligman, P. : Chromosome 3q (22-ter) encodes the human transferrin receptor. Am. J. Hum. Genet. 35: 573-583, 1983.
[0030836]21424.Newman, R.; Schneider, C.; Sutherland, R.; Vodinelich, L.; Greaves, M.: The transferrin receptor. Trends Biochem. Sci. 7: 397-400, 1982.
[0030837]21425.Nikinmaa, B.; Schroder, J.: Two antigens, the transferrin receptor and p90 assigned to human chromosome 3, are probably the same protein. Hereditas 107: 55-58, 1987.
[0030838]21426.Omary, M. B.; Trowbridge, I. S.: Biosynthesis of the human transferrin receptor in cultured cells. J. Biol. Chem. 256: 12888-12892, 1981.
[0030839]21427.Kashuba, V. I.; Gizatullin, R. Z.; Protopopov, A. I.; Allikmets, R.; Korolev, S.; Li, J.; Boldog, F.; Tory, K.; Zabarovska, V.; Marcsek, Z.; Sumegi, J.; Klein, G.; Zabarovsky, E. R.; Kisselev, L.: NotI linking/jumping clones of human chromosome 3: mapping of the TFRC, RAB7 and HAUSP genes to regions rearranged in leukemia and deleted in solid tumors. FEBS Lett. 419: 181-185, 1997.
[0030840]21428.Rabin, M.; McClelland, A.; Kuhn, L.; Ruddle, F. H.: Regional localization of the human transferrin receptor gene to 3q26.2-qter. Am. J. Hum. Genet. 37: 1112-1116, 1985.
[0030841]21429.Schneider, C.; Kurkinen, M.; Greaves, M.: Isolation of cDNA clones for the human transferrin receptor. EMBO J. 2: 2259-2263, 1983.
[0030842]21430.Schneider, C.; Owen, M. J.; Banville, D.; Williams, J. G.: Primary structure of human transferrin receptor deduced from the mRNA sequence. Nature 311: 675-678, 1984.
[0030843]21431.Valenzuela, C. Y.; Avendano, A.; Harb, Z.: Association between Rh and plasma iron binding (transferrin). Hum. Genet. 87: 438-440, 1991.
[0030844]21432.Vodinelich, L.; Sutherland, R.; Schneider, C.; Newman, R.; Greaves, M.: Receptor for transferrin may be a 'target' structure for natural killer cells. Proc. Nat. Acad. Sci. 80: 835-839, 1983.
[0030845]21433.de Martinville, B.; Francke, U.: The c-Ha-ras1, insulin and beta-globin loci map outside the deletion associated with aniridia-Wilms' tumour. Nature 305: 641-643, 1983.
[0030846]21434.Hamm, C. W.; Ravkilde, J.; Gerhardt, W.; Jorgensen, P.; Peheim, E.; Ljungdahl, L.; Goldmann, B.; Katus, H. A.: The prognostic value of serum troponin T in unstable angina. New Eng. J. Med. 327: 146-150, 1992.
[0030847]21435.Carmellet, P.; Ferreira, V.; Breler, G.; Pollefeyt, S.; Kleckens, L.; Gertsenstein, M.; Fahrig, M.; Vandenhoeck, A.; Harpal, K.; Eberhardt, C.; Declercq, C.; Pawling, J.; Moons, L.; Collen, D.; Risau, W.; Nagy, A.: Abnormal blood vessel development and lethality in embryos lacking a single VEGF allele. Nature 380: 435-439, 1996.
[0030848]21436.Martin, L. H.; Calabi, F.; Lefebvre, F.-A.; Bilsland, C. A. G.; Milstein, C.: Structure and expression of the human thymocyte antigens CD1a, CD1b, and CD1c. Proc. Nat. Acad. Sci. 84: 9189-9193, 1987.
[0030849]21437.Martin, L. H.; Calabi, F.; Milstein, C.: Isolation of CD1 genes: a family of major histocompatibility complex-related differentiation antigens. Proc. Nat. Acad. Sci. 83: 9154-9158, 1986.
[0030850]21438.Moseley, W. S.; Watson, M. L.; Kingsmore, S. F.; Seldin, M. F. : CD1 defines conserved linkage group border between human chromosomes 1 and mouse chromosomes 1 and 3. Immunogenetics 30: 378-382, 1989.
[0030851]21439.Samson, F.; de Jong, P. J.; Trask, B. J.; Koza-Taylor, P.; Speer, M. C.; Potter, T.; Roses, A. D.; Gilbert, J. R.: Assignment of the human slow skeletal troponin T gene to 19q13.4 using somatic cell hybrids and fluorescence in situ hybridization analysis. Genomics 13: 1374-1375, 1992.
[0030852]21440.Samson, F.; Gilbert, J. R.; Lee, J. E.; Potter, T. G.; Koza-Taylor, P.; Speer, M. C.; Bachinski, L. L.; Siciliano, M. J.; Roses, A. D. : Isolation and localization of a human slow troponin T gene on chromosome 19q. (Abstract) Cytogenet. Cell Genet. 58: 2025, 1991.
[0030853]21441.Samson, F.; Lee, J. E.; Hung, W. Y.; Potter, T. G.; Herbstreith, M.; Roses, A. D.; Gilbert, J. R.: Isolation and localisation of a slow troponin (TNT) gene on chromosome 19 by subtraction of a cDNA muscle library using myotonic muscle cDNA. J. Neurosci. Res. 27: 441-451, 1990.
[0030854]21442.Samson, F.; Mesnard, L.; Mihovilovic, M.; Potter, T. G.; Mercadier, J.-J.; Roses, A. D.; Gilbert, J. R.: A new human slow skeletal troponin T (TnTs) mRNA isoform derived from alternative splicing of a single gene. Biochem. Biophys. Res. Commun. 199: 841-847, 1994.
[0030855]21443.Johnston, J. J.; Kelley, R. I.; Crawford, T. O.; Morton, D. H.; Agarwala, R.; Koch, T.; Schaffer, A. A.; Francomano, C. A.; Biesecker, L. G.: A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. Am. J. Hum. Genet. 67: 814-821, 2000.
[0030856]21444.Novelli, G.; Gennarelli, M.; Rocchi, M.; Dallapiccola, B.: Assignment of the slow troponin T (TNNT1) gene to chromosome 19 using polymerase chain reaction. Hum. Genet. 88: 697-698, 1992.
[0030857]21445.Novelli, G.; Gennarelli, M.; Zelano, G.; Sangiuolo, F.; Rocchi, M.; Dallapiccola, B.: Isolation and mapping of the slow skeletal troponin T using the polymerase chain reaction. (Abstract) Cytogenet. Cell Genet. 58: 2023, 1991.
[0030858]21446.Guenet, J.-L.; Simon-Chazottes, D.; Gravel, M.; Hastings, K. E. M.; Schiaffino, S.: Cardiac and skeletal muscle troponin I isoforms are encoded by a dispersed gene family on mouse chromosomes 1 and 7. Mammalian Genome 7: 13-15, 1996.
[0030859]21447.Wade, R.; Eddy, R.; Shows, T. B.; Kedes, L.: cDNA sequence, tissue-specific expression, and chromosomal mapping of the human slow-twitch skeletal muscle isoform of troponin I. Genomics 7: 346-357, 1990.
[0030860]21448.Bhavsar, P. K.; Brand, N. J.; Yacoub, M. H.; Barton, P. J. R.: Isolation and characterization of the human cardiac troponin I gene (TNNI3). Genomics 35: 11-23, 1996.
[0030861]21449.Kimura, A.; Harada, H.; Park, J.-E.; Nishi, H.; Satoh, M.; Takahashi, M.; Hiroi, S.; Sasaoka, T.; Ohbuchi, N.; Nakamura, T.; Koyanagi, T.; Hwang, T.-H.; Choo, J.; Chung, K.-S.; Hasegawa, A.; Nagai, R.; Okazaki, O.; Nakamura, H.; Matsuzaki, M.; Sakamoto, T.; Toshima, H.; Koga, Y.; Imaizumi, T.; Sasazuki, T.: Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. Nature Genet. 16: 379-382, 1997.
[0030862]21450.Labarrere, C. A.; Nelson, D. R.; Cox, C. J.; Pitts, D.; Kirlin, P.; Halbrook, H.: Cardiacspecific troponin I levels and risk of coronary artery disease and graft failure following heart transplantation. J.A.M.A. 284: 457-464, 2000.
[0030863]21451.Lang, R.; Gomes, A. V.; Zhao, J.; Housmans, P. R.; Miller, T.; Potter, J. D.: Functional analysis of a troponin I (R145G) mutation associated with familial hypertrophic cardiomyopathy. J. Biol. Chem. 277: 11670-11678, 2002.
[0030864]21452.MacGeoch, C.; Barton, P. J. R.; Vallins, W. J.; Bhavsar, P.; Spurr, N. K.: The human cardiac troponin I locus: assignment to chromosome 19p13.2-19q13.2. Hum. Genet. 88: 101-104, 1991.
[0030865]21453.Mogensen, J.; Kruse, T. A.; Borglum, A. D.: Assignment of the human cardiac troponin I gene (TNNI3) to chromosome 19q13.4 by radiation hybrid mapping. Cytogenet. Cell Genet. 79: 272-273, 1997.
[0030866]21454.Crow, R. S.: Peripheral neuritis in myelomatosis. Brit. Med. J. 2: 802-804, 1956.
[0030867]21455.Dantz, D.; Bewersdorf, J.; Fruehwald-Schultes, B.; Kern, W.; Jelkmann, W.; Born, J.; Fehm, H. L.; Peters, A.: Vascular endothelial growth factor: a novel endocrine defensive response to hypoglycemia. J. Clin. Endocr. Metab. 87: 835-840, 2002.
[0030868]21456.Ferrara, N.; Carver-Moore, K.; Chen, H.; Dowd, M.; Lu, L.; O'Shea, K. S.; Powell-Braxton, L.; Hillan, K. J.; Moore, M. W.: Heterozygous embryonic lethality induced by targeted inactivation of the VEGF gene. Nature 380: 439-442, 1996.
[0030869]21457.Folkman, J.: Angiogenesis in cancer, vascular, rheumatoid and other disease. Nature Med. 1: 27-31, 1995.
[0030870]21458.Fukumura, D.; Xavier, R.; Sugiura, T.; Chen, Y.; Park, E.-C.; Lu, N.; Selig, M.; Nielsen, G.; Taksir, T.; Jain, R. K.; Seed, B.: Tumor induction of VEGF promoter activity in stromal cells. Cell 94: 715-725, 1998.
[0030871]21459.Gerber, H.-P.; Malik, A. K.; Solar, G. P.; Sherman, D.; Liang, X. H.; Meng, G.; Hong, K.; Marsters, J. C.; Ferrara, N.: VEGF regulates haematopoietic stem cell survival by an internal autocrine loop mechanism. Nature 417: 954-958, 2002.
[0030872]21460.Gerber, H.-P.; Vu, T. H.; Ryan, A. M.; Kowalski, J.; Werb, Z.; Ferrara, N.: VEGF couples hypertrophic cartilage remodeling, ossification and angiogenesis during endochondral bone formation. Nature Med. 5: 623-628, 1999.
[0030873]21461.Giordano, F. J.; Gerber, H.-P.; Williams, S.-P.; VanBruggen, N.; Bunting, S.; Ruiz-Lozano, P.; Gu, Y.; Nath, A. K.; Huang, Y.; Hickey, R.; Dalton, N.; Peterson, K. L.; Ross, J., Jr.; Chien, K. R.; Ferrara, N.: A cardiac myocyte vascular endothelial growth factor paracrine pathway is required to maintain cardiac function. Proc. Nat. Acad. Sci. 98: 5780-5785, 2001.
[0030874]21462.Helmlinger, G.; Endo, M.; Ferrara, N.; Hlatky, L.; Jain, R. K. : Formation of endothelial cell networks. Nature 405: 139-141, 2000.
[0030875]21463.Hofman, P.; van Blijswijk, B. C.; Gaillard, P. J.; Vrensen, G. F. J. M.; Schlingemann, R. O.: Endothelial cell hypertrophy induced by vascular endothelial growth factor in the retina: new insights into the pathogenesis of capillary nonperfusion. Arch. Ophthal. 119: 861-866, 2001.
[0030876]21464.Holash, J.; Maisonpierre, P. C.; Compton, D.; Boland, P.; Alexander, C. R.; Zagzag, D.; Yancopoulos, G. D.; Wiegand, S. J.: Vessel cooption, regression, and growth in tumors mediated by angiopoietins and VEGF. Science 284: 1994-1998, 1999.
[0030877]21465.Jin, K.; Zhu, Y.; Sun, Y.; Mao, X. O.; Xie, L.; Greenberg, D. A.: Vascular endothelial growth factor (VEGF) stimulates neurogenesis in vitro and in vivo. Proc. Nat. Acad. Sci. 99: 11946-11950, 2002.
[0030878]21466.Mattei, M.-G.; Borg, J.-P.; Rosnet, O.; Marme, D.; Birnbaum, D. : Assignment of vascular endothelial growth factor (VEGF) and placenta growth factor (PIGF) genes to human chromosome 6p12-p21 and 14q24-q31 regions, respectively. Genomics 32: 168-169, 1996.
[0030879]21467.Miralles, G. D.; O'Fallon, J. R.; Talley, N. J.: Plasma-cell dyscrasia with polyneuropathy: the spectrum of POEMS syndrome. New Eng. J. Med. 327: 1919-1923, 1992.
[0030880]21468.Mueller, M. D.; Vigne, J.-L.; Minchenko, A.; Lebovic, D. I.; Leitman, D. C.; Taylor, R. N.: Regulation of vascular endothelial growth factor (VEGF) gene transcription by estrogen receptors alpha and beta. Proc. Nat. Acad. Sci. 97: 10972-10977, 2000.
[0030881]21469.Nakanishi, T.; Sobue, I.; Toyokura, Y.; Nishitani, H.; Kuroiwa, Y.; Satoyoshi, E.; Tsubaki, T.; Igata, A.; Ozaki, Y.: The Crow-Fukase syndrome: a study of 102 cases in Japan. Neurology 34: 712-720, 1984.
[0030882]21470.Niimi, H.; Arimura, K.; Jonosono, M.; Hashiguchi, T.; Kawabata, M.; Osame, M.; Kitajima, I.: VEGF is causative for pulmonary hypertension in a patient with Crow-Fukase (POEMS) syndrome. Intern. Med. 39: 1101-1104, 2000.
[0030883]21471.Oosthuyse, B.; Moons, L.; Storkebaum, E.; Beck, H.; Nuyens, D.; Brusselmans, K.; Van Dorpe, J.; Hellings, P.; Gorselink, M.; Heymans, S.; Theilmeier, G.; Dewerchin, M.; and 20 others: Deletion of the hypoxia-response element in the vascular endothelial growth factor promoter causes motor neuron degeneration. Nature Genet. 28: 131-138, 2001.
[0030884]21472.Poltorak, Z.; Cohen, T.; Sivan, R.; Kandelis, Y.; Spira, G.; Vlodavsky, I.; Keshet, E.; Neufeld, G.: VEGF145, a secreted vascular endothelial growth factor isoform that binds to extracellular matrix. J. Biol. Chem. 272: 7151-7158, 1997.
[0030885]21473.Shimpo, S.: Solitary myeloma causing polyneuritis and endocrine disorders. Nippon Rinsho 26: 2444-2456, 1968.
[0030886]21474.Soker, S.; Takashima, S.; Miao, H. Q.; Neufeld, G.; Klagsbrun, M.: Neuropilin-1 is expressed by endothelial and tumor cells as an isoform-specific receptor for vascular endothelial growth factor. Cell 92: 735-745, 1998.
[0030887]21475.Sone, H.; Kawakami, Y.; Sakauchi, M.; Nakamura, Y.; Takahashi, A.; Shimano, H.; Okuda, Y.; Segawa, T.; Suzuki, H.; Yamada, N.: Neutralization of vascular endothelial growth factor prevents collagen-induced arthritis and ameliorates established disease in mice. Biochem. Biophys. Res. Commun. 281: 562-568, 2001.
[0030888]21476.Springer, M. L.; Chen, A. S.; Kraft, P. E.; Bednarski, M.; Blau, H. M.: VEGF gene delivery to muscle: potential role for vasculogenesis in adults. Molec. Cell 2: 549-558, 1998.
[0030889]21477.Thurston, G.; Suri, C.; Smith, K.; McClain, J.; Sato, T. N.; Yancopoulos, G. D.; McDonald, D. M.: Leakage-resistant blood vessels in mice transgenically overexpressing angiopoietin-1. Science 286: 2511-2514, 1999.
[0030890]21478.Tischer, E.; Mitchell, R.; Hartman, T.; Silva, M.; Gospodarowicz, D.; Fiddes, J. C.; Abraham, J. A.: The human gene for vascular endothelial growth factor: multiple protein forms are encoded through alternative exon splicing. J. Biol. Chem. 266: 11947-11954, 1991.
[0030891]21479.Ahlgren, A.; Yanase, T.; Simpson, E. R.; Winter, J. S. D.; Waterman, M. R.: Compound heterozygous mutations (arg239-to-ter, pro342-to-thr) in the CYP17 (P45017-alpha) gene lead to ambiguous external genitalia in a male patient with partial combined 17-alpha-hydroxylase/17,20-lyase deficiency. J. Clin. Endocr. Metab. 74: 667-672, 1992.
[0030892]21480.Auchus, R. J.; Miller, W. L.: Molecular modeling of human P450c17 (17-alphahydroxylase/ 17,20-lyase): insights into reaction mechanisms and effects of mutations. Molec. Endocr. 13: 1169-1182, 1999.
[0030893]21481.Biason, A.; Mantero, F.; Scaroni, C.; Simpson, E. R.; Waterman, M. R.: Deletion within the CYP17 gene together with insertion of foreign DNA is the cause of combined complete 17-alpha-hydroxylase/17,20-lyase deficiency in an Italian patient. Molec. Endocr. 5: 2037-2045, 1991.
[0030894]21482.Biason-Lauber, A.; Kempken, B.; Werder, E.; Forest, M. G.; Einaudi, S.; Ranke, M. B.; Matsuo, N.; Brunelli, V.; Schonle, E. J.; Zachmann, M.: 17-alpha-hydroxylase/17,20-lyase deficiency as a model to study enzymatic activity regulation: role of phosphorylation. J. Clin. Endocr. Metab. 85: 1226-1231, 2000.
[0030895]21483.Biason-Lauber, A.; Leiberman, E.; Zachmann, M.: A single amino acid substitution in the putative redox partner-binding site of P450c17 as cause of isolated 17,20-lyase deficiency. J. Clin. Endocr. Metab. 82: 3807-3812, 1997.
[0030896]21484.Biglieri, E.G.: A prismatic case: 17-alpha-hydroxylase deficiency: 1963-1966. J. Clin. Endocr. Metab. 82: 48-50, 1997.
[0030897]21485.Osborne, L. R.; Martindale, D.; Scherer, S. W.; Shi, X.-M.; Huizenga, J.; Heng, H. H. Q.; Costa, T.; Pober, B.; Lew, L.; Brinkman, J.; Rommens, J.; Koop, B.; Tsui, L.-C.: Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients. Genomics 36: 328-336, 1996.
[0030898]21486.Rampoldi, L.; Dobson-Stone, C.; Rubio, J. P.; Danek, A.; Chalmers, R. M.; Wood, N. W.; Verellen, C.; Ferrer, X.; Malandrini, A.; Fabrizi, G. M.; Brown, R.; Vance, J.; Pericak-Vance, M.; Rudolf, G.; Carre, S.; Alonso, E.; Manfredi, M.; Nemeth, A. H.; Monaco, A. P.: A conserved sortingassociated protein is mutant in chorea-acanthocytosis. Nature Genet. 28: 119-120, 2001.
[0030899]21487.Belden, W. J.; Barlowe, C.: Role of Erv29p in collecting soluble secretory proteins into ER-derived transport vesicles. Science 294: 1528-1531, 2001.
[0030900]21488.Duhig, T.; Ruhrberg, C.; Mor, O.; Fried, M.: The human surfeit locus. Genomics 52: 72-78, 1998.
[0030901]21489.Reeves, J. E.; Fried, M.: The surf-4 gene encodes a novel 30 kDa integral membrane protein. Molec. Membr. Biol. 12: 201-208, 1995.
[0030902]21490.Archer, B. T., III; Ozcelik, T.; Jahn, R.; Francke, U.; Sudhof, T. C.: Structures and chromosomal localizations of two human genes encoding synaptobrevins 1 and 2. J. Biol. Chem. 265: 17267-17273, 1990.
[0030903]21491.Hu, K.; Carroll, J.; Fedorovich, S.; Rickman, C.; Sukhodub, A.; Davietov, B.: Vesicular restriction of synaptobrevin suggests a role for calcium in membrane fusion. Nature 415: 646-650, 2002.
[0030904]21492.Doggen, C. J. M.; Kunz, G.; Rosendaal, F. R.; Lane, D. A.; Vos, H. L.; Stubbs, P. J.; Cats, V. M.; Ireland, H.: A mutation in the thrombomodulin gene, 127G to A coding for ala25-to-thr, and the risk of myocardial infarction in men. Thromb. Haemost. 80: 743-748, 1998.
[0030905]21493.Esmon, N. L.: Thrombomodulin. Semin. Thromb. Hemost. 13: 454-463, 1987.
[0030906]21494.Espinosa, R., III; Sadler, J. E.; Le Beau, M. M.: Regional localization of the human thrombomodulin gene to 20p12-cen. Genomics 5: 649-650, 1989.
[0030907]21495.Franchi, F.; Biguzzi, E.; Cetin, I.; Facchetti, F.; Radaelli, T.; Bozzo, M.; Pardi, G.; Faioni, E. M.: Mutations in the thrombomodulin and endothelial protein C receptor genes in women with late fetal loss. Brit. J. Haemat. 114: 641-646, 2001.
[0030908]21496.Jackman, R. W.; Beeler, D. L.; Fritze, L.; Soff, G.; Rosenberg, R. D.: Human thrombomodulin gene is intron depleted: nucleic acid sequences of the cDNA and gene predict protein structure and suggest sites of regulatory control. Proc. Nat. Acad. Sci. 84: 6425-6429, 1987.
[0030909]21497.Kunz, G.; Ireland, H. A.; Stubbs, P. J.; Kahan, M.; Coulton, G. C.; Lane, D. A.: Identification and characterization of a thrombomodulin gene mutation coding for an elongated protein with reduced expression in a kindred with myocardial infarction. Blood 95: 569-576, 2000.
[0030910]21498.Ohlin, A.-K.; Marlar, R. A.: The first mutation identified in the thrombomodulin gene in a 45-year-old man presenting with thromboembolic disease. Blood 85: 330-336, 1995.
[0030911]21499.Okura, Y.; Kato, K.; Hanawa, H.; Izumi, T.; Kamishima, T.; Yamato, Y.; Emura, I.; Shibata, A.: Pericardial mesothelioma secreting thrombomodulin. Am. Heart J. 132: 1309-1311, 1996.
[0030912]21500.Wen, D.; Dittman, W. A.; Ye, R. D.; Deaven, L. L.; Majerus, P. W.; Sadler, J. E.: Human thrombomodulin: complete cDNA sequence and chromosome localization of the gene. Biochemistry 26: 4350-4357, 1987.
[0030913]21501.Grimm, C.; Wenzel, A.; Hafezi, F.; Yu, S.; Redmond, T. M.; Reme, C. E.: Protection of Rpe65-deficient mice identifies rhodopsin as a mediator of light-induced retinal degeneration. Nature Genet. 25: 63-66, 2000.
[0030914]21502.Barone, V.; Bertocchini, F.; Bottinelli, R.; Protasi, F.; Allen, P. D.; Armstrong, C. F.; Reggiani, C.; Sorrentino, V.: Contractile impairment and structural alterations of skeletal muscles from knockout mice lacking type 1 and type 3 ryanodine receptors. FEBS Lett. 422: 160-164, 1998.
[0030915]21503.Cavanna, J. S.; Greenfield, A. J.; Johnson, K. J.; Marks, A. R.; Nadal-Ginard, B.; Brown, S. D. M.: Establishment of the mouse chromosome 7 region with homology to the myotonic dystrophy region of human chromosome 19q. Genomics 7: 12-18, 1990.
[0030916]21504.Cheng, H.; Lederer, W. J.; Cannell, M. B.: Calcium sparks: elementary events underlying excitation-contraction coupling in heart muscle. Science 262: 740-744, 1993.
[0030917]21505.Vallins, W. J.; Brand, N. J.; Dabhade, N.; Butler-Browne, G.; Yacoub, M. H.; Barton, P. J. R.: Molecular cloning of human cardiac troponin I using polymerase chain reaction. FEBS Lett. 270: 57-61, 1990.
[0030918]21506.Vincenti, V.; Cassano, C.; Rocchi, M.; Persico, M. G.: Assignment of the vascular endothelial growth factor gene to human chromosome 6p21.3. Circulation 93: 1493-1495, 1996.
[0030919]21507.Biglieri, E. G.; Herron, M. A.; Brust, N.: 17-Hydroxylation deficiency in man. J. Clin. Invest. 45: 1946-1954, 1966.
[0030920]21508.Chung, B.-C.; Picado-Leonard, J.; Haniu, M.; Bienkowski, M.; Hall, P. F.; Shively, J. E.; Miller, W. L.: Cytochrome P450c17 (steroid 17 alpha-hydroxylase/17,20 lyase): cloning of human adrenal and testis cDNAs indicates the same gene is expressed in both tissues. Proc. Nat. Acad. Sci. 84: 407-411, 1987.
[0030921]21509.D'Armiento, M.; Reda, G.; Bisignani, G.; Tabolli, S.; Capellaci, S.; Lulli, P.; Carbonara, A.; Biglieri, E. G.: No linkage between HLA and congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency. (Letter) New Eng. J. Med. 308: 970-971, 1983.
[0030922]21510.Di Cerbo, A.; Biason-Lauber, A.; Savino, M.; Piemontese, M. R.; Di Giorgio, A.; Perona, M.; Savoia, A.: Combined 17-alpha-hydroxylase/17,20-lyase deficiency caused by phe93cys mutation in the CYP17 gene. J. Clin. Endocr. Metab. 87: 898-905, 2002.
[0030923]21511.Fan, Y.-S.; Sasi, R.; Lee, C.; Winter, J. S. D.; Waterman, M. R.; Lin, C. C.: Localization of the human CYP17 gene (cytochrome P450-17-alpha) to 10q24.3 by fluorescence in situ hybridization and simultaneous chromosome banding. Genomics 14: 1110-1111, 1992.
[0030924]21512.Geller, D. H.; Auchus, R. J.; Mendonca, B. B.; Miller, W. L.: The genetic and functional basis of isolated 17,20-lyase deficiency. Nature Genet. 17: 201-205, 1997.
[0030925]21513.Goldsmith, O.; Solomon, D. H.; Horton, R.: Hypogonadism and mineralocorticoid excess: 17-hydroxylase deficiency. New Eng. J. Med. 277: 673-677, 1967.
[0030926]21514.Gupta, M. K.; Geller, D. H.; Auchus, R. J.: Pitfalls in characterizing P450c17 mutations associated with isolated 17,20-lyase deficiency. J. Clin. Endocr. Metab. 86: 4416-4423, 2001.
[0030927]21515.Hanley, N. A.; Rainey, W. E.; Wilson, D. I.; Ball, S. G.; Parker, K. L.: Expression profiles of SF-1, DAX1, and CYP17 in the human fetal adrenal gland: potential interactions in gene regulation. Molec. Endocr. 15: 57-68, 2001.
[0030928]21516.Heremans, G. F. P.; Moolenaar, A. J.; Van Gelderen, H. H.: Female phenotype in a male child due to 17-alpha-hydroxylase deficiency. Arch. Dis. Child. 51: 721-723, 1976.
[0030929]21517.Imai, T.; Yanase, T.; Waterman, M. R.; Simpson, E. R.; Pratt, J. J.: Canadian Mennonites and individuals residing in the Friesland region of the Netherlands share the same molecular basis of 17-alpha-hydroxylase deficiency. Hum. Genet. 89: 95-96, 1992.
[0030930]21518.Jones, K. L.; Freidenberg, G. R.; Buchta, R.; Derenoncourt, A. : Male pseudohermaphroditism resulting from 17-alpha-monooxygenase (P-450C-17) deficiency in two unrelated Guamanians. Am. J. Dis. Child. 146: 592-595, 1992.
[0030931]21519.Kagimoto, K.; Waterman, M. R.; Kagimoto, M.; Ferreira, P.; Simpson, E. R.; Winter, J. S. D.: Identification of a common molecular basis for combined 17-alpha-hydroxylase/17,20-lyase deficiency in two Mennonite families. Hum. Genet. 82: 285-286, 1989.
[0030932]21520.Kagimoto, M.; Winter, J. S. D.; Kagimoto, K.; Simpson, E. R.; Waterman, M. R.: Structural characterization of normal and mutant human steroid 17-alpha-hydroxylase genes: molecular basis of one example of combined 17-alpha-hydroxylase/17,20 lyase deficiency. Molec. Endocr. 2: 564-570, 1988.
[0030933]21521.Krohn, K.; Uibo, R.; Aavik, E.; Peterson, P.; Savilahti, K.: Identification of molecular cloning of an autoantigen associated with Addison's disease as steroid 17-alpha-hydroxylase. Lancet 339: 770-773, 1992.
[0030934]21522.Laflamme, N.; Leblanc, J.-F.; Mailloux, J.; Faure, N.; Labrie, F.; Simard, J.: Mutation R96W in cytochrome P450c17 gene causes combined 17-alpha-hydroxylase/17-20-lyase deficiency in two French Canadian patients. J. Clin. Endocr. Metab. 81: 264-268, 1996.
[0030935]21523.Lin, C. J.; Martens, J. W. M.; Miller, W. L.: NF-1C, Sp1, and Sp3 are essential for transcription of the human gene for P450c17 (steroid 17-alpha-hydroxylase/17,20 lyase) in human adrenal NCI-H295A cells. Molec. Endocr. 15: 1277-1293, 2001.
[0030936]21524.Lin, D.; Harikrishna, J. A.; Moore, C. C. D.; Jones, K. L.; Miller, W. L.: Missense mutation serine106-to-proline causes 17-alpha-hydroxylase deficiency. J. Biol. Chem. 266: 15992-15998, 1991.
[0030937]21525.Mallin, S. R.: Congenital adrenal hyperplasia secondary to 17-hydroxylase deficiency. Ann. Intern. Med. 70: 69-76, 1969.
[0030938]21526.Mantero, F.; Scaroni, C.; Pasini, C. V.; Fagiolo, U.: No linkage between HLA and congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency. (Letter) New Eng. J. Med. 303: 530, 1980.
[0030939]21527.Matteson, K. J.; Picado-Leonard, J.; Chung, B.-C.; Mohandas, T. K.; Miller, W. L.: Assignment of the gene for adrenal P450C17 (steroid 17-alpha-hydroxylase/17,20 lyase) to human chromosome 10. J. Clin. Endocr. Metab. 63: 789-791, 1986.
[0030940]21528.Miller, W. L.; Chung, B.-C.; Matteson, K. J.; Voutilainen, R.; Picado-Leonard, J.: Molecular biology of steroid hormone synthesis. (Abstract) DNA 5: 61, 1986.
[0030941]21529.Donlon, T. A.; Krensky, A. M.; Clayberger, C.: Localization of the human T lymphocyte activation gene 519 (D2S69E) to chromosome 2p12-q11. Cytogenet. Cell Genet. 53: 230-231, 1990.
[0030942]21530.Jongstra, J.; Schall, T. J.; Dyer, B. J.; Clayberger, C.; Jorgensen, J.; Davis, M. M.; Krensky, A. M.: The isolation and sequence of a novel gene from a human functional T cell line. J. Exp. Med. 165: 601-614, 1987.
[0030943]21531.Kaufmann, S. H. E.: CD8+ T lymphocytes in intracellular microbial infections. Immun. Today 9: 168-174, 1988.
[0030944]21532.Pena, S. V.; Hanson, D. A.; Carr, B. A.; Goralski, T. J.; Krensky, A. M.: Processing, subcellular localization, and function of 519 (granulysin), a human late T cell activation molecule with homology to small, lytic granyle proteins. J. Immun. 158: 2680-2688, 1997.
[0030945]21533.Stenger, S.; Hanson, D. A.; Teitelbaum, R.; Dewan, P.; Niazi, K. R.; Froelich, C. J.; Ganz, T.; Thoma-Uszynski, S.; Melian, A.; Bogdan, C.; Porcelli, S. A.; Bloom, B. R.; Krensky, A. M.; Modlin, R. L.: An antimicrobial activity of cytolytic T cells mediated by granulysin. Science 282: 121-125, 1998.
[0030946]21534.Stenger, S.; Mazzaccaro, R. J.; Uyemura, K.; Cho, S.; Barnes, P. F.; Rosat, J. P.; Sette, A.; Brenner, M. B.; Porcelli, S. A.; Bloom, B. R.; Modlin, R. L.: Differential effects of cytolytic T cell subsets on intracellular infection. Science 276: 1684-1687, 1997.
[0030947]21535.Wong-Staal, F.; Dalla-Favera, R.; Franchini, G.; Gelmann, E. P.; Gallo, R. C.: Three distinct genes in human DNA related to the transforming genes of mammalian sarcoma retroviruses. Science 213: 226-228, 1981.
[0030948]21536.Aurias, A.; Rimbaut, C.; Buffe, D.; Dubousset, J.; Mazabraud, A. : Chromosomal translocations in Ewing's sarcoma. (Letter) New Eng. J. Med. 309: 496-497, 1983.
[0030949]21537.Bartram, C. R.; de Klein, A.; Hagemeijer, A.; Grosveld, G.; Heisterkamp, N.; Groffen, J.: Localization of the human c-sis oncogene in Ph-1-positive and Ph-1-negative chronic myelocytic leukemia by in situ hybridization. Blood 63: 223-225, 1984.
[0030950]21538.Bechet, J.-M.; Bornkamm, G.; Freese, U.-K.; Lenoir, G. M.: The c-sis oncogene is not activated in Ewing's sarcoma. (Letter) New Eng. J. Med. 310: 393 only, 1984.
[0030951]21539.Bishop, J. M.: Enemies within: the genesis of retrovirus oncogenes. Cell 23: 5-6, 1981.
[0030952]21540.Bolger, G. B.; Stamberg, J.; Kirsch, I. R.; Hollis, G. F.; Schwarz, D. F.; Thomas, G. H.: Chromosomal translocation t(14;22) and oncogene (c-sis) variant in a pedigree with familial meningioma. New Eng. J. Med. 312: 564-567, 1985.
[0030953]21541.Cohen, J. B.; Levinson, A. D.: A point mutation in the last intron responsible for increased expression and transforming activity of the c-Ha-ras oncogene. Nature 334: 119-124, 1988.
[0030954]21542.Collins, T.; Ginsburg, D.; Boss, J. M.; Orkin, S. H.; Pober, J. S.: Cultured human endothelial cells express platelet-derived growth factor B chain: cDNA cloning and structural analysis. Nature 316: 748-750, 1985.
[0030955]21543.Dalla-Favera, R.; Gallo, R. C.; Giallongo, A.; Croce, C.: Chromosomal localization of the human homolog (c-sis) of the simian sarcoma virus onc gene. Science 218: 686-688, 1982.
[0030956]21544.Dalla-Favera, R.; Gelmann, E. P.; Gallo, R. C.; Wong-Staal, F. : A human onc gene homologous to the transforming gene (v-sis) of simian sarcoma virus. Nature 292: 31-35, 1981.
[0030957]21545.Deuel, T. F.; Huang, J. S.; Huang, S. S.; Stroobant, P.; Waterfield, M. D.: Expression of a platelet-derived growth factor-like protein in simian sarcoma virus transformed cells. Science 221: 1348-1350, 1983.
[0030958]21546.Devare, S. G.; Reddy, E. P.; Law, J. D.; Robbins, K. C.; Aaronson, S. A.: Nucleotide sequence of the simian sarcoma virus genome: demonstration that its acquired cellular sequences encode the transforming gene product p28-sis. Proc. Nat. Acad. Sci. 80: 731-735, 1983.
[0030959]21547.Charlet-B., N.; Logan, P.; Singh, G.; Cooper, T. A.: Dynamic antagonism between ETR-3 and PTB regulates cell type-specific alternative splicing. Molec. Cell 9: 649-658, 2002.
[0030960]21548.Borglum, A. D.; Flint, T.; Tommerup, N.; Fleckner, J.; Justesen, J.; Kruse, T. A.: Assignment of the human tryptophanyl-tRNA synthetase gene (WARS) to chromosome 14q32.2-q32.32. Cytogenet. Cell Genet. 73: 99-103, 1996.
[0030961]21549.Denney, R. M.; Borgaonkar, D.; Ruddle, F. H.: Order of genes for NP and TRPRS on chromosome 14. Cytogenet. Cell Genet. 22: 493-497, 1978.
[0030962]21550.Francke, U.; Denney, R. M.; Ruddle, F. H.: Intrachromosomal gene mapping in man: the gene for tryptophanyl-tRNA synthetase maps in region q21-qter of chromosome 14. Somat. Cell Genet. 3: 381-389, 1977.
[0030963]21551.Sack, G. H.; Huether, C. A.; Garg, N.: Familial spastic paraplegia--clinical and pathologic studies in a large kindred. Johns Hopkins Med. J. 143: 117-121, 1978.
[0030964]21552.Schady, W.; Dick, J. P. R.; Sheard, A.; Crampton, S.: Central motor conduction studies in hereditary spastic paraplegia. J. Neurol. Neurosurg. Psychiat. 54: 775-779, 1991.
[0030965]21553.Schady, W.; Sheard, A.: A quantitative study of sensory function in hereditary spastic paraplegia. Brain 113: 709-720, 1990.
[0030966]21554.Schady, W.; Smith, C. M. L.: Sensory neuropathy in hereditary spastic paraplegia. J. Neurol. Neurosurg. Psychiat. 57: 693-698, 1994.
[0030967]21555.Scheltens, P.; Bruyn, R. P. M.; Hazenberg, G. J.: A Dutch family with autosomal dominant pure spastic paraparesis (Strumpell's disease). Acta Neurol. Scand. 82: 169-173, 1990.
[0030968]21556.Schwarz, G. A.; Liu, C. N.: Hereditary (familial) spastic paraplegia: further clinical and pathologic observations. Arch. Neurol. Psychiat. 75: 144-162, 1956.
[0030969]21557.Skre, H.: Hereditary spastic paraplegia in Western Norway. Clin. Genet. 6: 165-183, 1974.
[0030970]21558.Strumpell, A.: Die primaere Seitenstrangsklerose (spastische Spinalparalyse). Dtsch. Z. Nervenheilk. 27: 291-339, 1904.
[0030971]21559.Thurmon, T. F.; He, C.; Haskell, C.; Thorpe, P.; Thurmon, S. G.; Rosen, D. R.: Genetic anticipation in a large family with pure autosomal dominant hereditary spastic paraplegia. Am. J. Med. Genet. 83: 392-396, 1999.
[0030972]21560.Thurmon, T. F.; Walker, B. A.: Two distinct types of autosomal dominant spastic paraplegia. Birth Defects Orig. Art. Ser. VII(1): 216-218, 1971.
[0030973]21561.Van Bogaert, L.: Etude genetique sur les paraplegies spasmodiques familiales. J. Genet. Hum. 1: 6-23, 1952.
[0030974]21562.Zhao, X.; Alvarado, D.; Rainier, S.; Lemons, R.; Hedera, P.; Weber, C. H.; Tukel, T.; Apak, M.; Heiman-Patterson, T.; Ming, L.; Bui, M.; Fink, J. K.: Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia. Nature Genet. 29: 326-331, 2001.
[0030975]21563.Benson, K. F.; Horwitz, M.; Wolff, J.; Friend, K.; Thompson, E.; White, S.; Richards, R. I.; Raskind, W. H.; Bird, T. D.: CAG repeat expansion in autosomal dominant familial spastic paraparesis: novel expansion in a subset of patients. Hum. Molec. Genet. 7: 1779-1786, 1998.
[0030976]21564.Fonknechten, N.; Mavel, D.; Byrne, P.; Davoine, C.-S.; Cruaud, C.; Boentsch, D.; Samson, D.; Coutinho, P.; Hutchinson, M.; McMonagle, P.; Burgunder, J.-M.; Tartaglione, A.; and 10 others: Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. Hum. Molec. Genet. 9: 637-644, 2000.
[0030977]21565.Nielsen, J. E.; Koefoed, P.; Abell, K.; Hasholt, L.; Eiberg, H.; Fenger, K.; Niebuhr, E.; Sorensen, S. A.: CAG repeat expansion in autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24. Hum. Molec. Genet. 6: 1811-1816, 1997.
[0030978]21566.Svenson, I. K.; Ashley-Koch, A. E.; Gaskell, P. C.; Riney, T. J.; Cumming, W. J. K.; Kingston, H. M.; Hogan, E. L.; Boustany, R.-M. N.; Vance, J. M.; Nance, M. A.; Pericak-Vance, M. A.; Marchuk, D. A.: Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia. Am. J. Hum. Genet. 68: 1077-1085, 2001.
[0030979]21567.Ala-Kapee, M.; Nevanlinna, H.; Mali, M.; Jalkanen, M.; Schroder, J.: Localization of gene for human syndecan, an integral membrane proteoglycan and a matrix receptor, to chromosome 2. Somat. Cell Molec. Genet. 16: 501-505, 1990.
[0030980]21568.Alexander, C. M.; Reichsman, F.; Hinkes, M. T.; Lincecum, J.; Becker, K. A.; Cumberledge, S.; Bernfield, M.: Syndecan-1 is required for Wnt-1-induced mammary tumorigenesis in mice. Nature Genet. 25: 329-332, 2000.
[0030981]21569.Mali, M.; Jaakkola, P.; Arvilommi, A.-M.; Jalkanen, M.: Sequence of human syndecan indicates a novel gene family of integral membrane proteoglycans. J. Biol. Chem. 265: 6884-6889, 1990.
[0030982]21570.Oettinger, H. F.; Streeter, H.; Lose, E.; Copeland, N. G.; Gilbert, D. J.; Justice, M. J.; Jenkins, N. A.; Mohandas, T.; Bernfield, M. : Chromosome mapping of the murine syndecan gene. Genomics 11: 334-338, 1991.
[0030983]21571.Reizes, O.; Lincecum, J.; Wang, Z.; Goldberger, O.; Huang, L.; Kaksonen, M.; Ahima, R.; Hinkes, M. T.; Barsh, G. S.; Rauvala, H.; Bernfield, M.: Transgenic expression of syndecan-1 uncovers a physiological control of feeding behavior by syndecan-3. Cell 106: 105-116, 2001.
[0030984]21572.Sanderson, R. D.; Lalor, P.; Bernfield, M.: B lymphocytes express and lose syndecan at specific stages of differentiation. Cell Regulation 1: 27-35, 1989.
[0030985]21573.Westman, P.; Hsieh, C.-L.; Mali, M.; Jalkanen, M.; Francke, U.; Schroder, J.: Assignment of the human syndecan (SDC) gene to short arm of chromosome 2. (Abstract) Cytogenet. Cell Genet. 58: 1873-1874, 1991.
[0030986]21574.Asch, A. S.; Barnwell, J.; Silverstein, R. L.; Nachman, R. L.: Isolation of the thrombospondin membrane receptor. J. Clin. Invest. 79: 1054-1061, 1987.
[0030987]21575.de Fraipont, F.; El Atifi, M.; Gicquel, C.; Bertagna, X.; Chambaz, E. M.; Feige, J. J.: Expression of the angiogenesis markers vascular endothelial growth factor-A, thrombospondin-1, and platelet-derived endothelial cell growth factor in human sporadic adrenocortical tumors: correlation with genotypic alterations. J. Clin. Endocr. Metab. 85: 4734-4741, 2000.
[0030988]21576.Dixit, V. M.; Hennessy, S. W.; Grant, G. A.; Rotwein, P.; Frazier, W. A.: Characterization of a cDNA encoding the heparin and collagen binding domains of human thrombospondin. Proc. Nat. Acad. Sci. 83: 5449-5453, 1986.
[0030989]21577.Frazier, W. A.: Thrombospondin: a modular adhesive glycoprotein of platelets and nucleated cells. J. Cell Biol. 105: 625-632, 1987.
[0030990]21578.Jaffe, E.; Bornstein, P.; Disteche, C. M.: Mapping of the thrombospondin gene to human chromosome 15 and mouse chromosome 2 by in situ hybridization. Genomics 7: 123-126, 1990.
[0030991]21579.Lawler, J.; Sunday, M.; Thibert, V.; Duquette, M.; George, E. L.; Rayburn, H.; Hynes, R. O.: Thrombospondin-1 is required for normal murine pulmonary homeostasis and its absence causes pneumonia. J. Clin. Invest. 101: 982-992, 1998.
[0030992]21580.Rodriguez-Manzaneque, J. C.; Lane, T. F.; Ortega, M. A.; Hynes, R. O.; Lawler, J.; Iruela-Arispe, M. L.: Thrombospondin-1 suppresses spontaneous tumor growth and inhibits activation of matrix metalloproteinase-9 and mobilization of vascular endothelial growth factor. Proc. Nat. Acad. Sci. 98: 12485-12490, 2001.
[0030993]21581.Wolf, F. W.; Eddy, R. L.; Shows, T. B.; Dixit, V. M.: Structure and chromosomal localization of the human thrombospondin gene. Genomics 6: 685-691, 1990.
[0030994]21582.Imai, K.; Sarker, A. H.; Akiyama, K.; Ikeda, S.; Yao, M.; Tsutsui, K.; Shohmori, T.; Seki, S.: Genomic structure and sequence of a human homologue (NTHL1/NTH1) of Escherichia coli endonuclease III with those of the adjacent parts of TSC2 and SLC9A3R2 genes. Gene 222: 287-295, 1998.
[0030995]21583.Mira, J.-P.; Cariou, A.; Grall, F.; Delclaux, C.; Losser, M.-R.; Heshmati, F.; Cheval, C.; Monchi, M.; Teboul, J.-L.; Riche, F.; Leleu, G.; Arbibe, L.; Mignon, A.; Delpech, M.; Dhainaut, J.-F.: Association of TNF2, a TNF-alpha promoter polymorphism, with septic shock susceptibility and mortality: a multicenter study. J.A.M.A. 282: 561-568, 1999.
[0030996]21584.Moffatt, M. F.; Cookson, W. O. C. M.: Tumour necrosis factor haplotypes and asthma. Hum. Molec. Genet. 6: 551-554, 1997.
[0030997]21585.Moraes, M. O.; Duppre, N. C.; Suffys, P. N.; Santos, A. R.; Almeida, A. S.; Nery, J. A. C.; Sampaio, E. P.; Sarno, E. N.: Tumor necrosis factor-alpha promoter polymorphism TNF2 is associated with a stronger delayed-type hypersensitivity reaction in the skin of borderline tuberculoid leprosy patients. Immunogenetics 53: 45-47, 2001.
[0030998]21586.Mulcahy, B.; Waldron-Lynch, F.; McDermott, M. F.; Adams, C.; Amos, C. I.; Zhu, D. K.; Ward, R. H.; Clegg, D. O.; Shanahan, F.; Molloy, M. G.; O'Gara, F.: Genetic variability in the tumor necrosis factor-lymphotoxin region influences susceptibility to rheumatoid arthritis. Am. J. Hum. Genet. 59: 676-683, 1996.
[0030999]21587.Muller, U.; Jongeneel, C. V.; Nedospasov, S. A.; Lindahl, K. F.; Steinmetz, M.: Tumour necrosis factor and lymphotoxin genes map close to H-2D in the mouse major histocompatibility complex. Nature 325: 265-267, 1987.
[0031000]21588.Nadel, S.; Newport, M. J.; Booy, R.; Levin, M.: Variation in the tumor necrosis factoralpha gene promoter region may be associated with death from meningococcal disease. J. Infect. Dis. 174: 878-880, 1996.
[0031001]21589.Nedospasov, S. A.; Hirt, B.; Shakhov, A. N.; Dobrynin, V. N.; Kawashima, E.; Accolla, R. S.; Jongeneel, C. V.: The genes for tumor necrosis factor (TNR-alpha) and lymphotoxin (TNR-beta) are tandemly arranged on chromosome 17 of the mouse. Nucleic Acids Res. 14: 7713-7725, 1986.
[0031002]21590.Nedwin, G. E.; Naylor, S. L.; Sakaguchi, A. Y.; Smith, D.; Jarrett-Nedwin, J.; Pennica, D.; Goeddel, D. V.; Gray, P. W.: Human lymphotoxin and tumor necrosis factor genes: structure, homology and chromosomal localization. Nucleic Acids Res. 13: 6361-6373, 1985.
[0031003]21591.Norman, R. A.; Bogardus, C.; Ravussin, E.: Linkage between obesity and a marker near the tumor necrosis factor-alpha locus in Pima Indians. J. Clin. Invest. 96: 158-162, 1995.
[0031004]21592.Obayashi, H.; Hasegawa, G.; Fukui, M.; Kamiuchi, K.; Kitamura, A.; Ogata, M.; Kanaitsuka, T.; Shigeta, H.; Kitagawa, Y.; Nakano, K.; Nishimura, M.; Ohta, M.; Nakamura, N.: Tumor necrosis factor microsatellite polymorphism influences the development of insulin dependency in adultonset diabetes patients with the DRB1*1502-DQB1*0601 allele and anti-glutamic acid decarboxylase antibodies. J. Clin. Endocr. Metab. 85: 3348-3351, 2000.
[0031005]21593.Old, L. J.: Tumor necrosis factor (TNF). Science 230: 630-632, 1985.
[0031006]21594.Pennica, D.; Nedwin, G. E.; Hayflick, J. S.; Seeburg, P. H.; Derynck, R.; Palladino, M. A.; Kohr, W. J.; Aggarwal, B. B.; Goeddel, D. V. : Human tumour necrosis factor: precursor structure, expression and homology to lymphotoxin. Nature 312: 724-729, 1984.
[0031007]21595.Ragoussis, J.; Bloemer, K.; Weiss, E. H.; Ziegler, A.: Localization of the genes for tumor necrosis factor and lymphotoxin between the HLA class I and III regions by field inversion gel electrophoresis. Immunogenetics 27: 66-69, 1988.
[0031008]21596.Rasmussen, S. K.; Urhammer, S. A.; Jensen, J. N.; Hansen, T.; Borch-Johnsen, K.; Pedersen, O.: The -238 and -308 G6A polymorphisms of the tumor necrosis factor alpha gene promoter are not associated with features of the insulin resistance syndrome or altered birth weight in Danish Caucasians. J. Clin. Endocr. Metab. 85: 1731-1734, 2000.
[0031009]21597.Rosmond, R.; Chagnon, M.; Bouchard, C.; Bjorntorp, P.: G-308A polymorphism of the tumor necrosis factor alpha gene promoter and salivary cortisol secretion. J. Clin. Endocr. Metab. 86: 2178-2180, 2001.
[0031010]21598.Roy, S.; McGuire, W.; Mascie-Taylor, C. G.; Saha, B.; Hazra, S. K.; Hill, A. V.; Kwiatkowski, D.: Tumor necrosis factor promoter polymorphism and susceptibility to lepromatous leprosy. J. Infect. Dis. 176: 530-532, 1997.
[0031011]21599.Ruuls, S. R.; Sedgwick, J. D.: Unlinking tumor necrosis factor biology from the major histocompatibility complex: lessons from human genetics and animal models. Am. J. Hum. Genet. 65: 294-301, 1999.
[0031012]21600.Spies, T.; Morton, C. C.; Nedospasov, S. A.; Fiers, W.; Pious, D.; Strominger, J. L.: Genes for the tumor necrosis factors alpha and beta are linked to the human major histocompatibility complex. Proc. Nat. Acad. Sci. 83: 8699-8702, 1986.
[0031013]21601.van Hensbroek, M. B.; Palmer, A.; Onyiorah, E.; Schneider, G.; Jaffar, S.; Dolan, G.; Memming, H.; Frenkel, J.; Enwere, G.; Bennett, S.; Kwiatkowski, D.; Greenwood, B.: The effect of a monoclonal antibody to tumor necrosis factor on survival from childhood cerebral malaria. J. Infect. Dis. 174: 1091-1097, 1996.
[0031014]21602.Sashio, H.; Tamura, K.; Ito, R.; Yamamoto, Y.; Bamba, H.; Kosaka, T.; Fukui, S.; Sawada, K.; Fukuda, Y.; Tamura, K.; Satomi, M.; Shimoyama, T.; Furuyama, J.: Polymorphisms of the TNF gene and the TNF receptor superfamily member 1B gene are associated with susceptibility to ulcerative colitis and Crohn's disease, respectively. Immunogenetics 53: 1020-1027, 2002.
[0031015]21603.Van Ostade, X.; Vandenabeele, P.; Everaerdt, B.; Loetscher, H.; Gentz, R.; Brockhaus, M.; Lesslauer, W.; Tavernier, J.; Brouckaert, P.; Fiers, W.: Human TNF mutants with selective activity on the p55 receptor. Nature 361: 266-269, 1993.
[0031016]21604.Wang, A. M.; Creasey, A. A.; Ladner, M. B.; Lin, L. S.; Strickler, J.; Van Arsdell, J. N.; Yamamoto, R.; Mark, D. F.: Molecular cloning of the complementary DNA for human tumor necrosis factor. Science 228: 149-154, 1985.
[0031017]21605.Wilson, A. G.; Symons, J. A.; McDowell, T. L.; et al: Effects of a polymorphism in the human tumor necrosis factor alpha promoter on transcriptional activation. Proc. Nat. Acad. Sci. 94: 3195-3199, 1997.
[0031018]21606.Winchester, E. C.; Millwood, I. Y.; Rand, L.; Penny, M. A.; Kessling, A. M.: Association of the TNF-alpha-308 (G-A) polymorphism with self-reported history of childhood asthma. Hum. Genet. 107: 591-596, 2000.
[0031019]21607.Witte, J. S.; Palmer, L. J.; O'Connor, R. D.; Hopkins, P. J.; Hall, J. M.: Relation between tumour necrosis factor polymorphism TNF-alpha-308 and risk of asthma. Europ. J. Hum. Genet. 10: 82-85, 2002.
[0031020]21608.Peter, D.; Finn, J. P.; Klisak, I.; Liu, Y.; Kojis, T.; Heinzmann, C.; Roghani, A.; Sparkes, R. S.; Edwards, R. H.: Chromosomal localization of the human vesicular amine transporter genes. Genomics 18: 720-723, 1993.
[0031021]21609.Roghani, A.; Welch, C.; Xia, Y.-R.; Liu, Y.; Peter, D.; Finn, J. P.; Edwards, R. H.; Lusis, A. J.: Assignment of the mouse vesicular monoamine transporter genes, Slc18a1 and Slc18a2, to chromosomes 8 and 19 by linkage analysis. Mammalian Genome 7: 393-394, 1996.
[0031022]21610.Lania, L.; Donti, E.; Pannuti, A.; Pascucci, A.; Pengue, G.; Feliciello, I.; La Mantia, G.; Lanfrancone, L.; Pelicci, P.-G.: cDNA isolation, expression analysis, and chromosomal localization of two human zinc finger genes. Genomics 6: 333-340, 1990.
[0031023]21611.Han, Z.-G.; Zhang, Q.-H.; Ye, M.; Kan, L.-X.; Gu, B.-W.; He, K.-L.; Shi, S.-L.; Zhou, J.; Fu, G.; Mao, M.; Chen, S.-J.; Yu, L.; Chen, Z.: Molecular cloning of six novel Kruppel-like zinc finger genes from hematopoietic cells and identification of a novel transregulatory domain KRNB. J. Biol. Chem. 274: 35741-35748, 1999.
[0031024]21612.Rousseau-Merck, M. F.; Huebner, K.; Berger, R.; Thiesen, H. J. : Chromosomal localization of two human zinc finger protein genes, ZNF24 (KOX17) and ZNF29 (KOX26), to 18q12 and 17p13-p12, respectively. Genomics 9: 154-161, 1991.
[0031025]21613.Seite, P.; Huebner, K.; Rousseau-Merck, M. F.; Berger, R.; Thiesen, H. J.: Two human genes encoding zinc finger proteins, ZNF12 (KOX3) and ZNF26 (KOX20), map to chromosomes 7p22-p21 and 12q24.33, respectively. Hum. Genet. 86: 585-590, 1991.
[0031026]21614.King, R. A.: Personal Communication. Minneapolis, Minn. 12/31/1992.
[0031027]21615.Corral, J.; Martin, C.; Perez, R.; Sanchez, I.; Mories, M. T.; San Millan, J. L.; Miralles, J. M.; Gonzalez-Sarmiento, R.: Thyroglobulin gene point mutation associated with non-endemic simple goitre. Lancet 341: 462-464, 1993.
[0031028]21616.Zinman, B.; Hanley, A. J. G.; Harris, S. B.; Kwan, J.; Fantus, I. G.: Circulating tumor necrosis factor-alpha concentrations in a Native Canadian population with high rates of type 2 diabetes mellitus. J. Clin. Endocr. Metab. 84: 272-278, 1999.
[0031029]21617.de Vijlder, J. J. M.; Baas, F.; Koch, C. A. M.; Kok, K.; Gons, M. H.: Autosomal dominant inheritance of a thyroglobulin abnormality suggests cooperation of subunits in hormone formation. Ann. Endocr. 44: 36 only, 1983.
[0031030]21618.Hishinuma, A.; Takamatsu, J.; Ohyama, Y.; Yokozawa, T.; Kanno, Y.; Kuma, K.; Yoshida, S.; Matsuura, N.; Ieiri, T.: Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous goiter. J. Clin. Endocr. Metab. 84: 1438-1444, 1999.
[0031031]21619.Ieiri, T.; Cochaux, P.; Targovnik, H. M.; Suzuki, M.; Shimoda, S.-I.; Perret, J.; Vassart, G.: A 3-prime splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism. J. Clin. Invest. 88: 1901-1905, 1991.
[0031032]21620.Kim, P. S.; Ding, M.; Menon, S.; Jung, C.-G.; Cheng, J.-M.; Miyamoto, T.; Li, B.; Furudate, S.; Agui, T.: A missense mutation G2320R in the thyroglobulin gene causes non-goitrous congenital primary hypothyroidism in the WIC-rdw rat. Molec. Endocr. 14: 1944-1953, 2000.
[0031033]21621.Kim, P. S.; Hossain, S. A.; Park, Y.-N.; Lee, I.; Yoo, S.-E.; Arvan, P.: A single amino acid change in the acetylcholinesterase-like domain of thyroglobulin causes congenital goiter with hypothyroidism in the cog/cog mouse: a model of human endoplasmic reticulum storage disease. Proc. Nat. Acad. Sci. 95: 9909-9913, 1998.
[0031034]21622.Kok, K.; van Dijk, J. E.; Sterk, A.; Baas, F.; van Ommen, G.-J. B.; de Vijlder, J. J. M.: Autosomal recessive inheritance of goiter in Dutch goats. J. Hered. 78: 298-300, 1987.
[0031035]21623.Landegent, J. E.; Jansen in de Wal, N.; van Ommen, G.-J. B.; Baas, F.; de Vijlder, J. J. M.; van Duijn, P.; van der Ploeg, M.: Chromosomal localization of a unique gene by nonautoradiographic in situ hybridization. Nature 317: 175-177, 1985.
[0031036]21624.Lazar, V.; Bidart, J.-M.; Caillou, B.; Mahe, C.; Lacroix, L.; Filetti, S.; Schlumberger, M.: Expression of the Na(+)/I(-) symporter gene in human thyroid tumors: a comparison study with other thyroid-specific genes. J. Clin. Endocr. Metab. 84: 3228-3234, 1999.
[0031037]21625.Malthiery, Y.; Lissitzky, S.: Primary structure of human thyroglobulin deduced from the sequence of its 8448-base complementary DNA. Europ. J. Biochem. 165: 491-498, 1987.
[0031038]21626.Medeiros-Neto, G.; Bunduki, V.; Tomimori, E.; Gomes, S.; Knobel, M.; Martin, R. T.; Zugaib, M.: Prenatal diagnosis and treatment of dyshormonogenetic fetal goiter due to defective thyroglobulin synthesis. J. Clin. Endocr. Metab. 82: 4239-4242, 1997.
[0031039]21627.Ricketts, M. H.; Pohl, V.; de Martynoff, G.; Boyd, C. D.; Bester, A. J.; Van Jaarsveld, P. P.; Vassart, G.: Defective splicing of thyroglobulin gene transcripts in the congenital goitre of the Afrikander cattle. EMBO J. 4: 731-737, 1985.
[0031040]21628.Ricketts, M. H.; Simons, M. J.; Parma, J.; Mercken, L.; Dong, Q.; Vassart, G.: A nonsense mutation causes hereditary goitre in the Afrikander cattle and unmasks alternative splicing of thyroglobulin transcripts. Proc. Nat. Acad. Sci. 84: 3181-3184, 1987.
[0031041]21629.Savagner, F.; Rodien, P.; Reynier, P.; Rohmer, V.; Bigorgne, J.-C.; Malthiery, Y.: Analysis of Tg transcripts by real-time RT-PCR in the blood of thyroid cancer patients. J. Clin. Endocr. Metab. 87: 635-639, 2002.
[0031042]21630.Targovnik, H.; Propato, F.; Varela, V.; Wajchenberg, B.; Knobel, M.; D'Abronzo, H. F.; Medeiros-Neto, G.: Low levels of thyroglobulin messenger ribonucleic acid in congenital goitrous hypothyroidism with defective thyroglobulin synthesis. J. Clin. Endocr. Metab. 69: 1137-1147, 1989.
[0031043]21631.Targovnik, H. M.; Frechtel, G. D.; Mendive, F. M.; Vono, J.; Cochaux, P.; Vassart, G.; Medeiros-Neto, G.: Evidence for the segregation of three different mutated alleles of the thyroglobulin gene in a Brazilian family with congenital goiter and hypothyroidism. Thyroid 8: 291-297, 1998.
[0031044]21632.Targovnik, H. M.; Medeiros-Neto, G.; Varela, V.; Cochaux, P.; Wajchenberg, B. L.; Vassart, G.: A nonsense mutation causes human hereditary congenital goiter with preferential production of a 171-nucleotide-deleted thyroglobulin ribonucleic acid messenger. J. Clin. Endocr. Metab. 77: 210-215, 1993.
[0031045]21633.Targovnik, H. M.; Vono, J.; Billerbeck, A. E. C.; Cerrone, G. E.; Varela, V.; Mendive, F.; Wajchenberg, B. L.; Medeiros-Neto, G. : A 138-nucleotide deletion in the thyroglobulin ribonucleic acid messenger in a congenital goiter with defective thyroglobulin synthesis. J. Clin. Endocr. Metab. 80: 3356-3360, 1995.
[0031046]21634.Taylor, B. A.; Rowe, L.: The congenital goiter mutation is linked to the thyroglobulin gene in the mouse. Proc. Nat. Acad. Sci. 84: 1986-1990, 1987.
[0031047]21635.van de Graaf, S. A. R.; Ris-Stalpers, C.; Veenboer, G. J. M.; Cammenga, M.; Santos, C.; Targovnik, H. M.; de Vijlder, J. J. M.; Medeiros-Neto, G.: A premature stopcodon in thyroglobulin messenger RNA results in familial goiter moderate hypothyroidism. J. Clin. Endocr. Metab. 84: 2537-2542, 1999.
[0031048]21636.Van Ommen, G.-J. B.; Baas, F.; Arnberg, A. C.; Pearson, P. L.; De Vijlder, J. J. M.: Chromosome mapping and polymorphism study of the human thyroglobulin gene. (Abstract) Cytogenet. Cell Genet. 37: 562 only, 1984.
[0031049]21637.Van Ommen, G. B.: Merging autosomal dominance and recessivity. (Letter) Am. J. Hum. Genet. 41: 689-691, 1987.
[0031050]21638.Yoshida, S.; Takamatsu, J.; Kuma, K.; Murakami, Y.; Sakane, S.; Katayama, S.; Tarutani, O.; Ohsawa, N.: A variant of adenomatous goiter with characteristic histology and possible hereditary thyroglobulin abnormality. J. Clin. Endocr. Metab. 81: 1961-1966, 1996.
[0031051]21639.Spurr, N. K.; Goodfellow, P. N.; Sheer, D.; Bodmer, W. F.; Vennstrom, B.: Mapping of cellular oncogenes: ERBA1 is on chromosome 17. (Abstract) Cytogenet. Cell Genet. 37: 591 only, 1984.
[0031052]21640.Thompson, C. C.; Weinberger, C.; Lebo, R.; Evans, R. M.: Identification of a novel thyroid hormone receptor expressed in the mammalian central nervous system. Science 237: 1610-1614, 1987.
[0031053]21641.Weinberger, C.; Thompson, C. C.; Ong, E. S.; Lebo, R.; Gruol, D. J.; Evans, R. M.: The c-erb-A gene encodes a thyroid hormone receptor. Nature 324: 641-646, 1986.
[0031054]21642.Zabel, B. U.; Fournier, R. E. K.; Lalley, P. A.; Naylor, S. L.; Sakaguchi, A. Y.: Cellular homologs of the avian erythroblastosis virus erb-A and erb-B genes are syntenic in mouse but asyntenic in man. Proc. Nat. Acad. Sci. 81: 4874-4878, 1984.
[0031055]21643.Elchebly, M.; Payette, P.; Michaliszyn, E.; Cromlish, W.; Collins, S.; Loy, A. L.; Normandin, D.; Cheng, A.; Himms-Hagen, J.; Chan, C.-C.; Ramachandran, C.; Gresser, M. J.; Tremblay, M. L.; Kennedy, B. P. : Increased insulin sensitivity and obesity resistance in mice lacking the protein tyrosine phosphatase-1B gene. Science 283: 1544-1548, 1999.
[0031056]21644.Forsell, P. K. A. L.; Boie, Y.; Montalibet, J.; Collins, S.; Kennedy, B. P.: Genomic characterization of the human and mouse protein tyrosine phosphatase-1B genes. Gene 260: 145-153, 2000.
[0031057]21645.Gu, H. F.; Almgren, P.; Lindholm, E.; Frittitta, L.; Pizzuti, A.; Trischitta, V.; Groop, L. C.: Association between the human glycoprotein PC-1 gene and elevated glucose and insulin levels in paired-sibling analysis. Diabetes 49: 1601-1603, 2000.
[0031058]21646.Haj, F. G.; Verveer, P. J.; Squire, A.; Neel, B. G.; Bastiaens, P. I. H.: Imaging sites of receptor dephosphorylation by PTP1B on the surface of the endoplasmic reticulum. Science 295: 1708-1711, 2002.
[0031059]21647.Jia, Z.; Barford, D.; Flint, A. J.; Tonks, N. K.: Structural basis for phosphotyrosine peptide recognition by protein tyrosine phosphatase 1B. Science 268: 1754-1758, 1995.
[0031060]21648.Kennedy, B. P.; Ramachandran, C.: Protein tyrosine phosphatase-1B in diabetes. Biochem. Pharm. 60: 877-883, 2000.
[0031061]21649.Mok, A.; Cao, H.; Zinman, B.; Hanley, A. J. G.; Harris, S. B.; Kennedy, B. P.; Hegele, R. A.: A single nucleotide polymorphism in protein tyrosine phosphatase PTP-1B is associated with protection from diabetes or impaired glucose tolerance in Oji-Cree. J. Clin. Endocr. Metab. 87: 724-727, 2002.
[0031062]21650.Tonks, N. K.; Diltz, C. D.; Fischer, E. H.: Purification of the major protein-tyrosinephosphatases of human placenta. J. Biol. Chem. 263: 6722-6730, 1988.
[0031063]21651.Barnea, G.; Silvennoinen, O.; Shaanan,B.; Honegger, A. M.; Canoll, P. D.; D'Eustachio, P.; Morse, B.; Levy, J. B.; Laforgia, S.; Huebner, K.; Musacchio, J. M.; Sap, J.; Schlessinger, J.: Identification of a carbonic anhydrase-like domain in the extracellular region of RPTPgamma defines a new subfamily of receptor tyrosine phosphatases. Molec. Cell. Biol. 13: 1497-1506, 1993.
[0031064]21652.Kastury, K.; Ohta, M.; Lasota, J.; Moir, D.; Dorman, T.; LaForgia, S.; Druck, T.; Huebner, K.: Structure of the human receptor tyrosine phosphatase gamma gene (PTPRG) and relation to the familial RCC t(3;8) chromosome translocation. Genomics 32: 225-235, 1996.
[0031065]21653.LaForgia, S.; Morse, B.; Levy, J.; Barnea, G.; Cannizzaro, L. A.; Li, F.; Nowell, P. C.; Boghosian-Sell, L.; Glick, J.; Weston, A.; Harris, C. C.; Drabkin, H.; Patterson, D.; Croce, C. M.; Schlessinger, J.; Huebner, K.: Receptor protein-tyrosine phosphatase gamma is a candidate tumor suppressor gene at human chromosome region 3p21. Proc. Nat. Acad. Sci. 88: 5036-5040, 1991.
[0031066]21654.Latif, F.; Tory, K.; Modi, W.; Geil, L.; LaForgia, S.; Huebner, K.; Zbar, B.; Lerman, M. I.: A Mspl polymorphism and linkage mapping of the human protein-tyrosine phosphatase G (PTPRG) gene. Hum. Molec. Genet. 2: 91, 1993.
[0031067]21655.Cool, D. E.; Tonks, N. K.; Charbonneau, H.; Walsh, K. A.; Fischer, E. H.; Krebs, E. G.: cDNA isolated from a human T-cell library encodes a member of the protein-tyrosine-phosphatase family. Proc. Nat. Acad. Sci. 86: 5257-5261, 1989.
[0031068]21656.Johnson, C. V.; Cool, D. E.; Glaccum, M. B.; Green, N.; Fischer, E. H.; Bruskin, A.; Hill, D. E.; Lawrence, J. B.: Isolation and mapping of human T-cell protein tyrosine phosphatase sequences: localization of genes and pseudogenes discriminated using fluorescence hybridization with genomic versus cDNA probes. Genomics 16: 619-629, 1993.
[0031069]21657.Sakaguchi, A. Y.; Sylvia, V. L.; Martinez, L.; Lalley, P. A.; Shows, T. B.; Han, E. S.; Smith, E. A.; Ghosh Choudhury, G.: Assignment of tyrosine-specific T-cell phosphatase to conserved syntenic groups on human chromosome 18 and mouse chromosome 18. (Abstract) Cytogenet. Cell Genet. 58: 2014-2015, 1991.
[0031070]21658.Sakaguchi, A. Y.; Sylvia, V. L.; Martinez, L.; Smith, E. A.; Han, E. S.; Lalley, P. A.; Shows, T. B.; Ghosh Choudhury, G.: Assignment of tyrosine-specific T-cell phosphatase to conserved syntenic groups on human chromosome 18 and mouse chromosome 18. Genomics 12: 151-154, 1992.
[0031071]21659.Adachi, M.; Sekiya, M.; Arimura, Y.; Takekawa, M.; Itoh, F.; Hinoda, Y.; Imai, K.; Yachi, A.: Protein-tyrosine phosphatase expression in pre-B cell NALM-6. Cancer Res. 52: 737-740, 1992.
[0031072]21660.Adachi, M.; Sekiya, M.; Isobe, M.; Kumura, Y.; Ogita, Z.; Hinoda, Y.; Imai, K.; Yachi, A.: Molecular cloning and chromosomal mapping of a human protein-tyrosine phosphatase LC-PTP. Biochem. Biophys. Res. Commun. 186: 1607-1615, 1992.
[0031073]21661.Zanke, B.; Suzuki, H.; Kishihara, K.; Mizzen, L.; Minden, M.; Pawson, A.; Mak, T. W.: Cloning and expression of an inducible lymphoid-specific, protein tyrosine phosphatase (HePTPase). Europ. J. Immun. 22: 235-239, 1992.
[0031074]21662.Schols, L.; Szymanski, S.; Peters, S.; Przuntek, H.; Epplen, J. T.; Hardt, C.; Riess, O.: Genetic background of apparently idiopathic sporadic cerebellar ataxia. Hum. Genet. 107: 132-137, 2000.
[0031075]21663.Virgilio, L.; Isobe, M.; Narducci, M. G.; Carotenuto, P.; Camerini, B.; Kurosawa, N.; ar-Rushdi, A.; Croce, C. M.; Russo, G.: Chromosome walking on the TCL1 locus involved in T-cell neoplasia. Proc. Nat. Acad. Sci. 90: 9275-9279, 1993.
[0031076]21664.Virgilio, L.; Lazzeri, C.; Bichi, R.; Nibu, K.; Narducci, M. G.; Russo, G.; Rothstein, J. L.; Croce, C. M.: Deregulated expression of TCL1 causes T cell leukemia in mice. Proc. Nat. Acad. Sci. 95: 3885-3889, 1998.
[0031077]21665.Virgilio, L.; Narducci, M. G.; Isobe, M.; Billips, L. G.; Cooper, M. D.; Croce, C. M.; Russo, G.: Identification of the TCL1 gene involved in T-cell malignancies. Proc. Nat. Acad. Sci. 91: 12530-12534, 1994.
[0031078]21666.Comp, P. C.; Nixon, R. R.; Cooper, M. R.; Esmon, C. T.: Familial protein S deficiency is associated with recurrent thrombosis. J. Clin. Invest. 74: 2082-2088, 1984.
[0031079]21667.Cooper, D. N.: Personal Communication. London, England 9/17/1993.
[0031080]21668.D'Angelo, A.; Della Valle, P.; Crippa, L.; Pattarini, E.; Grimaldi, L. M. E.; D'Angelo, S. V.: Autoimmune protein S deficiency in a boy with severe thromboembolic disease. New Eng. J. Med. 328: 1753-1757, 1993.
[0031081]21669.Dahlback, B.: Protein S and C4b-binding protein: components involved in the regulation of the protein C anticoagulant system. Thromb. Haemost. 66: 49-61, 1991.
[0031082]21670.Dahlback, B.; Stenflo, J.: High molecular weight complex in human plasma between vitamin K dependent protein S and complement component C4b-binding protein. Proc. Nat. Acad. Sci. 78: 2512-2516, 1981.
[0031083]21671.Engesser, L.; Broekmans, A. W.; Briet, E.; Brommer, E. J. P.; Bertina, R. M.: Hereditary protein S deficiency: clinical manifestations. Ann. Intern. Med. 106: 677-682, 1987.
[0031084]21672.Espinosa-Parrilla, Y.; Morell, M.; Souto, J. C.; Tirado, I.; Fontcuberta, J.; Estivill, X.; Sala, N.: Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III PS deficiency. Hum. Mutat. 14: 30-39, 1999.
[0031085]21673.Fulton, A. B.; Hansen, R. M.; Petersen, R. A.; Vanderveen, D. K.: The rod photoreceptors in retinopathy of prematurity: an electroretinographic study. Arch. Ophthal. 119: 499-505, 2001.
[0031086]21674.Girolami, A.; Simioni, P.; Lazzaro, A. R.; Pontara, E.; Ruzza, G.: Heterozygous protein-S deficiency: a study of a large kindred. Acta Haemat. 84: 162-168, 1990.
[0031087]21675.Golub, B. M.; Sibony, P. A.; Coller, B. S.: Protein S deficiency associated with central retinal artery occlusion. Arch. Ophthal. 108: 918 only, 1990.
[0031088]21676.Griffin, J. H.; Gruber, A.; Fernandez, J. A.: Reevaluation of total, free, and bound protein S and C4b-binding protein levels in plasma anticoagulated with citrate or hirudin. Blood 79: 3203-3211, 1992.
[0031089]21677.Hayashi, T.; Nishioka, J.; Shigekiyo, T.; Saito, S.; Suzuki, K. : Protein S Tokushima: abnormal molecule with a substitution of glu for lys-155 in the second epidermal growth factor-like domain of protein S. Blood 83: 683-690, 1994.
[0031090]21678.Heeb, M. J.; Rosing, J.; Bakker, H. M.; Fernandez, J. A.; Tans, G.; Griffin, J. H.: Protein S binds to and inhibits factor Xa. Proc. Nat. Acad. Sci. 91: 2728-2732, 1994.
[0031091]21679.Hoskins, J.; Norman, D. K.; Beckmann, R. J.; Long, G. L.: Cloning and characterization of human liver cDNA encoding a protein S precursor. Proc. Nat. Acad. Sci. 84: 349-353, 1987.
[0031092]21680.Kamiya, T.; Sugihara, T.; Ogata, K.; Saito, H.; Suzuki, K.; Nishioka, J.; Hashimoto, S.; Yamagata, K.: Inherited deficiency of protein S in a Japanese family with recurrent venous thrombosis: a study of three generations. Blood 67: 406-410, 1986.
[0031093]21681.Koller, H.; Stoll, G.; Sitzer, M.; Burk, M.; Schottler, B.; Freund, H-J.: Deficiency of both protein C and protein S in a family with ischemic strokes in young adults. Neurology 44: 1238-1240, 1994.
[0031094]21682.Lundwall, A.; Dackowski, W.; Cohen, E.; Shaffer, M.; Mahr, A.; Dahlback, B.; Stenflo, J.; Wydro, R.: Isolation and sequence of the cDNA for human protein S, a regulator of blood coagulation. Proc. Nat. Acad. Sci. 83: 6716-6720, 1986.
[0031095]21683.Mahasandana, C.; Suvatte, V.; Chuansumrit, A.; Marlar, R. A.; Manco-Johnson, M. J.; Jacobson, L. J.; Hathaway, W. E.: Homozygous protein S deficiency in an infant with purpura fulminans. J. Pediat. 117: 750-753, 1990.
[0031096]21684.Maillard, C.; Berruyer, M.; Serre, C. M.; Dechavanne, M.; Delmas, P. D.: Protein-S, a vitamin K-dependent protein, is a bone matrix component synthesized and secreted by osteoblasts. Endocrinology 130: 1599-1604, 1992.
[0031097]21685.Makris, M.; Leach, M.; Beauchamp, N. J.; Daly, M. E.; Cooper, P. C.; Hampton, K. K.; Bayliss, P.; Peake, I. R.; Miller, G. J.; Preston, F. E.: Genetic analysis, phenotypic diagnosis, and risk of venous thrombosis in families with inherited deficiencies of protein S. Blood 95: 1935-1941, 2000.
[0031098]21686.Malnick, S. D. H.; Sthoeger, Z. M.: Autoimmune protein S deficiency. New Eng. J. Med. 329: 1898 only, 1993.
[0031099]21687.Mannucci, P. M.; Valsecchi, C.; Krachmalnicoff, A.; Faioni, E. M.; Tripodi, A.: Familial dysfunction of protein S. Thromb. Haemost. 62: 763-766, 1989.
[0031100]21688.Mintz-Hittner, H. A.; Miyashiro, M. J.; Knight-Nanan, D. M.; O'Malley, R. E.; Marlar, R. A.: Vitreoretinal findings similar to retinopathy of prematurity in infants with compound heterozygous protein S deficiency. Ophthalmology 106: 1525-1530, 1999.
[0031101]21689.Naylor, S. L.; Marshall, A.; Solomon, A.; Long, G.: Mapping human protein C and protein S to chromosomes 2 and 3, respectively. (Abstract) Cytogenet. Cell Genet. 46: 669 only, 1987.
[0031102]21690.Pan, E. Y.; Gomperts, E. D.; Millen, R.; Gilsanz, V.: Bone mineral density and its association with inherited protein S deficiency. Thromb. Res. 58: 221-231, 1990.
[0031103]21691.Phillips, W. G.; Marsden, J. R.; Hill, F. G.: Purpura fulminans due to protein S deficiency following chickenpox. Brit. J. Derm. 127: 30-32, 1992.
[0031104]21692.Ploos van Amstel, H. K.; Huisman, M. V.; Reitsma, P. H.; ten Cate, J.; Bertina, R. M.: Partial protein S gene deletion in a family with hereditary thrombophilia. Blood 73: 479-483, 1989.
[0031105]21693.Ploos van Amstel, H. K.; Reitsma, P. H.; Bertina, R. M.: The human protein S locus: identification of the PS-alpha gene as a site of liver protein S messenger RNA synthesis. Biochem. Biophys. Res. Commun. 157: 1033-1038, 1988.
[0031106]21694.Ploos van Amstel, J. K.; van der Zanden, A. L.; Bakker, E.; Reitsma, P. H.; Bertina, R. M.: Two genes homologous with human protein S cDNA are located on chromosome 3. Thromb. Haemost. 58: 982-987, 1987.
[0031107]21695.Reitsma, P. H.; Ploos van Amstel, H. K.; Bertina, R. M.: Three novel mutations in five unrelated subjects with hereditary protein S deficiency type I. J. Clin. Invest. 93: 486-492, 1994.
[0031108]21696.Sacco, R. L.; Owen, J.; Mohr, J. P.; Tatemichi, T. K.; Grossman, B. A.: Free protein S deficiency: a possible association with cerebrovascular occlusion. Stroke 20: 1657-1661, 1989.
[0031109]21697.Sas, G.; Blasko, G.; Petro, I.; Griffin, J. H.: A protein S deficient family with portal vein thrombosis. (Letter) Thromb. Haemost. 54: 724 only, 1985.
[0031110]21698.Chan, J. Y.; Cheung, M.-C.; Moi, P.; Chan, K.; Kan, Y. W.: Chromosomal localization of the human NF-E2 family of bZIP transcription factors by fluorescence in situ hybridization. Hum. Genet. 95: 265-269, 1995.
[0031111]21699.Chan, J. Y.; Han, X.-L.; Kan, Y. W.: Cloning of Nrf1, an NF-E2-related transcription factor, by genetic selection in yeast. Proc. Nat. Acad. Sci. 90: 11371-11375, 1993.
[0031112]21700.Chan, J. Y.; Kwong, M.; Lu, R.; Chang, J.; Wang, B.; Yen, T. S. B.; Kan, Y. W.: Targeted disruption of the ubiquitous CNC-bZIP transcription factor, Nrf-1, results in anemia and embryonic lethality in mice. EMBO J. 17: 1779-1787, 1998.
[0031113]21701.Luna, L.; Johnsen, O.; Skartlien, A.; Pedeutour, F.; Turc-Carel, C.; Prydz, H.; Kolsto, A.-B.: Molecular cloning of a putative novel human bZIP transcription factor on chromosome 17q22. Genomics 22: 553-562, 1994.
[0031114]21702.Luna, L.; Johnsen, O.; Skartlien, A. H.; Pedeutour, F.; Turc-Carel, C.; Prydz, H.; Kolsto, A.-B.: Molecular cloning of a putative novel human bZIP transcription factor on chromosome 17q22. Genomics 22: 553-562, 1994.
[0031115]21703.McKie, J.; Johnstone, K.; Mattei, M.-G.; Scambler, P.: Cloning and mapping of murine Nfe2l1. Genomics 25: 716-719, 1995.
[0031116]21704.McKie, J.; Scambler, P. J.: The Nfe2l1 gene maps to distal mouse chromosome 11. Mammalian Genome 7: 89-90, 1996.
[0031117]21705.Dryja, T. P.; Berson, E. L.; Rao, V. R.; Oprian, D. D.: Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness. Nature Genet. 4: 280-283, 1993.
[0031118]21706.Gal, A.; Xu, S.; Piczenik, Y.; Eiberg, H.; Duvigneau, C.; Schwinger, E.; Rosenberg, T.: Gene for autosomal dominant congenital stationary night blindness maps to the same region as the gene for the beta-subunit of the rod photoreceptor cGMP phosphodiesterase (PDEB) in chromosome 4p16.3. Hum. Molec. Genet. 3: 323-325, 1994.
[0031119]21707.Alfano, J. E.; Berger, J. P.: Retinitis pigmentosa, ophthalmoplegia, and spastic quadriplegia. Am. J. Ophthal. 43: 231-240, 1957.
[0031120]21708.Anttinen, A.; Nikoskelainen, E.; Marttila, R. J.; Grenman, R.; Falck, B.; Aarnisalo, E.; Kalimo, H.: Familial olivopontocerebellar atrophy with macular degeneration: a separate entity among the olivopontocerebellar atrophies. Acta Neurol. Scand. 73: 180-190, 1986.
[0031121]21709.Benomar, A.; Krols, L.; Stevanin, G.; Cancel, G.; LeGuern, E.; David, G.; Ouhabi, H.; Martin, J.-J.; Durr, A.; Zaim, A.; Ravise, N.; Busque, C.; Penet, C.; Van Regemorter, N.; Weissenbach, J.; Yahyaoui, M.; Chkili, T.; Agid, Y.; Van Broeckhoven, C.; Brice, A.: The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1. Nature Genet. 10: 84-88, 1995.
[0031122]21710.Benomar, A.; Le Guern, E.; Durr, A.; Ouhabi, H.; Stevanin, G.; Yahyaoui, M.; Chkili, T.; Agid, Y.; Brice, A.: Autosomal-dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I. Ann. Neurol. 35: 439-444, 1994.
[0031123]21711.Bjork, A.; Lindblom, U.; Wadensten, L.: Retinal degeneration in hereditary ataxia. J. Neurol. Neurosurg. Psychiat. 19: 186-193, 1956.
[0031124]21712.Carpenter, S.; Schumacher, G. A.: Familial infantile cerebellar atrophy associated with retinal degeneration. Arch. Neurol. 14: 82-94, 1966.
[0031125]21713.Cooles, P.; Michaud, R.; Best, P. V.: A dominantly inherited progressive disease in a black family characterized by cerebellar and retinal degeneration, external ophthalmoplegia and abnormal mitochondria. J. Neurol. Sci. 87: 275-288, 1988.
[0031126]21714.Cruysberg, J. R. M.; Eerola, K. U.; Vrijland, H. R.; Aandekerk, A. L.; Kremer, H. P. H.; Deutman, A. F.: Autosomal recessive cerebellar ataxia with bull's-eye macular dystrophy. Am. J. Ophthal. 133: 410-413, 2002.
[0031127]21715.David, G.; Abbas, N.; Stevanin, G.; Durr, A.; Yvert, G.; Cancel, G.; Weber, C.; Imbert, G.; Saudou, F.; Antoniou, E.; Drabkin, H.; Gemmill, R.; Giunti, P.; Benomar, A.; Wood, N.; Ruberg, M.; Agid, Y.; Mandel, J.-L.; Brice, A.: Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nature Genet. 17: 65-70, 1997.
[0031128]21716.David, G.; Giunti, P.; Abbas, N.; Coullin, P.; Stevanin, G.; Horta, W.; Gemmill, R.; Weissenbach, J.; Wood, N.; Cunha, S.; Drabkin, H.; Harding, A. E.; Agid, Y.; Brice, A.: The gene for autosomal dominant cerebellar ataxia type II is located in a 5-cM region in 3p12-p13: genetic and physical mapping of the SCA7 locus. Am. J. Hum. Genet. 59: 1328-1336, 1996.
[0031129]21717.Duinkerke-Eerola, K. U.; Cruysberg, J. R. M.; Deutman, A. F.: Atrophic maculopathy associated with hereditary ataxia. Am. J. Ophthal. 90: 597-603, 1980.
[0031130]21718.Enevoldson, T. P.; Sanders, M. D.; Harding, A. E.: Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy: a clinical and genetic study of eight families. Brain 117: 445-460, 1994.
[0031131]21719.Foster, J. B.; Ingram, T. T. S.: Familial cerebro-macular degeneration and ataxia. J. Neurol. Neurosurg. Psychiat. 25: 63-68, 1962.
[0031132]21720.Froment, J.; Bonnet, P.; Colrat, A.: Heredo-degenerations retinienne et spinocerebelleuse: variantes ophtalmoscopiques et neurologiques presentees par trois generations successives. J. Med. Lyon 153-163, 1937.
[0031133]21721.Giunti, P.; Stevanin, G.; Worth, P. F.; David, G.; Brice, A.; Wood, N. W.: Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation. Am. J. Hum. Genet. 64: 1594-1603, 1999.
[0031134]21722.Gouw, L. G.; Digre, K. B.; Harris, C. P.; Haines, J. H.; Ptacek, L. J.: Autosomal dominant cerebellar ataxia with retinal degeneration: clinical, neuropathologic, and genetic analysis of a large kindred. Neurology 44: 1441-1447, 1994.
[0031135]21723.Gouw, L. G.; Kaplan, C. D.; Haines, J. H.; Digre, K. B.; Rutledge, S. L.; Matilla, A.; Leppert, M.; Zoghbi, H. Y.; Ptacek, L. J.: Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p. Nature Genet. 10: 89-93, 1995.
[0031136]21724.Gu, W.; Wang, Y.; Liu, X.; Zhou, B.; Zhou, Y.; Wang, G.: Molecular and clinical study of spinocerebellar ataxia type 7 in Chinese kindreds. Arch. Neurol. 57: 1513-1518, 2000.
[0031137]21725.Halsey, J. H., Jr.; Scott, T. R.; Farmer, T. W.: Adult hereditary cerebelloretinal degeneration. Neurology 17: 87-90, 1967.
[0031138]21726.Sobetzko, D.; Eich, G.; Kalff-Suske, M.; Grzeschik, K.-H.; Superti-Furga, A.: Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individual. Am. J. Med. Genet. 90: 239-242, 2000.
[0031139]21727.Stroschein, S. L.; Wang, W.; Zhou, S.; Zhou, Q.; Luo, K.: Negative feedback regulation of TGF-beta signaling by the SnoN oncoprotein. Science 286: 771-774, 1999.
[0031140]21728.Goldblum, S. E.; Ding, X.; Funk, S. E.; Sage, E. H.: SPARC (secreted protein acidic and rich in cysteine) regulates endothelial cell shape and barrier function. Proc. Nat. Acad. Sci. 91: 3448-3452, 1994.
[0031141]21729.Lossie, A. C.; Gordon, D. F.; Camper, S. A.: Localization of thyrotropin-releasing hormone receptor and thyrotroph embryonic factor on mouse chromosome 15. Mammalian Genome 4: 621-623, 1993.
[0031142]21730.Bongarzone, I.; Butti, M. G.; Coronelli, S.; Borrello, M. G.; Santoro, M.; Mondellini, P.; Pilotti, S.; Fusco, A.; Della Porta, G.; Pierotti, M. A.: Frequent activation of ret protooncogene by fusion with a new activating gene in papillary thyroid carcinomas. Cancer Res. 54: 2979-2985, 1994.
[0031143]21731.Bongarzone, I.; Butti, M. G.; Fugazzola, L.; Pacini, F.; Pinchera, A.; Vorontsova, T. V.; Demidchik, E. P.; Pierotti, M. A.: Comparison of the breakpoint regions of ELE1 and RET genes involved in the generation of RET/PTC3 oncogene in sporadic and in radiation-associated papillary thyroid carcinomas. Genomics 42: 252-259, 1997.
[0031144]21732.Klein, M.; Vignaud, J.-M.; Hennequin, V.; Toussaint, B.; Bresler, L.; Plenat, F.; Leclere, J.; Duprez, A.; Weryha, G.: Increased expression of the vascular endothelial growth factor is a pejorative prognosis marker in papillary thyroid carcinoma. J. Clin. Endocr. Metab. 86: 656-658, 2001.
[0031145]21733.Katyal, S. L.; Singh, G.; Locker, J.: Characterization of a second human pulmonary surfactant-associated protein SP-A gene. Am. J. Resp. Cell Molec. Biol. 6: 446-452, 1992.
[0031146]21734.Ramet, M.; Lofgren, J.; Albo, O.-P.; Hallman, M.: Surfactant protein-A gene locus associated with recurrent otitis media. J. Pediat. 138: 266-268, 2001.
[0031147]21735.Mignon, C.; Okada, A.; Mattei, M. G.; Basset, P.: Assignment of the human membrane-type matrix metalloproteinase (MMP14) gene to 14q11-q12 by in situ hybridization. Genomics 28: 360-361, 1995.
[0031148]21736.Wilson, C. L.; Ouellette, A. J.; Satchell, D. P.; Ayabe, T.; Lopez-Boado, Y. S.; Stratman, J. L.; Hultgren, S. J.; Matrisian, L. M.; Parks, W. C.: Regulation of intestinal alpha-defensin activation by the metalloproteinase matrilysin in innate host defense. Science 286: 113-117, 1999.
[0031149]21737.Inglehearn, C. F.; Bashir, R.; Lester, D. H.; Jay, M.; Bird, A. C.; Bhattacharya, S. S.: A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa. Am. J. Hum. Genet. 48: 26-30, 1991.
[0031150]21738.Inglehearn, C. F.; Keen, T. J.; Bashir, R.; Jay, M.; Fitzke, F.; Bird, A. C.; Crombie, A.; Bhattacharya, S.: A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa. Hum. Molec. Genet. 1: 41-45, 1992.
[0031151]21739.Inglehearn, C. F.; Lester, D. H.; Bashir, R.; Atif, U.; Keen, T. J.; Sertedaki, A.; Lindsey, J.; Jay, M.; Bird, A. C.; Farrar, G. J.; Humphries, P.; Bhattacharya, S. S.: Recombination between rhodopsin and locus D3S47 (C17) in rhodopsin retinitis pigmentosa families. Am. J. Hum. Genet. 50: 590-597, 1992.
[0031152]21740.Keen, T. J.; Inglehearn, C. F.; Lester, D. H.; Bashir, R.; Jay, M.; Bird, A. C.; Jay, B.; Bhattacharya, S. S.: Autosomal dominant retinitis pigmentosa: four new mutations in rhodopsin, one of them in the retinal attachment site. Genomics 11: 199-205, 1991.
[0031153]21741.Khorana, H. G.: Rhodopsin, photoreceptor of the rod cell: an emerging pattern for structure and function. J. Biol. Chem. 267: 1-4, 1992.
[0031154]21742.Kijas, J. W.; Cideciyan, A. V.; Aleman, T. S.; Pianta, M. J.; Pearce-Kelling, S. E.; Miller, B. J.; Jacobson, S. G.; Aguirre, G. D.; Acland, G. M.: Naturally occurring rhodopsin mutation in the dog causes retinal dysfunction and degeneration mimicking human dominant retinitis pigmentosa. Proc. Nat. Acad. Sci. 99: 6328-6333, 2002.
[0031155]21743.Kiselev, A.; Socolich, M.; Vinos, J.; Hardy, R. W.; Zuker, C. S.; Ranganathan, R.: A molecular pathway for light-dependent photoreceptor apoptosis in Drosophila. Neuron 28: 139-152, 2000.
[0031156]21744.Kranich, H.; Bartkowski, S.; Denton, M. J.; Krey, S.; Dickinson, P.; Duvigneau, C.; Gal, A.: Autosomal dominant 'sector' retinitis pigmentosa due to a point mutation predicting an asn15-toser substitution of rhodopsin. Hum. Molec. Genet. 2: 813-814, 1993.
[0031157]21745.Kumar-Singh, R.; Wang, H.; Humphries, P.; Farrar, G. J.: Autosomal dominant retinitis pigmentosa: no evidence for nonallelic genetic heterogeneity on 3q. Am. J. Hum. Genet. 52: 319-326, 1993.
[0031158]21746.Kumaramanickavel, G.; Maw, M.; Denton, M. J.; John, S.; Srisailapathy Srikumari, C. R.; Orth, U.; Oehlmann, R.; Gal, A.: Missense rhodopsin mutation in a family with recessive RP. (Letter) Nature Genet. 8: 10-11, 1994.
[0031159]21747.Lem, J.; Krasnoperova, N. V.; Calvert, P. D.; Kosaras, B.; Cameron, D. A.; Nicolo, M.; Makino, C. L.; Sidman, R. L.: Morphological, physiological, and biochemical changes in rhodopsin knockout mice. Proc. Nat. Acad. Sci. 96: 736-741, 1999.
[0031160]21748.Li, T.; Sandberg, M. A.; Pawlyk, B. S.; Rosner, B.; Hayes, K. C.; Dryja, T. P.; Berson, E. L.: Effect of vitamin A supplementation on rhodopsin mutants threonine-17-to-methionine and proline-347-to-serine in transgenic mice and in cell cultures. Proc. Nat. Acad. Sci. 95: 11933-11938, 1998.
[0031161]21749.Li, T.; Snyder, W. K.; Olsson, J. E.; Dryja, T. P.: Transgenic mice carrying the dominant rhodopsin mutation P347S: evidence for defective vectorial transport of rhodopsin to the outer segments. Proc. Nat. Acad. Sci. 93: 14176-14181, 1996.
[0031162]21750.Macke, J. P.; Davenport, C. M.; Jacobson, S. G.; Hennessey, J. C.; Gonzalez-Fernandez, F.; Conway, B. P.; Heckenlively, J.; Palmer, R.; Maumenee, I. H.; Sieving, P.; Gouras, P.; Good, W.; Nathans, J. : Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin. Am. J. Hum. Genet. 53: 80-89, 1993.
[0031163]21751.Mendez, A.; Burns, M. E.; Roca, A.; Lem, J.; Wu, L.-W.; Simon, M. I.; Baylor, D. A.; Chen, J.: Rapid and reproducible deactivation of rhodopsin requires multiple phosphorylation sites. Neuron 28: 153-164, 2000.
[0031164]21752.Naash, M. I.; Hollyfield, J. G.; Al-Ubaidi, M. R.; Baehr, W.: Simulation of human autosomal dominant retinitis pigmentosa in transgenic mice expressing a mutated murine opsin gene. Proc. Nat. Acad. Sci. 90: 5499-5503, 1993.
[0031165]21753.Nathans, J.; Hogness, D. S.: Isolation and nucleotide sequence of the gene encoding human rhodopsin. Proc. Nat. Acad. Sci. 81: 4851-4855, 1984.
[0031166]21754.Nathans, J.; Piantanida, T. P.; Eddy, R. L.; Shows, T. B.; Hogness, D. S.: Molecular genetics of inherited variation in human color vision. Science 232: 203-210, 1986.
[0031167]21755.Nathans, J.; Thomas, D.; Hogness, D. S.: Molecular genetics of human color vision: the genes encoding blue, green, and red pigments. Science 232: 193-202, 1986.
[0031168]21756.Nie, Z.; Chen, S.; Kumar, R.; Zack, D. J.: RER, an evolutionarily conserved sequence upstream of the rhodopsin gene, has enhancer activity. J. Biol. Chem. 271: 2667-2675, 1996.
[0031169]21757.Oh, K. T.; Weleber, R. G.; Lotery, A.; Oh, D. M.; Billingslea, A. M.; Stone, E. M.: Description of a new mutation in rhodopsin, pro23 to ala, and comparison with electroretinographic and clinical characteristics of the pro23-to-his mutation. Arch. Ophthal. 118: 1269-1276, 2000.
[0031170]21758.Olsson, J. E.; Gordon, J. W.; Pawlyk, B. S.; Roof, D.; Hayes, A.; Molday, R. S.; Mukai, S.; Cowley, G. S.; Berson, E. L.; Dryja, T. P.: Transgenic mice with a rhodopsin mutation (Pro23His): a mouse model of autosomal dominant retinitis pigmentosa. Neuron 9: 815-830, 1992.
[0031171]21759.Palczewski, K.; Kumasaka, T.; Hori, T.; Behnke, C. A.; Motoshima, H.; Fox, B. A.; Le Trong, I.; Teller, D. C.; Okada, T.; Stenkamp, R. E.; Yamamoto, M.; Miyano, M.: Crystal structure of rhodopsin: a G protein-coupled receptor. Science 289: 739-745, 2000.
[0031172]21760.Rao, V. R.; Cohen, G. B.; Oprian, D. D.: Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness. Nature 367: 639-642, 1994.
[0031173]21761.Robinson, P. R.; Cohen, G. B.; Zhukovsky, E. A.; Oprian, D. D. : Constitutively active mutants of rhodopsin. Neuron 9: 719-725, 1992.
[0031174]21762.Rosenfeld, P. J.; Cowley, G. S.; Hahn, L. B.; Sandberg, M. A.; Berson, E. L.; Dryja, T. P.: A null mutation within the rhodopsin gene in a family with autosomal recessive retinitis pigmentosa. (Abstract) Invest. Ophthal. Vis. Sci. 33: 1397, 1992.
[0031175]21763.Mason, I. J.; Murphy, D.; Munke, M.; Francke, U.; Elliott, R. W.; Hogan, B. L. M.: Developmental and transformation-sensitive expression of the SPARC gene on mouse chromosome 11. EMBO J. 5: 1831-1837, 1986.
[0031176]21764.Mason, I. J.; Taylor, A.; Williams, J. G.; Sage, H.; Hogan, B. L. M.: Evidence from molecular cloning that SPARC, a major product of mouse embryo parietal endoderm, is related to an endothelial cell 'culture shock' glycoprotein of Mr 43,000. EMBO J. 5: 1465-1472, 1986.
[0031177]21765.Naylor, S. L.; Helen-Davis, D.; Villarreal, X. C.; Long, G. L. : The human osteonectin gene on chromosome 5 is polymorphic. (Abstract) Cytogenet. Cell Genet. 51: 1051 only, 1989.
[0031178]21766.Schwartz, R. C.; Young, M. F.; Tsipouras, P.: Two RFLPs in the 5-prime end of the human osteonectin (ON) gene. Nucleic Acids Res. 16: 9076 only, 1988.
[0031179]21767.Stenner, D. D.; Tracy, R. P.; Riggs, B. L.; Mann, K. G.: Human platelets contain and secrete osteonectin, a major protein of mineralized bone. Proc. Nat. Acad. Sci. 83: 6892-6896, 1986.
[0031180]21768.Swaroop, A.; Francke, U.: Molecular cloning, cDNA sequence, and expression of human SPARC (osteonectin). (Abstract) Am. J. Hum. Genet. 41: A240 only, 1987.
[0031181]21769.Swaroop, A.; Hogan, B. L. M.; Francke, U.: Molecular analysis of the cDNA for human SPARC/osteonectin/BM-40: sequence, expression, and localization of the gene to chromosome 5q31-q33. Genomics 2: 37-47, 1988.
[0031182]21770.Termine, J. D.; Kleinman, H. K.; Whitson, S. W.; Conn, K. M.; McGarvey, M. L.; Martin, G. R.: Osteonectin, a bone-specific protein linking mineral to collagen. Cell 26: 99-105, 1981.
[0031183]21771.Thony, B.; Heizmann, C. W.; Mattei, M.-G.: Human GTP-cyclohydrolase I gene and sepiapterin reductase gene map to region 14q21-q22 and 2p14-p12, respectively, by in situ hybridization. Genomics 26: 168-170, 1995.
[0031184]21772.Jin, H.; Oksenberg, D.; Ashkenazi, A.; Peroutka, S. J.; Duncan, A. M. V.; Rozmahel, R.; Yang, Y.; Mengod, G.; Palacios, J. M.; O'Dowd, B. F.: Characterization of the human 5-hydroxytryptamine(1B) receptor. J. Biol. Chem. 267: 5735-5738, 1992.
[0031185]21773.Levy, F. O.; Gudermann, T.; Birnbaumer, M.; Kaumann, A. J.; Birnbaumer, L.: Molecular cloning of a human gene (S31) encoding a novel serotonin receptor mediating inhibition of adenylyl cyclase. FEBS Lett. 296: 201-206, 1992.
[0031186]21774.Levy, F. O.; Holtgreve-Grez, H.; Tasken, K.; Solberg, R.; Ried, T.; Gudermann, T.: Assignment of the gene encoding the 5-HT-1E serotonin receptor (S31) (locus HTR1E) to human chromosome 6q14-q15. Genomics 22: 637-640, 1994.
[0031187]21775.McAllister, G.; Charlesworth, A.; Snodin, C.; Beer, M. S.; Noble, A. J.; Middlemiss, D. N.; Iversen, L. L.; Whiting, P.: Molecular cloning of a serotonin receptor from human brain (5HT1E): a fifth 5HT1-like subtype. Proc. Nat. Acad. Sci. 89: 5517-5521, 1992.
[0031188]21776.Weinshank, R. L.; Zgombick, J. M.; Macchi, M. J.; Branchek, T. A.; Hartig, P. R.: Human serotonin 1D receptor is encoded by a subfamily of two distinct genes: 5-HT(1D-alpha) and 5-HT(1D-beta). Proc. Nat. Acad. Sci. 89: 3630-3634, 1992.
[0031189]21777.Pabst, T.; Mueller, B. U.; Zhang, P.; Radomska, H. S.; Narravula, S.; Schnittger, S.; Behre, G.; Hiddemann, W.; Tenen, D. G.: Dominant-negative mutations of CEBPA, encoding CCAAT/enhancer binding protein-alpha (C/EBP-alpha), in acute myeloid leukemia. Nature Genet. 27: 263-270, 2001.
[0031190]21778.Chen, Z.-Y.; Battinelli, E. M.; Fielder, A.; Bundey, S.; Sims, K.; Breakefield, X. O.; Craig, I. W.: A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy. Nature Genet. 5: 180-183, 1993.
[0031191]21779.Dudgeon, J.: Familial exudative vitreo-retinopathy. Trans. Ophthal. Soc. U.K. 99: 45-49, 1979.
[0031192]21780.Matsuda, I.; Arashima, S.; Nambu, H.; Takekoshi, Y.; Anakura, M.: Hyperammonemia due to a mutant enzyme of ornithine transcarbamylase. Pediatrics 48: 595-600, 1971.
[0031193]21781.Yang-Feng, T. L.; DeGennaro, L. J.; Francke, U.: Genes for synapsin I, a neuronal phosphoprotein, map to conserved regions of human and murine X chromosomes. Proc. Nat. Acad. Sci. 83: 8679-8683, 1986.
[0031194]21782.Matsuda, I.; Nagata, N.; Matsuura, T.; Oyanagi, K.; Tada, K.; Narisawa, K.; Kitagawa, T.; Sakiyama, T.; Yamashita, F.; Yoshino, M.: Retrospective survey of urea cycle disorders: Part 1. Clinical and laboratory observations of thirty-two Japanese male patients with ornithine transcarbamylase deficiency. Am. J. Med. Genet. 38: 85-89, 1991.
[0031195]21783.Mavinakere, M.; Morizono, H.; Shi, D.; Allewell, N. M.; Tuchman, M.: The clinically variable R40H mutant ornithine carbamoyltransferase shows cytosolic degradation of the precursor protein in CHO cells. J. Inherit. Metab. Dis. 24: 614-622, 2001.
[0031196]21784.Michels, V. V.; Potts, E.; Walser, M.; Beaudet, A. L.: Ornithine transcarbamylase deficiency: long-term survival. Clin. Genet. 22: 211-214, 1982.
[0031197]21785.Matsuda, I.; Matsuura, T.; Nishiyori, A.; Komaki, S.; Hoshide, R.; Matsumoto, T.; Funakoshi, M.; Kiwaki, K.; Endo, F.; Hata, A.; Shimadzu, M.; Yoshino, M.: Phenotypic variability in male patients carrying the mutant ornithine transcarbamylase (OTC) allele, arg40his, ranging from a child with an unfavourable prognosis to an asymptomatic older adult. J. Med. Genet. 33: 645-648, 1996.
[0031198]21786.Morsy, M. A.; Zhao, J. Z.; Ngo, T. T.; Warman, A. W.; O'Brien, W. E.; Graham, F. L.; Caskey, C. T.: Patient selection may affect gene therapy success: dominant negative effects observed for ornithine transcarbamylase in mouse and human hepatocytes. J. Clin. Invest. 97: 826-832, 1996.
[0031199]21787.Nagata, N.; Matsuda, I.; Oyanagi, K.: Estimated frequency of urea cycle enzymopathies in Japan. (Letter) Am. J. Med. Genet. 39: 228-229, 1991.
[0031200]21788.Nussbaum, R. L.; Boggs, B. A.; Beaudet, A. L.; Doyle, S.; Potter, J. L.; O'Brien, W. E.: New mutation and prenatal diagnosis in ornithine transcarbamylase deficiency. Am. J. Hum. Genet. 38: 149-158, 1986.
[0031201]21789.Ohtake, A.; Takayanagi, M.; Yamamoto, S.; Kakinuma, H.; Nakajima, H.; Tatibana, M.; Mori, M.: Molecular basis of ornithine transcarbamylase deficiency in spf and spf-ash mutant mice. J. Inherit. Metab. Dis. 9: 289-291, 1986.
[0031202]21790.Oizumi, J.; Ng, W. G.; Koch, R.; Shaw, K. N. F.; Sweetman, L.; Velazquez, A.; Donnell, G. N.: Partial ornithine transcarbamylase deficiency associated with recurrent hyperammonemia, lethargy and depressed sensorium. Clin. Genet. 25: 538-542, 1984.
[0031203]21791.Old, J. M.; Briand, P. L.; Purvis-Smith, S.; Howard, N. J.; Wilcken, B.; Hammond, J.; Pearson, P.; Cathelineau, L.; Williamson, R.; Davies, K. E.: Prenatal exclusion of ornithine transcarbamylase deficiency by direct gene analysis. Lancet I: 73-75, 1985.
[0031204]21792.Oppliger Leibundgut, E.; Liechti-Gallati, S.; Colombo, J.-P.; Wermuth, B.: Ornithine transcarbamylase deficiency: ten new mutations and high proportion of de novo mutations in heterozygous females. Hum. Mutat. 9: 409-411, 1997.
[0031205]21793.Oppliger Leibundgut, E.; Liechti-Gallati, S.; Colombo, J. P.; Wermuth, B.: Ornithine transcarbamylase deficiency: new sites with increased probability of mutation. Hum. Genet. 95: 191-196, 1995.
[0031206]21794.Oppliger Leibundgut, E.; Wermuth, B.; Colombo, J.-P.; Liechti-Gallati, S.: Ornithine transcarbamylase deficiency: characterization of gene mutations and polymorphisms. Hum. Mutat. 8: 333-339, 1996.
[0031207]21795.Pelet, A.; Rotig, A.; Bonaiti-Pellie, C.; Rabier, D.; Cormier, V.; Toumas, E.; Hentzen, D.; Saudubray, J.-M.; Munnich, A.: Carrier detection in a partially dominant X-linked disease: ornithine transcarbamylase deficiency. Hum. Genet. 84: 167-171, 1990.
[0031208]21796.Pembrey, M. E.; Old, J. M.; Leonard, J. V.; Rodeck, C. H.; Warren, R.; Davies, K. E.: Prenatal diagnosis of ornithine carbamoyl transferase deficiency using a gene specific probe. J. Med. Genet. 22: 462-465, 1985.
[0031209]21797.Ploechl, E.; Ploechl, W.; Stoeckler-Ipsiroglu, S.; Pokorny, H.; Wermuth, B.: Late-onset ornithine transcarbamylase deficiency in two families with different mutations in the same codon. Clin. Genet. 59: 111-114, 2001.
[0031210]21798.Qureshi, I. A.; Letarte, J.; Ouellet, R.: Ornithine transcarbamylase deficiency in mutant mice. I. Studies on the characterization of enzyme defect and suitability as animal model of human disease. Pediat. Res. 13: 807-811, 1979.
[0031211]21799.Ricciuti, F. C.; Gelehrter, T. D.; Rosenberg, L. E.: X-chromosome inactivation in human liver: confirmation of X-linkage of ornithine transcarbamylase. Am. J. Hum. Genet. 28: 332-338, 1976.
[0031212]21800.Rodeck, C. H.; Patrick, A. D.; Pembrey, M. E.; Tzannatos, C.; Whitfield, A. E.: Fetal liver biopsy for prenatal diagnosis of ornithine carbamyl transferase deficiency. Lancet II: 297-300, 1982.
[0031213]21801.Rosenberg, L. E.; Kalousek, F.; Orsulak, M. D.: Biogenesis of ornithine transcarbamylase in spf(ash) mutant mice: two cytoplasmic precursors, one mitochondrial enzyme. Science 222: 426-428, 1983.
[0031214]21802.Rowe, P. C.; Newman, S. L.; Brusilow, S. W.: Natural history of symptomatic partial ornithine transcarbamylase deficiency. New Eng. J. Med. 314: 541-547, 1986.
[0031215]21803.Rozen, R.; Fox, J.; Fenton, W. A.; Horwich, A. L.; Rosenberg, L. E.: Gene deletion and restriction fragment length polymorphisms at the human ornithine transcarbamylase locus. Nature 313: 815-817, 1985.
[0031216]21804.Russell, A.; Levin, B.; Oberholzer, V. G.; Sinclair, L.: Hyperammonaemia. A new instance of an inborn enzymatic defect of the biosynthesis of urea. Lancet II: 699-700, 1962.
[0031217]21805.Schwartz, M.; Christensen, E.; Christensen, N. C.; Skovby, F.; Davies, K. E.; Old, J. M.: Detection and exclusion of carriers of ornithine transcarbamylase deficiency by RFLP analysis. Clin. Genet. 29: 449-452, 1986.
[0031218]21806.Scott, C. R.; Chiang-Teng, C.; Goodman, S. I.; Greensher, A.; Mace, J. W.: X-linked transmission of ornithine-transcarbamylase deficiency. (Letter) Lancet II: 1148, 1972.
[0031219]21807.Shapiro, J. M.; Schaffner, F.; Tallan, H. H.; Gaull, G. E.: Mitochondrial abnormalities of liver in primary ornithine transcarbamylase deficiency. Pediat. Res. 14: 735-759, 1980.
[0031220]21808.Sinke, R. J.; de Leeuw, B.; Janssen, H. A. P.; Olde Weghuis, D.; Suijkerbuijk, R. F.; Meloni, A. M.; Gilgenkrantz, S.; Berger, W.; Ropers, H. H.; Sandberg, A. A.; Geurts van Kessel, A.: Localization of X chromosome short arm markers relative to synovial sarcoma- and renal adenocarcinoma-associated translocation breakpoints. Hum. Genet. 92: 305-308, 1993.
[0031221]21809.Brennan, T. J.; Seeley, W. W.; Kilgard, M.; Schreiner, C. E.; Tecott, L. H.: Soundinduced seizures in serotonin 5-HT-2C receptor mutant mice. Nature Genet. 16: 387-390, 1997.
[0031222]21810.Gurevich, I.; Tamir, H.; Arango, V.; Dwork, A. J.; Mann, J. J.; Schmauss, C.: Altered editing of serotonin 2C receptor pre-mRNA in the prefrontal cortex of depressed suicide victims. Neuron 34: 349-356, 2002.
[0031223]21811.Hall, C. S.: Genetic differences in fatal audiogenic seizures: between two inbred strains of house mice. J. Hered. 38: 3-6, 1947.
[0031224]21812.Lappalainen, J.; Zhang, L.; Dean, M.; Oz, M.; Ozaki, N.; Yu, D.; Virkkunen, M.; Weight, F.; Linnoila, M.; Goldman, D.: Identification, expression, and pharmacology of a cys(23)-ser(23) substitution in the human 5-HT(2C) receptor gene (HTR2C). Genomics 27: 274-279, 1995.
[0031225]21813.Milatovich, A.; Hsieh, C.-L.; Bonaminio, G.; Tecott, L.; Julius, D.; Francke, U.: Serotonin receptor 1c gene assigned to X chromosome in human (band q24) and mouse (bands D-F4). Hum. Molec. Genet. 1: 681-684, 1992.
[0031226]21814.Tecott, L. H.; Sun, L. M.; Akana, S. F.; Strack, A. M.; Lowenstein, D. H.; Dallman, M. F.; Julius, D.: Eating disorder and epilepsy in mice lacking 5-HT2C serotonin receptors. Nature 374: 542-546, 1995.
[0031227]21815.Blaschke, R. J.; Monaghan, A. P.; Schiller, S.; Schechinger, B.; Rao, E.; Padilla-Nash, H.; Ried, T.; Rappold, G. A.: SHOT, a SHOX-related homeobox gene, is implicated in craniofacial, brain, heart, and limb development. Proc. Nat. Acad. Sci. 95: 2406-2411, 1998.
[0031228]21816.Castillo, S.; Youlton, R.; Be, C.: Dyschondrosteosis is controlled by X and Y linked loci. (Abstract) Cytogenet. Cell Genet. 40: 601-602, 1985.
[0031229]21817.Clement-Jones, M.; Schiller, S.; Rao, E.; Blaschke, R. J.; Zuniga, A.; Zeller, R.; Robson, S. C.; Binder, G.; Glass, I.; Strachan, T.; Lindsay, S.; Rappold, G. A.: The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome. Hum. Molec. Genet. 9: 695-702, 2000.
[0031230]21818.Ellison, J. W.; Wardak, Z.; Webster, M.; Chiong, W.: PHOG, a candidate gene for involvement in the short stature of Turner syndrome. (Abstract) Am. J. Hum. Genet. 59 (suppl.): A32, 1996.
[0031231]21819.Ellison, J. W.; Wardak, Z.; Young, M. F.; Robey, P. G.; Webster, M.; Chiong, W.: PHOG, a candidate gene for involvement in the short stature of Turner syndrome. Hum. Molec. Genet. 6: 1341-1347, 1997.
[0031232]21820.Guichet, A.; Briault, S.; Le Merrer, M.; Moraine, C.: Are t(X;Y) (p22;q11) translocations in females frequently associated with Madelung deformity? Clin. Dysmorphl. 6: 341-345, 1997.
[0031233]21821.Henke, A.; Wapenaar, M.; van Ommen, G.-J.; Maraschio, P.; Camerino, G.; Rappold, G.: Deletions within the pseudoautosomal region help map three new markers and indicate a possible role of this region in linear growth. Am. J. Hum. Genet. 49: 811-819, 1991.
[0031234]21822.Affara, N. A.; Chalmers, I. J.; Ferguson-Smith, M. A.: Analysis of the SRY gene in 22 sex-reversed XY females identifies four new point mutations in the conserved DNA binding domain. Hum. Molec. Genet. 2: 785-789, 1993.
[0031235]21823.Behlke, M. A.; Bogan, J. S.; Beer-Romero, P.; Page, D. C.: Evidence that the SRY protein is encoded by a single exon on the human Y chromosome. Genomics 17: 736-739, 1993.
[0031236]21824.Berkovitz, G. D.; Fechner, P. Y.; Zacur, H. W.; Rock, J. A.; Snyder, H. M., III; Migeon, C. J.; Perlman, E. J.: Clinical and pathologic spectrum of 46,XY gonadal dysgenesis: its relevance to the understanding of sex differentiation. Medicine 70: 375-383, 1991.
[0031237]21825.Bowles, J.; Cooper, L.; Berkman, J.; Koopman, P.: Sry requires a CAG repeat domain for male sex determination in Mus musculus. Nature Genet. 22: 405-408, 1999.
[0031238]21826.Braun, A.; Kammerer, S.; Cleve, H.; Lohrs, U.; Schwarz, H.-P.; Kuhnle, U.: True hermaphroditism in a 46,XY individual, caused by a postzygotic somatic point mutation in the male gonadal sex-determining locus (SRY): molecular genetics and histological findings in a sporadic case. Am. J. Hum. Genet. 52: 578-585, 1993.
[0031239]21827.Brown, S.; Yu, C. C.; Lanzano, P.; Heller, D.; Thomas, L.; Warburton, D.; Kitajewski, J.; Stadtmauer, L.: A de novo mutation (gln2stop) at the 5-prime end of the SRY gene leads to sex reversal with partial ovarian function. (Letter) Am. J. Hum. Genet. 62: 189-192, 1998.
[0031240]21828.Canto, P.; de la Chesnaye, E.; Lopez, M.; Cervantes, A.; Chavez, B.; Vilchis, F.; Reyes, E.; Ulloa-Aguirre, A.; Kofman-Alfaro, S.; Mendez, J. P.: A mutation in the 5-prime non-high mobility group box region of the SRY gene in patients with Turner syndrome and Y mosaicism. J. Clin. Endocr. Metab. 85: 1908-1911, 2000.
[0031241]21829.Cherfas, J.: Sex and the single gene. Science 252: 782, 1991.
[0031242]21830.Clepet, C.; Schafer, A. J.; Sinclair, A. H.; Palmer, M. S.; Lovell-Badge, R.; Goodfellow, P. N.: The human SRY transcript. Hum. Molec. Genet. 2: 2007-2012, 1993.
[0031243]21831.Davis, R. M.: Localisation of male determining factors in man: a thorough review of structural anomalies of the Y chromosome. J. Med. Genet. 18: 161-195, 1981.
[0031244]21832.Dork, T.; Stuhrmann, M.; Miller, K.; Schmidtke, J.: Independent observation of SRY mutation I90M in a patient with complete gonadal dysgenesis. (Letter) Hum. Mutat. 11: 90-91, 1998.
[0031245]21833.Eicher, E. M.; Washburn, L. L.: Genetic control of primary sex determination in mice. Annu. Rev. Genet. 20: 327-360, 1986.
[0031246]21834.Foster, J. W.; Brennan, F. E.; Hampikian, G. K.; Goodfellow, P. N.; Sinclair, A. H.; Lovell-Badge, R.; Selwood, L.; Renfree, M. B.; Cooper, D. W.; Graves, J. A. M.: Evolution of sex determination and the Y chromosome: SRY-related sequences in marsupials. Nature 359: 531-533, 1992.
[0031247]21835.Fuqua, J. S.; McLaughlin, J.; Perlman, E. J.; Berkowitz, G. D. : Analysis of the SRY gene in gonadal tissue of subjects with 46,XY gonadal dysgenesis (Letter) J. Clin. Endocr. Metab. 82: 701-702, 1997.
[0031248]21836.Domenice, S.; Nishi, M. Y.; Billerbeck, A. E. C.; Latronico, A. C.; Medeiros, M. A.; Russell, A. J.; Vass, K.; Carvalho, F. M.; Frade, E. M. C.; Arnhold, I. J. P.; Mendonca, B. B.: A novel missense mutation (S18N) in the 5-prime non-HMG box region of the SRY gene in a patient with partial gonadal dysgenesis and his normal male relatives. Hum. Genet. 102: 213-215, 1998.
[0031249]21837.Giese, K.; Pagel, J.; Grosschedl, R.: Distinct DNA-binding properties of the high mobility group domain of murine and human SRY sex-determining factors. Proc. Nat. Acad. Sci. 91: 3368-3372, 1994.
[0031250]21838.Goodfellow, P. N.; Lovell-Badge, R.: SRY and sex determination in mammals. Annu. Rev. Genet. 27: 71-92, 1993.
[0031251]21839.Gubbay, J.; Collignon, J.; Koopman, P.; Capel, B.; Economou, A.; Munsterberg, A.; Vivian, N.; Goodfellow, P. N.; Lovell-Badge, R.: A gene mapping to the sex-determining region of the mouse Y chromosome is a member of a novel family of embryonically expressed genes. Nature 346: 245-250, 1990.
[0031252]21840.Haqq, C. M.; King, C.-Y.; Ukiyama, E.; Falsafi, S.; Haqq, T. N.; Donahoe, P. K.; Weiss, M. A.: Molecular basis of mammalian sexual determination: activation of Mullerian inhibiting substance gene expression by SRY. Science 266: 1494-1500, 1994.
[0031253]21841.Ramulu, P.; Kennedy, M.; Xiong, W.-H.; Williams, J.; Cowan, M.; Blesh, D.; Yau, K.-W.; Hurley, J. B.; Nathans, J.: Normal light response, photoreceptor integrity, and rhodopsin dephosphorylation in mice lacking both protein phosphatases with EF hands (PPEF-1 and PPEF-2). Molec. Cell. Biol. 21: 8605-8614, 2001.
[0031254]21842.van de Vosse, E.; Franco, B.; van der Bent, P.; Montini, E.; Orth, U.; Hanauer, A.; Tijmes, N.; van Ommen, G.-J. B.; Ballabio, A.; den Dunnen, J. T.; Bergen, A. A. B.: Exclusion of PPEF as the gene causing X-linked juvenile retinoschisis. Hum. Genet. 101: 235-237, 1997.
[0031255]21843.Spranger, S.; Schiller, S.; Jauch, A.; Wolff, K.; Rauterberg-Ruland, I.; Hager, D.; Tariverdian, G.; Troger, J.; Rappold, G.: Leri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3. Am. J. Med. Genet. 83: 367-371, 1999.
[0031256]21844.Stern, M.-H.; Soulier, J.; Rosenzwajg, M.; Nakahara, K.; Canki-Klain, N.; Aurias, A.; Sigaux, F.; Kirsch, I. R.: MTCP-1: a novel gene on the human chromosome Xq28 translocated to the T cell receptor alpha/delta locus in mature T cell proliferations. Oncogene 8: 2475-2483, 1993.
[0031257]21845.Watanabe, T. K.; Fujiwara, T.; Nakamura, Y.; Hirai, Y.; Maekawa, H.; Takahashi, E.: Cloning, expression pattern and mapping to Xq of NAP1L3, a gene encoding a peptide homologous to human and yeast nucleosome assembly proteins. Cytogenet. Cell Genet. 74: 281-285, 1996.
[0031258]21846.Prakash, S. K.; Paylor, R.; Jenna, S.; Lamarche-Vane, N.; Armstrong, D. L.; Xu, B.; Mancini, M. A.; Zoghbi, H. Y.: Functional analysis of ARHGAP6, a novel GTPase-activating protein for RhoA. Hum. Molec. Genet. 9: 477-488, 2000.
[0031259]21847.Schaefer, L.; Prakash, S.; Zoghbi, H. Y.: Cloning and characterization of a novel rhotype GTPase-activating protein gene (ARHGAP6) from the critical region for microphthalmia with linear skin defects. Genomics 46: 268-277, 1997.
[0031260]21848.Aman, M. J.; Tayebi, N.; Obiri, N. I.; Puri, R. K.; Modi, W. S.; Leonard, W. J.: cDNA cloning and characterization of the human interleukin 13 receptor alpha chain. J. Biol. Chem. 271: 29265-29270, 1996.
[0031261]21849.Guo, J.; Apiou , F.; Mellerin, M.-P.; Lebeau, B.; Jacques, Y.; Minvielle, S.: Chromosome mapping and expression of the human interleukin-13 receptor. Genomics 42: 141-5, 1997.
[0031262]21850.Hilton, D. J.; Zhang, J.-G.; Metcalf, D.; Alexander, W. S.; Nicola, N. A.; Willson, T. A.: Cloning and characterization of a binding subunit of the interleukin 13 receptor that is also a component of the interleukin 4 receptor. Proc. Nat. Acad. Sci. 93: 497-501, 1996.
[0031263]21851.Riggs, J. E.; Schochet, S. S., Jr.; Gutmann, L.; Shanske, S.; Neal, W. A.; DiMauro, S.: Lysosomal glycogen storage disease without acid maltase deficiency. Neurology 33: 873-877, 1983.
[0031264]21852.Verloes, A.; Massin, M.; Lombet, J.; Grattagliano, B.; Soyeur, D.; Rigo, J.; Koulischer, L.; Van Hoof, F.: Nosology of lysosomal glycogen storage diseases without in vitro acid maltase deficiency: delineation of a neonatal form. Am. J. Med. Genet. 72: 135-142, 1997.
[0031265]21853.Kaye, F. J.; Modi, S.; Ivanovska, I.; Koonin, E. V.; Thress, K.; Kubo, A.; Kornbluth, S.; Rose, M. D.: A family of ubiquitin-like proteins binds the ATPase domain of Hsp70-like Stch. FEBS Lett. 467: 348-352, 2000.
[0031266]21854.Kaye, F. J.; Shows, T. B.: Assignment of ubiquilin 2 (UBQLN2) to human chromosome xp11.23-p11.1 by GeneBridge radiation hybrids. Cytogenet. Cell Genet. 89: 116-117, 2000.
[0031267]21855.Kleijnen, M. F.; Shih, A. H.; Zhou, P.; Kumar, S.; Soccio, R. E.; Kedersha, N. L.; Gill, G.; Howley, P. M.: The hPLIC proteins may provide a link between the ubiquitination machinery and the proteasome. Molec. Cell 6: 409-419, 2000.
[0031268]21856.Lee, D. K.; Nguyen, T.; Lynch, K. R.; Cheng, R.; Vanti, W. B.; Arkhitko, O.; Lewis, T.; Evans, J. F.; George, S. R.; O'Dowd, B. F. : Discovery and mapping of ten novel G protein-coupled receptor genes. Gene 275: 83-91, 2001.
[0031269]21857.Ades, L. C.; Gedeon, A. K.; Wilson, M. J.; Latham, M.; Partington, M. W.; Mulley, J. C.; Nelson, J.; Lui, K.; Sillence, D. O.: Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28. Am. J. Med. Genet. 45: 327-334, 1993.
[0031270]21858.Barth, P. G.; Scholte, J. A.; Berden, J. A.; Van der Klei-Van Moorsel, J. M.; Luyt-Houwen, I. E. M.; Van't Veer-Korthof, E. T.; Van der Harten, J. J.; Sobotka-Plojhar, M. A.: An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes. J. Neurol. Sci. 62: 327-355, 1983.
[0031271]21859.Barth, P. G.; Van't Veer-Korthof, E. T.; Van Delden, L.; Van Dam, K.; Van der Harten, J. J.; Kuipers, J. R. G.: An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leukocytes.In: Busch, H. F. M.; Jennekens, F. G. I.; Schotte, H. R.: Mitochondria and Muscular Diseases. Beetsterzwaag, The Netherlands: Mefar (pub.) 1981. Pp. 161-164.
[0031272]21860.Bione, S.; D'Adamo, P.; Maestrini, E.; Gedeon, A. K.; Bolhuis, P. A.; Toniolo, D.: A novel X-linked gene, G4.5.(sic) is responsible for Barth syndrome. Nature Genet. 12: 385-389, 1996.
[0031273]21861.Bolhuis, P. A.; Hensels, G. W.; Hulsebos, T. J. M.; Baas, F.; Barth, P. G.: Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28. Am. J. Hum. Genet. 48: 481-485, 1991.
[0031274]21862.Chen, Y.-T.; Rettig, W. J.; Yenamandra, A. K.; Kozak, C. A.; Chaganti, R. S. K.; Posner, J. B.; Old, L. J.: Cerebellar degeneration-related antigen: a highly conserved neuroectodermal marker mapped to chromosomes X in human and mouse. Proc. Nat. Acad. Sci. 87: 3077-3081, 1990.
[0031275]21863.Dropcho, E. J.; Chen, Y. T.; Posner, J. B.; Old, L. J.: Cloning of a brain protein identified by autoantibodies from a patient with paraneoplastic cerebellar degeneration. Proc. Nat. Acad. Sci. 84: 4552-4556, 1987.
[0031276]21864.Furneaux, H. M.; Rosenblum, M. K.; Dalmau, J.; Wong, E.; Woodruff, P.; Graus, F.; Posner, J. B.: Selective expression of Purkinje-cell antigens in tumor tissue from patients with paraneoplastic cerebellar degeneration. New Eng. J. Med. 322: 1844-1851, 1990.
[0031277]21865.Furneaux, H. M.; Wong, E.; Posner, J. B.: Isolation of cDNA clones encoding the major Yo paraneoplastic antigen. (Abstract) Neurology 40 (suppl. 1): 166 only, 1990.
[0031278]21866.Hirst, M. C.; Bell, M. V.; MacKinnon, R. N.; Watson, J. E. V.; Callen, D.; Sutherland, G.; Dahl, N.; Patterson, M. N.; Schwartz, C.; Ledbetter, D.; Ledbetter, S.; Davies, K. E.: Mapping of a cerebellar degeneration related protein and DXS304 around the fragile site. Am. J. Med. Genet. 38: 354-356, 1991.
[0031279]21867.Rettig, W. J.; Chen, Y. T.; Yenamandra, A. K.; Chaganti, R. S. K.; Dropcho, E. J.; Posner, J. B.; Old, L. J.: Assignment of the cerebellar degeneration-related autoantigen CDR to human chromosome X. (Abstract) Cytogenet. Cell Genet. 46: 681 only, 1987.
[0031280]21868.Siniscalco, M.; Oberle, I.; Melis, P.; Alhadeff, B.; Murray, J.; Filippi, G.; Mattioni, T.; Chen, Y.-T.; Furneaux, H.; Old, L. J.; Posner, J. B.: Physical and genetic mapping of the CDR gene with particular reference to its position with respect to the FRAXA site. Am. J. Med. Genet. 38: 357-362, 1991.
[0031281]21869.Siniscalco, M.; Alhadeff, B.; Kekish, O.; Melis, P.; Maltioni, T.; Filippi, G.; Murray, J. C.; Oberle, I.; Chen, Y. T.; Old, L. J.; Posner, J. B.: The CDR gene, located at the upper boundary of the FRAXA, is tightly linked to DXS98 and DXS105 RFLPs, moderately to the FRA(X)-syndrome and loosely to the cluster of DXS15-DXS52 RFLPs. (Abstract) Cytogenet. Cell Genet. 51: 1081 only, 1989.
[0031282]21870.Knight, J. C.; Renwick, P. J.; Downing, J. R.; Okuda, T.: Physical linkage of the cdc2-related gene (PCTK1) and the ubiquitin-activating enzyme E1 gene (UBE1) on human Xp11.3. Cytogenet. Cell Genet. 71: 155-157, 1995.
[0031283]21871.Aarskog, D.: A familial syndrome of short stature associated with facial dysplasia and genital anomalies. J. Pediat. 77: 856-861, 1970.
[0031284]21872.Baldellou, A.; Galve, L.; Bassecourt, M.: Risk of medullary damage in Aarskog-Scott syndrome. (Abstract) Clin. Genet. 23: 225 only, 1983.
[0031285]21873.Bawle, E.; Tyrkus, M.; Lipman, S.; Bozimowski, D.: Aarskog syndrome: full male and female expression associated with an X-autosome translocation. Am. J. Med. Genet. 17: 595-602, 1984.
[0031286]21874.Berman, P. A.; Desjardins, C.; Fraser, F. C.: Inheritance of the Aarskog syndrome. Birth Defects Orig. Art. Ser. X(7): 151-159, 1974.
[0031287]21875.Buechner, M.; Hall, D. H.; Bhatt, H.; Hedgecock, E. M.: Cystic canal mutants in Caenorhabditis elegans are defective in the apical membrane domain of the renal (excretory) cell. Dev. Biol. 214: 227-241, 1999.
[0031288]21876.Casteels, M.; Samain, H.; Penninckx, F.; Coremans, G.; Beirinckx, J.; Fryns, J. P.: Megadolichosigmoid in a young male with Aarskog syndrome. Genet. Counsel. 5: 81-83, 1994.
[0031289]21877.Estrada, L.; Caron, E.; Gorski, J. L.: Fgd1, the Cdc42 guanine nucleotide exchange factor responsible for faciogenital dysplasia, is localized to the subcortical actin cytoskeleton and Golgi membrane. Hum. Molec. Genet. 10: 485-495, 2001.
[0031290]21878.Fernandez, I.; Tsukahara, M.; Mito, H.; Yoshii, H.; Uchida, M.; Matsuo, K.; Kajii, T.: Congenital heart defects in Aarskog syndrome. Am. J. Med. Genet. 50: 318-322, 1994.
[0031291]21879.Fryns, J.-P.: Dolichomegasigmoid in Aarskog syndrome. (Letter) Am. J. Med. Genet. 45: 122 only, 1993.
[0031292]21880.Fryns, J. P.: Aarskog syndrome: the changing phenotype with age. Am. J. Med. Genet. 43: 420-427, 1992.
[0031293]21881.Fryns, J. P.; Macken, J.; Vinken, L.; Igodt-Ameye, L.; van den Berghe, H.: The Aarskog syndrome. Hum. Genet. 42: 129-135, 1978.
[0031294]21882.Funderburk, S. J.; Crandall, B. F.: The Aarskog syndrome in three brothers. Clin. Genet. 6: 119-124, 1974.
[0031295]21883.Furukawa, C. T.; Hall, B. D.; Smith, D. W.: The Aarskog syndrome. J. Pediat. 81: 1117-1122, 1972.
[0031296]21884.Gao, J.; Estrada, L.; Cho, S.; Ellis, R. E.; Gorski, J. L.: The Caenorhabditis elegans homolog of FGD1, the human Cdc42 GEF gene responsible for faciogenital dysplasia, is critical for excretory cell morphogenesis. Hum. Molec. Genet. 10: 3049-3062, 2001.
[0031297]21885.Glover, T. W.; Verga, V.; Rafael, J.; Barcroft, C.; Gorski, J. L.; Bawle, E. V.; Higgins, J. V.: Translocation breakpoint in Aarskog syndrome maps to Xp11.21 between ALAS2 and DXS323. Hum. Molec. Genet. 2: 1717-1718, 1993.
[0031298]21886.Grier, R. E.; Farrington, F. H.; Kendig, R.; Mamunes, P.: Autosomal dominant inheritance of the Aarskog phenotype. (Abstract) Am. J. Hum. Genet. 33: 64A only, 1981.
[0031299]21887.Hoo, J. J.: The Aarskog (facio-digito-genital) syndrome. Clin. Genet. 16: 269-276, 1979.
[0031300]21888.Kodama, M.; Fujimoto, S.; Namikawa, T.; Matsuda, I.: Aarskog syndrome with isolated growth hormone deficiency. Europ. J. Pediat. 135: 273-276, 1981.
[0031301]21889.Lebel, R. R.; May, M.; Pouls, S.; Lubs, H. A.; Stevenson, R. E.; Schwartz, C. E.: Nonsyndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene. Clin. Genet. 61: 139-145, 2002.
[0031302]21890.Logie, L. J.; Porteous, M. E. M.: Intelligence and development in Aarskog syndrome. Arch. Dis. Child. 79: 359-360, 1998.
[0031303]21891.Mikelsaar, R. V.-A.; Lurie, I. W.: Atypical case of Aarskog syndrome. J. Med. Genet. 29: 349-350, 1992.
[0031304]21892.Nielsen, K. B.: Aarskog syndrome in a Danish family: an illustration of the need for dysmorphology in paediatrics. Clin. Genet. 33: 315-317, 1988.
[0031305]21893.Oberiter, V.; Lovrencic, M. K.; Schmutzer, L.; Kraus, O.: The Aarskog syndrome. Acta Paediat. Scand. 69: 567-570, 1980.
[0031306]21894.Orrico, A.; Galli, L.; Falciani, M.; Bracci, M.; Cavaliere, M. L.; Rinaldi, M. M.; Musacchio, A.; Sorrentino, V.: A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome). FEBS Lett. 478: 216-220, 2000.
[0031307]21895.Pasteris, N. G.; Cadle, A.; Logie, L. J.; Porteous, M. E. M.; Schwartz, C. E.; Stevenson, R. E.; Glover, T. W.; Wilroy, R. S.; Gorski, J. L.: Isolation and analysis of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative, rho/rac guanine nucleotide exchange factor. Cell 79: 669-678, 1994.
[0031308]21896.Pasteris, N. G.; de Gouyon, B.; Cadle A. B.; Campbell, K.; Herman, G. E.; Gorski, J. L.: Cloning and regional localization of the mouse faciogenital dysplasia (Fgd1) gene. Mammalian Genome 6: 658-661, 1995.
[0031309]21897.Pedersen, J. C.; Fryns, J. P.; Bracke, P.; Geeraert, M.; Van Den Berghe, H.: The Aarskog syndrome. Ann. Genet. 23: 108-110, 1980.
[0031310]21898.Porteous, M. E. M.; Goudie, D. R.: Aarskog syndrome. J. Med. Genet. 28: 44-47, 1991.
[0031311]21899.Rafael, J.; Verga, V.; Hall, B.; Burright, E.; Gorski, J.; Bawle, J.; Higgins, J. V.; Glover, T. W.: Assignment of the translocation breakpoint in a patient with Aarskog syndrome to Xp11.21. (Abstract) Am. J. Hum. Genet. 51 (suppl.): A116 only, 1992.
[0031312]21900.Schwartz, C. E.; Gillessen-Kaesbach, G.; May, M.; Cappa, M.; Gorski, J.; Steindl, K.; Neri, G.: Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome. Europ. J. Hum. Genet. 8: 869-874, 2000.
[0031313]21901.Scott, C. I., Jr.: Unusual facies, joint hypermobility, genital anomaly and short stature: a new dysmorphic syndrome. Birth Defects Orig. Art. Ser. VII(6): 240-246, 1971.
[0031314]21902.Asghar, M.; Nevin, N. C.; Beattie, E. D.; McManus, D.; Roberts, G. M. A.; Phillips, J. A.: Contiguous gene deletion syndrome involving glycerol kinase and Duchenne muscular dystrophy loci. J. Inherit. Metab. Dis. 22: 933-935, 1999.
[0031315]21903.Balducci, R.; Municchi, G.; Toscano, V.; Mangiantini, A.; Sabatini, R.; Caiola, S.; Tedeschi, B.; Orlandi, L.; Boscherini, B.: Complex glycerol kinase deficiency: an unusual cause of saltwasting in males. Clin. Endocr. 42: 437-439, 1995.
[0031316]21904.Bartley, J. A.; Patil, S.; Davenport, S.; Goldstein, D.; Pickens, J.: Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion. J. Pediat. 108: 189-192, 1986.
[0031317]21905.Borresen, A.-L.; Hellerud, C.; Moller, P.; Sovik, O.; Berg, K. : Prenatal diagnosis of glycerol-kinase deficiency associated with a DNA deletion on the short arm of the X chromosome. Clin. Genet. 32: 254-259, 1987.
[0031318]21906.Darras, B. T.; Francke, U.: Myopathy in complex glycerol kinase deficiency patients is due to 3-prime deletions of the dystrophin gene. Am. J. Hum. Genet. 43: 126-130, 1988.
[0031319]21907.Davies, K. E.; Patterson, M. N.; Kenwrick, S. J.; Bell, M. V.; Sloan, H. R.; Westman, J. A.; Elsas, L. J., II; Mahan, J.: Fine mapping of glycerol kinase deficiency and congenital adrenal hypoplasia within Xp21 on the short arm of the human X chromosome. Am. J. Med. Genet. 29: 557-564, 1988.
[0031320]21908.Dipple, K. M.; Zhang, Y.-H.; Huang, B.-L.; McCabe, L. L.; Dallongeville, J.; Inokuchi, T.; Kimura, M.; Marx, H. J.; Roederer, G. O.; Shih, V.; Yamaguchi, S.; Yoshida, I.; McCabe, E. R. B.: Glycerol kinase deficiency: evidence for complexity in a single gene disorder. Hum. Genet. 109: 55-62, 2001.
[0031321]21909.Arias, J.; Alberts, A. S.; Brindle, P.; Claret, F. X.; Smeal, T.; Karin, M.; Feramisco, J.; Montminy, M.: Activation of cAMP and mitogen responsive genes relies on a common nuclear factor. Nature 370: 226-229, 1994.
[0031322]21910.Blough, R. I.; Petrij, F.; Dauwerse, J. G.; Milatovich-Cherry, A.; Weiss, L.; Saal, H. M.; Rubinstein, J. H.: Variation in microdeletions of the cyclic AMP-responsive element-binding protein gene at chromosome band 16p13.3 in the Rubinstein-Taybi syndrome. Am. J. Med. Genet. 90: 29-34, 2000.
[0031323]21911.Chen, X.-N.; Korenberg, J. R.: Localization of human CREBBP (CREB binding protein) to 16p13.3 by fluorescence in situ hybridization. Cytogenet. Cell Genet. 71: 56-57, 1995.
[0031324]21912.Chrivia, J. C.; Kwok, R. P. S.; Lamb, N.; Hagiwara, M.; Montminy, M. R.; Goodman, R. H.: Phosphorylated CREB binds specifically to the nuclear protein CBP. Nature 365: 855-859, 1993.
[0031325]21913.Borrow, J.; Stanton, V. P., Jr.; Andresen, J. M.; Becher, R.; Behm, F. G.; Chaganti, R. S. K.; Civin, C. I.; Disteche, C.; Dube, I.; Frischauf, A. M.; Horsman, D.; Mitelman, F.; Volinia, S.; Watmore, A. E.; Housman, D. E.: The translocation t(8;16)(p11;p13) of acute myeloid leukaemia fuses a putative acetyltransferase to the CREB-binding protein. Nature Genet. 14: 33-41, 1996.
[0031326]21914.Demarest, S. J.; Martinez-Yamout, M.; Chung, J.; Chen, H.; Xu, W.; Dyson, H. J.; Evans, R. M.; Wright, P. E.: Mutual synergistic folding in recruitment of CBP/p300 by p160 nuclear receptor coactivators. Nature 415: 549-553, 2002.
[0031327]21915.Eckner, R.; Ewen, M. E.; Newsome, D.; Gerdes, M.; DeCaprio, J. A.; Lawrence, J. B.; Livingston, D. M.: Molecular cloning and functional analysis of the adenovirus E1A-associated 300-kD protein (p300) reveals a protein with properties of a transcriptional adaptor. Genes Dev. 15: 869-884, 1994.
[0031328]21916.Giles, R. H.; Dauwerse, H. G.; van Ommen, G.-J. B.; Breuning, M. H.: Do human chromosomal bands 16p13 and 22q11-13 share ancestral origins? (Letter) Am. J. Hum. Genet. 63: 1240-1242, 1998.
[0031329]21917.Giles, R. H.; Petrij, F.; Dauwerse, H. G.; den Hollander, A. I.; Lushnikova, T.; van Ommen, G.-J. B.; Goodman, R. H.; Deaven, L. L.; Doggett, N. A.; Peters, D. J.; Breuning, M. H.: Construction of a 1.2-Mb contig surrounding, and molecular analysis of, the human CREB-binding protein (CBP/CREBBP) gene on chromosome 16p13.3. Genomics 42: 96-114, 1997.
[0031330]21918.Gonzalez, G. A.; Montminy, M. R.: Cyclic AMP stimulates somatostatin gene transcription by phosphorylation of CREB at serine 133. Cell 59: 675-680, 1989.
[0031331]21919.Kung, A. L.; Rebel, V. I.; Bronson, R. T.; Ch'ng, L.-E.; Sieff, C. A.; Livingston, D. M.; Yao, T.-P.: Gene dose-dependent control of hematopoiesis and hematologic tumor suppression by CBP. Genes Dev. 14: 272-277, 2000.
[0031332]21920.Kwok, R. P. S.; Lundblad, J. R.; Chrivia, J. C.; Richards, J. P.; Bachinger, H. P.; Brennan, R. G.; Roberts, S. G. E.; Green, M. R.; Goodman, R. H.: Nuclear protein CBP is a coactivator for the transcription factor CREB. Nature 370: 223-226, 1994.
[0031333]21921.Lin, C. H.; Hare, B. J.; Wagner, G.; Harrison, S. C.; Maniatis, T.; Fraenkel, E.: A small domain of CBP/p300 binds diverse proteins: solution structure and functional studies. Molec. Cell 8: 581-590, 2001.
[0031334]21922.Lundblad, J. R.; Kwok, R. P. S.; Laurance, M. E.; Harter, M. L.; Goodman, R. H.: Adenoviral E1A-associated protein p300 as a functional homologue of the transcriptional co-activator CBP. Nature 374: 85-88, 1995.
[0031335]21923.Murata, T.; Kurokawa, R.; Krones, A.; Tatsumi, K.; Ishii, M.; Taki, T.; Masuno, M.; Ohashi, H.; Yanagisawa, M.; Rosenfeld, M. G.; Glass, C. K.; Hayashi, Y.: Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi syndrome. Hum. Molec. Genet. 10: 1071-1076, 2001.
[0031336]21924.Nordheim, A.: CREB takes CBP to tango. Nature 370: 177-178, 1994.
[0031337]21925.Ohno, S.: Patterns in genome evolution. Curr. Opin. Genet. Dev. 3: 911-914, 1993.
[0031338]21926.Oike, Y.; Hata, A.; Mamiya, T.; Kaname, T.; Noda, Y.; Suzuki, M.; Yasue, H.; Nabeshima, T.; Araki, K.; Yamamura, K.: Truncated CBP protein leads to classical Rubinstein-Taybi syndrome phenotypes in mice: implications for a dominant-negative mechanism. Hum. Molec. Genet. 8: 387-396, 1999.
[0031339]21927.Kamb, A.; Shattuck-Eidens, D.; Eeles, R.; Liu, Q.; Gruis, N. A.; Ding, W.; Hussey, C.; Tran, T.; Miki, Y.; Weaver-Feldhaus, J.; McClure, M.; Aitken, J. F.; Anderson, D. E.; Bergman, W.; Frants, R.; Goldgar, D. E.; Green, A.; MacLennan, R.; Martin, N. G.; Meyer, L. J.; Youl, P.; Zone, J. J.; Skolnick, M. H.; Cannon-Albright, L. A.: Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus. Nature Genet. 8: 22-26, 1994.
[0031340]21928.Riesewijk, A. M.; Blagitko, N.; Schinzel, A. A.; Hu, L.; Schulz, U.; Hamel, B. C. J.; Ropers, H.-H.; Kalscheuer, V. M.: Evidence against a major role of PEG1/MEST Silver-Russell syndrome. Europ. J. Hum. Genet. 6: 114-120, 1998.
[0031341]21929.Riesewijk, A. M.; Hu, L.; Schulz, U.; Tariverdian, G.; Hoglund, P.; Kere, J.; Ropers, H.-H.; Kalscheuer, V. M.: Monoallelic expression of human PEG1/MEST is paralleled by parent-specific methylation in fetuses. Genomics 42: 236-244, 1997.
[0031342]21930.Sado, T.; Nakajima, N.; Tada, M.; Takagi, N.: A novel mesoderm-specific cDNA isolated from a mouse embryonal carcinoma cell line. Dev. Growth Differ. 35: 551-560, 1993.
[0031343]21931.Kamijo, T.; Zindy, F.; Roussel, M. F.; Quelle, D. E.; Downing, J. R.; Ashmun, R. A.; Grosveld, G.; Sherr, C. J.: Tumor suppression at the mouse INK4a locus mediated by the alternative reading frame product p19(ARF). Cell 91: 649-659, 1997.
[0031344]21932.Koh, J.; Enders, G. H.; Dynlacht, B. D.; Harlow, E.: Tumour-derived p16 alleles encoding proteins defective in cell-cycle inhibition. Nature 375: 506-510, 1995.
[0031345]21933.Komiya, A.; Suzuki, H.; Aida, S.; Yatani, R.; Shimazaki, J.: Mutational analysis of CDKN2 (CDK4I/MTS1) gene in tissues and cell lines of human prostate cancer. Jpn. J. Cancer Res. 86: 622-625, 1995.
[0031346]21934.Krimpenfort, P.; Quon, K. C.; Mooi, W. J.; Loonstra, A.; Berns, A.: Loss of p16(Ink4a) confers susceptibility to metastatic melanoma in mice. Nature 413: 83-85, 2001.
[0031347]21935.Labarriere, N.; Selvais, P. L.; Lemaigre, F. P.; Michel, A.; Maiter, D. M.; Rousseau, G. G.: A novel transcriptional activator originating from an upstream promoter in the human growth hormone gene. J. Biol. Chem. 270: 19205-19208, 1995.
[0031348]21936.Little, M.; Wainwright, B.: Methylation and p16: suppressing the suppressor. Nature Med. 1: 633-634, 1995.
[0031349]21937.Liu, L.; Dilworth, D.; Gao, L.; Monzon, J.; Summers, A.; Lassam, N.; Hogg, D.: Mutation of the CDKN2A 5-prime UTR creates an aberrant initiation codon and predisposes to melanoma. Nature Genet. 21: 128-132, 1999.
[0031350]21938.Liu, L.; Lassam, N. J.; Slingerland, J. M.; Bailey, D.; Cole, D.; Jenkins, R.; Hogg, D.: Germline p16(INK4A) mutation and protein dysfunction in a family with inherited melanoma. Oncogene 11: 405-412, 1995.
[0031351]21939.Lukas, J.; Parry, D.; Aagaard, L.; Mann, D. J.; Bartkova, J.; Strauss, M.; Peters, G.; Bartek, J.: Retinoblastoma-protein-dependent cell-cycle inhibition by the tumour suppressor p16. Nature 375: 503-506, 1995.
[0031352]21940.MacGeoch, C.; Bishop, J. A.; Bataille, V.; Bishop, D. T.; Frischauf, A. M.; Meloni, R.; Cuzick, J.; Pinney, E.; Spurr, N. K.: Genetic heterogeneity in familial malignant melanoma. Hum. Molec. Genet. 3: 2195-2200, 1994.
[0031353]21941.MacKie, R. M.; Andrew, N.; Lanyon, W. G.; Connor, J. M.: CDKN2A germline mutations in U.K. patients with familial melanoma and multiple primary melanomas. J. Invest. Derm. 111: 269-272, 1998.
[0031354]21942.Mantelli, M.; Barile, M.; Ciotti, P.; Ghiorzo, P.; Lantieri, F.; Pastorino, L.; Catricala, C.; Della Torre, G.; Folco, U.; Grammatico, P.; Padovani, L.; Pasini, B.; and 9 others: High prevalence of the G101W germline mutation in the CDKN2A (P16ink4a) gene in 62 Italian malignant melanoma families. Am. J. Med. Genet. 107: 214-221, 2002.
[0031355]21943.Merlo, A.; Herman, J. G.; Mao, L.; Lee, D. J.; Gabrielson, E.; Burger, P. C.; Baylin, S. B.; Sidransky, D.: 5-prime CpG island methylation is associated with transcriptional silencing of the tumour suppressor p16/CDKN2/MTS1 in human cancers. Nature Med. 1: 686-692, 1995.
[0031356]21944.Monzon, J.; Liu, L.; Brill, H.; Goldstein, A. M.; Tucker, M. A.; From, L.; McLaughlin, J.; Hogg, D.; Lassam, N. J.: CDKN2A mutations in multiple primary melanomas. New Eng. J. Med. 338: 879-887, 1998.
[0031357]21945.Mori, T.; Miura, K.; Aoki, T.; Nishihira, T.; Mori, S.; Nakamura, Y.: Frequent somatic mutation of the MTS1/CDK41 (multiple tumor suppressor/cyclin-dependent kinase 4 inhibitor) gene in esophageal squamous cell carcinoma. Cancer Res. 54: 3396-3397, 1994.
[0031358]21946.Nobori, T.; Miura, K.; Wu, D. J.; Lois, A.; Takabayashi, K.; Carson, D. A.: Deletions of the cyclin-dependent kinase-4 inhibitor gene in multiple human cancers. Nature 368: 753-756, 1994.
[0031359]21947.Ogawa, S.; Hirano, N.; Sato, N.; Takahashi, T.; Hangaishi, A.; Tanaka, K.; Kurokawa, M.; Tanaka, T.; Mitani, K.; Yazaki, Y.; Hirai, H.: Homozygous loss of the cyclin-dependent kinase 4-inhibitor (p16) gene in human leukemias. Blood 84: 2431-2435, 1994.
[0031360]21948.Ohhara, M.; Esumi, M.; Kurosu, Y.: Activation but not inactivation of the MTS1 gene is associated with primary colorectal carcinomas. Biochem. Biophys. Res. Commun. 226: 791-795, 1996.
[0031361]21949.Okuda, T.; Shurtleff, S. A.; Valentine, M. B.; Raimondi, S. C.; Head, D. R.; Behm, F.; Curcio-Brint, A. M.; Liu, Q.; Pui, C.-H.; Sherr, C. J.; Beach, D.; Look, A. T.; Downing, J. R.: Frequent deletion of p16(INK4a)/MTS1 and p15(INK4b)/MTS2 in pediatric acute lymphoblastic leukemia. Blood 85: 2321-2330, 1995.
[0031362]21950.Petronzelli, F.; Sollima, D.; Coppola, G.; Martini-Neri, M. E.; Neri, G.; Genuardi, M.: CDKN2A germline splicing mutation affecting both P16(ink4) and P14(arf) RNA processing in a melanoma/neurofibroma kindred. Genes Chromosomes Cancer 31: 398-401, 2001.
[0031363]21951.Petty, E. M.; Gibson, L. H.; Fountain, J. W.; Bolognia, J. L.; Yang-Feng, T. L.; Housman, D. E.; Bale, A. E.: Molecular definition of a chromosome 9p21 germ-line deletion in a woman with multiple melanomas and a plexiform neurofibroma: implications for 9p tumour suppressor gene(s). Am. J. Hum. Genet. 53: 96-104, 1993.
[0031364]21952.Pilon, C.; Pistorello, M.; Moscon, A.; Altavilla, G.; Pagotto, U.; Boscaro, M.; Fallo, F.: Inactivation of the p16 tumor suppressor gene in adrenocortical tumors. J. Clin. Endocr. Metab. 84: 2776-2779, 1999.
[0031365]21953.Pomerantz, J.; Schreiber-Agus, N.; Liegeois, N. J.; Silverman, A.; Alland, L.; Chin, L.; Potes, J.; Chen, K.; Orlow, I.; Lee, H.-W.; Cordon-Cardo, C.; DePinho, R. A.: The Ink4a tumor suppressor gene product, p19(Arf), interacts with MDM2 and neutralizes MDM2's inhibition of p53. Cell 92: 713-723, 1998.
[0031366]21954.Jayakumar, A.; Chirala, S. S.; Chinault, A. C.; Baldini, A.; Abu-Elheiga, L.; Wakil, S. J.: Isolation and chromosomal mapping of genomic clones encoding the human fatty acid synthase gene. Genomics 23: 420-424, 1994.
[0031367]21955.Jayakumar, A.; Tai, M.-H.; Huang, W.-Y.; Al-Feel, W.; Hsu, M.; Abu-Elheiga, L.; Chirala, S. S.; Wakil, S. J.: Human fatty acid synthase: properties and molecular cloning. Proc. Nat. Acad. Sci. 92: 8695-8699, 1995.
[0031368]21956.Loftus, T. M.; Jaworsky, D. E.; Frehywot, G. L.; Townsend, C. A.; Ronnett, G. V.; Lane, M. D.; Kuhajda, F. P.: Reduced food intake and body weight in mice treated with fatty acid synthase inhibitors. Science 288: 2379-2381, 2000.
[0031369]21957.Wakil, S. J.: Fatty acid synthase, a proficient multifunctional enzyme. Biochemistry 28: 4523-4530, 1989.
[0031370]21958.Ye, Q.; Chung, L. W. K.; Li, S.; Zhau, H. E.: Identification of a novel FAS/ER-alpha fusion transcript expressed in human cancer cells. Biochim. Biophys. Acta 1493: 373-377, 2000.
[0031371]21959.Argeson, A. C.; Druck, T.; Veronese, M. L.; Knopf, J. L.; Buchberg, A. M.; Huebner, K.; Siracusa, L. D.: Phospholipase C gamma-2 (Plcg2) and phospholipase C gamma-1 (Plcg1) map to distinct regions in the human and mouse genomes. Genomics 25: 29-35, 1995.
[0031372]21960.Hernandez, D.; Egan, S. E.; Yulug, I. G.; Fisher, E. M. C.: Mapping the gene that encodes phosphatidylinositol-specific phospholipase C-gamma-2 in the human and the mouse. Genomics 23: 504-507, 1994.
[0031373]21961.Kang, J. S.; Kohlhuber, F.; Hug, H.; Marme, D.; Eick, D.; Ueffing, M.: Cloning and functional analysis of the hematopoietic cell-specific phospholipase C-gamma-2 promoter. FEBS Lett. 399: 14-20, 1996.
[0031374]21962.Dumont, D. J.; Anderson, L.; Breitman, M. L.; Duncan, A. M. V. : Assignment of the endothelial-specific protein receptor tyrosine kinase gene (TEK) to human chromosome 9p21. Genomics 23: 512-513, 1994.
[0031375]21963.Dumont, D. J.; Yamaguchi, T. P.; Conlon, R. A.; Rossant, J.; Breitman, M. L.: tek, a novel tyrosine kinase gene located on mouse chromosome 4, is expressed in endothelial cells and their presumptive precursors. Oncogene 7: 1471-1480, 1992.
[0031376]21964.Delot, E.; King, L. M.; Briggs, M. D.; Wilcox, W. R.; Cohn, D. H.: Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene. Hum. Molec. Genet. 8: 123-128, 1999.
[0031377]21965.Oliner, J. D.; Andresen, J. M.; Hansen, S. K.; Zhou, S.; Tjian, R.: SREBP transcriptional activity is mediated through an interaction with the CREB-binding protein. Genes Dev. 10: 2903-2911, 1996.
[0031378]21966.Panagopoulos, I.; Fioretos, T.; Isaksson, M.; Samuelsson, U.; Billstrom, R.; Strombeck, B.; Mitelman, F.; Johansson, B.: Fusion of the MORF and CBP genes in acute myeloid leukemia with the t(10;16)(q22;p13). Hum. Molec. Genet. 10: 395-404, 2001.
[0031379]21967.Petrij, F.; Dorsman, J. C.; Dauwerse, H. G.; Giles, R. H.; Peeters, T.; Hennekam, R. C. M.; Breuning, M. H.; Peters, D. J. M.: Rubinstein-Taybi syndrome caused by a de novo reciprocal translocation t(2;16)(q36.3;p13.3). Am. J. Med. Genet. 92: 47-52, 2000.
[0031380]21968.Sobulo, O. M.; Borrow, J.; Tomek, R.; Reshmi, S.; Harden, A.; Schlegelberger, B.; Housman, D.; Doggett, N. A.; Rowley, J. D.; Zeleznik-Le, N. J.: MLL is fused to CBP, a histone acetyltransferase, in therapy-related acute myeloid leukemia with a t(11;16)(q23;p13.3). Proc. Nat. Acad. Sci. 94: 8732-8737, 1997.
[0031381]21969.Taine, L.; Goizet, C.; Wen, Z. Q.; Petrij, F.; Breuning, M. H.; Ayme, S.; Saura, R.; Arveiler, B.; Lacombe, D.: Submicroscopic deletion of chromosome 16p13.3 in patients with Rubinstein-Taybi syndrome. Am. J. Med. Genet. 78: 267-270, 1998.
[0031382]21970.Tini, M.; Benecke, A.; Um, S.-J.; Torchia, J.; Evans, R. M.; Chambon, P.: Association of CBP/p300 acetylase and thymine DNA glycosylase links DNA repair and transcription. Molec. Cell 9: 265-277, 2002.
[0031383]21971.Weaver, B. K.; Kumar, K. P.; Reich, N. C.: Interferon regulatory factor 3 and CREBbinding protein/p300 are subunits of double-stranded RNA-activated transcription factor DRAF1. Molec. Cell. Biol. 18: 1359-1368, 1998.
[0031384]21972.Wydner, K. L.; Bhattacharya, S.; Eckner, R.; Lawrence, J. B.; Livingston, D. M.: Localization of human CREB-binding protein gene (CREBBP) to 16p13.2-p13.3 by fluorescence in situ hybridization. Genomics 30: 395-396, 1995.
[0031385]21973.Yamauchi, T.; Oike, Y.; Kamon, J.; Waki, H.; Komeda, K.; Tsuchida, A.; Date, Y.; Li, M.-X.; Miki, H.; Akanuma, Y.; Nagai, R.; Kimura, S.; Saheki, T.; Nakazato, M.; Naitoh, T.; Yamamura, K.; Kadowaki, T.: Increased insulin sensitivity despite lipodystrophy in Crebbp heterozygous mice. Nature Genet. 30: 221-226, 2002.
[0031386]21974.Zanger, K.; Radovick, S.; Wondisford, F. E.: CREB binding protein recruitment to the transcription complex requires growth factor-dependent phosphorylation of its GF box. Molec. Cell 7: 551-558, 2001.
[0031387]21975.Hansen, J. J.; Durr, A.; Cournu-Rebeix, I.; Georgopoulos, C.; Ang, D.; Nielsen, M. N.; Davoine, C.-S.; Brice, A.; Fontaine, B.; Gregersen, N.; Bross, P.: Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. Am. J. Hum. Genet. 70: 1328-1332, 2002.
[0031388]21976.Todd, M. J.; Viitanen, P. V.; Lorimer, G. H.: Dynamics of the chaperonin ATPase cycle: implications for facilitated protein folding. Science 265: 659-666, 1994.
[0031389]21977.Hellevuo, K.; Berry, R.; Sikela, J. M.; Tabakoff, B.: Localization of the gene for a novel human adenylyl cyclase (ADCY7) to chromosome 16. Hum. Genet. 95: 197-200, 1995.
[0031390]21978.Hellevuo, K.; Yoshimura, M.; Kao, M.; Hoffman, P. L.; Cooper, D. M. F.; Tabakoff, B.: A novel adenylyl cyclase sequence cloned from the human erythroleukemia cell line. Biochem. Biophys. Res. Commun. 192: 311-318, 1993.
[0031391]21979.Moerman, P.; Fryns, J.-P.; Sastrowijoto, S. H.; Vandenberghe, K.; Lauweryns, J. M.: Hereditary renal adysplasia: new observations and hypotheses. Pediat. Path. 14: 405-410, 1994.
[0031392]21980.Kagawa, W.; Kurumizaka, H.; Ishitani, R.; Fukai, S.; Nureki, O.; Shibata, T.; Yokoyama, S.: Crystal structure of the homologous-pairing domain from the human Rad52 recombinase in the undecameric form. Molec. Cell 10: 359-371, 2002.
[0031393]21981.Shen, Z.; Denison, K.; Lobb, R.; Gatewood, J. M.; Chen, D. J.: The human and mouse homologs of the yeast RAD52 gene: cDNA cloning, sequence analysis, assignment to human chromosome 12p12.2-p13, and mRNA expression in mouse tissues. Genomics 25: 199-206, 1995.
[0031394]21982.Stapleton, D.; Woollatt, E.; Mitchelhill, K. I.; Nicholl, J. K.; Fernandez, C. S.; Michell, B. J.; Witters, L. A.; Power, D. A.; Sutherland, G. R.; Kemp, B. E.: AMP-activated protein kinase isoenzyme family: subunit structure and chromosomal location. FEBS Lett. 409: 452-456, 1997.
[0031395]21983.Cox, G. A.; Mahaffey, C. L.; Frankel, W. N.: Identification of mouse neuromuscular degeneration gene and mapping of a second site suppressor allele. Neuron 21: 1327-1337, 1998.
[0031396]21984.Fukita, Y.; Mituza, T.; Shirozu, M.; Ozawa, K.; Shimuzu, A.; Honjo, T.: The human Smu-bp2, a DNA-binding protein specific to the single-stranded guanine-rich sequence related to the immunoglobulin mu chain switch region. J. Biol. Chem. 268: 17463-17470, 1993.
[0031397]21985.Grohmann, K.; Schuelke, M.; Diers, A.; Hoffmann, K.; Lucke, B.; Adams, C.; Bertini, E.; Leonhardt-Horti, H.; Muntoni, F.; Ouvrier, R.; Pfeufer, A.; Rossi, R.; Van Maldergem, L.; Wilmshurst, J. M.; Wienker, T. F.; Sendtner, M.; Rudnik-Schoneborn, S.; Zerres, K.; Hubner, C.: Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. Nature Genet. 29: 75-77, 2001.
[0031398]21986.McBride, K.; Robitaille, L.; Tremblay, S.; Argentin, S.; Nemer, M.: Fos/jun repression of cardiac specific transcription is targeted at a tissue-specific cis element. Mol. Cell. Biol. 13: 600-612, 1993.
[0031399]21987.Sebastiani, G.; Durocher, D.; Gros, P.; Nemer, M.; Malo, D.: Localization of the Catf1 transcription factor gene to mouse chromosome 19. Mammalian Genome 6: 147-148, 1995.
[0031400]21988.Zonana, J.; Jones, M.; Browne, D.; Litt, M.; Kramer, P.; Becker, H. W.; Brockdorff, N.; Rastan, S.; Davies, K. P.; Clarke, A.; Thomas, N. S. T.: High-resolution mapping of the X-linked hypohidrotic ectodermal dysplasia (EDA) locus. Am. J. Hum. Genet. 51: 1036-1046, 1992.
[0031401]21989.Zonana, J.; Roberts, S. H.; Thomas, N. S. T.; Harper, P. S.: Recognition and reanalysis of a cell line from a manifesting female with X linked hypohidrotic ectodermal dysplasia and an X;autosome balanced translocation. J. Med. Genet. 25: 383-386, 1988.
[0031402]21990.Zonana, J.; Schnizel, A.; Upadhyaya, M.; Thomas, N. S. T.; Anton-Lamprecht, I.; Harper, P. S.: Prenatal diagnosis of X-linked hypohidrotic ectodermal dysplasia by linkage analysis. Am. J. Med. Genet. 35: 132-135, 1990.
[0031403]21991.Derry, J. M.; Barnard, P. J.: The gene for tissue inhibitor of metalloproteinases (TIMP) is located within an intron of the synapsin I gene on the X chromosome. (Abstract) Cytogenet. Cell Genet. 58: 2061-2062, 1991.
[0031404]21992.Gal, A.; Wieringa, B.; Smeets, D. F. C. M.; Bleeker-Wagemakers, L.; Ropers, H. H.: Submicroscopic interstitial deletion of the X chromosome explains a complex genetic syndrome dominated by Norrie disease. Cytogenet. Cell Genet. 42: 219-224, 1986.
[0031405]21993.Rugarli, E. I.; Ghezzi, C.; Valsecchi, V.; Ballabio, A.: The Kallmann syndrome gene product expressed in COS cells is cleaved on the cell surface to yield a diffusible component. Hum. Molec. Genet. 5: 1109-1115, 1996.
[0031406]21994.Schroffner, W. G.; Furth, E. D.: Hypogonadotropic hypogonadism with anosmia (Kallmann's syndrome) unresponsive to clomiphene citrate. J. Clin. Endocr. 31: 267-270, 1970.
[0031407]21995.Schwanzel-Fukuda, M.; Bick, D.; Pfaff, D. W.: Luteinizing hormone-releasing hormone (LHRH)-expressing cells do not migrate normally in an inherited hypogonadal (Kallmann) syndrome. Brain Res. Molec. Brain Res. 6: 311-326, 1989.
[0031408]21996.Soussi-Yanicostas, N.; de Castro, F.; Julliard, A. K.; Perfettini, I.; Chedotal, A.; Petit, C.: Anosmin-1, defective in the X-linked form of Kallmann syndrome, promotes axonal branch formation from olfactory bulb output neurons. Cell 109: 217-228, 2002.
[0031409]21997.Sparkes, R. S.; Simpson, R. W.; Paulsen, C. A.: Familial hypogonadotropic hypogonadism with anosmia. Arch. Intern. Med. 121: 534-538, 1968.
[0031410]21998.Wegenke, J. D.; Vehling, D. T.; Wear, J. B., Jr.; Gordon, E. S.; Bargman, G. J.; Deacon, J. S. R.; Herrmann, J. P. R.; Opitz, J. M. : Familial Kallmann syndrome with unilateral renal aplasia. Clin. Genet. 7: 368-381, 1975.
[0031411]21999.Soussi-Yanicostas, N.; Hardelin, J.-P.; del Mar Arroyo-Jimenez, M.; Ardouin, O.; Legouis, R.; Levilliers, J.; Traincard, F.; Betton, J.-M.; Cabanie, L.; Petit, C.: Initial characterization of anosmin-1, a putative extracellular matrix protein synthesized by definite neuronal cell populations in the central nervous system. J. Cell Sci. 109: 1749-1757, 1996.
[0031412]22000.Woods-Samuels, P.; Kazazian, H. H., Jr.; Antonarakis, S. E.: Nonhomologous recombination in the human genome: deletions in the human factor VIII gene. Genomics 10: 94-101, 1991.
[0031413]22001.Wray, S.; Grant, P.; Gainer, H.: Evidence that cells expressing luteinizing hormonereleasing hormone mRNA in the mouse are derived from progenitor cells in the olfactory placode. Proc. Nat. Acad. Sci. 86: 8132-8136, 1989.
[0031414]22002.Hata, A.; Tsuzuki, T.; Shimada, K.; Takiguchi, M.; Mori, M.; Matsuda, I.: Structure of the human ornithine transcarbamylase gene. J. Biochem. 103: 302-308, 1988.
[0031415]22003.Hata, A.; Tsuzuki, T.; Shimada, K.; Takiguchi, M.; Mori, M.; Matsuda, I.: Isolation and characterization of the human ornithine transcarbamylase gene: structure of the 5-prime-end region. J. Biochem. 100: 717-725, 1986.
[0031416]22004.Hauser, E. R.; Finkelstein, J. E.; Valle, D.; Brusilow, S. W. : Allopurinol-induced orotidinuria: a test for mutations at the ornithine carbamoyltransferase locus in women. New Eng. J. Med. 322: 1641-1645, 1990.
[0031417]22005.Hentzen, D.; Pelet, A.; Feldman, D.; Rabier, D.; Berthelot, J.; Munnich, A.: Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene. Hum. Genet. 88: 153-156, 1991.
[0031418]22006.Herrin, J. T.; McCredie, D. A.: Peritoneal dialysis in the reduction of blood ammonia levels in a case of hyperammonaemia. Arch. Dis. Child. 44: 149-151, 1969.
[0031419]22007.Hjelm, M.; de Silva, L. V. K.; Seakins, J. W. T.; Oberholzer, V. G.; Rolles, C. J.: Evidence of inherited urea cycle defect in a case of fatal valproate toxicity. Brit. Med. J. 292: 23-24, 1986.
[0031420]22008.Hokanson, J. T.; O'Brien, W. E.; Idemoto, J.; Schafer, I. A.: Carrier detection in ornithine transcarbamylase deficiency. J. Pediat. 93: 75-78, 1978.
[0031421]22009.Holmes, A. K.; Fowler, B.; Sardharwalla, I. B.: Late-onset ornithine carbamyl transferase deficiency in a male patient: detailed enzyme studies. J. Inherit. Metab. Dis. 10 (suppl. 2): 299-301, 1987.
[0031422]22010.Holzgreve, W.; Golbus, M. S.: Prenatal diagnosis of ornithine transcarbamylase deficiency utilizing fetal liver biopsy. Am. J. Hum. Genet. 36: 320-328, 1984.
[0031423]22011.Honeycutt, D.; Callahan, K.; Rutledge, L.; Evans, B.: Heterozygote ornithine transcarbamylase deficiency presenting as symptomatic hyperammonemia during initiation of valproate therapy. Neurology 42: 666-668, 1992.
[0031424]22012.Hoogenraad, N.; de Martinis, M. L.; Danks, D. M.: Immunological evidence for an ornithine transcarbamylase lesion resulting in the formation of enzyme with smaller protein subunits. J. Inherit. Metab. Dis. 6: 149-152, 1983.
[0031425]22013.Hopkins, I. J.; Connelly, J. F.; Dawson, A. G.; Hird, F. J.; Maddison, T. G.: Hyperammonaemia due to ornithine transcarbamylase deficiency. Arch. Dis. Child. 44: 143-148, 1969.
[0031426]22014.Horwich, A. L.; Fenton, W. A.; Williams, K. R.; Kalousek, F.; Kraus, J. P.; Doolittle, R. F.; Konigsberg, W.; Rosenberg, L. E.: Structure and expression of a complementary DNA for the nuclear coded precursor of human mitochondrial ornithine transcarbamylase. Science 224: 1069-1074, 1984.
[0031427]22015.Horwich, A. L.; Kalousek, F.; Fenton, W. A.; Pollock, R. A.; Rosenberg, L. E.: Targeting of pre-ornithine transcarbamylase to mitochondria: definition of critical regions and residues in the leader peptide. Cell 44: 451-459, 1986.
[0031428]22016.Horwich, A. L.; Kalousek, F.; Mellman, I.; Rosenberg, L. E.: A leader peptide is sufficient to direct mitochondrial import of a chimeric protein. EMBO J. 4: 1129-1135, 1985.
[0031429]22017.Horwich, A. L.; Kraus, J. P.; Williams, K.; Kalousek, F.; Konigsberg, W.; Rosenberg, L. E.: Molecular cloning of the cDNA coding for rat ornithine transcarbamoylase. Proc. Nat. Acad. Sci. 80: 4258-4262, 1983.
[0031430]22018.Hurt, E. C.; van Loon, A. P. G. M.: How proteins find mitochondria and intramitochondrial compartments. Trends Biochem. Sci. 11: 204-207, 1986.
[0031431]22019.Kang, E. S.; Solomon, S. S.; Gates, R. E.; Schaeffer, S. J.: Red blood cell insulin binding studies in Reye's syndrome survivors and families. Endocr. Res. Commun. 9: 121-133, 1982.
[0031432]22020.Kay, J. D. S.; Hilton-Jones, D.; Hyman, N.: Valproate toxicity and ornithine carbamoyltransferase deficiency. (Letter) Lancet II: 1283-1284, 1986.
[0031433]22021.Kodama, H.; Ohtake, A.; Mori, M.; Okabe, I.; Tatibana, M.; Kamoshita, S.: Ornithine transcarbamylase deficiency: a case with a truncated enzyme precursor and a case with undetectable mRNA activity. J. Inherit. Metab. Dis. 9: 175-185, 1986.
[0031434]22022.Komaki, S.; Matsuura, T.; Oyanagi, K.; Hoshide, R.; Kiwaki, K.; Endo, F.; Shimadzu, M.; Matsuda, I.: Familial lethal inheritance of a mutated paternal gene in females causing X-linked ornithine transcarbamylase (OTC) deficiency. Am. J. Med. Genet. 69: 177-181, 1997.
[0031435]22023.Kornfeld, M.; Woodfin, B. M.; Papile, L.; Davis, L. E.; Bernard, L. R.: Neuropathology of ornithine carbamyl transferase deficiency. Acta Neuropath. 65: 261-264, 1985.
[0031436]22024.Korson, M. S.; Lillehei, C. W.; Vacanti, J. P.; Levy, H. L.: Liver transplantation for ornithine transcarbamylase deficiency (OTCD). (Abstract) Am. J. Hum. Genet. 45 (suppl.): A8, 1989.
[0031437]22025.Krieger, I.; Snodgrass, P. J.; Roskamp, J.: Atypical clinical course of ornithine transcarbamylase deficiency due to a new mutant (comparison with Reye's disease). J. Clin. Endocr. Metab. 48: 388-392, 1979.
[0031438]22026.Lee, J. T.; Nussbaum, R. L.: An arginine to glutamine mutation in residue 109 of human ornithine transcarbamylase completely abolishes enzymatic activity in COS1 cells. J. Clin. Invest. 84: 1762-1766, 1989.
[0031439]22027.Legius, E.; Baten, E.; Stul, M.; Marynen, P.; Cassiman, J.-J. : Sporadic late onset ornithine transcarbamylase deficiency in a boy with somatic mosaicism for an intragenic deletion. Clin. Genet. 38: 155-159, 1990.
[0031440]22028.Levin, B.; Abraham, J. M.; Oberholzer, V. G.; Burgess, E. A.: Hyperammonaemia: a deficiency of liver ornithine transcarbamylase. Occurrence in mother and child. Arch. Dis. Child. 44: 152-161, 1969.
[0031441]22029.Lindgren, V.; de Martinville, B.; Horwich, A. L.; Rosenberg, L. E.; Francke, U.: Human ornithine transcarbamylase locus mapped to band Xp21.1 near Duchenne muscular dystrophy locus. Science 226: 698-700, 1984.
[0031442]22030.Maddalena, A.; Sosnoski, D. M.; Berry, G. T.; Nussbaum, R. L. : Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiency. New Eng. J. Med. 319: 999-1003, 1988.
[0031443]22031.Maddalena, A.; Spence, J. E.; O'Brien, W. E.; Nussbaum, R. L. : Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency. J. Clin. Invest. 82: 1353-1358, 1988.
[0031444]22032.Maestri, N. E.; Brusilow, S. W.; Clissold, D. B.; Bassett, S. S.: Long-term treatment of girls with ornithine transcarbamylase deficiency. New Eng. J. Med. 335: 855-859, 1996.
[0031445]22033.Maestri, N. E.; Hauser, E. R.; Bartholomew, D.; Brusilow, S. W. : Prospective treatment of urea cycle disorders. J. Pediat. 119: 923-928, 1991.
[0031446]22034.Alitalo, T.; Karna, J.; Forsius, H.; de la Chapelle, A.: X-linked retinoschisis is closely linked to DXS41 and DXS16 but not DXS85. Clin. Genet. 32: 192-195, 1987.
[0031447]22035.Alitalo, T.; Kruse, T. A.; de la Chapelle, A.: Refined localization of the gene causing X-linked juvenile retinoschisis. Genomics 9: 505-510, 1991.
[0031448]22036.Arden, G. B.; Gorin, M. B.; Polkinghorne, P. J.; Jay, M.; Bird, A. C.: Detection of the carrier state of X-linked retinoschisis. Am. J. Ophthal. 105: 590-595, 1988.
[0031449]22037.Byrne, J.; Warburton, D.: Male excess among anatomically normal fetuses in spontaneous abortions. Am. J. Med. Genet. 26: 605-611, 1987.
[0031450]22038.Dahl, N.; Goonewardena, P.; Chotai, J.; Anvret, M.; Pettersson, U.: DNA linkage of Xlinked retinoschisis. Hum. Genet. 78: 228-232, 1988.
[0031451]22039.Dahl, N.; Goonewardena, P.; Chotai, J.; Wadelius, C.; Lindsten, J.; Pettersson, U.: DNA linkage analysis of X-chromosome linked retinoschisis. (Abstract) Cytogenet. Cell Genet. 46: 602, 1987.
[0031452]22040.de Jong, P. T. V. M.; Zrenner, E.; van Meel, G. J.; Keunen, J. E. E.; van Norren, D.: Mizuo phenomenon in X-linked retinoschisis: pathogenesis of the Mizuo phenomenon. Arch. Ophthal. 109: 1104-1108, 1991.
[0031453]22041.de la Chapelle, A.; Alitalo, T.; Forsius, H.: X-linked juvenile retinoschisis.In: Wright, A.; Jay, B. (eds.): Molecular Genetics of Inherited Eye Disorders. Chur: Harwood Academic Publ. (1st ed.): 1994.
[0031454]22042.Eksandh, L. C.; Ponjavic, V.; Ayyagari, R.; Bingham, E. L.; Hiriyanna, K. T.; Andreasson, S.; Ehinger, B.; Sieving, P. A.: Phenotypic expression of juvenile X-linked retinoschisis in Swedish families with different mutations in the XLRS1 gene. Arch. Ophthal. 118: 1098-1104, 2000.
[0031455]22043.Eriksson, A. W.; Vainio-Mattila, B.; Krause, U.; Fellman, J.; Forsius, H.: Secondary sex ratio in families with X-chromosomal disorders. Hereditas 57: 373-381, 1967.
[0031456]22044.Forsius, H.; Eriksson, A.; Vainio-Mattila, B.: Geschlechtsgebundene, erbliche Retinoschisis in zwei Familien in Finnland. Klin. Mbl. Augenheilk. 143: 806-816, 1963.
[0031457]22045.Forsius, H.; Krause, U.; Helve, J.; Vuopala, V.; Mustonen, E.; Vainio-Mattila, B.; Fellman, J.; Eriksson, A. W.: Visual acuity in 183 cases of X-chromosomal retinoschisis. Canad. J. Ophthal. 8: 385-393, 1973.
[0031458]22046.Forsius, H.; Vainio-Mattila, B.; Eriksson, A.: X-linked hereditary retinoschisis. Brit. J. Ophthal. 46: 678-681, 1962.
[0031459]22047.Forsius, H. R.: Personal Communication. Oulu, Finland 1/1977.
[0031460]22048.Forsius, H. R.; Eriksson, A. W.: Retinoschisis X-chromosomalis.In: Eriksson, A. W.; Forsius, H. R.; Nevanlinna, H. R.; Workman, P. L.; Norio, R. K. (eds.): Population Structure and Genetic Disorders. New York: Academic Press (pub.) 1980. Pp. 673-676.
[0031461]22049.Gehrig, A.; Weber, B. H. F.; Lorenz, B.; Andrassi, M.: First molecular evidence for a de novo mutation in RS1 (XLRS1) associated with X-linked juvenile retinoschisis. J. Med. Genet. 36: 932-934, 1999.
[0031462]22050.Gellert, G.; Petersen, J.; Krawczak, M.; Zoll, B.: Linkage relationship between retinoschisis and four marker loci. Hum. Genet. 79: 382-384, 1988.
[0031463]22051.George, N. D. L.; Yates, J. R. W.; Bradshaw, K.; Moore, A. T. : Infantile presentation of X linked retinoschisis. Brit. J. Ophthal 79: 653-657, 1995.
[0031464]22052.George, N. D. L.; Yates, J. R. W.; Moore, A. T.: X linked retinoschisis. Brit. J. Ophthal. 79: 697-702, 1995.
[0031465]22053.Gieser, E. P.; Falls, H. F.: Hereditary retinoschisis. Am. J. Ophthal. 51: 1193-1200, 1961.
[0031466]22054.Grayson, C.; Reid, S. N. M.; Ellis, J. A.; Rutherford, A.; Sowden, J. C.; Yates, J. R. W.; Farber, D. B.; Trump, D.: Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells. Hum. Molec. Genet. 9: 1873-1879, 2000.
[0031467]22055.Haas, J.: Ueber das Zusammenvorkommen von Veranderungen der Retina und Chorioidea. Arch. Augenheilk. 37: 343-348, 1898.
[0031468]22056.Huopaniemi, L.; Rantala, A.; Forsius, H.; Somer, M.; de la Chapelle, A.; Alitalo, T.: Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland. Europ. J. Hum. Genet. 7: 368-376, 1999.
[0031469]22057.Huopaniemi, L.; Rantala, A.; Tahvanainen, E.; de la Chapelle, A.; Alitalo, T.: Linkage disequilibrium and physical mapping of X-linked juvenile retinoschisis. Am. J. Hum. Genet. 60: 1139-1149, 1997.
[0031470]22058.Inoue, Y.; Yamamoto, S.; Okada, M.; Tsujikawa, M.; Inoue, T.; Okada, A. A.; Kusaka, S.; Saito, Y.; Wakabayashi, K.; Miyake, Y.; Fujikado, T.; Tano, Y.: X-linked retinoschisis with point mutations in the XLRS1 gene. Arch. Ophthal. 118: 93-96, 2000.
[0031471]22059.Ives, E. J.; Ewing, C. C.; Innes, R.: X-linked juvenile retinoschisis and Xg linkage in five families. (Abstract) Am. J. Hum. Genet. 22: 17A-18A, 1970.
[0031472]22060.Kaplan, J.; Pelet, A.; Hentati, H.; Jeanpierre, M.; Briard, M. L.; Journel, H.; Munnich, A.; Dufier, J. L.: Contribution to carrier detection and genetic counselling in X linked retinoschisis. J. Med. Genet. 28: 383-388, 1991.
[0031473]22061.Kato, K.; Miyake, Y.; Kachi, S.; Suzuki, T.; Terasaki, H.; Kawase, Y.; Kanda, T.: Axial length and refractive error in X-linked retinoschisis. Am. J. Ophthal. 131: 812-814, 2001.
[0031474]22062.Kleinert, H.: Eine recessiv-geschlechtsgebundene Form der idiopathischen Netzhautspaltung bei nichtmyopen Jugendlichen. Albrecht von Graefes Arch. Klin. Exp. Ophthal. 154: 295-305, 1953.
[0031475]22063.Mann, I.; MacRae, A.: Congenital vascular veils in the vitreous. Brit. J. Ophthal. 22: 1-10, 1938.
[0031476]22064.Manschot, W. A.: Pathology of hereditary juvenile retinoschisis. Arch. Ophthal. 88: 131-138, 1972.
[0031477]22065.Newton, M. S.; Collyer, S.; Phillips, C. I.: Male proband with X linked retinoschisis apparently inherited from his father's family. (Letter) J. Med. Genet. 28: 213-214, 1991.
[0031478]22066.Pagenstecher, H. E.: Ueber eine unter dem Bilde der Netzhautablosung verlaufende, erbliche Erkrankung der Retina. Graefes Arch. Ophthal. 86: 457-462, 1913.
[0031479]22067.Pawar, H.; Bingham, E. L.; Lunetta, K. L.; Segal, M.; Richards, J. E.; Boehnke, M.; Sieving, P. A.: Refined genetic mapping of juvenile X-linked retinoschisis. Hum. Hered. 45: 206-210, 1995.
[0031480]22068.Retinoschisis Consortium: Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS). Hum. Molec. Genet. 7: 1185-1192, 1998.
[0031481]22069.Sauer, C. G.; Gehrig, A.; Warneke-Wittstock, R.; Marquardt, A.; Ewing, C. C.; Gibson, A.; Lorenz, B.; Jurklies, B.; Weber, B. H. F. : Positional cloning of the gene associated with X-linked juvenile retinoschisis. Nature Genet. 17: 164-170, 1997.
[0031482]22070.Sieving, P. A.; Bingham, E. L.; Roth, M. S.; Young, M. R.; Boehnke, M.; Kuo, C.-Y.; Ginsburg, D.: Linkage relationship of X-linked juvenile retinoschisis with Xp22.1-p22.3 probes. Am. J. Hum. Genet. 47: 616-621, 1990.
[0031483]22071.Sorsby, A.; Klein, M.; Gann, J. H.; Siggins, G.: Unusual retinal detachment, possibly sex linked. Brit. J. Ophthal. 35: 1-10, 1951.
[0031484]22072.Springer, W. R.; Cooper, D. N.; Barondes, S. H.: Discoidin I is implicated in cellsubstratum attachment and ordered cell migration of Dictyostelium discoideum and resembles fibronectin. Cell 39: 557-564, 1984.
[0031485]22073.Vainio-Mattila, B.; Eriksson, A. W.; Forsius, H.: X-chromosomal recessive retinoschisis in the region of Pori: an ophthalmo-genetical analysis of 103 cases. Acta Ophthal. 47: 1135-1148, 1969.
[0031486]22074.Van de Vosse, E.; Bergen, A. A. B.; Meershoek, E. J.; Oosterwijk, J. C.; Gregory, S.; Bakker, B.; Weissenbach, J.; Coffey, A. J.; van Ommen, G.-J. B.; Den Dunnen, J. T.: An Xp22.1-p22.2 YAC contig encompassing the disease loci for RS, KFSD, CLS, HYP and RP15: refined localization of RS. Europ. J. Hum. Genet. 4: 101-104, 1996.
[0031487]22075.Weber, B. H. F.; Schrewe, H.; Molday, L. L.; Gehrig, A.; White, K. L.; Seeliger, M. W.; Jaissle, G. B.; Friedburg, C.; Tamm, E.; Molday, R. S.: Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure. Proc. Nat. Acad. Sci. 99: 6222-6227, 2002.
[0031488]22076.Wieacker, P.; Wienker, T. F.; Dallapiccola, B.; Bender, K.; Davies, K. E.; Ropers, H. H.: Linkage relationships between retinoschisis, Xg, and a cloned DNA sequence from the distal short arm of the X chromosome. Hum. Genet. 64: 143-145, 1983.
[0031489]22077.Yanoff, M.; Kertesz Rahn, E.; Zimmerman, L. E.: Histopathology of juvenile retinoschisis. Arch. Ophthal. 79: 49-53, 1968.
[0031490]22078.Hiraoka, M.; Trese, M. T.; Shastry, B. S.: X-linked juvenile retinoschisis associated with a 4-base pair insertion at codon 55 of the XLRS1 gene. Biochem. Biophys. Res. Commun. 268: 370-372, 2000.
[0031491]22079.Hiriyanna, K. T.; Bingham, E. L.; Yashar, B. M.; Ayyagari, R.; Fishman, G.; Small, K. W.; Weinberg, D. V.; Weleber, R. G.; Lewis, R. A.; Andreasson, S.; Richards, J. E.; Sieving, P. A.: Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change. Hum. Mutat. 14: 423-427, 1999.
[0031492]22080.Newman, J. H.; Wheeler, L.; Lane, K. B.; Loyd, E.; Gaddipati, R.; Phillips, J. A., III; Loyd, J. E.: Mutation in the gene for bone morphogenetic protein receptor II as a cause of primary pulmonary hypertension in a large kindred. New Eng. J. Med. 345: 319-324, 2001. Note: Erratum. New Eng. J. Med. 345: 1506 only, 2001.
[0031493]22081.Rosenzweig, B. L.; Imamura, T.; Okadome, T.; Cox, G. N.; Yamashita, H.; ten Dijke, P.; Heldin, C.-H.; Miyazono, K.: Cloning and characterization of a human type II receptor for bone morphogenetic proteins. Proc. Nat. Acad. Sci. 92: 7632-7636, 1995.
[0031494]22082.Di Paola, R.; Frittitta, L.; Miscio, G.; Bozzali, M.; Baratta, R.; Centra, M.; Spampinato, D.; Santagati, M. G.; Ercolino, T.; Cisternino, C.; Soccio, T. Mastroianno, S.; Tassi, V.; Almgren, P.; Pizzuti, A.; Vigneri, R.; Trischitta, V.: A variation in 3-prime UTR of hPTP1B increases specific gene expression and associates with insulin resistance. Am. J. Hum. Genet. 70: 806-812, 2002.
[0031495]22083.Bradley, D. G.; Farrar, G. J.; Sharp, E. M.; Kenna, P.; Humphries, M. M.; McConnell, D. J.; Daiger, S. P.; McWilliam, P.; Humphries, P.: Autosomal dominant retinitis pigmentosa: exclusion of the gene from the short arm of chromosome 1 including the region surrounding the Rhesus locus. Am. J. Hum. Genet. 44: 570-576, 1989.
[0031496]22084.Mutt, V.; Jorpes, J. E.; Magnusson, S.: Structure of porcine secretin: the amino acid sequence. Europ. J. Biochem. 15: 513-519, 1970.
[0031497]22085.Narducci, M. G.; Fiorenza, M. T.; Kang, S.-M.; Bevilacqua, A.; Di Giacomo, M.; Remotti, D.; Picchio, M. C.; Fidanza, V.; Cooper, M. D.; Croce, C. M.; Mangia, F.; Russo, G.: TCL1 participates in early embryonic development and is overexpressed in human seminomas. Proc. Nat. Acad. Sci. 99: 11712-11717, 2002.
[0031498]22086.Casey, G.; Yamanaka, Y.; Freiss, H.; Kobrin, M. S.; Lopez, M. E.; Buchler, M.; Beger, H. G.; Korc, M.: p53 mutations are common in pancreatic cancer and are absent in chronic pancreatitis. Cancer Lett. 69: 151-160, 1993.
[0031499]22087.Castedo, M.; Ferri, K. F.; Blanco, J.; Roumier, T.; Larochette, N.; Barretina, J.; Amendola, A.; Nardacci, R.; Metivier, D.; Este, J. A.; Piacentini, M.; Kroemer, G.: Human immunodeficiency virus 1 envelope glycoprotein complex-induced apoptosis involves mammalian target of rapamycin/FKBP12-rapamycin-associated protein-mediated p53 phosphorylation. J. Exp. Med. 194: 1097-1110, 2001.
[0031500]22088.Chen, L.-C.; Neubauer, A.; Kurisu, W.; Waldman, F. M.; Ljung, B.-M.; Goodson, W., III; Goldman, E. S.; Moore, D., II; Balazs, M.; Liu, E.; Mayall, B. H.; Smith, H. S.: Loss of heterozygosity on the short arm of chromosome 17 is associated with high proliferative capacity and DNA aneuploidy in primary human breast cancer. Proc. Nat. Acad. Sci. 88: 3847-3851, 1991.
[0031501]22089.Chen, P.-L.; Chen, Y.; Bookstein, R.; Lee, W.-H.: Genetic mechanisms of tumor suppression by the human p53 gene. Science 250: 1576-1580, 1990.
[0031502]22090.Chiba, I.; Takahashi, T.; Nau, M. M.; D'Amico, D.; Curiel, D. T.; Mitsudomi, T.; Buchhagen, D. L.; Carbone, D.; Piantadosi, S.; Koga, H.; Reissman, P.; Slamon, D. J.; Holmes, E. C.; Minna, J. D. : Mutations in the p53 gene are frequent in primary, resected non-small cell lung cancer. Oncogene 5: 1603-1610, 1990.
[0031503]22091.Cho, Y.; Gorina, S.; Jeffrey, P. D.; Pavletich, N. P.: Crystal structure of a p53 tumor suppressor-DNA complex: understanding tumorigenic mutations. Science 265: 346-355, 1994.
[0031504]22092.Chumakov, A. M.; Miller, C. W.; Chen, D. L.; Koeffler, H. P.: Analysis of p53 transactivation through high-affinity binding sites. Oncogene 8: 3005-3011, 1993.
[0031505]22093.Chung, R. Y.; Whaley, J. M.; Anderson, K. M.; Freiman, R. N.; Menon, A. G.; Seizinger, B. R.: p53 gene mutations in human glioblastomas associated with early age onset and better survival. (Abstract) Am. J. Hum. Genet. 47 (suppl.): A4, 1990.
[0031506]22094.Conseiller, E.; Debussche, L.; Landais, D.; Venot, C.; Maratrat, M.; Sierra, V.; Tocque, B.; Bracco, L.: CTS1: a p53-derived chimeric tumor suppressor gene with enhanced in vitro apoptotic properties. J. Clin. Invest. 101: 120-127, 1998.
[0031507]22095.Cooper, D. N.; Youssoufian, H.: The CpG dinucleotide and human genetic disease. Hum. Genet. 78: 151-155, 1988.
[0031508]22096.Crawford, L.: Human p53 and human tumours. BioEssays 3: 117-120, 1985.
[0031509]22097.Crook, T.; Wrede, D.; Tidy, J. A.; Mason, W. P.; Evans, D. J.; Vousden, K. H.: Clonal p53 mutation in primary cervical cancer: association with human-papillomavirus-negative tumours. Lancet 339: 1070-1073, 1992.
[0031510]22098.Culotta, E.; Koshland, D. E., Jr.: p53 sweeps through cancer research. Science 262: 1958-1959, 1993.
[0031511]22099.Denissenko, M. F.; Chen, J. X.; Tang, M.; Pfeifer, G. P.: Cytosine methylation determines hot spots of DNA damage in the human P53 gene. Proc. Nat. Acad. Sci. 94: 3893-3898, 1997.
[0031512]22100.Denissenko, M. F.; Pao, A.; Tang, M.; Pfeifer, G. P.: Preferential formation of benzo(a)pyrene adducts at lung cancer mutational hot spots in P53. Science 274: 430-434, 1996.
[0031513]22101.Derry, W. B.; Putzke, A. P.; Rothman, J. H.: Caenorhabditis elegans p53: role in apoptosis, meiosis, and stress resistance. Science 294: 591-595, 2001.
[0031514]22102.DiGiammarino, E. L.; Lee, A. S.; Cadwell, C.; Zhang, W.; Bothner, B.; Ribeiro, R. C.; Zambetti, G.; Kriwacki, R. W.: A novel mechanism of tumorigenesis involving pH-dependent destabilization of a mutant p53 tetramer. Nature Struct. Biol. 9: 12-16, 2002.
[0031515]22103.Donehower, L. A.; Harvey, M.; Slagle, B. L.; McArthur, M. J.; Montgomery, C. A., Jr.; Butel, J. S.; Bradley, A.: Mice deficient for p53 are developmentally normal but susceptible to spontaneous tumours. Nature 356: 215-221, 1992.
[0031516]22104.Dumaz, N.; Drougard, C.; Sarasin, A.; Daya-Grosjean, L.: Specific UV-induced mutation spectrum in the p53 gene of skin tumors from DNA-repair-deficient xeroderma pigmentosum patients. Proc. Nat. Acad. Sci. 90: 10529-10533, 1993.
[0031517]22105.El-Deiry, W. S.; Kern, S. E.; Pietenpol, J. A.; Kinzler, K. W.; Vogelstein, B.: Definition of a consensus binding site for p53. Nature Genet. 1: 45-49, 1992.
[0031518]22106.El-Deiry, W. S.; Tokino, T.; Velculescu, V. E.; Levy, D. B.; Parsons, R.; Trent, J. M.; Lin, D.; Mercer, E.; Kinzler, K. W.; Vogelstein, B.: WAF1, a potential mediator of p53 tumor suppression. Cell 75: 817-825, 1993.
[0031519]22107.Moore, K. J.; D'Amore-Bruno, M. A.; Korfhagen, T. R.; Glasser, S. W.; Whitsett, J. A.; Jenkins, N. A.; Copeland, N. G.: Chromosomal localization of three pulmonary surfactant protein genes in the mouse. Genomics 12: 388-393, 1992.
[0031520]22108.Nogee, L. M.; Dunbar, A. E., III; Wert, S. E.; Askin, F.; Hamvas, A.; Whitsett, J. A.: A mutation in the surfactant protein C gene associated with familial interstitial lung disease. New Eng. J. Med. 344: 573-579, 2001.
[0031521]22109.Warr, R. G.; Hawgood, S.; Buckley, D. I.; Crisp, T. M.; Schilling, J.; Benson, B. J.; Ballard, P. L.; Clements, J. A.; White, R. T.: Low molecular weight human pulmonary surfactant protein (SP5): isolation, characterization, and cDNA and amino acid sequences. Proc. Nat. Acad. Sci. 84: 7915-7919, 1987.
[0031522]22110.Wood, S.; Yaremko, M. L.; Schertzer, M.; Kelemen, P. R.; Minna, J.; Westbrook, C. A.: Mapping of the pulmonary surfactant SP5 (SFTP2) locus to 8p21 and characterization of a microsatellite repeat marker that shows frequent loss of heterozygosity in human carcinomas. Genomics 24: 597-600, 1994.
[0031523]22111.Kolble, K.; Lu, J.; Mole, S. E.; Kaluz, S.; Reid, K. B. M.: Assignment of the human pulmonary surfactant protein D gene (SFTP4) to 10q22-q23 close to the surfactant protein A gene cluster. Genomics 17: 294-298, 1993.
[0031524]22112.Botas, C.; Poulain, F.; Akiyama, J.; Brown, C.; Allen, L.; Goerke, J.; Clements, J.; Carlson, E.; Gillespie, A. M.; Epstein, C.; Hawgood, S.: Altered surfactant homeostasis and alveolar type II cell morphology in mice lacking surfactant protein D. Proc. Nat. Acad. Sci. 95: 11869-11874, 1998.
[0031525]22113.Crouch, E.; Rust, K.; Veile, R.; Donis-Keller, H.; Grosso, L.: Genomic organization of human surfactant protein D (SP-D): SP-D is encoded on chromosome 10q22.2-23.1. J. Biol. Chem. 268: 2976-2983, 1993.
[0031526]22114.Holmskov, U.; Lawson, P.; Teisner, B.; Tornoe, I.; Willis, A. C.; Morgan, C.; Koch, C.; Reid, K. B. M.: Isolation and characterization of a new member of the scavenger receptor superfamily, glycoprotein-340 (gp-340), as a lung surfactant protein-D binding molecule. J. Biol. Chem. 272: 13743-13749, 1997.
[0031527]22115.Holmskov, U.; Mollenhauer, J.; Madsen, J.; Vitved, L.; Gronlund, J.; Tornoe, I.; Kliem, A.; Reid, K. B. M.; Poustka, A.; Skjodt, K. : Cloning of gp-340, a putative opsonin receptor for lung surfactant protein D. Proc. Nat. Acad. Sci. 96: 10794-10799, 1999.
[0031528]22116.LeVine, A. M.; Whitsett, J. A.; Hartshorn, K. L.; Crouch, E. C.; Korfhagen, T. R.: Surfactant protein D enhances clearance of influenza A virus from the lung in vivo. J. Immun. 167: 5868-5873, 2001.
[0031529]22117.Lu, J.; Willis, A. C.; Reid, K. B. M.: Purification, characterization and cDNA cloning of human lung surfactant protein D. Biochem. J. 284: 795-802, 1992.
[0031530]22118.Rust, K.; Grosso, L.; Zhang, V.; Chang, D.; Persson, A.; Longmore, W.; Cai, G.-Z.; Crouch, E.: Human surfactant protein D: SP-D contains a C-type lectin carbohydrate recognition domain. Arch. Biochem. Biophys. 290: 116-126, 1991.
[0031531]22119.Wert, S. E.; Yoshida, M.; LeVine, A. M.; Ikegami, M.; Jones, T.; Ross, G. F.; Fisher, J. H.; Korfhagen, T. R.; Whitsett, J. A.: Increased metalloproteinase activity, oxidant production, and emphysema in surfactant protein D gene-inactivated mice. Proc. Nat. Acad. Sci. 97: 5972-5977, 2000.
[0031532]22120.Bunge, S.; Wedemann, H.; David, D.; Terwilliger, D. J.; van den Born, L. I.; Aulehla-Scholz, C.; Samanns, C.; Horn, M.; Ott, J.; Schwinger, E.; Schinzel, A.; Denton, M. J.; Gal, A.: Molecular analysis and genetic mapping of the rhodopsin gene in families with autosomal dominant retinitis pigmentosa. Genomics 17: 230-233, 1993.
[0031533]22121.Chang, H.-Y.; Ready, D. F.: Rescue of photoreceptor degeneration in rhodopsin-null Drosophila mutants by activated Rac1. Science 290: 1978-1980, 2000.
[0031534]22122.Dikshit, M.; Agarwal, R.: Mutation analysis of codons 345 and 347 of rhodopsin gene in Indian retinitis pigmentosa patients. J. Genet. 80: 111-116, 2001.
[0031535]22123.Dryja, T. P.; Hahn, L. B.; Cowley, G. S.; McGee, T. L.; Berson, E. L.: Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa. Proc. Nat. Acad. Sci. 88: 9370-9374, 1991.
[0031536]22124.Dryja, T. P.; McGee, T. L.; Hahn, L. B.; Cowley, G. S.; Olsson, J. E.; Reichel, E.; Sandberg, M. A.; Berson, E. L.: Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. New Eng. J. Med. 323: 1302-1307, 1990.
[0031537]22125.Donis-Keller, H.; Green, P.; Helms, C.; Cartinhour, S.; Weiffenbach, B.; Stephens, K.; Keith, T. P.; Bowden, D. W.; Smith, D. R.; Lander, E. S.; Botstein, D.; Akots, G.; Rediker, K. S.; Gravius, T.: Brown, V. A.; Rising, M. B.; Parker, C.; Powers, J. A.; Watt, D. E.; Kauffman, E. R.; Bricker, A.; Phipps, P.; Muller-Kahle, H.; Fulton, T. R.; Ng, S.; Schumm, J. W.; Braman, J. C.; Knowlton, R. G.; Barker, D. F.; Crooks, S. M.; Lincoln, S. E.; Daly, M. J. and Abrahamson, J.: A genetic linkage map of the human genome. Cell 51: 319-337, 1987.
[0031538]22126.Dryja, T. P.; McGee, T. L.; Hahn, L. B.; Cowley, G. S.; Olsson, J. E.; Reichel, E.; Sandberg, M. A.; Berson, E. L.: Missense mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. (Abstract) Am. J. Hum. Genet. 47 (suppl.): A54, 1990.
[0031539]22127.Dryja, T. P.; McGee, T. L.; Reichel, E.; Hahn, L. B.; Cowley, G. S.; Yandell, D. W.; Sandberg, M. A.; Berson, E. L.: A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature 343: 364-366, 1990.
[0031540]22128.Elliott, R. W.; Sparkes, R. S.; Mohandas, T.; Grant, S. G.; McGinnis, J. F.: Localization of the rhodopsin gene to the distal half of mouse chromosome 6. Genomics 6: 635-644, 1990.
[0031541]22129.Farrar, G. J.; Findlay, J. B. C.; Kumar-Singh, R.; Kenna, P.; Humphries, M. M.; Sharpe, E.; Humphries, P.: Autosomal dominant retinitis pigmentosa: a novel mutation in the rhodopsin gene in the original 3q linked family. Hum. Molec. Genet. 1: 769-771, 1992.
[0031542]22130.Farrar, G. J.; Kenna, P.; Redmond, R.; McWilliam, P.; Bradley, D. G.; Humphries, M. M.; Sharp, E. M.; Inglehearn, C. F.; Bashir, R.; Jay, M.; Watty, A.; Ludwig, M.; Schinzel, A.; Samanns, C.; Gal, A.; Bhattacharya, S.; Humphries, P.: Autosomal dominant retinitis pigmentosa: absence of the rhodopsin proline-to-histidine substitution (codon 23) in pedigrees from Europe. Am. J. Hum. Genet. 47: 941-945, 1990.
[0031543]22131.Farrar, G. J.; Kenna, P.; Redmond, R.; Shiels, D.; McWilliam, P.; Humphries, M. M.; Sharp, E. M.; Jordan, S.; Kumar-Singh, R.; Humphries, P.: Autosomal dominant retinitis pigmentosa: a mutation in codon 178 of the rhodopsin gene in two families of Celtic origin. Genomics 11: 1170-1171, 1991.
[0031544]22132.Fishman, G. A.; Stone, E. M.; Gilbert, L. D.; Kenna, P.; Sheffield, V. C.: Ocular findings associated with a rhodopsin gene codon 58 transversion mutation in autosomal dominant retinitis pigmentosa. Arch. Ophthal. 109: 1387-1393, 1991.
[0031545]22133.Fishman, G. A.; Stone, E. M.; Gilbert, L. D.; Sheffield, V. C. : Ocular findings associated with a rhodopsin gene codon 106 mutation: glycine-to-arginine change in autosomal dominant retinitis pigmentosa. Arch. Ophthal. 110: 646-653, 1992.
[0031546]22134.Fishman, G. A.; Vandenburgh, K.; Stone, E. M.; Gilbert, L. D.; Alexander, K. R.; Sheffield, V. C.: Ocular findings associated with rhodopsin gene codon 267 and codon 190 mutations in dominant retinitis pigmentosa. Arch. Ophthal. 110: 1582-1588, 1992.
[0031547]22135.Franke, R. R.; Konig, B.; Sakmar, T. P.; Khorana, H. G.; Hofmann, K. P.: Rhodopsin mutants that bind but fail to activate transducin. Science 250: 123-125, 1990.
[0031548]22136.Gal, A.; Artlich, A.; Ludwig, M.; Niemeyer, G.; Olek, K.; Schwinger, E.; Schinzel, A.: Pro347-to-arg mutation of the rhodopsin gene in autosomal dominant retinitis pigmentosa. Genomics 11: 468-470, 1991.
[0031549]22137.Gal, A.; Samanns, C.; Watty, A.; Jimenez, J.; Ludwig, M.; Chand, A.; Pongratz, J.; Colantuoni, V.; Gusseck, H.; Olsson, J.; Neugebauer, M.; Schinzel, A.; Denton, M.: A gene for autosomal dominant retinitis pigmentosa is closely linked to D3S20 on 3q. (Abstract) Retinitis Pigmentosa Meeting, Dublin July, 1990.
[0031550]22138.Hao, W.; Wenzel, A.; Obin, M. S.; Chen, C.-K.; Brill, E.; Krasnoperova, N. V.; Eversole-Cire, P.; Kleyner, Y.; Taylor, A.; Simon, M. I.; Grimm, C.; Reme, C. E.; Lem, J.: Evidence for two apoptotic pathways in light-induced retinal degeneration. Nature Genet. 32: 254-260, 2002.
[0031551]22139.Heckenlively, J. R.; Rodriguez, J. A.; Daiger, S. P.: Autosomal dominant sectoral retinitis pigmentosa: two families with transversion mutation in codon 23 of rhodopsin. Arch. Ophthal. 109: 84-91, 1991.
[0031552]22140.Humphries, M. M.; Rancourt, D.; Farrar, G. J.; Kenna, P.; Hazel, M.; Bush, R. A.; Sieving, P. A.; Sheils, D. M.; McNally, N.; Creighton, P.; Erven, A.; Boros, A.; Gulya, K.; Capecchi, M. R.; Humphries, P. : Retinopathy induced in mice by targeted disruption of the rhodopsin gene. Nature Genet. 15: 216-219, 1997.
[0031553]22141.Humphries, P.: Personal Communication. Dublin, Ireland 2/1990.
[0031554]22142.Humphries, P.; Farrar, G. J.; Kenna, P.; McWilliam, P.: Retinitis pigmentosa: genetic mapping in X-linked and autosomal forms of the disease. Clin. Genet. 38: 1-13, 1990.
[0031555]22143.Humphries, P.; Kenna, P.; Farrar, G. J.: On the molecular genetics of retinitis pigmentosa. Science 256: 804-808, 1992.
[0031556]22144.Whitmore, T. E.; Holloway, J. L.; Lofton-Day, C. E.; Maurer, M. F.; Chen, L.; Quinton, T. J.; Vincent, J. B.; Scherer, S. W.; Lok, S.: Human secretin (SCT): gene structure, chromosome location, and distribution of mRNA. Cytogenet. Cell Genet. 90: 47-52, 2000.
[0031557]22145.Domino, S. E.; Zhang, L.; Gillespie, P. J.; Saunders, T. L.; Lowe, J. B.: Deficiency of reproductive tract alpha(1,2)fucosylated glycans and normal fertility in mice with targeted deletions of the FUT1 or FUT2 alpha(1,2)fucosyltransferase locus. Molec. Cell. Biol. 21: 8336-8345, 2001.
[0031558]22146.Gedde-Dahl, T., Jr.; Olaisen, B.; Teisberg, P.; Wilhelmy, M. C.; Mevag, B.; Helland, R.: The locus for apolipoprotein E (apoE) is close to the Lutheran (Lu) blood group locus on chromosome 19. Hum. Genet. 67: 178-182, 1984.
[0031559]22147.Grubb, R.: Zur Genetik des Lewis-Systems. Naturwissenschaften 21: 560-561, 1953.
[0031560]22148.Le Pendu, J.; Lemieux, R. U.; Lambert, F.; Dalix, A.-M.; Oriol, R.: Distribution of H type 1 and H type 2 antigenic determinants in human sera and saliva. Am. J. Hum. Genet. 34: 402-415, 1982.
[0031561]22149.Oriol, R.; Danilovs, J.; Hawkins, B. R.: A new genetic model proposing that the Se gene is a structural gene closely linked to the H gene. Am. J. Hum. Genet. 33: 421-431, 1981.
[0031562]22150.Reguigne-Arnould, I.; Couillin, P.; Mollicone, R.; Faure, S.; Fletcher, A.; Kelly, R. J.; Lowe, J. B.; Oriol, R.: Relative positions of two clusters of human alpha-L-fucosyltransferases in 19q (FUT1-FUT2) and 19p (FUT6-FUT3-FUT5) within the microsatellite genetic map of chromosome 19. Cytogenet. Cell Genet. 71: 158-162, 1995.
[0031563]22151.Kolanus, W.; Nagel, W.; Schiller, B.; Zeitlmann, L.; Godar, S.; Stockinger, H.; Seed, B.: Alpha-L-beta-2 integrin/LFA-1 binding to ICAM-1 induced by cytohesin-1, a cytoplasmic regulatory molecule. Cell 86: 233-242, 1996.
[0031564]22152.Ogasawara, M.; Kim, S.-C.; Adamik, R.; Togawa, A.; Ferrans, V. J.; Takeda, K.; Kirby, M.; Moss, J.; Vaughan, M.: Similarities in function and gene structure of cytohesin-4 and cytohesin-1, guanine nucleotide-exchange proteins for ADP-ribosylation factors. J. Biol. Chem. 275: 3221-3230, 2000.
[0031565]22153.Findlay, D. M.; Fisher, L. W.; McQuillan, C. I.; Termine, J. D.; Young, M. F.: Isolation of the osteonectin gene: evidence that a variable region of the osteonectin molecule is encoded within one exon. Biochemistry 27: 1483-1489, 1988.
[0031566]22154.Gilmour, D. T.; Lyon, G. J.; Carlton, M. B. L.; Sanes, J. R.; Cunningham, J. M.; Anderson, J. R.; Hogan, B. L. M.; Evans, M. J.; Colledge, W. H.: Mice deficient for the secreted glycoprotein SPARC/osteonectin/BM40 develop normally but show severe age-onset cataract formation and disruption of the lens. EMBO J. 17: 1860-1870, 1998.
[0031567]22155.Sanyanusin, P.; McNoe, L. A.; Sullivan, M. J.; Weaver, R. G.; Eccles, M. R.: Mutation of PAX2 in two siblings with renal-coloboma syndrome. Hum. Molec. Genet. 4: 2183-2184, 1995.
[0031568]22156.Sanyanusin, P.; Norrish, J. H.; Ward, T. A.; Nebel, A.; McNoe, L. A.; Eccles, M. R.: Genomic structure of the human PAX2 gene. Genomics 35: 258-261, 1996.
[0031569]22157.Sanyanusin, P.; Schimmenti, L. A.; McNoe, L. A.; Ward, T. A.; Pierpont, M. E. M.; Sullivan, M. J.; Dobyns, W. B.; Eccles, M. R. : Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. Nature Genet. 9: 358-364, 1995.
[0031570]22158.Schimmenti, L. A.; Cunliffe, H. E.; McNoe, L. A.; Ward, T. A.; French, M. C.; Shim, H. H.; Zhang, Y.-H.; Proesmans, W.; Leys, A.; Byerly, K. A.; Braddock, S. R.; Masuno, M.; Imaizumi, K.; Devriendt, K.; Eccles, M. R.: Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations. Am. J. Hum. Genet. 60: 869-878, 1997.
[0031571]22159.Schimmenti, L. A.; Pierpont, M. E.; Carpenter, B. L. M.; Kashtan, C. E.; Johnson, M. R.; Dobyns, W. B.: Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies. Am. J. Med. Genet. 59: 204-208, 1995.
[0031572]22160.Schimmenti, L. A.; Shim, H. H.; Wirtschafter, J. D.; Panzarino, V. A.; Kashtan, C. E.; Kirkpatrick, S. J.; Wargowski, D. S.; France, T. D.; Michel, E.; Dobyns, W. B.: Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renalcoloboma syndrome. Hum. Mutat. 14: 369-376, 1999.
[0031573]22161.Stapleton, P.; Weith, A.; Urbanek, P.; Kozmik, Z.; Busslinger, M.: Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9. Nature Genet. 3: 292-298, 1993.
[0031574]22162.Tellier, A.-L.; Amiel, J.; Delezoide, A.-L.; Audollent, S.; Auge, J.; Esnault, D.; Encha-Razavi, F.; Munnich, A.; Lyonnet, S.; Vekemans, M.; Attie-Bitach, T.: Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome. Am. J. Med. Genet. 93: 85-88, 2000.
[0031575]22163.Tellier, A.-L.; Amiel, J.; Salomon, R.; Jolly, D.; Delezoide, A.-L.; Auge, J.; Gubler, M.-C.; Munnich, A.; Lyonnet, S.; Antignac, C.; Vekemans, M.; Broyer, M.; Attie-Bitach, T.: PAX2 expression during early human development and its mutations in renal hypoplasia with or without coloboma. (Abstract) Am. J. Hum. Genet. 63 (suppl.): A7 only, 1998.
[0031576]22164.Ward, T. A.; Nebel, A.; Reeve, A. E.; Eccles, M. R.: Alternative messenger RNA forms and open reading frames within an additional conserved region of the human PAX-2 gene. Cell Growth Differ. 5: 1015-1021, 1994.
[0031577]22165.Weaver, R. G.; Cashwell, L. F.; Lorentz, W.; Whiteman, D.; Geisinger, K. R.; Ball, M.: Optic nerve coloboma associated with renal disease. Am. J. Med. Genet. 29: 597-605, 1988.
[0031578]22166.Barr, F. G.; Nauta, L. E.; Davis, R. J.; Schafer, B. W.; Nycum, L. M.; Biegel, J. A.: In vivo amplification of the PAX3-FKHR and PAX7-FKHR fusion genes in alveolar rhabdomyosarcoma. Hum. Molec. Genet. 5: 15-21, 1996.
[0031579]22167.Burri, M.; Tromvoukis, Y.; Bopp, D.; Frigerio, G.; Noll, M.: Conservation of the paired domain in metazoans and its structure in three isolated human genes. EMBO J. 8: 1183-1190, 1989.
[0031580]22168.Gruss, P.; Walther, C.: Pax in development. Cell 69: 719-722, 1992.
[0031581]22169.Schafer, B. W.; Mattei, M. G.: The human paired domain gene PAX7 (Hup1) maps to chromosome 1p35-1p36.2. Genomics 17: 249-251, 1993.
[0031582]22170.Seale, P.; Sabourin, L. A.; Girgis-Gabardo, A.; Mansouri, A.; Gruss, P.; Rudnicki, M. A.: Pax7 is required for the specification of myogenic satellite cells. Cell 102: 777-786, 2000.
[0031583]22171.Shapiro, D. N.; Sublett, J. E.; Li, B.; Valentine, M. B.; Morris, S. W.; Noll, M.: The gene for PAX7, a member of the paired-box-containing genes, is localized on human chromosome arm 1p36. Genomics 17: 767-769, 1993.
[0031584]22172.Helwig, U.; Imai, K.; Schmahl, W.; Thomas, B. E.; Varnum, D. S.; Nadeau, J. H.; Balling, R.: Interaction between undulated and Patch leads to an extreme form of spina bifida in doublemutant mice. Nature Genet. 11: 60-63, 1995.
[0031585]22173.Sun, J.; Rose, J. B.; Bird, P.: Gene structure, chromosomal localization, and expression of the murine homologue of human proteinase inhibitor 6 (PI-6) suggests divergence of PI-6 from the ovalbumin serpins. J. Biol. Chem. 270: 16089-16096, 1995.
[0031586]22174.Cowley, C. M. E.; Simrak, D.; Spurr, N. K.; Arnemann, J.; Buxton, R. S.: The plakophilin 1 (PKP1) and plakoglobin (JUP) genes map to human chromosomes 1q and 17, respectively. Hum. Genet. 100: 486-488, 1997.
[0031587]22175.Guenet, J.-L.; Simon-Chazottes, D.; Ringwald, M.; Kemler, R.: The genes coding for alpha and beta catenin (Catna1 and Catnb) and plakoglobin (Jup) map to mouse chromosomes 18, 9, and 11, respectively. Mammalian Genome 6: 363-366, 1995.
[0031588]22176.Ruiz, P.; Brinkmann, V.; Ledermann, B.; Behrend, M.; Grund, C.; Thalhammer, C.; Vogel, F.; Birchmeier, C.; Gunthert, U.; Franke, W. W.; Birchmeier, W.: Targeted mutation of plakoglobin in mice reveals essential functions of desmosomes in the embryonic heart. J. Cell Biol. 135: 215-225, 1996.
[0031589]22177.Buckley, M. F.; Goding, J. W.: Plasma cell membrane glycoprotein gene Pca-1 (alkaline phosphodiesterase I) is linked to the proto-oncogene Myb on mouse chromosome 10. Immunogenetics 36: 199-201, 1992.
[0031590]22178.Buckley, M. F.; Loveland, K. A.; McKinstry, W. J.; Garson, O. M.; Goding, J. W.: Plasma cell membrane glycoprotein PC-1: cDNA cloning of the human molecule, amino acid sequence, and chromosomal location. J. Biol. Chem. 265: 17506-17511, 1990.
[0031591]22179.Frittitta, L.; Baratta, R.; Spampinato, D.; Di Paola, R.; Pizzuti, A.; Vigneri, R.; Trischitta, V.: The Q121 PC-1 variant and obesity have additive and independent effects in causing insulin resistance. J. Clin. Endocr. Metab. 86: 5888-5891, 2001.
[0031592]22180.Harahap, A. R.; Goding, J. W.: Distribution of the murine plasma cell antigen PC-1 in non-lymphoid tissues. J. Immun. 141: 2317-2320, 1988.
[0031593]22181.Huang, R.; Rosenbach, M.; Vaughn, R.; Provvedini, D.; Rebbe, N.; Hickman, S.; Goding, J.; Terkeltaub, R.: Expression of the murine plasma cell nucleotide pyrophosphohydrolase PC-1 is shared by human liver, bone, and cartilage cells: regulation of PC-1 expression in osteosarcoma cells by transforming growth factor-beta. J. Clin. Invest. 94: 560-567, 1994.
[0031594]22182.Kahn, C. R.: Causes of insulin resistance. Nature 373: 384-385, 1995.
[0031595]22183.Maddux, B. A.; Goldfine, I. D.: Membrane glycoprotein PC-1 inhibition of insulin receptor function occurs via direct interaction with the receptor alpha-subunit. Diabetes 49: 13-19, 2000.
[0031596]22184.Maddux, B. A.; Sbraccia, P.; Kumakura, S.; Sasson, S.; Youngren, J.; Fisher, A.; Spencer, S.; Grupe, A.; Henzel, W.; Stewart, T. A.; Reaven, G. M.; Goldfine, I. D.: Membrane glycoprotein PC-1 and insulin resistance in non-insulin-dependent diabetes mellitus. Nature 373: 448-451, 1995.
[0031597]22185.Nakamura, I.; Ikegawa, S.; Okawa, A.; Okuda, S.; Koshizuka, Y.; Kawaguchi, H.; Nakamura, K.; Koyama, T.; Goto, S.; Toguchida, J.; Matsushita, M.; Ochi, T.; Takaoka, K.; Nakamura, Y.: Association of the human NPPS gene with ossification of the posterior longitudinal ligament of the spine (OPLL). Hum. Genet. 104: 492-497, 1999.
[0031598]22186.Okawa, A.; Nakamura, I.; Goto, S.; Moriya, H.; Nakamura, Y.; Ikegawa, S.: Mutation in Npps in a mouse model of ossification of the posterior longitudinal ligament of the spine. Nature Genet. 19: 271-273, 1998.
[0031599]22187.Pizzuti, A.; Frittitta, L.; Argiolas, A.; Baratta, R.; Goldfine, I. D.; Bozzali, M.; Ercolino, T.; Scarlato, G.; Iacoviello, L.; Vigneri, R.; Tassi, V.; Trischitta, V.: A polymorphism (K121Q) of the human glycoprotein PC-1 gene coding region is strongly associated with insulin resistance. Diabetes 48: 1881-1884, 1999.
[0031600]22188.Rebbe, N. F.; Tong, B. D.; Finley, E. M.; Hickman, S.: Identification of nucleotide pyrophosphatase/alkaline phosphodiesterase I activity associated with the mouse plasma cell differentiation antigen PC-1. Proc. Nat. Acad. Sci. 88: 5192-5196, 1991.
[0031601]22189.Sakaguchi, A. Y.; Lalley, P. A.; Zabel, B. U.; Ellis, R. W.; Scolnick, E. M.; Naylor, S. L.: Chromosome assignments of four mouse cellular homologs of sarcoma and leukemia virus oncogenes. Proc. Nat. Acad. Sci. 81: 525-529, 1984.
[0031602]22190.Takahashi, T.; Old, L. J.; Boyse, E. A.: Surface alloantigens of plasma cells. J. Exp. Med. 131: 1325-1341, 1970.
[0031603]22191.van Driel, I. R.; Goding, J. W.: Plasma cell membrane glycoprotein PC-1: primary structure deduced from cDNA clones. J. Biol. Chem. 262: 4882-4887, 1987.
[0031604]22192.Frank, S. L.; Klisak, I.; Sparkes, R. S.; Lusis, A. J.: A gene homologous to plasminogen located on human chromosome 2q11-p11. Genomics 4: 449-451, 1989.
[0031605]22193.Hughes, A. E.; Ralston, S. H.; Marken, J.; Bell, C.; MacPherson, H.; Wallace, R. G. H.; van Hul, W.; Whyte, M. P.; Nakatsuka, K.; Hovy, L.; Anderson, D. M.: Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis. Nature Genet. 24: 45-48, 2000.
[0031606]22194.Hughes, A. E.; Shearman, A. M.; Weber, J. L.; Barr, R. J.; Wallace, R. G. H.; Osterberg, P. H.; Nevin, N. C.; Mollan, R. A. B.: Genetic linkage of familial expansile osteolysis to chromosome 18q. Hum. Molec. Genet. 3: 359-361, 1994.
[0031607]22195.Brandriff, B. F.; Gordon, L. A.; Tynan, K. T.; Olsen, A. S.; Mohrenweiser, H. W.; Fertitta, A.; Carrano, A. V.; Trask, B. J.: Order and genomic distances among members of the carcinoembryonic antigen (CEA) gene family determined by fluorescence in situ hybridization. Genomics 12: 773-779, 1992.
[0031608]22196.Teglund, S.; Olsen, A.; Khan, W. N.; Frangsmyr, L.; Hammarstrom, S.: The pregnancy-specific glycoprotein (PSG) gene cluster on human chromosome 19: fine structure of the 11 PSG genes and identification of 6 new genes forming a third subgroup within the carcinoembryonic antigen (CEA) family. Genomics 23: 669-684, 1994.
[0031609]22197.Thompson, J.; Koumari, R.; Wagner, K.; Barnert, S.; Schleussner, C.; Schrewe, H.; Zimmermann, W.; Muller, G.; Schempp, W.; Zaninetta, D.; Ammaturo, D.; Hardman, N.: The human pregnancy-specific glycoprotein genes are tightly linked on the long arm of chromosome 19 and are coordinately expressed. Biochem. Biophys. Res. Commun. 167: 848-859, 1990.
[0031610]22198.Olsen, A.; Teglund, S.; Nelson, D.; Gordon, L.; Copeland, A.; Georgescu, A.; Carrano, A.; Hammarstrom, S.: Gene organization of the pregnancy-specific glycoprotein region on human chromosome 19: assembly and analysis of a 700-kb cosmid contig spanning the region. Genomics 23: 659-668, 1994.
[0031611]22199.Thompson, J.; Zimmermann, W.; Osthus-Bugat, P.; Schleussner, C.; Eades-Perner, A.-M.; Barnert, S.; von Kleist, S.; Willcocks, T.; Craig, I.; Tynan, K.; Olsen, A.; Mohrenweiser, H.: Longrange chromosomal mapping of the carcinoembryonic antigen (CEA) gene family cluster. Genomics 12: 761-772, 1992.
[0031612]22200.Tynan, K.; Olsen, A.; Trask, B.; de Jong, P.; Thompson, J.; Zimmermann, W.; Carrano, A.; Mohrenweiser, H.: Assembly and analysis of cosmid contigs in the CEA-gene family region of human chromosome 19. Nucleic Acids Res. 20: 1629-1636, 1992.
[0031613]22201.Sheer, D.; Sheppard, D. M.; Le Beau, M.; Rowley, J. D.; San Roman, C.; Solomon, E.: Localization of the oncogene c-erbA1 immediately proximal to the acute promyelocytic leukaemia breakpoint on chromosome 17. Ann. Hum. Genet. 49: 167-171, 1985.
[0031614]22202.Yoshitake, H.; Rittling, S. R.; Denhardt, D. T.; Noda, M.: Osteopontin-deficient mice are resistant to ovariectomy-induced bone resorption. Proc. Nat. Acad. Sci. 96: 8156-8160, 1999.
[0031615]22203.Edelmann, W.; Zervas, M.; Costello, P.; Roback. L.; Fischer, I.; Hammarback, J. A.; Cowan, N.; Davies, P.; Wainer, B.; Kucherlapati, R.: Neuronal abnormalities in microtubule-associated protein 1B mutant mice. Proc. Nat. Acad. Sci. 93: 1270-1275, 1996.
[0031616]22204.Hammarback, J. A.; Obar, R. A.; Hughes, S. M.; Vallee, R. B.: MAP1B is encoded as a polyprotein that is processed to form a complex N-terminal microtubule-binding domain. Neuron 7: 129-139, 1991.
[0031617]22205.Lien, L. L.; Boyce, F. M.; Kleyn, P.; Brzustowicz, L. M.; Menninger, J.; Ward, D. C.; Gilliam, T. C.; Kunkel, L. M.: Mapping of human microtubule-associated protein 1B in proximity to the spinal muscular atrophy locus at 5q13. Proc. Nat. Acad. Sci. 88: 7873-7876, 1991.
[0031618]22206.Lien, L. L.; Feener, C. A.; Fischbach, N.; Kunkel, L. M.: Cloning of human microtubule-associated protein 1B and the identification of a related gene on chromosome 15. Genomics 22: 273-280, 1994.
[0031619]22207.Wirth, B.; Voosen, B.; Rohrig, D.; Knapp, M.; Piechaczek, B.; Rudnik-Schoneborn, S.; Zerres, K.: Fine mapping and narrowing of the genetic interval of the spinal muscular atrophy region by linkage studies. Genomics 15: 113-118, 1993.
[0031620]22208.Zhang, Y. Q.; Bailey, A. M.; Matthies, H. J. G.; Renden, R. B.; Smith, M. A.; Speese, S. D.; Rubin, G. M.; Broadie, K.: Drosophila fragile X-related gene regulates the MAP1B homolog Futsch to control synaptic structure and function. Cell 107: 591-603, 2001.
[0031621]22209.Garner, C. C.; Tucker, R. P.; Matus, A.: Selective localization of messenger RNA for cytoskeletal protein MAP2 in dendrites. Nature 336: 674-677, 1988.
[0031622]22210.Kalcheva, N.; Albala, J.; O'Guin, K.; Rubino, H.; Garner, C.; Shafit-Zagardo, B.: Genomic structure of human microtubule-associated protein 2 (MAP-2) and characterization of additional MAP-2 isoforms. Proc. Nat. Acad. Sci. 92: 10894-10898, 1995.
[0031623]22211.Kindler, S.; Garner, C. C.: Four repeat MAP2 isoforms in human and rat brain. Molec. Brain Res. 26: 218-224, 1994.
[0031624]22212.Marsden, K. M.; Doll, T.; Ferralli, J.; Botteri, F.; Matus, A. : Transgenic expression of embryonic MAP2 in adult mouse brain: implications for neuronal polarization. J. Neurosci. 16: 3265-3273, 1996.
[0031625]22213.Neve, R. L.; Harris, P.; Kosik, K. S.; Kurnit, D. M.; Donlon, T. A.: Identification of cDNA clones for the human microtubule-associated protein tau and chromosomal localization of the genes for tau and microtubule-associated protein 2. Molec. Brain Res. 1: 271-280, 1986.
[0031626]22214.Chapin, S. J.; Bulinski, J. C.: Non-neuronal 210 x 10(3) M(r) microtubule-associated protein (MAP4) contains a domain homologous to the microtubule-binding domains of neuronal MAP2 and tau. J. Cell Sci. 98: 27-36, 1991.
[0031627]22215.Adriaansen, H. J.; Geurts Van Kessel, A. H. M.; Wijdenes-De Bresser, J. H. F. M.; Van Drunen-Schoenmaker, E.; Van Dongen, J. J. M.: Expression of the myeloid differentiation antigen CD33 depends on the presence of human chromosome 19 in human-mouse hybrids. Ann. Hum. Genet. 54: 115-119, 1990.
[0031628]22216.Bonthron, D. T.; Dunlop, N.; Barr, D. G. D.; El Sanousi, A. A.; Al-Gazali, L. I.: Organisation of the human PAX4 gene and its exclusion as a candidate for the Wolcott-Rallison syndrome. J. Med. Genet. 35: 288-292, 1998.
[0031629]22217.Inoue, H.; Nomiyama, J.; Nakai, K.; Matsutani, A.; Tanizawa, Y.; Oka, Y.: Isolation of full-length cDNA of mouse PAX4 gene and identification of its human homologue. Biochem. Biophys. Res. Commun. 243: 628-633, 1998.
[0031630]22218.Mansouri, A.; St-Onge, L.; Gruss, P.: Role of Pax genes in endoderm-derived organs. Trends Endocr. Metab. 10: 164-167, 1999.
[0031631]22219.Matsushita, T.; Yamaoka, T.; Otsuka, S.; Moritani, M.; Matsumoto, T.; Itakura, M.: Molecular cloning of mouse paired-box-containing gene (Pax)-4 from an islet beta cell line and deduced sequence of human Pax-4. Biochem. Biophys. Res. Commun. 242: 176-180, 1998.
[0031632]22220.Sosa-Pineda, B.; Chowdhury, K.; Torres, M.; Oliver, G.; Gruss, P.: The Pax4 gene is essential for differentiation of insulin-producing beta cells in the mammalian pancreas. Nature 386: 399-402, 1997.
[0031633]22221.St-Onge, L.; Sosa-Pineda, B.; Chowdhury, K.; Mansouri, A.; Gruss, P.: Pax6 is required for differentiation of glucagon-producing alpha-cells in mouse pancreas. Nature 387: 406-409, 1997.
[0031634]22222.Tamura, T.; Izumikawa, Y.; Kishino, T.; Soejima, H.; Jinno, Y.; Niikawa, N.: Assignment of the human PAX4 gene to chromosome band 7q32 by fluorescence in situ hybridization. Cytogenet. Cell Genet. 66: 132-134, 1994.
[0031635]22223.Adams, B.; Dorfler, P.; Aguzzi, A.; Kozmik, Z.; Urbanek, P.; Maurer-Fogy, I.; Busslinger, M.: Pax-5 encodes the transcription factor BSAP and is expressed in B lymphocytes, the developing CNS, and adult testis. Genes Dev. 6: 1589-1607, 1992.
[0031636]22224.Busslinger, M.; Klix, N.; Pfeffer, P.; Graninger, P. G.; Kozmik, Z.: Deregulation of PAX-5 by translocation of the E-mu enhancer of the IgH locus adjacent to two alternative PAX-5 promoters in a diffuse large-cell lymphoma. Proc. Nat. Acad. Sci. 93: 6129-6134, 1996.
[0031637]22225.Mikkola, I.; Heavey, B.; Horcher, M.; Busslinger, M.: Reversion of B cell commitment upon loss of Pax5 expression. Science 297: 110-113, 2002.
[0031638]22226.Nutt, S. L.; Heavey, B.; Rolink, A. G.; Busslinger, M.: Commitment to the B-lymphoid lineage depends on the transcription factor Pax5. Nature 401: 556-562, 1999.
[0031639]22227.Nutt, S. L.; Vambrie, S.; Steinlein, P.; Kozmik, Z.; Rolink, A.; Weith, A.; Busslinger, M.: Independent regulation of the two Pax5 alleles during B-cell development. Nature Genet. 21: 390-395, 1999.
[0031640]22228.Ohno, H.; Furukawa, T.; Fukuhara, S.; Zong, S. Q.; Kamesaki, H.; Shows, T. B.; Le Beau, M. M.; McKeithan, T. W.; Kawakami, T.; Honjo, T.: Molecular analysis of a chromosomal translocation, t(9;14)(p13;q32), in a diffuse large-cell lymphoma cell line expressing the Ki-1 antigen. Proc. Nat. Acad. Sci. 87: 628-632, 1990.
[0031641]22229.Rolink, A. G.; Nutt, S. L.; Melchers, F.; Busslinger, M.: Long-term in vivo reconstitution of T-cell development by Pax5-deficient B-cell progenitors. Nature 401: 603-606, 1999.
[0031642]22230.Vorechovsky, I.; Koskinen, S.; Paganelli, R.; Smith, C. I. E.; Busslinger, M.; Hammarstrom, L.: The PAX5 gene: a linkage and mutation analysis in candidate human primary immunodeficiencies. Immunogenetics 42: 149-152, 1995.
[0031643]22231.Walther, C.; Guenet, J.-L.; Simon, D.; Deutsch, U.; Jostes, B.; Goulding, M. D.; Plachov, D.; Balling, R.; Gruss, P.: Pax: a murine multigene family of paired box containing genes. Genomics 11: 424-434, 1991.
[0031644]22232.Koseki, H.; Zachgo, J.; Mizutani, Y.; Simon-Chazottes, D.; Guenet, J.-L.; Balling, R.; Gossler, A.: Fine genetic mapping of the proximal part of mouse chromosome 2 excludes Pax-8 as a candidate gene for Danforth's short tail (Sd). Mammalian Genome 4: 324-327, 1993.
[0031645]22233.Kroll, T. G.; Sarraf, P.; Pecciarini, L.; Chen, C.-J.; Mueller, E.; Splegelman, B. M.; Fletcher, J. A.: PAX8-PPAR-gamma-1 fusion in oncogene human thyroid carcinoma. Science 289: 1357-1360, 2000.
[0031646]22234.Macchia, P. E.; Lapi, P.; Krude, H.; Pirro, M. T.; Missero, C.; Chiovato, L.; Souabni, A.; Baserga, M.; Tassi, V.; Pinchera, A.; Fenzi, G.; Gruters, A.; Busslinger, M.; Di Lauro, R.: PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. Nature Genet. 19: 83-86, 1998.
[0031647]22235.Mansouri, A.; Chowdhury, K.; Gruss, P.: Follicular cells of the thyroid gland require Pax8 gene function. Nature Genet. 19: 87-90, 1998.
[0031648]22236.Pasca di Magliano, M.; Di Lauro, R.; Zannini, M.: Pax8 has a key role in thyroid cell differentiation. Proc. Nat. Acad. Sci. 97: 13144-13149, 2000.
[0031649]22237.Plachov, D.; Chowdhury, K.; Walther, C.; Simon, D.; Guenet, J.-L.; Gruss, P.: Pax-8, a murine paired box gene expressed in the developing excretory system and thyroid gland. Development 110: 643-651, 1990.
[0031650]22238.Tell, G.; Pellizzari, L.; Esposito, G.; Pucillo, C.; Macchia, P. E.; Di Lauro, R.; Damante, G.: Structural defects of a Pax8 mutant that give rise to congenital hypothyroidism. Biochem. J. 341: 89-93, 1999.
[0031651]22239.Bongarzone, I.; Vigano, E.; Alberti, L.; Borrello, M. G.; Pasini, B.; Greco, A.; Mondellini, P.; Smith, D. P.; Ponder, B. A. J.; Romeo, G.; Pierotti, M. A.: Full activation of MEN2B mutant RET by an additional MEN2A mutation or by ligand GDNF stimulation. Oncogene 16: 2295-2301, 1998.
[0031652]22240.Carlson, K. M.; Bracamontes, J.; Jackson, C. E.; Clark, R.; Lacroix, A.; Wells, S. A., Jr.; Goodfellow, P. J.: Parent-of-origin effects in multiple endocrine neoplasia type 2B. Am. J. Hum. Genet. 55: 1076-1082, 1994.
[0031653]22241.Carlson, K. M.; Dou, S.; Chi, D.; Scavarda, N.; Toshima, K.; Jackson, C. E.; Wells, S. A., Jr.; Goodfellow, P. J.; Donis-Keller, H.: Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B. Proc. Nat. Acad. Sci. 91: 1579-1583, 1994.
[0031654]22242.Mulligan, L. M.; Eng, C.; Healey, C. S.; Clayton, D.; Kwok, J. B. J.; Gardner, E.; Ponder, M. A.; Frilling, A.; Jackson, C. E.; Lehnert, H.; Neumann, H. P. H.; Thibodeau, S. N.; Ponder, B. A. J.: Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nature Genet. 6: 70-74, 1994.
[0031655]22243.Tartaglia, M.; Mehler, E. L.; Goldberg, R.; Zampino, G.; Brunner, H. G.; Kremer, H.; van der Burgt, I.; Crosby, A. H.; Ion, A.; Jeffery, S.; Kalidas, K.; Patton, M. A.; Kucherlapati, R. S.; Gelb, B. D.: Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nature Genet. 29: 465-468, 2001. Note: Errata: Nature Genet. 29: 491 only, 2001; Nature Genet. 30: 123 only, 2002.
[0031656]22244.Bruss, M.; Kunz, J.; Lingen, B.; Bonisch, H.: Chromosomal mapping of the human gene for the tricyclic antidepressant-sensitive noradrenaline transporter. Hum. Genet. 91: 278-280, 1993.
[0031657]22245.Esler, M.; Jennings, G.; Lambert, G.; Meredith, I.; Horne, M.; Eisenhofer, G.: Overflow of catecholamine neurotransmitters to the circulation: source, fate, and functions. Physiol. Rev. 70: 963-985, 1990.
[0031658]22246.Fritz, J. D.; Jayanthi, L. D.; Thoreson, M. A.; Blakely, R. D. : Cloning and chromosomal mapping of the murine norepinephrine transporter. J. Neurochem. 70: 2241-2251, 1998.
[0031659]22247.Gelernter, J.; Kruger, S.; Kidd, K. K.; Amara, S.: TaqI RFLP at norepinephrine transporter protein (NET) locus. Hum. Molec. Genet. 2: 820 only, 1993.
[0031660]22248.Gelernter, J.; Kruger, S.; Pakstis, A. J.; Pacholczyk, T.; Sparkes, R. S.; Kidd, K. K.; Amara, S.: Assignment of the norepinephrine transporter protein (NET1) locus to chromosome 16. Genomics 18: 690-692, 1993.
[0031661]22249.Kaye, W. H.; Jimerson, D. C.; Lake, C. R.; Ebert, M. H.: Altered norepinephrine metabolism following long-term weight recovery in patients with anorexia nervosa. Psychiat. Res. 14: 333-342, 1985.
[0031662]22250.Pacholczyk, T.; Blakely, R. D.; Amara, S. G.: Expression cloning of a cocaine- and antidepressant-sensitive human noradrenaline transporter. Nature 350: 350-354, 1991.
[0031663]22251.Paczkowski, F. A.; Bonisch, H.; Bryan-Lluka, L. J.: Pharmacological properties of the naturally occurring ala457pro variant of the human norepinephrine transporter. Pharmacogenetics 12: 165-173, 2002.
[0031664]22252.Pirke, K. M.; Kellner, M.; Philipp, E.; Laessle, R.; Krieg, J. C.; Fichter, M. M.: Plasma norepinephrine after a standardized test meal in acute and remitted patients with anorexia nervosa and in healthy controls. Biol. Psychiat. 31: 1074-1077, 1992.
[0031665]22253.Porzgen, P.; Bonisch, H.; Bruss, M.: Molecular cloning and organization of the coding region of the human norepinephrine transporter gene. Biochem. Biophys. Res. Commun. 215: 1145-1150, 1995. Notes: Erratum: Biochem. Biophys. Res. Commun. 227: 642-643, 1996.
[0031666]22254.Shannon, J. R.; Flattem, N. L.; Jordan, J.; Jacob, G.; Black, B. K.; Biaggioni, I.; Blakely, R. D.; Robertson, D.: Orthostatic intolerance and tachycardia associated with norepinephrinetransporter deficiency. New Eng. J. Med. 342: 541-549, 2000.
[0031667]22255.Urwin, R. E.; Bennetts, B.; Wilcken, B.; Lampropoulos, B.; Beumont, P.; Clarke, S.; Russell, J.; Tanner, S.; Nunn, K. P.: Anorexia nervosa (restrictive subtype) is associated with a polymorphism in the novel norepinephrine transporter gene promoter polymorphic region. Molec. Psychiat. 7: 652-657, 2002.
[0031668]22256.Tomilin, A.; Remenyi, A.; Lins, K.; Bak, H.; Leidel, S.; Vriend, G.; Wilmanns, M.; Scholer, H. R.: Synergism with the coactivator OBF-1 (OCA-B, BOB-1) is mediated by a specific POU dimer configuration. Cell 103: 853-864, 2000.
[0031669]22257.Ko, H.-S.; Fast, P.; McBride, W.; Staudt, L. M.: A human protein specific for the immunoglobulin octamer DNA motif contains a functional homeobox domain. Cell 55: 135-144, 1988.
[0031670]22258.Schubart, K.; Massa, S.; Schubart, D.; Corcoran, L. M.; Rolink, A. G.; Matthias, P.: B cell development and immunoglobulin gene transcription in the absence of Oct-2 and OBF-1. Nature Immun. 2: 69-74, 2001.
[0031671]22259.Staudt, L. M.; Clerc, R. G.; Singh, H.; LeBowitz, J. H.; Sharp, P. A.; Baltimore, D.: Cloning of a lymphoid-specific cDNA encoding a protein binding the regulatory octamer DNA motif. Science 241: 577-580, 1988.
[0031672]22260.Parker, R. C.; Mardon, G.; Lebo, R. V.; Varmus, H. E.; Bishop, J. M.: Isolation of duplicated human c-src genes located on chromosomes 1 and 20. Molec. Cell. Biol. 5: 831-838, 1985.
[0031673]22261.Tronick, S. R.; Popescu, N. C.; Cheah, M. S. C.; Swan, D. C.; Amsbaugh, S. C.; Lengel, C. R.; DiPaolo, J. A.; Robbins, K. C.: Isolation and chromosomal localization of the human fgr protooncogene, a distinct member of the tyrosine kinase gene family. Proc. Nat. Acad. Sci. 82: 6595-6599, 1985.
[0031674]22262.Bork, P.: The modular architecture of a new family of growth regulators related to connective tissue growth factor. FEBS Lett. 327: 125-130, 1993.
[0031675]22263.Sugaya, K.; Fukagawa, T.; Matsumoto, K.; Mita, K.; Takahashi, E.; Ando, A.; Inoko, H.; Ikemura, T.: Three genes in the human MHC class III region near the junction with the class II: gene for receptor of advanced glycosylation end products, PBX2 homeobox gene and a Notch homolog, human counterpart of mouse mammary tumor gene int-3. Genomics 23: 408-419, 1994.
[0031676]22264.Joliot, V.; Martinerie, C.; Dambrine, G.; Plassiart, G.; Brisac, M.; Crochet, J.; Perbal, B.: Proviral rearrangements and overexpression of a new cellular gene (nov) in myeloblastosis-associated virus type 1-induced nephroblastomas. Molec. Cell. Biol. 12: 10-21, 1992.
[0031677]22265.Kim, H.-S.; Nagalla, S. R.; Oh, Y.; Wilson, E.; Roberts, C. T., Jr.; Rosenfeld, R. G.: Identification of a family of low-affinity insulin-like growth factor binding proteins (IFGBPs): characterization of connective tissue growth factor as a member of the IGFBP superfamily. Proc. Nat. Acad. Sci. 94: 12981-12986, 1997.
[0031678]22266.Martinerie, C.; Perbal, B.: Expression of a gene encoding a novel potential IGF binding protein in human tissues. C. R. Acad. Sci. (Paris) 313 (ser. 3): 345-351, 1991.
[0031679]22267.Snaith, M. R.; Natarajan, D.; Taylor, L. B.; Choi, C.-P.; Martinerie, C.; Perbal, B.; Schofield, P. N.; Boulter, C. A.: Genomic structure and chromosomal mapping of the mouse nov gene. Genomics 38: 425-428, 1996.
[0031680]22268.Soret, J.; Dambrine, G.; Perbal, B.: Induction of nephroblastoma by myeloblastosisassociated virus type 1: state of proviral DNAs in tumor cells. J. Virol. 63: 1803-1807, 1989.
[0031681]22269.Amson, R.; Sigaux, F.; Przedborski, S.; Flandrin, G.; Givol, D.; Telerman, A.: The human protooncogene product p33pim is expressed during fetal hematopoiesis and in diverse leukemias. Proc. Nat. Acad. Sci. 86: 8857-8861, 1989.
[0031682]22270.Ark, B.; Gummere, G.; Bennett, D.; Artzt, K.: Mapping of the Pim-1 oncogene in mouse t-haplotypes and its use to define the relative map positions of the tcl loci t-0(t-6) and t-w12 and the marker tf (tufted). Genomics 10: 385-389, 1991.
[0031683]22271.Cuypers, H. T.; Selten, G.; Berns, A.; Geurts van Kessel, A. H. M.: Assignment of the human homologue of Pim-1, a mouse gene implicated in leukemogenesis, to the pter-q12 region of chromosome 6. Hum. Genet. 72: 262-265, 1986.
[0031684]22272.Domen, J.; von Lindern, M.; Hermans, A.; Breuer, M.; Grosveld, G.; Berns, A.: Comparison of the human and mouse PIM-1 cDNAs: nucleotide sequence and immunological identification of the in vitro synthesized PIM-1 protein. Oncogene Res. 1: 103-112, 1987.
[0031685]22273.Dunger, D. B.; Davies, K. E.; Pembrey, M.; Lake, B.; Pearson, P.; Williams, D.; Whitfield, A.; Dillon, M. J. D.: Deletion on the X chromosome detected by direct DNA analysis in one of two unrelated boys with glycerol kinase deficiency, adrenal hypoplasia, and Duchenne muscular dystrophy. Lancet I: 585-587, 1986.
[0031686]22274.Eriksson, A.; Lindstedt, S.; Ransnas, L.; von Wendt, L.: Deficiency of glycerol kinase (EC 2.7.1.30). Clin. Chem. 29: 718-722, 1983.
[0031687]22275.Francke, U.; Harper, J. F.; Darras, B. T.; Cowan, J. M.; McCabe, E. R. B.; Kohlschutter, A.; Seltzer, W. K.; Saito, F.; Goto, J.; Harpey, J.-P.; Wise, J. E.: Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions. Am. J. Hum. Genet. 40: 212-227, 1987.
[0031688]22276.Gaudet, D.; Arsenault, S.; Perusse, L.; Vohl, M.-C.; St.-Pierre, J.; Bergeron, J.; Despres, J.-P.; Dewar, K.; Daly, M. J.; Hudson, T.; Rioux, J. D.: Glycerol as a correlate of impaired glucose tolerance: dissection of a complex system by use of a simple genetic trait. Am. J. Hum. Genet. 66: 1558-1568, 2000.
[0031689]22277.Ginns, E. I.; Barranger, J. A.; McClean, S. W.; Sliva, C.; Young, R.; Schaefer, I.; Goodman, S. I.; McCabe, E. R. B.: A juvenile form of glycerol kinase deficiency with episodic vomiting, acidemia, and stupor. J. Pediat. 104: 736-739, 1984.
[0031690]22278.Goonewardena, P.; Dahl, N.; Ritzen, M.; Johnsen, E.; Pettersson, U.: Deletion in Xp associated with glycerol kinase deficiency, adrenal aplasia and hypogonadotropic hypogonadism. (Abstract) Cytogenet. Cell Genet. 46: 621 only, 1987.
[0031691]22279.Goussault, Y.; Turpin, E.; Neel, D.; Dreux, C.; Chanu, B.; Bakir, R.; Rouffy, J.: 'Pseudohypertriglyceridemia' caused by hyperglycerolemia due to congenital enzyme deficiency. Clin. Chim. Acta 123: 269-274, 1982.
[0031692]22280.Grier, R. E.; Howell, R. R.; Wu, D.; McCabe, E. R. B.: Isolated glycerol kinase deficiency: nutritional and molecular genetic studies. (Abstract) Am. J. Hum. Genet. 45 (suppl.): A6 only, 1989.
[0031693]22281.Guggenheim, M. A.; McCabe, E. R. B.; Roig, M.; Goodman, S. I.; Lum, G. M.; Bullen, W. W.; Ringel, S. P.: Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities. Ann. Neurol. 7: 441-449, 1980.
[0031694]22282.Guo, W.; Worley, K.; Adams, V.; Mason, J.; Sylvester-Jackson, D.; Zhang, Y.-H.; Towbin, J. A.; Fogt, D. D.; Madu, S.; Wheeler, D. A.; McCabe, E. R. B.: Genomic scanning for expressed sequences in Xp21 identifies the glycerol kinase gene. Nature Genet. 4: 367-371, 1993.
[0031695]22283.Hammond, J.; Howard, N. J.; Brookwell, R.; Purvis-Smith, S.; Wilcken, B.; Hoogenraad, N.: Proposed assignment of loci for X-linked adrenal hypoplasia and glycerol kinase genes. (Letter) Lancet I: 54 only, 1985.
[0031696]22284.Love, D. R.; Bloomfield, J. F.; Kenwrick, S. J.; Yates, J. R. W.; Davies, K. E.: Physical mapping distal to the DMD locus. Genomics 8: 106-112, 1990.
[0031697]22285.Mahbubul Huq, A. H. M.; Lovell, R. S.; Ou, C.-N.; Beaudet, A. L.; Craigen, W. J.: Xlinked glycerol kinase deficiency in the mouse leads to growth retardation, altered fat metabolism, autonomous glucocorticoid secretion and neonatal death. Hum. Molec. Genet. 6: 1803-1809, 1997.
[0031698]22286.Mahbubul Huq, A. H. M.; Lovell, R. S.; Sampson, M. J.; Decker, W. K.; Dinulos, M. B.; Disteche, C. M.; Craigen, W. J.: Isolation, mapping, and functional expression of the mouse X chromosome glycerol kinase gene. Genomics 36: 530-534, 1996.
[0031699]22287.Nishimura, J.; Murakami, Y.; Kinoshita, T.: Paroxysmal nocturnal hemoglobinuria: an acquired genetic disease. Am. J. Hemat. 62: 175-182, 1999.
[0031700]22288.Kosho, T.; Muroya, K.; Nagai, T.; Fujimoto, M.; Yokoya, S.; Sakamoto, H.; Hirano, T.; Terasaki, H.; Ohashi, H.; Nishimura, G.; Sato, S.; Matsuo, N.; Ogata, T.: Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome. J. Clin. Endocr. Metab. 84: 4613-4621, 1999.
[0031701]22289.Kuznetzova, T.; Baranov, A.; Ivaschenko, T.; Savitsky, G. A.; Lanceva, O. E.; Wang, M. R.; Giollant, M.; Malet, P.; Kascheeva, T.; Vakharlovsky, V.; Baranov, V. S.: X;Y translocation in a girl with short stature and some features of Turner's syndrome: cytogenetic and molecular studies. J. Med. Genet. 31: 649-651, 1994.
[0031702]22290.May, C. A.; Shone, A. C.; Kalaydjieva, L.; Sajantila, A.; Jeffreys, A. J.: Crossover clustering and rapid decay of linkage disequilibrium in the Xp/Yp pseudoautosomal gene SHOX. Nature Genet. 31: 272-275, 2002.
[0031703]22291.Ogata, T.; Goodfellow, P.; Petit, C.; Aya, M.; Matsuo, N.: Short stature in a girl with a terminal Xp deletion distal to DXYS15: localisation of a growth gene(s) in the pseudoautosomal region. J. Med. Genet. 29: 455-459, 1992.
[0031704]22292.Ogata, T.; Kosho, T.; Wakui, K.; Fukushima, Y.; Yoshimoto, M.; Miharu, N.: Short stature homeobox-containing gene duplication on the der(X) chromosome in a female with 45,X/46,X, der(X), gonadal dysgenesis, and tall stature. J. Clin. Endocr. Metab. 85: 2927-2930, 2000.
[0031705]22293.Ogata, T.; Matsuo, N.; Nishimura, G.: SHOX haploinsufficiency and overdosage: impact of gonadal function status. J. Med. Genet. 38: 1-6, 2001.
[0031706]22294.Ogata, T.; Muroya, K.; Sasaki, G.; Nishimura, G.; Kitoh, H.; Hattori, T.: SHOX nullizygosity and haploinsufficiency in a Japanese family: implication for the development of Turner skeletal features. J. Clin. Endocr. Metab. 87: 1390-1394, 2002.
[0031707]22295.Ogata, T.; Petit, C.; Rappold, G.; Matsuo, N.; Matsumoto, T.; Goodfellow, P.: Chromosomal localisation of a pseudoautosomal growth gene(s). J. Med. Genet. 29: 624-628, 1992.
[0031708]22296.Ogata, T.; Yoshizawa, A.; Muroya, K.; Matsuo, N.; Fukushima, Y.; Rappold, G.; Yokoya, S.: Short stature in a girl with partial monosomy of the pseudoautosomal region distal to DXYS15: further evidence for the assignment of the critical region for a pseudoautosomal growth gene(s). J. Med. Genet. 32: 831-834, 1995.
[0031709]22297.Pfeiffer, R. A.: Observations in a case of an X/Y translocation, t(X;Y)(p22;q11), in a mother and son. Cytogenet. Cell Genet. 26: 150-157, 1980.
[0031710]22298.Rao, E.; Blaschke, R. J.; Marchini, A.; Niesler, B.; Burnett, M.; Rappold, G. A.: The Leri-Weill and Turner syndrome homeobox gene SHOX encodes a cell-type specific transcriptional activator. Hum. Molec. Genet. 10: 3083-3091, 2001.
[0031711]22299.Rao, E.; Weiss, B.; Fukami, M.; Mertz, A.; Meder, J.; Ogata, T.; Heinrich, U.; Garcia-Heras, J.; Schiebel, K.; Rappold, G. A.: FISH-deletion mapping defines a 270-kb short stature critical interval in the pseudoautosomal region PAR1 on human sex chromosomes. Hum. Genet. 100: 236-239, 1997.
[0031712]22300.Rao, E.; Weiss, B.; Fukami, M.; Rump, A.; Niesler, B.; Mertz, A.; Muroya, K.; Binder, G.; Kirsch, S.; Winkelmann, M.; Nordsiek, G.; Heinrich, U.; Breuning, M. H.; Ranke, M. B.; Rosenthal, A.; Ogata, T.; Rappold, G. A.: Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nature Genet. 16: 54-63, 1997.
[0031713]22301.Rappold, G. A.; Fukami, M.; Niesler, B.; Schiller, S.; Zumkeller, W.; Bettendorf, M.; Heinrich, U.; Vlachopapadoupoulou, E.; Reinehr, T.; Onigata, K.; Ogata, T.: Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature. J. Clin. Endocr. Metab. 87: 1402-1406, 2002.
[0031714]22302.Schiller, S.; Spranger, S.; Schechinger, B.; Fukami, M.; Merker, S.; Drop, S. L. S.; Troger, J.; Knoblauch, H.; Kunze, J.; Seidel, J.; Rappold, G. A.: Phenotypic variation and genetic heterogeneity in Leri-Weill syndrome. Europ. J. Hum. Genet. 8: 54-62, 2000.
[0031715]22303.Shears, D. J.; Guillen-Navarro, E.; Sempere-Miralles, M.; Domingo-Jimenez, R.; Scambler, P. J.; Winter, R. M.: Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation. Am. J. Med. Genet. 110: 153-157, 2002.
[0031716]22304.Zinn, A. R.; Wei, F.; Zhang, L.; Elder, F. F.; Scott, C. I., Jr.; Marttila, P.; Ross, J. L.: Complete SHOX deficiency causes Langer mesomelic dysplasia. Am. J. Med. Genet. 110: 158-163, 2002.
[0031717]22305.Zuffardi, O.; Maraschio, P.; Lo Curto, F.; Muller, U.; Giarola, A.; Perotti, L.: The role of Yp in sex determination: new evidence from X/Y translocations. Am. J. Med. Genet. 12: 175-184, 1982.
[0031718]22306.Acker, K. J.; Roels, H.; Beelaerts, W.; Pasternack, A.; Valcke, R.: The histologic lesions of the kidney in the oculo-cerebro-renal syndrome of Lowe. Nephron 4: 193-214, 1967.
[0031719]22307.Attree, O.; Olivos, I. M.; Okabe, I.; Bailey, L. C.; Nelson, D. L.; Lewis, R. A.; McInnes, R. R.; Nussbaum, R. L.: The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. Nature 358: 239-242, 1992.
[0031720]22308.Auricchio, S.; Frischknecht, W.; Shmerling, D. H.: Primare Tubulopathien. III. Ein Fall von oculo-cerebro-renalem Syndrom (Lowe-Syndrome). Helv. Paediat. Acta 16: 647-655, 1961.
[0031721]22309.Bailey, L. C., Jr.; Olivos, I. M.; Leahey, A. M.; Attree, O. F.; Okabe, I.; Lewis, R. A.; MacInnes, R. R.; Spinner, N. B.; Nelson, D. L.; Nussbaum, R. L.: Characterization of a candidate gene for OCRL. (Abstract) Am. J. Hum. Genet. 51 (suppl.): A4 only, 1992.
[0031722]22310.Charnas, L. R.; Bernardini, I.; Rader, D.; Hoeg, J. M.; Gahl, W. A.: Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function. New Eng. J. Med. 324: 1318-1325, 1991.
[0031723]22311.Chutorian, A.; Rowland, L. P.: Lowe's syndrome. Neurology 16: 115-122, 1966.
[0031724]22312.Delleman, J. W.; Bleeker-Wagemakers, E. M.; van Veelen, A. W. C. : Opacities of the lens indicating carrier status in the oculo-cerebro-renal (Lowe) syndrome. J. Pediat. Ophthal. 14: 205-212, 1977.
[0031725]22313.Duden, R.; Griffiths, G.; Frank, R.; Argos, P.; Kreis, T. E.: Beta-COP, a 110 kd protein associated with non-clathrin-coated vesicles and the Golgi complex, shows homology to beta-adaptin. Cell 64: 649-665, 1991.
[0031726]22314.Gardner, R. J. M.; Brown, N.: Lowe's syndrome: identification of carriers by lens examination. J. Med. Genet. 13: 449-464, 1976.
[0031727]22315.Gropman, A.; Levin, S.; Yao, L.; Lin, T.; Suchy, S.; Sabnis, S.; Hadley, D.; Nussbaum, R.: Unusual renal features of Lowe syndrome in a mildly affected boy. Am. J. Med. Genet. 95: 461-466, 2000.
[0031728]22316.Harris, L. S.; Gitter, K. A.; Galin, M. A.; Plechaty, G. P.: Oculo-cerebro-renal syndrome: report of a case in a baby girl. Brit. J. Ophthal. 54: 278-280, 1970.
[0031729]22317.Hittner, H. M.; Carroll, A. J.; Prchal, J. T.: Linkage studies in carriers of Lowe oculocerebro-renal syndrome. Am. J. Hum. Genet. 34: 966-971, 1982.
[0031730]22318.Hodgson, S. V.; Heckmatt, J. Z.; Hughes, E.; Crolla, J. A.; Dubowitz, V.; Bobrow, M.: A balanced de novo X/autosome translocation in a girl with manifestations of Lowe syndrome. Am. J. Med. Genet. 23: 837-847, 1986.
[0031731]22319.Kawano, T.; Indo, Y.; Nakazato, H.; Shimadzu, M.; Matsuda, I. : Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes. Am. J. Med. Genet. 77: 348-355, 1998.
[0031732]22320.Kenworthy, L.; Charnas, L.: Evidence for a discrete behavioral phenotype in the oculocerebrorenal syndrome of Lowe. Am. J. Med. Genet. 59: 283-290, 1995.
[0031733]22321.Kenworthy, L.; Park, T.; Charnas, L. R.: Cognitive and behavioral profile of the oculocerebrorenal syndrome of Lowe. Am. J. Med. Genet. 46: 297-303, 1993.
[0031734]22322.Leahey, A.-M.; Charnas, L. R.; Nussbaum, R. L.: Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe. Hum. Molec. Genet. 2: 461-463, 1993.
[0031735]22323.Leahey, A. M.; Olivos, I. M.; Bailey, L. C.; Nussbaum, R. L.: Characterization of the molecular defects in Lowe's syndrome. (Abstract) Am. J. Hum. Genet. 51 (suppl.): A220 only, 1992.
[0031736]22324.Lin, T.; Lewis, R. A.; Nussbaum, R. L.: Molecular confirmation of carriers for Lowe syndrome. Ophthalmology 106: 119-122, 1999.
[0031737]22325.Lin, T.; Orrison, B. M.; Leahey, A.-M.; Suchy, S. F.; Bernard, D. J.; Lewis, R. A.; Nussbaum, R. L.: Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome. Am. J. Hum. Genet. 60: 1384-1388, 1997.
[0031738]22326.Kutsche, K.; Yntema, H.; Brandt, A.; Jantke, I.; Nothwang, H. G.; Orth, U.; Boavida, M. G.; David, D.; Chelly, J.; Fryns, J.-P.; Moraine, C.; Ropers, H.-H.; Hamel, B. C. J.; van Bokhoven, H.; Gal, A.: Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation. Nature Genet. 26: 247-250, 2000.
[0031739]22327.Lower, K. M.; Gecz, J.: Characterization of ARHGEF6, a guanine nucleotide exchange factor for Rho GTPases and a candidate gene for X-linked mental retardation: mutation screening in Borjeson-Forssman-Lehmann syndrome and MRX27. Am. J. Med. Genet. 100: 43-48, 2001.
[0031740]22328.Manser, E.; Loo, T.-H.; Koh, C.-G.; Zhao, Z.-S.; Chen, X.-Q.; Tan, L.; Tan, I.; Leung, T.; Lim, L.: PAK kinases are directly coupled to the PIX family of nucleotide exchange factors. Molec. Cell 1: 183-192, 1998.
[0031741]22329.Nomura, N.; Miyajima, N.; Sazuka, T.; Tanaka, A.; Kawarabayashi, Y.; Sato, S.; Nagase, T.; Seki, N.; Ishikawa, K.; Tabata, S.: Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line, KG-1. DNA Res. 1: 27-35, 1994.
[0031742]22330.von Ballestrem, C. L.; Boavida, M. G.; Zuther, C.; Carreiro, M. H.; David, D.; Gal, A.; Schwinger, E.: Jumping translocation in a phenotypically normal female. Clin. Genet. 49: 156-159, 1996.
[0031743]22331.Yntema, H. G.; Hamel, B. C.; Smits, A. P.; van Roosmalen, T.; van den Helm, B.; Kremer, H.; Ropers, H. H.; Smeets, D. F.; van Bokhoven, H.: Localisation of a gene for non-specific X linked mental retardation (MRX46) to Xq25-q26. J. Med. Genet. 35: 801-805, 1998.
[0031744]22332.Grozinger, C. M.; Hassig, C. A.; Schreiber, S. L.: Three proteins define a class of human histone deacetylases related to yeast Hda1p. Proc. Nat. Acad. Sci. 96: 4868-4873, 1999.
[0031745]22333.Hubbert, C.; Guardiola, A.; Shao, R.; Kawaguchi, Y.; Ito, A.; Nixon, A.; Yoshida, M.; Wang, X.-F.; Yao, T.-P.: HDAC6 is a microtubule-associated deacetylase. Nature 417: 455-458, 2002.
[0031746]22334.Mahlknecht, U.; Schnittger, S.; Landgraf, F.; Schoch, C.; Ottmann, O. G.; Hiddemann, W.; Hoelzer, D.: Assignment of the human histone deacetylase 6 gene (HDAC6) to X chromosome p11.23 by in situ hybridization. Cytogenet. Cell Genet. 93: 135-136, 2001.
[0031747]22335.Nagase, T.; Isikawa, K.; Suyama, M.; Kikuno, R.; Hirosawa, M.; Miyajima, N.; Tanaka, A.; Kotani, H.; Nomura, N.; Ohara, O.: Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. DNA Res. 5: 355-364, 1998.
[0031748]22336.Ichida, F.; Tsubata, S.; Bowles, K. R.; Haneda, N.; Uese, K.; Miyawaki, T.; Dreyer, W. J.; Messina, J.; Li, H.; Bowles, N. E.; Towbin, J. A.: Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. Circulation 103: 1256-1263, 2001.
[0031749]22337.Johnston, J.; Kelley, R. I.; Feigenbaum, A.; Cox, G. F.; Iyer, G. S.; Funanage, V. L.; Proujansky, R.: Mutation characterization and genotype-phenotype correlation in Barth syndrome. Am. J. Hum. Genet. 61: 1053-1058, 1997.
[0031750]22338.Kelley, R. I.; Cheatham, J. P.; Clark, B. J.; Nigro, M. A.; Powell, B. R.; Sherwood, G. W.; Sladky, J. T.; Swisher, W. P.: X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria. J. Pediat. 119: 738-747, 1991.
[0031751]22339.Sakamoto, O.; Kitoh, T.; Ohura, T.; Ohya, N.; Iinuma, K.: Novel missense mutation (R94S) in the TAZ (G4.5) gene in a Japanese patient with Barth syndrome. J. Hum. Genet. 47: 229-231, 2002.
[0031752]22340.Sakamoto, O.; Ohura, T.; Katsushima, Y.; Fujiwara, I.; Ogawa, E.; Miyabayashi, S.; Iinuma, K.: A novel intronic mutation of the TAZ (G4.5) gene in a patient with Barth syndrome: creation of a 5-prime splice donor site with variant GC consensus and elongation of the upstream exon. Hum. Genet. 109: 559-563, 2001.
[0031753]22341.Strasser, K.; Masuda, S.; Mason, P.; Pfannstiel, J.; Oppizzi, M.; Rodriguez-Navarro, S.; Rondon, A. G.; Aguilera, A.; Struhl, K.; Reed, R.; Hurt, E.: TREX is a conserved complex coupling transcription with messenger RNA export. Nature 417: 304-308, 2002.
[0031754]22342.Fortenberry, Y.; Hwang, J.-R.; Apletalina, E. V.; Lindberg, I. : Functional characterization of proSAAS: similarities and differences with 7B2. J. Biol. Chem. 277: 5175-5186, 2002.
[0031755]22343.Fricker, L. D.; McKinzie, A. A.; Sun, J.; Curran, E.; Qian, Y.; Yan, L.; Patterson, S. D.; Courchesne, P. L.; Richards, B.; Levin, N.; Mzhavia, N.; Devi, L. A.; Douglass, J.: Identification and characterization of proSAAS, a granin-like neuroendocrine peptide precursor that inhibits prohormone processing. J. Neurosci. 20: 639-648, 2000.
[0031756]22344.Omori, Y.; Mesnil, M.; Yamasaki, H.: Connexin 32 mutations from X-linked Charcot-Marie-Tooth disease patients: functional defects and dominant negative effects. Molec. Biol. Cell 7: 907-916, 1996.
[0031757]22345.Tabaraud, F.; Lagrange, E.; Sindou, P.; Vandenberghe, A.; Levy, N.; Vallat, J. M.: Demyelinating X-linked Charcot-Marie-Tooth disease: unusual electrophysiological findings. Muscle Nerve 22: 1442-1447, 1999.
[0031758]22346.Moser, A. B.; Moser, H. W.: The prenatal diagnosis of X-linked adrenoleukodystrophy. Prenatal Diag. 19: 46-48, 1999.
[0031759]22347.Sugarman, G. I.; Rimoin, D. L.; Lachman, R. S.: The facial-digital-genital (Aarskog) syndrome. Am. J. Dis. Child. 126: 248-252, 1973.
[0031760]22348.Tsukahara, M.; Fernandez, G. I.: Umbilical findings in Aarskog syndrome. Clin. Genet. 45: 260-265, 1994.
[0031761]22349.Tyrkus, M.; Bawle, E.; Lipman, S.; Bozimowski, D.; Woolley, P. V., Jr.: Aarskog-Scott syndrome inherited as an X-linked dominant with full male-female expression. (Abstract) Am. J. Hum. Genet. 32: 134A only, 1980.
[0031762]22350.van den Bergh, P.; Fryns, J. P.; Wilms, G.; Piot, R.; Dralands, G.; van den Bergh, R.: Anomalous cerebral venous drainage in Aarskog syndrome. Clin. Genet. 25: 288-294, 1984.
[0031763]22351.Zheng, Y.; Fischer, D. J.; Santos, M. F.; Tigyi, G.; Pasteris, N. G.; Gorski, J. L.; Xu, Y.: The faciogenital dysplasia gene product FGD1 functions as a Cdc42Hs-specific guanine-nucleotide exchange factor. J. Biol. Chem. 271: 33169-33172, 1996.
[0031764]22352.Inaba, H.; Fujimaki, M.; Kazazian, H. H., Jr.; Antonarakis, S. E.: MspI polymorphic site in intron 22 of the factor VIII gene in the Japanese population. Hum. Genet. 84: 214-215, 1990.
[0031765]22353.Levinson, B.; Bermingham, J. R., Jr.; Metzenberg, A.; Kenwrick, S.; Chapman, V.; Gitschier, J.: Sequence of the human factor VIII-associated gene is conserved in mouse. Genomics 13: 862-865, 1992.
[0031766]22354.Levinson, B.; Kenwrick, S.; Lakich, D.; Hammonds, G.; Gitschier, J.: A transcribed gene in an intron of the human factor VIII gene. Genomics 7: 1-11, 1990.
[0031767]22355.Peters, M. F.; Ross, C. A.: Isolation of a 40-kDa huntingtin-associated protein. J. Biol. Chem. 276: 3188-3194, 2001.
[0031768]22356.Berra, B.; Gornati, R.; Rapelli, S.; Gatti, R.; Mancini, G. M. S.; Ciana, G.; Bembi, B.: Infantile sialic acid storage disease: biochemical studies. Am. J. Med. Genet. 58: 24-31, 1995.
[0031769]22357.Cameron, P. D.; Dubowitz, V.; Besley, G. T. N.; Fensom, A. H.: Sialic acid storage disease. Arch. Dis. Child. 65: 314-315, 1990.
[0031770]22358.Haataja, L.; Schleutker, J.; Laine, A.-P.; Renlund, M.; Savontaus, M.-L.; Dib, C.; Weissenbach, J.; Peltonen, L.; Aula, P.: The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6. Am. J. Hum. Genet. 54: 1042-1049, 1994.
[0031771]22359.Mules, E. H.; Hayflick, S.; Miller, C. S.; Reynolds, L. W.; Thomas, G. H.: Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals. Am. J. Hum. Genet. 50: 834-841, 1992.
[0031772]22360.Myerowitz, R.: Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene. Hum. Mutat. 9: 195-208, 1997.
[0031773]22361.Myerowitz, R.: Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group. Proc. Nat. Acad. Sci. 85: 3955-3959, 1988.
[0031774]22362.Myerowitz, R.; Costigan, F. C.: The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase. J. Biol. Chem. 263: 18587-18589, 1988.
[0031775]22363.Myerowitz, R.; Hogikyan, N. D.: Different mutations in Ashkenazi Jewish and non-Jewish French Canadians with Tay-Sachs disease. Science 232: 1646-1648, 1986.
[0031776]22364.Myerowitz, R.; Hogikyan, N. D.: A deletion involving Alu sequences in the betahexosaminidase alpha-chain gene of French Canadians with Tay-Sachs disease. J. Biol. Chem. 262: 15396-15399, 1987.
[0031777]22365.Myerowitz, R.; Piekarz, R.; Neufeld, E. F.; Shows, T. B.; Suzuki, K.: Human betahexosaminidase alpha chain: coding sequence and homology with the beta chain. Proc. Nat. Acad. Sci. 82: 7830-7834, 1985.
[0031778]22366.Myerowitz, R.; Proia, R. L.: cDNA clone for the alpha-chain of human betahexosaminidase: deficiency of alpha-chain mRNA in Ashkenazi Tay-Sachs fibroblasts. Proc. Nat. Acad. Sci. 81: 5394-5398, 1984.
[0031779]22367.Nakai, H.; Byers, M. G.; Nowak, N. J.; Shows, T. B.: Assignment of betahexosaminidase A alpha-subunit to human chromosomal region 15q23-q24. Cytogenet. Cell Genet. 56: 164, 1991.
[0031780]22368.Nakano, T.; Muscillo, M.; Ohno, K.; Hoffman, A. J.; Suzuki, K. : A point mutation in the coding sequence of the beta-hexosaminidase alpha gene results in defective processing of the enzyme protein in an unusual GM2-gangliosidosis variant. J. Neurochem. 51: 984-987, 1988.
[0031781]22369.Nakano, T.; Nanba, E.; Tanaka, A.; Ohno, K.; Suzuki, Y.; Suzuki, K.: A new point mutation within exon 5 of beta-hexosaminidase alpha gene in a Japanese infant with Tay-Sachs disease. Ann. Neurol. 27: 465-473, 1990.
[0031782]22370.Navon, R.; Kolodny, E. H.; Mitsumoto, H.; Thomas, G. H.; Proia, R. L.: Ashkenazi-Jewish and non-Jewish adult G(M2) gangliosidosis patients share a common genetic defect. Am. J. Hum. Genet. 46: 817-821, 1990.
[0031783]22371.Navon, R.; Proia, R. L.: The mutations in Ashkenazi Jews with adult G(M2) gangliosidosis, the adult form of Tay-Sachs disease. Science 243: 1471-1474, 1989.
[0031784]22372.Navon, R.; Proia, R. L.: Tay-Sachs disease in Moroccan Jews: deletion of a phenylalanine in the alpha-subunit of beta-hexosaminidase. Am. J. Hum. Genet. 48: 412-419, 1991.
[0031785]22373.Nishimoto, J.; Tanaka, A.; Nanba, E.; Suzuki, K.: Expression of the betahexosaminidase alpha subunit gene with the four-base insertion of infantile Jewish Tay-Sachs disease. J. Biol. Chem. 266: 14306-14309, 1991.
[0031786]22374.Koch, M. C.; Ricker, K.; Otto, M.; Grimm, T.; Hoffman, E. P.; Rudel, R.; Bender, K.; Zoll, B.; Harper, P. S.; Lehmann-Horn, F.: Confirmation of linkage of hyperkalaemic periodic paralysis to chromosome 17. J. Med. Genet. 28: 583-586, 1991.
[0031787]22375.Lehmann-Horn, F.; Rudel, R.; Ricker, K.: Non-dystrophic myotonias and periodic paralyses. Neuromusc. Disord. 3: 161-168, 1993.
[0031788]22376.McClatchey, A. I.: Personal Communication. Boston, Mass. 3/16/1993.
[0031789]22377.McClatchey, A. I.; McKenna-Yasek, D.; Cros, D.; Worthen, H. G.; Kuncl, R. W.; DeSilva, S. M.; Cornblath, D. R.; Gusella, J. F.; Brown, R. H., Jr.: Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel. Nature Genet. 2: 148-152, 1992.
[0031790]22378.McClatchey, A. I.; Trofatter, J.; McKenna-Yasek, D.; Raskind, W.; Bird, T.; Pericak-Vance, M.; Gilchrist, J.; Arahata, K.; Radosavljevic, D.; Worthen, H. G.; Van den Bergh, P.; Haines, J. L.; Gusella, J. F.; Brown, R. H., Jr.: Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita. Am. J. Hum. Genet. 50: 896-901, 1992.
[0031791]22379.McClatchey, A. I.; Van den Bergh, P.; Pericak-Vance, M. A.; Raskind, W.; Verellen, C.; McKenna-Yasek, D.; Rao, K.; Haines, J. L.; Bird, T.; Brown, R. H., Jr.; Gusella, J. F.: Temperaturesensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita. Cell 68: 769-774, 1992.
[0031792]22380.Moslehi, R.; Langlois, S.; Yam, I.; Friedman, J. M.: Linkage of malignant hyperthermia and hyperkalemic periodic paralysis to the adult skeletal muscle sodium channel (SCN4A) gene in a large pedigree. Am. J. Med. Genet. 76: 21-27, 1998.
[0031793]22381.Ptacek, L. J.; George, A. L., Jr.; Barchi, R. L.; Griggs, R. C.; Riggs, J. E.; Robertson, M.; Leppert, M. F.: Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita. Neuron 8: 891-897, 1992.
[0031794]22382.Ptacek, L. J.; George, A. L., Jr.; Griggs, R. C.; Tawil, R.; Kallen, R. G.; Barchi, R. L.; Robertson, M.; Leppert, M. F.: Identification of a mutation in the gene causing hyperkalemic periodic paralysis. Cell 67: 1021-1027, 1991.
[0031795]22383.Ptacek, L. J.; Gouw, L.; Kwiencinski, H.; McManis, P.; Mendell, J. R.; Barohn, A. L., Jr.; Robertson, M.; Leppert, M. F.: Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis. Ann. Neurol. 33: 300-307, 1993.
[0031796]22384.Ptacek, L. J.; Tawil, R.; Griggs, R. C.; Meola, G.; McManis, P.; Barohn, R. J.; Mendell, J. R.; Harris, C.; Spitzer, R.; Santiago, F.; Leppert, M. F.: Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis. Neurology 44: 1500-1503, 1994.
[0031797]22385.Ptacek, L. J.; Tawil, R.; Griggs, R. C.; Storvick, D.; Leppert, M.: Linkage of atypical myotonia congenita to a sodium channel locus. Neurology 42: 431-433, 1992.
[0031798]22386.Ptacek, L. J.; Tyler, F.; Trimmer, J. S.; Agnew, W. S.; Leppert, M.: Analysis in a large hyperkalemic periodic paralysis pedigree supports tight linkage to a sodium channel locus. Am. J. Hum. Genet. 49: 378-382, 1991.
[0031799]22387.Ricker, K.; Moxley, R. T., III; Heine, R.; Lehmann-Horn, F.: Myotonia fluctuans: a third type of muscle sodium channel disease. Arch. Neurol. 51: 1095-1102, 1994.
[0031800]22388.Rudolph, J. A.; Spier, S. J.; Byrns, G.; Hoffman, E. P.: Linkage of hyperkalaemic periodic paralysis in Quarter horses to the horse adult skeletal muscle sodium channel gene. Anim. Genet. 23: 241-250, 1992.
[0031801]22389.Rudolph, J. A.; Spier, S. J.; Byrns, G.; Rojas, C. V.; Bernoco, D.; Hoffman, E. P.: Periodic paralysis in Quarter horses: a sodium channel mutation disseminated by selective breeding. Nature Genet. 2: 144-147, 1992.
[0031802]22390.Trudell, R. G.; Kaiser, K. K.; Griggs, R. C.: Acetazolamide responsive myotonia congenita. Neurology 37: 488-491, 1987.
[0031803]22391.Tyler, F. H.; Stephens, F. E.; Gunn, F. D.; Perkoff, G. T.: Studies in disorders of muscle. VII. Clinical manifestations and inheritance of a type of periodic paralysis without hypopotassemia. J. Clin. Invest. 30: 492-502, 1951.
[0031804]22392.European Polycystic Kidney Disease Consortium: The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. Cell 77: 881-894, 1994.
[0031805]22393.Gabow, P. A.: Autosomal dominant polycystic kidney disease. New Eng. J. Med. 329: 332-342, 1993.
[0031806]22394.Gal, A.; Wirth, B.; Kaariainen, H.; Lucotte, G.; Landais, P.; Gillessen-Kaesbach, G.; Muller-Wiefel, D. E.; Zerres, K.: Childhood manifestation of autosomal dominant polycystic kidney disease: no evidence for genetic heterogeneity. Clin. Genet. 35: 13-19, 1989.
[0031807]22395.Germino, G. G.; Barton, N. J.; Lamb, J.; Higgs, D. R.; Harris, P.; Xiao, G. H.; Scherer, G.; Nakamura, Y.; Reeders, S. T.: Identification of a locus which shows no genetic recombination with the autosomal dominant polycystic kidney disease gene on chromosome 16. Am. J. Hum. Genet. 46: 925-933, 1990.
[0031808]22396.Germino, G. G.; Weinstat-Saslow, D.; Himmelbauer, H.; Gillespie, G. A. J.; Somlo, S.; Wirth, B.; Barton, N.; Harris, K. L.; Frischauf, A.-M.; Reeders, S. T.: The gene for autosomal dominant polycystic kidney disease lies in a 750-kb CpG-rich region. Genomics 13: 144-151, 1992.
[0031809]22397.Gillespie, G. A. J.; Somlo, S.; Germino, G. G.; Weinstat-Saslow, D.; Reeders, S. T.: CpG island in the region of an autosomal dominant polycystic kidney disease locus defines the 5-prime end of a gene encoding a putative proton channel. Proc. Nat. Acad. Sci. 88: 4289-4293, 1991.
[0031810]22398.Harris, P. C.; Barton, N. J.; Higgs, D. R.; Reeders, S. T.; Wilkie, A. O. M.: A longrange restriction map between the alpha-globin complex and a marker closely linked to the polycystic kidney disease 1 (PKD1) locus. Genomics 7: 195-206, 1990.
[0031811]22399.Harris, P. C.; Thomas, S.; Ratcliffe, P. J.; Breuning, M. H.; Coto, E.; Lopez-Larrea, C.: Rapid genetic analysis of families with polycystic kidney disease 1 by means of a microsatellite marker. Lancet 338: 1484-1487, 1991.
[0031812]22400.Himmelbauer, H.; Pohlschmidt, M.; Snarey, A.; Germino, G. G.; Weinstat-Saslow, D.; Somlo, S.; Reeders, S. T.; Frischauf, A.-M.: Human-mouse homologies in the region of the polycystic kidney disease gene (PKD1). Genomics 13: 35-38, 1992.
[0031813]22401.Himmelbauer, H.; Pohlschmidt, M.; Snarey, A.; Somlo, S.; Weinstat-Saslow, D.; Germino, G.; Reeders, S.; Frischauf, A.-M.: A syntenic region between human 16p13.3 and mouse chromosome 17. (Abstract) Cytogenet. Cell Genet. 58: 2136, 1991.
[0031814]22402.Hughes, J.; Ward, C. J.; Peral, B.; Aspinwall, R.; Clark, K.; San Millan, J. L.; Gamble, V.; Harris, P. C.: The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains. Nature Genet. 10: 151-160, 1995.
[0031815]22403.International Polycystic Kidney Disease Consortium: Polycystic kidney disease: the complete structure of the PKD1 gene and its protein. Cell 81: 289-298, 1995.
[0031816]22404.Keith, T.; Reeders, S. T.; Brown, V. A.; Green, P.; Phipps, P.; Bricker, A.; Barton, N. J.; Collier, P. S.; Knowlton, R.; Nelson, C.; Helms, C.; Donis-Keller, H.: Linkage studies of autosomal dominant polycystic kidney disease (PKD1) and a genetic map of chromosome 16 based on 40 RFLP markers. (Abstract) Am. J. Hum. Genet. 41: A172, 1987.
[0031817]22405.Fujii, J.; Zarain-Herzberg, A.; Willard, H. F.; Tada, M.; MacLennan, D. H.: Structure of the rabbit phospholamban gene, cloning of the human cDNA, and assignment of the gene to human chromosome 6. J. Biol. Chem. 266: 11669-11675, 1991.
[0031818]22406.McTiernan, C. F.; Frye, C. S.; Lemster, B. H.; Kinder, E. A.; Ogletree-Hughes, M. L.; Moravec, C. S.; Feldman, A. M.: The human phospholamban gene: structure and expression. J. Molec. Cell Cardiol. 31: 679-692, 1999.
[0031819]22407.Otsu, K.; Fujii, J.; Periasamy, M.; Difilippantonio, M.; Uppender, M.; Ward, D. C.; MacLennan, D. H.: Chromosome mapping of five human cardiac and skeletal muscle sarcoplasmic reticulum protein genes. Genomics 17: 507-509, 1993.
[0031820]22408.Barhanin, J.; Lesage, F.; Guillemare, E.; Fink, M.; Lazdunski, M.; Romey, G.: K(v)LQT1 and IsK (minK) proteins associate to form the I(Ks) cardiac potassium current. Nature 384: 78-80, 1996.
[0031821]22409.Marx, S. O.; Kurokawa, J.; Reiken, S.; Motoike, H.; D'Armiento, J.; Marks, A. R.; Kass, R. S.: Requirement of a macromolecular signaling complex for beta adrenergic receptor modulation of the KCNQ1-KCNE1 potassium channel. Science 295: 496-499, 2002.
[0031822]22410.Sanguinetti, M. C.; Curran, M. E.; Zou, A.; Shen, J.; Spector, P. S.; Atkinson, D. L.; Keating, M. T.: Coassembly of K(v)LQT1 and minK (IsK) proteins to form cardiac I(Ks) potassium channel. Nature 384: 80-83, 1996.
[0031823]22411.Coleman, R. A.; Smith, W. L.; Narumiya, S.: VIII. International union of pharmacology classification of prostanoid receptors: properties, distribution, and structure of the receptors and their subtypes. Pharm. Rev. 46: 205-229, 1994.
[0031824]22412.Duncan, A. M. V.; Anderson, L. L.; Funk, C. D.; Abramovitz, M.; Adam, M.: Chromosomal localization of the human prostanoid receptor gene family. Genomics 25: 740-742, 1995.
[0031825]22413.White, D. M.; Mikol, D. D.; Espinosa, R.; Weimer, B.; Le Beau, M. M.; Stefansson, K.: Structure and chromosomal localization of the human gene for a brain form of prostaglandin D-2 synthase. J. Biol. Chem. 267: 23202-23208, 1992.
[0031826]22414.Sales, K. J.; Katz, A. A.; Davis, M.; Hinz, S.; Soeters, R. P.; Hofmeyr, M. D.; Millar, R. P.; Jabbour, H. N.: Cyclooxygenase-2 expression and prostaglandin E2 synthesis are up-regulated in carcinomas of the cervix: a possible autocrine/paracrine regulation of neoplastic cell function via EP2/EP4 receptors. J. Clin. Endocr. Metab. 86: 2243-2249, 2001.
[0031827]22415.Taketo, M.; Rochelle, J. M.; Sugimoto, Y.; Namba, T.; Honda, A.; Negishi, M.; Ichikawa, A.; Narumiya, S.; Seldin, M. F.: Mapping of the genes encoding mouse thromboxane A2 receptor and prostaglandin E receptor subtypes EP2 and EP3. Genomics 19: 585-588, 1994.
[0031828]22416.Catella-Lawson, F.; Reilly, M. P.; Kapoor, S. C.; Cucchiara, A. J.; DeMarco, S.; Tournier, B.; Vyas, S. N.; FitzGerald, G. A.: Cyclooxygenase inhibitors and the antiplatelet effects of aspirin. New Eng. J. Med. 345: 1809-1817, 2001.
[0031829]22417.Dube, J.-N.; Drouin, J.; Aminian, M.; Plant, M. H.; Laneuville, O.: Characterization of a partial prostaglandin endoperoxide H synthase-1 deficiency in a patient with a bleeding disorder. Brit. J. Haemat. 113: 878-885, 2001.
[0031830]22418.Funk, C. D.; Funk, L. B.; Kennedy, M. E.; Pong, A. S.; Fitzgerald, G. A.: Human platelet/erythroleukemia cell prostaglandin G/H synthase: cDNA cloning, expression, and gene chromosomal assignment. FASEB J. 5: 2304-2312, 1991.
[0031831]22419.Gavett, S. H.; Madison, S. L.; Chulada, P. C.; Scarborough, P. E.; Qu, W.; Boyle, J. E.; Tiano, H. F.; Lee, C. A.; Langenbach, R.; Roggli, V. L.; Zeldin, D. C.: Allergic lung responses are increased in prostaglandin H synthase-deficient mice. J. Clin. Invest. 104: 721-732, 1999.
[0031832]22420.Kirschenbaum, A.; Liotta, D. R.; Yao, S.; Liu, X.-H.; Klausner, A. P.; Unger, P.; Shapiro, E.; Leav, I.; Levine, A. C.: Immunohistochemical localization of cyclooxygenase-1 and cyclooxygenase-2 in the human fetal and adult male reproductive tracts. J. Clin. Endocr. Metab. 85: 3436-3441, 2000.
[0031833]22421.Langenbach, R.; Morham, S. G.; Tiano, H. F.; Loftin, C. D.; Ghanayem, B. I.; Chulada, P. C.; Mahler, J. F.; Lee, C. A.; Goulding, E. H.; Kluckman, K. D.; Kim, H. S.; Smithies, O.: Prostaglandin synthase 1 gene disruption in mice reduces arachidonic acid-induced inflammation and indomethacin-induced gastric ulceration. Cell 83: 483-492, 1995.
[0031834]22422.Malkowski, M. G.; Ginell, S. L.; Smith, W. L.; Garavito, R. M. : The productive conformation of arachidonic acid bound to prostaglandin synthase. Science 289: 1933-1937, 2000.
[0031835]22423.Pareti, F. I.; Manucci, P. M.; D'Angelo, A.; Smith, J. B.; Sautebin, L.; Galli, G.: Congenital deficiency of thromboxane and prostacyclin. Lancet I: 898-900, 1980.
[0031836]22424.Picot, D.; Loll, P. J.; Garavito, R. M.: The x-ray crystal structure of the membrane protein prostaglandin H-2 synthase-1. Nature 367: 243-249, 1994.
[0031837]22425.Pieke, S. A.; Kimberling, W. J.; Kenyon, J. B.; Gabow, P.: Genetic heterogeneity of polycystic kidney disease: an estimate of the proportion of families unlinked to chromosome 16. (Abstract) Am. J. Hum. Genet. 45 (suppl.): A58 only, 1989.
[0031838]22426.Qian, F.; Germino, F. J.; Cai, Y.; Zhang, X.; Somlo, S.; Germino, G. G.: PKD1 interacts with PKD2 through a probable coiled-coil domain. Nature Genet. 16: 179-183, 1997.
[0031839]22427.Ravine, D.; Walker, R. G.; Gibson, R. N.; Forrest, S. M.; Richards, R. I.; Friend, K.; Sheffield, L. J.; Kincaid-Smith, P.; Danks, D. M.: Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease. Lancet 340: 1330-1333, 1992.
[0031840]22428.Reynolds, D. M.; Hayashi, T.; Cai, Y.; Veldhuisen, B.; Watnick, T. J.; Lens, X. M.; Mochizuki, T.; Qian, F.; Maeda, Y.; Li, L.; Fossdal, R.; Coto, E.; Wu, G.; Breuning, M. H.; Germino, G. G.; Peters, D. J. M.; Somlo, S.: Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease. J. Am. Soc. Nephrol. 10: 2342-2351, 1999.
[0031841]22429.Romeo, G.; Devoto, M.; Costa, G.; Roncuzzi, L.; Catizone, L.; Zucchelli, P.; Germino, G.-G.; Keith, T.; Weatherall, D. J.; Reeders, S. T.: A second genetic locus for autosomal dominant polycystic kidney disease. Lancet II: 8-11, 1988.
[0031842]22430.San Millan, J. L.; Viribay, M.; Peral, B.; Martinez, I.; Weissenbach, J.; Moreno, F.: Refining the localization of the PKD2 locus on chromosome 4q by linkage analysis in Spanish families with autosomal dominant polycystic kidney disease type 2. Am. J. Hum. Genet. 56: 248-253, 1995.
[0031843]22431.Scheffers, M. S.; Le, H.; van der Bent, P.; Leonhard, W.; Prins, F.; Spruit, L.; Breuning, M. H.; de Heer, E.; Peters, D. J. M.: Distinct subcellular expression of endogenous polycystin-2 in the plasma membrane and Golgi apparatus of MDCK cells. Hum. Molec. Genet. 11: 59-67, 2002.
[0031844]22432.Schneider, M. C.; Rodriguez, A. M.; Nomura, H.; Zhou, J.; Morton, C. C.; Reeders, S. T.; Weremowicz, S.: A gene similar to PKD1 maps to chromosome 4q22: a candidate gene for PKD2. Genomics 38: 1-4, 1996.
[0031845]22433.Torra, R.; Badenas, C.; San Millan, J. L.; Perez-Oller, L.; Estivill, X.; Darnell, A.: A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2. Am. J. Hum. Genet. 65: 345-352, 1999.
[0031846]22434.Tsiokas, L.; Kim, E.; Arnould, T.; Sukhatme, V. P.; Walz, G.: Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2. Proc. Nat. Acad. Sci. 94: 6965-6970, 1997.
[0031847]22435.Veldhuisen, B.; Saris, J. J.; de Haij, S.; Hayashi, T.; Reynolds, D. M.; Mochizuki, T.; Elles, R.; Fossdal, R.; Bogdanova, N.; van Dijk, M. A.; Coto, E.; Ravine, D.; Norby, S.; Verellen-Dumoulin, C.; Breuning, M. H.; Somlo, S.; Peters, D. J. M.: A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2). Am. J. Hum. Genet. 61: 547-555, 1997.
[0031848]22436.Viribay, M.; Hayashi, T.; Telleria, D.; Mochizuki, T.; Reynolds, D. M.; Alonso, R.; Lens, X. M.; Moreno, F.; Harris, P. C.; Somlo, S.; San Millan, J. L.: Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene. Hum. Genet. 101: 229-234, 1997.
[0031849]22437.Watnick, T.; He, N.; Wang, K.; Liang, Y.; Parfrey, P.; Hefferton, D.; St. George-Hyslop, P.; Germino, G.; Pei, Y.: Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations. Nature Genet. 25: 143-144, 2000.
[0031850]22438.Wu, G.; D'Agati, V.; Cai, Y.; Markowitz, G.; Park, J. H.; Reynolds, D. M.; Maeda, Y.; Le, T. C.; Hou, H., Jr.; Kucherlapati, R.; Edelmann, W.; Somlo, S.: Somatic inactivation of Pkd2 results in polycystic kidney disease. Cell 98: 177-188, 1998.
[0031851]22439.Wu, G.; Markowitz, G. S.; Li, L.; D'Agati, V. D.; Factor, S. M.; Geng, L.; Tibara, S.; Tuchman, J.; Cai, Y.; Park, J. H.; van Adelsberg, J.; Hou, H., Jr.; Kucherlapati, R.; Edelmann, W.; Somlo, S.: Cardiac defects and renal failure in mice with targeted mutations in Pkd2. Nature Genet. 24: 75-78, 2000.
[0031852]22440.Wu, G.; Mochizuki, T.; Le, T. C.; Cai, Y.; Hayashi, T.; Reynolds, D. M.; Somlo, S.: Molecular cloning, cDNA sequence analysis, and chromosomal localization of mouse Pkd2. Genomics 45: 220-223, 1997.
[0031853]22441.Xenophontos, S.; Constantinides, R.; Hayashi, T.; Mochizuki, T.; Somlo, S.; Pierides, A.; Constantinou Deltas, C.: A transition frameshift mutation induced by a cytosine insertion in the polycystic kidney disease 2 gene (PKD2). Hum. Molec. Genet. 6: 949-952, 1997.
[0031854]22442.Zerres, K.; Mucher, G.; Rudnik-Schoneborn, S.: Autosomal recessive polycystic kidney disease does not map to the second gene locus for autosomal dominant polycystic kidney disease on chromosome 4. Hum. Genet. 93: 697-698, 1994.
[0031855]22443.Zerres, K.; Volpel, M. C.; Weiss, H.: Cystic kidneys: genetics, pathologic anatomy, clinical picture, and prenatal diagnosis. Hum. Genet. 68: 104-135, 1984.
[0031856]22444.Ala-Mello, S.; Koskimies, O.; Rapola, J.; Kaariainen, H.: Nephronophthisis in Finland: epidemiology and comparison of genetically classified subgroups. Europ. J. Hum. Genet. 7: 205-211, 1999.
[0031857]22445.Chamberlin, B. C.; Hagge, W. W.; Stickler, G. B.: Juvenile nephronophthisis and medullary cystic disease. Mayo Clin. Proc. 52: 485-491, 1977.
[0031858]22446.Hussels-Maumenee, I.; Pierce, E. R.; Bias, W. B.; Schleutermann, D. A.: Linkage studies of typical retinitis pigmentosa and common markers. Am. J. Hum. Genet. 27: 505-508, 1975.
[0031859]22447.Olsson, J. E.; Samanns, C.; Jimenez, J.; Pongratz, J.; Chand, A.; Watty, A.; Seuchter, S. A.; Denton, M.; Gal, A.: Gene of type II autosomal dominant retinitis pigmentosa maps on the long arm of chromosome 3. Am. J. Med. Genet. 35: 595-599, 1990.
[0031860]22448.Pierce, E. A.; Quinn, T.; Meehan, T.; McGee, T. L.; Berson, E. L.; Dryja, T. P.: Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa. Nature Genet. 22: 248-254, 1999.
[0031861]22449.Sullivan, L. S.; Heckenlively, J. R.; Bowne, S. J.; Zuo, J.; Hide, W. A.; Gal, A.; Denton, M.; Inglehearn, C. F.; Blanton, S. H.; Daiger, S. P.: Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa. Nature Genet. 22: 255-259, 1999.
[0031862]22450.Inglehearn, C.; Farrar, J.; Denton, M.; Gal, A.; Humphries, P.; Bhattacharya, S.: Evidence against a second autosomal dominant retinitis pigmentosa locus close to rhodopsin on chromosome 3q. (Letter) Am. J. Hum. Genet. 53: 536-537, 1993.
[0031863]22451.McInnes, R. R.; Bascom, R. A.: Retinal genetics: a nullifying effect for rhodopsin. Nature Genet. 1: 155-157, 1992.
[0031864]22452.McWilliam, P.; Farrar, G. J.; Kenna, P.; Bradley, D. G.; Humphries, M. M.; Sharp, E. M.; McConnell, D. J.; Lawler, M.; Sheils, D.; Ryan, C.; Stevens, K.; Daiger, S. P.; Humphries, P.: Autosomal dominant retinitis pigmentosa (ADRP): localization of an ADRP gene to the long arm of chromosome 3. Genomics 5: 619-622, 1989.
[0031865]22453.Chautard-Freire-Maia, E. A.: Probable assignment of the serum cholinesterase (E1) and transferrin (Tf) loci to chromosome 1 in man. Hum. Hered. 27: 134-142, 1977.
[0031866]22454.Chautard-Freire-Maia, E. A.: Probable assignment of the E1 and Tf loci to chromosome 1 in man. Ciencia e Cultura (Brazil) 28 (suppl.): 309-310, 1976.
[0031867]22455.Niswender, K. D.; Morton, G. J.; Stearns, W. H.; Rhodes, C. J.; Myers, M. G., Jr.; Schwartz, M. W.: Key enzyme in leptin-induced anorexia. Nature 413: 794-795, 2001.
[0031868]22456.Ogawa, Y.; Masuzaki, H.; Isse, N.; Okazaki, T.; Mori, K.; Shigemoto, M.; Satoh, N.; Tamura, N.; Hosoda, K.; Yoshimasa, Y.; Jingami, H.; Kawada, T.; Nakao, K.: Molecular cloning of rat obese cDNA and augmented gene expression in genetically obese Zucker fatty (fa/fa) rats. J. Clin. Invest. 96: 1647-1652, 1995.
[0031869]22457.Pasco, J. A.; Henry, M. J.; Kotowicz, M. A.; Collier, G. R.; Ball, M. J.; Ugoni, A. M.; Nicholson, G. C.: Serum leptin levels are associated with bone mass in nonobese women. J. Clin. Endocr. Metab. 86: 1884-1887, 2001.
[0031870]22458.Pelleymounter, M. A.; Cullen, M. J.; Baker, M. B.; Hecht, R.; Winters, D.; Boone, T.; Collins, F.: Effects of the obese gene product on body weight regulation in ob/ob mice. Science 269: 540-542, 1995.
[0031871]22459.Rink, T. J.: In search of a satiety factor. Nature 372: 408-409, 1994.
[0031872]22460.Rosenbaum, M.; Leibel, R. L.: The role of leptin in human physiology. (Editorial) New Eng. J. Med. 341: 913-915, 1999.
[0031873]22461.Saad, M. F.; Damani, S.; Gingerich, R. L.; Riad-Gabriel, M. G.; Khan, A.; Boyadjian, R.; Jinagouda, S. D.; El-Tawil, K.; Rude, R. K.; Kamdar, V.: Sexual dimorphism in plasma leptin concentration. J. Clin. Endocr. Metab. 82: 579-584, 1997.
[0031874]22462.Schubring, C.; Kiess, W.; Englaro, P.; Rascher, W.; Dotsch, J.; Hanitsch, S.; Attanasio, A.; Blum, W. F.: Levels of leptin in maternal serum, amniotic fluid, and arterial and venous cord blood: relation to neonatal and placental weight. J. Clin. Endocr. Metab. 82: 1480-1483, 1997.
[0031875]22463.Shanley, L. J.; Irving, A. J.; Rae, M. G.; Ashford, M. L. J.; Harvey, J.: Leptin inhibits rat hippocampal neurons via activation of large conductance calcium-activated K(+) channels. Nature Neurosci. 5: 299-300, 2002.
[0031876]22464.Shimomura, I.; Hammer, R. E.; Ikemoto, S.; Brown, M. S.; Goldstein, J. L.: Leptin reverses insulin resistance and diabetes mellitus in mice with congenital lipodystrophy. Nature 401: 73-76, 1999.
[0031877]22465.Shimomura, I.; Matsuda, M.; Hammer, R. E.; Bashmakov, Y.; Brown, M. S.; Goldstein, J. L.: Decreased IRS-2 and increased SREBP-1c lead to mixed insulin resistance and sensitivity in livers of lipodystrophic and ob/ob mice. Molec. Cell 6: 77-86, 2000.
[0031878]22466.Sierra-Honigmann, M. R.; Nath, A. K.; Murakami, C.; Garcia-Cardena, G.; Papapetropoulos, A.; Sessa, W. C.; Madge, L. A.; Schechner, J. S.; Schwabb, M. B.; Polverini, P. J.; Flores-Riveros, J. R.: Biological action of leptin as an angiogenic factor. Science 281: 1583-1586, 1998.
[0031879]22467.Sooranna, S. R.; Ward, S.; Bajoria, R.: Fetal leptin influences birth weight in twins with discordant growth. Pediat. Res. 49: 667-672, 2001.
[0031880]22468.Stattin, P.; Soderberg, S.; Hallmans, G.; Bylund, A.; Kaaks, R.; Stenman, U.-H.; Bergh, A.; Olsson, T.: Leptin is associated with increased prostate cancer risk: a nested case-referent study. J. Clin. Endocr. Metab. 86: 1341-1345, 2001.
[0031881]22469.Strobel, A.; Issad, T.; Camoin, L.; Ozata, M.; Strosberg, A. D. : A leptin missense mutation associated with hypogonadism and morbid obesity. (Letter) Nature Genet. 18: 213-215, 1998.
[0031882]22470.Szczypka, M. S.; Rainey, M. A.; Palmiter, R. D.: Dopamine is required for hyperphagia in Lep(ob/ob) mice. Nature Genet. 25: 102-104, 2000.
[0031883]22471.Trayhurn, P.; Thurlby, P. L.; James, W. P. T.: Thermogenic defect in pre-obese ob/ob mice. (Letter) Nature 266: 60-62, 1977.
[0031884]22472.Verploegen, S. A. B. W.; Plaetinck, G.; Devos, R.; Van der Heyden, J.; Guisez, Y.: A human leptin mutant induces weight gain in normal mice. FEBS Lett. 405: 237-240, 1997.
[0031885]22473.Weigle, D. S.; Ganter, S. L.; Kuijper, J. L.; Leonetti, D. L.; Boyko, E. J.; Fujimoto, W. Y.: Effect of regional fat distribution and Prader-Willi syndrome on plasma leptin levels. J. Clin. Endocr. Metab. 82: 566-570, 1997.
[0031886]22474.Wellhoener, P.; Fruehwald-Schultes, B.; Kern, W.; Dantz, D.; Kerner, W.; Born, J.; Fehm, H. L.; Peters, A.: Glucose metabolism rather than insulin is a main determinant of leptin secretion in humans. J. Clin. Endocr. Metab. 85: 1267-1271, 2000.
[0031887]22475.Zhang, Y.; Proenca, R.; Maffei, M.; Barone, M.; Leopold, L.; Friedman, J. M.: Positional cloning of the mouse obese gene and its human homologue. Nature 372: 425-432, 1994.
[0031888]22476.Zhao, A. Z.; Huan, J.-N.; Gupta, S.; Pal, R.; Sahu, A.: A phosphatidylinositol 3-kinasephosphodiesterase 3B-cyclic AMP pathway in hypothalamic action of leptin on feeding. Nature Neurosci. 5: 727-728, 2002.
[0031889]22477.Siracusa, L. D.; Rosner, M. H.; Vigano, M. A.; Gilbert, D. J.; Staudt, L. M.; Copeland, N. G.; Jenkins, N. A.: Chromosomal location of the octamer transcription factors, Otf-1, Otf-2, and Otf-3, defines multiple Otf-3-related sequences dispersed in the mouse genome. Genomics 10: 313-326, 1991.
[0031890]22478.Sturm, R. A.; Eyre, H. J.; Baker, E.; Sutherland, G. R.: The human OTF1 locus which overlaps the CD3Z gene is located at 1q22-q23. Cytogenet. Cell Genet. 68: 231-232, 1995.
[0031891]22479.Marshall, J. B.; Diaz-Arias, A. A.; Bochna, G. S.; Vogele, K. A.: Achalasia due to diffuse esophageal leiomyomatosis and inherited as an autosomal dominant disorder. Gastroenterology 98: 1358-1365, 1990.
[0031892]22480.Mattei, M. G.; d'Auriol, L.; Andre, C.; Passage, E.; Mattei, J. F.; Galibert, F.: Assignment of the human c-kit proto-oncogene to the q11-q12 region of chromosome 4, using in situ hybridization. (Abstract) Cytogenet. Cell Genet. 46: 657, 1987.
[0031893]22481.Nagata, H.; Worobec, A. S.; Oh, C. K.; Chowdhury, B. A.; Tannenbaum, S.; Suzuki, Y.; Metcalfe, D. D.: Identification of a point mutation in the catalytic domain of the protooncogene c-kit in peripheral blood mononuclear cells of patients who have mastocytosis with an associated hematologic disorder. Proc. Nat. Acad. Sci. 92: 10560-10564, 1995.
[0031894]22482.Nishida, T.; Hirota, S.; Taniguchi, M.; Hashimoto, K.; Isozaki, K.; Nakamura, H.; Kanakura, Y.; Tanaka, T.; Takabayashi, A.; Matsuda, H.; Kitamura, Y.: Familial gastrointestinal stromal tumours with germline mutation of the KIT gene. (Letter) Nature Genet. 19: 323-324, 1998.
[0031895]22483.Nocka, K.; Tan, J. C.; Chiu, E.; Chu, T. Y.; Ray, P.; Traktman, P.; Besmer, P.: Molecular bases of dominant negative and loss of function mutations at the murine c-kit/white spotting locus: W-37, W-v, W-41 and W. EMBO J. 9: 1805-1813, 1990.
[0031896]22484.Nomura, K.; Hatayama, I.; Narita, T.; Kaneko, T.; Shiraishi, M. : A novel KIT gene missense mutation in a Japanese family with piebaldism. (Letter) J. Invest. Derm. 111: 337-338, 1998.
[0031897]22485.Pignon, J.-M.; Giraudier, S.; Duquesnoy, P.; Jouault, H.; Imbert, M.; Vainchenker, W.; Vernant, J.-P.; Tulliez, M.: A new c-kit mutation in a case of aggressive mast cell disease. Brit. J. Haemat. 96: 374-376, 1997.
[0031898]22486.Reinsch, N.; Thomsen, H.; Xu, N.; Brink, M.; Looft, C.; Kalm, E.; Brockmann, G. A.; Grupe, S.; Kuhn, C.; Schwerin, M.; Leyhe, B.; Hiendleder, S.; Erhardt, G.; Medjugorac, I.; Russ, I.; Forster, M.; Reents, R.; Averdunk, G.: A QTL for the degree of spotting in cattle shows synteny with the KIT locus on chromosome 6. J. Hered. 90: 629-634, 1999.
[0031899]22487.Selmanowitz, V. J.; Rabinowitz, A. D.; Orentreich, N.; Wenk, E. : Pigmentary correction of piebaldism by autografts. I. Procedures and clinical findings. J. Derm. Surg. Oncol. 3: 615-622, 1977.
[0031900]22488.Spritz, R. A.; Beighton, P.: Piebaldism with deafness: molecular evidence for an expanded syndrome. Am. J. Med. Genet. 75: 101-103, 1998.
[0031901]22489.Spritz, R. A.; Droetto, S.; Fukushima, Y.: Deletion of the KIT and PDGFRA genes in a patient with piebaldism. Am. J. Med. Genet. 44: 492-495, 1992.
[0031902]22490.Spritz, R. A.; Giebel, L. B.: Mutation of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism. (Abstract) Am. J. Hum. Genet. 49 (suppl.): 38, 1991.
[0031903]22491.Spritz, R. A.; Giebel, L. B.; Holmes, S. A.: Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism. Am. J. Hum. Genet. 50: 261-269, 1992.
[0031904]22492.Spritz, R. A.; Holmes, S. A.; Ramesar, R.; Greenberg, J.; Curtis, D.; Beighton, P.: Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism. Am. J. Hum. Genet. 51: 1058-1065, 1992.
[0031905]22493.Syrris, P.; Malik, N. M.; Murday, V. A.; Patton, M. A.; Carter, N. D.; Hughes, H. E.; Metcalfe, K.: Three novel mutations of the proto-oncogene KIT cause human piebaldism. (Letter) Am. J. Med. Genet. 95: 79-81, 2000.
[0031906]22494.Tan, J. C.; Nocka, K.; Ray, P.; Traktman, P.; Besmer, P.: The dominant W42 spotting phenotype results from a missense mutation in the c-kit receptor kinase. Science 247: 209-212, 1990.
[0031907]22495.Taylor, M. L.; Dastych, J.; Sehgal, D.; Sundstrom, M.; Nilsson, G.; Akin, C.; Mage, R. G.; Metcalfe, D. D.: The Kit-activating mutation D816V enhances stem cell factor-dependent chemotaxis. Blood 98: 1195-1199, 2001.
[0031908]22496.Thomsen, L.; Robinson, T. L.; Lee, J. C. F.; Farraway, L. A.; Hughes, M. J. G.; Andrews, D. W.; Huizinga, J. D.: Interstitial cells of Cajal generate a rhythmic pacemaker current. Nature Med. 4: 848-851, 1998.
[0031909]22497.Tian, Q.; Frierson, H. F., Jr.; Krystal, G. W.; Moskaluk, C. A. : Activating c-kit gene mutations in human germ cell tumors. Am. J. Path. 154: 1643-1647, 1999.
[0031910]22498.Tsujimura, T.; Furitsu, T.; Morimoto, M.; Isozaki, K.; Nomura, S.; Matsuzawa, Y.; Kitamura, Y.; Kanakura, Y.: Ligand-independent activation of c-kit receptor tyrosine kinase in a murine mastocytoma cell line P-815 generated by a point mutation. Blood 83: 2619-2626, 1994.
[0031911]22499.Vandenbark, G. R.; deCastro, C. M.; Taylor, H.; Dew-Knight, S.; Kaufman, R. E.: Cloning and structural analysis of the human c-kit gene. Oncogene 7: 1259-1266, 1992.
[0031912]22500.Worobec, A. S.; Semere, T.; Nagata, H.; Metcalfe, D. D.: Clinical correlates of the presence of the asp816val c-kit mutation in the peripheral blood mononuclear cells of patients with mastocytosis. Cancer 83: 2120-2129, 1998.
[0031913]22501.Yarden, Y.; Kuang, W.-J.; Yang-Feng, T.; Coussens, L.; Munemitsu, S.; Dull, T. J.; Chen, E.; Schlessinger, J.; Francke, U.; Ullrich, A.: Human proto-oncogene c-kit: a new cell surface receptor tyrosine kinase for an unidentified ligand. EMBO J. 6: 3341-3351, 1987.
[0031914]22502.Cheah, M. S. C.; Ley, T. J.; Tronick, S. R.; Robbins, K. C.: Fgr proto-oncogene mRNA induced in B lymphocytes by Epstein-Barr virus infection. Nature 319: 238-240, 1986.
[0031915]22503.Dracopoli, N. C.; Stanger, B. Z.; Lager, M.; Housman, D. E.: Localization of the FGR protooncogene on the genetic linkage map of human chromosome 1p. Genomics 3: 124-128, 1988.
[0031916]22504.Le Beau, M. M.; Westbrook, C. A.; Diaz, M. O.; Rowley, J. D.: Evidence for two distinct c-src loci on human chromosomes 1 and 20. Nature 312: 70-71, 1984.
[0031917]22505.Lebo, R. V.; Cheung, M.-C.; Bruce, B. D.: Rapid gene mapping by dual laser chromosome sorting and spot blot DNA analysis. (Abstract) Am. J. Hum. Genet. 36: 101S, 1984.
[0031918]22506.Nishizawa, M.; Semba, K.; Yoshida, M. C.; Yamamoto, T.; Sasaki, M.; Toyoshima, K.: Structure, expression, and chromosomal location of the human c-fgr gene. Molec. Cell. Biol. 6: 511-517, 1986.
[0031919]22507.Kaiser, U. B.; Halvorsen, L. M.; Chen, M. T.: SP1, steroidogenic factor 1 (SF-1), and early growth response protein 1 (Egr-1) binding sites form a tripartite gonadotropin-releasing hormone response element in the rat luteinizing hormone-beta gene promoter: an integral role for SF-1. Molec. Endocr. 14: 1235-1245, 2000.
[0031920]22508.Liao, W. X.; Goh, H. H.; Roy, A. C.: Functional characterization of a natural variant of luteinizing hormone. Hum. Genet. 111: 219-224, 2002.
[0031921]22509.Liao, W. X.; Roy, a. C.; Chan, C.; Arulkumaran, S.; Ratnam, S. S.: A new molecular variant of luteinizing hormone associated with female infertility. Fertil. Steril. 69: 102-106, 1998.
[0031922]22510.Manna, P. R.; Joshi, L.; Reinhold, V. N.; Aubert, M. L.; Suganuma, N.; Pettersson, K.; Huhtaniemi, I. T.: Synthesis, purification and structural and functional characterization of recombinant form of a common genetic variant of human luteinizing hormone. Hum. Molec. Genet. 11: 301-315, 2002.
[0031923]22511.Mohrenweiser, H. W.; Tynan, K. M.; Branscomb, E. W.; de Jong, P. J.; Olsen, A.; Trask, B.; Carrano, A. V.: Development of an integrated genetic, functional and physical map of human chromosome 19. (Abstract) Cytogenet. Cell Genet. 58: 2021 only, 1991.
[0031924]22512.Muyan, M.; Furuhashi, M.; Sugahara, T.; Boime, I.: The carboxy-terminal region of the beta-subunits of luteinizing hormone and chorionic gonadotropin differentially influence secretion and assembly of the heterodimers. Molec. Endocr. 10: 1678-1687, 1996.
[0031925]22513.Park, I. J.; Burnett, L. S.; Jones, H. W., Jr.; Migeon, C. J.; Blizzard, R. M.: A case of male pseudohermaphroditism associated with elevated LH, normal FSH and low testosterone possibly due to the secretion of an abnormal LH molecule. Acta Endocr. 83: 173-181, 1976.
[0031926]22514.Pettersson, K.; Ding, Y.-Q.; Huhtaniemi, I.: An immunologically anomalous luteinizing hormone variant in a healthy woman. J. Clin. Endocr. Metab. 74: 164-171, 1992.
[0031927]22515.Quirk, C. C.; Lozada, K. L.; Keri, R. A.; Nilson, J. H.: A single Pitx1 binding site is essential for activity of the LH-beta promoter in transgenic mice. Molec. Endocr. 15: 734-746, 2001.
[0031928]22516.Raivio, T.; Huhtaniemi, I.; Anttila, R.; Siimes, M. A.; Hagenas, L.; Nilsson, C.; Pettersson, K.; Dunkel, L.: The role of luteinizing hormone-beta gene polymorphism in the onset and progression of puberty in healthy boys. J. Clin. Endocr. Metab. 81: 3278-3282, 1996.
[0031929]22517.Ramanujam, L. N.; Liao, W. X.; Roy, A. C.; Loganath, A.; Goh, H. H.; Ng, S. C.: Association of molecular variants of luteinizing hormone with menstrual disorders. Clin. Endocrin. 51: 243-246, 1999.
[0031930]22518.Ramanujam, L. N.; Liao, W. X.; Roy, A. C.; Ng, S. C.: Association of molecular variants of luteinizing hormone with male infertility. Hum. Reprod. 15: 925-928, 2000.
[0031931]22519.Roy, A. C.; Liao, W. X.; Chen, Y.; Arulkumaran, S.; Ratnam, S. S.: Identification of 7 novel mutations in LH beta-subunit gene by SSCP. Molec. Cell Biochem. 165: 151-153, 1996.
[0031932]22520.Shome, B.; Parlow, A. F.: The primary structure of the hormone-specific, beta subunit of human pituitary luteinizing hormone (hLH). J. Clin. Endocr. 36: 618-621, 1973.
[0031933]22521.Tapanainen, J. S.; Koivunen, R.; Fauser, B. C. J. M.; Taylor, A. E.; Clayton, R. N.; Rajkowa, M.; White, D.; Franks, S.; Anttila, L.; Pettersson, K. S. I.; Huhtaniemi, I. T.: A new contributing factor to polycystic ovary syndrome: the genetic variant of luteinizing hormone. J. Clin. Endocr. Metab. 84: 1711-1715, 1999.
[0031934]22522.van den Beld, A. W.; Huhtaniemi, I. T.; Pettersson, K. S. L.; Pols, H. A. P.; Grobbee, D. E.; de Jong, F. H.; Lamberts, S. W. J. : Luteinizing hormone and different genetic variants, as indicators of frailty in healthy elderly men. J. Clin. Endocr. Metab. 84: 1334-1339, 1999.
[0031935]22523.Weck, J.; Anderson, A. C.; Jenkins, S.; Fallest, P. C.; Shupnik, M. A.: Divergent, composite gonadotropin-releasing hormone-responsive elements in the rat luteinizing hormone subunit genes. Molec. Endocr. 14: 472-485, 2000.
[0031936]22524.Weiss, J.; Axelrod, L.; Whitcomb, R. W.; Harris, P. E.; Crowley, W. F.; Jameson, J. L.: Hypogonadism caused by a single amino acid substitution in the beta subunit of luteinizing hormone. New Eng. J. Med. 326: 179-183, 1992.
[0031937]22525.Atger, M.; Misrahi, M.; Sar, S.; Le Flem, L.; Dessen, P.; Milgrom, E.: Structure of the human luteinizing hormone-choriogonadotropin receptor gene: unusual promoter and 5-prime non-coding regions. Molec. Cell. Endocr. 111: 113-123, 1995.
[0031938]22526.Bardin, C. W.; Bullock, I. P.; Sherins, R. J.; Mowszowicz, I.; Blackburn, W. R.: Androgen metabolism and mechanism of action in male pseudohermaphroditism: a study of testicular feminization. Recent Prog. Horm. Res. 29: 65-109, 1973.
[0031939]22527.Berthezene, F.; Forest, M. G.; Grimaud, J. A.; Claustrat, B.; Mornex, R.: Leydig-cell agenesis: a cause of male pseudohermaphroditism. New Eng. J. Med. 295: 969-972, 1976.
[0031940]22528.Brown, D. M.; Markland, C.; Dehner, L. P.: Leydig cell hypoplasia--a cause of male pseudohermaphroditism. J. Clin. Endocr. Metab. 46: 1-7, 1978.
[0031941]22529.Canto, P.; Soderlund, D.; Ramon, G.; Nishimura, E.; Mendez, J. P.: Mutational analysis of the luteinizing hormone receptor gene in two individuals with Leydig cell tumors. Am. J. Med. Genet. 108: 148-152, 2002.
[0031942]22530.Eblen, A.; Bao, S.; Lei, Z. M.; Nakajima, S. T.; Rao, C. V.: The presence of functional luteinizing hormone/chorionic gonadotropin receptors in human sperm. J. Clin. Endocr. Metab. 86: 2643-2648, 2001.
[0031943]22531.El-Awady, M. K.; Temtamy, S. A.; Salam, M. A.; Gad, Y. Z.: Familial Leydig cell hypoplasia as a cause of male pseudohermaphroditism. Hum. Hered. 37: 36-40, 1987.
[0031944]22532.Evans, B. A. J.; Bowen, D. J.; Smith, P. J.; Clayton, P. E.; Gregory, J. W.: A new point mutation in the luteinising hormone receptor gene in familial and sporadic male limited precocious puberty: genotype does not always correlate with phenotype. J. Med. Genet. 33: 143-147, 1996.
[0031945]22533.Gospodarowicz, D.: Properties of the luteinizing hormone receptor of isolated bovine corpus luteum plasma membrane. J. Biol. Chem. 248: 5042-5049, 1973.
[0031946]22534.Gromoll, J.; Eiholzer, U.; Nieschlag, E.; Simoni, M.: Male hypogonadism caused by homozygous deletion of exon 10 of the luteinizing hormone (LH) receptor: differential action of human chorionic gonadotropin and LH. J. Clin. Endocr. Metab. 85: 2281-2286, 2000.
[0031947]22535.Robert, B.; Barton, P.; Minty, A.; Daubas, P.; Weydert, A.; Bonhomme, F.; Catalan, J.; Chazottes, D.; Guenet, J. L.; Gros, F.; Buckingham, M. E.: Investigation of genetic linkage between myosin and actin genes using an interspecific mouse back-cross. Nature 314: 181-183, 1985.
[0031948]22536.Saez, L. J.; Gianola, K. M.; McNally, E. M.; Feghali, R.; Eddy, R.; Shows, T. B.; Leinwand, L. A.: Human cardiac myosin heavy chain genes and their linkage in the genome. Nucleic Acids Res. 15: 5443-5459, 1987.
[0031949]22537.Ye, K.; Aghdasi, B.; Luo, H. R.; Moriarity, J. L.; Wu, F. Y.; Hong, J. J.; Hurt, K. J.; Bae, S. S.; Suh, P.-G.; Snyder, S. H.: Phospholipase C-gamma-1 is a physiological guanine nucleotide exchange factor for the nuclear GTPase PIKE. Nature 415: 541-544, 2002.
[0031950]22538.Lazarou, L. P.; Davies, F.; Sarfarazi, M.; Coles, G. A.; Harper, P. S.: Adult polycystic kidney disease and linked RFLPs at the alpha-globin locus: a genetic study in the South Wales population. J. Med. Genet. 24: 466-473, 1987.
[0031951]22539.Burn, J.; Chapman, P.; Delhanty, J.; Wood, C.; Lalloo, F.; Cachon-Gonzalez, M. B.; Tsioupra, K.; Church, W.; Rhodes, M.; Gunn, A.: The UK northern region genetic register for familial adenomatous polyposis coli: use of age of onset, congenital hypertrophy of the retinal pigment epithelium, and DNA markers in risk calculations. J. Med. Genet. 28: 289-296, 1991.
[0031952]22540.Tsujii, M.; Kawano, S.; Tsuji, S.; Sawaoka, H.; Hori, M.; DuBois, R. N.: Cyclooxygenase regulates angiogenesis induced by colon cancer cells. Cell 93: 705-716, 1998.
[0031953]22541.Vane, J. R.; Mitchell, J. A.; Appleton, I.; Tomlinson, A.; Bishop-Bailey, D.; Croxtall, J.; Willoughby, D. A.: Inducible isoforms of cyclooxygenase and nitric-oxide synthase in inflammation. Proc. Nat. Acad. Sci. 91: 2046-2050, 1994.
[0031954]22542.Yokoyama, C.; Tanabe, T.: Cloning of human gene encoding prostaglandin endoperoxide synthase and primary structure of the enzyme. Biochem. Biophys. Res. Commun. 165: 888-894, 1989.
[0031955]22543.Schwarz, H. P.; Heeb, M. J.; Lottenberg, R.; Roberts, H.; Griffin, J. H.: Familial protein S deficiency with a variant protein S molecule in plasma and platelets. Blood 74: 213-221, 1989.
[0031956]22544.Stanislovitis, P.; Watkins, P. C.; Eddy, R.; Cohen, E. H.; Dackowski, W. R.; Wydro, R. M.; Shows, T. B.: Regional assignment of the gene for protein S to the human chromosome region 3p21-3q21. (Abstract) Am. J. Hum. Genet. 41: A187 only, 1987.
[0031957]22545.Watkins, P. C.; Eddy, R.; Fukushima, Y.; Byers, M. G.; Cohen, E. H.; Dackowski, W. R.; Wydro, R. M.; Shows, T. B.: The gene for protein S maps near the centromere of human chromosome 3. Blood 71: 238-241, 1988.
[0031958]22546.Watkins, P. C.; Eddy, R.; Fukushima, Y.; Byers, M. G.; Cohen, E. H.; Dackowski, W. R.; Wydro, R. M.; Shows, T. B.: Regional assignment of the gene for protein S (PROS) to the human chromosome region 3p11.1-q11.2. (Abstract) Cytogenet. Cell Genet. 46: 712 only, 1987.
[0031959]22547.Zoller, B.; Garcia de Frutos, P.; Dahlback, B.: Evaluation of the relationship between protein S and C4b-binding protein isoforms in hereditary protein S deficiency demonstrating type I and type III deficiencies to be phenotypic variants of the same genetic disease. Blood 85: 3524-3531, 1995.
[0031960]22548.Kaplan, R.; Morse, B.; Huebner, K.; Croce, C.; Howk, R.; Ravera, M.; Ricca, G.; Jaye, M.; Schlessinger, J.: Cloning of three human tyrosine phosphatases reveals a multigene family of receptor-linked protein-tyrosine-phosphatases expressed in brain. Proc. Nat. Acad. Sci. 87: 7000-7004, 1990.
[0031961]22549.Jirik, F. R.; Anderson, L. L.; Duncan, A. M. V.: The human protein-tyrosine phosphatase PTP-alpha/LRP gene (PTPA) is assigned to chromosome 20p13. Cytogenet. Cell Genet. 60: 117-118, 1992.
[0031962]22550.Jirik, F. R.; Janzen, N. M.; Melhado, I. G.; Harder, K. W.: Cloning and chromosomal assignment of a widely expressed human receptor-like protein-tyrosine phosphatase. FEBS Lett. 273: 239-242, 1990.
[0031963]22551.Matthews, R. J.; Cahir, E. D.; Thomas, M. L.: Identification of an additional member of the protein-tyrosine-phosphatase family: evidence for alternative splicing in the tyrosine phosphatase domain. Proc. Nat. Acad. Sci. 87: 4444-4448, 1990.
[0031964]22552.Rao, V. V. N. G.; Loffler, C.; Sap, J.; Schlessinger, J.; Hansmann, I.: The gene for receptor-linked protein-tyrosine-phosphatase (PTPA) is assigned to human chromosome 20p12-pter by in situ hybridization (ISH and FISH). Genomics 13: 906-907, 1992.
[0031965]22553.Schnittger, S.; Rao, V. V. N. G.; Deutsch, U.; Gruss, P.; Balling, R.; Hansmann, I.: PAX1, a member of the paired box-containing class of developmental control genes, is mapped to human chromosome 20p11.2 by in situ hybridization (ISH and FISH). Genomics 14: 740-744, 1992.
[0031966]22554.Ahmad, F.; Azevedo, J. L., Jr.; Cortright, R.; Dohm, G. L.; Goldstein, B. J.: Alternations in skeletal muscle protein-tyrosine phosphatase activity and expression in insulin-resistant human obesity and diabetes. J. Clin. Invest. 100: 449-458, 1997.
[0031967]22555.Brown-Shimer, S.; Johnson, K. A.; Lawrence, J. B.; Johnson, C.; Bruskin, A.; Green, N. R.; Hill, D. E.: Molecular cloning and chromosome mapping of the human gene encoding protein phosphotyrosyl phosphatase 1B. Proc. Nat. Acad. Sci. 87: 5148-5152, 1990.
[0031968]22556.Charbonneau, H.; Tonks, N. K.; Kumar, S.; Diltz, C. D.; Harrylock, M.; Cool, D. E.; Krebs, E. G.; Fischer, E. H.; Walsh, K. A.: Human placenta protein-tyrosine-phosphatase: amino acid sequence and relationship to a family of receptor-like proteins. Proc. Nat. Acad. Sci. 86: 5252-5256, 1989.
[0031969]22557.Chernoff, J.; Schievella, A. R.; Jost, C. A.; Erikson, R. L.; Neel, B. G.: Cloning of a cDNA for a major human protein-tyrosine-phosphatase. Proc. Nat. Acad. Sci. 87: 2735-2739, 1990.
[0031970]22558.Kerr, N. C.; Wilroy, R. S., Jr.; Kaufman, R. A.: Type 3 Pfeiffer syndrome with normal thumbs. Am. J. Med. Genet. 66: 138-143, 1996.
[0031971]22559.Lajeunie, E.; Cameron, R.; El Ghouzzi, V.; de Parseval, N.; Journeau, P.; Gonzales, M.; Delezoide, A.-L.; Bonaventure, J.; Le Merrer, M.; Renier, D.: Clinical variability in patients with Apert's syndrome. J. Neurosurg. 90: 443-447, 1999.
[0031972]22560.Lajeunie, E.; Ma, H. W.; Bonaventure, J.; Munnich, A.; Le Merrer, M.; Renier, D.: FGFR2 mutations in Pfeiffer syndrome. (Letter) Nature Genet. 9: 108, 1995.
[0031973]22561.Ma, H. W.; Lajeunie, E.; Le\Merrer, M.; de\Parseval, N.; Serville, F.; Weissenbach, J.; Munnich, A.; Renier, D.: No evidence of genetic heterogeneity in Crouzon craniofacial dysostosis. Hum. Genet. 96: 731-735, 1995.
[0031974]22562.Mattei, M.-G.; Moreau, A.; Gesnel, M.-C.; Houssaint, E.; Breathnach, R.: Assignment by in situ hybridization of a fibroblast growth factor receptor gene to human chromosome band 10q26. Hum. Genet. 87: 84-86, 1991.
[0031975]22563.Meyers, G. A.; Day, D.; Goldberg, R.; Daentl, D. L.; Przylepa, K. A.; Abrams, L. J.; Graham, J. M., Jr.; Feingold, M.; Moeschler, J. B.; Rawnsley, E.; Scott, A. F.; Jabs, E. W.: FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing. Am. J. Hum. Genet. 58: 491-498, 1996.
[0031976]22564.Miki, T.; Fleming, T. P.; Bottaro, D. P.; Rubin, J. S.; Ron, D.; Aaronson, S. A.: Expression cDNA cloning of the KGF receptor by creation of a transforming autocrine loop. Science 251: 72-75, 1991.
[0031977]22565.Mulvihill, J. J.: Craniofacial syndromes: no such thing as a single gene disease. Nature Genet. 9: 101-103, 1995.
[0031978]22566.Munro, C. S.; Wilkie, A. O. M.: Epidermal mosaicism producing localised acne: somatic mutation in FGFR2. Lancet 352: 704-705, 1998.
[0031979]22567.Okajima, K.; Robinson, L. K.; Hart, M. A.; Abuelo, D. N.; Cowan, L. S.; Hasegawa, T.; Maumenee, I. H.; Jabs, E. W.: Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation. Am. J. Med. Genet. 85: 160-170, 1999.
[0031980]22568.Oldridge, M.; Lunt, P. W.; Zackai, E. H.; McDonald-McGinn, D. M.; Muenke, M.; Moloney, D. M.; Twigg, S. R. F.; Heath, J. K.; Howard, T. D.; Hoganson, G.; Gagnon, D. M.; Jabs, E. W.; Wilkie, A. O. M. : Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2. Hum. Molec. Genet. 6: 137-143, 1997.
[0031981]22569.Oldridge, M.; Zackai, E. H.; McDonald-McGinn, D. M.; Iseki, S.; Morriss-Kay, G. M.; Twigg, S. R. F.; Johnson, D.; Wall, S. A.; Jiang, W.; Theda, C.; Jabs, E. W.; Wilkie, A. O. M.: De novo Alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome. Am. J. Hum. Genet. 64: 446-461, 1999.
[0031982]22570.Park, W.-J.; Meyers, G. A.; Li, X.; Theda, C.; Day, D.; Orlow, S. J.; Jones, M. C.; Jabs, E. W.: Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. Hum. Molec. Genet. 4: 1229-1233, 1995.
[0031983]22571.Passo-Buenos, M. R.; Richieri-Costa, A.; Sertie, A. L.; Kneppers, A.: Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly. J. Med. Genet. 35: 677-679, 1998.
[0031984]22572.Priolo, M.; Lerone, M.; Baffico, M.; Baldi, M.; Ravazzolo, R.; Cama, A.; Capra, V.; Silengo, M.: Pfeiffer syndrome type 2 associated with a single amino acid deletion in the FGFR2 gene. (Letter) Clin. Genet. 58: 81-83, 2000.
[0031985]22573.Rees, J.: FGFR2 mutations and acne. (Letter) Lancet 352: 668-669, 1998.
[0031986]22574.Rutland, P.; Pulleyn, L. J.; Reardon, W.; Baraitser, M.; Hayward, R.; Jones, B.; Malcolm, S.; Winter, R. M.; Oldridge, M.; Slaney, S. F.; Poole, M. D.; Wilkie, A. O. M.: Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Nature Genet. 9: 173-176, 1995.
[0031987]22575.Schaefer, F.; Anderson, C.; Can, B.; Say, B.: Novel mutation in the FGFR2 gene at the same codon as the Crouzon syndrome mutations in a severe Pfeiffer syndrome type 2 case. Am. J. Med. Genet. 75: 252-255, 1998.
[0031988]22576.Shuster, S.: Dermatology in Clinical Medicine. Oxford: Oxford Univ. Press , 1978.
[0031989]22577.Slaney, S. F.; Oldridge, M.; Hurst, J. A.; Morriss-Kay, G. M.; Hall, C. M.; Poole, M. D.; Wilkie, A. O. M.: Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome. Am. J. Hum. Genet. 58: 923-932, 1996.
[0031990]22578.Steinberger, D.; Collmann, H.; Schmalenberger, B.; Muller, U. : A novel mutation (A886G) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly. J. Med. Genet. 34: 420-422, 1997.
[0031991]22579.Steinberger, D.; Mulliken, J. B.; Muller, U.: Predisposition for cysteine substitutions in the immunoglobulin-like chain of FGFR2 in Crouzon syndrome. Hum. Genet. 96: 113-115, 1995.
[0031992]22580.Vaughan, K. T.; Weber, F. E.; Ried, T.; Ward, D. C.; Reinach, F. C.; Fischman, D. A.: Human myosin-binding protein H (MyBP-H): complete primary sequence, genomic organization, and chromosomal localization. Genomics 16: 34-40, 1993.
[0031993]22581.Torbergsen, T.: A family with dominant hereditary myotonia, muscular hypertrophy, and increased muscular irritability, distinct from myotonia congenita Thomsen. Acta Neurol. Scand. 51: 225-232, 1975.
[0031994]22582.Harding, A. E.: The clinical features and classification of the late onset autosomal dominant cerebellar ataxias: a study of 11 families, including descendants of 'the Drew family of Walworth.'. Brain 105: 1-28, 1982.
[0031995]22583.Havener, W. H.: Cerebellar-macular abiotrophy. Arch. Ophthal. 45: 40-43, 1951.
[0031996]22584.Holmberg, M.; Johansson, J.; Forsgren, L.; Heijbel, J.; Sandgren, O.; Holmgren, G.: Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1. Hum. Molec. Genet. 4: 1441-1445, 1995.
[0031997]22585.Jampel, R. S.; Okazaki, H.; Bernstein, H.: Ophthalmoplegia and retinal degeneration associated with spinocerebellar ataxia. Arch. Ophthal. 66: 247-259, 1961.
[0031998]22586.Jonasson, J.; Juvonen, V.; Sistonen, P.; Ignatius, J.; Johansson, D.; Bjorck, E. J.; Wahlstrom, J.; Melberg, A.; Holmgren, G.; Forsgren, L.; Holmberg, M.: Evidence for a common spinocerebellar ataxia type 7 (SCA7) founder mutation in Scandinavia. Europ. J. Hum. Genet. 8: 918-922, 2000.
[0031999]22587.Kaytor, M. D.; Duvick, L. A.; Skinner, P. J.; Koob, M. D.; Ranum, L. P. W.; Orr, H. T.: Nuclear localization of the spinocerebellar ataxia type 7 protein, ataxin-7. Hum. Molec. Genet. 8: 1657-1664, 1999.
[0032000]22588.Koob, M. D.; Benzow, K. A.; Bird, T. D.; Day, J. W.; Moseley, M. L.; Ranum, L. P. W.: Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA. Nature Genet. 18: 72-75, 1998.
[0032001]22589.Krols, L.; Martin, J.-J.; David, G.; Van Regemorter, N.; Benomar, A.; Lofgren, A.; Stevanin, G.; Durr, A.; Brice, A.; Van Broeckhoven, C.: Refinement of the locus for autosomal dominant cerebellar ataxia type II to chromosome 3p21.1-14.1. Hum. Genet. 99: 225-232, 1997.
[0032002]22590.Lebre, A.-S.; Jamot, L.; Takahashi, J.; Spassky, N.; Leprince, C.; Ravise, N.; Zander, C.; Fujigasaki, H.; Kussel-Andermann, P.; Duyckaerts, C.; Camonis, J. H.; Brice, A.: Ataxin-7 interacts with a Cbl-associated protein that it recruits into neuronal intranuclear inclusions. Hum. Molec. Genet. 10: 1201-1213, 2001.
[0032003]22591.Lindblad, K.; Savontaus, M.-L.; Stevanin, G.; Holmberg, M.; Digre, K.; Zander, C.; Ehrsson, H.; David, G.; Benomar, A.; Nikoskelainen, E.; Trottier, Y.; Holmgren, G.; Ptacek, L. J.; Anttinen, A.; Brice, A.; Schalling, M.: An expanded CAG repeat sequence in spinocerebellar ataxia type 7. Genome Res. 6: 965-971, 1996.
[0032004]22592.Matilla, A.; Gorbea, C.; Einum, D. D.; Townsend, J.; Michalik, A.; van Broeckhoven, C.; Jensen, C. C.; Murphy, K. J.; Ptacek, L. J.; Fu, Y.-H.: Association of ataxin-7 with the proteasome subunit S4 of the 19S regulatory complex. Hum. Molec. Genet. 10: 2821-2831, 2001.
[0032005]22593.Michalik, A.; Del-Favero, J.; Mauger, C.; Lofgren, A.; Van Broeckhoven, C.: Genomic organisation of the spinocerebellar ataxia type 7 (SCA7) gene responsible for autosomal dominant cerebellar ataxia with retinal degeneration. Hum. Genet. 105: 410-417, 1999.
[0032006]22594.Stevanin, G.; Giunti, P.; David, G.; Belal, S.; Durr, A.; Ruberg, M.; Wood, N.; Brice, A.: De novo expansion of intermediate alleles in spinocerebellar ataxia 7. Hum. Molec. Genet. 7: 1809-1813, 1998.
[0032007]22595.Trottier, Y.; Lutz, Y.; Stevanin, G.; Imbert, G.; Devys, D.; Cancel, G.; Saudou, F.; Weber, C.; David, G.; Tora, L.; Agid, Y.; Brice, A.; Mandel, J.-L.: Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. Nature 378: 403-406, 1995.
[0032008]22596.Wadia, N. H.; Swami, R. K.: A new form of heredo-familial spinocerebellar degeneration with slow eye movements (nine families). Brain 94: 359-374, 1971.
[0032009]22597.Weiner, L. P.; Konigsmark, B. W.; Stoll, J., Jr.; Magladery, J. W.: Hereditary olivopontocerebellar atrophy with retinal degeneration: report of a family through six generations. Arch. Neurol. 16: 364-376, 1967.
[0032010]22598.Woodworth, J. A.; Beckett, R. S.; Netsky, M. G.: A composite of hereditary ataxias: a familial disorder with features of olivopontocerebellar atrophy, Leber's optic atrophy and Friedreich's ataxia. Arch. Intern. Med. 104: 594-606, 1959.
[0032011]22599.Yvert, G.; Lindenberg, K. S.; Picaud, S.; Landwehrmeyer, G. B.; Sahel, J. -A.; Mandel, J.-L.: Expanded polyglutamines induce neurodegeneration and trans-neuronal alterations in cerebellum and retina of SCA7 transgenic mice. Hum. Molec. Genet. 9: 2491-2506, 2000.
[0032012]22600.Zander, C.; Takahashi, J.; El Hachimi, K. H.; Fujigasaki, H.; Albanese, V.; Lebre, A. S.; Stevanin, G.; Duyckaerts, C.; Brice, A. : Similarities between spinocerebellar ataxia type 7 (SCA7) cell models and human brain: proteins recruited in inclusions and activation of caspase-3. Hum. Molec. Genet. 10: 2569-2579, 2001.
[0032013]22601.Cazzaniga, G.; Tosi, S.; Aloisi, A.; Giudici, G.; Daniotti, M.; Pioltelli, P.; Kearney, L.; Biondi, A.: The tyrosine kinase Abl-related gene ARG is fused to ETV6 in an AML-M4Eo patient with a t(1;12)(q25;p13): molecular cloning of both reciprocal transcripts. Blood 94: 4370-4373, 1999.
[0032014]22602.Iijima, Y.; Ito, T.; Oikawa, T.; Eguchi, M.; Eguchi-Ishimae, M.; Kamada, N.; Kishi, K.; Asano, S.; Sakaki, Y.; Sato, Y.: A new ETV6/TEL partner gene, ARG (ABL-related gene or ABL2), identified in an AML-M3 cell line with a t(1;12)(q25;p13) translocation. Blood 95: 2126-2131, 2000.
[0032015]22603.Mastick, C. C.; Brady, M. J.; Saltiel, A. R.: Insulin stimulates the tyrosine phosphorylation of caveolin. J. Cell Biol. 129: 1523-1531, 1995.
[0032016]22604.Petrelli, A.; Gilestro, G. F.; Lanzardo, S.; Comoglio, P. M.; Migone, N.; Giordano, S.: The endophilin-CIN85-Cbl complex mediates ligand-dependent downregulation of c-Met. Nature 416: 187-190, 2002.
[0032017]22605.Soubeyran, P.; Kowanetz, K.; Szymkiewicz, I.; Langdon, W. Y.; Dikic, I.: Cbl-CIN85-endophilin complex mediates ligand-induced downregulation of EGF receptors. Nature 416: 183-187, 2002.
[0032018]22606.Cannizzaro, L. A.; Madaule, P.; Hecht, F.; Axel, R.; Croce, C. M.; Huebner, K.: Chromosome localization of human ARH genes, a ras-related gene family. Genomics 6: 197-203, 1990.
[0032019]22607.Chardin, P.; Madaule, P.; Tavitian, A.: Coding sequence of human rho cDNAs clone 6 and clone 9. Nucleic Acid Res. 16: 2717 only, 1988.
[0032020]22608.Madaule, P.; Axel, R.: A novel ras-related gene family. Cell 41: 31-40, 1985.
[0032021]22609.Maekawa, M.; Ishizaki, T.; Boku, S.; Watanabe, N.; Fujita, A.; Iwamatsu, A.; Obinata, T.; Ohashi, K.; Mizuno, K.; Narumiya, S.: Signaling from Rho to the actin cytoskeleton through protein kinases ROCK and LIM-kinase. Science 285: 895-898, 1999.
[0032022]22610.Ridley, A. J.; Hall, A.: The small GTP-binding protein rho regulates the assembly of focal adhesions and actin stress fibers in response to growth factors. Cell 70: 389-399, 1992.
[0032023]22611.Fagan, K. P.; Oliveira, L.; Pittler, S. J.: Sequence of rho small GTP-binding protein cDNAs from human retina and identification of novel 5-prime end cloning artifacts. Exp. Eye Res. 59: 235-237, 1994.
[0032024]22612.Morris, S. W.; Valentine, M. B.; Kirstein, M. N.; Huebner, K.: Reassignment of the human ARH9 RAS-related gene to chromosome 1p13-p21. Genomics 15: 677-679, 1993.
[0032025]22613.Maesaki, R.; Ihara, K.; Shimizu, T.; Kuroda, S.; Kaibuchi, K.; Hakoshima, T.: The structural basis of Rho effector recognition revealed by the crystal structure of human RhoA complexed with the effector domain of PKN/PRK1. Molec. Cell 4: 793-803, 1999.
[0032026]22614.Nakamura, M.; Nagano, T.; Chikama, T.; Nishida, T.: Role of the small GTP-binding protein Rho in epithelial cell migration in the rabbit cornea. Invest. Ophthal. Vis. Sci. 42: 941-947, 2001.
[0032027]22615.Rao, P. V.; Deng, P.-F.; Kumar, J.; Epstein, D. L.: Modulation of aqueous humor outflow facility by the Rho kinase-specific inhibitor Y-27632. Invest. Ophthal. Vis. Sci. 42: 1029-1037, 2001.
[0032028]22616.Alexander, C.; Votruba, M.; Pesch, U. E. A.; Thiselton, D. L.; Mayer, S.; Moore, A.; Rodriguez, M.; Kellner, U.; Leo-Kottler, B.; Auburger, G.; Bhattacharya, S. S.; Wissinger, B.: OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nature Genet. 26: 211-215, 2000.
[0032029]22617.Rosenfeld, P. J.; Cowley, G. S.; McGee, T. L.; Sandberg, M. A.; Berson, E. L.; Dryja, T. P.: A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nature Genet. 1: 209-213, 1992.
[0032030]22618.Pulst, S.-M.; Nechiporuk, A.; Nechiporuk, T.; Gispert, S.; Chen, X.-N.; Lopes-Cendes, I.; Pearlman, S.; Starkman, S.; Orozco-Diaz, G.; Lunkes, A.; DeJong, P.; Rouleau, G. A.; Auburger, G.; Korenberg, J. R.; Figueroa, C.; Sahba, S.: Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nature Genet. 14: 269-276, 1996.
[0032031]22619.Sanpei, K.; Takano, H.; Igarashi, S.; Sato, T.; Oyake, M.; Sasaki, H.; Wakisaka, A.; Tashiro, K.; Ishida, Y.; Ikeuchi, T.; Koide, R.; Saito, M.; Sato, A.; Tanaka, T.; Hanyu, S.; Takiyama, Y.; Nishizawa, M.; Shimizu, N.; Nomura, Y.; Segawa, M.; Iwabuchi, K.; Eguchi, I.; Tanaka, H.; Takahashi, H.; Tsuji, S.: Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nature Genet. 14: 277-284, 1996.
[0032032]22620.Chen, K.; Yang, W.; Grimsby, J.; Shih, J. C.: The human 5-HT2 receptor is encoded by a multiple intron-exon gene. Brain Res. Molec. Brain Res. 14: 20-26, 1992.
[0032033]22621.Holmes, C.; Arranz, M. J.; Powell, J. F.; Collier, D. A.; Lovestone, S.: 5-HT-2A and 5-HT-2C receptor polymorphisms and psychopathology in late onset Alzheimer's disease. Hum. Molec. Genet. 7: 1507-1509, 1998.
[0032034]22622.Hsieh, C.-L.; Bowcock, A. M.; Farrer, L. A.; Hebert, J. M.; Huang, K. N.; Cavalli-Sforza, L. L.; Julius, D.; Francke, U.: The serotonin receptor subtype 2 locus HTR2 is on human chromosome 13 near genes for esterase D and retinoblastoma-1 and on mouse chromosome 14. Somat. Cell Molec. Genet. 16: 567-574, 1990.
[0032035]22623.Kato, M. V.; Shimizu, T.; Nagayoshi, M.; Kaneko, A.; Sasaki, M. S.; Ikawa, Y.: Genomic imprinting of the human serotonin-receptor (HTR2) gene involved in development of retinoblastoma. Am. J. Hum. Genet. 59: 1084-1090, 1996.
[0032036]22624.Liu, J.; Chen, Y.; Kozak, C. A.; Yu, L.: The 5-HT(2) serotonin receptor gene Htr-2 is tightly linked to Es-10 on mouse chromosome 14. Genomics 11: 231-234, 1991.
[0032037]22625.Peroutka, S. J.: 5-Hydroxytryptamine receptor subtypes. Ann. Rev. Neurosci. 11: 45-60, 1988.
[0032038]22626.Sparkes, R. S.; Lan, N.; Klisak, I.; Mohandas, T.; Diep, A.; Kojis, T.; Heinzmann, C.; Shih, J. C.: Assignment of a serotonin 5HT-2 receptor gene (HTR2) to human chromosome 13q14-q21 and mouse chromosome 14. Genomics 9: 461-465, 1991.
[0032039]22627.Williams, J.; McGuffin, P.; Nothen, M.; Owen, M. J.; EMASS Collaborative Group: Meta-analysis of association between the 5-HT (2A) receptor T102C polymorphism and schizophrenia. (Letter) Lancet 349: 1221 only, 1997.
[0032040]22628.Williams, J.; Spurlock, G.; McGuffin, P.; Mallet, J.; Nothen, M. M.; Gill, M.; Aschauer, H.; Nylander, P. O.; Macciardi, F.; Owen, M. J.: Association between schizophrenia and T102C polymorphism of the 5-hydroxytryptophan type 2a-receptor gene. European Multicentre Association Study of Schizophrenia (EMASS) Group. Lancet 347: 1294-1296, 1996.
[0032041]22629.Wulff, C.; Wilson, H.; Rudge, J. S.; Wiegand, S. J.; Lunn, S. F.; Fraser, H. M.: Luteal angiogenesis: prevention and intervention by treatment with vascular endothelial growth factor trapA40. J. Clin. Endocr. Metab. 86: 3377-3386, 2001.
[0032042]22630.Philipson, L. H.; Hice, R. E.; Schaefer, K.; LaMendola, J.; Bell, G. I.; Neldon, D. J.; Steiner, D. F.: Sequence and functional expression in Xenopus oocytes of a human insulinoma and islet potassium channel. Proc. Nat. Acad. Sci. 88: 53-57, 1991.
[0032043]22631.McPherson, J. D.; Wasmuth, J. J.; Chandy, K. G.; Swanson, R.; Dethlefs, B.; Chandy, G.; Wymore, R.; Ghanshani, S.: Chromosomal localization of 7 potassium channel genes. (Abstract) Cytogenet. Cell Genet. 58: 1979 only, 1991.
[0032044]22632.Tamkun, M. M.; Knoth, K. M.; Walbridge, J. A.; Kroemer, H.; Roden, D. M.; Glover, D. M.: Molecular cloning and characterization of two voltage-gated K+ channel cDNAs from human ventricle. FASEB J. 5: 331-337, 1991.
[0032045]22633.Phromchotikul, T.; Browne, D. L.; Curran, M. E.; Keating, M. T.; Litt, M.: Dinucleotide repeat polymorphism at the KCNA5 locus. Hum. Molec. Genet. 2: 1512 only, 1993.
[0032046]22634.Bardien-Kruger, S.; Wulff, H.; Arieff, Z.; Brink, P.; Chandy, K. G.; Corfield, V.: Characterisation of the human voltage-gated potassium channel gene, KCNA7, a candidate gene for inherited cardiac disorders, and its exclusion as cause of progressive familial heart block I (PFHBI). Europ. J. Hum. Genet. 10: 36-43, 2002.
[0032047]22635.Barton, J. W.; Hart, I. M.; Patterson, D.: Mapping of a locus correcting lack of phosphoribosylaminoimidazole carboxylase activity in Chinese hamster ovary cell Ade(-)D mutants to human chromosome 4. Genomics 9: 314-321, 1991.
[0032048]22636.Brayton, K. A.; Chen, Z.; Zhou, G.; Nagy, P. L.; Gavalas, A.; Trent, J. M.; Deaven, L. L.; Dixon, J. E.; Zalkin, H.: Two genes for de novo purine nucleotide synthesis on human chromosome 4 are closely linked and divergently transcribed. J. Biol. Chem. 269: 5313-5321, 1994.
[0032049]22637.Chu, E. H. Y.; Sun, N. C.; Chang, C. C.: Induction of auxotrophic mutants by treatment of Chinese hamster cells with 5-bromodeoxyuridine and black light. Proc. Nat. Acad. Sci. 68: 3459-3463, 1972.
[0032050]22638.Feldman, R. I.; Taylor, M. W.: Purine mutants of mammalian cell lines. II. Identification of a phosphoribosylpyrophosphate amidotransferase-deficient mutant of Chinese hamster lung cells. Biochem. Genet. 13: 227-234, 1975.
[0032051]22639.Gavalas, A.; Dixon, J. E.; Brayton, K. A.; Zalkin, H.: Coexpression of two closely linked avian genes for purine nucleotide synthesis from a bidirectional promoter. Molec. Cell. Biol. 13: 4784-4792, 1993.
[0032052]22640.Jones, C.; Morse, H. G.; Palmer, D. K.: Comparative gene mapping of man and higher primates involving genes assigned to human chromosomes 3, 4, 11, 21. (Abstract) Cytogenet. Cell Genet. 40: 662-663, 1985.
[0032053]22641.Stanley, W.; Chu, E. H. Y.: Assignment of the gene for phosphoribosylpyrophosphate amidotransferase to the pter-q21 region of human chromosome 4. Cytogenet. Cell Genet. 22: 228-231, 1978.
[0032054]22642.Zalkin, H.; Dixon, J. E.: De novo purine nucleotide biosynthesis. Prog. Nucleic Acids Res. Molec. Biol. 42: 259-287, 1992.
[0032055]22643.Parfrey, P. S.; Bear, J. C.; Morgan, J.; Cramer, B. C.; McManamon, P. J.; Gault, M. H.; Churchill, D. N.; Singh, M.; Hewitt, R.; Somlo, S.; Reeders, S. T.: The diagnosis and prognosis of autosomal dominant polycystic kidney disease. New Eng. J. Med. 323: 1085-1090, 1990.
[0032056]22644.Peral, B.; Gamble, V.; San Millan, J. L.; Strong, C.; Sloane-Stanley, J.; Moreno, F.; Harris, P. C.: Splicing mutations of the polycystic kidney disease 1 (PKD1) gene induced by intronic deletion. Hum. Molec. Genet. 4: 569-574, 1995.
[0032057]22645.Peral, B.; Ong, A. C. M.; San Millan, J. L.; Gamble, V.; Rees, L.; Harris, P. C.: A stable, nonsense mutation associated with a case of infantile onset polycystic kidney disease 1 (PKD1). Hum. Molec. Genet. 5: 539-542, 1996.
[0032058]22646.Peral, B.; San Millan, J. L.; Hernandez, C.; Valero, A.; Lathrop, G. M.; Beckmann, J. S.; Moreno, F.: Estimating locus heterogeneity in autosomal dominant polycystic kidney disease (ADPKD) in the Spanish population. J. Med. Genet. 30: 910-913, 1993.
[0032059]22647.Peral, B.; San Millan, J. L.; Ong, A. C. M.; Gamble, V.; Ward, C. J.; Strong, C.; Harris, P. C.: Screening the 3-prime region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations. Am. J. Hum. Genet. 58: 86-96, 1996.
[0032060]22648.Pound, S. E.; Carothers, A. D.; Pignatelli, P. M.; Macnicol, A. M.; Watson, M. L.; Wright, A. F.: Evidence for linkage disequilibrium between D16S94 and the adult onset polycystic kidney disease (PKD1) gene. J. Med. Genet. 29: 247-248, 1992.
[0032061]22649.Qian, F.; Watnick, T. J.; Onuchic, L. F.; Germino, G. G.: The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I. Cell 87: 979-987, 1996.
[0032062]22650.Reeders, S. T.: Personal Communication. Oxford, England 1986.
[0032063]22651.Reeders, S. T.: Multilocus polycystic disease. Nature Genet. 1: 235-237, 1992.
[0032064]22652.Reeders, S. T.: Personal Communication. Oxford, England 10/11/1985.
[0032065]22653.Reeders, S. T.; Breuning, M. H.; Davies, K. E.; Nicholls, R. D.; Jarman, A. P.; Higgs, D. R.; Pearson, P. L.; Weatherall, D. J.: A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16. Nature 317: 542-544, 1985.
[0032066]22654.Reeders, S. T.; Breuning, M. H.; Ryynanen, M. A.; Wright, A. F.; Davies, K. E.; King, A. W.; Watson, M. L.; Weatherall, D. J.: A study of genetic linkage heterogeneity in adult polycystic kidney disease. Hum. Genet. 76: 348-351, 1987.
[0032067]22655.Reeders, S. T.; Keith, T.; Green, P.; Germino, G. G.; Barton, N. J.; Lehmann, O. J.; Brown, V. A.; Phipps, P.; Morgan, J.; Bear, J. C.; Parfrey, P.: Regional localization of the autosomal dominant polycystic kidney disease locus. Genomics 3: 150-155, 1988.
[0032068]22656.Ryynanen, M.; Dolata, M. M.; Lampainen, E.; Reeders, S. T.: Localisation of a mutation producing autosomal dominant polycystic kidney disease without renal failure. J. Med. Genet. 24: 462-465, 1987.
[0032069]22657.Liu, S. C.; Palek, J.; Prchal, J. T.: Defective spectrin dimer-dimer association in hereditary elliptocytosis. Proc. Nat. Acad. Sci. 79: 2072-2076, 1982.
[0032070]22658.Torban, E.; Pelletier, J.; Goodyer, P.: F329L polymorphism in the human PAX8 gene. Am. J. Med. Genet. 72: 186-187, 1997.
[0032071]22659.Gartner, J.; Kearns, W.; Pearson, P.; Valle, D.: Characterization and localization of the human 70-kD peroxisomal membrane protein (PMP70) gene. (Abstract) Am. J. Hum. Genet. 51 (suppl.): A168, 1992.
[0032072]22660.Gartner, J.; Kearns, W.; Rosenberg, C.; Pearson, P.; Copeland, N. G.; Gilbert, D. J.; Jenkins, N. A.; Valle, D.: Localization of the 70-kDa peroxisomal membrane protein to human 1p21-p22 and mouse
[0032073]22661.Genomics 15: 412-414, 1993. 3. Gartner, J.; Moser, H.; Valle, D.: Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome. Nature Genet. 1: 16-23, 1992.
[0032074]22662.Vilain, C.; Rydlewski, C.; Duprez, L.; Heinrichs, C.; Abramowicz, M.; Malvaux, P.; Renneboog, B.; Parma, J.; Costagliola, S.; Vassart, G.: Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8. J. Clin. Endocr. Metab. 86: 234-238, 2001.
[0032075]22663.Walther, C.; Guenet, J.-L.; Simon, D.; Deutsch, U.; Jostes, B.; Goulding, M.; Plachov, D.; Balling, R.; Gruss, P.: Pax: a murine multigene family of paired box-containing genes. Genomics 11: 424-434, 1991.
[0032076]22664.Grueneberg, D. A.; Natesan, S.; Alexandre, C.; Gilman, M. Z.: Human and Drosophila homeodomain proteins that enhance the DNA-binding activity of serum response factor. Science 257: 1089-1095, 1992.
[0032077]22665.Kern, M. J.; Argao, E. A.; Birkenmeier, E. H.; Rowe, L. B.; Potter, S. S.: Genomic organization and chromosome localization of the murine homeobox gene Pmx. Genomics 19: 334-340, 1994.
[0032078]22666.Nakamura, T.; Yamazaki, Y.; Hatano, Y.; Miura, I.: NUP98 is fused to PMX1 homeobox gene in human acute myelogenous leukemia with chromosome translocation t(1;11)(q23;p15). Blood 94: 741-747, 1999.
[0032079]22667.Norris, R. A.; Scott, K. K.; Moore, C. S.; Stetten, G.; Brown, C. R.; Jabs, E. W.; Wulfsberg, E. A.; Yu, J.; Kern, M. J.: Human PRRX1 and PRRX2 genes: cloning, expression, genomic localization, and exclusion as disease genes for Nager syndrome. Mammalian Genome 11: 1000-1005, 2000.
[0032080]22668.Riazuddin, S.; Castelein, C. M.; Ahmed, Z. M.; Lalwani, A. K.; Mastroianni, M. A.; Naz, S.; Smith, T. N.; Liburd, N. A.; Friedman, T. B.; Griffith, A. J.; Riazuddin, S.; Wilcox, E. R.: Dominant modifier DFNM1 suppresses recessive deafness DFNB26. Nature Genet. 26: 431-434, 2000.
[0032081]22669.Schaller, J.: Illness resembling lupus erythematosus in mothers of boys with chronic granulomatous disease. Ann. Intern. Med. 76: 747-750, 1972.
[0032082]22670.Theofilopoulos, A. N.; Dixon, F. J.: Murine models of systemic lupus erythematosus. Adv. Immun. 37: 269-390, 1985.
[0032083]22671.Eng, C.; Peacocke, M.: PTEN and inherited hamartoma-cancer syndromes. (Letter) Nature Genet. 19: 223 only, 1998.
[0032084]22672.Friedl, W.; Uhlhaas, S.; Schulmann, K.; Stolte, M.; Loff, S.; Back, W.; Mangold, E.; Stern, M.; Knaebel, H. P.; Sutter, C.; Weber, R. G.; Pistorius, S.; Burger, B.; Propping, P.: Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers. Hum. Genet. 111: 108-111, 2002.
[0032085]22673.Howe, J. R.; Bair, J. L.; Sayed, M. G.; Anderson, M. E.; Mitros, F. A.; Petersen, G. M.; Velculescu, V. E.; Traverso, G.; Vogelstein, B.: Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis. Nature Genet. 28: 184-187, 2001.
[0032086]22674.Houlston, R.; Bevan, S.; Williams, A.; Young, J.; Dunlop, M.; Rozen, P.; Eng, C.; Markie, D.; Woodford-Richens, K.; Rodriguez-Bigas, M. A.; Leggett, B.; Neale, K.; Phillips, R.; Sheridan, E.; Hodgson, S.; Iwama, T.; Eccles, D.; Bodmer, W.; Tomlinson, I.: Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases. Hum. Molec. Genet. 7: 1907-1912, 1998.
[0032087]22675.Howe, J. R.; Ringold, J. C.; Summers, R. W.; Mitros, F. A.; Nishimura, D. Y.; Stone, E. M.: A gene for familial juvenile polyposis maps to chromosome 18q21.1. Am. J. Hum. Genet. 62: 1129-1136, 1998.
[0032088]22676.Howe, J. R.; Roth, S.; Ringold, J. C.; Summers, R. W.; Jarvinen, H. J.; Sistonen, P.; Tomlinson, I. P. M.; Houlston, R. S.; Bevan, S.; Mitros, F. A.; Stone, E. M.; Aaltonen, L. A.: Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science 280: 1086-1088, 1998.
[0032089]22677.Kurose, K.; Araki, T.; Matsunaka, T.; Takada, Y.; Emi, M.: Variant manifestation of Cowden disease in Japan: hamartomatous polyposis of the digestive tract with mutation of the PTEN gene. (Letter) Am. J. Hum. Genet. 64: 308-310, 1999.
[0032090]22678.Nelen, M. R.; Padberg, G. W.; Peeters, E. A.; Lin, A. Y.; van den Helm, B.; Frants, R. R.; Coulon, V.; Goldstein, A. M.; van Reen, M. M.; Easton, D. F.; Eeles, R. A.; Hodgsen, S.; and 10 others: Localization of the gene for Cowden disease to chromosome 10q22-23. Nature Genet. 13: 114-116, 1996.
[0032091]22679.Olschwang, S.; Serova-Sinilnikova, O. M.; Lenoir, G. M.; Thomas, G.: PTEN germline mutations in juvenile polyposis coli. (Letter) Nature Genet. 18: 12-14, 1998.
[0032092]22680.Meulenbelt, I.; Williams, C. J.; Te Koppele, J. M.; Van De Giessen, G. C.; Slagboom, P. E.: Population haplotype analysis and evolutionary relations of the COl2A1 gene. Ann. Hum. Genet. 60: 189-199, 1996.
[0032093]22681.Berry, C.; Cree, J.; Mann, T.: Aarskog's syndrome. Arch. Dis. Child. 55: 706-710, 1980.
[0032094]22682.Escobar, V.; Weaver, D. D.: Aarskog syndrome: new findings and genetic analysis. J.A.M.A. 240: 2638-2641, 1978.
[0032095]22683.Hanley, W. B.; McKusick, V. A.; Barranco, F. T.: Osteochondritis dissecans and associated malformations in brothers: a review of familial aspects. J. Bone Joint Surg. 49A: 925-937, 1967.
[0032096]22684.O'Reilly, M. S.; Holmgren, L.; Shing, Y.; Chen, C.; Rosenthal, R. A.; Moses, M.; Lane, W. S.; Cao, Y.; Sage, E. H.; Folkman, J.: Angiostatin: a novel angiogenesis inhibitor that mediates the suppression of metastases by a Lewis lung carcinoma. Cell 79: 315-328, 1994.
[0032097]22685.Waite, K. A.; Eng, C.: Protean PTEN: form and function. Am. J. Hum. Genet. 70: 829-844, 2002.
[0032098]22686.Armstrong, J. G.; Davies, D. R.; Guy, S. P.; Frayling, I. M.; Evans, D. G. R.: APC mutations in familial adenomatous polyposis families in the northwest of England. Hum. Mutat. 10: 376-380, 1997.
[0032099]22687.Ashton-Rickardt, P. G.; Dunlop, M. G.; Nakamura, Y.; Morris, R. G.; Purdie, C. A.; Steel, C. M.; Evans, H. J.; Bird, C. C.; Wyllie, A. H.: High frequency of APC loss in sporadic colorectal carcinoma due to breaks clustered in 5q21-22. Oncogene 4: 1169-1174, 1989.
[0032100]22688.Asman, H. B.; Pierce, E. R.: Familial multiple polyposis: a statistical study of a large Kentucky kindred. Cancer 25: 972-981, 1970.
[0032101]22689.Baker, R. H.; Heinemann, M.-H.; Miller, H. H.; DeCosse, J. J.: Hyperpigmented lesions of the retinal pigment epithelium in familial adenomatous polyposis. Am. J. Med. Genet. 31: 427-435, 1988.
[0032102]22690.Bapat, B.; Odze, R.; Mitri, A.; Berk, T.; Ward, M.; Gallinger, S.: Identification of somatic APC gene mutations in periampullary adenomas in a patient with familial adenomatous polyposis (FAP). Hum. Molec. Genet. 2: 1957-1959, 1993.
[0032103]22691.Barber, J. C. K.; Ellis, K. H.; Bowles, L. V.; Delhanty, J. D. A.; Ede, R. F.; Male, B. M.; Eccles, D. M.: Adenomatous polyposis coli and a cytogenetic deletion of chromosome 5 resulting from a maternal intrachromosomal insertion. J. Med. Genet. 31: 312-316, 1994.
[0032104]22692.Bell, B.; Mazzaferri, E. L.: Familial adenomatous polyposis (Gardner's syndrome) and thyroid carcinoma: a case report and review of the literature. Digest. Dis. Sci. 38: 185-190, 1993.
[0032105]22693.Benecke, E.: Ueber Epitheliome auf Atheromen (Epidermoide) und Dermoidcysten der Haut. Frankf. Z. Pathol. 42: 502-515, 1931.
[0032106]22694.Berk, T.; Cohen, Z.; Cullen, J. B.: Familial polyposis and the role of the preventive registry. Canad. Med. Assoc. J. 124: 1427-1428, 1981.
[0032107]22695.Beroud, C.; Soussi, T.: APC gene: database of germline and somatic mutations in human tumors and cell lines. Nucleic Acids Res. 24: 121-124, 1996.
[0032108]22696.Bisgaard, M. L.; Fenger, K.; Bulow, S.; Niebuhr, E.; Mohr, J. : Familial adenomatous polyposis (FAP): frequency, penetrance, and mutation rate. Hum. Mutat. 3: 121-125, 1994.
[0032109]22697.Blair, N. P.; Trempe, C. L.: Hypertrophy of the retinal pigment epithelium associated with Gardner's syndrome. Am. J. Ophthal. 90: 661-667, 1980.
[0032110]22698.Bodmer, W. F.; Bailey, C. J.; Bodmer, J.; Bussey, H. J. R.; Ellis, A.; Gorman, P.; Lucibello, F. C.; Murday, V. A.; Rider, S. H.; Scambler, P.; Sheer, D.; Solomon, E.; Spurr, N. K.: Localization of the gene for familial adenomatous polyposis on chromosome 5. Nature 328: 614-616, 1987.
[0032111]22699.Boland, C. R.; Sato, J.; Appelman, H. D.; Bresalier, R. S.; Feinberg, A. P.: Microallelotyping defines the sequence and tempo of allelic losses at tumour suppressor gene loci during colorectal cancer progression. Nature Med. 1: 902-909, 1995.
[0032112]22700.Boolbol, S. K.; Dannenberg, A. J.; Chadburn, A.; Martucci, C.; Guo, X.-J.; Ramonetti, J. T.; Abreu-Goris, M.; Newmark, H. L.; Lipkin, M. L.; DeCosse, J. J.; Bertagnolli, M. M.: Cyclooxygenase-2 overexpression and tumor formation are blocked by sulindac in a murine model of familial adenomatous polyposis. Cancer Res. 56: 2556-2560, 1996.
[0032113]22701.Brensinger, J. D.; Laken, S. J.; Luce, M. C.; Powell, S. M.; Vance, G. H.; Ahnen, D. J.; Petersen, G. M.; Hamilton, S. R.; Giardiello, F. M.: Variable phenotype of familial adenomatous polyposis in pedigrees with 3-prime mutation in the APC gene. Gut 43: 548-552, 1998.
[0032114]22702.Bull, M. J.; Ellis, F. D.; Sato, S.; Weaver, D. D.: Hypertrophy of retinal pigment epithelium in Gardner syndrome. (Abstract) Proc. Greenwood Genet. Center 4: 136 only, 1985.
[0032115]22703.Bunyan, D. J.; Shea-Simonds, J.; Reck, A. C.; Finnis, D.; Eccles, D. M.: Genotypephenotype correlations of new causative APC gene mutations in patients with familial adenomatous polyposis. J. Med. Genet. 32: 728-731, 1995.
[0032116]22704.Awata, H.; Endo, F.; Matsuda, I.: Structure of the human 4-hydroxyphenylpyruvic acid dioxygenase gene (HPD). Genomics 23: 534-539, 1994.
[0032117]22705.Nagase, T.; Seki, N.; Tanaka, A.; Ishikawa, K.; Nomura, N.: Prediction of the coding sequences of unidentified human genes. IV. The coding sequences of 40 new genes (KIAA0121-KIAA0160) deduced by analysis of cDNA clones from human cell line KG-1. DNA Res. 2: 167-174, 1995.
[0032118]22706.Parrish, J. E.; Ciccodicola, A.; Wehnert, M.; Cox, G. F.; Chen, E.; Nelson, D. L.: A muscle-specific DNase I-like gene in human Xq28. Hum. Molec. Genet. 4: 1557-1564, 1995.
[0032119]22707.Pergolizzi, R.; Appierto, V.; Bosetti, A.; DeBellis, G. L.; Rovida, E.; Biunno, I.: Cloning of a gene encoding a DNase I-like endonuclease in the human Xq28 region. Gene 168: 267-270, 1996.
[0032120]22708.Klink, A.; Schiebel, K.; Winkelmann, M.; Rao, E.; Horsthemke, B.; Ludecke, H.-J.; Claussen, U.; Scherer, G.; Rappold, G.: The human protein kinase gene PKX1 on Xp22.3 displays Xp/Yp homology and is a site of chromosomal instability. Hum. Molec. Genet. 4: 869-878, 1995.
[0032121]22709.Schiebel, K.; Mertz, A.; Winkelmann, B.; Glaser, B.; Schempp, W.; Rappold, G.: FISH localization of the human Y-homolog of protein kinase PRKX (PRKY) to Yp11.2 and two pseudogenes to 15q26 and Xq12-q13. Cytogenet. Cell Genet. 76: 49-52, 1997.
[0032122]22710.Brown, C. J.; Carrel, L.; Willard, H. F.: Expression of genes from the human active and inactive X chromosomes. Am. J. Hum. Genet. 60: 1333-1343, 1997.
[0032123]22711.Dong, B.; Horowitz, D. S.; Kobayashi, R.; Krainer, A. R.: Purification and cDNA cloning of HeLa cell p54(nrb), a nuclear protein with two RNA recognition motifs and extensive homology to human splicing factor PSF and Drosophila NONA/BJ6. Nucleic Acids Res. 21: 4085-4092, 1993.
[0032124]22712.Nelson, D. L.; Ballabio, A.; Cremers, F.; Monaco, A. P.; Schlessinger, D.: Report of the sixth international workshop on X chromosome mapping 1995. Cytogenet. Cell Genet. 71: 308-342, 1995.
[0032125]22713.Janssens, R.; Boeynaems, J.-M.; Godart, M.; Communi, D.: Cloning of a human heptahelical receptor closely related to the P2Y(5) receptor. Biochem. Biophys. Res. Commun. 236: 106-112, 1997.
[0032126]22714.O'Dowd, B. F.; Nguyen, T.; Jung, B. P.; Marchese, A.; Cheng, R.; Heng, H. H. Q.; Kolakowski, L. F., Jr.; Lynch, K. R.; George, S. R. : Cloning and chromosomal mapping of four putative novel human G-protein-coupled receptor genes. Gene 187: 75-81, 1997.
[0032127]22715.Bienvenu, T.; Der-Sarkissian, H.; Billuart, P.; Tissot, M.; Des Portes, V.; Bruls, T.; Chabrolle, J. P.; Chauveau, P.; Cherry, M.; Kahn, A.; Cohen, D.; Beldjord, C.; Chelly, J.; Cherif, D.: Mapping of the X-breakpoint involved in a balanced X;12 translocation in a female with mild mental retardation. Europ. J. Hum. Genet. 5: 105-109, 1997.
[0032128]22716.Billuart, P.; Bienvenu, T.; Ronce, N.; des Portes, V.; Vinet, M. C.; Zemni, R.; Crollius, H. R.; Carrie, A.; Fauchereau, F.; Cherry, M.; Briault, S.; Hamel, B.; Fryns, J.-P.; Beldjord, C.; Kahn, A.; Moraine, C.; Chelly, J.: Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation. Nature 392: 823-826, 1998.
[0032129]22717.Kozak, M.: Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes. Cell 44: 283-292, 1986.
[0032130]22718.Tentler, D.; Gustavsson, P.; Leisti, J.; Schueler, M.; Chelly, J.; Timonen, E.; Anneren, G.; Willard, H. F.; Dahl, N.: Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia. Europ. J. Hum. Genet. 7: 541-548, 1999.
[0032131]22719.Greenfield, A.; Carrel, L.; Pennisi, D.; Philippe, C.; Quaderi, N.; Siggers, P.; Steiner, K.; Tam, P. P. L.; Monaco, A. P.; Willard, H. F.; Koopman, P.: The UTX gene escapes X inactivation in mice and humans. Hum. Molec. Genet. 7: 737-742, 1998.
[0032132]22720.Greenfield, A. J.; Scott, D.; Pennisi, D.; Ehrmann, I.; Ellis, P.; Cooper, L.; Simpson, E.; Koopman, P.: An H-YDb epitope is encoded by a novel mouse Y chromosome gene. Nature Genet. 14: 474-478, 1996.
[0032133]22721.Lin, C.-S.; Aebersold, R. H.; Leavitt, J.: Correction of the N-terminal sequences of the human plastin isoforms by using anchored polymerase chain reaction: identification of a potential calcium-binding domain. Molec. Cell. Biol. 10: 1818-1821, 1990.
[0032134]22722.Fukuda, M. N.; Sato, T.; Nakayama, J.; Klier, G.; Mikami, M.; Aoki, D.; Nozawa, S.: Trophinin and tastin, a novel cell adhesion molecule complex with potential involvement in embryo implantation. Genes Dev. 9: 1199-1210, 1995.
[0032135]22723.Pack, S. D.; Tanigami, A.; Ledbetter, D. H.; Sato, T.; Fukuda, M. N.: Assignment of trophoblast/endometrial epithelium cell adhesion molecule trophinin gene TRO to human chromosome bands Xp11.22-p11.21 by in situ hybridization. Cytogenet. Cell Genet. 79: 123-124, 1997.
[0032136]22724.Suzuki, N.; Nakayama, J.; Shih, I. M.; Aoki, D.; Nozawa, S.; Fukuda, M. N.: Expression of trophinin, tastin, and bystin by trophoblast and endometrial cells in human placenta. Biol. Reprod. 60: 621-627, 1999.
[0032137]22725.Yan, M.; Wang, L.-C.; Hymowitz, S. G.; Schilbach, S.; Lee, J.; Goddard, A.; de Vos, A. M.; Gao, W.-Q.; Dixit, V. M.: Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors. Science 290: 523-527, 2000.
[0032138]22726.Sana, T. R.; Debets, R.; Timans, J. C.; Bazan, J. F.; Kastelein, R. A.: Computational identification, cloning, and characterization of IL1R9, a novel interleukin-1 receptor-like gene encoded over an unusually large interval of human chromosome Xq22.2-q22.3. Genomics 69: 252-262, 2000.
[0032139]22727.Bech-Hansen, N. T.; Naylor, M. J.; Maybaum, T. A.; Sparkes, R. L.; Koop, B.; Birch, D. G.; Bergen, A. A. B.; Prinsen, C. F. M.; Polomeno, R. C.; Gal, A.; Drack, A. V.; Musarella, M. A.; Jacobson, S. G.; Young, R. S. L.; Weleber, R. G.: Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness. Nature Genet. 26: 319-323, 2000.
[0032140]22728.Pusch, C. M.; Zeitz, C.; Brandau, O.; Pesch, K.; Achatz, H.; Feil, S.; Scharfe, C.; Maurer, J.; Jacobi, F. K.; Pinckers, A.; Andreasson, S.; Hardcastle, A.; Wissinger, B.; Berger, W.; Meindl, A.: The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein. Nature Genet. 26: 324-327, 2000.
[0032141]22729.Isbrandt, D.; Leicher, T.; Waldschutz, R.; Zhu, X.; Luhmann, U.; Michel, U.; Sauter, K.; Pongs, O.: Gene structures and expression profiles of three human KCND (Kv4) potassium channels mediating A-type currents I(to) and I(sa). Genomics 64: 144-154, 2000.
[0032142]22730.Cao, Z.; Henzel, W.; Gao, X.: IRAK: a kinase associated with the interleukin-1 receptor. Science 271: 1128-1131, 1996.
[0032143]22731.Kanakaraj, P.; Ngo, K.; Wu, Y.; Angulo, A.; Ghazal, P.; Harris, C.A.; Siekierka, J. J.; Peterson, P. A.; Fung-Leung, W. P.: Defective interleukin (IL)-18-mediated natural killer and T helper cell type 1 responses in IL-1 receptor-associated kinase (IRAK)-deficient mice. J. Exp. Med. 189: 1129-1138, 1999.
[0032144]22732.Thomas, J. A.; Allen, J. L.; Tsen, M.; Dubnicoff, T.; Danao, J.; Liao, X. C.; Cao, Z.; Wasserman, S. A.: Impaired cytokine signaling in mice lacking the IL-1 receptor-associated kinase. J. Immun. 163: 978-984, 1999.
[0032145]22733.van Vliet, J.; Turner, J.; Crossley, M.: Human Kruppel-like factor 8: a CACCC-box binding protein that associates with CtBP and represses transcription. Nucleic Acids Res. 28: 1955-1962, 2000.
[0032146]22734.Lurquin, C.; De Smet, C.; Brasseur, F.; Muscatelli, F.; Martelange, V.; De Plaen, E.; Brasseur, R.; Monaco, A. P.; Boon, T.: Two members of the human MAGEB gene family located in Xp21.3 are expressed in tumors of various histological origins. Genomics 46: 397-408, 1997.
[0032147]22735.Aguilar, M. J.; O'Brien, J. S.; Taber, P.: The syndrome of familial leukodystrophy, adrenal insufficiency and cutaneous melanosis.In: Aronson, S. M.; Volk, B. W.: Inborn Disorders of Sphingolipid Metabolism. Oxford: Pergamon Press (pub.) 1967. Pp. 149-166.
[0032148]22736.Alpern, M.; Sack, G. H., Jr.; Krantz, D. H.; Jenness, J.; Zhang, H.; Moser, H. W.: Chromosomal rearrangement segregating with adrenoleukodystrophy: associated changes in color vision. Proc. Nat. Acad. Sci. 90: 9494-9498, 1993.
[0032149]22737.ASHG statement: Professional disclosure of familial genetic information: the American Society of Human Genetics Social Issues Subcommittee on Familial Disclosure. Am. J. Hum. Genet. 62: 474-483, 1998.
[0032150]22738.Aubourg, P.; Adamsbaum, C.; Lavallard-Rousseau, M.-C.; Rocchiccioli, F.; Cartier, N.; Jambaque, I.; Jakobezak, C.; Lemaitre, A.; Boureau, F.; Wolf, C.; Bougneres, P.-F.: A two-year trial of oleic and erucic acids ('Lorenzo's oil') as treatment for adrenomyeloneuropathy. New Eng. J. Med. 329: 745-752, 1993.
[0032151]22739.Aubourg, P.; Blanche, S.; Jambaque, I.; Rocchiccioli, F.; Kalifa, G.; Naud-Saudreau, C.; Rolland, M.-O.; Debre, M.; Chaussain, J.-L.; Griscelli, C.; Fischer, A.; Bougneres, P.-F.: Reversal of early neurologic and neuroradiologic manifestations of X-linked adrenoleukodystrophy by bone marrow transplantation. New Eng. J. Med. 322: 1860-1866, 1990.
[0032152]22740.Aubourg, P.; Feil, R.; Guidoux, S.; Kaplan, J.-C.; Moser, H.; Kahn, A.; Mandel, J.-L.: The red-green visual pigment gene region in adrenoleukodystrophy. Am. J. Hum. Genet. 46: 459-469, 1990.
[0032153]22741.Aubourg, P.; Mosser, J.; Douar, A. M.; Sarde, C. O.; Lopez, J.; Mandel, J. L.: Adrenoleukodystrophy gene: unexpected homology to a protein involved in peroxisome biogenesis. Biochimie 75: 293-302, 1993.
[0032154]22742.Aubourg, P. R.; Sack, G. H., Jr.; Meyers, D. A.; Lease, J. J.; Moser, H. W.: Linkage of adrenoleukodystrophy to a polymorphic DNA probe. Ann. Neurol. 21: 349-352, 1987.
[0032155]22743.Aubourg, P. R.; Sack, G. H., Jr.; Moser, H.: Frequent alterations of visual pigment genes in adrenoleukodystrophy. Am. J. Hum. Genet. 42: 408-413, 1988.
[0032156]22744.Barcelo, A.; Giros, M.; Martinez-Bermejo, A.; Sarde, C.-O.; Coll, M. J.; Moser, J.; Mandel, J. L.; Estivill, X.; Pampols, T.: A frame shift mutation in the candidate gene of X-linked adrenoleukodystrophy. VI. International Congress of Inborn Errors of Metabolism. Milano, Italy May-27-31, 1994. Pp. 228 only.
[0032157]22745.Barcelo, A.; Giros, M.; Sarde, C. O.; Martinez-Bermejo, A.; Mandel, J. L.; Pampols, T.; Estivill, X.: Identification of a new frameshift mutation (1801delAG) in the ALD gene. Hum. Molec. Genet. 3: 1889-1890, 1994.
[0032158]22746.Berg, K. A.; Beaty, T. H.; Raven, M. B.; Moser, A. B.; Moser, H. W.: X-linked adrenoleukodystrophy in a 362 member kindred. (Abstract) Am. J. Hum. Genet. 45 (suppl.): A39, 1989.
[0032159]22747.Berger, J.; Molzer, B.; Fae, I.; Bernheimer, H.: X-linked adrenoleukodystrophy (ALD): a novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes. Biochem. Biophys. Res. Commun. 205: 1638-1643, 1994.
[0032160]22748.Bezman, L.; Moser, A. B.; Raymond, G. V.; Rinaldo, P.; Watkins, P. A.; Smith, K. D.; Kass, N. E.; Moser, H. W.: Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screening. Ann. Neurol. 49: 512-517, 2001.
[0032161]22749.Bezman, L.; Moser, H. W.: Incidence of X-linked adrenoleukodystrophy and the relative frequency of its phenotypes. (Editorial) Am. J. Med. Genet. 76: 415-419, 1998.
[0032162]22750.Blaw, M. E.: Melanodermic type leucodystrophy (adrenoleukodystrophy).In: Vinken, P. J.; Bruyn, G. W. (eds.): Handbook of Clinical Neurology. Vol. 10. Amsterdam: North Holland 1970. Pp. 128-133.
[0032163]22751.Boue, J.; Oberle, I.; Heilig, R.; Mandel, J. L.; Moser, A.; Moser, H.; Larsen, J. W., Jr.; Dumez, Y.; Boue, A.: First trimester prenatal diagnosis of adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis to a DNA probe. Hum. Genet. 69: 272-274, 1985.
[0032164]22752.Brady, R. O.: Inherited metabolic diseases of the nervous system. Science 193: 733-739, 1976.
[0032165]22753.Braun, A.; Ambach, H.; Kammerer, S.; Rolinski, B.; Stockler, S.; Rabl, W.; Gartner, J.; Zierz, S.; Roscher, A. A.: Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes. Am. J. Hum. Genet. 56: 854-861, 1995.
[0032166]22754.Jonsson, J. J.; Renieri, A.; Gallagher, P. G.; Kashtan, C. E.; Cherniske, E. M.; Bruttini, M.; Piccini, M.; Vitelli, F.; Ballabio, A.; Pober, B. R.: Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome? J. Med. Genet. 35: 273-278, 1998.
[0032167]22755.Kang, M. J.; Fujino, T.; Sasano, H.; Minekura, H.; Yabuki, N.; Nagura, H.; Iijima, H.; Yamamoto, T. T.: A novel arachidonate-preferring acyl-CoA synthetase is present in steroidogenic cells of the rat adrenal, ovary, and testis. Proc. Nat. Acad. Sci. 94: 2880-2884, 1997.
[0032168]22756.Meloni, I.; Muscettola, M.; Raynaud, M.; Longo, I.; Bruttini, M.; Moizard, M.-P.; Gomot, M.; Chelly, J.; des Portes, V.; Fryns, J.-P.; Ropers, H.-H.; Magi, B.; Bellan, C.; Volpi, N.; Yntema, H. G.; Lewis, S. E.; Schaffer, J. E.; Renieri, A.: FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. Nature Genet. 30: 436-440, 2002.
[0032169]22757.Minekura, H.; Kang, M.-J.; Inagaki, Y.; Cho, Y.-Y.; Suzuki, H.; Fujino, T.; Yamamoto, T. T.: Exon/intron organization and transcription units of the human acyl-CoA synthetase 4 gene. Biochem. Biophys. Res. Commun. 286: 80-86, 2001.
[0032170]22758.Piccini, M.; Vitelli, F.; Bruttini, M.; Pober, B. R.; Jonsson, J. J.; Villanova, M.; Zollo, M.; Borsani, G.; Ballabio, A.; Renieri, A.: FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation. Genomics 47: 350-358, 1998.
[0032171]22759.Vitelli, F.; Meloni, I.; Fineschi, S.; Favara, F.; Tiziana Storlazzi, C.; Rocchi, M.; Renieri, A.: Identification and characterization of mouse orthologs of the AMMECR1 and FACL4 genes deleted in AMME syndrome: orthology of Xq22.3 and MmuXF1-F3. Cytogenet. Cell Genet. 88: 259-263, 2000.
[0032172]22760.Lahn, B. T.; Page, D. C.: Functional coherence of the human Y chromosome. Science 278: 675-680, 1997.
[0032173]22761.Chung, J.; Lee, S.-G.; Song, K.: Identification of a human homolog of a putative RNA helicase gene (mDEAD3) expressed in mouse erythroid cells. Korean J. Biochem. 27: 193-197, 1995.
[0032174]22762.Park, S. H.; Lee, S.-G.; Kim, Y.; Song, K.: Assignment of a human putative RNA helicase gene, DDX3, to human X chromosome bands p11.3-p11.23. Cytogenet. Cell Genet. 81: 178-179, 1998.
[0032175]22763.Gasper, N. J.; Kinzy, T. G.; Scherer, B. J.; Humbelin, M.; Hershey, J. W. B.; Merrick, W. C.: Translation initiation factor eIF-2: cloning and expression of the human cDNA encoding the gamma-subunit. J. Biol. Chem. 269: 3415-3422, 1994.
[0032176]22764.Ehrmann, I. E.; Ellis, P. S.; Mazeyrat, S.; Duthie, S.; Brockdorff, N.; Mattei, M. G.; Gavin, M. A.; Affara, N. A.; Brown, G. M.; Simpson, E.; Mitchell, M. J.; Scott, D. M.: Characterization of genes encoding translation initiation factor eIF-2-gamma in mouse and human: sex chromosome localization, escape from X-inactivation and evolution. Hum. Molec. Genet. 7: 1725-1737, 1998.
[0032177]22765.Lee, S. M. Y.; Tsui, S. K. W.; Chan, K. K.; Garcia-Barcelo, M.; Waye, M. M. Y.; Fung, K. P.; Liew, C. C.; Lee, C. Y.: Chromosomal mapping, tissue distribution and cDNA sequence of four-and-a-half LIM domain protein 1 (FHL1). Gene 216: 163-170, 1998.
[0032178]22766.Morgan, M. J.; Madgwick, A. J.; Charleston, B.; Pell, J. M.; Loughna, P. T.: The developmental regulation of a novel muscle LIM-protein. Biochem. Biophys. Res. Commun. 212: 840-846, 1995.
[0032179]22767.Morgan, M. J.; Madgwick, A. J. A.: Slim defines a novel family of LIM-proteins expressed in skeletal muscle. Biochem. Biophys. Res. Commun. 225: 632-638, 1996.
[0032180]22768.Blanchet, P.; Wellemeyer, M. L.; Burton, G. V.: Retinitis pigmentosa following cytotoxic chemotherapy in Usher's syndrome. Am. J. Med. Sci. 303: 319-320, 1992.
[0032181]22769.Connor, W. E.; Weleber, R. G.; DeFrancesco, C.; Lin, D. S.; Wolf, D. P.: Sperm abnormalities in retinitis pigmentosa. Invest. Ophthal. Vis. Sci. 38: 2619-2628, 1997.
[0032182]22770.Barnard, P. J.; Derry, J. M. J.; Ryder-Cook, A. S.; Barnard, E. A.: Localization of the GABA(A) receptor alpha-3 subunit gene on the mouse X chromosome. (Abstract) Cytogenet. Cell Genet. 51: 958 only, 1989.
[0032183]22771.Bell, M. V.; Bloomfield, J.; McKinley, M.; Patterson, M. N.; Darlison, M. G.; Barnard, E. A.; Davies, K. E.: Physical linkage of a GABA-A receptor subunit gene to the DXS374 locus in human Xq28. Am. J. Hum. Genet. 45: 883-888, 1989.
[0032184]22772.Buckle, V. J.; Fujita, N.; Bateson, A. N.; Darlison, M. G.; Barnard, E. A.: Localization of the human GABA-A3 receptor subunit gene to Xq28: a candidate gene for X-linked manic depression. (Abstract) Cytogenet. Cell Genet. 51: 972 only, 1989.
[0032185]22773.Buckle, V. J.; Fujita, N.; Ryder-Cook, A. S.; Derry, J. M. J.; Barnard, P. J.; Lebo, R. V.; Schofield, P. R.; Seeburg, P. H.; Bateson, A. N.; Darlison, M. G.; Barnard, E. A.: Chromosomal localization of GABA-A receptor subunit genes: relationship to human genetic disease. Neuron 3: 647-654, 1989.
[0032186]22774.Derry, J. M. J.; Barnard, P. J.: Mapping of the glycine receptor alpha-2-subunit gene and the GABA-A alpha-3-subunit gene on the mouse X chromosome. Genomics 10: 593-597, 1991.
[0032187]22775.Buckle, V. J.; Edwards, J. H.; Evans, E. P.; Jonasson, J. A.; Lyon, M. F.; Peters, J.; Searle, A. G.: Comparative maps of human and mouse X chromosomes. (Abstract) Cytogenet. Cell Genet. 40: 594-595, 1985.
[0032188]22776.Mansour, I.; Delague, V.; Cazeneuve, C.; Dode, C.; Chouery, E.; Pecheux, C.; Medlej-Hashim, M.; Salem, N.; El Zein, L.; Levan-Petit, I.; Lefranc, G.; Goossens, M.; Delpech, M.; Amselem, S.; Loiselet, J.; Grateau, G.; Megarbane, A.; Naman, R.: Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek Orthodoxes, Greek Catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations. Europ. J. Hum. Genet. 9: 51-55, 2001.
[0032189]22777.Matzner, Y.; Brzezinski, A.: C5a-inhibitor deficiency in peritoneal fluids from patients with familial Mediterranean fever. New Eng. J. Med. 311: 287-290, 1984.
[0032190]22778.Matzner, Y.; Partridge, R. E. H.; Levy, M.; Babior, B. M.: Diminished activity of a chemotactic inhibitor in synovial fluids from patients with familial Mediterranean fever. Blood 63: 629-633, 1984.
[0032191]22779.Medlej-Hashim, M.; Petit, I.; Adib, S.; Chouery, E.; Salem, N.; Delague, V.; Rawashdeh, M.; Mansour, I.; Lefranc, G.; Naman, R.; Loiselet, J.; Lecron, J.-C.; Serre, J.-L.; Megarbane, A.: Familial Mediterranean fever: association of elevated IgD plasma levels with specific MEFV mutations. Europ. J. Hum. Genet. 9: 849-854, 2001.
[0032192]22780.Medlej-Hashim, M.; Salem, N.; Chouery, E.; Rawashdeh, M.; Delague, V.; Haffar, M.; Mansour, I.; Naman, R.; Lefranc, G.; Loiselet, J.; Megarbane, A.: Familial Mediterranean fever: the potential for misdiagnosis of E148V using the E148Q usual RFLP detection method. (Letter) Clin. Genet. 61: 71-73, 2002.
[0032193]22781.Meyerhoff, J.: Personal Communication. Salt Lake City, Utah and Baltimore, Md. 1978.
[0032194]22782.Meyerhoff, J.: Familial Mediterranean fever: report of a large family, review of the literature, and discussion of the frequency of amyloidosis. Medicine 59: 66-77, 1980.
[0032195]22783.Mollaret, P.: La meningite endothelio-leucocytaire multi-recurrente benign: syndrome nouveau du maladie nouvelle? Bull. Soc. Med. Hop. Paris 60: 121-122, 1944.
[0032196]22784.Ozdemir, A. I.; Sokmen, C.: Familial Mediterranean fever among the Turkish people. Am. J. Gastroent. 51: 311-316, 1969.
[0032197]22785.Ozyilkan, E.; Simsek, H.; Telatar, H.: Absence of asthma in patients with familial Mediterranean fever. Israel J. Med. Sci. 30: 237-238, 1994.
[0032198]22786.Papin, S.; Duquesnoy, P.; Cazeneuve, C.; Pantel, J.; Coppey-Moisan, M.; Dargemont, C.; Amselem, S.: Alternative splicing at the MEFV locus involved in familial Mediterranean fever regulates translocation of the marenostrin/pyrin protein to the nucleus. Hum. Molec. Genet. 9: 3001-3009, 2000.
[0032199]22787.Pras, E.; Aksentijevich, I.; Gruberg, L.; Balow, J. E., Jr.; Prosen, L.; Dean, M.; Steinberg, A. D.; Pras, M.; Kastner, D. L.: Mapping of a gene causing familial Mediterranean fever to the short arm of chromosome 16. New Eng. J. Med. 326: 1509-1513, 1992.
[0032200]22788.Pras, E.; Aksentijevich, I.; Gruberg, L.; Shen, Y.; Prosen, L.; Balow, J. E., Jr.; Richards, R. I.; Pras, M.; Kastner, D. L.: Locus homogeneity in familial Mediterranean fever. (Abstract) Am. J. Hum. Genet. 51 (suppl.): A371, 1992.
[0032201]22789.Pras, E.; Aksentijevich, I.; Levy, E.; Gruberg, L.; Prosen, L.; Dean, M.; Pras, M.; Kastner, D. L.: The gene causing familial Mediterranean fever maps to the short arm of chromosome 16 in Druze and Moslem Arab families. Hum. Genet. 94: 576-577, 1994.
[0032202]22790.Pras, E.; Livneh, A.; Balow, J. E., Jr.; Pras, E.; Kastner, D. L.; Pras, M.; Langevitz, P.: Clinical differences between North African and Iraqi Jews with familial Mediterranean fever. Am. J. Med. Genet. 75: 216-219, 1998.
[0032203]22791.Pras, M.; Bronshpigel, N.; Zemer, D.; Gafni, J.: Variable incidence of amyloidosis in familial Mediterranean fever among different ethnic groups. Johns Hopkins Med. J. 150: 22-26, 1982.
[0032204]22792.Ravid, M.; Robson, M.; Kedar, I.: Prolonged colchicine treatment in four patients with amyloidosis. Ann. Intern. Med. 87: 568-570, 1977.
[0032205]22793.Rawashdeh, M. O.; Majeed, H. A.: Familial Mediterranean fever in Arab children: the high prevalence and gene frequency. Europ. J. Pediat. 155: 540-544, 1996.
[0032206]22794.Reimann, H. A.; Moadie, J.; Semerdijian, S.; Sahyoun, P. F.: Periodic peritonitis--heredity and pathology: report of seventy-two cases. J.A.M.A. 154: 1254-1259, 1954.
[0032207]22795.Rogers, D. B.; Shohat, M.; Petersen, G. M.; Bickal, J.; Congleton, J.; Schwabe, A. D.; Rotter, J. I.: Familial Mediterranean fever in Armenians: autosomal recessive inheritance with high gene frequency. Am. J. Med. Genet. 34: 168-172, 1989.
[0032208]22796.Rubinger, D.; Friedlaender, M. M.; Popovtzer, M. M.: Amelioration of familial Mediterranean fever during hemodialysis. New Eng. J. Med. 301: 142-144, 1979.
[0032209]22797.Saatci, U.; Ozen, S.; Ozdemir, S.; Bakkaloglu, A.; Besbas, N.; Topaloglu, R.; Arslan, S.: Familial Mediterranean fever in children: report of a large series and discussion of the risk and prognostic factors of amyloidosis. Europ. J. Pediat. 156: 619-623, 1997.
[0032210]22798.Sack, G. H., Jr.; Talbot, C. C., Jr.; McCarthy, B. G.; Harris, E. L.; Kastner, D.; Gruberg, L.; Pras, M.: Exclusion of linkage between familial Mediterranean fever and the human serum amyloid A (SAA) gene cluster. Hum. Genet. 87: 506-508, 1991.
[0032211]22799.Schaner, P.; Richards, N.; Wadhwa, A.; Aksentijevich, I.; Kastner, D.; Tucker, P.; Gumucio, D.: Episodic evolution of pyrin in primates: human mutations recapitulate ancestral amino acid states. Nature Genet. 27: 318-321, 2001.
[0032212]22800.Schlesinger, M.; Ilfeld, D. N.; Zamir, R.; Brautbar, C.: Familial Mediterranean fever: no linkage with HLA. Tissue Antigens 24: 65-66, 1984.
[0032213]22801.Schwabe, A. D.; Lehman, T. J. A.: C5a-inhibitor deficiency--a role in familial Mediterranean fever? (Editorial) New Eng. J. Med. 311: 325-326, 1984.
[0032214]22802.Schwabe, A. D.; Monroe, J. B.: Meningitis in familial Mediterranean fever. Am. J. Med. 85: 715-717, 1988.
[0032215]22803.Schwabe, A. D.; Nishizawa, A.: Recurrent polyserositis (familial Mediterranean fever) in a Japanese. Jpn. J. Med. 26: 370-372, 1987.
[0032216]22804.Schwabe, A. D.; Peters, R. S.: Familial Mediterranean fever in Armenians: analysis of 100 cases. Medicine 53: 453-462, 1974.
[0032217]22805.Schwabe, A. D.; Terasaki, P. I.; Barnett, E. V.; Territo, M. C.; Klinenberg, J. R.; Peters, R. S.: Familial Mediterranean fever--recent advances in pathogenesis and management. West. J. Med. 127: 15-23, 1977.
[0032218]22806.Chern, C. J.; Beutler, E.: Biochemical and electrophoretic studies of erythrocyte pyridoxine kinase in white and black Americans. Am. J. Hum. Genet. 28: 9-17, 1976.
[0032219]22807.Hanna, M. C.; Turner, A. J.; Kirkness, E. F.: Human pyridoxal kinase: cDNA cloning, expression, and modulation by ligands of the benzodiazepine receptor. J. Biol. Chem. 272: 10756-10760, 1997.
[0032220]22808.Dougherty, K. M.; Brandriss, M. C.; Valle, D.: Cloning human pyrroline-5-carboxylate reductase cDNA by complementation in Saccharomyces cerevisiae. J. Biol. Chem. 267: 871-875, 1992.
[0032221]22809.Merrill, M. J.; Yeh, G. C.; Phang, J. M.: Purified human erythrocyte pyrroline-5-carboxylate reductase: preferential oxidation of NADPH. J. Biol. Chem. 264: 9352-9358, 1989.
[0032222]22810.Bigley, R. H.; Stenzel, P.; Jones, R. T.; Campos, J. O.; Koler, R. D.: Tissue distribution of human pyruvate kinase isozymes. Enzym. Biol. Clin. 9: 10-20, 1968.
[0032223]22811.Bunn, H. F.: Personal Communication. Boston, Mass. 4/30/1981.
[0032224]22812.Chern, C. J.; Kennett, R.; Engel, L. E.; Mellman, W. J.; Croce, C. M.: Assignment of the structural genes for the alpha subunit of hexosaminidase A, mannosephosphate isomerase and pyruvate kinase to the region q22-qter of human chromosome 15. Somat. Cell Genet. 3: 553-560, 1977.
[0032225]22813.Junien, C.; Rubinson-Skala, H.; Dreyfus, J. C.; Ravise, N.; Boue, J.; Boue, A.; Kaplan, J. C.: PK3: a new chromosome enzyme marker for gene dosage studies in chromosome 15 imbalance. Hum. Genet. 54: 191-196, 1980.
[0032226]22814.Kahn, A.; Marie, J.; Garreau, H.; Sprengers, E. D.: Subunit structure, interrelations and kinetic characteristics of the pyruvate kinase from erythrocytes and liver. Biochim. Biophys. Acta 523: 58-74, 1978.
[0032227]22815.Levine, M.; Muirhead, H.; Stammers, D. K.; Stuart, D. I.: Structure of pyruvate kinase and similarities with other enzymes: possible implications for protein taxonomy and evolution. Nature 271: 626-630, 1978.
[0032228]22816.Nakashima, K.; Miwa, S.; Fujii, H.; Shinohara, K.; Yamauchi, K.; Tsuji, Y.; Yanai, M.: Characterization of pyruvate kinase, PK Nagasaki. J. Lab. Clin. Med. 90: 1012-1020, 1977.
[0032229]22817.Ritter, H.; Friedrichson, U.; Schmitt, J.: Genetic variation of mannose phosphate isomerase in man. Humangenetik 22: 261 only, 1974.
[0032230]22818.Sheffield, V. C.; Fishman, G. A.; Beck, J. S.; Kimura, A. E.; Stone, E. M.: Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresis. Am. J. Hum. Genet. 49: 699-706, 1991.
[0032231]22819.Sieving, P. A.; Richards, J. E.; Bingham, E. L.; Naarendorp, F. : Dominant congenital complete nyctalopia and gly90-to-asp rhodopsin mutation. (Abstract) Invest. Ophthal. Vis. Sci. 33: 1397, 1992.
[0032232]22820.Sieving, P. A.; Richards, J. E.; Naarendorp, F.; Bingham, E. L.; Scott, K.; Alpern, M.: Dark-light: model for nightblindness from the human rhodopsin gly90-to-asp mutation. Proc. Nat. Acad. Sci. 92: 880-884, 1995.
[0032233]22821.Sohocki, M. M.; Daiger, S. P.; Bowne, S. J.; Rodriquez, J. A.; Northrup, H.; Heckenlively, J. R.; Birch, D. G.; Mintz-Hittner, H.; Ruiz, R. S.; Lewis, R. A.; Saperstein, D. A.; Sullivan, L. S.: Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. Hum. Mutat. 17: 42-51, 2001.
[0032234]22822.Souied, E.; Soubrane, G.; Benlian, P.; Coscas, G. J.; Gerber, S.; Munnich, A.; Kaplan, J.: Retinitis punctata albescens associated with the arg135-to-trp mutation in the rhodopsin gene. Am. J. Ophthal. 121: 19-25, 1996.
[0032235]22823.Sullivan, L. J.; Makris, G. S.; Dickinson, P.; Mulhall, L. E. M.; App, D.; Forrest, S.; Cotton, R. G. H.; Loughnan, M. S.: A new codon 15 rhodopsin gene mutation in autosomal dominant retinitis pigmentosa is associated with sectorial disease. Arch. Ophthal. 111: 1512-1517, 1993.
[0032236]22824.Sung, C.-H.; Davenport, C. M.; Hennessey, J. C.; Maumenee, I. H.; Jacobson, S. G.; Heckenlively, J. R.; Nowakowski, R.; Fishman, G.; Gouras, P.; Nathans, J.: Rhodopsin mutations in autosomal dominant retinitis pigmentosa. Proc. Nat. Acad. Sci. 88: 6481-6485, 1991.
[0032237]22825.Sung, C.-H.; Davenport, C. M.; Nathans, J.: Rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa: clustering of functional classes along the polypeptide chain. J. Biol. Chem. 268: 26645-26649, 1993.
[0032238]22826.Sung, C.-H.; Makino, C.; Baylor, D.; Nathans, J.: A rhodopsin gene mutation responsible for autosomal dominant retinitis pigmentosa results in a protein that is defective in localization to the photoreceptor outer segment. J. Neurosci. 14: 5818-5833, 1994.
[0032239]22827.Sung, C.-H.; Schneider, B. G.; Agarwal, N.; Papermaster, D. S.; Nathans, J.: Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa. Proc. Nat. Acad. Sci. 88: 8840-8844, 1991.
[0032240]22828.Vaithinathan, R.; Berson, E. L.; Dryja, T. P.: Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. Genomics 21: 461-463, 1994.
[0032241]22829.Weleber, R. G.; Pillers, D. M.; Powell, B. R.; Hanna, C. E.; Magenis, R. E.; Buist, N. R. M.: Aland Island disease (Forsius-Eriksson syndrome) associated with contiguous gene syndrome at Xp21: similarity to incomplete congenital stationary night blindness. Arch. Ophthal. 107: 1170-1179, 1989.
[0032242]22830.Boehm, T.; Foroni, L.; Kaneko, Y.; Perutz, M. F.; Rabbitts, T. H.: The rhombotin family of cysteine-rich LIM-domain oncogenes: distinct members are involved in T-cell translocations to human chromosomes 11p15 and 11p13. Proc. Nat. Acad. Sci. 88: 4367-4371, 1991.
[0032243]22831.Royer-Pokora, B.; Loos, U.; Ludwig, W.-D.: TTG-2, a new gene encoding a cysteinerich protein with the LIM motif, is overexpressed in acute T-cell leukaemia with the t(11;14)(p13;q11). Oncogene 6: 1887-1893, 1991.
[0032244]22832.Yamada, Y.; Pannell, R.; Forster, A.; Rabbitts, T. H.: The oncogenic LIM-only transcription factor Lmo2 regulates angiogenesis but not vasculogenesis in mice. Proc. Nat. Acad. Sci. 97: 320-324, 2000.
[0032245]22833.Yamada, Y.; Warren, A. J.; Dobson, C.; Forster, A.; Pannell, R.; Rabbitts, T. H.: The T cell leukemia LIM protein Lmo2 is necessary for adult mouse hematopoiesis. Proc. Nat. Acad. Sci. 95: 3890-3895, 1998.
[0032246]22834.Yang-Feng, T. L.; Thelander, L.; Lewis, W. H.; Srinivasan, P. R.; Francke, U.: Gene localization of the ribonucleotide reductase M2 subunit and of related and co-amplified sequences on human and mouse chromosomes. (Abstract) Am. J. Hum. Genet. 39: A174 only, 1986.
[0032247]22835.Lindgren, V.; Bryke, C. R.; Ozcelik, T.; Yang-Feng, T. L.; Francke, U.: Phenotypic, cytogenetic, and molecular studies of three patients with constitutional deletions of chromosome 5 in the region of the gene for familial adenomatous polyposis. Am. J. Hum. Genet. 50: 988-997, 1992.
[0032248]22836.Barletta, C.; Druck, T.; LaForgia, S.; Calabretta, B.; Drabkin, H.; Patterson, D.; Croce, C. M.; Huebner, K.: Chromosome locations of the MYB related genes, AMYB and BMYB. Cancer Res. 51: 3821-3824, 1991.
[0032249]22837.Nomura, N.; Takahashi, M.; Matsui, M.; Ishii, S.; Date, T.; Sasamoto, S.; Ishizaki, R.: Isolation of human cDNA clones of MYB-related genes, A-MYB and B-MYB. Nucleic Acids Res. 16: 11075-11089, 1988.
[0032250]22838.Takahashi, T.; Nakagoshi, H.; Sarai, A.; Nomura, N.; Yamamoto, T.; Ishii, S.: Human A-myb gene encodes a transcriptional activator containing the negative regulatory domains. FEBS Lett. 358: 89-96, 1995.
[0032251]22839.Boylan, K. B.; Takahashi, N.; Diamond, M.; Hood, L. E.; Prusiner, S. B.: DNA length polymorphism located 5-prime to the human myelin basic protein gene. Am. J. Hum. Genet. 40: 387-400, 1987.
[0032252]22840.Dayhoff, M. O.: Atlas of Protein Sequence and Structure. Myelin membrane encephalitogenic protein. Washington: National Biomedical Research Foundation (pub.) 5: 1972. Pp. D324 only.
[0032253]22841.Eylar, E. H.; Brostoff, S.; Hashim, G.; Westall, F. C.: Basic A1 protein of the myelin membrane: the complete amino acid sequence. J. Biol. Chem. 246: 5770-5784, 1971.
[0032254]22842.Gomez, C. M.; Muggleton-Harris, A. L.; Whittingham, D. G.; Hood, L. E.; Readhead, C.: Rapid preimplantation detection of mutant (shiverer) and normal alleles of the mouse myelin basic protein gene allowing selective implantation and birth of live young. Proc. Nat. Acad. Sci. 87: 4481-4484, 1990.
[0032255]22843.Kamholz, J.; de Ferra, F.; Puckett, C.; Lazzarini, R.: Identification of three forms of human myelin basic protein by cDNA cloning. Proc. Nat. Acad. Sci. 83: 4962-4966, 1986.
[0032256]22844.Kamholz, J.; Spielman, R.; Gogolin, K.; Modi, W.; O'Brien, S.; Lazzarini, R.: The human myelin-basic-protein gene: chromosomal localization and RFLP analysis. Am. J. Hum. Genet. 40: 365-373, 1987.
[0032257]22845.Lalley, P. A.; McKusick, V. A.: Report of the committee on comparative mapping (HGM8). Cytogenet. Cell Genet. 40: 536-566, 1985.
[0032258]22846.Martensen, R. E.: Myelin basic protein speciation. Prog. Clin. Biol. Res. 146: 511-521, 1984.
[0032259]22847.Marty, M. C.; Alliot, F.; Rutin, J.; Fritz, R.; Trisler, D.; Pessac, B.: The myelin basic protein gene is expressed in differentiated blood cell lineages and in hemopoietic progenitors. Proc. Nat. Acad. Sci. 99: 8856-8861, 2002.
[0032260]22848.Molineaux, S. M.; Engh, H.; de Ferra, F.; Hudson, L.; Lazzarini, R. A.: Recombination within the myelin basic protein gene created the dysmyelinating shiverer mouse mutation. Proc. Nat. Acad. Sci. 83: 7542-7546, 1986.
[0032261]22849.Popko, B.; Puckett, C.; Lai, E.; Shine, H. D.; Readhead, C.; Takahashi, N.; Hunt, S. W., III; Sidman, R. L.; Hood, L.: Myelin deficient mice: expression of myelin basic protein and generation of mice with varying levels of myelin. Cell 48: 713-721, 1987.
[0032262]22850.Readhead, C.; Popko, B.; Takahashi, N.; Shine, H. D.; Saavedra, R. A.; Sidman, R. L.; Hood, L.: Expression of a myelin basic protein gene in transgenic shiverer mice: correction of the dysmyelinating phenotype. Cell 48: 703-712, 1987.
[0032263]22851.Roach, A.; Boylan, K.; Horvath, S.; Prusiner, S. B.; Hood, L. E.: Characterization of cloned cDNA representing rat myelin basic protein: absence of expression in shiverer mutant mice. Cell 34: 799-806, 1983.
[0032264]22852.Roach, A.; Takahashi, N.; Pravtcheva, D.; Ruddle, F.; Hood, L. : Chromosomal mapping of mouse myelin basic protein gene and structure and transcription of the partially deleted gene in shiverer mutant mice. Cell 42: 149-155, 1985.
[0032265]22853.Saxe, D. F.; Takahashi, N.; Hood, L.; Simon, M. I.: Localization of the human myelin basic protein gene (MBP) to region 18q22-qter by in situ hybridization. Cytogenet. Cell Genet. 39: 246-249, 1985.
[0032266]22854.Sheremata, W.; Cosgrove, J. B. R.; Hylar, E. H.: Cellular hypersensitivity to basic myelin (A1) protein and clinical multiple sclerosis. New Eng. J. Med. 291: 14-17, 1974.
[0032267]22855.Sidman, R.: Personal Communication. Boston, Mass. 1983.
[0032268]22856.Sidman, R. L.; Conover, C. S.; Carson, J. H.: Shiverer gene maps near the distal end of chromosome 18 in the house mouse. Cytogenet. Cell Genet. 39: 241-245, 1985.
[0032269]22857.Sparkes, R. S.; Mohandas, T.; Heinzmann, C.; Roth, H. J.; Klisak, I.; Campagnoni, A. T.: Assignment of the myelin basic protein gene to human chromosome 18q22-qter. Hum. Genet. 75: 147-150, 1987.
[0032270]22858.Takahashi, N.; Roach, A.; Teplow, D. B.; Prusiner, S. B.; Hood, L.: Cloning and characterization of the myelin basic protein gene from mouse: one gene can encode both 14 kd and 18.5 kd MBPs by alternate use of exons. Cell 42: 139-148, 1985.
[0032271]22859.Eiberg, H.; Mohr, J.; Nielsen, L. S.; Simonsen, N.: Genetics and linkage relationships of the C3 polymorphism: discovery of C3-Se linkage and assignment of LES-C3-DM-Se-PEPD-Lu synteny to chromosome 19. Clin. Genet. 24: 159-170, 1983.
[0032272]22860.Barouch, L. A.; Harrison, R. W.; Skaf, M. W.; Rosas, G. O.; Cappola, T. P.; Kobeissi, Z. A.; Hobai, I. A.; Lemmon, C. A.; Burnett, A. L.; O'Rourke, B.; Rodriguez, E. R.; Huang, P. L.; Lima, J. A. C.; Berkowitz, D. E.; Hare, J. M.: Nitric oxide regulates the heart by spatial confinement of nitric oxide synthase isoforms. Nature 416: 337-340, 2002.
[0032273]22861.Dimmeler, S.; Fleming, I.; Fisslthaler, B.; Hermann, C.; Busse, R.; Zeiher, A. M.: Activation of nitric oxide synthase in endothelial cells by Akt-dependent phosphorylation. Nature 399: 601-605, 1999.
[0032274]22862.Fulton, D.; Gratton, J.-P.; McCabe, T. J.; Fontana, J.; Fujio, Y.; Walsh, K.; Franke, T. F.; Papapetropoulos, A.; Sessa, W. C.: Regulation of endothelium-derived nitric oxide production by the protein kinase Akt. Nature 399: 597-601, 1999.
[0032275]22863.Kruh, G. D.; King, C. R.; Kraus, M. H.; Popescu, N. C.; Amsbaugh, S. C.; McBride, W. O.; Aaronson, S. A.: A novel human gene closely related to the abl proto-oncogene. Science 234: 1545-1548, 1986.
[0032276]22864.Audrezet, M.-P.; Chen, J.-M.; Le Marechal, C.; Ruszniewski, P.; Robaszkiewicz, M.; Raguenes, O.; Quere, I.; Scotet, V.; Ferec, C. : Determination of the relative contribution of three genes--the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene--to the etiology of idiopathic chronic pancreatitis. Europ. J. Hum. Genet. 10: 100-106, 2002.
[0032277]22865.Arnaud, J.; Vavrusa, B.; Sevin, J.; Constans, J.: Human red-cell acid phosphatase (ACP1): a new mutant (ACP1*KUK) detected by isoelectric focusing, kinetics of thermostability and substrate activity. Hum. Hered. 39: 288-293, 1989.
[0032278]22866.Arnaud, J.; Vavrusa, B.; Wiederanders, G.; Constans, J.: Human red-cell acid phosphatase (ACP1): kinetic and thermodynamic characterization of the KUK variant. Hum. Hered. 42: 140-142, 1992.
[0032279]22867.Beemer, F. A.; van der Heiden, C.; Van Hemel, J. O.; Jansen, M. : Letter to the editors. (Letter) Clin. Genet. 24: 151, 1983.
[0032280]22868.Berg, K.: Close linkage between APOB and ACP1 excluded. (Abstract) Cytogenet. Cell Genet. 46: 580, 1987.
[0032281]22869.Bottini, E.; Carapella, E.; Orzalesi, M.; Lucarelli, P.; Pascone, R.; Gloria-Bottini, F.; Coccia, M.: Is there a role of erythrocyte acid phosphatase polymorphism in intrauterine development? (Letter) Am. J. Hum. Genet. 32: 764-767, 1980.
[0032282]22870.Seldin, M. F.; Kruh, G. D.: Mapping of Abll within a conserved linkage group on distal mouse chromosome 1 syntenic with human chromosome 1 using an interspecific cross. Genomics 4: 221-223, 1989.
[0032283]22871.Bello, M. J.; Salagnon, N.; Rey, J. A.; Guichaoua, M. R.; Berge-Lefranc, J. L.; Jordan, B. R.; Luciani, J. M.: Precise in situ localization of NCAM, ETS1, and D11S29 on human meiotic chromosomes. Cytogenet. Cell Genet. 52: 7-10, 1989.
[0032284]22872.Concannon, P.; Malhotra, U.; Charmley, P.; Reynolds, J.; Lange, K.; Gatti, R. A.: The ataxia-telangiectasia gene (ATA) on chromosome 11 is distinct from the ETS-1 gene. Am. J. Hum. Genet. 46: 789-794, 1990.
[0032285]22873.Gold, D. P.; van Dongen, J. J. M.; Morton, C. C.; Bruns, G. A. P.; van den Elsen, P.; Geurts van Kessel, A. H. M.; Terhorst, C.: The gene encoding the epsilon subunit of the T3/T-cell receptor complex maps to chromosome 11 in humans and to chromosome 9 in mice. Proc. Nat. Acad. Sci. 84: 1664-1668, 1987.
[0032286]22874.Ohtani, N.; Zebedee, Z.; Huot, T. J. G.; Stinson, J. A.; Sugimoto, M.; Ohashi, Y.; Sharrocks, A. D.; Peters, G.; Hara, E.: Opposing effects of Ets and Id proteins on p16(INK4A) expression during cellular senescence. Nature 409: 1067-1070, 2001.
[0032287]22875.Sacchi, N.; Watson, D. K.; Geurts van Kessel, A. H. M.; Hagemeijer, A.; Kersey, J.; Drabkin, H. D.; Patterson, D.; Papas, T. S.: Hu-ets-1 and Hu-ets-2 genes are transposed in acute leukemias with (4;11) and (8;21) translocations. Science 231: 379-382, 1986.
[0032288]22876.Watson, D. K.; McWilliams-Smith, M. J.; Kozak, C.; Reeves, R.; Gearhart, J.; Nunn, M. F.; Nash, W.; Fowle, J. R., III; Duesberg, P.; Papas, T. S.; O'Brien, S. J.: Conserved chromosomal positions of dual domains of the ets protooncogene in cats, mice, and humans. Proc. Nat. Acad. Sci. 83: 1792-1796, 1986.
[0032289]22877.Watson, D. K.; McWilliams-Smith, M. J.; Nunn, M. F.; Duesberg, P. H.; O'Brien, S. J.; Papas, T. S.: The ets sequence from the transforming gene of avian erythroblastosis virus, E26, has unique domains on human chromosomes 11 and 21: both loci are transcriptionally active. Proc. Nat. Acad. Sci. 82: 7294-7298, 1985.
[0032290]22878.Bellacosa, A.; Franke, T. F.; Gonzalez-Portal, M. E.; Datta, K.; Taguchi, T.; Gardner, J.; Cheng, J. Q.; Testa, J. R.; Tsichlis, P. N.: Structure, expression and chromosomal mapping of c-akt: relationship to v-akt and its implications. Oncogene 8: 745-754, 1993.
[0032291]22879.Brunet, A.; Bonni, A.; Zigmond, M. J.; Lin, M. Z.; Juo, P.; Hu, L. S.; Anderson, M. J.; Arden, K. C.; Blenis, J.; Greenberg, M. E. : Akt promotes cell survival by phosphorylating and inhibiting a Forkhead transcription factor. Cell 96: 857-868, 1999.
[0032292]22880.Chen, W. S.; Xu, P.-Z.; Gottlob, K.; Chen, M.-L.; Sokol, K.; Shiyanova, T.; Roninson, I.; Weng, W.; Suzuki, R.; Tobe, K.; Kadowaki, T.; Hay, N.: Growth retardation and increased apoptosis in mice with homozygous disruption of the akt1 gene. Genes Dev. 15: 2203-2208, 2001.
[0032293]22881.Condorelli, G.; Drusco, A.; Stassi, G.; Bellacosa, A.; Roncarati, R.; Iaccarino, G.; Russo, M. A.; Gu, Y.; Dalton, N.; Chung, C.; Latronico, M. V. G.; Napoli, C.; Sadoshima, J.; Croce, C. M.; Ross, J., Jr.: Akt induces enhanced myocardial contractility and cell size in vivo in transgenic mice. Proc. Nat. Acad. Sci. 99: 12333-12338, 2002.
[0032294]22882.Delettre, C.; Lenaers, G.; Griffoin, J.-M.; Gigarel, N.; Lorenzo, C.; Belenguer, P.; Pelloquin, L.; Grosgeorge, J.; Turc-Carel, C.; Perret, E.; Astarie-Dequeker, C.; Lasquellec, L.; Arnaud, B.; Ducommun, B.; Kaplan, J.; Hamel, C. P.: Nuclear gene OPA1, encoding a mitochondrial dynaminrelated protein, is mutated in dominant optic atrophy. Nature Genet. 26: 207-210, 2000.
[0032295]22883.Curry, C. J. R.; Magenis, R. E.; Brown, M.; Lanman, J. T., Jr.; Tsai, J.; O'Lague, P.; Goodfellow, P.; Mohandas, T.; Bergner, E. A.; Shapiro, L. J.: Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome. New Eng. J. Med. 311: 1010-1015, 1984.
[0032296]22884.Bick, D.; Curry, C. J. R.; McGill, J. R.; Schorderet, D. F.; Bux, R. C.; Moore, C. M.: Male infant with ichthyosis, Kallmann syndrome, chondrodysplasia punctata, and an Xp chromosome deletion. Am. J. Med. Genet. 33: 100-107, 1989.
[0032297]22885.Marlhens, F.; Chelly, J.; Kaplan, J. C.; Lefrancois, D.; Harpey, J. P.; Dutrillaux, B.: Familial deletion of Xp21.2 with glycerol kinase deficiency and congenital adrenal hypoplasia. Hum. Genet. 77: 379-383, 1987.
[0032298]22886.Lin, T.; Orrison, B. M.; Suchy, S. F.; Lewis, R. A.; Nussbaum, R. L.: Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients. Molec. Genet. Metab. 64: 58-61, 1998.
[0032299]22887.Poustka, A.; Dietrich, A.; Langenstein, G.; Toniolo, D.; Warren, S. T.; Lehrach, H.: Physical map of human Xq27-qter: localizing the region of the fragile X mutation. Proc. Nat. Acad. Sci. 88: 8302-8306, 1991.
[0032300]22888.Ma, K.; Sharkey, A.; Kirsch, S.; Vogt, P.; Keil, R.; Hargreave, T. B.; McBeath, S.; Chandley, A. C.: Towards the molecular localisation of the AZF locus: mapping of microdeletions in azoospermic men within 14 subintervals of interval 6 of the human Y chromosome. Hum. Molec. Genet. 1: 29-33, 1992.
[0032301]22889.Adam, A.; Tippett, P.; Gavin, J.; Noades, J.; Sanger, R.; Race, R. R.: The linkage relation of Xg to G6PD in Israelis: the evidence of a second series of families. Am. J. Hum. Genet. 30: 211-218, 1966.
[0032302]22890.Ahluwalia, A.; Corcoran, C. M.; Vulliamy, T. J.; Ishwad, C. S.; Naidu, J. M.; Argusti, A.; Stevens, D. J.; Mason, P. J.; Luzzatto, L.: G6PD Kalyan and G6PD Kerala; two deficient variants in India caused by the same 317 glu-to-lys mutation. Hum. Molec. Genet. 3: 209-210, 1992.
[0032303]22891.Aksoy, K.; Yuregir, G. T.; Dikmen, N.; Unlukurt, I.: Three new G6PD variants, G6PD Adana, G6PD Samandag, and G6PD Balcali in Cukurova, Turkey. Hum. Genet. 76: 199-201, 1987.
[0032304]22892.Alfinito, F.; Cimmino, A.; Ferraro, F.; Cubellis, M. V.; Vitagliano, L.; Francese, M.; Zagari, A.; Rotoli, B.; Filosa, S.; Martini, G. : Molecular characterization of G6PD deficiency in Southern Italy: heterogeneity, correlation genotype-phenotype and description of a new variant (G6PD Neapolis). Brit. J. Haemat. 98: 41-46, 1997.
[0032305]22893.Alperin, J. B.; Mills, G. C.: New variants of glucose-6-phosphate dehydrogenase (G6PD). Clin. Res. 20: 76, 1972.
[0032306]22894.Azevedo, E.; Kirkman, H. N.; Morrow, A. C.; Motulsky, A. G.: Variants of red cell glucose-6-phosphate dehydrogenase among Asiatic Indians. Ann. Hum. Genet. 31: 373-379, 1968.
[0032307]22895.Azevedo, E. S.; Yoshida, A.: Brazilian variant of glucose-6-phosphate dehydrogenase (GD Minas Gerais). Nature 222: 380-382, 1969.
[0032308]22896.Babalola, A. O. G.; Beetlestone, J. G.; Luzzatto, L.: Genetic variants of human erythrocyte glucose-6-phosphate dehydrogenase: kinetic and thermodynamic parameters of variants A, B, and A- in relation to quaternary structure. J. Biol. Chem. 251: 2993-3002, 1976.
[0032309]22897.Balinsky, D.; Cayanis, E.; Carter, G.; Jenkins, T.; Bersohn, I. : A new variant of human erythrocyte glucose-6-phosphate dehydrogenase: G6PD Port Elizabeth. Int. J. Biochem. 4: 235-244, 1973.
[0032310]22898.Balinsky, D.; Gomperts, E.; Cayanis, E.; Jenkins, T.; Bryer, D.; Bersohn, I.; Metz, J.: Glucose 6-phosphate dehydrogenase Johannesburg: a new variant with reduced activity in a patient with congenital non-spherocytic haemolytic anaemia. Brit. J. Haemat. 25: 385-392, 1973.
[0032311]22899.Araten, D. J.; Nafa, K.; Pakdeesuwan, K.; Luzzatto, L.: Clonal populations of hematopoietic cells with paroxysmal nocturnal hemoglobinuria genotype and phenotype are present in normal individuals. Proc. Nat. Acad. Sci. 96: 5209-5214, 1999.
[0032312]22900.Bessler, M.; Mason, P.; Hillmen, P.; Luzzatto, L.: Somatic mutations and cellular selection in paroxysmal nocturnal haemoglobinuria. Lancet 343: 951-953, 1994.
[0032313]22901.Bessler, M.; Mason, P. J.; Hillmen, P.; Miyata, T.; Yamada, N.; Takeda, J.; Luzzatto, L.; Kinoshita, T.: Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG-A gene. EMBO J. 13: 110-117, 1994.
[0032314]22902.Brodsky, R. A.; Vala, M. S.; Barber, J. P.; Medof, M. E.; Jones, R. J.: Resistance to apoptosis caused by PIG-A gene mutations in paroxysmal nocturnal hemoglobinuria. Proc. Nat. Acad. Sci. 94: 8756-8760, 1997.
[0032315]22903.Hillmen, P.; Lewis, S. M.; Bessler, M.; Luzzatto, L.; Dacie, J. V.: Natural history of paroxysmal nocturnal hemoglobinuria. New Eng. J. Med. 333: 1253-1258, 1995.
[0032316]22904.Hirose, S.; Mohney, R. P.; Mutka, S. C.; Ravi, L.; Singleton, D. R.; Perry, G.; Tartakoff, A. M.; Medof, M. E.: Derivation and characterization of glycoinositol-phospholipid anchordefective human K562 cell clones. J. Biol. Chem. 267: 5272-5278, 1992.
[0032317]22905.Hirose, S.; Ravi, L.; Prince, G. M.; Rosenfeld, M. G.; Silber, R.; Andresen, S. W.; Hazra, S. V.; Medof, M. E.: Synthesis of mannosylglucosaminylinositol phospholipids in normal but not paroxysmal nocturnal hemoglobinuria cells. Proc. Nat. Acad. Sci. 89: 6025-6029, 1992.
[0032318]22906.Horikawa, K.; Kawaguchi, T.; Ishihara, S.; Nagakura, S.; Hidaka, M.; Kagimoto, T.; Mitsuya, H.; Nakakuma, H.: Frequent detection of T cells with mutations of the hypoxanthine-guanine phosphoribosyltransferase gene in patients with paroxysmal nocturnal hemoglobinuria. Blood 99: 24-29, 2002.
[0032319]22907.Iida, Y.; Takeda, J.; Miyata, T.; Inoue, N.; Nishimura, J.; Kitani, T.; Maeda, K.; Kinoshita, T.: Characterization of genomic PIG-A gene: a gene for glycosylphosphatidylinositol-anchor biosynthesis and paroxysmal nocturnal hemoglobinuria. Blood 83: 3126-3131, 1994.
[0032320]22908.Kawagoe, K.; Takeda, J.; Endo, Y.; Kinoshita, T.: Molecular cloning of murine Pig-a, a gene for GPI-anchor biosynthesis, and demonstration of interspecies conservation of its structure, function, and genetic locus. Genomics 23: 566-574, 1994.
[0032321]22909.Keller, P.; Tremml, G.; Rosti, V.; Bessler, M.: X inactivation and somatic cell selection rescue female mice carrying a Piga-null mutation. Proc. Nat. Acad. Sci. 96: 7479-7483, 1999.
[0032322]22910.Luzzatto, L.; Bessler, M.: The dual pathogenesis of paroxysmal nocturnal hemoglobinuria. Curr. Opin. Hemat. 3: 101-110, 1996.
[0032323]22911.Luzzatto, L.; Bessler, M.; Rotoli, B.: Somatic mutations in paroxysmal nocturnal hemoglobinuria: a blessing in disguise? Cell 88: 1-4, 1997.
[0032324]22912.Maugard, C.; Margueritte, G.; Tuffery, S.; Rabesandratana, H.; Demaille, J.; Claustres, M.: Recurrent PIG-A mutation (IVS5+1G-A) in a paediatric case of paroxysmal nocturnal haemoglobinuria: detection by the protein truncation test. Brit. J. Haemat. 98: 21-24, 1997.
[0032325]22913.Miyata, T.; Takeda, J.; Iida, Y.; Yamada, N.; Inoue, N.; Takahashi, M.; Maeda, K.; Kitani, T.; Kinoshita, T.: The cloning of PIG-A, a component in the early step of GPI-anchor biosynthesis. Science 259: 1318-1320, 1993.
[0032326]22914.Miyata, T.; Yamada, N.; Iida, Y.; Nishimura, J.; Takeda, J.; Kitani, T.; Kinoshita, T.: Abnormalities of PIG-A transcripts in granulocytes from patients with paroxysmal nocturnal hemoglobinuria. New Eng. J. Med. 330: 249-255, 1994.
[0032327]22915.Nafa, K.; Bessler, M.; Castro-Malaspina, H.; Jhanwar, S.; Luzzatto, L.: The spectrum of somatic mutations in the PIG-A gene in paroxysmal nocturnal hemoglobinuria includes large deletions and small duplications. Blood Cells Molec. Dis. 24: 370-384, 1998.
[0032328]22916.Nafa, K.; Bessler, M.; Deeg, H. J.; Luzzatto, L.: New somatic mutation in the PIG-A gene emerges at relapse of paroxysmal nocturnal hemoglobinuria. Blood 92: 3422-3427, 1998.
[0032329]22917.Nafa, K.; Mason, P. J.; Hillmen, P.; Luzzatto, L.; Bessler, M. : Mutations in the PIG-A gene causing paroxysmal nocturnal hemoglobinuria are mainly of the frameshift type. Blood 86: 4650-4655, 1995.
[0032330]22918.Nagarajan, S.; Brodsky, R. A.; Young, N. S.; Medof, M. E.: Genetic defects underlying paroxysmal nocturnal hemoglobinuria that arises out of aplastic anemia. Blood 86: 4656-4661, 1995.
[0032331]22919.Nagarajan, S.; Brown, C. J.; Medof, M. E.: Identification of a PIG-A related processed gene on chromosome 12. Hum. Genet. 95: 691-697, 1995.
[0032332]22920.McCabe, E. R. B.: Personal Communication. Denver, Colo. 10/9/1985.
[0032333]22921.McCabe, E. R. B.; Fennessey, P. V.; Guggenheim, M. A.; Miles, B. S.; Bullen, W. W.; Sceats, D. J.; Goodman, S. I.: Human glycerol kinase deficiency with hyperglycerolemia and glyceroluria. Biochem. Biophys. Res. Commun. 78: 1327-1333, 1977.
[0032334]22922.Renier, W. O.; Nabben, F. A. E.; Hustinx, T. W. J.; Veerkamp, J. H.; Otten, B. J.; ter Laak, H. J.; ter Haar, B. G. A.; Gabreels, F. J. M.: Congenital adrenal hypoplasia, progressive muscular dystrophy and severe mental retardation, in association with glycerol kinase deficiency, in male sibs. Clin. Genet. 24: 449-457, 1983.
[0032335]22923.Rose, C. I.; Haines, D. S. M.: Familial hyperglycerolemia. J. Clin. Invest. 61: 163-170, 1978.
[0032336]22924.Saito, F.; Goto, J.; Kakinuma, H.; Nakamura, F.; Murayama, S.; Nakano, I.; Tonomura, A.: Inherited Xp21 deletion in a boy with complex glycerol kinase deficiency syndrome. (Letter) Clin. Genet. 29: 92-93, 1986.
[0032337]22925.Sargent, C. A.; Affara, N. A.; Bentley, E.; Pelmear, A.; Bailey, D. M. D.; Davey, P.; Dow, D.; Leversha, M.; Aplin, H.; Besley, G. T. N.; Ferguson-Smith, M. A.: Cloning of the X-linked glycerol kinase deficiency gene and its identification by sequence comparison to the Bacillus subtilis homologue. Hum. Molec. Genet. 2: 97-106, 1993.
[0032338]22926.Sargent, C. A.; Kidd, A.; Moore, S.; Dean, J.; Besley, G. T. N.; Affara, N. A.: Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype:phenotype correlation. J. Med. Genet. 37: 434-441, 2000.
[0032339]22927.Sargent, C. A.; Young, C.; Marsh, S.; Ferguson-Smith, M. A.; Affara, N. A.: The glycerol kinase gene family: structure of the Xp gene, and related intronless retroposons. Hum. Molec. Genet. 3: 1317-1324, 1994.
[0032340]22928.Sjarif, D. R.; Ploos van Amstel, J. K.; Duran, M.; Beemer, F. A.; Poll-The, B. T.: Isolated and contiguous glycerol kinase gene disorders: a review. J. Inherit. Metab. Dis. 23: 529-547, 2000.
[0032341]22929.Sjarif, D. R.; Sinke, R. J.; Duran, M.; Beemer, F. A.; Kleijer, W. J.; Ploos van Amstel, J. K.; Poll-The, B. T.: Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency. J. Med. Genet. 35: 650-656, 1998.
[0032342]22930.von Petrykowski, W.; Beckmann, R.; Bohm, N.; Ketelsen, U.-P.; Ropers, H. H.; Sauer, M.: Adrenal insufficiency, myopathic hypotonia, severe psychomotor retardation, failure to thrive, constipation and bladder ectasia in 2 brothers: adrenomyodystrophy. Helv. Paediat. Acta 37: 387-400, 1982.
[0032343]22931.Walker, A. P.; Muscatelli, F.; Monaco, A. P.: Isolation of the human Xp21 glycerol kinase gene by positional cloning. Hum. Molec. Genet. 2: 107-114, 1993.
[0032344]22932.Walker, A. P.; Muscatelli, F.; Stafford, A. N.; Chelly, J.; Dahl, N.; Blomquist, H. K.; Delanghe, J.; Willems, P. J.; Steinmann, B.; Monaco, A. P.: Mutations and phenotype in isolated glycerol kinase deficiency. Am. J. Hum. Genet. 58: 1205-1211, 1996.
[0032345]22933.Wieringa, B.; Hustinx, T.; Scheres, J.; Hofker, M.; Schepens, J.; Ropers, H. H.; ter Haar, B.: Glycerol kinase deficiency syndrome explained as X-chromosomal deletion. (Abstract) Cytogenet. Cell Genet. 40: 777 only, 1985.
[0032346]22934.Wieringa, B.; Hustinx, T.; Scheres, J.; Renier, W.; ter Haar, B.: Complex glycerol kinase deficiency syndrome explained as X-chromosomal deletion. (Letter) Clin. Genet. 27: 522-523, 1985.
[0032347]22935.Willard, H. F.: Cloning of the X-linked glycerol kinase gene. Hum. Molec. Genet. 2: 95-96, 1993.
[0032348]22936.Zhang, Y.-H.; Dipple, K. M.; Vilain, E.; Huang, B.-L.; Finlayson, G.; Therrell, B. L.; Worley, K.; Deininger, P.; McCabe, E. R. B.: AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency. Hum. Mutat. 15: 316-323, 2000.
[0032349]22937.Balinsky, D.; Rootman, A. J.; Nurse, G. T.; Cayanis, E.; Lane, A.; Jenkins, T.; Bersohn, I.: G6PD Kuanyama: a new variant of human erythrocyte glucose 6-phosphate dehydrogenase showing slower than normal electrophoretic mobility. S. Afr. J. Med. Sci. 39: 5-13, 1974.
[0032350]22938.Barretto, O. C.; Nonoyama, K.: Gd(+) Cuiaba, a new rare glucose-6-phosphate dehydrogenase variant presenting normal activity. Hum. Genet. 77: 201-202, 1987.
[0032351]22939.Kornak, U.; Kasper, D.; Bosl, M. R.; Kaiser, E.; Schweizer, M.; Schulz, A.; Friedrich, W.; Delling, G.; Jentsch, T. J.: Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man. Cell 104: 205-215, 2001.
[0032352]22940.Kornak, U.; Schulz, A.; Friedrich, W.; Uhlhaas, S.; Kremens, B.; Voit, T.; Hasan, C.; Bode, U.; Jentsch, T. J.; Kubisch, C.: Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis. Hum. Molec. Genet. 9: 2059-2063, 2000.
[0032353]22941.Lowe, C. U.: Oculo-cerebral-renal syndrome. Maandschr. Kindergeneesk. 28: 77-80, 1960.
[0032354]22942.Lowe, C. U.; Terrey, M.; MacLachlan, E. A.: Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation. Am. J. Dis. Child. 83: 164-184, 1952.
[0032355]22943.Martin, V. A. F.; Carson, N. A. J.: Inborn metabolic disorders with associated ocular lesions in Northern Ireland. Trans. Ophthal. Soc. U.K. 87: 847-870, 1967.
[0032356]22944.Matsuda, I.; Sugai, M.; Kajii, T.: Ornithine loading test in Lowe's syndrome. J. Pediat. 77: 127-129, 1970.
[0032357]22945.Matsuda, I.; Takeda, T.; Sugai, M.; Matsuura, N.: Oculocerebrorenal syndrome. Am. J. Dis. Child. 117: 205-212, 1969.
[0032358]22946.McCance, R. A.; Matheson, W. J.; Gresham, G. A.; Elkinton, J. R.: The cerebroocular-renal dystrophies: a new variant. Arch. Dis. Child. 35: 240-249, 1960.
[0032359]22947.Monnier, N.; Satre, V.; Lerouge, E.; Berthoin, F.; Lunardi, J. : OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic counseling. Hum. Mutat. 16: 157-165, 2000.
[0032360]22948.Mueller, O. T.; Hartsfield, J. K., Jr.; Gallardo, L. A.; Essig, Y.-P.; Miller, K. L.; Papenhausen, P. R.; Tedesco, T. A.: Lowe oculocerebrorenal syndrome in a female with a balanced X;20 translocation: mapping of the X chromosome breakpoint. Am. J. Hum. Genet. 49: 804-810, 1991.
[0032361]22949.Nelson, D. L.; Ballabio, A.; Victoria, M. F.; Pieretti, M.; Bies, R. D.; Gibbs, R. A.; Maley, J. A.; Chinault, A. C.; Webster, T. D.; Caskey, C. T.: Alu-primed polymerase chain reaction for regional assignment of 110 yeast artificial chromosome clones from the human X chromosome: identification of clones associated with a disease locus. Proc. Nat. Acad. Sci. 88: 6157-6161, 1991.
[0032362]22950.Oetliker, O.; Rossi, E.: The influence of extracellular fluid volume on the renal bicarbonate threshold: a study of two children with Lowe's syndrome. Pediat. Res. 3: 140-148, 1969.
[0032363]22951.Olivos-Glander, I. M.; Janne, P. A.; Nussbaum, R. L.: The oculocerebrorenal syndrome gene product is a 105-kD protein localized to the Golgi complex. Am. J. Hum. Genet. 57: 817-823, 1995.
[0032364]22952.Pallisgaard, G.; Goldschmidt, E.: The oculo-cerebro-renal syndrome of Lowe in four generations of one family. Acta Paediat. Scand. 60: 146-148, 1971.
[0032365]22953.Reilly, D. S.; Lewis, R. A.; Ledbetter, D. H.; Nussbaum, R. L. : Tightly linked flanking markers for the Lowe oculocerebrorenal syndrome, with application to carrier assessment. Am. J. Hum. Genet. 42: 748-755, 1988.
[0032366]22954.Reilly, D. S.; Lewis, R. A.; Nussbaum, R. L.: Genetic and physical mapping of Xq24-q26 markers flanking the Lowe oculocerebrorenal syndrome. Genomics 8: 62-70, 1990.
[0032367]22955.Richards, W.; Donnell, G. N.; Wilson, W. A.; Stowens, D.; Perry, T.: The oculocerebro-renal syndrome of Lowe. Am. J. Dis. Child. 109: 185-203, 1965.
[0032368]22956.Roschinger, W.; Muntau, A. C.; Rudolph, G.; Roscher, A. A.; Kammerer, S.: Carrier assessment in families with Lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination. Molec. Genet. Metab. 69: 213-222, 2000.
[0032369]22957.Satre, V.; Monnier, N.; Berthoin, F.; Ayuso, C.; Joannard, A.; Jouk, P.-S.; Lopez-Pajares, I.; Megabarne, A.; Philippe, H. J.; Plauchu, H.; Torres, M. L.; Lunardi, J.: Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene. Am. J. Hum. Genet. 65: 68-76, 1999.
[0032370]22958.Silver, D. N.; Lewis, R. A.; Ledbetter, D. H.; Bobrow, M.; Nussbaum, R. L.: Identification of tightly-linked flanking markers for Lowe syndrome. (Abstract) Cytogenet. Cell Genet. 46: 692 only, 1987.
[0032371]22959.Silver, D. N.; Lewis, R. A.; Nussbaum, R. L.: Mapping the Lowe oculocerebrorenal syndrome to Xq24-q26 by use of restriction fragment length polymorphisms. J. Clin. Invest. 79: 282-285, 1987.
[0032372]22960.Streiff, E. B.; Straub, W.; Golay, L.: Les manifestations oculaires du syndrome de Lowe. Ophthalmologica 135: 632-639, 1958.
[0032373]22961.Suchy, S. F.; Lin, T.; Horwitz, J. A.; O'Brien, W. E.; Nussbaum, R. L.: First report of prenatal biochemical diagnosis of Lowe syndrome. Prenatal Diag. 18: 1117-1121, 1998.
[0032374]22962.Svorc, J.; Masopust, J.; Komarkova, A.; Macek, M.; Hyanek, J. : Oculocerebrorenal syndrome in a female child. Am. J. Dis. Child. 114: 186-190, 1967.
[0032375]22963.Tripathi, R.; Cibis, G. W.; Harris, D. J.; Tripathi, B.: Lowe's syndrome. Birth Defects Orig. Art. Ser. 18(6): 629-644, 1982.
[0032376]22964.Wadelius, C.; Fagerholm, P.; Pettersson, U.; Anneren, G.: Lowe oculocerebrorenal syndrome: DNA-based linkage of the gene to Xq24-q26, using tightly linked flanking markers and the correlation to lens examination in carrier diagnosis. Am. J. Hum. Genet. 44: 241-247, 1989.
[0032377]22965.Wilson, W. A.; Richards, W.; Donnell, G. N.: Oculo-cerebral-renal syndrome of Lowe: a review of eight cases noting the genetic inheritance. Arch. Ophthal. 70: 5-11, 1963.
[0032378]22966.Witzleben, C. L.; Schoen, E. J.; Tu, W. H.; McDonald, L. W.: Progressive morphologic renal changes in the oculo-cerebro-renal syndrome of Lowe. Am. J. Med. 44: 319-324, 1968.
[0032379]22967.Zhang, X.; Jefferson, A. B.; Auethavekiat, V.; Majerus, P. W. : The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5-bisphosphate 5-phosphatase. Proc. Nat. Acad. Sci. 92: 4853-4856, 1995.
[0032380]22968.Schram, A. W.; Goldfischer, S.; van Roermund, C. W. T.; Brouwer-Kelder, E. M.; Collins, J.; Hashimoto, T.; Heymans, H. S. A.; van den Bosch, H.; Schutgens, R. B. H.; Tager, J. M.; Wanders, R. J. A.: Human peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency. Proc. Nat. Acad. Sci. 84: 2494-2496, 1987.
[0032381]22969.Suzuki, Y.; Shimozawa, N.; Yajima, S.; Tomatsu, S.; Kondo, N.; Nakada, Y.; Akaboshi, S.; Iai, M.; Tanabe, Y.; Hashimoto, T.; Wanders, R. J. A.; Schutgens, R. B. H.; Moser, H. W.; Orii, T.: Novel subtype of peroxisomal acyl-CoA oxidase deficiency and bifunctional enzyme deficiency with detectable enzyme protein: identification by means of complementation analysis. Am. J. Hum. Genet. 54: 36-43, 1994.
[0032382]22970.Rosenberg, C. L.; Wong, E.; Petty, E. M.; Bale, A. E.; Tsujimoto, Y.; Harris, N. L.; Arnold, A.: PRAD1, a candidate BCL1 oncogene: mapping and expression in centrocytic lymphoma. Proc. Nat. Acad. Sci. 88: 9638-9642, 1991.
[0032383]22971.Tsujimoto, Y.; Jaffe, E.; Cossman, J.; Gorham, J.; Nowell, P. C.; Croce, C. M.: Clustering of breakpoints on chromosome 11 in human B-cell neoplasms with the t(11;14) chromosome translocation. Nature 315: 340-343, 1985.
[0032384]22972.Tsujimoto, Y.; Yunis, J.; Onorato-Showe, L.; Erikson, J.; Nowell, P. C.; Croce, C. M.: Molecular cloning of the chromosomal breakpoint of B-cell lymphomas and leukemias with the t(11;14) chromosome translocation. Science 224: 1403-1406, 1984.
[0032385]22973.Barbany, G.; Hoglund, M.; Simonsson, B.: Complete molecular remission in chronic myelogenous leukemia after imatinib therapy. (Letter) New Eng. J. Med. 347: 539-540, 2002.
[0032386]22974.Budarf, M.; Canaani, E.; Emanuel, B. S.: Linear order of the four BCR-related loci in 22q11. Genomics 3: 168-171, 1988.
[0032387]22975.Castellanos, A.; Pintado, B.; Weruaga, E.; Arevalo, R.; Lopez, A.; Orfao, A.; Sanchez-Garcia, I.: A BCR-ABL(p190) fusion gene made by homologous recombination causes B-cell acute lymphoblastic leukemias in chimeric mice with independence of the endogenous bcr product. Blood 90: 2168-2174, 1997. 1. Brunning, R. D.: Philadelphia chromosome positive leukemia. Hum. Path. 11: 307-309, 1980.
[0032388]22976.Chissoe, S. L.; Bodenteich, A.; Wang, Y.-F.; Wang, Y.-P.; Burian, D.; Clifton, S. W.; Crabtree, J.; Freeman, A.; Iyer, K.; Jian, L.; Ma, Y.; McLaury, H.-J.; Pan, H.-Q.; Sarhan, O. H.; Toth, S.; Wang, Z.; Zhang, G.; Heisterkamp, N.; Groffen, J.; Roe, B. A.: Sequence and analysis of the human ABL gene, the BCR gene, and regions involved in the Philadelphia chromosomal translocation. Genomics 27: 67-82, 1995.
[0032389]22977.Court Brown, W. M.; Doll, R.: Mortality from cancer and other causes after radiotherapy for ankylosing spondylitis. Brit. Med. J. 2: 1327-1332, 1965.
[0032390]22978.Croce, C. M.; Huebner, K.; Isobe, M.; Fainstain, E.; Lifshitz, B.; Shtivelman, E.; Canaani, E.: Mapping of four distinct BCR-related loci to chromosome region 22q11: order of BCR loci relative to chronic myelogenous leukemia and acute lymphoblastic leukemia breakpoints. Proc. Nat. Acad. Sci. 84: 7174-7178, 1987.
[0032391]22979.Daley, G. Q.; Van Etten, R. A.; Baltimore, D.: Induction of chronic myelogenous leukemia in mice by the P210(bcr/abl) gene of the Philadelphia chromosome. Science 247: 824-830, 1990.
[0032392]22980.de Klein, A.; Geurts van Kessel, A.; Grosveld, G.; Bartram, C. R.; Hagemeijer, A.; Bootsma, D.; Spurr, N. K.; Heisterkamp, N.; Groffen, J.; Stephenson, J. R.: A cellular oncogene is translocated to the Philadelphia chromosome in chronic myelocytic leukaemia. Nature 300: 765-767, 1982.
[0032393]22981.Diekmann, D.; Brill, S.; Garrett, M. D.; Totty, N.; Hsuan, J.; Monfries, C.; Hall, C.; Lim, L.; Hall, A.: Bcr encodes a GTPase-activating protein for p21(rac). Nature 351: 400-402, 1991.
[0032394]22982.Druker, B. J.; Sawyers, C. L.; Kantarjian, H.; Resta, D. J.; Reese, S. F.; Ford, J. M.; Capdeville, R.; Talpaz, M.: Activity of a specific inhibitor of the BCR-ABL tyrosine kinase in the blast crisis of chronic myeloid leukemia and acute lymphoblastic leukemia with the Philadelphia chromosome. New Eng. J. Med. 344: 1038-1042, 2001.
[0032395]22983.Druker, B. J.; Talpaz, M.; Resta, D. J.; Peng, B.; Buchdunger, E.; Ford, J. M.; Lydon, N. B.; Kantarjian, H.; Capdeville, R.; Ohno-Jones, S.; Sawyers, C. L.: Efficacy and safety of a specific inhibitor of the BCR-ABL tyrosine kinase in chronic myeloid leukemia. New Eng. J. Med. 344: 1031-1037, 2001.
[0032396]22984.Emanuel, B. S.; Selden, J. R.; Wang, E.; Nowell, P. C.; Croce, C. M.: In situ hybridization and translocation breakpoint mapping. I. Non-identical 22q11 breakpoints for the t(9;22) of CML and the t(8;22) of Burkitt lymphoma. Cytogenet. Cell Genet. 38: 127-131, 1984.
[0032397]22985.Misrahi, M.; Meduri, G.; Pissard, S.; Bouvattier, C.; Beau, I.; Loosfelt, H.; Jolivet, A.; Rappaport, R.; Milgrom, E.; Bougneres, P.: Comparison of immunocytochemical and molecular features with the phenotype in a case of incomplete male pseudohermaphroditism associated with a mutation of the luteinizing hormone receptor. J. Clin. Endocr. Metab. 82: 2159-2165, 1997.
[0032398]22986.Perez-Palacios, G.; Scaglia, H. E.; Kofman, S.; Saavedra, D.; Ochoa, S.; Laraza, O.; Perez, A. E.: Inherited deficiency of gonadotropin receptor in Leydig cells: a new form of male pseudohermaphroditism. (Abstract) Am. J. Hum. Genet. 27: 71A, 1975.
[0032399]22987.Perez-Palacios, G.; Scaglia, H. E.; Kofman-Alfaro, S.; Saavedra, D.; Ochoa, S.; Larraza, O.; Perez, A. E.: Inherited male pseudohermaphroditism due to gonadotrophin unresponsiveness. Acta Endocr. 98: 148-155, 1981.
[0032400]22988.Rodien, P.; Cetani, F.; Costagliola, S.; Tonacchera, M.; Duprez, L.; Minegishi, T.; Govaerts, C.; Vassart, G.: Evidences for an allelic variant of the human LC/CG receptor rather than a gene duplication: functional comparison of wild-type and variant receptors. J. Clin. Endocr. Metab. 83: 4431-4434, 1998.
[0032401]22989.Rousseau-Merck, M. F.; Misrahi, M.; Atger, M.; Loosfelt, H.; Milgrom, E.; Berger, R.: Localization of the human luteinizing hormone/choriogonadotropin receptor gene (LHCGR) to chromosome 2p21. Cytogenet. Cell Genet. 54: 77-79, 1990.
[0032402]22990.Saldanha, P. H.; Arnhold, I. J. P.; Mendonca, B. B.; Bloise, W.; Toledo, S. P. A.: A clinico-genetic investigation of Leydig cell hypoplasia. Am. J. Med. Genet. 26: 337-344, 1987.
[0032403]22991.Schwartz, M.; Imperato-McGinley, J.; Peterson, R. E.; Cooper, G.; Morris, P. L.; MacGillivray, M.; Hensle, T.: Male pseudohermaphroditism secondary to an abnormality in Leydig cell differentiation. J. Clin. Endocr. Metab. 53: 123-127, 1981.
[0032404]22992.Segaloff, D. L.; Ascoli, M.: The lutropin/choriogonadotropin receptor: 4 years later. Endocr. Rev. 14: 324-347, 1993.
[0032405]22993.Shenker, A.; Laue, L.; Kosugi, S.; Merendino, J. J., Jr.; Minegishi, T.; Cutler, G. B., Jr.: A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty. Nature 365: 652-654, 1993.
[0032406]22994.Rosenthal, I. M.; Refetoff, S.; Rich, B.; Barnes, R. B.; Sunthornthepvarakul, T.; Parma, J.; Rosenfield, R. L.: Response to challenge with gonadotropin-releasing hormone agonist in a mother and her two sons with a constitutively activating mutation of the luteinizing hormone receptor--a clinical research center study. J. Clin. Endocr. Metab. 81: 3802-3806, 1996.
[0032407]22995.Stavrou, S. S.; Zhu, Y.-S.; Cai, L.-Q.; Katz, M. D.; Herrera, C.; Defillo-Ricart, M.; Imperato-McGinley, J.: A novel mutation of the human luteinizing hormone receptor in 46XY and 46XX sisters. J. Clin. Endocr. Metab. 83: 2091-2098, 1998.
[0032408]22996.Toledo, S. P. A.; Brunner, H. G.; Kraaij, R.; Post, M.; Dahia, P. L. M.; Hayashida, C. Y.; Kremer, H.; Themmen, A. P. N.: An inactivating mutation of the luteinizing hormone receptor causes amenorrhea in a 46,XX female. J. Clin. Endocr. Metab. 81: 3850-3854, 1996.
[0032409]22997.Tsai-Morris, C-H.; Geng, Y.; Buczko, E.; Dufau, M. L.: A novel human luteinizing hormone receptor gene. J. Clin. Endocr. Metab. 83: 288-291, 1998.
[0032410]22998.Wu, S.-M.; Chan, W.-Y.: Male pseudohermaphroditism due to inactivating luteinizing hormone receptor mutations. Arch. Med. Res. 30: 495-500, 1999.
[0032411]22999.Wu, S.-M.; Hallermeier, K. M.; Laue, L.; Brain, C.; Berry, A. C.; Grant, D. B.; Griffin, J. E.; Wilson, J. D.; Cutler, G. B., Jr.; Chan, W.-Y.: Inactivation of the luteinizing hormone/chorionic gonadotropin receptor by an insertional mutation in Leydig cell hypoplasia. Molec. Endocr. 12: 1651-1660, 1998.
[0032412]23000.Yano, K.; Hidaka, A.; Saji, M.; Polymeropoulos, M. H.; Okuno, A.; Kohn, L. D.; Cutler, G. B., Jr.: A sporadic case of male-limited precocious puberty has the same constitutively activating point mutation in luteinizing hormone/choriogonadotropin receptor gene as familial cases. J. Clin. Endocr. Metab. 79: 1818-1823, 1994.
[0032413]23001.Yano, K.; Kohn, L. D.; Saji, M.; Okuno, A.; Cutler, G. B., Jr. : Phe576 plays an important role in the secondary structure and intracellular signaling of the human luteinizing hormone/chorionic gonadotropin receptor. J. Clin. Endocr. Metab. 82: 2586-2591, 1997.
[0032414]23002.Yano, K.; Saji, M.; Hidaka, A.; Moriya, N.; Okuno, A.; Kohn, L. D.; Cutler, G. B.: A new constitutively activating point mutation in the luteinizing hormone/choriogonadotropin receptor gene in cases of male-limited precocious puberty. J. Clin. Endocr. 80: 1162-1168, 1995.
[0032415]23003.Zenteno, J. C.; Canto, P.; Kofman-Alfaro, S.; Mendez, J. P.: Evidence for genetic heterogeneity in male pseudohermaphroditism due to Leydig cell hypoplasia. J. Clin. Endocr. Metab. 84: 3803-3806, 1999.
[0032416]23004.Grandori, C.; Mac, J.; Siebelt, F.; Ayer, D. E.; Eisenman, R. N. : Myc-Max heterodimers activate a DEAD box gene and interact with multiple E box-related sites in vivo. EMBO J. 15: 4344-4357, 1996.
[0032417]23005.Deltas, C. C.: Mutations of the human polycystic kidney disease 2 (PKD2) gene. Hum. Mutat. 18: 13-24, 2001.
[0032418]23006.Elles, R. G.; Read, A. P.; Hodgkinson, K. A.; Watters, A.; Harris, R.: Recombination or heterogeneity: is there a second locus for adult polycystic kidney disease? J. Med. Genet. 27: 413-417, 1990.
[0032419]23007.Fossdal, R.; Boovarsson, M.; Asmundsson, P.; Ragnarsson, J.; Peters, D.; Breuning, M. H.; Jensson, O.: Icelandic families with autosomal dominant polycystic kidney disease: families unlinked to chromosome 16p13.3 revealed by linkage analysis. Hum. Genet. 91: 609-613, 1993.
[0032420]23008.Gallagher, A. R.; Cedzich, A.; Gretz, N.; Somlo, S.; Witzgall, R.: The polycystic kidney disease protein PKD2 interacts with Hax-1, a protein associated with the actin cytoskeleton. Proc. Nat. Acad. Sci. 97: 4017-4022, 2000.
[0032421]23009.Gonzalez-Perrett, S.; Kim, K.; Ibarra, C.; Damiano, A. E.; Zotta, E.; Batelli, M.; Harris, P. C.; Reisin, I. L.; Arnaout, M. A.; Cantiello, H. F.: Polycystin-2, the protein mutated in autosomal dominant polycystic kidney disease (ADPKD), is a Ca(2+)-permeable nonselective cation channel. Proc. Nat. Acad. Sci. 98: 1182-1187, 2001.
[0032422]23010.Grantham, J. J.; Calvet, J. P.: Polycystic kidney disease: in danger of being X-rated? Proc. Nat. Acad. Sci. 98: 790-792, 2001.
[0032423]23011.Hanaoka, K.; Qian, F.; Boletta, A.; Bhunia, A. K.; Piontek, K.; Tsiokas, L.; Sukhatme, V. P.; Guggino, W. B.; Germino, G. G.: Co-assembly of polycystin-1 and -2 produces unique cationpermeable currents. Nature 408: 990-994, 2000.
[0032424]23012.Hateboer, N.; van Dijk, M. A.; Bogdanova, N.; Coto, E.; Saggar-Malik, A. K.; San Millan, J. L.; Torra, R.; Breuning, M.; Ravine, D.: Comparison of phenotypes of polycystic kidney disease types 1 and 2. Lancet 353: 103-107, 1999.
[0032425]23013.Hayashi, T.; Mochizuki, T.; Reynolds, D. M.; Wu, G.; Cai, Y.; Somlo, S.: Characterization of the exon structure of the polycystic kidney disease 2 gene (PKD2). Genomics 44: 131-136, 1997.
[0032426]23014.Jeffery, S.; Saggar-Malik, A. K.; Morgan, S.; MacGregor, G. A. : A family with autosomal dominant polycystic kidney disease not linked to chromosome 16p13.3. Clin. Genet. 44: 173-176, 1993.
[0032427]23015.Kimberling, W. J.; Fain, P. R.; Kenyon, J. B.; Goldgar, D.; Sujansky, E.; Gabow, P. A.: Linkage heterogeneity of autosomal dominant polycystic kidney disease. New Eng. J. Med. 319: 913-918, 1988.
[0032428]23016.Kimberling, W. J.; Kumar, S.; Gabow, P. A.; Kenyon, J. B.; Connolly, C. J.; Somlo, S.: Autosomal dominant polycystic kidney disease: localization of the second gene to chromosome 4q13-q23. Genomics 18: 467-472, 1993.
[0032429]23017.Koptides, M.; Hadjimichael, C.; Koupepidou, P.; Pierides, A.; Deltas, C. C.: Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease. Hum. Molec. Genet. 8: 509-513, 1999.
[0032430]23018.Koptides, M.; Mean, R.; Demetriou, K.; Pierides, A.; Deltas, C. C.: Genetic evidence for a trans-heterozygous model for cystogenesis in autosomal dominant polycystic kidney disease. Hum. Molec. Genet. 9: 447-452, 2000.
[0032431]23019.Koulen, P.; Cai, Y.; Geng, L.; Maeda, Y.; Nishimura, S.; Witzgall, R.; Ehrlich, B. E.; Somlo, S.: Polycystin-2 is an intracellular calcium release channel. Nature Cell Biol. 4: 191-197, 2002.
[0032432]23020.Kumar, S.; Kimberling, W. J.; Gabow, P. A.; Kenyon, J. B.: Genetic linkage studies of autosomal dominant polycystic kidney disease: search for the second gene in a large Sicilian family. Hum. Genet. 87: 129-133, 1991.
[0032433]23021.Kumar, S.; Kimberling, W. J.; Gabow, P. A.; Shugart, Y. Y.; Pieke-Dahl, S.: Exclusion of autosomal dominant polycystic kidney disease type II (ADPKD2) from 160 cM of chromosome 1. J. Med. Genet. 27: 697-700, 1990.
[0032434]23022.Mochizuki, T.; Wu, G.; Hayashi, T.; Xenophontos, S. L.; Veldhuisen, B.; Saris, J. J.; Reynolds, D. M.; Cai, Y.; Gabow, P. A.; Pierides, A.; Kimberling, W. J.; Breuning, M. H.; Constantinou Deltas, C.; Peters, D. J. M.; Somlo, S.: PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science 272: 1339-1342, 1996.
[0032435]23023.Newby, L. J.; Streets, A. J.; Zhao, Y.; Harris, P. C.; Ward, C. J.; Ong, A. C.: Identification, characterization, and localization of a novel kidney polycystin-1-polycystin-2 complex. J. Biol. Chem. 277: 20763-20773, 2002.
[0032436]23024.Norby, S.; Schwartz, M.: Possible locus for polycystic kidney disease on chromosome 2. (Letter) Lancet 336: 323-324, 1990.
[0032437]23025.Parfrey, P. S. N.; Bear, J. C.; Morgan, J.; Cramer, B. C.; McManamon, P. J.; Gault, M. H.; Churchill, D.; Singh, M.; Hewitt, R.; Somlo, S.; Reeders, S.: The diagnosis and prognosis of autosomal dominant polycystic kidney disease. New Eng. J. Med. 323: 1085-1090, 1990.
[0032438]23026.Pei, Y.; He, N.; Wang, K.; Kasenda, M.; Paterson, A. D.; Chan, G.; Liang, Y.; Roscoe, J.; Brissenden, J.; Hefferton, D.; Parfrey, P.; Somlo, S.; St. George-Hyslop, P.: A spectrum of mutations in the polycystic kidney disease-2 (PKD2) gene from eight Canadian kindreds. J. Am. Soc. Nephrol. 9: 1853-1860, 1998.
[0032439]23027.Pei, Y.; Paterson, A. D.; Wang, K. R.; He, N.; Hefferton, D.; Watnick, T.; Germino, G. G.; Parfrey, P.; Somlo, S.; St. George-Hyslop, P.: Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease. Am. J. Hum. Genet. 68: 355-363, 2001.
[0032440]23028.Pei, Y.; Wang, K.; Kasenda, M.; Paterson, A. D.; Liang, Y.; Huang, E.; Lian, J.; Rogovea, E.; Somlo, S.; St. George-Hyslop, P.: A novel frameshift mutation induced by an adenosine insertion in the polycystic kidney disease 2 (PKD2) gene. Kidney Int. 53: 1127-1132, 1998.
[0032441]23029.Cleutjens, K. B. J. M.; van Eekelen, C. C. E. M.; van der Korput, H. A. G. M.; Brinkmann, A. O.; Trapman, J.: Two androgen response regions cooperate in steroid hormone regulated activity of the prostate-specific antigen promoter. J. Biol. Chem. 271: 6379-6388, 1996.
[0032442]23030.Evans, B. A.; Drinkwater, C. C.; Richards, R. I.: Mouse glandular kallikrein genes: structure and partial sequence analysis of the kallikrein gene locus. J. Biol. Chem. 262: 8027-8034, 1987.
[0032443]23031.Lundwall, A.; Lilja, H.: Molecular cloning of human prostate specific antigen cDNA. FEBS Lett. 214: 317-322, 1987.
[0032444]23032.Melegos, D. N.; Yu, H.; Ashok, M.; Wang, C.; Stanczyk, F.; Diamandis, E. P.: Prostate-specific antigen in female serum, a potential new marker of androgen excess. J. Clin. Endocr. Metab. 82: 777-780, 1997.
[0032445]23033.Prendergast, G. C.; Lawe, D.; Ziff, E. B.: Association of Myn, the murine homolog of Max, with c-Myc stimulates methylation-sensitive DNA binding and Ras cotransformation. Cell 65: 395-408, 1991.
[0032446]23034.Wagner, A. J.; Le Beau, M. M.; Diaz, M. O.; Hay, N.: Expression, regulation, and chromosomal localization of the Max gene. Proc. Nat. Acad. Sci. 89: 3111-3115, 1992.
[0032447]23035.Zervos, A. S.; Faccio, L.; Gatto, J. P.; Kyriakis, J. M.; Brent, R.: Mxi2, a mitogenactivated protein kinase that recognizes and phosphorylates Max protein. Proc. Nat. Acad. Sci. 92: 10531-10534, 1995.
[0032448]23036.Emi, M.; Katagiri, T.; Harada, Y.; Saito, H.; Inazawa, J.; Ito, I.; Kasumi, F.; Nakamura, Y.: A novel metalloprotease/disintegrin-like gene at 17q21.3 is somatically rearranged in two primary breast cancers. Nature Genet. 5: 151-157, 1993.
[0032449]23037.Katagiri, T.; Harada, Y.; Emi, M.; Nakamura, Y.: Human metalloprotease/disintegrinlike (MDC) gene: exon-intron organization and alternative splicing. Cytogenet. Cell Genet. 68: 39-44, 1995.
[0032450]23038.Begley, C. G.; Lipkowitz, S.; Gobel, V.; Mahon, K. A.; Bertness, V.; Green, A. R.; Gough, N. M.; Kirsch, I. R.: Molecular characterization of NSCL, a gene encoding a helix-loop-helix protein expressed in the developing nervous system. Proc. Nat. Acad. Sci. 89: 38-42, 1992.
[0032451]23039.Brown, L.; Espinosa, R., III; Le Beau, M. M.; Siciliano, M. J.; Baer, R.: HEN1 and HEN2: a subgroup of basic helix-loop-helix genes that are coexpressed in a human neuroblastoma. Proc. Nat. Acad. Sci. 89: 8492-8496, 1992.
[0032452]23040.Cogliati, T.; Good, D. J.; Haigney, M.; Delgado-Romero, P.; Eckhaus, M. A.; Koch, W. J.; Kirsch, I. R.: Predisposition to arrhythmia and autonomic dysfunction in Nhlh1-deficient mice. Molec. Cell. Biol. 22: 4977-4983, 2002.
[0032453]23041.Lipkowitz, S.; Gobel, V.; Varterasian, M. L.; Nakahara, K.; Tchorz, K.; Kirsch, I. R.: A comparative structural characterization of the human NSCL-1 and NSCL-2 genes: two basic helix-loophelix genes expressed in the developing nervous system. J. Biol. Chem. 267: 21065-21071, 1992.
[0032454]23042.Mullick, A.; Groulx, N.; Trasler, D.; Gros, P.: Nhlh1, a basic helix-loop-helix transcription factor, is very tightly linked to the mouse looptail (Lp) mutation. Mammalian Genome 6: 700-704, 1995.
[0032455]23043.Meeker, T. C.; Nagarajan, L.; ar-Rushdi, A.; Rovera, G.; Huebner, K.; Croce, C. M.: Characterization of the human PIM-1 gene: a putative proto-oncogene coding for a tissue specific member of the protein kinase family. Oncogene Res. 1: 87-101, 1987.
[0032456]23044.Pasqualucci, L.; Neumeister, P.; Goossens, T.; Nanjangud, G.; Chaganti, R. S. K.; Kuppers, R.; Dalla-Favera, R.: Hypermutation of multiple proto-oncogenes in B-cell diffuse large-cell lymphomas. Nature 412: 341-346, 2001.
[0032457]23045.Ragoussis, J.; Senger, G.; Mockridge, I.; Sanseau, P.; Ruddy, S.; Dudley, K.; Sheer, D.; Trowsdale, J.: A testis-expressed Zn finger gene (ZNF76) in human 6p21.3 centromeric to the MHC is closely linked to the human homolog of the t-complex gene tcp-11. Genomics 14: 673-679, 1992.
[0032458]23046.Saris, C. J. M.; Domen, J.; Berns, A.: The pim-1 oncogene encodes two related proteinserine/ threonine kinases by alternative initiation at AUG and CUG. EMBO J. 10: 655-664, 1991.
[0032459]23047.Selten, G.; Cuypers, H. T.; Boelens, W.; Robanus-Maandag, E.; Verbeek, J.; Domen, J.; van Beveren, C.; Berns, A.: The primary structure of the putative oncogene pim-1 shows extensive homology with protein kinases. Cell 46: 603-611, 1986.
[0032460]23048.Zoghbi, H. Y.; Ballantyne, C. M.; O'Brien, W. E.; McCall, A. E.; Kwiatkowski, T. J., Jr.; Ledbetter, S. A.; Beaudet, A. L.: Deletion and linkage mapping of eight markers from the proximal short arm of chromosome 6. Genomics 6: 352-357, 1990.
[0032461]23049.Knebelmann, B.; Forestier, L.; Drouot, L.; Quinones, S.; Chuet, C.; Benessy, F.; Saus, J.; Antignac, C.: Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome. Hum. Molec. Genet. 4: 675-679, 1995.
[0032462]23050.Gromoll, J.; Partsch, C.-J.; Simoni, M.; Nordhoff, V.; Sippell, W. G.; Nieschlag, E.; Saxena, B. B.: A mutation in the first transmembrane domain of the lutropin receptor causes male precocious puberty. J. Clin. Endocr. Metab. 83: 476-480, 1998.
[0032463]23051.Kawate, N.; Kletter, G. B.; Wilson, B. E.; Netzloff, M. L.; Menon, K. M. J.: Identification of constitutively activating mutation of the luteinising hormone receptor in a family with male limited gonadotrophin independent precocious puberty (testotoxicosis). J. Med. Genet. 32: 553-554, 1995.
[0032464]23052.Kosugi, S.; Van Dop, C.; Geffner, M. E.; Rabl, W.; Carel, J.-C.; Chaussain, J.-L.; Mori, T.; Merendino, J. J., Jr.; Shenker, A.: Characterization of heterogeneous mutations causing constitutive activation of the luteinizing hormone receptor in familial male precocious puberty. Hum. Molec. Genet. 4: 183-188, 1995.
[0032465]23053.Kremer, H.; Kraaij, R.; Toledo, S. P. A.; Post, M.; Fridman, J. B.; Hayashida, C. Y.; van Reen, M.; Milgrom, E.; Ropers, H.-H.; Mariman, E.; Themmen, A. P. N.; Brunner, H. G.: Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene. Nature Genet. 9: 160-164, 1995.
[0032466]23054.Kremer, H.; Mariman, E.; Otten, B. J.; Moll, G. W., Jr.; Stoelinga, G. B. A.; Wit, J. M.; Jansen, M.; Drop, S. L.; Faas, B.; Ropers, H.-H.; Brunner, H. G.: Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty. Hum. Molec. Genet. 2: 1779-1783, 1993.
[0032467]23055.Kremer, H.; Martens, J. W. M.; van Reen, M.; Verhoef-Post, M.; Wit, J. M.; Otten, B. J.; Drop, S. L. S.; Delemarre-van de Waal, H. A.; Pombo-Arias, M.; De Luca, F.; Potau, N.; Buckler, J. M. H.; and 9 others: A limited repertoire of mutations of the luteinizing hormone (LH) receptor gene in familial and sporadic patients with male LH-independent precocious puberty. J. Clin. Endocr. Metab. 84: 1136-1140, 1999.
[0032468]23056.Latronico, A. C.; Abell, A. N.; Arnhold, I. J.; Liu, X.; Lins, T. S. S.; Brito, V. N.; Billerbeck, A. E.; Segaloff, D. L.; Mendonca, B. B.: A unique constitutively activating mutation in third transmembrane helix of luteinizing hormone receptor causes sporadic male gonadotropin-independent precocious puberty. J. Clin. Endocr. Metab. 83: 2435-2440, 1998.
[0032469]23057.Latronico, A. C.; Anasti, J.; Arnhold, I. J. P.; Mendonca, B. B.; Domenice, S.; Albano, M. C.; Zachman, K.; Wajchenberg, B. L.; Tsigos, C.: A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty. J. Clin. Endocr. Metab. 80: 2490-2494, 1995.
[0032470]23058.Latronico, A. C.; Anasti, J.; Arnhold, I. J. P.; Rapaport, R.; Mendonca, B. B.; Bloise, W.; Castro, M.; Tsigos, C.; Chrousos, G. P.: Testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone-receptor gene. New Eng. J. Med. 334: 507-512, 1996.
[0032471]23059.Laue, L.; Chan, W.-Y.; Hsueh, A. J. W.; Kudo, M.; Hsu, S. Y.; Wu, S.-M.; Blomberg, L.; Cutler, G. B., Jr.: Genetic heterogeneity of constitutively activating mutations of the human luteinizing hormone receptor in familial male-limited precocious puberty. Proc. Nat. Acad. Sci. 92: 1906-1910, 1995.
[0032472]23060.Laue, L.; Wu, S.-M.; Kudo, M.; Hsueh, A. J. W.; Cutler, G. B., Jr.; Griffin, J. E.; Wilson, J. D.; Brain, C.; Berry, A. C.; Grant, D. B.; Chan, W.-Y.: A nonsense mutation of the human luteinizing hormone receptor gene in Leydig cell hypoplasia. Hum. Molec. Genet. 4: 1429-1433, 1995.
[0032473]23061.Lee, C. Y.; Ryan, R. J.: The uptake of human luteinizing hormone (NLH) by slices of luteinized rat ovaries. Endocrinology 89: 1515-1523, 1971.
[0032474]23062.Latronico, A. C.; Chai, Y.; Arnhold, I. J. P.; Liu, X.; Mendonca, B. B.; Segaloff, D. L.: A homozygous microdeletion in helix 7 of the luteinizing hormone receptor associated with familial testicular and ovarian resistance is due to both decreased cell surface expression and impaired effector activation by the cell surface receptor. Molec. Endocr. 12: 442-450, 1998.
[0032475]23063.Latronico, A. C.; Shinozaki, H.; Guerra, G., Jr.; Pereira, M. A. A.; Helena, S.; Lemos Marini, V.; Baptista, M. T. M.; Arnhold, I. J. P.; Fanelli, F.; Mendonca, B. B.; Segaloff, D. L.: Gonadotropin-independent precocious puberty due to luteinizing hormone receptor mutations in Brazilian boys: a novel constitutively activating mutation in the first transmembrane helix. J. Clin. Endocr. Metab. 85: 4799-4805, 2000.
[0032476]23064.Lee, C. Y.; Ryan, R. J.: Luteinizing hormone receptors: specific binding of human luteinizing hormone to homogenates of luteinized rat ovaries. Proc. Nat. Acad. Sci. 69: 3520-3523, 1972.
[0032477]23065.Liu, G.; Duranteau, L.; Carel, J.-C.; Monroe, J.; Doyle, D. A.; Shenker, A.: Leydig-cell tumors caused by an activating mutation of the gene encoding the luteinizing hormone receptor. New Eng. J. Med. 341: 1731-1736, 1999.
[0032478]23066.Loosfelt, H.; Misrahi, M.; Atger, M.; Salesse, R.; Vu Hai-Luu Thi, M. T.; Jolivet, A.; Guiochon-Mantel, A.; Sar, S.; Jallal, B.; Garnier, J.; Milgrom, E.: Cloning and sequencing of porcine LHhCG receptor cDNA: variants lacking transmembrane domain. Science 245: 525-528, 1989.
[0032479]23067.Martens, J. W. M.; Verhoef-Post, M.; Abelin, N.; Erzabella, M.; Toledo, S. P. A.; Brunner, H. G.; Themmen, A. P. N.: A homozygous mutation in the luteinizing hormone receptor causes partial Leydig cell hypoplasia: correlation between receptor activity and phenotype. Molec. Endocr. 12: 775-784, 1998.
[0032480]23068.McFarland, K. C.; Sprengel, R.; Phillips, H. S.; Kohler, M.; Rosemblit, N.; Nikolics, K.; Segaloff, D. L.; Seeburg, P. H.: Lutropin-choriogonadotropin receptor: an unusual member of the G protein-coupled receptor family. Science 245: 494-499, 1989.
[0032481]23069.Min, L.; Ascoli, M.: Effect of activating and inactivating mutations on the phosphorylation and trafficking of the human lutropin/choriogonadotropin receptor. Molec. Endocr. 14: 1797-1810, 2000.
[0032482]23070.Minegishi, T.; Nakamura, K.; Takakura, Y.; Miyamoto, K.; Hasegawa, Y.; Ibuki, Y.; Igarashi, M.: Cloning and sequencing of human LH/hCG receptor cDNA. Biochem. Biophys. Res. Commun. 172: 1049-1054, 1990.
[0032483]23071.Chapin, S. J.; Lue, C.-M.; Yu, M. T.; Bulinski, J. C.: Differential expression of alternatively spliced forms of MAP4: a repertoire of structurally different microtubule-binding domains. Biochemistry 34: 2289-2301, 1995.
[0032484]23072.Laird, P. W.; van der Lugt, N. M. T.; Clarke, A.; Domen, J.; Linders, K.; McWhir, J.; Berns, A.; Hooper, M.: In vivo analysis of Pim-1 deficiency. Nucleic Acids Res. 21: 4750-4755, 1993.
[0032485]23073.Gartner, J.; Obie, C.; Watkins, P.; Valle, D.: Restoration of peroxisome biogenesis in a peroxisome-deficient mammalian cell line by expression of either the 35 kDa or the 70 kDa peroxisomal membrane proteins. J. Inherit. Metab. Dis. 17: 327-329, 1994.
[0032486]23074.Coto, E.; Sanz de Castro, S.; Aguado, S.; Alvarez, J.; Arias, M.; Menendez, M. J.; Lopez-Larrea, C.: DNA microsatellite analysis of families with autosomal dominant polycystic kidney disease types 1 and 2: evaluation of clinical heterogeneity between both forms of the disease. J. Med. Genet. 32: 442-445, 1995.
[0032487]23075.Maric, S. C.; Crozat, A.; Janne, O. A.: Structure and organization of the human Sadenosylmethionine decarboxylase gene. J. Biol. Chem. 267: 18915-18923, 1992.
[0032488]23076.Maric, S. C.; Crozat, A.; Louhimo, J.; Knuutila, S.; Janne, O. A.: The human Sadenosylmethionine decarboxylase gene: nucleotide sequence of a pseudogene and chromosomal localization of the active gene (AMD1) and the pseudogene (AMD2). Cytogenet. Cell Genet. 70: 195-199, 1995.
[0032489]23077.Mangan, M. E.; Olmsted, J. B.: The gene for microtubule-associated protein 4 (Mtap4) maps to the distal region of mouse chromosome 9. Mammalian Genome 7: 918-925, 1996.
[0032490]23078.West, R. R.; Tenbarge, K. M.; Olmsted, J. B.: A model for microtubule-associated protein 4 structure: domains defined by comparisons of human, mouse, and bovine sequences. J. Biol. Chem. 266: 21886-21896, 1991.
[0032491]23079.Abel, K. J.; Boehnke, M.; Prahalad, M.; Ho, P.; Flejter, W. L.; Watkins, M.; VanderStoep, J.; Chandrasekharappa, S. C.; Collins, F. S.; Glover, T. W.; Weber, B. L.: A radiation hybrid map of the BRCA1 region of chromosome 17q12-q21. Genomics 17: 632-641, 1993.
[0032492]23080.Alonso, A. D. C.; Grundke-Iqbal, I.; Iqbal, K.: Alzheimer's disease hyperphosphorylated tau sequesters normal tau into tangles of filaments and disassembles microtubules. Nature Med. 2: 783-787, 1996.
[0032493]23081.Arima, K.; Kowalska, A.; Hasegawa, M.; Mukoyama, M.; Watanabe, R.; Kawai, M.; Takahashi, K.; Iwatsubo, T.; Tabira, T.; Sunohara, N.: Two brothers with frontotemporal dementia and parkinsonism with an N279K mutation of the tau gene. Neurology 54: 1787-1795, 2000.
[0032494]23082.Baker, M.; Litvan, I.; Houlden, H.; Adamson, J.; Dickson, D.; Perez-Tur, J.; Hardy, J.; Lynch, T.; Bigio, E.; Hutton, M.: Association of an extended haplotype in the tau gene with progressive supranuclear palsy. Hum. Molec. Genet. 8: 711-715, 1999.
[0032495]23083.Brown, J.; Lantos, P. L.; Roques, P.; Fidani, L.; Rossor, M. N. : Familial dementia with swollen achromatic neurons and corticobasal inclusion bodies: a clinical and pathological study. J. Neurol. Sci. 135: 21-30, 1996.
[0032496]23084.Clark, L. N.; Poorkaj, P.; Wszolek, Z.; Geschwind, D. H.; Nasreddine, Z. S.; Miller, B.; Li, D.; Payami, H.; Awert, F.; Markopoulou, K.; Andreadis, A.; D'Souza, I.; Lee, V. M.-Y.; Reed, L.; Trojanowski, J. Q.; Zhukareva, V.; Bird, T.; Schellenberg, G.; Wilhelmsen, K. C. : Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17. Proc. Nat. Acad. Sci. 95: 13103-13107, 1998.
[0032497]23085.Connell, J. W.; Gibb, G. M.; Betts, J. C.; Blackstock, W. P.; Gallo, J.-M.; Lovestone, S.; Hutton, M.; Anderton, B. H.: Effects of FTDP-17 mutations on the in vitro phosphorylation of tau by glycogen synthase kinase 3-beta identified by mass spectrometry demonstrate certain mutations exert long-range conformational changes. FEBS Lett. 493: 40-44, 2001.
[0032498]23086.Conrad, C.; Andreadis, A.; Trojanowski, J. Q.; Dickson,D. W.; Kang, D.; Chen, X.; Weiderholt, W.; Hansen, L.; Masliah, E.; Thal, L. J.; Katzman, R.; Xia, Y.; Saitoh, T.: Genetic evidence for the involvement of tau in progressive supranuclear palsy. Ann. Neurol. 41: 277-281, 1997.
[0032499]23087.Conrad, C.; Vianna, C.; Freeman, M.; Davies, P.: A polymorphic gene nested within an intron of the tau gene: implications for Alzheimer's disease. Proc. Nat. Acad. Sci. 99: 7751-7756, 2002.
[0032500]23088.Delisle, M. B.; Murrell, J. R.; Richardson, R.; Trofatter, J. A.; Rascol, O.; Soulages, X.; Mohr, M.; Calvas, P.; Ghetti, B.: A mutation at codon 279 (N279K) in exon 10 of the tau gene causes a tauopathy with dementia and supranuclear palsy. Acta Neuropath. 98: 62-77, 1999.
[0032501]23089.Donlon, T. A.; Harris, P.; Neve, R. L.: Localization of microtubule-associated protein tau (MTBT1) to chromosome 17q21. (Abstract) Cytogenet. Cell Genet. 46: 607, 1987.
[0032502]23090.Goedert, M.; Crowther, R. A.; Spillantini, M. G.: Tau mutations cause frontotemporal dementias. Neuron 21: 955-958, 1998.
[0032503]23091.Goedert, M.; Spillantini, M. G.; Potier, M. C.; Ulrich, J.; Crowther, R. A.: Cloning and sequencing of the cDNA encoding an isoform of microtubule-associated protein tau containing four tandem repeats: differential expression of tau protein mRNAs in human brain. EMBO J. 8: 393-399, 1989.
[0032504]23092.Goedert, M.; Wischik, C. M.; Crowther, R. A.; Walker, J. E.; Klug, A.: Cloning and sequencing of the cDNA encoding a core protein of the paired helical filament of Alzheimer disease: identification as the microtubule-associated protein tau. Proc. Nat. Acad. Sci. 85: 4051-4055, 1988.
[0032505]23093.Goode, B. L.; Chau, M.; Denis, P. E.; Feinstein, S. C.: Structural and functional differences between 3-repeat and 4-repeat tau isoforms: implications for normal tau function and the onset of neurodegenerative disease. J. Biol. Chem. 275: 38182-38189, 2000.
[0032506]23094.Heutink, P.: Untangling tau-related dementia. Hum. Molec. Genet. 9: 979-986, 2000.
[0032507]23095.Heutink, P.; Stevens, M.; Rizzu, P.; Bakker, E.; Kros, J. M.; Tibben, A.; Niermeijer, M. F.; van Duijn, C. M.; Oostra, B. A.; van Swieten, J. C.: Hereditary frontotemporal dementia is linked to chromosome 17q21-q22: a genetic and clinicopathological study of three Dutch families. Ann. Neurol. 41: 150-159, 1997.
[0032508]23096.Hiesberger, T.; Trommsdorff, M.; Howell, B. W.; Goffinet, A.; Mumby, M. C.; Cooper, J. A.; Herz, J.: Direct binding of reelin to VLDL receptor and apoE receptor 2 induces tyrosine phosphorylation of disabled-1 and modulates tau phosphorylation. Neuron 24: 481-489, 1999.
[0032509]23097.Hong, M.; Zhukareva, V.; Vogelsberg-Ragaglia, V.; Wszolek, Z.; Reed, L.; Miller, B. I.; Geschwind, D. H.; Bird, T. D.; McKeel, D.; Goate, A.; Morris, J. C.; Wilhelmsen, K. C.; Schellenberg, G. D.; Trojanowski, J. Q.; Lee, V. M.-Y.: Mutation-specific functional impairments in distinct tau isoforms of hereditary FTDP-17. Science 282: 1914-1917, 1998.
[0032510]23098.Hutton, M.: Missense and splice site mutations in tau associated with FTDP-17: multiple pathogenic mechanisms. Neurology 56 (suppl. 4): S21-S25, 2001.
[0032511]23099.Hutton, M.; Lendon, C. L.; Rizzu, P.; Baker, M.; Froelich, S.; Houlden, H.; Pickering-Brown, S.; Chakraverty, S.; Isaacs, A.; Grover, A.; Hackett, J.; Adamson, J.; and 39 others: Association of missense and 5-prime-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 393: 702-705, 1998.
[0032512]23100.Iijima, M.; Tabira, T.; Poorkaj, P.; Schellenberg, G. D.; Trojanowski, J. Q.; Lee, V. M.; Schmidt, M. L.; Takahashi, K.; Nabika, T.; Matsumoto, T.; Yamashita, Y.; Yoshioka, S.; Ishino, H.: A distinct familial presenile dementia with a novel missense mutation in the tau gene. Neuroreport 10: 497-501, 1999.
[0032513]23101.Ishihara, T.; Hong, M.; Zhang, B.; Nakagawa, Y.; Lee, M. K.; Trojanowski, J. Q.; Lee, V. M.-Y.: Age-dependent emergence and progression of a tauopathy in transgenic mice overexpressing the shortest human tau isoform. Neuron 24: 751-762, 1999.
[0032514]23102.Janssen, J. C.; Warrington, E. K.; Morris, H. R.; Lantos, P.; Brown, J.; Revesz, T.; Wood, N.; Khan, M. N.; Cipolotti, L.; Fox, N. C.; Rossor, M. N.: Clinical features of frontotemporal dementia due to the intronic tau 10 +16 mutation. Neurology 58: 1161-1168, 2002.
[0032515]23103.Braun, T.; Grzeschik, K.-H.; Bober, E.; Arnold, H.-H.: The MYF genes, a group of human muscle determining factors, are localized on different human chromosomes. (Abstract) Cytogenet. Cell Genet. 51: 969 only, 1989.
[0032516]23104.Henry, I.; Puech, A.; Antignac, C.; Couillin, P.; Jeanpierre, M.; Ahnine, L.; Barichard, F.; Boehm, T.; Augereau, P.; Scrable, H.; Rabbitts, T. H.; Rochefort, H.; Cavenee, W.; Junien, C.: Subregional mapping of BWS, CTSD, MYOD1, and a T-ALL breakpoint in 11p15. (Abstract) Cytogenet. Cell Genet. 51: 1013 only, 1989.
[0032517]23105.Kim, Y.-J.; Noguchi, S.; Hayashi, Y. K.; Tsukahara, T.; Shimizu, T.; Arahata, K.: The product of an oculopharyngeal muscular dystrophy gene, poly(A)-binding protein 2, interacts with SKIP and stimulates muscle-specific gene expression. Hum. Molec. Genet. 10: 1129-1139, 2001.
[0032518]23106.Olson, E. N.: MyoD family: a paradigm for development. Genes Dev. 4: 1454-1461, 1990.
[0032519]23107.Troger, J.; Neyer, S.; Heufler, C.; Huemer, H.; Schmid, E.; Griesser, U.; Kralinger, M.; Kremser, B.; Baldissera, I.; Kieselbach, G.: Substance P and vasoactive intestinal polypeptide in the streptozotocin-induced diabetic rat retina. Invest. Ophthal. Vis. Sci. 42: 1045-1050, 2001.
[0032520]23108.Castagliuolo, I.; Riegler, M.; Pasha, A.; Nikulasson, S.; Lu, B.; Gerard, C.; Gerard, N. P.; Pothoulakis, C.: Neurokinin-1 (NK-1) receptor is required in Clostridium difficile-induced enteritis. J. Clin. Invest. 101: 1547-1550, 1998.
[0032521]23109.De Felipe, C.; Herrero, J. F.; O'Brien, J. A.; Palmer, J. A.; Doyle, C. A.; Smith, A. J. H.; Laird, J. M. A.; Belmonte, C.; Cervero, F.; Hunt, S. P.: Altered nociception, analgesia and aggression in mice lacking the receptor for substance P. Nature 392: 394-397, 1998.
[0032522]23110.Gerard, N. P.; Garraway, L. A.; Eddy, R. L., Jr.; Shows, T. B.; Iijima, H.; Paquet, J. L.; Gerard, C.: Human substance P receptor (NK-1): organization of the gene, chromosome localization, and functional expression of cDNA clones. Biochemistry 30: 10640-10646, 1991.
[0032523]23111.Hopkins, B.; Powell, S. J.; Danks, P.; Briggs, I.; Graham, A.: Isolation and characterisation of the human lung NK-1 receptor cDNA. Biochem. Biophys. Res. Commun. 180: 1110-1117, 1991.
[0032524]23112.Murtra, P.; Sheasby, A. M.; Hunt, S. P.; De Felipe, C.: Rewarding effects of opiates are absent in mice lacking the receptor for substance P. Nature 45: 180-183, 2000.
[0032525]23113.Page, N. M.; Woods, R. J.; Gardiner, S. M.; Lomthaisong, K.; Gladwell, R. T.; Butlin, D. J.; Manyonda, I. T.; Lowry, P. J.: Excessive placental secretion of neurokinin B during the third trimester causes pre-eclampsia. Nature 405: 797-800, 2000.
[0032526]23114.Ishikawa, T.; Umesono, K.; Mangelsdorf, D. J.; Aburatani, H.; Stanger, B. Z.; Shibasaki, Y.; Imawari, M.; Evans, R. M.; Takaku, F.: A functional retinoic acid receptor encoded by the gene on human chromosome 12. Molec. Endocr. 4: 837-844, 1990.
[0032527]23115.Krust, A.; Kastner, P.; Petkovich, M.; Zelent, A.; Chambon, P. : A third human retinoic acid receptor, hRAR-gamma. Proc. Nat. Acad. Sci. 86: 5310-5314, 1989.
[0032528]23116.Mattei, M.-G.; Riviere, M.; Krust, A.; Ingvarsson, S.; Vennstrom, B.; Islam, M. Q.; Levan, G.; Kautner, P.; Zelent, A.; Chambon, P.; Szpirer, J.; Szpirer, C.: Chromosomal assignment of retinoic acid receptor (RAR) genes in the human, mouse, and rat genomes. Genomics 10: 1061-1069, 1991.
[0032529]23117.Ryseck, R.-P.; Macdonald-Bravo, H.; Mattei, M. G.; Siegfried, R. L.; Bravo, R.: Structure, mapping and expression of a growth factor inducible gene encoding a putative nuclear hormonal binding receptor. EMBO J. 8: 3327-3335, 1989.
[0032530]23118.Abramson, D. H.; Ellsworth, R. M.; Zimmerman, L. E.: Monocular cancer in retinoblastoma survivors. Trans. Am. Acad. Ophthal. Otolaryng. 81: 454-457, 1976.
[0032531]23119.Aherne, G. E. S.; Roberts, D. F.: Retinoblastoma--a clinical survey and its genetic implications. Clin. Genet. 8: 275-290, 1975.
[0032532]23120.Alonso, J.; Garcia-Miguel, P.; Abelairas, J.; Mendiola, M.; Sarret, E.; Vendrell, M. T.; Navajas, A.; Pestana, A.: Spectrum of germline RB1 gene mutations in Spanish retinoblastoma patients: phenotypic and molecular epidemiological implications. Hum. Mutat. 17: 412-422, 2001.
[0032533]23121.Amoaku, W. M. K.; Willshaw, H. E.; Parkes, S. E.; Shah, K. J.; Mann, J. R.: Trilateral retinoblastoma: a report of five patients. Cancer 78: 858-863, 1996.
[0032534]23122.Bader, J. L.; Meadows, A. T.; Zimmerman, L. E.; Rorke, L. B.; Voute, P. A.; Champion, L. A. A.; Miller, R. W.: Bilateral retinoblastoma with ectopic intracranial retinoblastoma: trilateral retinoblastoma. Cancer Genet. Cytogenet. 5: 203-213, 1982.
[0032535]23123.Balaban-Malenbaum, G.; Gilbert, F.; Nichols, W. W.; Hill, R.; Shields, J.; Meadows, A. T.: A deleted chromosome no. 13 in human retinoblastoma cells: relevance to tumorigenesis. Cancer Genet. Cytogenet. 3: 243-250, 1981.
[0032536]23124.Bandara, L. R.; Adamczewski, J. P.; Hunt, T.; La Thangue, N. B. : Cyclin A and the retinoblastoma gene product complex with a common transcription factor. Nature 352: 249-251, 1991.
[0032537]23125.Benedict, W. F.; Murphree, A. L.; Banerjee, A.; Spina, C. A.; Sparkes, M. C.; Sparkes, R. S.: Patient with 13 chromosome deletion: evidence that the retinoblastoma gene is a recessive cancer gene. Science 219: 973-975, 1983.
[0032538]23126.Benedict, W. F.; Xu, H.-J.; Hu, S.-X.; Takahashi, R.: Role of the retinoblastoma gene in the initiation and progression of human cancer. J. Clin. Invest. 85: 988-993, 1990.
[0032539]23127.Bia, B.; Cowell, J. K.: Independent constitutional germline mutations occurring in the RB1 gene in cousins with bilateral retinoblastoma. Oncogene 11: 977-979, 1995.
[0032540]23128.Blanquet, V.; Turleau, C.; de Grouchy, J.; Creau-Goldberg, N. : Physical map around the retinoblastoma gene: possible genomic imprinting suggested by NruI digestion. Genomics 10: 350-355, 1991.
[0032541]23129.Blanquet, V.; Turleau, C.; Gross-Morand, M. S.; Senamaud-Beaufort, C.; Doz, F.; Besmond, C.: Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non hereditary retinoblastoma. Hum. Molec. Genet. 4: 383-388, 1995.
[0032542]23130.Jiang, Z.; Cote, J.; Kwon, J. M.; Goate, A. M.; Wu, J. Y.: Aberrant splicing of tau premRNA caused by intronic mutations associated with the inherited dementia frontotemporal dementia with Parkinsonism linked to chromosome 17. Molec. Cell. Biol. 20: 4036-4048, 2000.
[0032543]23131.Magenis, R. E.; Smith, L.; Nadeau, J. H.; Johnson, K. R.; Mountjoy, K. G.; Cone, R. D.: Mapping of the ACTH, MSH, and neural (MC3 and MC4) melanocortin receptors in the mouse and human. Mammalian Genome 5: 503-508, 1994.
[0032544]23132.Futterweit, W.; Ritch, R.; Teekhasaenee, C.; Nelson, E. S.: Coexistence of Prader-Willi syndrome, congenital ectropion uveae with glaucoma, and factor XI deficiency. J.A.M.A. 255: 3280-3282, 1986.
[0032545]23133.Chow, D.; He, X.; Snow, A. L.; Rose-John, S.; Garcia, K. C.: Structure of an extracellular gp130 cytokine receptor signaling complex. Science 291: 2150-2155, 2001.
[0032546]23134.Funatsu, H.; Yamashita, H.; Noma, H.; Mimura, T.; Yamashita, T.; Hori, S.: Increased levels of vascular endothelial growth factor and interleukin-6 in the aqueous humor of diabetics with macular edema. Am. J. Ophthal. 133: 70-77, 2002.
[0032547]23135.Kelsell, D. P.; Risk, J. M.; Leigh, I. M.; Stevens, H. P.; Ellis, A.; Hennies, H. C.; Reis, A.; Weissenbach, J.; Bishop, D. T.; Spurr, N. K.; Field, J. K.: Close mapping of the focal nonepidermolytic palmoplantar keratoderma (PPK) locus associated with oesophageal cancer (TOC). Hum. Molec. Genet. 5: 857-860, 1996.
[0032548]23136.McLean, W. H. I.: Personal Communication. Philadelphia, Pa. 2/26/1997.
[0032549]23137.McLean, W. H. I.; Rugg, E. L.; Lunny, D. P.; Morley, S. M.; Lane, E. B.; Swensson, O.; Dopping-Hepenstal, P. J. C.; Griffiths, W. A. D.; Eady, R. A. J.; Higgins, C.; Navsaria, H. A.; Leigh, I. M.; Strachan, T.; Kunkeler, L.; Munro, C. S.: Keratin 16 and keratin 17 mutations cause pachyonychia congenita. Nature Genet. 9: 273-278, 1995.
[0032550]23138.Shamsheer, M. K.; Navsaria, H. A.; Stevens, H. P.; Ratnavel, R. C.; Purkis, P. E.; McLean, W. H.; Cook. L. J.; Griffiths, W. A. D.; Geschmeissner, S.; Spurr, N.; Leigh, I. M.: Novel mutations in keratin 16 gene underly focal nonepidermolytic palmoplantar keratoderma (NEPPK) in two families. Hum. Mol. Genet. 4: 1875-1881, 1995.
[0032551]23139.Smith, F. J. D.; Del Monaco, M.; Steijlen, P. M..; Munro, C. S..; Morvay, M.; Coleman, C. M.; Rietveld, F. J. R.; Uitto, J.; McLean, W. H. I.: Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1. Brit. J. Derm. 141: 1010-1016, 1999.
[0032552]23140.Smith, F. J. D.; McKusick, V. A.; Nielsen, K.; Pfendner, E.; Uitto, J.; McLean, W. H. I.: Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1. Prenatal Diag. 19: 941-946, 1999.
[0032553]23141.Stevens, H. P.; Kelsell, D. P.; Spurr, N. K.; Bishop, D. T.; Purkis, P. E.; Griffiths, W. A. D.; Rustin, M. H. A.; Leigh, I. M.: Keratin staining and linkage of non-epidermolytic focal palmoplantar keratodermas (PPK) to 17q. (Abstract) Brit. J. Derm. 131: 425, 1994.
[0032554]23142.Terrinoni, A.; Puddu, P.; Didona, B.; De Laurenzi, V.; Candi, E.; Smith, F. J. D.; McLean, W. H. I.; Melino, G.: A mutation in the V1 domain of K16 is responsible for unilateral palmoplantar verrucous nevus. J. Invest. Derm. 114: 1136-1140, 2000.
[0032555]23143.Lewis, J.; McGowan, E.; Rockwood, J.; Melrose, H.; Nacharaju, P.; Van Slegtenhorst, M.; Gwinn-Hardy, K.; Murphy, M. P.; Baker, M.; Yu, X.; Duff, K.; Hardy, J.; Corral, A.; Lin, W.-L.; Yen, S.-H.; Dickson, D. W.; Davies, P.; Hutton, M.: Neurofibrillary tangles, amyotrophy and progressive motor disturbance in mice expressing mutant (P301L) tau protein. Nature Genet. 25: 402-405, 2000. Note: Erratum: Nature Genet. 26: 127 only, 2000.
[0032556]23144.Lippa, C. F.; Zhukareva, V.; Kawarai, T.; Uryu, K.; Shafiq, M.; Nee, L. E.; Grafman, J.; Liang, Y.; St George-Hyslop, P. H.; Trojanowski, J. Q.; Lee, V. M.-Y.: Frontotemporal dementia with novel tau pathology and a glu342val tau mutation. Ann. Neurol. 48: 850-858, 2000.
[0032557]23145.Litvan, I.; Baker, M.; Hutton, M.: Tau genotype: no effect on onset, symptom severity, or survival in progressive supranuclear palsy. Neurology 57: 138-140, 2001.
[0032558]23146.Martin, E. R.; Scott, W. K.; Nance, M. A.; Watts, R. L.; Hubble, J. P.; Koller, W. C.; Lyons, K.; Pahwa, R.; Stern, M. B.; Colcher, A.; Hiner, B. C.; Jankovic, J.; and 20 others: Association of single-nucleotide polymorphisms of the Tau gene with late-onset Parkinson disease. J.A.M.A. 286: 2245-2250, 2001.
[0032559]23147.Moser, A. B.; Rasmussen, M.; Naidu, S.; Watkins, P. A.; McGuinness, M.; Hajra, A. K.; Chen, G.; Raymond, G.; Liu, A.; Gordon, D.; Garnaas, K.; Walton, D. S.; Skjedal, O. H.; Guggenheim, M. A.; Jackson, L. G.; Elias, E. R.; Moser, H. W.: Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups. J. Pediat. 127: 13-22, 1995.
[0032560]23148.Paton, B. C.; Heron, S. E.; Nelson, P. V.; Morris, C. P.; Poulos, A.: Absence of mutations raises doubts about the role of the 70-kD peroxisomal membrane protein in Zellweger syndrome. (Letter) Am. J. Hum. Genet. 60: 1535-1539, 1997.
[0032561]23149.Aljada, A.; Ghanim, H.; Friedman, J.; Garg, R.; Mohanty, P.; Dandona, P.: Troglitazone reduces the expression of PPAR-gamma while stimulating that of PPAR-alpha in mononuclear cells in obese subjects. J. Clin. Endocr. Metab. 86: 3130-3133, 2001.
[0032562]23150.Costet, P.; Legendre, C.; More, J.; Edgar, A.; Galtier, P.; Pineau, T.: Peroxisome proliferator-activated receptor alpha-isoform deficiency leads to progressive dyslipidemia with sexually dimorphic obesity and steatosis. J. Biol. Chem. 273: 29577-29585, 1998.
[0032563]23151.Djouadi, F.; Weinheimer, C. J.; Saffitz, J. E.; Pitchford, C.; Bastin, J.; Gonzalez, F. J.; Kelly, D. P.: A gender-related defect in lipid metabolism and glucose homeostasis in peroxisome proliferator-activated receptor alpha-deficient mice. J. Clin. Invest. 102: 1083-1091, 1998.
[0032564]23152.Kersten, S.; Desvergne, B.; Wahli, W.: Roles of PPARs in health and disease. Nature 405: 421-424, 2000.
[0032565]23153.Kersten, S.; Seydoux, J.; Peters, J. M.; Gonzalez, F. J.; Desvergne, B.; Wahli, W.: Peroxisome proliferator-activated receptor alpha mediates the adaptive response to fasting. J. Clin. Invest. 103: 1489-1498, 1999.
[0032566]23154.Lee, S. S.-T.; Pineau, T.; Drago, J.; Lee, E. J.; Owens, J. W.; Kroetz, D. L.; Fernandez-Salguero, P. M.; Westphal, H.; Gonzalez, F. J.: Targeted disruption of the alpha isoform of the peroxisome proliferator-activated receptor gene in mice results in abolishment of the pleiotropic effects of peroxisome proliferators. Molec. Cell. Biol. 15: 3012-3022, 1995.
[0032567]23155.Lee, Y.; Yu, X.; Gonzales, F.; Mangelsdorf, D. J.; Wang, M.-Y.; Richardson, C.; Witters, L. A.; Unger, R. H.: PPAR-alpha is necessary for the lipopenic action of hyperleptinemia on white adipose and liver tissue. Proc. Nat. Acad. Sci. 99: 11848-11853, 2002.
[0032568]23156.Leone, T. C.; Weinheimer, C. J.; Kelly, D. P.: A critical role for the peroxisome proliferator-activated receptor alpha (PPAR-alpha) in the cellular fasting response: the PPAR-alpha-null mouse as a model of fatty acid oxidation disorders. Proc. Nat. Acad. Sci. 96: 7473-7478, 1999.
[0032569]23157.Michalik, L.; Desvergne, B.; Tan, N. S.; Basu-Modak, S.; Escher, P.; Rieusset, J.; Peters, J. M.; Kaya, G.; Gonzalez, F. J.; Zakany, J.; Metzger, D.; Chambon, P.; Duboule, D.; Wahli, W.: Impaired skin wound healing in peroxisome proliferator-activated receptor (PPAR)-alpha and PPAR-beta mutant mice. J. Cell Biol. 154: 799-814, 2001.
[0032570]23158.Sher, T.; Yi, H.-F.; McBride, O. W.; Gonzalez, F. J.: cDNA cloning, chromosomal mapping, and functional characterization of the human peroxisome proliferator activated receptor. Biochemistry 32: 5598-5604, 1993.
[0032571]23159.Xu, H. E.; Stanley, T. B.; Montana, V. G.; Lambert, M. H.; Shearer, B. G.; Cobb, J. E.; McKee, D. D.; Galardi, C. M.; Plunket, K. D.; Nolte, R. T.; Parks, D. J.; Moore, J. T.; Kliewer, S. A.; Willson, T. M.; Stimmel, J. B.: Structural basis for antagonist-mediated recruitment of nuclear corepressors by PPAR-alpha. Nature 415: 813-817, 2002.
[0032572]23160.Cameron, P.; Limjuco, G.; Rodkey, J.; Bennett, C.; Schmidt, J. A.: Amino acid sequence analysis of human interleukin 1 (IL-1): evidence for biochemically distinct forms of IL-1. J. Exp. Med. 162: 790-801, 1985.
[0032573]23161.D'Eustachio, P.; Jadidi, S.; Fuhlbrigge, R. C.; Gray, P. W.; Chaplin, D. D.: Interleukin-1 alpha and beta genes: linkage on chromosome 2 in the mouse. Immunogenetics 26: 339-343, 1987.
[0032574]23162.Dinarello, C. A.: An update on human interleukin-1: from molecular biology to clinical relevance. J. Clin. Immun. 5: 287-297, 1985.
[0032575]23163.El-Omar, E. M.; Carrington, M.; Chow, W.-H.; McColl, K. E. L.; Bream, J. H.; Young, H. A.; Herrera, J.; Lissowska, J.; Yuan, C.-C.; Rothman, N.; Lanyon, G.; Martin, M.; Fraumeni, J. F., Jr.; Rabkin, C. S.: Interleukin-1 polymorphisms associated with increased risk of gastric cancer. Nature 404: 398-402, 2000. Note: Erratum: Nature 412: 99 only, 2001.
[0032576]23164.Furutani, Y.; Notake, M.; Yamayoshi, M.; Yamagishi, J.; Nomura, H.; Ohue, M.; Furuta, R.; Fukui, T.; Yamada, M.; Nakamura, S.: Cloning and characterization of the cDNAs for human and rabbit interleukin-1 precursor. Nucleic Acids Res. 13: 5869-5882, 1985.
[0032577]23165.Hamajima, N.; Matsuo, K.; Saito, T.; Tajima, K.; Okuma, K.; Yamao, K.; Tominaga, S.: Interleukin 1 polymorphisms, lifestyle factors, and helicobacter pylori infection. Jpn. J. Cancer Res. 92: 383-389, 2001.
[0032578]23166.Le Beau, M. M.; Rowley, J. D.: Personal Communication. Chicago, Ill. 6/18/1986.
[0032579]23167.March, C. J.; Mosley, B.; Larsen, A.; Cerretti, D. P.; Braedt, G.; Price, V.; Gillis, S.; Henney, C. S.; Kronheim, S. R.; Grabstein, K.; Conlon, P. J.; Hopp, T. P.; Cosman, D.: Cloning, sequence and expression of two distinct human interleukin-1 complementary DNAs. Nature 315: 641-647, 1985.
[0032580]23168.Nicklin, M. J. H.; Weith, A.; Duff, G. W.: A physical map of the region encompassing the human interleukin-1-alpha, interleukin-1-beta, and interleukin-1 receptor antagonist genes. Genomics 19: 382-384, 1994.
[0032581]23169.Samad, T. A.; Moore, K. A.; Sapirstein, A.; Billet, S.; Allchorne, A.; Poole, S.; Bonventre, J. V.; Woolf, C. J.: Interleukin-1-beta-mediated induction of Cox-2 in the CNS contributes to inflammatory pain hypersensitivity. Nature 410: 471-475, 2001.
[0032582]23170.Vidal-Vanaclocha, F.; Fantuzzi, G.; Mendoza, L.; Fuentes, A. M.; Anasagasti, M. J.; Martin, J.; Carrascal, T.; Walsh, P.; Reznikov, L. L.; Kim, S.-H.; Novick, D.; Rubinstein, M.; Dinarello, C. A.: IL-18 regulates IL-1-beta-dependent hepatic melanoma metastasis via vascular cell adhesion molecule-1. Proc. Nat. Acad. Sci. 97: 734-739, 2000.
[0032583]23171.Webb, A.; Collins, K.; Auron, P.; Eddy, R.; Nakai, H.; Byers, M.; Shows, T. B.: Genetics of acute phase response: a gene for interleukin-1 is on chromosome 2. (Abstract) Am. J. Hum. Genet. 37: A142 only, 1985.
[0032584]23172.Webb, A. C.; Collins, K. L.; Auron, P. E.; Eddy, R. L.; Nakai, H.; Byers, M.; Shows, T. B.: The gene for interleukin-1 (IL1) is on human chromosome 2. (Abstract) Cytogenet. Cell Genet. 40: 774 only, 1985.
[0032585]23173.Webb, A. C.; Collins, K. L.; Auron, P. E.; Eddy, R. L.; Nakai, H.; Byers, M. G.; Haley, L. L.; Henry, W. M.; Shows, T. B.: Interleukin-1 gene (IL1) assigned to long arm of human chromosome 2. Lymphokine Res. 5: 77-85, 1986.
[0032586]23174.Ansano, M.; Toda, M.; Sakaguchi, N.; Sakaguchi, S.: Autoimmune disease as a consequence of developmental abnormality of a T cell subpopulation. J. Exp. Med. 184: 387-396, 1996.
[0032587]23175.Cosman, D.; Cerretti, D. P.; Larsen, A.; Park, L.; March, C.; Dower, S.; Gillis, S.; Urdal, D.: Cloning, sequence and expression of human interleukin-2 receptor. Nature 312: 768-771, 1984.
[0032588]23176.Ferrari, S.; Cannizzaro, L. A.; Battini, R.; Huebner, K.; Baserga, R.: The gene encoding human vimentin is located on the short arm of chromosome 10. Am. J. Hum. Genet. 41: 616-626, 1987.
[0032589]23177.Greene, W. C.; Leonard, W. J.; Depper, J. M.; Nelson, D. L.; Waldmann, T. A.: The human interleukin-2 receptor: normal and abnormal expression in T cells and in leukemias induced by the human T-lymphotropic retroviruses. Ann. Intern. Med. 105: 560-572, 1986.
[0032590]23178.Hatakeyama, M.; Minamoto, S.; Taniguchi, T.: Intracytoplasmic phosphorylation sites of Tac antigen (p55) are not essential for the conformation, function, and regulation of the human interleukin 2 receptor. Proc. Nat. Acad. Sci. 83: 9650-9654, 1986.
[0032591]23179.Hatakeyama, M.; Minamoto, S.; Uchiyama, T.; Hardy, R. R.; Yamada, G.; Taniguchi, T.: Reconstitution of functional receptor for human interleukin-2 in mouse cells. Nature 318: 467-470, 1985.
[0032592]23180.Ihle, J. N.; Kerr, I. M.: Jaks and Stats in signaling by the cytokine receptor superfamily. Trends Genet. 11: 69-74, 1995.
[0032593]23181.Ishida, N.; Kanamori, H.; Noma, T.; Nikaido, T.; Sabe, H.; Suzuki, N.; Shimizu, A.; Honjo, T.: Molecular cloning and structure of the human interleukin 2 receptor gene. Nucleic Acids Res. 13: 7579-7589, 1985.
[0032594]23182.Kondo, S.; Shimizu, A.; Maeda, M.; Tagaya, Y.; Yodoi, J.; Honjo, T.: Expression of functional human interleukin-2 receptor in mouse T cells by cDNA transfection. Nature 320: 75-77, 1986.
[0032595]23183.Leonard, W. J.; Depper, J. M.; Crabtree, G. R.; Rudikoff, S.; Pumphrey, J.; Robb, R. J.; Kronke, M.; Svetlik, P. B.; Peffer, N. J.; Waldmann, T. A.; Greene, W. C.: Molecular cloning and expression of cDNAs for the human interleukin-2 receptor. Nature 311: 626-631, 1984.
[0032596]23184.Lekanne Deprez, R. H.; Riegman, P. H. J.; Groen, N. A.; Warringa, U. L.; van Biezen, N. A.; Molijn, A. C.; Bootsma, D.; de Jong, P. J.; Menon, A. G.; Kley, N. A.; Seizinger, B. R.; Zwarthoff, E. C. : Cloning and characterization of MN1, a gene from chromosome 22q11, which is disrupted by a balanced translocation in a meningioma. Oncogene 10: 1521-1528, 1995.
[0032597]23185.Dahia, P. L. M.; Aguiar, R. C. T.; Alberta, J.; Kum, J. B.; Caron, S.; Sill, H.; Marsh, D. J.; Ritz, J.; Freedman, A.; Stiles, C.; Eng, C.: PTEN is inversely correlated with the cell survival factor Akt/PKB and is inactivated via multiple mechanisms in haematological malignancies. Hum. Molec. Genet. 8: 185-193, 1999.
[0032598]23186.Bryson, G. L. M.; Massa, H.; Trask, B. J.; Van Etten, R. L.: Gene structure, sequence, and chromosomal localization of the human red cell-type low molecular weight acid phosphotyrosyl phosphatase gene, ACP1. Genomics 30: 133-140, 1995.
[0032599]23187.Chen, T.-R.; McMorris, F. A.; Creagan, R.; Ricciuti, F. C.; Tischfield, J.; Ruddle, F. H.: Assignment of the genes for malate oxidoreductase decarboxylating to chromosome 6 and peptidase B and lactate dehydrogenase B to chromosome 12 in man. Am. J. Hum. Genet. 25: 200-207, 1973.
[0032600]23188.Hamerton, J. L.; Mohandas, T.; McAlpine, P. J.; Douglas, G. R. : Localization of human gene loci using spontaneous chromosome rearrangements in human-Chinese hamster somatic cell hybrids. Am. J. Hum. Genet. 27: 595-608, 1975.
[0032601]23189.Herbschleb-Voogt, E.; Meera Khan, P.: Defining the locus of origin of a genetically determined electrophoretic variant of a multilocus enzyme system; the Calcutta-1 of human LDH system is a B-locus variant. Hum. Genet. 57: 290-295, 1981.
[0032602]23190.Houki, N.; Matsushima, Y.; Kitamura, M.; Tukada, T.; Nishina, T.; Nakayama, T.: A case of deficiency of lactate dehydrogenase H-subunit. Jpn. J. Clin. Chem. 15: 85-90, 1986.
[0032603]23191.Kitamura, M.; Iijima, N.; Hashimoto, F.; Hiratsuka, A.: Hereditary deficiency of subunit H of lactate dehydrogenase. Clin. Chim. Acta 34: 419-423, 1971.
[0032604]23192.Maekawa, M.; Sudo, K.; Kitajima, M.; Matsuura, Y.; Li, S. S.-L.; Kanno, T.: Analysis of a genetic mutation in an electrophoretic variant of the human lactate dehydrogenase-B(H) subunit. Hum. Genet. 91: 423-426, 1993.
[0032605]23193.Maekawa, M.; Sudo, K.; Nagura, K.; Li, S. S.-L.; Kanno, T.: Population screening of lactate dehydrogenase deficiencies in Fukuoka Prefecture in Japan and molecular characterization of three independent mutations in the lactate dehydrogenase-B(H) gene. Hum. Genet. 93: 74-76, 1994.
[0032606]23194.Malpuech, G.; Kaplan, J. C.; Rethore, M. O.; Junien, C.; Geneix, A.: Une observation de deletion partielle du bras court du chromosome 12: localisation du gene de la lacticodeshydrogenase B. Lyon Med. 233: 275-279, 1975.
[0032607]23195.Mayeda, K.; Weiss, L.; Lindahl, R.; Dully, M.: Localization of the human lactate dehydrogenase B gene on the short arm of chromosome 12. Am. J. Hum. Genet. 26: 59-64, 1974.
[0032608]23196.Miwa, S.; Nishima, T.; Kanehashi, Y.; Kitamura, M.; Hiratsuka, A.; Shizume, K.: Studies on erythrocyte metabolism in a case with hereditary deficiency of H-subunit of lactate dehydrogenase. Acta Haemat. Jpn. 34: 228-232, 1971.
[0032609]23197.Bell, D. W.; Varley, J. M.; Szydlo, T. E.; Kang, D. H.; Wahrer, D. C. R.; Shannon, K. E.; Lubratovich, M.; Verselis, S. J.; Isselbacher, K. J.; Fraumeni, J. F.; Birch, J. M.; Li, F. P.; Garber, J. E.; Haber, D. A.: Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome. Science 286: 2528-2531, 1999.
[0032610]23198.Birch, J. M.; Hartley, A. L.; Tricker, K. J.; Prosser, J.; Condie, A.; Kelsey, A. M.; Harris, M.; Jones, P. H. M.; Binchy, A.; Crowther, D.; Craft, A. W.; Eden, O. B.; Evans, D. G. R.; Thompson, E.; Mann, J. R.; Martin, J.; Mitchell, E. L. D.; Santibanez-Koref, M. F.: Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families. Cancer Res. 54: 1298-1304, 1994.
[0032611]23199.Goy, A.; Gilles, F.; Remache, Y.; Zelenetz, A. D.: Physical linkage of the lysyl oxidase-like (LOXL1) gene to the PML gene on human chromosome 15q22. Cytogenet. Cell Genet. 88: 22-24, 2000.
[0032612]23200.Kenyon, K.; Modi, W. S.; Contente, S.; Friedman, R. M.: A novel human cDNA with a predicted protein similar to lysyl oxidase maps to chromosome 15q24-q25. J. Biol. Chem. 268: 18435-18437, 1993.
[0032613]23201.Kim, Y.; Boyd, C. D.; Csiszar, K.: A new gene with sequence and structural similarity to the gene encoding human lysyl oxidase. J. Biol. Chem. 270: 7176-7182, 1995.
[0032614]23202.Wydner, K. S.; Kim, Y.; Csiszar, K.; Boyd, C. D.; Passmore, H. C.: An intron capture strategy used to identify and map a lysyl oxidase-like gene on chromosome 9 in the mouse. Genomics 40: 342-345, 1997.
[0032615]23203.Schmidt, B.; Servidei, S.; Gabbai, A. A.; Silva, A. C.; de Sousa Bulle de Oliveira, A.; DiMauro, S.: McArdle's disease in two generations: autosomal recessive transmission with manifesting heterozygote. Neurology 37: 1558-1561, 1987.
[0032616]23204.Arch, E. M.; Goodman, B. K.; Van Wesep, R. A.; Liaw, D.; Clarke, K.; Parsons, R.; McKusick, V. A.; Geraghty, M. T.: Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease. Am. J. Med. Genet. 71: 489-493, 1997.
[0032617]23205.Celebi, J. T.; Tsou, H. C.; Chen, F. F.; Zhang, H.; Ping, X. L.; Lebwohl, M. G.; Kezis, J.; Peacocke, M.: Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN. J. Med. Genet. 36: 360-364, 1999.
[0032618]23206.Dudek, H.; Datta, S. R.; Franke, T. F.; Birnbaum, M. J.; Yao, R.; Cooper, G. M.; Segal, R. A.; Kaplan, D. R.; Greenberg, M. E.: Regulation of neuronal survival by the serine-threonine protein kinase Akt. Science 275: 661-663, 1997.
[0032619]23207.Franke, T. F.; Kaplan, D. R.; Cantley, L. C.; Toker, A.: Direct regulation of the Akt proto-oncogene product by phosphatidylinositol-3,4-bisphosphate. Science 275: 665-667, 1997.
[0032620]23208.Franke, T. F.; Yang, S.-I.; Chan, T. O.; Datta, K.; Kaziauskas, A.; Morrison, D. K.; Kaplan, D. R.; Tsichlis, P. N.: The protein kinase encoded by the Akt proto-oncogene is a target of the PDGF-activated phosphatidylinositol 3-kinase. Cell 81: 727-736, 1995.
[0032621]23209.Furnari, F. B.; Huang, H. J.; Cavenee, W. K.: The phosphoinositol phosphatase activity of PTEN mediates a serum-sensitive G1 growth arrest in glioma cells. Cancer Res. 58: 5002-5008, 1998.
[0032622]23210.Hajduch, E.; Litherland, G. J.; Hundal, H. S.: Protein kinase B (PKB/Akt)--a key regulator of glucose transport? FEBS Lett. 492: 199-203, 2001.
[0032623]23211.Hemmings, B. A.: Akt signaling: linking membrane events to life and death decisions. Science 275: 628-630, 1997.
[0032624]23212.Jones, P. F.; Jakubowicz, T.; Pitossi, F. J.; Maurer, F.; Hemmings, B. A.: Molecular cloning and identification of a serine/threonine protein kinase of the second-messenger subfamily. Proc. Nat. Acad. Sci. 88: 4171-4175, 1991.
[0032625]23213.Lee, M.-J.; Thangada, S.; Paik, J.-H.; Sapkota, G. P.; Ancellin, N.; Chae, S.-S.; Wu, M.; Morales-Ruiz, M.; Sessa, W. C.; Alessi, D. R.; Hla, T.: Akt-mediated phosphorylation of the G protein-coupled receptor EDG-1 is required for endothelial cell chemotaxis. Molec. Cell 8: 693-704, 2001.
[0032626]23214.Maira, S.-M.; Galetic, I.; Brazil, D. P.; Kaech, S.; Ingley, E.; Thelen, M.; Hemmings, B. A.: Carboxyl-terminal modulator protein (CTMP), a negative regulator of PKB/Akt and v-Akt at the plasma membrane. Scien ce 294: 374-380, 2001.
[0032627]23215.Powell, D. W.; Rane, M. J.; Chen, Q.; Singh, S.; McLeish, K. R. : Identification of 14-3-3-zeta as a protein kinase B/Akt substrate. J. Biol. Chem. 277: 21639-21642, 2002.
[0032628]23216.Staal, S. P.: Molecular cloning of the akt oncogene and its human homologues AKT1 and AKT2: amplification of AKT1 in a primary human gastric adenocarcinoma. Proc. Nat. Acad. Sci. 84: 5034-5037, 1987.
[0032629]23217.Staal, S. P.; Huebner, K.; Croce, C. M.; Parsa, N. Z.; Testa, J. R.: The AKT1 protooncogene maps to human chromosome 14, band q32. Genomics 2: 96-98, 1988.
[0032630]23218.Vanhaesebroeck, B.; Alessi, D. R.: The PI3K-PDK1 connection: more than just a road to PKB. Biochem. J. 346: 561-576, 2000.
[0032631]23219.Weng, L.-P.; Brown, J. L.; Eng, C.: PTEN induces apoptosis and cell cycle arrest through phosphoinositol-3-kinase/Akt-dependent and -independent pathways. Hum. Molec. Genet. 10: 237-242, 2001.
[0032632]23220.Yang, J.; Cron, P.; Thompson, V.; Good, V. M.; Hess, D.; Hemmings, B. A.; Barford, D.: Molecular mechanism for the regulation of protein kinase B/Akt by hydrophobic motif phosphorylation. Molec. Cell 9: 1227-1240, 2002.
[0032633]23221.Le Beau, M. M.; Rowley, J. D.; Sacchi, N.; Watson, D. K.; Papas, T. S.; Diaz, M. O.: Hu-ets-2 is translocated to chromosome 8 in the t(8;21) in acute myelogenous leukemia. Cancer Genet. Cytogenet. 23: 269-274, 1986.
[0032634]23222.Mavrothalassitis, G. J.; Watson, D. K.; Papas, T. S.: Molecular and functional characterization of the promoter of ETS2, the human c-ets-2 gene. Proc. Nat. Acad. Sci. 87: 1047-1051, 1990.
[0032635]23223.Sacchi, N.; Cheng, S. V.; Tanzi, R. E.; Gusella, J. F.; Drabkin, H. A.; Patterson, D.; Haines, J. H.; Papas, T. S.: The ETS genes on chromosome 21 are distal to the breakpoint of the acute myelogenous leukemia translocation (8;21). Genomics 3: 110-116, 1988.
[0032636]23224.Sumarsono, S. H.; Wilson, T. J.; Tymms, M. J.; Venter, D. J.; Corrick, C. M.; Kola, R.; Lahoud, M. H.; Papas, T. S.; Seth, A.; Kola, I.: Down's syndrome-like skeletal abnormalities in Ets2 transgenic mice. Nature 379: 534-540, 1996.
[0032637]23225.Chu, E. H. Y.; Chang, C. C.; Sun, N. C.: Synteny of the human genes for gal-1-PT, ACP-1, MDH-1, and gal-plus-activator and assignment to chromosome 2. Birth Defects Orig. Art. Ser. XI(3): 103-106, 1975. Note: Alternate: Cytogenet. Cell Genet. 14: 273-276, 1975...
[0032638]23226.Rasmussen, S. K.; Lautier, C.; Hansen, L.; Echwald, S. M.; Hansen, T.; Ekstrom, C. T.; Urhammer, S. A.; Borch-Johnsen, K.; Grigorescu, F.; Smith, R. J.; Pedersen, O.: Studies of the variability of the genes encoding the insulin-like growth factor I receptor and its ligand in relation to type 2 diabetes mellitus. J. Clin. Endocr. Metab. 85: 1606-1610, 2000.
[0032639]23227.Dissing, J.; Johnsen, A. H.: Human red cell acid phosphatase (ACP1): the primary structure of the two pairs of isozymes encoded by the ACP1*A and ACP1*C alleles. Biochim. Biophys. Acta 1121: 261-268, 1992.
[0032640]23228.Dissing, J.; Johnsen, A. H.; Sensabaugh, G. F.: Human red cell acid phosphatase (ACP1): the amino acid sequence of the two isozymes Bf and Bs encoded by the ACP1*B allele. J. Biol. Chem. 266: 20619-20625, 1991.
[0032641]23229.Emanuel, B. S.; Zackai, E. H.; Van Dyke, D. C.; Swallow, D. M.; Allen, F. H.; Mellman, W. J.: Deletion mapping: further evidence for the location of acid phosphatase (ACP-1) within 2p23. Am. J. Med. Genet. 4: 167-172, 1979.
[0032642]23230.Ferguson-Smith, M. A.; Newman, B. F.; Ellis, P. M.; Thomson, D. M. G.; Riley, I. D.: Assignment by deletion of human red cell acid phosphatase gene locus to the short arm of chromosome 2. Nature 243: 271-273, 1973.
[0032643]23231.Fisher, R. A.; Harris, H.: Studies on the separate isoenzymes of red cell acid phosphatase phenotypes A and B: chromatographic separation of the isoenzymes. Ann. Hum. Genet. 34: 431-438, 1971.
[0032644]23232.Fuhrmann, W.; Lichte, K. H.: Human red cell acid phosphatase polymorphism: a study on gene frequency and forensic use of the system in cases of disputed paternity. Humangenetik 3: 121-126, 1966.
[0032645]23233.Giblett, E. R.; Scott, N. M.: Red cell acid phosphatase: racial distribution and report of a new phenotype. Am. J. Hum. Genet. 17: 425-432, 1965.
[0032646]23234.Herbich, J.; Fisher, R. A.; Hopkinson, D. A.: Atypical segregation of human red cell acid phosphatase phenotypes: evidence for a rare 'silent' allele P(O). Ann. Hum. Genet. 34: 145-152, 1970.
[0032647]23235.Herbich, J.; Meinhart, K.: The rare 'silent' allele P(O) or P(V) (P Vienna) of human red cell acid phosphatase, typed in a second family. Humangenetik 15: 345-348, 1972.
[0032648]23236.Hopkinson, D. A.; Spencer, N.; Harris, H.: Red cell acid phosphatase variants: a new human polymorphism. Nature 199: 969-971, 1963.
[0032649]23237.Hulten, M.; Lindsten, J.; Pen-Ming, L. M.; Fraccaro, M.; Mannini, A.; Tiepolo, L.; Robson, E. B.; Heiken, A.; Tillinger, K. G.: Possible localization of the genes for the Kidd blood group on an autosome involved in a reciprocal translocation. Nature 211: 1067-1068, 1966.
[0032650]23238.Junien, C.; Kaplan, J.-C.; Bernheim, A.; Berger, R.: Regional assignment of red cell acid phosphatase locus to band 2p25. Hum. Genet. 48: 17-21, 1979.
[0032651]23239.Karp, G. W., Jr.; Sutton, H. E.: Some new phenotypes of human red cell acid phosphatase. Am. J. Hum. Genet. 19: 54-62, 1967.
[0032652]23240.Lothe, R. A.; Gedde-Dahl, T.; Olaisen, B.; Bakker, E.; Pearson, P.: Very close linkage between D2S1 and ACP1 on chromosome 2p. Ann. Hum. Genet. 50: 361-367, 1986.
[0032653]23241.Mace, M. A.; Cook, P. J. L.; Robson, E. B.: Linkage data on red cell acid phosphatase from family studies. Ann. Hum. Genet. 38: 471-477, 1975.
[0032654]23242.Mace, M. A.; Robson, E. B.: Linkage data on ACP-1 and MNSs. Cytogenet. Cell Genet. 13: 123-125, 1974.
[0032655]23243.Magenis, R. E.; Koler, R. D.; Lovrien, E. W.; Bigley, R. H.; Duval, M. C.; Overton, K. M.: Gene dosage: evidence for assignment of erythrocyte acid phosphatase locus to chromosome 2. Proc. Nat. Acad. Sci. 72: 4526-4530, 1975.
[0032656]23244.Mayr, W. R.: No close linkage between MNSs and red cell acid phosphatase. Hum. Hered. 26: 1-3, 1976.
[0032657]23245.Miller, S. A.; Nelson, M. S.; Dykes, D. D.; Polesky, H. F.: Comparison of acid phosphatase ACP1 variants by isoelectric focusing and conventional electrophoresis: identification of three new alleles, ACP1*N, ACP1*P and ACP1*S. Hum. Hered. 37: 371-375, 1987.
[0032658]23246.Mohrenweiser, H. W.; Novotny, J. E.: ACP-1-GUA-1: a low-activity variant of human erythrocyte acid phosphatase: association with increased glutathione reductase activity. Am. J. Hum. Genet. 34: 425-433, 1982.
[0032659]23247.Nezbeda, P.: Occurrence of the ACP-1 null allele in Czechoslovakia. Hum. Genet. 46: 227-229, 1979.
[0032660]23248.Palmarino, R.; Agostino, R.; Gloria, F.; Lucarelli, P.; Businco, L.; Antognoni, G.; Maggioni, G.; Workman, P. L.; Bottini, E.: Red cell acid phosphatase: another polymorphism correlated with malaria? Am. J. Phys. Anthrop. 43: 177-186, 1975.
[0032661]23249.Povey, S.; Swallow, D. M.; Bobrow, M.; Craig, I.; Van Heyningen, V.: Probable assignment of the locus determining human red cell acid phosphatase ACP(1) to chromosome 2 using somatic cell hybrids. Ann. Hum. Genet. 38: 1-5, 1974.
[0032662]23250.Renwick, J. H.: Assignment and map-positioning of human loci using chromosomal variation. Ann. Hum. Genet. 35: 79-97, 1971.
[0032663]23251.Sensabaugh, G. F.; Golden, V. L.: Phenotype dependence in the inhibition of red cell acid phosphatase (ACP) by folates. Am. J. Hum. Genet. 30: 553-560, 1978.
[0032664]23252.Swallow, D. M.; Povey, S.; Harris, H.: Activity of the 'red cell' acid phosphatase locus in other tissues. Ann. Hum. Genet. 37: 31-38, 1973.
[0032665]23253.Wu, R. M.; Cheng, C. W.; Chen, K. H.; Lu, S. L.; Shan, D. E.; Ho, Y. F.; Chern, H. D.: The COMT L allele modifies the association between MAOB polymorphism and PD in Taiwanese. Neurology 56: 375-382, 2001.
[0032666]23254.Leonard, W. J.; Depper, J. M.; Kanehisa, M.; Kronke, M.; Peffer, N. J.; Svetlik, P. B.; Sullivan, M.; Greene, W. C.: Structure of the human interleukin-2 receptor gene. Science 230: 633-639, 1985.
[0032667]23255.Leonard, W. J.; Depper, J. M.; Robb, R. J.; Waldmann, T. A.; Greene, W. C.: Characterization of the human receptor for T-cell growth factor. Proc. Nat. Acad. Sci. 80: 6957-6961, 1983.
[0032668]23256.Marx, J. L.: The interleukin-2 receptor gene is cloned. Science 226: 1064-1065, 1985.
[0032669]23257.Nikaido, T.; Shimizu, A.; Ishida, N.; Sabe, H.; Teshigawara, K.; Maeda, M.; Uchiyama, T.; Yodoi, J.; Honjo, T.: Molecular cloning of a cDNA encoding human interleukin-2 receptor. Nature 311: 631-635, 1984.
[0032670]23258.Robb, R. J.; Rusk, C. M.; Neeper, M. P.: Structure-function relationships for the interleukin 2 receptor: location of ligand and antibody binding sites on the Tac receptor chain by mutational analysis. Proc. Nat. Acad. Sci. 85: 5654-5658, 1988.
[0032671]23259.Sharfe, N.; Dadi, H. K.; Shahar, M.; Roifman, C. M.: Human immune disorder arising from mutation of the alpha chain of the interleukin-2 receptor. Proc. Nat. Acad. Sci. 94: 3168-3171, 1997.
[0032672]23260.Shevach, E. M.: Certified professionals: CD4(+)CD25(+) suppressor T cells. J. Exp. Med. 193: F41-F45, 2001.
[0032673]23261.Tsudo, M.; Kozak, R. W.; Goldman, C. K.; Waldmann, T. A.: Demonstration of a non-Tac peptide that binds interleukin 2: a potential participant in a multichain interleukin 2 receptor complex. Proc. Nat. Acad. Sci. 83: 9694-9698, 1986.
[0032674]23262.Urdal, D. L.; March, C. J.; Gillis, S.; Larsen, A.; Dower, S. K.: Purification and chemical characterization of the receptor for interleukin 2 from activated human T lymphocytes and from a human T-cell lymphoma cell line. Proc. Nat. Acad. Sci. 81: 6481-6485, 1984.
[0032675]23263.Mohrenweiser, H. W.; Neel, J. V.: Frequency of thermostability variants: estimation of total 'rare' variant frequency in human populations. Proc. Nat. Acad. Sci. 78: 5729-5733, 1981.
[0032676]23264.Farrer, L. A.; Conneally, P. M.: A genetic model for age at onset in Huntington disease. Am. J. Hum. Genet. 37: 350-357, 1985.
[0032677]23265.Farrer, L. A.; Conneally, P. M.; Yu, P.: The natural history of Huntington disease: possible role of 'aging genes.'. Am. J. Med. Genet. 18: 115-123, 1984.
[0032678]23266.Farrer, L. A.; Cupples, L. A.; Wiater, P.; Conneally, P. M.; Gusella, J. F.; Myers, R. H.: The normal Huntington disease (HD) allele, or a closely linked gene, influences age at onset of HD. Am. J. Hum. Genet. 53: 125-130, 1993.
[0032679]23267.Ferrante, R. J.; Kowall, N. W.; Beal, M. F.; Richardson, E. P., Jr.; Bird, E. D.; Martin, J. B.: Selective sparing of a class of striatal neurons in Huntington's disease. Science 230: 561-563, 1985.
[0032680]23268.Folstein, S.; Abbott, M.; Moser, R.; Parhad, I.; Clark, A.; Folstein, M.: A phenocopy of Huntington's disease: lacunar infarcts of the corpus striatum. Johns Hopkins Med. J. 148: 104-108, 1981.
[0032681]23269.Folstein, S. E.; Abbott, M. H.; Franz, M. L.; Huang, S.; Chase, G. A.; Folstein, M. F.: Phenotypic heterogeneity in Huntington disease. J. Neurogenet. 1: 175-184, 1984.
[0032682]23270.Folstein, S. E.; Chase, G. A.; Wahl, W. E.; McDonnell, A. M.; Folstein, M. F.: Huntington disease in Maryland: clinical aspects of racial variation. Am. J. Hum. Genet. 41: 168-179, 1987.
[0032683]23271.Folstein, S. E.; Phillips, J. A., III; Meyers, D. A.; Chase, G. A.; Abbott, M. H.; Franz, M. L.; Waber, P. G.; Kazazian, H. H., Jr.; Conneally, P. M.; Hobbs, W.; Tanzi, R.; Faryniarz, A.; Gibbons, K.; Gusella, J.: Huntington's disease: two families with differing clinical features show linkage to the G8 probe. Science 229: 776-779, 1985.
[0032684]23272.Freeman, T. B.; Cicchetti, F.; Hauser, R. A.; Deacon, T. W.; Li, X.-J.; Hersch, S. M.; Nauert, G. M.; Sanberg, P. R.; Kordower, J. H.; Saporta, S.; Isacson, O.: Transplanted fetal striatum in Huntington's disease: phenotypic development and lack of pathology. Proc. Nat. Acad. Sci. 97: 13877-13882, 2000.
[0032685]23273.Froster-Iskenius, U. G.; Hayden, M. R.; Wang, H. S.; Kalousek, D. K.; Horsman, D.; Pfeiffer, R. A.; Schottky, A.; Schwinger, E.: A family with Huntington disease and reciprocal translocation 4;5. Am. J. Hum. Genet. 38: 759-767, 1986.
[0032686]23274.Gellera, C.; Meoni, C.; Castellotti, B.; Zappacosta, B.; Girotti, F.; Taroni, F.; DiDonato, S.: Errors in Huntington disease diagnostic test caused by trinucleotide deletion in the IT15 gene. (Letter) Am. J. Hum. Genet. 59: 475-477, 1996.
[0032687]23275.Gervais, F. G.; Singaraja, R.; Xanthoudakis, S.; Gutekunst, C.-A.; Leavitt, B. R.; Metzler, M.; Hackam, A. S.; Tam, J.; Vaillancourt, J. P.; Houtzager, V.; Rasper, D. M.; Roy, S.; Hayden, M. R.; Nicholson, D. W.: Recruitment and activation of caspase-8 by the huntingtin-interacting protein Hip-1 and a novel partner Hippi. Nature Cell Biol. 4: 95-105, 2002.
[0032688]23276.Gilliam, T. C.; Bucan, M.; MacDonald, M. E.; Zimmer, M.; Haines, J. L.; Cheng, S. V.; Pohl, T. M.; Meyers, R. H.; Whaley, W. L.; Allitto, B. A.; Faryniarz, A.; Wasmuth, J. J.; Frischauf, A.-M.; Conneally, P. M.; Lehrach, H.; Gusella, J. F.: A DNA segment encoding two genes very tightly linked to Huntington's disease. Science 238: 950-952, 1987.
[0032689]23277.Gilliam, T. C.; Tanzi, R. E.; Haines, J. L.; Bonner, T. I.; Faryniarz, A. G.; Hobbs, W. J.; MacDonald, M. E.; Cheng, S. V.; Folstein, S. E.; Conneally, P. M.; Wexler, N. S.; Gusella, J. F.: Localization of the Huntington's disease gene to a small segment of chromosome 4 flanked by D4S10 and the telomere. Cell 50: 565-571, 1987.
[0032690]23278.Giordani, B.; Berent, S.; Boivin, M. J.; Penney, J. B.; Lehtinen, S.; Markel, D. S.; Hollingsworth, Z.; Butterbaugh, G.; Hichwa, R. D.; Gusella, J. F.; Young, A. B.: Longitudinal neuropsychological and genetic linkage analysis of persons at risk for Huntington's disease. Arch. Neurol. 52: 59-64, 1995.
[0032691]23279.Goetz, I.; Roberts, E.; Comings, D. E.: Fibroblasts in Huntington's disease. New Eng. J. Med. 293: 1225-1227, 1975.
[0032692]23280.Goldberg, Y. P.; Andrew, S. E.; Theilmann, J.; Kremer, B.; Squitieri, F.; Telenius, H.; Brown, J. D.; Hayden, M. R.: Familial predisposition to recurrent mutations causing Huntington's disease: genetic risk to sibs of sporadic cases. J. Med. Genet. 30: 987-990, 1993.
[0032693]23281.Goldberg, Y. P.; Kalchman, M. A.; Metzler, M.; Nasir, J.; Zeisler, J.; Graham, R.; Koide, H. B.; O'Kusky, J.; Sharp, A. H.; Ross, C. A.; Jirik, F.; Hayden, M. R.: Absence of disease phenotype and intergenerational stability of the CAG repeat in transgenic mice expressing the human Huntington disease transcript. Hum. Molec. Genet. 5: 177-185, 1996.
[0032694]23282.Goldberg, Y. P.; Nicholson, D. W.; Rasper, D. M.; Kalchman, M. A.; Koide, H. B.; Graham, R. K.; Bromm, M.; Kazemi-Esfarjani, P.; Thornberry, N. A.; Vaillancourt, J. P.; Hayden, M. R.: Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract. Nature Genet. 13: 442-449, 1996.
[0032695]23283.Goldberg, Y. P.; Rommens, J. M.; Andrew, S. E.; Hutchinson, G. B.; Lin, B.; Theilmann, J.; Graham, R.; Glaves, M. L.; Starr, E.; McDonald, H.; Nasir, J.; Schappert, K.; Kalchman, M. A.; Clarke, L. A.; Hayden, M. R.: Identification of an Alu retrotransposition event in close proximity to a strong candidate gene for Huntington's disease. Nature 362: 370-373, 1993.
[0032696]23284.Green, H.: Human genetic diseases due to codon reiteration: relationship to an evolutionary mechanism. Cell 74: 955-956, 1993.
[0032697]23285.Greenberg, L. J.; Martell, R. W.; Theilman, J.; Hayden, M. R.; Joubert, J.: Genetic linkage between Huntington disease and the D4S10 locus in South African families: further evidence against non-allelic heterogeneity. Hum. Genet. 87: 701-708, 1991.
[0032698]23286.Gu, M.; Gash, M. T.; Mann, V. M.; Javoy-Agid, F.; Cooper, J. M.; Schapira, A. H. V.: Mitochondrial defect in Huntington's disease caudate nucleus. Ann. Neurol. 39: 385-389, 1996.
[0032699]23287.Gusella, J.; Tanzi, R. E.; Bader, P. I.; Phelan, M. C.; Stevenson, R.; Hayden, M. R.; Hofman, K. J.; Faryniarz, A. G.; Gibbons, K.: Deletion of Huntington's disease linked G8 (D4S10) locus in Wolf-Hirschhorn syndrome. Nature 318: 75-78, 1985.
[0032700]23288.Gusella, J. F.; Gibbons, K.; Hobbs, W.; Heft, R.; Anderson, M.; Rashtchian, R.; Folstein, S.; Wallace, P.; Conneally, P. M.; Tanzi, R.: The G8 locus linked to Huntington's disease. (Abstract) Am. J. Hum. Genet. 36: 139S, 1984.
[0032701]23289.Gusella, J. F.; McNeil, S.; Persichetti, F.; Srinidhi, J.; Novelletto, A.; Bird, E.; Faber, P.; Vonsattel, J.-P.; Myers, R. H.; MacDonald, M. E.: Huntington's disease. Cold Spring Harbor Symp. Quant. Biol. 61: 615-626, 1996.
[0032702]23290.Dey, B. R.; Furlanetto, R. W.; Nissley, S. P.: Cloning of human p55-gamma, a regulatory subunit of phosphatidylinositol 3-kinase, by a yeast two-hybrid library screen with the insulinlike growth factor-I receptor. Gene 209: 175-183, 1998.
[0032703]23291.Francke, U.; Yang-Feng, T. L.; Brissenden, J. E.; Ullrich, A.: Chromosomal mapping of genes involved in growth control. Cold Spring Harbor Symp. Quant. Biol. 51: 855-866, 1986.
[0032704]23292.Maor, S. B.; Abramovitch, S.; Erdos, M. R.; Brody, L. C.; Werner, H.: BRCA1 suppresses insulin-like growth factor-I receptor promoter activity: potential interaction between BRCA1 and Sp1. Molec. Genet. Metab. 69: 130-136, 2000.
[0032705]23293.Poduslo, S. E.; Dean, M.; Kolch, U.; O'Brien, S. J.: Detecting high-resolution polymorphisms in human coding loci by combining PCR and single-strand conformation polymorphism (SSCP) analysis. Am. J. Hum. Genet. 49: 106-111, 1991.
[0032706]23294.Okumura, N.; Terasawa, F.; Ueno, I.; Oki, K.; Yamauchi, K.; Hidaka, H.; Tozuka, M.; Okura, M.; Katsuyama, T.: Genetic analyses in homozygous and heterozygous variants of lactate dehydrogenase-B (H) subunit: LD-B Matsumoto I and II (LD-B W323R). Clin. Chim. Acta 287: 163-171, 1999.
[0032707]23295.Rethore, M.-O.; Junien, C.; Malpuech, G.; Baccichetti, C.; Tenconi, R.; Kaplan, J. C.; de Romeuf, J.; Lejeune, J.: Localisation du gene de la glyceraldehyde 3-phosphate dehydrogenase (G3PD) sur le segment distal du bras court du chromosome 12. Ann. Genet. 19: 140-142, 1976.
[0032708]23296.Rethore, M.-O.; Kaplan, J.-C.; Junien, C.; Cruveiller, J.; Dutrillaux, B.; Aurias, A.; Carpentier, S.; Lafourcade, J.; Lejeune, J.: Augmentation de l'activite de la LDH-B chez un garcon trisomique 12p par malsegregation d'une translocation maternelle t(12;14)(q12;p11). Ann. Genet. 18: 81-87, 1975.
[0032709]23297.Sakai, I.; Sharief, F. S.; Pan, Y.-C. E.; Li, S. S.-L.: The cDNA and protein sequences of human lactate dehydrogenase B. Biochem. J. 248: 933-936, 1987.
[0032710]23298.Santachiara, A. S.; Nabholz, M.; Miggiano, V.; Darlington, A. J.; Bodmer, W. F.: Linkage between human lactate dehydrogenase B and peptidase B genes. Nature 227: 248-251, 1970.
[0032711]23299.Steinbach, P.; Rehder, H.: Tetrasomy for the short arm of chromosome 12 with accessory isochromosome (+i[12p]) and a marked LDH-B gene dosage effect. Clin. Genet. 32: 1-4, 1987.
[0032712]23300.Sudo, K.: Personal Communication. Komae City, Japan 7/12/1993.
[0032713]23301.Sudo, K.; Maekawa, M.; Ikawa, S.; Machida, K.; Kitamura, M.; Li, S. S.-L.: A missense mutation found in human lactate dehydrogenase-B (H) variant gene. Biochem. Biophys. Res. Commun. 168: 672-676, 1990.
[0032714]23302.Sudo, K.; Maekawa, M.; Luedemann, M. M.; Deaven, L. L.; Li, S. S.-L.: Human lactate dehydrogenase-B processed pseudogene: nucleotide sequence analysis and assignment to the Xchromosome. Biochem. Biophys. Res. Commun. 171: 67-74, 1990.
[0032715]23303.Sudo, K.; Maekawa, M.; Tomonaga, A.; Tsukada, T.; Nakayama, T.; Kitamura, M.; Li, S. S.-L.; Kanno, T.; Toriumi, J.: Molecular characterization of genetic mutations in human lactate dehydrogenase (LDH)B (H) variant. Hum. Genet. 89: 158-162, 1992.
[0032716]23304.Van Someren, H.; Meera Khan, P.; Westerveld, A.; Bootsma, D.: Human genetics--two new linkage groups carrying different loci for LDH and glutamic-pyruvic transaminase found. Nature 240: 221-222, 1972.
[0032717]23305.Weiss, L.; Mayeda, K.; Lindahl, R.; Dully, M.: Localization of human LDH-B gene of the short arm of chromosome 12. (Abstract) Am. J. Hum. Genet. 25: 85A only, 1973.
[0032718]23306.Askew, D. S.; Bartholomew, C.; Buchberg, A. M.; Valentine, M. B.; Jenkins, N. A.; Copeland, N. G.; Ihle, J. N.: His-1 and His-2: identification and chromosomal mapping of two commonly rearranged sites of viral integration in a myeloid leukemia. Oncogene 6: 2041-2047, 1991.
[0032719]23307.Zhong, S.; Delva, L.; Rachez, C.; Cenciarelli, C.; Gandini, D.; Zhang, H.; Kalantry, S.; Freedman, L. P.; Pandolfi, P. P.: A RA-dependent, tumour-growth suppressive transcription complex is the target of the PML-RAR-alpha and T18 oncoproteins. Nature Genet. 23: 287-295, 1999.
[0032720]23308.Kamb, A.; Gruis, N. A.; Weaver-Feldhaus, J.; Liu, Q.; Harshman, K.; Tavtigian, S. V.; Stockert, E.; Day, R. S., III; Johnson, B. E.; Skolnick, M. H.: A cell cycle regulator potentially involved in genesis of many tumor types. Science 264: 436-440, 1994.
[0032721]23309.Bonner, T.; O'Brien, S. J.; Nash, W. G.; Rapp, U. R.; Morton, C. C.; Leder, P.: The human homologs of the raf (mil) oncogene are located on human chromosomes 3 and 4. Science 223: 71-74, 1984.
[0032722]23310.Bonner, T. I.; Kerby, S. B.; Sutrave, P.; Gunnell, M. A.; Mark, G.; Rapp, U. R.: Structure and biological activity of human homologs of the raf/mil oncogene. Molec. Cell. Biol. 5: 1400-1407, 1985.
[0032723]23311.Bonner, T. I.; Oppermann, H.; Seeburg, P.; Kerby, S. B.; Gunnell, M. A.; Young, A. C.; Rapp, U. R.: The complete coding sequence of the human raf oncogene and the corresponding structure of the c-raf-1 gene. Nucleic Acids Res. 14: 1009-1015, 1986.
[0032724]23312.Bonner, T. I.; Rapp, U. R.; Nash, W. G.; O'Brien, S. J.: Two human homologues to a new retroviral oncogene raf-1 and raf-2 are assigned to human chromosomes 3 and 4, respectively. (Abstract) Cytogenet. Cell Genet. 37: 424, 1984.
[0032725]23313.Fukui, M.; Yamamoto, T.; Kawai, S.; Maruo, K.; Toyoshima, K.: Detection of a rafrelated and two other transforming DNA sequences in human tumors maintained in nude mice. Proc. Nat. Acad. Sci. 82: 5954-5958, 1985.
[0032726]23314.Hiroshige, S.; Carlock, L.; Smith, M.: Regional assignment of the RAF2 gene to the region 4pter-4p15. (Abstract) Am. J. Hum. Genet. 39: A157, 1986.
[0032727]23315.Hopyan, S.; Gokgoz, N.; Poon, R.; Gensure, R. C.; Yu, C.; Cole, W. G.; Bell, R. S.; Juppner, H.; Andrulis, I. L.; Wunder, J. S.; Alman, B. A.: A mutant PTH/PTHrP type I receptor in enchondromatosis. Nature Genet. 30: 306-310, 2002.
[0032728]23316.Sakamoto, O.; Iwama, A.; Amitani, R.; Takehara, T.; Yamaguchi, N.; Yamamoto, T.; Masuyama, K.; Yamanaka, T.; Ando, M.; Suda, T.: Role of macrophage-stimulating protein and its receptor, RON tyrosine kinase, in ciliary motility. J. Clin. Invest. 99: 701-709, 1997.
[0032729]23317.Fukuyama, R.; Ichijoh, Y.; Minoshima, S.; Kitamura, N.; Shimizu, N.: Assignment of hepatocyte growth factor (HGF) gene to chromosome 7q21.1. (Abstract) Cytogenet. Cell Genet. 58: 1921 only, 1991.
[0032730]23318.Fukuyama, R.; Ichijoh, Y.; Minoshima, S.; Kitamura, N.; Shimizu, N.: Regional localization of the hepatocyte growth factor (HGF) gene to human chromosome 7 band q21.1. Genomics 11: 410-415, 1991.
[0032731]23319.Gherardi, E.; Stoker, M.: Hepatocytes and scatter factor. Nature 346: 228 only, 1990.
[0032732]23320.Gohda, E.; Tsubouchi, H.; Nakayama, H.; Hirono, S.; Sakiyama, O.; Takahashi, K.; Miyazaki, H.; Hashimoto, S.; Daikuhara, Y.: Purification and partial characterization of hepatocyte growth factor from plasma of a patient with fulminant hepatic failure. J. Clin. Invest. 81: 414-419, 1988.
[0032733]23321.Kilby, M. D.; Afford, S.; Li, X. F.; Strain, A. J.; Ahmed, A.; Whittle, M. J.: Localisation of hepatocyte growth factor and its receptor (c-met) protein and mRNA in human term placenta. Growth Factors 13: 133-139, 1996.
[0032734]23322.Lai, L.; Goldschneider, I.: Cutting edge: identification of a hybrid cytokine consisting of IL-7 and the beta-chain of the hepatocyte growth factor/scatter factor. J. Immun. 167: 3550-3554, 2001.
[0032735]23323.Maina, F.; Casagranda, F.; Audero, E.; Simeone, A.; Comoglio, P. M.; Klein, R.; Ponzetto, C.: Uncoupling of Grb2 from the Met receptor in vivo reveals complex roles in muscle development. Cell 87: 531-542, 1996.
[0032736]23324.Miyazawa, K.; Tsubouchi, H.; Naka, D.; Takahashi, K.; Okigaki, M.; Arakaki, N.; Nakayama, H.; Hirono, S.; Sakiyama, O.; Takahashi, K.; Gohda, E.; Daikuhara, Y.; Kitamura, N.: Molecular cloning and sequence analysis of cDNA for human hepatocyte growth factor. Biochem. Biophys. Res. Commun. 163: 967-973, 1989.
[0032737]23325.Nakamura, T.; Nishizawa, T.; Hagiya, M.; Seki, T.; Shimonishi, M.; Sugimura, A.; Tashiro, K.; Shimizu, S.: Molecular cloning and expression of human hepatocyte growth factor. Nature 342: 440-443, 1989.
[0032738]23326.Noonan, F. P.; Recio, J. A.; Takayama, H.; Duray, P.; Anver, M. R.; Rush, W. L.; De Fabo, E. C.; Merlino, G.: Neonatal sunburn and melanoma in mice: severe sunburn in newborn, but not adult, mice is linked with melanoma in later life. Nature 413: 271-272, 2001.
[0032739]23327.Powell, E. M.; Mars, W. M.; Levitt, P.: Hepatocyte growth factor/scatter factor is a motogen for interneurons migrating from the ventral to dorsal telencephalon. Neuron 30: 79-89, 2001.
[0032740]23328.Rubin, J. S.; Chan, A. M.-L.; Bottaro, D. P.; Burgess, W. H.; Taylor, W. G.; Cech, A. C.; Hirschfield, D. W.; Wong, J.; Miki, T.; Finch, P. W.; Aaronson, S. A.: A broad-spectrum human lung fibroblast-derived mitogen is a variant of hepatocyte growth factor. Proc. Nat. Acad. Sci. 88: 415-419, 1991.
[0032741]23329.Saccone, S.; Narsimhan, R. P.; Gaudino, G.; Dalpra, L.; Comoglio, P. M.; Della Valle, G.: Regional mapping of the human hepatocyte growth factor (HGF)-scatter factor gene to chromosome 7q21.1. Genomics 13: 912-914, 1992.
[0032742]23330.Schmidt, C.; Bladt, F.; Goedecke, S.; Brinkmann, V.; Zschiesche, W.; Sharpe, M.; Gherardi, E.; Birchmeier, C.: Scatter factor/hepatocyte growth factor is essential for liver development. Nature 373: 699-702, 1995.
[0032743]23331.Uehara, Y.; Minowa, O.; Mori, C.; Shiota, K.; Kuno, J.; Noda, T.; Kitamura, N.: Placental defect and embryonic lethality in mice lacking hepatocyte growth factor/scatter factor. Nature 373: 702-705, 1995.
[0032744]23332.Weidner, K. M.; Arakaki, N.; Hartmann, G.; Vandekerckhove, J.; Weingart, S.; Rieder, H.; Fonatsch, C.; Tsubouchi, H.; Hishida, T.; Daikuhara, Y.; Birchmeier, W.: Evidence for the identity of human scatter factor and human hepatocyte growth factor. Proc. Nat. Acad. Sci. 88: 7001-7005, 1991.
[0032745]23333.Zarnegar, R.; Petersen, B.; DeFrances, M. C.; Michalopoulos, G. : Localization of hepatocyte growth factor (HGF) gene on human chromosome 7. Genomics 12: 147-150, 1992.
[0032746]23334.Gusella, J. F.; Tanzi, R.; Anderson, M. A.; Ottina, K.; Wallace, M.; Conneally, P. M.: Linkage analysis of Huntington's disease using RFLPs. (Abstract) Cytogenet. Cell Genet. 37: 484-485, 1984.
[0032747]23335.Gusella, J. F.; Tanzi, R. E.; Anderson, M. A.; Hobbs, W.; Gibbons, K.; Raschtchian, R.; Gilliam, T. C.; Wallace, M. R.; Wexler, N. S.; Conneally, P. M.: DNA markers for nervous system diseases. Science 225: 1320-1326, 1984.
[0032748]23336.Gusella, J. F.; Wexler, N. S.; Conneally, P. M.; Naylor, S. L.; Anderson, M. A.; Tanzi, R. E.; Watkins, P. C.; Ottina, K.; Wallace, M. R.; Sakaguchi, A. Y.; Young, A. B.; Shoulson, I.; Bonilla, E.; Martin, J. B.: A polymorphic DNA marker genetically linked to Huntington's disease. Nature 306: 234-238, 1983.
[0032749]23337.Gutekunst, C.-A.; Levey, A. I.; Heilman, C. J.; Whaley, W. L.; Yi, H.; Nash, N. R.; Rees, H. D.; Madden, J. J.; Hersch, S. M.: Identification and localization of huntingtin in brain and human lymphoblastoid cell lines with anti-fusion protein antibodies. Proc. Nat. Acad. Sci. 92: 8710-8714, 1995. 100. Haines, J.; Tanzi, R.; Wexler, N.; Harper, P.; Folstein, S.; Cassiman, J.; Meyers, R.; Young, A.; Hayden, M.; Falek, A.; Tolosa, E.; Crespi, S.; Campanella, G.; Holmgren, G.; Anvret, M.; Kanazawa, I.; Gusella, J.; Conneally, M.: No evidence of linkage heterogeneity between Huntington disease (HD) and G8 (D4S10). (Abstract) Am. J. Hum. Genet. 39: A156, 1986. 101. Hansson, O.; Petersen, A.; Leist, M.; Nicotera, P.; Castilho, R. F.; Brundin, P.: Transgenic mice expressing a Huntington's disease mutation are resistant to quinolinic acid-induced striatal excitotoxicity. Proc. Nat. Acad. Sci. 96: 8727-8732, 1999. 102. Harding, A. E.: Genetic aspects of autosomal dominant late onset cerebellar ataxia. J. Med. Genet. 18: 436-441, 1981. 103. Harper, P. S.: The epidemiology of Huntington's disease. Hum. Genet. 89: 365-376, 1992. 104. Harper, P. S.: Localization of the gene for Huntington's chorea. Trends Neurosci. 7: 1-2, 1984. 105. Harper, P. S.; Lim, C.; Craufurd, D.: Ten years of presymptomatic testing for Huntington's disease: the experience of the UK Huntington's Disease Prediction Consortium. J. Med. Genet. 37: 567-571, 2000. 106. Harper, P. S.; Sarfarazi, M.: Genetic prediction and family structure in Huntington's chorea. Brit. Med. J. 290: 1929-1931, 1985. 107. Harper, P. S.; Tyler, A.; Walker, D. A.; Newcombe, R. G.; Davies, K.: Huntington's chorea: the basis for long-term prevention. Lancet II: 346-349, 1979. 108. Harper, P. S.; Youngman, S.; Anderson, M. A.; Sarfarazi, M.; Quarrell, O.; Tanzi, R.; Shaw, D.; Wallace, P.; Conneally, P. M.; Gusella, J. F.: Genetic linkage between Huntington's disease and the DNA polymorphism G8 in South Wales families. J. Med. Genet. 22: 447-450, 1985. 109. Hayden, M. R.: Huntington's Chorea. Berlin and New York: Springer-Verlag (pub.) 1981. 110. Hayden, M. R.; Beighton, P.: Genetic aspects of Huntington's chorea: results of a national survey. Am. J. Med. Genet. 11: 135-141, 1982. 111. Hayden, M. R.; Hewitt, J.; Wasmuth, J. J.; Kastelein, J. J.; Langlois, S.; Conneally, M.; Haines, J.; Smith, B.; Hilbert, C.; Allard, D.: A polymorphic DNA marker that represents a conserved expressed sequence in the region of the Huntington disease gene. Am. J. Hum. Genet. 42: 125-131, 1988. 112. Hayden, M. R.; Martin, W. R. W.; Stoessl, A. J.; Clark, C.; Hollenberg, S.; Adam, M. J.; Ammann, W.; Harrop, R.; Rogers, J.; Ruth, T.; Sayre, C.; Pate, B. D.: Positron emission tomography in the early diagnosis of Huntington's disease. Neurology 36: 888-894, 1986. 113. Hayes, C. V.: Genetic testing for Huntington's disease--a family issue. (Editorial) New Eng. J. Med. 327: 1449-1451, 1992. 114. Heiser, V.; Scherzinger, E.; Boeddrich, A.; Nordhoff, E.; Lurz, R.; Schugardt, N.; Lehrach, H.; Wanker, E. E.: Inhibition of huntingtin fibrillogenesis by specific antibodies and small molecules: implications for Huntington's disease therapy. Proc. Nat. Acad. Sci. 97: 6739-6744, 2000. 115. Hilditch-Maguire, P.; Trettel, F.; Passani, L. A.; Auerbach, A.; Persichetti, F.; MacDonald, M. E.: Huntingtin: an iron-regulated protein essential for normal nuclear and perinuclear organelles. Hum. Molec. Genet. 9: 2789-2797, 2000. 116. Hodge, S. E.; Spence, M. A.; Crandall, B. F.; Sparkes, R. S.; Sparkes, M. C.; Crist, M.; Tideman, S.: Huntington disease: linkage analysis with age-of-onset corrections. Am. J. Med. Genet. 5: 247-254, 1980. 117. Hodgson, J. G.; Agopyan, N.; Gutekunst, C.-A.; Leavitt, B. R.; LePiane, F.; Singaraja, R.; Smith, D. J.; Bissada, N.; McCutcheon, K.; Nasir, J.; Jamot, L.; Li, X.-J.; Stevens, M. E.; Rosemond, E.; Roder, J. C.; Phillips, A. G.; Rubin, E. M.; Hersch, S. M.; Hayden, M. R.: A YAC mouse model for Huntington's disease with full-length mutant huntingtin, cytoplasmic toxicity, and selective striatal neurodegeneration. Neuron 23: 181-192, 1999. 118. Hodgson, J. G.; Smith, D. J.; McCutcheon, K.; Koide, H. B.; Nishiyama, K.; Dinulos, M. B.; Stevens, M. E.; Bissada, N.; Nasir, J.; Kanazawa, I.; Disteche, C. M.; Rubin, E. M.; Hayden, M. R.: Human huntingtin derived from YAC transgenes compensates for loss of murine huntingtin by rescue of the embryonic lethal phenotype. Hum. Molec. Genet. 5: 1875-1885, 1996. 119. Holmgren, G.; Winnberg Almqvist, E.; Anvret, M.; Conneally, M.; Hobbs, W.; Mattsson, B.; Wahlstrom, J.; Winblad, B.; Gusella, J. F. : Linkage of G8 (D4S10) in two Swedish families with Huntington's disease. Clin. Genet. 32: 289-294, 1987. 120. Hoogeveen, A. T.; Willemsen, R.; Meyer, N.; de Rooij, K. E.; Roos, R. A. C.; van Ommen, G.-J. B.; Galjaard, H.: Characterization and localization of the Huntington disease gene product. Hum. Molec. Genet. 2: 2069-2073, 1993. 121. Horton, T. M.; Graham, B. H.; Corral-Debrinski, M.; Shoffner, J. M.; Kaufman, A. E.; Beal, M. F.; Wallace, D. C.: Marked increase in mitochondrial DNA deletion levels in the cerebral cortex of Huntington's disease patients. Neurology 45: 1879-1883, 1995. 122. Huntington's Disease Collaborative Research Group: A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72: 971-983, 1993. 123. Huntington, G.: On chorea. Med. Surg. Reporter 26: 317-321, 1872. 124. Ikeda, H.; Yamaguchi, M.; Sugai, S.; Aze, Y.; Narumiya, S.; Kakizuka, A.: Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo. Nature Genet. 13: 196-202, 1996. 125. Ikonen, E.; Ignatius, J.; Norio, R.; Palo, J.; Peltonen, L.: Huntington disease in Finland: a molecular and genealogical study. Hum. Genet. 89: 275-280, 1992. 126. Illarioshkin, S. N.; Igarashi, S.; Onodera, O.; Markova, E. D.; Nikolskaya, N. N.; Tanaka, H.; Chabrashwili, T. Z.; Insarova, N. G.; Endo, K.; Ivanova-Smolenskaya, I. A.; Tsuji, S.: Trinucleotide repeat length and rate of progression of Huntington's disease. Ann. Neurol. 36: 630-635, 1994. 127. Jana, N. R.; Zemskov, E. A.; Wang, G.; Nukina, N.: Altered proteasomal function due to the expression of polyglutamine-expanded truncated Nterminal huntingtin induces apoptosis by caspase activation through mitochondrial cytochrome c release. Hum. Molec. Genet. 10: 1049-1059, 2001. 128. Kahlem, P.; Green, H.; Djian, P.: Transglutaminase action imitates Huntington's disease: selective polymerization of huntingtin containing expanded polyglutamine. Molec. Cell 1: 595-601, 1998. 129. Kanazawa, I.; Kondo, I.; Ikeda, J.-E.; Ikeda, T.; Shizu, Y.; Yoshida, M.; Narabayashi, H.; Kuroda, S.; Tsunoda, H.; Mizuta, E.; Okuno, Y.; Sugawara, K.; Murata, M.; Takahashi, M.; Gusella, J. F. : Studies on DNA markers (D4S10 and D4S43/S127) genetically linked to Huntington's disease in Japanese families. Hum. Genet. 85: 257-260, 1990. 130. Karpuj, M. V.; Becher, M. W.; Springer, J. E.; Chabas, D.; Youssef, S.; Pedotti, R.; Mitchell, D.; Steinman, L.: Prolonged survival and decreased abnormal movements in transgenic model of Huntington disease, with administration of the transglutaminase inhibitor cystamine. Nature Med. 8: 143-149, 2002. Note: Erratum: Nature Med. 8: 303 only, 2002. 131. Kazantsev, A.; Walker, H. A.; Slepko, N.; Bear, J. E.; Preisinger, E.; Steffan, J. S.; Zhu, Y.-Z.; Gertler, F. B.; Housman, D. E.; Marsh, J. L.; Thompson, L. M.: A bivalent Huntingtin binding peptide suppresses polyglutamine aggregation and pathogenesis in Drosophila. Nature Genet. 30: 367-376, 2002. 132. Kazemi-Esfarjani, P.; Benzer, S.: Genetic suppression of polyglutamine toxicity in Drosophila. Science 287: 1837-1840, 2000. 133. Keene, C. D.; Rodrigues, C. M. P.; Eich, T.; Chhabra, M. S.; Steer, C. J.; Low, W. C.: Tauroursodeoxycholic acid, a bile acid, is neuroprotective in a transgenic animal model of Huntington's disease. Proc. Nat. Acad. Sci. 99: 10671-10676, 2002. 134. Keene, C. D.; Rodrigues, C. M. P.; Eich, T.; Linehan-Stieers, C.; Abt, A.; Kren, B. T.; Steer, C. J.; Low, W. C.: A bile acid protects against motor and cognitive deficits and reduces striatal degeneration in the 3-nitroproprionic acid model of Huntington's disease. Exp. Neurol. 171: 351-360, 2001. 135. Kehoe, P.; Krawczak, M.; Harper, P. S.; Owen, M. J.; Jones, A. L.: Age of onset in Huntington disease: sex specific influence of apolipoprotein E genotype and normal CAG repeat length. J. Med. Genet. 36: 108-111, 1999. 136. Kennedy, L.; Shelbourne, P. F.: Dramatic mutation instability in HD mouse striatum: does polyglutamine load contribute to cell-specific vulnerability in Huntington's disease? Hum. Molec. Genet. 9: 2539-2544, 2000. 137. Kerbeshian, J.; Burd, L.; Leech, C.; Rorabaugh, A.: Huntington disease and childhood-onset Tourette syndrome. Am. J. Med. Genet. 39: 1-3, 1991. 138. Khoshnan, A.; Ko, J.; Patterson, P. H.: Effects of intracellular expression of anti-huntingtin antibodies of various specificities on mutant huntingtin aggregation and toxicity. Proc. Nat. Acad. Sci. 99: 1002-1007, 2002. 139. Klawans, H. L., Jr.; Paulson, G. W.; Ringel, S. P.; Barbeau, A.: L-dopa in the detection of presymptomatic Huntington's chorea. New Eng. J. Med. 286: 1332-1334, 1972. 140. Ko, J.; Ou, S.; Patterson, P. H.: New anti-huntingtin monoclonal antibodies: implications for huntingtin conformation and its binding proteins. Brain Res. Bull. 56: 319-329, 2001. 141. Kovtun, I. V.; McMurray, C. T.: Trinucleotide expansion in haploid germ cells by gap repair. Nature Genet. 27: 407-411, 2001. 142. Kovtun, I. V.; Therneau, T. M.; McMurray, C. T.: Gender of the embryo contributes to CAG instability in transgenic mice containing a Huntington's disease gene. Hum. Molec. Genet. 9: 2767-2775, 2000. 143. Kremer, B.; Goldberg, P.; Andrew, S. E.; Theilmann, J.; Telenius, H.; Zeisler, J.; Squitieri, F.; Lin, B.; Bassett, A.; Almqvist, E.; Bird, T. D.; Hayden, M. R.: A worldwide study of the Huntington's disease mutation: the sensitivity and specificity of measuring CAG repeats. New Eng. J. Med. 330: 1401-1406, 1994. 144. Laccone, F.; Christian, W.: A recurrent expansion of a maternal allele with 36 CAG repeats causes Huntington disease in two sisters. Am. J. Hum. Genet. 66: 1145-1148, 2000. 145. Landegent, J. E.; Jansen in de Wal, N.; Fisser-Groen, Y. M.; Bakker, E.; van der Ploeg, M.; Pearson, P. L.: Fine mapping of the Huntington disease linked D4S10 locus by non-radioactive in situ hybridization. Hum. Genet. 73: 354-357, 1986. 146. Lanska, D. J.; Lavine, L.; Lanska, M. J.; Schoenberg, B. S.: Huntington's disease mortality in the United States. Neurology 38: 769-772, 1988. 147. Lazzarini, A.; McCormack, M. K.; Lepore, F.: Maternal transmission of juvenile Huntington's disease in U.S. black families. (Abstract) Am. J. Hum. Genet. 36: 62S, 1984. 148. Leavitt, B. R.; Guttman, J. A.; Hodgson, J. G.; Kimel, G. H.; Singaraja, R.; Vogl, A. W.; Hayden, M. R.: Wild-type huntingtin reduces the cellular toxicity of mutant huntingtin in vivo. Am. J. Hum. Genet. 68: 313-324, 2001. 149. Leeflang, E. P.; Tavare, S.; Marjoram, P.; Neal, C. O. S.; Srinidhi, J.; MacDonald, M. E.; de Young, M.; Wexler, N. S.; Gusella, J. F.; Arnheim, N.: Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic mutation mechanism. Hum. Molec. Genet. 8: 173-183, 1999. 150. Leeflang, E. P.; Zhang, L.; Tavare, S.; Hubert, R.; Srinidhi, J.; MacDonald, M. E.; Myers, R. H.; de Young, M.; Wexler, N. S.; Gusella, J. F.; Arnheim, N.: Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum. Hum. Molec. Genet. 4: 1519-1526, 1995. 151. Leung, C. M.; Chan, Y. W.; Chang, C. M.; Yu, Y. L.; Chen, C. N.: Huntington's disease in Chinese: a hypothesis of its origin. J. Neurol. Neurosurg. Psychiat. 55: 681-684, 1992. 152. Li, H.; Li, S.-H.; Johnston, H.; Shelbourne, P. F.; Li, X.-J. : Amino-terminal fragments of mutant huntingtin show selective accumulation in striatal neurons and synaptic toxicity. Nature Genet. 25: 385-389, 2000. 153. Li, S.-H.; Lam, S.; Cheng, A. L.; Li, X.-J.: Intranuclear huntingtin increases the expression of caspase-1 and induces apoptosis. Hum. Molec. Genet. 9: 2859-2867, 2000. 154. Li, X.-J.; Li, S.-H.; Sharp, A. H.; Nucifora, F. C., Jr.; Schilling, G.; Lanahan, A.; Worley, P.; Snyder, S. H.; Ross, C. A.: A huntingtin-associated protein enriched in brain and implications for pathology. Nature 378: 398-402, 1995. 155. Lin, B.; Nasir, J.; Kalchman, M. A.; McDonald, H.; Zeisler, J.; Goldberg, Y. P.; Hayden, M. R.: Structural analysis of the 5-prime region of mouse and human Huntington disease genes reveals conservation of putative promoter region and di- and trinucleotide polymorphisms. Genomics 25: 707-715, 1995. 156. Lin, C.-H.; Tallaksen-Greene, S.; Chien, W.-M.; Cearley, J. A.; Jackson, W. S.; Crouse, A. B.; Ren, S.; Li, X.-J.; Albin, R. L.; Detloff, P. J.: Neurological abnormalities in a knock-in mouse model of Huntington's disease. Hum. Molec. Genet. 10: 137-144, 2001. 157. Lindblad, A. N.: To test or not to test: an ethical conflict with presymptomatic testing of individuals at 25% risk for Huntington's disorder. Clin. Genet. 60: 442-446, 2001. 158. Lovestone, S.; Hodgson, S.; Sham, P.; Differ, A.-M.; Levy, R. : Familial psychiatric presentation of Huntington's disease. J. Med. Genet. 33: 128-131, 1996. 159. Lunkes, A.; Lindenberg, K. S.; Ben-Haiem, L.; Weber, C.; Devys, D.; Landwehrmeyer, G. B.; Mandel, J.-L.; Trottier, Y.: Proteases acting on mutant huntingtin generate cleaved products that differentially build up cytoplasmic and nuclear inclusions. Molec. Cell 10: 259-269, 2002. 160. Lunkes, A.; Mandel, J.-L.: A cellular model that recapitulates major pathogenic steps of Huntington's disease. Hum. Molec. Genet. 7: 1355-1361, 1998. 161. Luthi-Carter, R.; Strand, A.; Peters, N. L.; Solano, S. M.; Hollingsworth, Z. R.; Menon, A. S.; Frey, A. S.; Spektor, B. S.; Penney, E. B.; Schilling, G.; Ross, C. A.; Borchelt, D. R.; Tapscott, S. J.; Young, A. B.; Cha, J.-H. J.; Olson, J. M.: Decreased expression of striatal signaling genes in a mouse model of Huntington's disease. Hum. Molec. Genet. 9: 1259-1271, 2000. 162. Lyon, R. L.: Huntington's chorea in the Moray Firth area. Brit. Med. J. 1: 1301-1306, 1962. 163. MacDonald, M. E.; Barnes, G.; Srinidhi, J.; Duyao, M. P.; Ambrose, C. M.; Myers, R. H.; Gray, J.; Conneally, P. M.; Young, A.; Penney, J.; Shoulson, I.; Hollingsworth, Z.; Koroshetz, W.; Bird, E.; Vonsattel, J. P.; Bonilla, E.; Moscowitz, C.; Penchaszadeh, G.; Brzustowicz, L.; Alvir, J.; Bickham Conde, J.; Cha, J.-H.; Dure, L.; Gomez, F.; Ramos-Arroyo, M.; Sanchez-Ramos, J.; Snodgrass, S. R.; de Young, M.; Wexler, N. S.; MacFarlane, H.; Anderson, M. A.; Jenkins, B.; Gusella, J. F.: Gametic but not somatic instability of CAG repeat length in Huntington's disease. J. Med. Genet. 30: 982-986, 1993. 164. MacDonald, M. E.; Cheng, S. V.; Zimmer, M.; Haines, J. L.; Poustka, A.; Allitto, B.; Smith, B.; Whaley, W. L.; Romano, D. M.; Jagadeesh, J.; Myers, R. H.; Lehrach, H.; Wasmuth, J. J.; Frischauf, A.-M.; Gusella, J. F.: Clustering of multiallele DNA markers near the Huntington's disease gene. J. Clin. Invest. 84: 1013-1016, 1989. 165. MacDonald, M. E.; Duyao, M.; Calzonetti, T.; Auerbach, A.; Ryan, A.; Barnes, G.; White, J. K.; Auerbach, W.; Vonsattel, J.-P.; Gusella, J. F.; Joyner, A. L.: Targeted inactivation of the mouse Huntington's disease gene homolog Hdh. Cold Spring Harbor Symp. Quant. Biol. 61: 627-638, 1996. 166. MacDonald, M. E.; Haines, J. L.; Zimmer, M.; Cheng, S. V.; Youngman, S.; Whaley, W. L.; Wexler, N.; Bucan, M.; Allitto, B. A.; Smith, B.; Leavitt, J.; Poustka, A.; Harper, P.; Lehrach, H.; Wasmuth, J. J.; Frischauf, A.-M.; Gusella, J. F.: Recombination events suggest potential sites for the Huntington's disease gene. Neuron 3: 183-190, 1989. 167. MacDonald, M. E.; Novelletto, A.; Lin, C.; Tagle, D.; Barnes, G.; Bates, G.; Taylor, S.; Allitto, B.; Altherr, M.; Myers, R.; Lehrach, H.; Collins, F. S.; Wasmuth, J. J.; Frontali, M.; Gusella, J. F.: The Huntington's disease candidate region exhibits many different haplotypes. Nature Genet. 1: 99-103, 1992. 168. MacDonald, M. E.; Vonsattel, J. P.; Shrinidhi, J.; Couropmitree, N. N.; Cupples, L. A.; Bird, E. D.; Gusella, J. F.; Myers, R. H.: Evidence for the GluR6 gene associated with younger onset age of Huntington's disease. Neurology 53: 1330-1332, 1999. 169. Magenis, E.; Gusella, J.; Weliky, K.; Haight, G.; Sheehy, B. : Huntington disease-linked (HD) restriction fragment polymorphism localized to band p16 of chromosome 4 by in situ hybridization. (Abstract) Cytogenet. Cell Genet. 40: 685, 1985. 170. Magenis, R. E.; Gusella, J.; Weliky, K.; Olson, S.; Haight, G.; Toth-Fejel, S.; Sheehy, R.: Huntington disease-linked restriction fragment length polymorphism localized within band p16.1 of chromosome 4 by in situ hybridization. Am. J. Hum. Genet. 39: 383-391, 1986. 171. Maltsberger, J. T.: Even unto the twelfth generation--Huntington's chorea. J. Hist. Med. Allied Sci. 16: 1-17, 1961. 172. Mangiarini, L.; Sathasivam, K.; Mahal, A.; Mott, R.; Seller, M.; Bates, G. P.: Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation. Nature Genet. 15: 197-200, 1997. 173. Mangiarini, L.; Sathasivam, K.; Seller, M.; Cozens, B.; Harper, A.; Hetherington, C.; Lawton, M.; Trottier, Y.; Lehrach, H.; Davies, S. W.; Bates, G. P.: Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice. Cell 87: 493-506, 1996. 174. Martin, J. B.; Gusella, J. F.: Huntington's disease: pathogenesis and management. New Eng. J. Med. 315: 1267-1276, 1986. 175. Marx, J. L.: A parent's sex may affect gene expression. Science 239: 352-353, 1988. 176. Mastromauro, C. A.; Meissen, G. J.; Cupples, L. A.; Kiely, D. K.; Berkman, B.; Myers, R. H.: Estimation of fertility and fitness in Huntington disease in New England. Am. J. Med. Genet. 33: 248-254, 1989. 177. Masuda, N.; Goto, J.; Murayama, N.; Watanabe, M.; Kondo, I.; Kanazawa, I.: Analysis of triplet repeats in the huntingtin gene in Japanese families affected with Huntington's disease. J. Med. Genet. 32: 701-705, 1995. 178. Mazziotta, J. C.; Phelps, M. E.; Pahl, J. J.; Huang, S.-C.; Baxter, L. R.; Riege, W. H.; Hoffman, J. M.; Kuhl, D. E.; Lanto, A. B.; Wapenski, J. A.; Markham, C. H.: Reduced cerebral glucose metabolism in asymptomatic subjects at risk for Huntington's disease. New Eng. J. Med. 316: 357-362, 1987. 179. McKeown, C.; Read, A. P.; Dodge, A.; Stecko, O.; Mercer, A.; Harris, R.: Wolf-Hirschhorn locus is distal to D4S10 on short arm of chromosome 4. J. Med. Genet. 24: 410-412, 1987. 180. McKusick, V. A.: Personal Communication. Baltimore, Md. 1977. 181. McLaughlin, B. A.; Spencer, C.; Eberwine, J.: CAG trinucleotide RNA repeats interact with RNA-binding proteins. Am. J. Hum. Genet. 59: 561-569, 1996. 182. Meissen, G. J.; Myers, R. H.; Mastromauro, C. A.; Koroshetz, W. J.; Klinger, K. W.; Farrer, L. A.; Watkins, P. A.; Gusella, J. F.; Bird, E. D.; Martin, J. B.: Predictive testing for Huntington's disease with use of a linked DNA marker. New Eng. J. Med. 318: 535-542, 1988. 183. Metzler, M.; Helgason, C. D.; Dragatsis, I.; Zhang, T.; Gan, L.; Pineault, N.; Zeitlin, S. O.; Humphries, R. K.; Hayden, M. R. : Huntingtin is required for normal hematopoiesis. Hum. Molec. Genet. 9: 387-394, 2000. 184. Millan, F. A.; Curits, A.; Mennie, M.; Holloway, S.; Boxer, M.; Faed, M. J. W.; Crawford, J. W.; Liston, W. A.; Brock, D. J. H.: Prenatal exclusion testing for Huntington's disease: a problem of too much information. J. Med. Genet. 26: 83-85, 1989. 185. Mochizuki, H.; Kamakura, K.; Kumada, M.; Goto, J.; Kanazawa, I.; Motoyoshi, K.: A patient with Huntington's disease presenting with laryngeal chorea. Europ. Neurol. 41: 119-120, 1999. 186. Morris, M. J.; Tyler, A.; Lazarou, L.; Meredith, L.; Harper, P. S.: Problems in genetic prediction for Huntington's disease. Lancet II: 601-603, 1989. 187. Morrison, P. J.; Johnston, W. P.; Nevin, N. C.: The epidemiology of Huntington's disease in Northern Ireland. J. Med. Genet. 32: 524-530, 1995. 188. Mouchiroud, D.; D'Onofrio, G.; Aissani, B.; Macaya, G.; Gautier, C.; Bernardi, G.: The distribution of genes in the human genome. Gene 100: 181-187, 1991. 189. Muchowski, P. J.; Ning, K.; D'Souza-Schorey, C.; Fields, S.: Requirement of an intact microtubule cytoskeleton for aggregation and inclusion body formation by a mutant huntingtin fragment. Proc. Nat. Acad. Sci. 99: 727-732, 2002. 190. Myers, R. H.; Cupples, L. A.; Schoenfeld, M.; D'Agostino, R. B.; Terrin, N. C.; Goldmakher, N.; Wolf, P. A.: Maternal factors in onset of Huntington disease. Am. J. Hum. Genet. 37: 511-523, 1985. 191. Myers, R. H.; Goldman, D.; Bird, E. D.; Sax, D. S.; Merril, C. R.; Schoenfeld, M.; Wolf, P. A.: Maternal transmission in Huntington's disease. Lancet I: 208-210, 1983. 192. Myers, R. H.; Leavitt, J.; Farrer, L. A.; Jagadeesh, J.; McFarlane, H.; Mastromauro, C. A.; Mark, R. J.; Gusella, J. F.: Homozygote for Huntington disease. Am. J. Hum. Genet. 45: 615-618, 1989. 193. Myers, R. H.; Madden, J. J.; Teague, J. L.; Falek, A.: Factors related to onset age of Huntington disease. Am. J. Hum. Genet. 34: 481-488, 1982. 194. Myrianthopoulos, N. C.: Huntington's chorea. J. Med. Genet. 3: 298-314, 1966. 195. Narain, Y.; Wyttenbach, A.; Rankin, J.; Furlong, R. A.; Rubinsztein, D. C.: A molecular investigation of true dominance in Huntington's disease. J. Med. Genet. 36: 739-746, 1999. 196. Nasir, J.; Floresco, S. B.; O'Kusky, J. R.; Diewert, V. M.; Richman, J. M.; Zeisler, J.; Borowski, A.; Marth, J. D.; Phillips, A. G.; Hayden, M. R.: Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes. Cell 81: 811-823, 1995. 197. Nasir, J.; Lin, B.; Bucan, M.; Koizumi, T.; Nadeau, J. H.; Hayden, M. R.: The murine homologues of the Huntington disease gene (Hdh) and the alpha-adducin gene (Add1) map to mouse chromosome 5 within a region of conserved synteny with human chromosome 4p16.3. Genomics 22: 198-201, 1994. 198. Navarrete, C.; Martinez, I.; Salamanca, F.: Paternal line of transmission in chorea of Huntington with very early onset. Genet. Counsel. 5: 175-178, 1994. 199. Ona, V. O.; Li, M.; Vonsattel, J. P. G.; Andrews, L. J.; Khan, S. Q.; Chung, W. M.; Frey, A. S.; Menon, A. S.; Li, X.-J.; Stieg, P. E.; Yuan, J.; Penney, J. B.; Young, A. B.; Cha, J.-H. J.; Friedlander, R. M.: Inhibition of caspase-1 slows disease progression in a mouse model of Huntington's disease. Nature 399: 263-267, 1999. 200. Ordway, J. M.; Tallaksen-Greene, S.; Gutekunst, C.-A.; Bernstein, E. M.; Cearley, J. A.; Wiener, H. W.; Dure, L. S., IV; Lindsey, R.; Hersch, S. M.; Jope, R. S.; Albin, R. L.; Detloff, P. J.: Ectopically expressed CAG repeats cause intranuclear inclusions and a progressive late onset neurological phenotype in the mouse. Cell 91: 753-763, 1997. 201. Orr, H. T.; Zoghbi, H. Y.: Reversing neurodegeneration: a promise unfolds. Cell 101: 1-4, 2000. 202. Osler, W.: Remarks on the varieties of chronic chorea, and a report upon two families of the hereditary form, with one autopsy. J. Nerv. Ment. Dis. 18: 97-111, 1893. 203. Palo, J.; Somer, H.; Ikonen, E.; Karila, L.; Peltonen, L.: Low prevalence of Huntington's disease in Finland. Lancet I: 805-806, 1987. 204. Panov, A. V.; Gutekunst, C.-A.; Leavitt, B. R.; Hayden, M. R.; Burke, J. R.; Strittmatter, W. J.; Greenamyre, J. T.: Early mitochondrial calcium defects in Huntington's disease are a direct effect of polyglutamines. Nature Neurosci. 5: 731-736, 2002. 205. Parrish, J. E.; Nelson, D. L.: Methods for finding genes: a major rate-limiting step in positional cloning. Genet. Anal. Tech. Appl. 10: 29-41, 1993. 206. Paulson, H. L.; Bonini, N. M.; Roth, K. A.: Polyglutamine disease and neuronal cell death. Proc. Nat. Acad. Sci. 97: 12957-12958, 2000. 207. Peel, A. L.; Rao, R. V.; Cottrell, B. A.; Hayden, M. R.; Ellerby, L. M.; Bredesen, D. E.: Double-stranded RNA-dependent protein kinase, PKR, binds preferentially to Huntington's disease (HD) transcripts and is activated in HD tissue. Hum. Molec. Genet. 10: 1531-1538, 2001. 208. Pericak-Vance, M. A.; Conneally, P. M.; Merritt, A. D.; Roos, R.; Norton, J. A., Jr.; Vance, J. M.: Genetic linkage studies in Huntington disease. Cytogenet. Cell Genet. 22: 640-645, 1978. 209. Perry, T. L.; Hansen, S.; Kloster, M.: Huntington's chorea: deficiency of gamma-aminobutyric acid in brain. New Eng. J. Med. 288: 337-342, 1973. 210. Petersen, A.; Larsen, K. E.; Behr, G. G.; Romero, N.; Przedborski, S.; Brundin, P.; Sulzer, D.: Expanded CAG repeats in exon 1 of the Huntington's disease gene stimulate dopamine-mediated striatal neuron autophagy and degeneration. Hum. Molec. Genet. 10: 1243-1254, 2001. 211. Peyser, C. E.; Folstein, M.; Chase, G. A.; Starkstein, S.; Brandt, J.; Cockrell, J. R.; Bylsma, F.; Coyle, J. T.; McHugh, P. R.; Folstein, S. E.: Trial of d-alphatocopherol in Huntington's disease. Am. J. Psychiat. 152: 1771-1775, 1995. 212. Portera-Cailliau, C.; Hedreen, J. C.; Price, D. L.; Koliatsos, V. E.: Evidence for apoptotic cell death in Huntington disease and excitotoxic animal models. J. Neurosci. 15: 3775-3787, 1995. 213. Pridmore, S. A.: The large Huntington's disease family of Tasmania. Med. J. Aust. 153: 593-595, 1990. 214. Quarrell, O. W. J.; Meredith, A. L.; Tyler, A.; Youngman, S.; Upadhyaya, M.; Harper, P. S.: Exclusion testing for Huntington's disease in pregnancy with a closely linked DNA marker. Lancet I: 1281-1283, 1987. 215. Quarrell, O. W. J.; Tyler, A.; Cole, G.; Harper, P. S.: The problem of isolated cases of Huntington's disease in South Wales 1974-1984. Clin. Genet. 30: 433-439, 1986. 216. Quarrell, O. W. J.; Tyler, A.; Jones, M. P.; Nordin, M.; Harper, P. S.: Population studies of Huntington's disease in Wales. Clin. Genet. 33: 189-195, 1988. 217. Ranen, N. G.; Stine, O. C.; Abbott, M. H.; Sherr, M.; Codori, A.-M.; Franz, M. L.; Chao, N. I.; Chung, A. S.; Pleasant, N.; Callahan, C.; Kasch, L. M.; Ghaffari, M.; Chase, G. A.; Kazazian, H. H.; Brandt, J.; Folstein, S. E.; Ross, C. A.: Anticipation and instability of IT-15 (CAG)n repeats in parent-offspring pairs with Huntington disease. Am. J. Hum. Genet. 57: 593-602, 1995. 218. Read, A. P.: Huntington's disease: testing the test. Nature Genet. 4: 329-330, 1993. 219. Reddy, P. H.; Williams, M.; Charles, V.; Garrett, L.; Pike-Buchanan, L.; Whetsell, W. O., Jr.; Miller, G.; Tagle, D. A.: Behavioral abnormalities and selective neuronal loss in HD transgenic mice expressing mutated fulllength HD cDNA. Nature Genet. 20: 198-202, 1998. 220. Reed, T. E.; Chandler, J. H.: Huntington's chorea in Michigan. I. Demography and genetics. Am. J. Hum. Genet. 10: 203-225, 1958. 221. Reed, T. E.; Neel, J. V.: Huntington's chorea in Michigan. II. Selection and mutation. Am. J. Hum. Genet. 11: 107-136, 1959. 222. Reik, W.: Genomic imprinting: a possible mechanism for the parental origin effect in Huntington's chorea. J. Med. Genet. 25: 805-808, 1988. 223. Reik, W.: Genomic imprinting and genetic disorders in man. Trends Genet. 5: 331-336, 1989. 224. Reik, W.; Collick, A.; Norris, M. L.; Barton, S. C.; Surani, M. A.: Genomic imprinting determines methylation of parental alleles in transgenic mice. Nature 328: 248-251, 1987. 225. Reiner, A.; Albin, R. L.; Anderson, K. D.; D'Amato, C. J.; Penney, J. B.; Young, A. B.: Differential loss of striatal projection neurons in Huntington disease. Proc. Nat. Acad. Sci. 85: 5733-5737, 1988. 226. Richfield, E. K.; Herkenham, M.: Selective vulnerability in Huntington's disease: preferential loss of cannabinoid receptors in lateral globus pallidus. Ann. Neurol. 36: 577-584, 1994. 227. Ridley, R. M.; Frith, C. D.; Crow, T. J.; Conneally, P. M.: Anticipation in Huntington's disease is inherited through the male line but may originate in the female. J. Med. Genet. 25: 589-595, 1988. 228. Ridley, R. M.; Frith, C. D.; Farrer, L. A.; Conneally, P. M. : Patterns of inheritance of the symptoms of Huntington's disease suggestive of an effect of genomic imprinting. J. Med. Genet. 28: 224-231, 1991. 229. Robbins, C.; Theilmann, J.; Youngman, S.; Haines, J.; Altherr, M. J.; Harper, P. S.; Payne, C.; Junker, A.; Wasmuth, J.; Hayden, M. R.: Evidence from family studies that the gene causing Huntington disease is telomeric to D4S95 and D4S90. Am. J. Hum. Genet. 44: 422-425, 1989. 230. Rosenberg, N. K.; Sorensen, S. A.; Christensen, A.-L.: Neuropsychological characteristics of Huntington's disease carriers: a double blind study. J. Med. Genet. 32: 600-604, 1995. 231. Rosenblatt, A.; Brinkman, R. R.; Liang, K. Y.; Almqvist, E. W.; Margolis, R. L.; Huang, C. Y.; Sherr, M.; Franz, M. L.; Abbott, M. H.; Hayden, M. R.; Ross, C. A.: Familial influence on age of onset among siblings with Huntington disease. Am. J. Med. Genet. 105: 399-403, 2001. 232. Roses, A. D.: From genes to mechanisms to therapies: lessons to be learned from neurological disorders. Nature Med. 2: 267-269, 1996. 233. Rubinsztein, D. C.; Amos, W.; Leggo, J.; Goodburn, S.; Ramesar, R. S.; Old, J.; Bontrop, R.; McMahon, R.; Barton, D. E.; Ferguson-Smith, M. A.: Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence. Nature Genet. 7: 525-530, 1994. 234. Rubinsztein, D. C.; Leggo, J.; Coles, R.; et al.: Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats. Am. J. Hum. Genet. 59: 16-22, 1996. 235. Sabl, J. F.; Laird, C. D.: Epigene conversion: a proposal with implications for gene mapping in humans. Am. J. Hum. Genet. 50: 1171-1177, 1992. 236. Saccone, S.; De Sario, A.; Della Valle, G.; Bernardi, G.: The highest gene concentrations in the human genome are in telomeric bands of metaphase chromosomes. Proc. Nat. Acad. Sci. 89: 4913-4917, 1992. 237. Sapienza, C.; Peterson, A. C.; Rossant, J.; Balling, R.: Degree of methylation of transgenes is independent of gamete of origin. Nature 328: 251-254, 1987. 238. Sapp, E.; Ge, P.; Aizawa, H.; Bird, E.; Penney, J.; Young, A. B.; Vonsattel, J.-P.; DiFiglia, M.: Evidence for a preferential loss of enkephalin immunoreactivity in the external globus pallidus in low grade Huntington's disease using high resolution image analysis. Neuroscience 64: 397-404, 1995. 239. Sathasivam, K.; Hobbs, C.; Turmaine, M.; Mangiarini, L.; Mahal, A.; Bertaux, F.; Wanker, E. E.; Doherty, P.; Davies, S. W.; Bates, G. P.: Formation of polyglutamine inclusions in non-CNS tissue. Hum. Molec. Genet. 8: 813-822, 1999. 240. Sathasivam, K.; Woodman, B.; Mahal, A.; Bertaux, F.; Wanker, E. E.; Shima, D. T.; Bates, G. P.: Centrosome disorganization in fibroblast cultures derived from R6/2 Huntington's disease (HD) transgenic mice and HD patients. Hum. Molec. Genet. 10: 2425-2435, 2001. 241. Saudou, F.; Finkbeiner, S.; Devys, D.; Greenberg, M. E.: Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions. Cell 95: 55-66, 1998. 242. Sax, D. S.; Bird, E. D.; Gusella, J. F.; Myers, R. H.: Phenotypic variation in 2 Huntington's disease families with linkage to chromosome 4. Neurology 39: 1332-1336, 1989. 243. Scherzinger, E.; Lurz, R.; Turmaine, M.; Mangiarini, L.; Hollenbach, B.; Hasenbank, R.; Bates, G. P.; Davies, S. W.; Lehrach, H.; Wanker, E. E.: Huntingtin-encoded polyglutamine expansions form amyloid-like protein aggregates in vitro and in vivo. Cell 90: 549-558, 1997. 244. Scherzinger, E.; Sittler, A.; Schweiger, K.; Heiser, V.; Lurz, R.; Hasenbank, R.; Bates, G. P.; Lehrach, H.; Wanker, E. E.: Self-assembly of polyglutamine-containing huntingtin fragments into amyloid-like fibrils: implications for Huntington's disease pathology. Proc. Nat. Acad. Sci. 96: 4604-4609, 1999. 245. Schilling, G.; Becher, M. W.; Sharp, A. H.; Jinnah, H. A.; Duan, K.; Kotzuk, J. A.; Slunt, H. H.; Ratovitski, T.; Cooper, J. K.; Jenkins, N. A.; Copeland, N. G.; Price, D. L.; Ross, C. A.; Borchelt, D. R. : Intranuclear inclusions and neuritic aggregates in transgenic mice expressing a mutant N-terminal fragment of huntingtin. Hum. Molec. Genet. 8: 397-407, 1999. 246. Schwarcz, R.; Okuno, E.; White, R. J.; Bird, E. D.; Whetsell, W. O., Jr.: 3-Hydroxyanthranilate oxygenase activity is increased in the brains of Huntington disease victims. Proc. Nat. Acad. Sci. 85: 4079-4081, 1988. 247. Scrimgeour, E. M.: Possible introduction of Huntington's chorea into Pacific Islands by New England whalemen. Am. J. Med. Genet. 15: 607-613, 1983. 248. Scrimgeour, E. M.; Samman, Y.; Brock, D. J. H.: Huntington's disease in a Sudanese family from Khartoum. Hum. Genet. 96: 624-625, 1995. 249. Shelbourne, P. F.; Killeen, N.; Hevner, R. F.; Johnston, H. M.; Tecott, L.; Lewandoski, M.; Ennis, M.; Ramirez, L.; Li, Z.; Iannicola, C.; Littman, D. R.; Myers, R. M.: A Huntington's disease CAG expansion at the murine Hdh locus is unstable and associated with behavioural abnormalities in mice. Hum. Molec. Genet. 8: 763-774, 1999. 250. Shiwach, R.: Psychopathology in Huntington's disease patients. Acta Psychiat. Scand. 90: 241-246, 1994. 251. Shiwach, R. S.; Norbury, C. G.: A controlled psychiatric study of individuals at risk for Huntington's disease. Brit. J. Psychiat. 165: 500-505, 1994. 252. Silber, E.; Kromberg, J.; Temlett, J. A.; Krause, A.; Saffer, D.: Huntington's disease confirmed by genetic testing in five African families. Mov. Disord. 13: 726-730, 1998. 253. Simpson, S. A.; Johnston, A. W.: The prevalence and patterns of care of Huntington's chorea in Grampian. Brit. J. Psychiat. 155: 799-804, 1989. 254. Sisodia, S. S.: Nuclear inclusions in glutamine repeat disorders: are they pernicious, coincidental, or beneficial? Cell 95: 1-4, 1998. 255. Sittler, A.; Lurz, R.; Lueder, G.; Priller, J.; Hayer-Hartl, M. K.; Hartl, F. U.; Lehrach, H.; Wanker, E. E.: Geldanamycin activates a heat shock response and inhibits huntingtin aggregation in a cell culture model of Huntington's disease. Hum. Molec. Genet. 10: 1307-1315, 2001. 256. Skraastad, M. I.; Van de Vosse, E.; Belfroid, R.; Hold, K.; Vegter-van der Vlis, M.; Sandkuijl, L. A.; Bakker, E.; van Ommen, G. J. B.: Significant linkage disequilibrium between the Huntington disease gene and the loci D4S10 and D4S95 in the Dutch population. Am. J. Hum. Genet. 51: 730-735, 1992. 257. Snell, R. G.; MacMillan, J. C.; Cheadle, J. P.; Fenton, I.; Lazarou, L. P.; Davies, P.; MacDonald, M. E.; Gusella, J. F.; Harper, P. S.; Shaw, D. J.: Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nature Genet. 4: 393-397, 1993. 258. Snell, R. G.; Youngman, S.; Lehrach, H.; Sarfarazi, M.; Harper, P. S.; Shaw, D. J.: A new probe (2R3) in the region of Huntington's disease. (Abstract) Cytogenet. Cell Genet. 51: 1083, 1989. 259. Stebbins, C. E.; Russo, A. A.; Schneider, C.; Rosen, N.; Hartl, F. U.; Pavletich, N. P.: Crystal structure of an Hsp90-geldanamycin complex: targeting of a protein chaperone by an antitumor agent. Cell 89: 239-250, 1997. 260. Steffan, J. S.; Bodal, L.; Pallos, J.; Poelman, M.; McCampbell, A.; Apostol, B. L.; Kazantsev, A.; Schmidt, E.; Zhu, Y.-Z.; Greenwald, M.; Kurokawa, R.; Housman, D. E.; Jackson, G. R.; Marsh, J. L.; Thompson, L. M.: Histone deacetylase inhibitors arrest polyglutamine-dependent neurodegeneration in Drosophila. Nature 413: 739-743, 2001. 261. Steffan, J. S.; Kazantsev, A.; Spasic-Boskovic, O.; Greenwald, M.; Zhu, Y.-Z.; Gohler, H.; Wanker, E. E.; Bates, G. P.; Housman, D. E.; Thompson, L. M.: The Huntington's disease protein interacts with p53 and CREB-binding protein and represses transcription. Proc. Nat. Acad. Sci. 97: 6763-6768, 2000. 262. Stine, O. C.; Smith, K. D.: The estimation of selection coefficients in Afrikaners: Huntington disease, porphyria variegata, and lipoid proteinosis. Am. J. Hum. Genet. 46: 452-458, 1990. 263. Strobel, S. A.; Doucette-Stamm, L. A.; Riba, L.; Housman, D. E.; Dervan, P. B.: Sitespecific cleavage of human chromosome 4 mediated by triple-helix formation. Science 254: 1639-1642, 1991. 264. Tolmie, J. L.; Davidson, H. R.; May, H. M.; McIntosh, K.; Paterson, J. S.; Smith, B.: The prenatal exclusion test for Huntington's disease: experience in the West of Scotland, 1986-1993. J. Med. Genet. 32: 97-101, 1995. 265. Tranebjaerg, L.; Petersen, A.; Hove, K.; Rehder, H.; Mikkelsen, M.: Clinical and cytogenetic studies in a large (4;8) translocation family with pre- and postnatal Wolf syndrome. Ann. Genet. 27: 224-229, 1984. 266. Trettel, F.; Rigamonti, D.; Hilditch-Maguire, P.; Wheeler, V. C.; Sharp, A. H.; Persichetti, F.; Cattaneo, E.; MacDonald, M. E. : Dominant phenotypes produced by the HD mutation in STHdh(Q111) striatal cells. Hum. Molec. Genet. 9: 2799-2809, 2000. 267. Trottier, Y.; Biancalana, V.; Mandel, J.-L.: Instability of CAG repeats in Huntington's disease: relation to parental transmission and age of onset. J. Med. Genet. 31: 377-382, 1994. 268. Trottier, Y.; Devys, D.; Imbert, G.; Saudou, F.; An, I.; Lutz, Y.; Weber, C.; Agid, Y.; Hirsch, E. C.; Mandel, J.-L.: Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form. Nature Genet. 10: 104-110, 1995. 269. Tyler, A.; Quarrell, O. W. J.; Lazarou, L. P.; Meredith, A. L.; Harper, P. S.: Exclusion testing in pregnancy for Huntington's disease. J. Med. Genet. 27: 488-495, 1990. 270. van Dellen, A.; Blakemore, C.; Deacon, R.; York, D.; Hannan, A. J.: Delaying the onset of Huntington's in mice: this unremitting disease develops later in animals stimulated by their environment. (Letter) Nature 404: 721-722, 2000. 271. van der Weiden, R. M. F.: George Huntington and George Sumner Huntington: a tale of two doctors. (Letter) Hist. Phil. Life Sci. 11: 297-304, 1989. 272. van Dijk, J. G.; van der Velde, E. A.; Roos, R. A. C.; Bruyn, G. W.: Juvenile Huntington disease. Hum. Genet. 73: 235-239, 1986. 273. Vessie, P. R.: Original article on the transmission of Huntington's chorea for 300 years--the Bures family group. J. Nerv. Ment. Dis. 76: 553-573, 1932. 274. Volkers, W. S.; Went, L. N.; Vegter-van der Vlis, M.; Harper, P. S.; Caro, A.: Genetic linkage studies in Huntington's chorea. Ann. Hum. Genet. 44: 75-79, 1980. 275. Walker, D. A.; Harper, P. S.; Wells, C. E. C.; Tyler, A.; Davies, K.; Newcombe, R. G.: Huntington's chorea in South Wales: a genetic and epidemiological study. Clin. Genet. 19: 213-221, 1981. 276. Wallace, D. C.; Hall, A. C.: Evidence of genetic heterogeneity in Huntington's chorea. J. Neurol. Neurosurg. Psychiat. 35: 789-800, 1972. 277. Wang, H. S.; Greenberg, C. R.; Hewitt, J.; Kalousek, D.; Hayden, M. R.: Subregional assignment of the linked marker G8 (D4S10) for Huntington disease to chromosome 4p16.1-16.3. Am. J. Hum. Genet. 39: 392-396, 1986. 278. Wang, H. S.; Greenberg, C. R.; Kalousek, D.; Gusella, J.; Horsman, D.; Hayden, M. R.: Subregional assignment of the linked marker D4S10 (G8) for Huntington disease by in situ hybridization. (Abstract) Cytogenet. Cell Genet. 40: 772, 1985. 279. Warner, J.; Barron, L.; St Clair, D.; Brock, D.: Reliability of clinical diagnosis of Huntington's disease. (Letter) J. Neurol. Neurosurg. Psychiat. 63: 1277, 1994. 280. Wasmuth, J. J.; Hewitt, J.; Smith, B.; Allard, D.; Haines, J. L.; Skarecky, D.; Partlow, E.; Hayden, M. R.: A highly polymorphic locus very tightly linked to the Huntington's disease gene. Nature 332: 734-736, 1988. 281. Went, L. N.; Vegter-van der Vlis, M.; Bruyn, G. W.: Parental transmission in Huntington's disease. Lancet I: 1100-1102, 1984. 282. Wexler, N. S.: The Tiresias complex: Huntington's disease as a paradigm of testing for late-onset disorders. FASEB J. 6: 2820-2825, 1992. 283. Wexler, N. S.; Bonilla, E.; Young, A. B.; Shoulson, I.; Gomez, F.; Starosta, S.; Travers, H.; Villalobas, M.; de Quiroz, I.; Erbe, R.; Penney, J. B.; Uzzell, R. S.; Burnham, F. A.; Daugherty, L.; Jones, B.; Mapstone, C.; Rivas, M.; Messer, E.; Wexler, A.; Snodgrass, R.; Rosenzweig, G.; Esteves, J.; Marsol, N.; Bailey, S.; Brinley, F. J.; Goldstein, E.; Greene, A. E.; Kidd, J. R.; Kidd, K. K.; Gusella, J. F.; Conneally, P. M.; Moreno, H.: Huntington's disease in Venezuela and gene linkage. (Abstract) Cytogenet. Cell Genet. 37: 605, 1984. 284. Wexler, N. S.; Young, A.; Tanzi, R.; Starosta, S.; Gomez, F.; Travers, H.; Snodgrass, S. R.; Moreno, H.; Shoulson, I.; Penney, J.; Conneally, P. M.; Gusella, J.: Huntington's disease homozygotes identified. (Abstract) Am. J. Hum. Genet. 37: A82, 1985. 285. Wexler, N. S.; Young, A. B.; Tanzi, R. E.; Travers, H.; Starosta-Rubinstein, S.; Penney, J. B.; Snodgrass, S. R.; Shoulson, I.; Gomez, F.; Ramos Arroyo, M. A.; Penchaszadeh, G. K.; Moreno, H.; Gibbons, K.; Faryniarz, A.; Hobbs, W.; Anderson, M. A.; Bonilla, E.; Conneally, P. M.; Gusella, J. F.: Homozygotes for Huntington's disease. Nature 326: 194-197, 1987. 286. Wheeler, V. C.; Gutekunst, C.-A.; Vrbanac, V.; Lebel, L.-A.; Schilling, G.; Hersch, S.; Friedlander, R. M.; Gusella, J. F.; Vonsattel, J.-P.; Borchelt, D. R.; MacDonald, M. E.: Early phenotypes that presage late-onset neurodegenerative disease allow testing of modifiers in Hdh CAG knock-in mice. Hum. Molec. Genet. 11: 633-640, 2002. 287. Wheeler, V. C.; White, J. K.; Gutekunst, C.-A.; Vrbanac, V.; Weaver, M.; Li, X. J.; Li, S.-H.; Yi, H.; Vonsattel, J.-P.; Gusella, J. F.; Hersch, S.; Auerbach, W.; Joyner, A. L.; MacDonald, M. E.: Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in Hdh-Q92 and Hdh-Q111 knock-in mice. Hum. Molec. Genet. 9: 503-513, 2000. 288. Wiggins, S.; Whyte, P.; Huggins, M.; Adam, S.; Theilmann, J.; Bloch, M.; Sheps, S. B.; Schechter, M. T.; Hayden, M. R.: The psychological consequences of predictive testing for Huntington's disease. New Eng. J. Med. 327: 1401-1405, 1992. 289. Wolff, G.; Deuschl, G.; Wienker, T. F.; Hummel, K.; Bender, K.; Lucking, C. H.; Schumacher, M.; Hammer, J.; Oepen, G.: New mutation to Huntington's disease. J. Med. Genet. 26: 18-27, 1989. 290. Wright, H. H.; Still, C. N.; Abramson, R. K.: Huntington's disease in black kindreds in South Carolina. Arch. Neurol. 38: 412-414, 1981. 291. Xiang, F.; Almqvist, E. W.; Huq, M.; Lundin, A.; Hayden, M. R.; Edstrom, L.; Anvret, M.; Zhang, Z.: A Huntington diseaselike neurodegenerative disorder maps to chromosome 20p. Am. J. Hum. Genet. 63: 1431-1438, 1998. 292. Yamamoto, A.; Lucas, J. J.; Hen, R.: Reversal of neuropathology and motor dysfunction in a conditional model of Huntington's disease. Cell 101: 57-66, 2000. 293. Youngman, S.; Sarfarazi, M.; Quarrell, O. W. J.; Conneally, P. M.; Gibbons, K.; Harper, P. S.; Shaw, D. J.; Tanzi, R. E.; Wallace, M. R.; Gusella, J. F.: Studies of a DNA marker (G8) genetically linked to Huntington disease in British families. Hum. Genet. 73: 333-339, 1986. 294. Zabel, B. U.; Naylor, S. L.; Sakaguchi, A. Y.; Gusella, J. F. : Regional localization of a DNA polymorphism (D4S10) linked to Huntington's disease at 4p16-p15. (Abstract) Cytogenet. Cell Genet. 40: 787, 1985. 295. Zabel, B. U.; Naylor, S. L.; Sakaguchi, A. Y.; Gusella, J. F. : Mapping of the DNA locus D4S10 and the linked Huntington's disease gene to 4p16-p15. Cytogenet. Cell Genet. 42: 187-190, 1986. 296. Zeitlin, S.; Liu, J.-P.; Chapman, D. L.; Papaioannou, V. E.; Efstratiadis, A.: Increased apoptosis and early embryonic lethality in mice nullizygous for the Huntington's disease gene homologue. Nature Genet. 11: 155-163, 1995. 297. Zlotogora, J.: Dominance and homozygosity. Am. J. Med. Genet. 68: 412-416, 1997. 298. Zuccato, C.; Ciammola, A.; Rigamonti, D.; Leavitt, B. R.; Goffredo, D.; Conti, L.; MacDonald, M. E.; Friedlander, R. M.; Silani, V.; Hayden, M. R.; Timmusk, T.; Sipione, S.; Cattaneo, E.: Loss of huntingtin-mediated BDNF gene transcription in Huntington's disease. Science 293: 493-498, 2001. 299. Zuhlke, C.; Riess, O.; Bockel, B.; Lange, H.; Thies, U.: Mitotic stability and meiotic variability of the (CAG)n repeat in the Huntington disease gene. Hum. Molec. Genet. 2: 2063-2067, 1993. 300. Zuo, J.; Robbins, C.; Taillon-Miller, P.; Cox, D. R.; Myers, R. M.: Cloning of the Huntington disease region in yeast artificial chromosomes. Hum. Molec. Genet. 1: 149-159, 1992.
[0032750]23338.Calandro, L. M.; Baer, D. M.; Sensabaugh, G. F.: Characterization of a recombinant that locates the hereditary hemochromatosis gene telomeric to HLA-F. Hum. Genet. 96: 339-342, 1995.
[0032751]23339.Campbell, K.; Flavin, N.; Ivens, A.; Robert, B.; Buckingham, M.; Williamson, R.: The human homeobox gene HOX7 maps to 4p16.1 and is deleted in Wolf-Hirschhorn syndrome patients. (Abstract) Am. J. Hum. Genet. 45 (suppl.): A179 only, 1989.
[0032752]23340.Gehring, W. J.; Qian, Y. Q.; Billeter, M.; Furukubo-Tokunaga, K.; Schier, A. F.; Resendez-Perez, D.; Affolter, M.; Otting, G.; Wuthrich, K.: Homeodomain-DNA recognition. Cell 78: 211-223, 1994.
[0032753]23341.Greenberg, F.; Elder, F. F. B.; Ledbetter, D. H.; Altherr, M.; Wasmuth, J. J.: Molecular confirmation of Wolf-Hirschhorn syndrome with apparently normal chromosomes. (Abstract) Am. J. Hum. Genet. 45 (suppl.): A76 only, 1989.
[0032754]23342.Hewitt, J. E.; Clark, L. N.; Ivens, A.; Williamson, R.: Structure and sequence of the human homeobox gene HOX7. Genomics 11: 670-678, 1991.
[0032755]23343.Hirschhorn, K.; Cooper, H. L.; Firschein, I. L.: Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion. Humangenetik 1: 479-482, 1965.
[0032756]23344.Hu, G.; Vastardis, H.; Bendall, A. J.; Wang, Z.; Logan, M.; Zhang, H.; Nelson, C.; Stein, S.; Greenfield, N.; Seidman, C. E.; Seidman, J. G.; Abate-Shen, C.: Haploinsufficiency of MSX1: a mechanism for selective tooth agenesis. Molec. Cell. Biol. 18: 6044-6051, 1998.
[0032757]23345.Hwang, S.-J.; Beaty, T. H.; McIntosh, I.; Hefferon, T.; Panny, S. R.: Association between homeobox-containing gene MSX1 and the occurrence of limb deficiency. Am. J. Med. Genet. 75: 419-423, 1998.
[0032758]23346.Ivens, A.; Flavin, N.; Williamson, R.; Dixon, M.; Bates, G.; Buckingham, M.; Robert, B.: The human homeobox gene HOX7 maps to chromosome 4p16.1 and may be implicated in Wolf-Hirschhorn syndrome. Hum. Genet. 84: 473-476, 1990.
[0032759]23347.Jumlongras, D.; Bei, M.; Stimson, J. M.; Wang, W.-F.; DePalma, S. R.; Seidman, C. E.; Felbor, U.; Maas, R.; Seidman, J. G.; Olsen, B. R.: A nonsense mutation in MSX1 causes Witkop syndrome. Am. J. Hum. Genet. 69: 67-74, 2001.
[0032760]23348.Odelberg, S. J.; Kollhoff, A.; Keating, M. T.: Dedifferentiation of mammalian myotubes induced by msx1. Cell 103: 1099-1109, 2000.
[0032761]23349.Robert, B.; Sassoon, D.; Jacq, B.; Gehring, W.; Buckingham, M. : Hox-7, a mouse homeobox gene with a novel pattern of expression during embryogenesis. EMBO J. 8: 91-100, 1989.
[0032762]23350.Satokata, I.; Maas, R.: Msx1 deficient mice exhibited cleft palate and abnormalities of craniofacial and tooth development. Nature Genet. 6: 348-355, 1994.
[0032763]23351.Scarel, R. M.; Trevilatto, P. C.; Di Hipolito, O., Jr.; Camargo, L. E. A.; Line, S. R. P.: Absence of mutations in the homeodomain of the MSX1 gene in patients with hypodontia. Am. J. Med. Genet. 92: 346-349, 2000.
[0032764]23352.Stimson, J. M.; Sivers, J. E.; Hlava, G. L.: Features of oligodontia in three generations. J. Clin. Pediat. Dent. 21: 269-275, 1997.
[0032765]23353.van den Boogaard, M.-J. H.; Dorland, M.; Beemer, F. A.; Ploos van Amstel, H. K.: MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans. (Letter) Nature Genet. 24: 342-343, 2000. Note: Erratum: Nature Genet. 25: 125 only, 2000.
[0032766]23354.Vastardis, H.; Karimbux, N.; Guthua, S. W.; Seidman, J. G.; Seidman, C. E.: A human MSX1 homeodomain missense mutation causes evidence tooth agenesis. Nature Genet. 13: 417-421, 1996.
[0032767]23355.Wolf, U.; Reinwein, H.; Porsch, R.; Schroter, R.; Baitsch, H. : Defizienz an den kurzen Armen eines Chromosoms Nr. 4. Humangenetik 1: 397-413, 1965.
[0032768]23356.Del Campo, M.; Jones, M. C.; Veraksa, A. N.; Curry, C. J.; Jones, K. L.; Mascarello, J. T.; Ali-Kahn-Catts, Z.; Drumheller, T.; McGinnis, W.: Monodactylous limbs and abnormal genitalia are associated with hemizygosity for the human 2q31 region that includes the HOXD cluster. Am. J. Hum. Genet. 65: 104-110, 1999.
[0032769]23357.Zakany, J.; Kmita, M.; Alarcon, P.; de la Pompa, J.-L.; Duboule, D.: Localized and transient transcription of Hox genes suggests a link between patterning and the segmentation clock. Cell 106: 207-217, 2001.
[0032770]23358.Lafuse, W. P.; Zwilling, B. S.: Localization of the inhibin beta-B gene on mouse chromosome 1. Mammalian Genome 4: 399-400, 1993.
[0032771]23359.Salmenkivi, K.; Arola, J.; Voutilainen, R.; Ilvesmaki, V.; Haglund, C.; Kahri, A. I.; Heikkila, P.; Liu, J.: Inhibin/activin beta-B-subunit expression in pheochromocytomas favors benign diagnosis. J. Clin. Endocr. Metab. 86: 2231-2235, 2001.
[0032772]23360.Schrewe, H.; Gendron-Maguire, M.; Harbison, M. L.; Gridley, T. : Mice homozygous for a null mutation of activin beta B are viable and fertile. Mech. Dev. 47: 43-51, 1994.
[0032773]23361.Kotanides, H.; Reich, N. C.: Interleukin-4-induced STAT6 recognizes and activates a target site in the promoter of the interleukin-4 receptor gene. J. Biol. Chem. 271: 25555-25561, 1996.
[0032774]23362.Caggana, M.; Walker, K.; Reilly, A. A.; Conroy, J. M.; Duva, S.; Walsh, A. C.: Population-based studies reveal differences in the allelic frequencies of two functionally significant human interleukin-4 receptor polymorphisms in several ethnic groups. Genet. Med. 1: 267-271, 1999.
[0032775]23363.Deichmann, K. A.; Heinzmann, A.; Forster, J.; Dischinger, S.; Mehl, C.; Brueggenolte, E.; Hildebrandt, F.; Moseler, M.; Kuehr, J.: Linkage and allelic association of atopy and markers flanking the IL4-receptor gene. Clin. Exp. Allergy 28: 151-155, 1998.
[0032776]23364.MacLeod, J. N.; Lee, A. K.; Liebhaber, S. A.; Cooke, N. E.: Developmental control and alternative splicing of the placentally expressed transcripts from the human growth hormone gene cluster. J. Biol. Chem. 267: 14219-14226, 1992.
[0032777]23365.Wurzel, J. M.; Parks, J. S.; Herd, J. E.; Nielsen, P. V.: A gene deletion is responsible for absence of human chorionic somatomammotropin. DNA 1: 251-257, 1982.
[0032778]23366.Gallin, J. I.: Personal Communication. Bethesda, Md. 10/12/1990.
[0032779]23367.McCombs, J. L.; Teng, C. T.; Pentecost, B. T.; Magnuson, V. L.; Moore, C. M.; McGill, J. R.: Chromosomal localization of human lactotransferrin gene (LTF) by in situ hybridization. Cytogenet. Cell Genet. 47: 16-17, 1988.
[0032780]23368.Moriuchi, M.; Moriuchi, H.: A milk protein lactoferrin enhances human T cell leukemia virus type I and suppresses HIV-1 infection. J. Immun. 166: 4231-4236, 2001.
[0032781]23369.Naylor, S. L.; Marshall, A.; Solomon, A.; McGill, J. R.; McCombs, J.; Magnuson, V. L.; Moore, C. M.; Lalley, P. A.; Pentecost, B. T.; Teng, C.: Lactoferrin maps to human chromosome 3(q21-q23) and mouse chromosome 9. (Abstract) Cytogenet. Cell Genet. 46: 669 only, 1987.
[0032782]23370.Powell, M. J.; Ogden, J. E.: Nucleotide sequence of human lactoferrin cDNA. Nucleic Acids Res. 18: 4013 only, 1990.
[0032783]23371.Qiu, J.; Hendrixson, D. R.; Baker, E. N.; Murphy, T. F.; St. Geme, J. W., III; Plaut, A. G.: Human milk lactoferrin inactivates two putative colonization factors expressed by Haemophilus influenzae. Proc. Nat. Acad. Sci. 95: 12641-12646, 1998.
[0032784]23372.Rado, T. A.; Wei, X.; Benz, E. J., Jr.: Isolation of lactoferrin cDNA from a human myeloid library and expression of mRNA during normal and leukemic myelopoiesis. Blood 70: 989-993, 1987.
[0032785]23373.Singh, P. K.; Parsek, M. R.; Greenberg, E. P.; Welsh, M. J.: A component of innate immunity prevents bacterial biofilm development. Nature 417: 552-555, 2002.
[0032786]23374.Teng, C. T.; Pentecost, B. T.; Marshall, A.; Solomon, A.; Bowman, B. H.; Lalley, P. A.; Naylor, S. L.: Assignment of the lactotransferrin gene to human chromosome 3 and to mouse chromosome 9. Somat. Cell Molec. Genet. 13: 689-693, 1987.
[0032787]23375.Yang, F.; Lum, J.; Baldwin, W. D.; Brune, J. L.; van Bragt, P.; Bowman, B. H.: Genetic analysis of human iron binding glycoproteins. (Abstract) Am. J. Hum. Genet. 35: 184A only, 1983.
[0032788]23376.Tanaka, A. R.; Ikeda, Y.; Abe-Dohmae, S.; Arakawa, R.; Sadanami, K.; Kidera, A.; Nakagawa, S.; Nagase, T.; Aoki, R.; Kioka, N.; Amachi, T.; Yokoyama, S.; Ueda, K.: Human ABCA1 contains a large amino terminal extracellular domain homologous to an epitope of Sjogren's syndrome. Biochem. Biophys. Res. Commun. 283: 1019-1025, 2001.
[0032789]23377.Aoki, N.; Suzuki, H.; Ito, K.; Ito, M.: A novel point mutation of the FALDH gene in a Japanese family with Sjogren-Larsson syndrome. J. Invest. Derm. 114: 1065-1066, 2000.
[0032790]23378.Blumel, J.; Watkins, M.; Eggers, G. W. N.: Spastic quadriplegia combined with congenital ichthyosiform erythroderma and oligophrenia. Am. J. Dis. Child. 96: 724-726, 1958.
[0032791]23379.Chang, C.; Yoshida, A.: Human fatty aldehyde dehydrogenase gene (ALDH10): organization and tissue-dependent expression. Genomics 40: 80-85, 1997.
[0032792]23380.De Laurenzi, V.; Rogers, G. R.; Hamrock, D. J.; Marekov, L. N.; Steinert, P. M.; Compton, J. G.; Markova, N.; Rizzo, W. B.: Sjogren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene. Nature Genet. 12: 52-57, 1996.
[0032793]23381.De Laurenzi, V.; Rogers, G. R.; Tarcsa, E.; Carney, G.; Marekov, L.; Bale, S. J.; Compton, J. G.; Markova, N.; Steinert, P. M.; Rizzo, W. B.: Sjogren-Larsson syndrome is caused by a common mutation in northern European and Swedish patients. J. Invest. Derm. 109: 79-83, 1997.
[0032794]23382.Gedde-Dahl, T., Jr.; Rajka, G.; Larsen, T. E.; Jellum, E.: Autosomal recessive ichthyosis in Norway: II. Sjogren-Larsson-like ichthyosis without CNS or eye involvement. Clin. Genet. 26: 242-244, 1984.
[0032795]23383.Gilbert, W. R., Jr.; Smith, J. L.; Nyhan, W. L.: The Sjogren-Larsson syndrome. Arch. Ophthal. 80: 308-316, 1968.
[0032796]23384.Goldsmith, L. A.; Baden, H. P.; Canty, T. G.: Sjogren-Larsson syndrome. Acta Derm. Venerol. 51: 374-378, 1971.
[0032797]23385.Gustavson, K. H.; Jagell, S.: Dermatoglyphic patterns in the Sjogren-Larsson syndrome. Clin. Genet. 17: 120-124, 1980.
[0032798]23386.Heijer, A.; Reed, W. B.: Sjogren-Larsson syndrome: congenital ichthyosis, spastic paralysis, and oligophrenia. Arch. Derm. 92: 545-552, 1965.
[0032799]23387.IJlst, L.; Oostheim, W.; van Werkhoven, M.; Willemsen, M. A. A. P.; Wanders, R. J. A.: Molecular basis of Sjogren-Larsson syndrome: frequency of the 1297-1298 del GA and 943C-T mutation in 29 patients. J. Inherit. Metab. Dis. 22: 319-321, 1999.
[0032800]23388.Jagell, S.; Gustavson, K.-H.; Holmgren, G.: Sjogren-Larsson syndrome in Sweden: a clinical, genetic and epidemiological study. Clin. Genet. 19: 233-256, 1981.
[0032801]23389.Jagell, S.; Linden, S.: Ichthyosis in the Sjogren-Larsson syndrome. Clin. Genet. 21: 243-252, 1982.
[0032802]23390.Jagell, S.; Polland, W.; Sandgren, O.: Specific changes in the fundus typical for the Sjogren-Larsson syndrome: an ophthalmological study of 35 patients. Acta Ophthal. 58: 321-330, 1980.
[0032803]23391.Shohat, M.; Bu, X.; Shohat, T.; Fischel-Ghodsian, N.; Magal, N.; Nakamura, Y.; Schwabe, A. D.; Schlezinger, M.; Danon, Y.; Rotter, J. I.: The gene for familial Mediterranean fever in both Armenians and non-Ashkenazi Jews is linked to the alpha-globin complex on 16p: evidence for locus homogeneity. Am. J. Hum. Genet. 51: 1349-1354, 1992.
[0032804]23392.Shohat, M.; Korenberg, J. R.; Schlesinger, M.; Shohat, T.; Petersen, G. M.; Schwabe, A.; Rotter, J. I.: The gene for serum amyloid P component (APCS) is not a genetic marker for amyloidosis in familial Mediterranean fever. (Abstract) Cytogenet. Cell Genet. 51: 1079, 1989.
[0032805]23393.Shohat, M.; Korenberg, J. R.; Schwabe, A. D.; Rotter, J. I.: Hypothesis: familial Mediterranean fever--a genetic disorder of the lipocortin family? Am. J. Med. Genet. 34: 163-167, 1989.
[0032806]23394.Shohat, M.; Korenberg, J. R.; Shohat, T.; Sack, G.; Schwabe, A.; Rotter, J. I.: Serum amyloid A (SAA) locus is not associated with familial Mediterranean fever (FMF) or FMF-amyloidosis. (Abstract) Cytogenet. Cell Genet. 51: 1079, 1989.
[0032807]23395.Shohat, M.; Livneh, A.; Zemer, D.; Pras, M.; Sohar, E.: Twin studies in familial Mediterranean fever. Am. J. Med. Genet. 44: 179-182, 1992.
[0032808]23396.Shohat, M.; Shohat, T.; Rotter, J. I.; Schlesinger, M.; Petersen, G. M.; Pribyl, T.; Sack, G.; Schwabe, A. D.; Korenberg, J. R.: Serum amyloid A and P protein genes in familial Mediterranean fever. Genomics 8: 83-89, 1990. 100. Shohat, T.; Shohat, M.; Petersen, G. M.; Sparkes, R. S.; Langfield, D.; Bickal, J.; Korenberg, J. R.; Schwabe, A. D.; Rotter, J. I.: Genetic marker family studies in familial Mediterranean fever (FMF) in Armenians. Clin. Genet. 38: 332-339, 1990. 101. Shohat, T.; Shohat, M.; Tyan, D. B.; Wang, S. J.; Sparkes, R. S.; Schwabe, A. D.; Rotter, J. I.: Familial Mediterranean fever--linkage studies with genetic markers on chromosome 6. Tissue Antigens 36: 103-107, 1990. 102. Siegal, S.: Benign paroxysmal peritonitis. Ann. Intern. Med. 23: 1-22, 1945. 103. Siegal, S.: Familial paroxysmal polyserositis: analysis of fifty cases. Am. J. Med. 36: 893-918, 1964. 104. Sohar, E.; Gafni, J.; Pras, M.; Heller, H.: Familial Mediterranean fever: a survey of 470 cases and review of literature. Am. J. Med. 43: 227-253, 1967. 105. Sokmen, C.: Comment. Trans. Assoc. Am. Phys. 72: 120-121, 1959. 106. Sood, R.; Blake, T.; Aksentijevich, I.; Wood, G.; Chen, X.; Gardner, D.; Shelton, D. A.; Mangelsdorf, M.; Orsborn, A.; Pras, E.; Balow, J. E. Jr.; Centola, M. and 16 others: Construction of a 1-Mb restriction-mapped cosmid contig containing the candidate region for the familial Mediterranean fever locus (MEFV) on chromosome 16p13.3. Genomics 42: 83-95, 1997. 107. Tamir, N.; Langevitz, P.; Zemer, D.; Pras, E.; Shinar, Y.; Padeh, S.; Zaks, N.; Pras, M.; Livneh, A.: Late-onset familial Mediterranean fever (FMF): a subset with distinct clinical, demographic, and molecular genetic characteristics. Am. J. Med. Genet. 87: 30-35, 1999. 108. Touitou, I.: The spectrum of familial Mediterranean fever (FMF) mutations. Europ. J. Hum. Genet. 9: 473-483, 2001. 109. Tutar, H. E.; Imamoglu, A.; Atalay, S.: Recurrent pericarditis in familial Mediterranean fever. (Letter) Acta Pediat. 88: 1045-1046, 1999. 110. Wolff, S. M.; Dinarello, C. A.; Dale, D. C.; Goldfinger, S. E.; Alling, D. W.: Colchicine therapy of familial Mediterranean fever. (Abstract) Clin. Res. 22: 567A, 1974. 111. Yazigi, A.; Abou-Charaf, L. C.: Colchicine for recurrent pericarditis in children. Acta Paediat. 87: 603-604, 1998. 112. Yilmaz, E.; Ozen, S.; Balci, B.; Duzova, A.; Topaloglu, R.; Besbas, N.; Saatci, U.; Bakkaloglu, A.; Ozguc, M.: Mutation frequency of familial Mediterranean fever and evidence for a high carrier rate in the Turkish population. Europ. J. Hum. Genet. 9: 553-555, 2001. 113. Yuval, Y.; Hemo-Zisser, M.; Zemer, D.; Sohar, E.; Pras, M.: Dominant inheritance in two families with familial Mediterranean fever (FMF). Am. J. Med. Genet. 57: 455-457, 1995. 114. Zemer, D.; Livneh, A.; Pras, M.; Sohar, E.: Familial Mediterranean fever in the colchicine era: the fate of one family. Am. J. Med. Genet. 45: 340-344, 1993. 115. Zemer, D.; Pras, M.; Sohar, E.; Modan, M.; Cabili, S.; Gafni, J.: Colchicine in the prevention and treatment of the amyloidosis of familial Mediterranean fever. New Eng. J. Med. 314: 1001-1005, 1986. 116. Zemer, D.; Revach, M.; Pras, M.; Modan, B.; Schor, S.; Sohar, E.; Gafni, J.: A controlled trial of colchicine in preventing attacks of familial Mediterranean fever. New Eng. J. Med. 291: 932-934, 1974.
[0032809]23397.Labay, V.; Raz, T.; Baron, D.; Mandel, H.; Williams, H.; Barrett, T.; Szargel, R.; McDonald, L.; Shalata, A.; Nosaka, K.; Gregory, S.; Cohen, N.: Mutations in SLC19A2 cause thiamineresponsive megaloblastic anaemia associated with diabetes mellitus and deafness. Nature Genet. 22: 300-304, 1999.
[0032810]23398.Millat, G.; Marcais, C.; Rafi, M. A.; Yamamoto, T.; Morris, J. A.; Pentchev, P. G.; Ohno, K.; Wenger, D. A.; Vanier, M. T.: Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of western European descent and correlates with a classic juvenile phenotype. Am. J. Hum. Genet. 65: 1321-1329, 1999.
[0032811]23399.Agostoni, C.; Massetto, N.; Biasucci, G.; Rottoli, A.; Bonvissuto, M.; Bruzzese, M.; Giovannini, M.; Riva, E.: Effects of long-chain polyunsaturated fatty acid supplementation on fatty acid status and visual function in treated children with hyperphenylalaninemia. J. Pediat. 137: 504-509, 2000.
[0032812]23400.Eisensmith, R. C.; Okano, Y.; Dasovich, M.; Wang, T.; Guttler, F.; Lou, H.; Guldberg, P.; Lichter-Konecki, U.; Konecki, D. S.; Svensson, E.; Hagenfeldt, L.; Rey, F.; Munnich, A.; Lyonnet, S.; Cockburn, F.; Connor, J. M.; Pembrey, M. E.; Smith, I.; Gitzelmann, R.; Steinmann, B.; Apold, J.; Eiken, H. G.; Giovannini, M.; Riva, E.; Longhi, R.; Romano, C.; Cerone, R.; Naughten, E. R.; Mullins, C.; Cahalane, S.; Ozalp, I.; Fekete, G.; Schuler, D.; Berencsi, G. Y.; Nasz, I.; Brdicka, R.; Kamaryt, J.; Pijackova, A.; Cabalska, B.; Boszkowa, K.; Schwartz, E.; Kalinin, V. N.; Jin, L.; Chakraborty, R.; Woo, S. L. C.: Multiple origins for phenylketonuria in Europe. Am. J. Hum. Genet. 51: 1355-1365, 1992.
[0032813]23401.Kirk, E. P. E.; Fletcher, J. M.; Sharp, P.; Carey, B.; Poulos, A.: X-linked adrenoleukodystrophy: the Australasian experience. Am. J. Med. Genet. 76: 420-423, 1998.
[0032814]23402.Kobayashi, T.; Noda, S.; Umezaki, H.; Goto, I.; Suzuki, S.; Kitaguchi, T.; Kuroiwa, Y.: Familial spinocerebellar degeneration as an expression of adrenoleukodystrophy. J. Neurol. Neurosurg. Psychiat. 49: 1438-1440, 1986.
[0032815]23403.Kobayashi, T.; Yamada, T.; Yasutake, T.; Shinnoh, N.; Goto, I.; Iwaki, T.: Adrenoleukodystrophy gene encodes an 80 kDa membrane protein. Biochem. Biophys. Res. Commun. 201: 1029-1034, 1994.
[0032816]23404.Kok, F.; Neumann, S.; Sarde, C.-O.; Zheng, S.; Wu, K.-H.; Wei, H.-M.; Bergin, J.; Watkins, P. A.; Gould, S.; Sack, G.; Moser, H.; Mandel, J.-L.; Smith, K. D.: Mutational analysis of patients with X-linked adrenoleukodystrophy. Hum. Mutat. 6: 104-115, 1995.
[0032817]23405.Kolodny, E. H.: The adrenoleukodystrophy-adrenomyeloneuropathy complex: is it treatable? (Editorial) Ann. Neurol. 21: 230-231, 1987.
[0032818]23406.Korenke, G. C.; Fuchs, S.; Krasemann, E.; et al.: Cerebral adrenoleukodystrophy (ALD) in only one of monozygous twins with an identical ALD genotype. Ann. Neurol. 40: 254-257, 1996.
[0032819]23407.Krasemann, E. W.; Meier, V.; Korenke, G. C.; Hunneman, D. H.; Hanefeld, F.: Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy. Hum. Genet. 97: 194-197, 1996.
[0032820]23408.Kruse, B.; Barker, P. B.; van Zijl, P. C. M.; Duyn, J. H.; Moonen, C. T. W.; Moser, H. W.: Multislice proton magnetic resonance spectroscopic imaging in X-linked adrenoleukodystrophy. Ann. Neurol. 36: 595-608, 1994.
[0032821]23409.Lachtermacher, M. B. R.; Seuanez, H. N.; Moser, A. B.; Moser, H. W.; Smith, K. D.: Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described. Hum. Mutat. 15: 348-353, 2000.
[0032822]23410.Laureti, S.; Casucci, G.; Santeusanio, F.; Angeletti, G.; Aubourg, P.; Brunetti, P.: Xlinked adrenoleukodystrophy is a frequent cause of idiopathic Addison's disease in young adult male patients. J. Clin. Endocr. Metab. 81: 470-474, 1996.
[0032823]23411.Lazo, O.; Contreras, M.; Hashmi, M.; Stanley, W.; Irazu, C.; Singh, I.: Peroxisomal lignoceroyl-CoA ligase deficiency in childhood adrenoleukodystrophy and adrenomyeloneuropathy. Proc. Nat. Acad. Sci. 85: 7647-7651, 1988.
[0032824]23412.Ligtenberg, M. J. L.; Kemp, S.; Sarde, C.-O.; van Geel, B. M.; Kleijer, W. J.; Barth, P. G.; Mandel, J.-L.; van Oost, B. A.; Bolhuis, P. A.: Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein. Am. J. Hum. Genet. 56: 44-50, 1995.
[0032825]23413.Luciani, G. B.; Pessotto, R.; Mazzucco, A.: Adrenoleukodystrophy presenting as postperfusion syndrome. (Letter) New Eng. J. Med. 336: 731-732, 1997.
[0032826]23414.Maestri, N. E.; Beaty, T. H.: Predictions of a 2-locus model for disease heterogeneity: application to adrenoleukodystrophy. Am. J. Med. Genet. 44: 576-582, 1992.
[0032827]23415.Malm, G.; Ringden, O.; Anvret, M.; von Dobeln, U.; Hagenfeldt, L.; Isberg, B.; Knuutila, S.; Nennesmo, I.; Winiarski, J.; Marcus, C.: Treatment of adrenoleukodystrophy with bone marrow transplantation. Acta Paediat. 86: 484-492, 1997.
[0032828]23416.Manz, H. J.; Schuelein, M.; McCullough, D. C.; Kishimoto, Y.; Eiben, R. M.: New phenotypic variant of adrenoleukodystrophy: pathologic, ultrastructural, and biochemical study in two brothers. J. Neurol. Sci. 45: 245-260, 1980.
[0032829]23417.Martin, J. J.; Dompas, B.; Ceuterick, C.; Jacobs, K.: Adrenomyeloneuropathy and adrenoleukodystrophy in two brothers. Europ. Neurol. 19: 281-287, 1980.
[0032830]23418.Menkes, J. H.; Corbo, L. M.: Adrenoleukodystrophy: accumulation of cholesterol esters with very long chain fatty acids. Neurology 27: 928-932, 1977.
[0032831]23419.Migeon, B. R.; Moser, H. W.; Moser, A. B.; Axelman, J.; Sillence, D.; Norum, R. A.: Adrenoleukodystrophy: evidence for X linkage inactivation, and selection favoring the mutant allele in heterozygous cells. Proc. Nat. Acad. Sci. 78: 5066-5070, 1981.
[0032832]23420.Millat, G.; Marcais, C.; Tomasetto, C.; Chikh, K.; Fensom, A. H.; Harzer, K.; Wenger, D. A.; Ohno, K.; Vanier, M. T.: Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop. Am. J. Hum. Genet. 68: 1373-1385, 2001.
[0032833]23421.Morris, J. A.; Zhang, D.; Coleman, K. G.; Nagle, J.; Pentchev, P. G.; Carstea, E. D.: The genomic organization and polymorphism analysis of the human Niemann-Pick C1 gene. Biochem. Biophys. Res. Commun. 261: 493-498, 1999.
[0032834]23422.Omura, K.; Suzuki, Y.; Norose, N.; Sato, M.; Maruyama, K.; Koeda, T.: Type C Niemann-Pick disease: clinical and biochemical studies on 6 cases. Brain Dev. 11: 57-61, 1989.
[0032835]23423.Palmer, M.; Green, W. R.; Maumenee, I. H.; Valle, D. L.; Singer, H. S.; Morton, S. J.; Moser, H. W.: Niemann-Pick disease--type C: ocular histopathologic and electron microscopic studies. Arch. Ophthal. 103: 817-822, 1985.
[0032836]23424.Patel, S. C.; Suresh, S.; Kumar, U.; Hu, C. Y.; Cooney, A.; Blanchette-Mackie, E. J.; Neufeld, E. B.; Patel, R. C.; Brady, R. O.; Patel, Y. C.; Pentchev, P. G.; Ong, W.-Y.: Localization of Niemann-Pick C1 protein in astrocytes: implications for neuronal degeneration in Niemann-Pick type C disease. Proc. Nat. Acad. Sci. 96: 1657-1662, 1999.
[0032837]23425.Pentchev, P. G.; Boothe, A. D.; Kruth, H. S.; Weintroub, H.; Stivers, J.; Brady, R. O.: A genetic storage disorder in BALB/C mice with a metabolic block in esterification of exogenous cholesterol. J. Biol. Chem. 259: 5784-5791, 1984.
[0032838]23426.Sun, X.-H.: Constitutive expression of the Id1 gene impairs mouse B cell development. Cell 79: 893-900, 1994.
[0032839]23427.Nowell, P. C.; Hungerford, D. A.: Chromosome studies on normal and leukemic human leukocytes. J. Nat. Cancer Inst. 25: 85-109, 1960.
[0032840]23428.Dowbenko, D. J.; Diep, A.; Taylor, B. A.; Lusis, A. J.; Lasky, L. A.: Characterization of the murine homing receptor gene reveals correspondence between protein domains and coding exons. Genomics 9: 270-277, 1991.
[0032841]23429.Aarskog, N. K.; Vedeler, C. A.: Real-time quantitative polymerase chain reaction: a new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liability to pressure palsies. Hum. Genet. 107: 494-498, 2000.
[0032842]23430.Chance, P. F.; Alderson, M. K.; Leppig, K. A.; Lensch, M. W.; Matsunami, N.; Smith, B.; Swanson, P. D.; Odelberg, S. J.; Disteche, C. M.; Bird, T. D.: DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 72: 143-151, 1993.
[0032843]23431.Lehmann, A. R.; Bootsma, D.; Clarkson, S. G.; Cleaver, J. E.; McAlpine, P. J.; Tanaka, K.; Thompson, L. H.; Wood, R. D.: Nomenclature of human DNA repair genes. Mutat. Res. 315: 41-42, 1994.
[0032844]23432.Abruzzo, L. V.; Jaffe, E. S.; Cotelingam, J. D.; Whang-Peng, J.; Del Duca, V., Jr.; Medeiros, L. J.: T-cell lymphoblastic lymphoma with eosinophilia associated with subsequent myeloid malignancy. Am. J. Surg. Path. 16: 236-245, 1992.
[0032845]23433.Chesi, M.; Nardini, E.; Brents, L. A.; Schrock, E.; Ried, T.; Kuehl, W. M.; Bergsagel, P. L.: Frequent translocation t(4;14)(p16.3;q32.3) in multiple myeloma is associated with increased expression and activating mutations of fibroblast growth factor receptor 3. Nature Genet. 16: 260-264, 1997.
[0032846]23434.Demiroglu, A.; Steer, E. J.; Heath, C.; Taylor, K.; Bentley, M.; Allen, S. L.; Koduru, P.; Brody, J. P.; Hawson, G.; Rodwell, R.; Doody, M.-L.; Carnicero, F.; Reiter, A.; Goldman, J. M.; Melo, J. V.; Cross, N. C. P.: The t(8;22) in chronic myeloid leukemia fuses BCR to FGFR1: transforming activity and specific inhibition of FGFR1 fusion proteins. Blood 98: 3778-3783, 2001.
[0032847]23435.Guasch, G.; Mack, G. J.; Popovici, C.; Dastugue, N.; Birnbaum, D.; Rattner, J. B.; Pebusque, M.-J.: FGFR1 is fused to the centrosome-associated protein CEP110 in the 8p12 stem cell myeloproliferative disorder with t(8;9)(p12;q33). Blood 95: 1788-1796, 2000.
[0032848]23436.Inhorn, R. C.; Aster, J. C.; Roach, S. A.; Slapak, C. A.; Soiffer, R.; Tantravahi, R.; Stone, R. M.: A syndrome of lymphoblastic lymphoma, eosinophilia, and myeloid hyperplasia/malignancy associated with t(8;13)(p11;q11): description of a distinctive clinicopathologic entity. Blood 85: 1881-1887, 1995.
[0032849]23437.Lee, P. L.; Johnson, D. E.; Cousens, L. S.; Fried, V. A.; Williams, L. T.: Purification and complementary DNA cloning of a receptor for basic fibroblast growth factor. Science 245: 57-60, 1989.
[0032850]23438.Mavrothalassitis, G.; Tzimagiorgis, G.; Mitsialis, A.; Zannis, V.; Plaitakis, A.; Papamatheakis, J.; Moschonas, N.: Isolation and characterization of cDNA clones encoding human liver glutamate dehydrogenase: evidence for a small gene family. Proc. Nat. Acad. Sci. 85: 3494-3498, 1988.
[0032851]23439.Michaelidis, T. M.; Tzimagiorgis, G.; Moschonas, N. K.; Papamatheakis, J.: The human glutamate dehydrogenase gene family: gene organization and structural characterization. Genomics 16: 150-160, 1993.
[0032852]23440.Miki, Y.; Taki, T.; Ohura, T.; Kato, H.; Yanagisawa, M.; Hayashi, Y.: Novel missense mutations in the glutamate dehydrogenase gene in the congenital hyperinsulinism-hyperammonemia syndrome. J. Pediat. 136: 69-72, 2000.
[0032853]23441.Nakatani, Y.; Schneider, M.; Banner, C.; Freese, E.: Complete nucleotide sequence of human glutamate dehydrogenase cDNA. Nucleic Acids Res. 16: 6237 only, 1988.
[0032854]23442.Nelson, R. L.; Povey, M. S.; Hopkinson, D. A.; Harris, H.: Electrophoresis of human L-glutamate dehydrogenase: tissue distribution and preliminary population survey. Biochem. Genet. 15: 87-91, 1977.
[0032855]23443.Plaitakis, A.; Berl, S.; Yahr, M. D.: Abnormal glutamate metabolism in an adult-onset degenerative neurological disorder. Science 216: 193-196, 1982.
[0032856]23444.Plaitakis, A.; Berl, S.; Yahr, M. D.: Neurological disorders associated with deficiency of glutamate dehydrogenase. Ann. Neurol. 15: 144-153, 1984.
[0032857]23445.Plaitakis, A.; Nicklas, W. J.; Desnick, R. J.: Glutamate dehydrogenase deficiency in three patients with spinocerebellar syndrome. Ann. Neurol. 7: 297-303, 1980.
[0032858]23446.Santer, R.; Kinner, M.; Passarge, M.; Superti-Furga, A.; Mayatepek, E.; Meissner, T.; Schneppenheim, R.; Schaub, J.: Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome. Hum. Genet. 108: 66-71, 2001.
[0032859]23447.Shaughnessy, J., Jr.; Mock, B.; Duncan, R.; Potter, M.; Banner, C.: A restriction fragment length polymorphism at murine Glud locus cosegregates with Rib-1, Es-10, and Tcra on chromosome 14. Nucleic Acids Res. 17: 2881 only, 1989.
[0032860]23448.Smith, T. J.; Peterson, P. E.; Schmidt, T.; Fang, J.; Stanley, C. A.: Structures of bovine glutamate dehydrogenase complexes elucidate the mechanism of purine regulation. J. Molec. Biol. 307: 707-720, 2001.
[0032861]23449.Sorbi, S.; Tonini, S.; Giannini, E.; Piacentini, S.; Marini, P.; Amaducci, L.: Abnormal platelet glutamate dehydrogenase activity and activation in dominant and nondominant olivopontocerebellar atrophy. Ann. Neurol. 19: 239-245, 1986.
[0032862]23450.Stanley, C. A.; Lieu, Y.; Hsu, B.; Poncz, M.: Hypoglycemia in infants with hyperinsulinism and hyperammonemia: gain of function mutations in the pathway of leucine-mediated insulin secretion. (Abstract) Diabetes 46 (suppl. 1): 217A only, 1997.
[0032863]23451.Stanley, C. A.; Lieu, Y. K.; Hsu, B. Y. L.; Burlina, A. B.; Greenberg, C. R.; Hopwood, N. J.; Perlman, K.; Rich, B. H.; Zammarchi, E.; Poncz, M.: Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. New Eng. J. Med. 338: 1352-1357, 1998.
[0032864]23452.Tzimagiorgis, G.; Adamson, M. C.; Kozak, C. A.; Moschonas, N. K.: Chromosomal mapping of glutamate dehydrogenase gene sequences to mouse chromosomes 7 and 14. Genomics 10: 83-88, 1991.
[0032865]23453.Tzimagiorgis, G.; Leversha, M. A.; Chroniary, K.; Goulielmos, G.; Sargent, C. A.; Ferguson-Smith, M.; Moschonas, N. K.: Structure and expression analysis of a member of the human glutamate dehydrogenase (GLUD) gene family mapped to chromosome 10p11.2. Hum. Genet. 91: 433-438, 1993.
[0032866]23454.Yamaguchi, T.; Hayashi, K.; Murakami, H.; Ota, K.; Maruyama, S. : Glutamate dehydrogenase deficiency in spinocerebellar degeneration. Neurochem. Res. 7: 627-636, 1982.
[0032867]23455.Agus, D. B.; Gambhir, S. S.; Pardridge, W. M.; Spielholz, C.; Baselga, J.; Vera, J. C.; Golde, D. W.: Vitamin C crosses the blood-brain barrier in the oxidized form through the glucose transporters. J. Clin. Invest. 100: 2842-2848, 1997.
[0032868]23456.Ardinger, R. H., Jr.; Buetow, K. H.; Weiss, M. J.; Nemer, M.; DeHaven, C. R.; Murray, J. C.: Multipoint linkage relationships of 6 loci on 1p (ALPL, GLUT, PGD, PGM1, PND, RH). (Abstract) Am. J. Hum. Genet. 41: A154 only, 1987.
[0032869]23457.Baroni, M. G.; Oelbaum, R. S.; Pozzilli, P.; Stocks, J.; Li, S.-R.; Fiore, V.; Galton, D. J.: Polymorphisms at the GLUT1 (HepG2) and GLUT4 (muscle/adipocyte) glucose transporter genes and non-insulin-dependent diabetes mellitus (NIDDM). Hum. Genet. 88: 557-561, 1992.
[0032870]23458.Brockmann, K.; Wang, D.; Korenke, C. G.; von Moers, A.; Ho, Y.-Y.; Pascual, J. M.; Kuang, K.; Yang, H.; Ma, L.; Kranz-Eble, P.; Fischbarg, J.; Hanefeld, F.; De Vivo, D. C.: Autosomal dominant Glut-1 deficiency syndrome and familial epilepsy. Ann. Neurol. 50: 476-485, 2001.
[0032871]23459.Klepper, J.; Willemsen, M.; Verrips, A.; Guertsen, E.; Herrmann, R.; Kutzick, C.; Florcken, A.; Voit, T.: Autosomal dominant transmission of GLUT1 deficiency. Hum. Molec. Genet. 10: 63-68, 2001.
[0032872]23460.Lazar, V.; Bidart, J.-M.; Caillou, B.; Mahe, C.; Lacroix, L.; Filetti, S.; Schlumberger, M.: Expression of the Na(+)/I(-) symporter gene in human thyroid tumors: a comparison study with other thyroid-specific genes. J. Clin. Endocr. Metab. 84: 3228-3234, 1999.
[0032873]23461.Li, S. R.; Baroni, M. G.; Oelbaum, R. S.; Stock, J.; Galton, D. J.: Association of genetic variant of the glucose transporter with non-insulin-dependent diabetes mellitus. Lancet II: 368-370, 1988.
[0032874]23462.Mueckler, M.; Caruso, C.; Baldwin, S. A.; Panico, M.; Blench, I.; Morris, H. R.; Allard, W. J.; Lienhard, G. E.; Lodish, H. F.: Sequence and structure of a human glucose transporter. Science 229: 941-945, 1985.
[0032875]23463.Sarkar, H. K.; Thorens, B.; Lodish, H. F.; Kaback, H. R.: Expression of the human erythrocyte glucose transporter in Escherichia coli. Proc. Nat. Acad. Sci. 85: 5463-5467, 1988.
[0032876]23464.Seidner, G.; Alvarez, M. G.; Yeh, J.-I.; O'Driscoll, K. R.; Klepper, J.; Stump, T. S.; Wang, D.; Spinner, N. B.; Birnbaum, M. J.; De Vivo, D. C.: GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. Nature Genet. 18: 188-191, 1998.
[0032877]23465.Shepherd, P. R.; Kahn, B. B.: Glucose transporters and insulin action: implications for insulin resistance and diabetes mellitus. New Eng. J. Med. 341: 248-257, 1999.
[0032878]23466.Shows, T. B.; Eddy, R. L.; Byers, M. G.; Fukushima, Y.; Dehaven, C. R.; Murray, J. C.; Bell, G. I.: Polymorphic human glucose transporter gene (GLUT) is on chromosome 1p31.3-p35. Diabetes 36: 546-549, 1987.
[0032879]23467.Kelley, M. J.; Pech, M.; Seuanez, H. N.; Rubin, J. S.; O'Brien, S. J.; Aaronson, S. A.: Emergence of the keratinocyte growth factor multigene family during the great ape radiation. Proc. Nat. Acad. Sci. 89: 9287-9291, 1992.
[0032880]23468.Mattei, M.-G.; deLapeyriere, O.; Bresnick, J.; Dickson, C.; Birnbaum, D.; Mason, I.: Mouse Fgf7 (fibroblast growth factor 7) and Fgf8 (fibroblast growth factor 8) genes map to chromosomes 2 and 19 respectively. Mammalian Genome 6: 196-197, 1995.
[0032881]23469.Rubin, J. S.; Osada, H.; Finch, P. W.; Taylor, W. G.; Rudikoff, S.; Aaronson, S. A.: Purification and characterization of a newly identified growth factor specific for epithelial cells. Proc. Nat. Acad. Sci. 86: 802-806, 1989.
[0032882]23470.Werner, S.; Smola, H.; Liao, X.; Longaker, M. T.; Krieg, T.; Hofschneider, P. H.; Williams, L. T.: The function of KGF in morphogenesis of epithelium and reepithelialization of wounds. Science 266: 819-822, 1994.
[0032883]23471.Zimonjic, D. B.; Kelley, M. J.; Rubin, J. S.; Aaronson, S. A.; Popescu, N. C.: Fluorescence in situ hybridization analysis of keratinocyte growth factor gene amplification and dispersion in evolution of great apes and humans. Proc. Nat. Acad. Sci. 94: 11461-11465, 1997.
[0032884]23472.Hoeck, H. C.; Vestergaard, P.; Jakobsen, P. E.; Falhof, J.; Laurberg, P.: Diagnosis of growth hormone (GH) deficiency in adults with hypothalamic-pituitary disorders: comparison of test results using pyridostigmine plus GH-releasing hormone (GHRH), clonidine plus GHRH, and insulininduced hypoglycemia as GH secretagogues. J. Clin. Endocr. Metab. 85: 1467-1472, 2000.
[0032885]23473.Igarashi, Y.; Ogawa, M.; Kamijo, T.; Iwatani, N.; Nishi, Y.; Kohno, H.; Masumura, T.; Koga, J.: A new mutation causing inherited growth hormone deficiency: a compound heterozygote of a 6.7 kb deletion and a two base deletion in the third exon of the GH-1 gene. Hum. Molec. Genet. 2: 1073-1074, 1993.
[0032886]23474.Johannsson, G.; Marin, P.; Lonn, L.; Ottosson, M.; Stenlof, K.; Bjorntorp, P.; Sjostrom, L.; Bengtsson, B.-A.: Growth hormone treatment of abdominally obese men reduces abdominal fat mass, improves glucose and lipoprotein metabolism, and reduces diastolic blood pressure. J. Clin. Endocr. Metab. 82: 727-734, 1997.
[0032887]23475.Kamijo, T.; Hayashi, Y.; Shimatsu, A.; Kinoshita, E.; Yoshimoto, M.; Ogawa, M.; Seo, H.: Mutations in intron 3 of GH-1 gene associated with isolated GH deficiency type II in three Japanese families. Clin. Endocr. 51: 355-360, 1999.
[0032888]23476.Kowarski, A. A.; Schneider J.; Ben-Galim, E.; Weldon, V. V.; Daughaday, W. H.: Growth failure with normal serum RIA-GH and low somatomedin activity: somatomedin restoration and growth acceleration after exogenous GH. J. Clin. Endocr. Metab. 47: 461-464, 1978.
[0032889]23477.Lebo, R. V.: Personal Communication. San Francisco, Calif. 7/31/1980.
[0032890]23478.Leiberman, E.; Pesler, D.; Parvari, R.; Elbedour, K.; Abdul-Latif, H.; Brown, M. R.; Parks, J. S.; Carmi, R.: Short stature in carriers of recessive mutation causing familial isolated growth hormone deficiency. Am. J. Med. Genet. 90: 188-192, 2000.
[0032891]23479.Maghnie, M.; Strigazzi, C.; Tinelli, C.; Autelli, M.; Cisternino, M.; Loche, S.; Severi, F.: Growth hormone (GH) deficiency (GHD) of childhood onset: reassessment of GH status and evaluation of the predictive criteria for permanent GHD in young adults. J. Clin. Endocr. Metab. 84: 1324-1328, 1999.
[0032892]23480.Mahajan, T.; Lightman, S. L.: A simple test for growth hormone deficiency in adults. J. Clin. Endocr. Metab. 85: 1473-1476, 2000.
[0032893]23481.Martial, J. A.; Hallewell, R. A.; Baxter, J. D.; Goodman, H. M. : Human growth hormone: complementary DNA cloning and expression in bacteria. Science 205: 602-607, 1979.
[0032894]23482.Martinez, A. S.; Domene, H. M.; Ropelato, M. G.; Jasper, H. G.; Pennisi, P. A.; Escobar, M. E.; Heinrich, J. J.: Estrogen priming effect on growth hormone (GH) provocative test: a useful tool for the diagnosis of GH deficiency. J. Clin. Endocr. Metab. 85: 4168-4172, 2000.
[0032895]23483.Masuda, N.; Watahiki, M.; Tanaka, M.; Yamakawa, M.; Shimizu, K.; Nagai, J.; Nakashima, K.: Molecular cloning of cDNA encoding 20 kDa variant human growth hormone and the alternative splicing mechanism. Biochim. Biophys. Acta 949: 125-131, 1988.
[0032896]23484.McCarthy, E. M. S.; Phillips, J. A., III: Characterization of an intron splice enhancer that regulates alternative splicing of human GH pre-mRNA. Hum. Molec. Genet. 7: 1491-1496, 1998.
[0032897]23485.Mendlewicz, J.; Linkowski, P.; Kerkhofs, M.; Leproult, R.; Copinschi, G.; Van Cauter, E.: Genetic control of 24-hour growth hormone secretion in man: a twin study. J. Clin. Endocr. Metab. 84: 856-862, 1999.
[0032898]23486.Mericq, V.; Cassorla, F.; Salazar, T.; Avila, A.; Iniguez, G.; Bowers, C. Y.; Merriam, G. R.: Effects of eight months treatment with graded doses of a growth hormone (GH)-releasing peptide in GH-deficient children. J. Clin. Endocr. Metab. 83: 2355-2360, 1998.
[0032899]23487.Morgan, J. R.; Barrandon, Y.; Green, H.; Mulligan, R. C.: Expression of an exogenous growth hormone gene by transplantable human epidermal cells. Science 237: 1476-1479, 1987.
[0032900]23488.Moseley, C. T.; Mullis, P. E.; Prince, M. A.; Phillips, J. A., III: An exon splice enhancer mutation causes autosomal dominant GH deficiency. J. Clin. Endocr. Metab. 87: 847-852, 2002.
[0032901]23489.Mullis, P. E.; Akinci, A.; Kanaka, C.; Eble, A.; Brook, C. G. D.: Prevalence of human growth hormone-1 gene deletions among patients with isolated growth hormone deficiency from different populations. Pediat. Res. 31: 532-534, 1992.
[0032902]23490.Niall, H. D.; Hogan, M. L.; Sauer, R.; Rosenblum, I. Y.; Greenwood, F. C.: Sequence of pituitary and placental lactogenic and growth hormones: evolution from a primordial peptide by gene reduplication. Proc. Nat. Acad. Sci. 68: 866-869, 1971.
[0032903]23491.Nishi, Y.; Tanaka, T.; Takano, K.; Fujieda, K.; Igarashi, Y.; Hanew, K.; Hirano, T.; Yokoya, S; Tachibana, K.; Saito, T.; Watanabe, S.: Recent status in the occurrence of leukemia in growth hormone-treated patients in Japan. J. Clin. Endocr. Metab. 84: 1961-1965, 1999.
[0032904]23492.Paladini, A. C.; Pena, C.; Retegui, L. A.: The intriguing nature of the multiple actions of growth hormone. Trends Biochem. Sci. 4: 256-260, 1979.
[0032905]23493.Pena-Almazan, S.; Buchlis, J.; Miller, S.; Shine, B.; Macgillivray, M.: Linear growth characteristics of congenitally GH-deficient infants from birth to one year of age. J. Clin. Endocr. Metab. 86: 5691-5694, 2001.
[0032906]23494.Pfeifer, M.; Verhovec, R.; Zizek, B.; Prezelj, J.; Poredos, P.; Clayton, R. N.: Growth hormone (GH) treatment reverses early atherosclerotic changes in GH-deficient adults. J. Clin. Endocr. Metab. 84: 453-457, 1999.
[0032907]23495.Phillips, J. A., III: Inherited defects in growth hormone synthesis and action.In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic and Molecular Bases of Inherited Disease. Vol. II. New York: McGraw-Hill (7th ed.): 1995. Pp. 3023-3044.
[0032908]23496.Phillips, J. A., III: Personal Communication. Baltimore, Md. 1/17/1983.
[0032909]23497.Phillips, J. A., III; Cogan, J. D.: Genetic basis of endocrine disease 6: molecular basis of familial human growth hormone deficiency. J. Clin. Endocr. Metab. 78: 11-16, 1994.
[0032910]23498.Phillips, J. A., III; Hjelle, B. L.; Seeburg, P. H.; Plotnick, L. P.; Migeon, C. J.; Zachmann, M.: Heterogeneity in the molecular basis of familial growth hormone deficiency (IGHD). (Abstract) Am. J. Hum. Genet. 33: 52A, 1981.
[0032911]23499.Rappaport, R.; Mugnier, E.; Limoni, C.; Crosnier, H.; Czernichow, P.; Leger, J.; Limal, J.-M.; Rochiccioli, P.; Soskin, S.; Brauner, R.; Pinto, G.; Pawels, C.; and 27 others: A 5-year prospective study of growth hormone (GH)-deficient children treated with GH before the age of 3 years. J. Clin. Endocr. Metab. 82: 452-456, 1997.
[0032912]23500.Buckingham, M.; Alonso, S.; Barton, P.; Cohen, A.; Daubas, P.; Garner, I.; Robert, B.; Weydert, A.: Actin and myosin multigene families: their expression during the formation and maturation of striated muscle. Am. J. Med. Genet. 25: 623-634, 1986.
[0032913]23501.Edwards, Y. H.; Parkar, M.; Povey, S.; West, L. F.; Parrington, J. M.; Solomon, E.: Human myosin heavy chain genes assigned to chromosome 17 using a human cDNA clone as probe. Ann. Hum. Genet. 49: 101-109, 1985.
[0032914]23502.Epp, T. A.; Dixon, I. M. C.; Wang, H.-Y.; Sole, M. J.; Liew, C.-C. : Structural organization of the human cardiac alpha-myosin heavy chain gene (MYH6). Genomics 18: 505-509, 1993.
[0032915]23503.Geisterfer-Lowrance, A. A. T.; Kass, S.; Tanigawa, G.; Vosberg, H.-P.; McKenna, W.; Seidman, C. E.; Seidman, J. G.: A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. Cell 62: 999-1006, 1990.
[0032916]23504.Jaenicke, T.; Diederich, K. W.; Haas, W.; Schleich, J.; Lichter, P.; Pfordt, M.; Bach, A.; Vosberg, H.-P.: The complete sequence of the human beta-myosin heavy chain gene and a comparative analysis of its product. Genomics 8: 194-206, 1990.
[0032917]23505.Kurabayashi, M.; Tsuchimochi, H.; Komuro, I.; Takaku, F.; Yazaki, Y.: Molecular cloning and characterization of human cardiac alpha- and beta-form myosin heavy chain complementary DNA clones: regulation of expression during development and pressure overload in human atrium. J. Clin. Invest. 82: 524-531, 1988.
[0032918]23506.Lichter, P.; Umeda, P. K.; Levin, J. E.; Vosberg, H.-P.: Partial characterization of the human beta-myosin heavy-chain gene which is expressed in heart and skeletal muscle. Europ. J. Biochem. 160: 419-426, 1986.
[0032919]23507.Mahdavi, V.; Chambers, A. P.; Nadal-Ginard, B.: Cardiac alpha- and beta-myosin heavy chain genes are organized in tandem. Proc. Nat. Acad. Sci. 81: 2626-2630, 1984.
[0032920]23508.Mahdavi, V.; Periasamy, M.; Nadal-Ginard, B.: Molecular characterization of two myosin heavy chain genes expressed in the adult heart. Nature 297: 659-664, 1982.
[0032921]23509.Matsuoka, R.; Chambers, A.; Kimura, M.; Kanda, N.; Bruns, G.; Yoshida, M.; Takao, A.: Molecular cloning and chromosomal localization of a gene coding for human cardiac myosin heavychain. Am. J. Med. Genet. 29: 369-376, 1988.
[0032922]23510.Matsuoka, R.; Yoshida, M. C.; Kanda, N.; Kimura, M.; Ozasa, H.; Takao, A.: Human cardiac myosin heavy chain gene mapped within chromosome region 14q11.2-q13. Am. J. Med. Genet. 32: 279-284, 1989.
[0032923]23511.Nadal-Ginard, B.; Mahdavi, V.: Molecular basis of cardiac performance: plasticity of the myocardium generated through protein isoform switches. J. Clin. Invest. 84: 1693-1700, 1989.
[0032924]23512.Niimura, H.; Patton, K. K.; McKenna, W. J.; Soults, J.; Maron, B. J.; Seidman, J. G.; Seidman, C. E.: Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. Circulation 105: 446-451, 2002.
[0032925]23513.Rappold, G. A.; Vosberg, H.-P.: Chromosomal localization of a human myosin heavychain gene by in situ hybridization. Hum. Genet. 65: 195-197, 1983.
[0032926]23514.Adams, J. G., III; Morrison, W. T.; Steinberg, M. H.: A double crossover within a single human gene: Hb Parchman (NH-2-delta-beta-delta-COOH). (Abstract) Am. J. Hum. Genet. 33: 34A only, 1981.
[0032927]23515.Adams, J. G., III; Morrison, W. T.; Steinberg, M. H.: Hemoglobin Parchman: double crossover within a single human gene. Science 218: 291-293, 1982.
[0032928]23516.Ahern, E. J.; Ahern, V. N.; Aarons, G. H.; Jones, R. T.; Brimhall, B.: Hemoglobin Lepore Washington in two Jamaican families: interaction with beta chain variants. Blood 40: 246-256, 1972.
[0032929]23517.Baglioni, C.: The fusion of two peptide chains in hemoglobin Lepore and its interpretation as a genetic deletion. Proc. Nat. Acad. Sci. 48: 1880-1886, 1962.
[0032930]23518.Baglioni, C.; Ventruto, V.: Human abnormal hemoglobins. II. A chemical study of hemoglobin Lepore from a homozygote individual. Europ. J. Biochem. 5: 29-32, 1968.
[0032931]23519.McLean, R. H.; Hoefnagel, D.: Partial lipodystrophy and familial C3 deficiency. Hum. Hered. 30: 149-154, 1980.
[0032932]23520.Reaven, G. M.: Role of insulin resistance in human disease. Diabetes 37: 1595-1607, 1988.
[0032933]23521.Sparkes, R. S.; Zollman, S.; Klisak, I.; Kirchgessner, T. G.; Komaromy, M. C.; Mohandas, T.; Schotz, M. C.; Lusis, A. J.: Human genes involved in lipolysis of plasma lipoproteins: mapping of loci for lipoprotein lipase to 8p22 and hepatic lipase to 15q21. Genomics 1: 138-144, 1987.
[0032934]23522.Nurden, A. T.; Didry, D.; Kieffer, N.; McEver, R. P.: Residual amounts of glycoproteins IIb and IIIa may be present in the platelets of most patients with Glanzmann's thrombasthenia. Blood 65: 1021-1024, 1985.
[0032935]23523.Nurden, A. T.; Rosa, J.-P.; Fournier, D.; Legrand, C.; Didry, D.; Parquet, A.; Pidard, D.: A variant of Glanzmann's thrombasthenia with abnormal glycoprotein IIb-IIIa complexes in the platelet membrane. J. Clin. Invest. 79: 962-969, 1987.
[0032936]23524.Budka, H.; Sluga, E.; Heiss, W.-D.: Spastic paraplegia associated with Addison's disease: adult variant of adreno-leukodystrophy. J. Neurol. 213: 237-250, 1976.
[0032937]23525.Cremers, F. P. M.; Pfeiffer, R. A.; van de Pol, T. J. R.; Hofker, M. H.; Kruse, T. A.; Wieringa, B.; Ropers, H. H.: An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region. Hum. Genet. 77: 23-27, 1987.
[0032938]23526.Bauer, P.; Knoblich, R.; Bauer, C.; Finckh, U.; Hufen, A.; Kropp, J.; Braun, S.; Kustermann-Kuhn, B.; Schmidt, D.; Harzer, K.; Rolfs, A.: NPC1: complete genomic sequence, mutation analysis, and characterization of haplotypes. Hum. Mutat. 19: 30-38, 2002.
[0032939]23527.Besley, G. T. N.; Hoogeboom, A. J. M.; Hoogeveen, A.; Kleijer, W. J.; Galjaard, H.: Somatic cell hybridisation studies showing different gene mutations in Niemann-Pick variants. Hum. Genet. 54: 409-412, 1980.
[0032940]23528.Blanchette-Mackie, E. J.; Dwyer, N. K.; Amende, L. M.; Kruth, H. S.; Butler, J. D.; Sokol, J.; Comly, M. E.; Vanier, M. T.; August, J. T.; Brady, R. O.; Pentchev, P. G.: Type-C Niemann-Pick disease: low density lipoprotein uptake is associated with premature cholesterol accumulation in the Golgi complex and excessive cholesterol storage in lysosomes. Proc. Nat. Acad. Sci. 85: 8022-8026, 1988.
[0032941]23529.Boustany, R.-M. N.; Kaye, E.; Alroy, J.: Ultrastructural findings in skin from patients with Niemann-Pick disease, type C. Pediat. Neurol. 6: 177-183, 1990.
[0032942]23530.Brady, R. O.: Personal Communication. Bethesda, Md. 3/7/1986.
[0032943]23531.Brady, R. O.: Sphingomyelin lipidoses: Niemann-Pick disease.In: Stanbury, J. B.; Wyngaarden, J. B.; Fredrickson, D. S.; Goldstein, J. L.; Brown, M. S.: The Metabolic Basis of Inherited Disease. New York: McGraw-Hill (pub.) (5th ed.): 1983. Pp. 731 only.
[0032944]23532.Brown, D. E.; Thrall, M. A.; Walkley, S. U.; Wenger, D. A.; Mitchell, T. W.; Smith, M. O.; Royals, K. L.; March, P. A.; Allison, R. W.: Feline Niemann-Pick disease type C. Am. J. Path. 144: 1412-1415, 1994.
[0032945]23533.Carstea, E. D.; Morris, J. A.; Coleman, K. G.; Loftus, S. K.; Zhang, D.; Cummings, C.; Gu, J.; Rosenfeld, M. A.; Pavan, W. J.; Krizman, D. B.; Nagle, J.; Polymeropoulos, M. H.; and 26 others: Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science 277: 228-231, 1997.
[0032946]23534.Carstea, E. D.; Parker, C. C.; Fandino, L. B.; Vanier, M. T.; Overhauser, J.; Weissenbach, J.; Pentchev, P. G.; Brady, R. O.; Polymeropoulos, M. H.: Localizing the human Niemann-Pick C gene to 18q11-12. (Abstract) Am. J. Hum. Genet. 55 (suppl.): A182, 1994.
[0032947]23535.Carstea, E. D.; Polymeropoulos, M. H.; Parker, C. C.; Detera-Wadleigh, S. D.; O'Neill, R. R.; Patterson, M. C.; Goldin, E.; Xiao, H.; Straub, R. E.; Vanier, M. T.; Brady, R. O.; Pentchev, P. G.: Linkage of Niemann-Pick disease type C to human chromosome 18. Proc. Nat. Acad. Sci. 90: 2002-2004, 1993.
[0032948]23536.Ceuterick, C.; Martin, J. J.: Nerve biopsy findings in Niemann-Pick type II (NPC). (Letter) Acta Neuropath. 88: 602-603, 1994.
[0032949]23537.Christomanou, H.: Niemann-Pick disease, type C: evidence for the deficiency of an activating factor stimulating sphingomyelin and glucocerebroside degradation. Hoppe Seylers Z. Physiol. Chem. 361: 1489-1502, 1980.
[0032950]23538.Davies, J. P.; Chen, F. W.; Ioannou, Y. A.: Transmembrane molecular pump activity of Niemann-Pick C1 protein. Science 290: 2295-2298, 2000.
[0032951]23539.Erickson, R. P.; Garver, W. S.; Camargo, F.; Hossain, G. S.; Heidenreich, R. A.: Pharmacological and genetic modifications of somatic cholesterol do not substantially alter the course of CNS disease in Niemann-Pick C mice. J. Inherit. Metab. Dis. 23: 54-62, 2000.
[0032952]23540.Fink, J. K.; Filling-Katz, M. R.; Sokol, J.; Cogan, D. G.; Pikus, A.; Sonies, B.; Soong, B.; Pentchev, P. G.; Comly, M. E.; Brady, R. O.; Barton, N. W.: Clinical spectrum of Niemann-Pick disease type C. Neurology 39: 1040-1049, 1989.
[0032953]23541.Gilbert, E. F.; Callahan, J.; Viseskul, C.; Opitz, J. M.: Niemann-Pick disease type C: pathological, histochemical, ultrastructural and biochemical studies. Europ. J. Pediat. 136: 263-274, 1981.
[0032954]23542.Greer, W. L.; Dobson, M. J.; Girouard, G. S.; Byers, D. M.; Riddell, D. C.; Neumann, P. E.: Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain. Am. J. Hum. Genet. 65: 1252-1260, 1999.
[0032955]23543.Greer, W. L.; Riddell, D. C.; Byers, D. M.; Welch, J. P.; Girouard, G. S.; Sparrow, S. M.; Gillan, T. L.; Neumann, P. E.: Linkage of Niemann-Pick disease type D to the same region of human chromosome 18 as Niemann-Pick disease type C. Am. J. Hum. Genet. 61: 139-142, 1997.
[0032956]23544.Greer, W. L.; Riddell, D. C.; Gillan, T. L.; Girouard, G. S.; Sparrow, S. M.; Byers, D. M.; Dobson, M. J.; Neumann, P. E.: The Nova Scotia (type D) form of Niemann-Pick disease is caused by a 3097G-T transversion in NPC1. Am. J. Hum. Genet. 63: 52-54, 1998.
[0032957]23545.Imrie, J.; Wraith, J. E.: Niemann-Pick disease type C. Arch. Dis. Child. 84: 427-429, 2001.
[0032958]23546.Ioannou, Y. A.: The structure and function of the Niemann-Pick C1 protein. Molec. Genet. Metab. 71: 175-181, 2000.
[0032959]23547.Kruth, H. S.; Comly, M. E.; Butler, J. D.; Vanier, M. T.; Fink, J. K.; Wenger, D. A.; Patel, S.; Pentchev, P. G.: Type C Niemann-Pick disease: abnormal metabolism of low density lipoprotein in homozygous and heterozygous fibroblasts. J. Biol. Chem. 261: 16769-16774, 1986.
[0032960]23548.Liscum, L.; Faust, J. R.: Low density lipoprotein (LDL)-mediated suppression of cholesterol synthesis and LDL uptake is defective in Niemann-Pick type C fibroblasts. J. Biol. Chem. 262: 17002-17008, 1987.
[0032961]23549.Liu, Y.; Wu, Y.-P.; Wada, R.; Neufeld, E. B.; Mullin, K. A.; Howard, A. C.; Pentchev, P. G.; Vanier, M. T.; Suzuki, K.; Proia, R. L.: Alleviation of neuronal ganglioside storage does not improve the clinical course of the Niemann-Pick C disease mouse. Hum. Molec. Genet. 9: 1087-1092, 2000.
[0032962]23550.Loftus, S. K.; Morris, J. A.; Carstea, E. D.; Gu, J. Z.; Cummings, C.; Brown, A.; Ellison, J.; Ohno, K.; Rosenfeld, M. A.; Tagle, D. A.; Pentchev, P. G.; Pavan, W. J.: Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene. Science 277: 232-235, 1997.
[0032963]23551.Lowenthal, A. C.; Cummings, J. F.; Wenger, D. A.; Thrall, M. A.; Wood, P. A.; de Lahunta, A.: Feline sphingolipidosis resembling Niemann-Pick disease type C. Acta Neuropath. 81: 189-197, 1990.
[0032964]23552.Meiner, V.; Shpitzen, S.; Mandel, H.; Klar, A.; Ben-Neriah, Z.; Zlotogora, J.; Sagi, M.; Lossos, A.; Bargal, R.; Sury, V.; Carmi, R.; Leitersdorf, E.; Zeigler, M.: Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C. Genet. Med. 3: 343-348, 2001.
[0032965]23553.Cappa, M.; Bertini, E.; del Balzo, P.; Cambiaso, P.; Di Biase, A.; Salvati, S.: High dose immunoglobulin IV treatment in adrenoleukodystrophy. J. Neurol. Neurosurg. Psychiat. 57 (suppl.): 69-70, 1994.
[0032966]23554.Cartier, N.; Sarde, C.-O.; Douar, A.-M.; Mosser, J.; Mandel, J.-L.; Aubourg, P.: Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy. Hum. Molec. Genet. 2: 1949-1951, 1993.
[0032967]23555.Cotrufo, R.; Melone, M. A. B.; Monsurro, M. R.; Di Iorio, G.; Carella, C.; Moser, H. W.: Phenotype heterogeneity among hemizygotes in a family biochemically screened for adrenoleukodystrophy. Am. J. Med. Genet. 26: 833-838, 1987.
[0032968]23556.Davis, L. E.; Snyder, R. D.; Orth, D. N.; Nicholson, W. E.; Kornfeld, M.; Seelinger, D. F.: Adrenoleukodystrophy and adrenomyeloneuropathy associated with partial adrenal insufficiency in three generations of a kindred. Am. J. Med. 66: 342-347, 1979.
[0032969]23557.Di Chiro, G.; Eiben, R. M.; Manz, H. J.; Jacobs, I. B.; Schellinger, D.: A new CT pattern in adrenoleukodystrophy. Radiology 137: 687-692, 1980.
[0032970]23558.Di Rocco, M.; Doria-Lamba, L.; Caruso, U.: Monozygotic twins with X-linked adrenoleukodystrophy and different phenotypes. Ann. Neurol. 50: 424 only, 2001.
[0032971]23559.Dodd, A.; Rowland, S. A.; Hawkes, S. L. J.; Kennedy, M. A.; Love, D. R.: Mutations in the adrenoleukodystrophy gene. Hum. Mutat. 9: 500-511, 1997.
[0032972]23560.Dvorakova, L.; Storkanova, G.; Unterrainer, G.; Hujova, J.; Kmoch, S.; Zeman, J.; Hrebicek, M.; Berger, J.: Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: the first polymorphism causing an amino acid exchange. Hum. Mutat. 18: 52-60, 2001.
[0032973]23561.Eichler, E. E.; Budarf, M. L.; Rocchi, M.; Deaven, L. L.; Doggett, N. A.; Baldini, A.; Nelson, D. L.; Mohrenweiser, H. W.: Interchromosomal duplications of the adrenoleukodystrophy locus: a phenomenon of pericentromeric plasticity. Hum. Molec. Genet. 6: 991-1002, 1997.
[0032974]23562.El-Deiry, S. S.; Naidu, S.; Blevins, L. S.; Ladenson, P. W.: Assessment of adrenal function in women heterozygous for adrenoleukodystrophy. J. Clin. Endocr. Metab. 82: 856-860, 1997.
[0032975]23563.Fanconi, A.; Prader, A.; Isler, W.; Luthy, F.; Siebenmann, R. E.: Morbus Addison mit Hirnsklerose im Kindesalter. Ein hereditaeres Syndrom mit X-chromosomaler Vererbung? Helv. Paediat. Acta 18: 480-501, 1963.
[0032976]23564.Fanen, P.; Guidoux, S.; Sarde, C.-O.; Mandel, J.-L.; Goossens, M.; Aubourg, P.: Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene. J. Clin. Invest. 94: 516-520, 1994.
[0032977]23565.Federico, A.; Dotti, M. T.; Annunziata, P.; Bonuccelli, U.; Fenzi, G.; Ciacci, G.; Malandrini, A.; Meucci, G.; Guazzi, G. C.: Adrenomyeloneurodystrophy with late cerebral involvement and evidence of a multiple autoimmune disorder. J. Inherit. Metab. Dis. 11 (suppl. 2): 169-172, 1988.
[0032978]23566.Feil, R.; Aubourg, P.; Mosser, J.; Douar, A.-M.; Le Paslier, D.; Philippe, C.; Mandel, J.-L.: Adrenoleukodystrophy: a complex chromosomal rearrangement in the Xq28 red/green-colorpigment gene region indicates two possible gene locations. Am. J. Hum. Genet. 49: 1361-1371, 1991.
[0032979]23567.Forss-Petter, S.; Werner, H.; Berger, J.; Lassmann, H.; Molzer, B.; Schwab, M. H.; Bernheimer, H.; Zimmermann, F.; Nave, K.-A.: Targeted inactivation of the X-linked adrenoleukodystrophy gene in mice. J. Neurosci. Res. 50: 829-843, 1997.
[0032980]23568.Fuchs, S.; Sarde, C. O.; Wedemann, H.; Schwinger, E.; Mandel, J. L.; Gal, A.: Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD). Hum. Molec. Genet. 3: 1903-1905, 1994.
[0032981]23569.Griffin, J. W.; Goren, E.; Schaumburg, H. H.; Engel, W. K.; Loriaux, L.: Adrenomyeloneuropathy: a probable variant of adrenoleukodystrophy. I. Clinical and endocrinologic aspects. Neurology 27: 1107-1113, 1977.
[0032982]23570.Guimaraes, C. P.; Lemos, M.; Menezes, I.; Coelho, T.; Sa-Miranda, C.; Azevedo, J. E.: Characterisation of two mutations in the ABCD1 gene leading to low levels of normal ALDP. Hum. Genet. 109: 616-622, 2001.
[0032983]23571.Gumbinas, M.; Liu, H. M.; Dawson, G.; Larsen, M.; Green, O.: Progressive spastic aparaparesis and adrenal insufficiency. Arch. Neurol. 33: 678-680, 1976.
[0032984]23572.Haberfeld, W.; Spieler, F.: Zur diffusen Hirn-Ruckenmarksklerose im Kindesalter. Dt. Z. Nervheilk 40: 436-463, 1910.
[0032985]23573.Harris-Jones, J. N.; Nixon, P. G. F.: Familial Addison's disease with spastic paraplegia. J. Clin. Endocr. 15: 739-744, 1955.
[0032986]23574.Hashmi, M.; Stanley, W.; Singh, I.: Lignoceroyl-CoASH ligase: enzyme defect in fatty acid beta-oxidation system in X-linked childhood adrenoleukodystrophy. FEBS Lett. 196: 247-250, 1986.
[0032987]23575.Hecaen, H.; De Ajuriaguerra, J.: Balint's syndrome (psychic paralysis of visual fixation) and its minor forms. Brain 77: 373-400, 1954.
[0032988]23576.Heffungs, W.; Hameister, H.; Ropers, H. H.: Addison disease and cerebral sclerosis in an apparently heterozygous girl: evidence for inactivation of the adrenoleukodystrophy locus. Clin. Genet. 18: 184-188, 1980.
[0032989]23577.Ho, J. K.; Moser, H.; Kishimoto, Y.; Hamilton, J. A.: Interactions of a very long chain fatty acid with model membranes and serum albumin: implications for the pathogenesis of adrenoleukodystrophy. J. Clin. Invest. 96: 1455-1463, 1995.
[0032990]23578.Hoefnagel, D.; Brun, A.; Ingbar, S. H.; Goldman, H.: Addison's disease and diffuse cerebral sclerosis. J. Neurol. Neurosurg. Psychiat. 30: 56-60, 1967.
[0032991]23579.Hoefnagel, D.; Van den Noort, S.; Ingbar, S. H.: Diffuse cerebral sclerosis with endocrine abnormalities in young males. Brain 85: 553-568, 1962.
[0032992]23580.Holmberg, B. H.; Hagg, E.; Hagenfeldt, L.: Adrenomyeloneuropathy--report on a family. J. Intern. Med. 230: 535-538, 1991.
[0032993]23581.Igarashi, M.; Schaumburg, H. H.; Powers, J.; Kishimoto, Y.; Kolodny, E. H.; Suzuki, K.: Fatty acid abnormality in adrenoleukodystrophy. J. Neurochem. 26: 851-860, 1976.
[0032994]23582.Kano, S.; Watanabe, M.; Kanai, M.; Koike, R.; Onodera, O.; Tsuji, S.; Okamoto, K.; Shoji, M.: A Japanese family with adrenoleukodystrophy with a codon 291 deletion: a clinical, biochemical, pathological, and genetic report. J. Neurol. Sci. 158: 187-192, 1998.
[0032995]23583.Kemp, S.; Ligtenberg, M. J. L.; van Geel, B. M.; Barth, P. G.; Sarde, C.-O.; van Oost, B. A.; Bolhuis, P. A.: Two intronic mutations in the adrenoleukodystrophy gene. Hum. Mutat. 6: 272-273, 1995.
[0032996]23584.Kemp, S.; Pujol, A.; Waterham, H. R.; van Geel, B. M.; Boehm, C. D.; Raymond, G. V.; Cutting, G. R.; Wanders, R. J. A.; Moser, H. W.: ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations. Hum. Mutat. 18: 499-515, 2001.
[0032997]23585.Ito, M.; Yuan, C.-X.; Malik, S.; Gu, W.; Fondell, J. D.; Yamamura, S.; Fu, Z.-Y.; Zhang, X.; Qin, J.; Roeder, R. G.: Identity between TRAP and SMCC complexes indicates novel pathways for the function of nuclear receptors and diverse mammalian activators. Molec. Cell 3: 361-370, 1999.
[0032998]23586.Nagase, T.; Seki, N.; Ishikawa, K.; Tanaka, A.; Nomura, N.: Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1. DNA Res. 3: 17-24, 1996.
[0032999]23587.Maeda, K.; Matsuhashi, S.; Hori, K.; Xin, Z.; Mukai, T.; Tabuchi, K.; Egashira, M.; Niikawa, N.: Cloning and characterization of a novel human gene, TM4SF6, encoding a protein belonging to the transmembrane 4 superfamily, and mapped to Xq22. Genomics 52: 240-242, 1998.
[0033000]23588.Todd, S. C.; Doctor, V. S.; Levy, S.: Sequences and expression of six new members of the tetraspanin/TM4SF family. Biochim. Biophys. Acta 1399: 101-104, 1998.
[0033001]23589.Vaccari, T.; Beltrame, M.; Ferrari, S.; Bianchi, M. E.: Hmg4, a new member of the Hmg1/2 gene family. Genomics 49: 247-252, 1998.
[0033002]23590.Wilke, K.; Wiemann, S.; Gaul, R.; Gong, W.; Poustka, A.: Isolation of human and mouse HMG2a cDNAs: evidence for an HMG2a-specific 3-prime untranslated region. Gene 198: 269-274, 1997.
[0033003]23591.Bird, A. P.: HTF islands as gene markers in the vertebrate nucleus. Trends Genet. 3: 342-347, 1987.
[0033004]23592.Anson, D. S.; Blake, D. J.; Winship, P. R.; Birnbaum, D.; Brownlee, G. G.: Nullisomic deletion of the mcf.2 transforming gene in two haemophilia B patients. EMBO J. 7: 2795-2799, 1988.
[0033005]23593.Gong, Y.; Slee, R. B.; Fukai, N.; Rawadi, G.; Roman-Roman, S.; Reginato, A. M.; Wang, H.; Cundy, T.; Glorieux, F. H.; Lev, D.; Zacharin, M.; Oexle, K.; and 50 others: LDL receptorrelated protein 5 (LRP5) affects bone accrual and eye development. Cell 107: 513-523, 2001.
[0033006]23594.Abadie, V.; Jaruzelska, J.; Lyonnet, S.; Millasseau, P.; Berthelon, M.; Rey, F.; Munnich, A.; Rey, J.: Illegitimate transcription of the phenylalanine hydroxylase gene in lymphocytes for identification of mutations in phenylketonuria. Hum. Molec. Genet. 2: 31-34, 1993.
[0033007]23595.Abadie, V.; Lyonnet, S.; Maurin, N.; Berthelon, M.; Caillaud, C.; Giraud, F.; Mattei, J.-F.; Rey, J.; Rey, F.; Munnich, A.: CpG dinucleotides are mutation hot spots in phenylketonuria. Genomics 5: 936-939, 1989.
[0033008]23596.Abadie, V.; Lyonnet, S.; Maurin, N.; Berthelon, M.; Caillaud, C.; Giraud, F.; Mattei, J.-F.; Rey, J.; Rey, F.; Munnich, A.: CpG dinucleotides are mutation hot spots in phenylketonuria. (Abstract) Am. J. Hum. Genet. 45 (suppl.): A169 only, 1989.
[0033009]23597.Weiss, P.; Tietze, F.; Gahl, W. A.; Seppala, R.; Ashwell, G.: Identification of the metabolic defect in sialuria. J. Biol. Chem. 264: 17635-17636, 1989.
[0033010]23598.Kennedy, M. A.; Rowland, S. A.; Miller, A. L.; Morris, C. M.; Neville, L. A.; Dodd, A.; Fifield, W. J.; Love, D. R.: Structure and location of the murine adrenoleukodystrophy gene. Genomics 32: 395-400, 1996.
[0033011]23599.Bassi, M. T.; Ramesar, R. S.; Caciotti, B.; Winship, I. M.; De Grandi, A.; Riboni, M.; Townes, P. L.; Beighton, P.; Ballabio, A.; Borsani, G.: X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats. Am. J. Hum. Genet. 64: 1604-1616, 1999.
[0033012]23600.Converse, P. J.: Personal Communication. Baltimore, Md. 8/24/2001.
[0033013]23601.Disteche, C. M.; Dinulos, M. B.; Bassi, M. T.; Elliott, R. W.; Rugarli, E. I.: Mapping of the murine Tbl1 gene reveals a new rearrangement between mouse and human X chromosomes. Mammalian Genome 9: 1062-1064, 1998.
[0033014]23602.Dong, X.; Tsuda, L.; Zavitz, K. H.; Lin, M.; Li, S.; Carthew, R. W.; Zipursky, S. L.: ebi regulates epidermal growth factor receptor signaling pathways in Drosophila. Genes Dev. 13: 954-965, 1999.
[0033015]23603.Matsuzawa, S.; Reed, J. C.: Siah-1, SIP, and Ebi collaborate in a novel pathway for beta-catenin degradation linked to p53 responses. Molec. Cell 7: 915-926, 2001.
[0033016]23604.Zhang, J.; Kalkum, M.; Chait, B. T.; Roeder, R. G.: The N-CoR-HDAC3 nuclear receptor corepressor complex inhibits the JNK pathway through the integral subunit GPS2. Molec. Cell 9: 611-623, 2002.
[0033017]23605.Mu, J.; Skurat, A. V.; Roach, P. J.: Glycogenin-2, a novel self-glucosylating protein involved in liver glycogen biosynthesis. J. Biol. Chem. 272: 27589-27597, 1997.
[0033018]23606.Bartley, J. A.; Miller, D. K.; Hayford, J. T.; McCabe, E. R. B. : Concordance of Xlinked glycerol kinase deficiency with X-linked congenital adrenal hypoplasia. Lancet II: 733-736, 1982.
[0033019]23607.Jansen, G. A.; Ofman, R.; Ferdinandusse, S.; Ijlst, L.; Muijsers, A. O.; Skjeldal, O. H.; Stokke, O.; Jakobs, C.; Besley, G. T. N.; Wraith, J. E.; Wanders, R. J. A.: Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene. Nature Genet. 17: 190-193, 1997.
[0033020]23608.Mihalik, S. J.; Morrell, J. C.; Kim. D.; Sacksteder, K. A.; Watkins, P. A.; Gould, S. J.: Identification of PAHX, a Refsum disease gene. Nature Genet. 17: 185-189, 1997.
[0033021]23609.Wilcken, B.; Don, N.; Greenaway, R.; Hammond, J.; Sosula, L.: Sialuria: a second case. J. Inherit. Metab. Dis. 10: 97-102, 1987.
[0033022]23610.Bickel, H.; Gerrard, J.; Hickmans, E. M.: Influence of phenylalanine intake on phenylketonuria. Lancet 2: 812-813, 1953.
[0033023]23611.Bowden, J. A.; McArthur, C. L., III: Possible biochemical model for phenylketonuria. Nature 235: 230, 1972.
[0033024]23612.Brenton, D. P.; Lilburn, M.: Maternal phenylketonuria: a study from the United Kingdom. Europ. J. Pediat. 155 (suppl. 1): 177-180, 1996.
[0033025]23613.Burgard, P.; Rupp, A.; Konecki, D. S.; Trefz, F. K.; Schmidt, H.; Lichter-Konecki, U.: Phenylalanine hydroxylase genotypes, predicted residual enzyme activity and phenotypic parameters of diagnosis and treatment of phenylketonuria. Europ. J. Pediat. 155 (suppl.): S11-S15, 1996.
[0033026]23614.Byck, S.; Tyfield, L.; Carter, K.; Scriver, C. R.: Prediction of multiple hypermutable codons in the human PAH gene: codon 280 contains recurrent mutations in Quebec and other populations. Hum. Mutat. 9: 316-321, 1997.
[0033027]23615.Cabalska, B.: Personal Communication. Warsaw, Poland 1980.
[0033028]23616.Caillaud, C.; Lyonnet, S.; Rey, F.; Melle, D.; Frebourg, T.; Berthelon, M.; Vilarinho, L.; Vaz Osorio, R.; Rey, J.; Munnich, A.: A 3-base pair in-frame deletion of the phenylalanine hydroxylase gene results in a kinetic variant of phenylketonuria. J. Biol. Chem. 266: 9351-9354, 1991.
[0033029]23617.Carter, C. O.; Woolf, L. I.: The birthplaces of parents and grandparents of a series of patients with phenylketonuria in southeast England. Ann. Hum. Genet. 25: 57-64, 1961.
[0033030]23618.Carter, K. C.; Byck, S.; Waters, P. J.; Richards, B.; Nowacki, P. M.; Laframboise, R.; Lambert, M.; Treacy, E.; Scriver, C. R.: Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: the Quebec experience. Europ. J. Hum. Genet. 6: 61-70, 1998.
[0033031]23619.Centerwall, W. R.; Neff, C. A.: Phenylketonuria: a case report of children of Jewish ancestry. Arch. Pediat. 78: 379-384, 1961.
[0033032]23620.Chao, H.-K.; Hsiao, K.-J.; Su, T.-S.: A silent mutation induces exon skipping in the phenylalanine hydroxylase gene in phenylketonuria. Hum. Genet. 108: 14-19, 2001.
[0033033]23621.Chen, K.-J.; Chao, H.-K.; Hsaio, K.-J.; Su, T.-S.: Identification and characterization of a novel liver-specific enhancer of the human phenylalanine hydroxylase gene. Hum. Genet. 110: 235-243, 2002.
[0033034]23622.Chen, S.-H.; Hsiao, K.-J.; Lin, L.-H.; Liu, T.-T.; Tang, R.-B.; Su, T.-S.: Study of restriction fragment length polymorphisms at the human phenylalanine hydroxylase locus and evaluation of its potential application in prenatal diagnosis of phenylketonuria in Chinese. Hum. Genet. 81: 226-230, 1989.
[0033035]23623.Cipcic-Schmidt, S.; Trefz, F. K.; Funders, B.; Seidlitz, G.; Ullrich, K.: German maternal phenylketonuria study. Europ. J. Pediat. 155 (suppl. 1): 173-176, 1996.
[0033036]23624.Cohen, B. E.; Bodonyi, E.; Szeinberg, A.: Phenylketonuria in Jews. Lancet I: 344-345, 1961.
[0033037]23625.Corsello, G.; Bosco, P.; Cali, F.; Greco, D.; Cammarata, M.; Ciaccio, M.; Piccione, M.; Romano, V.: Maternal phenylketonuria in two Sicilian families identified by maternal blood phenylalanine level screening and identification of a new phenylalanine hydroxylase gene mutation (P407L). (Letter) Europ. J. Pediat. 158: 83-88, 1999.
[0033038]23626.Coskun, T.; Ozalp, I.; Kale, G.; Gogus, S.: Scleroderma-like skin lesions in two patients with phenylketonuria. Europ. J. Pediat. 150: 109-110, 1990.
[0033039]23627.Cotton, R. G. H.: Heterogeneity of phenylketonuria at the clinical, protein and DNA levels. J. Inherit. Metab. Dis. 13: 739-750, 1990.
[0033040]23628.Cunningham, G. C.; Day, R. W.; Berman, J. L.; Hsia, D. Y.-Y.: Phenylalanine tolerance tests in families with phenylketonuria and hyperphenylalaninemia. Am. J. Dis. Child. 117: 626-635, 1969.
[0033041]23629.Daiger, S. P.; Chakraborty, R.; Reed, L.; Fekete, G.; Schuler, D.; Berenssi, G.; Nasz, I.; Brdicka, R.; Kamaryt, J.; Pijackova, A.; Moore, S.; Sullivan, S.; Woo, S. L. C.: Polymorphic DNA haplotypes at the phenylalanine hydroxylase (PAH) locus in European families with phenylketonuria (PKU). Am. J. Hum. Genet. 45: 310-318, 1989.
[0033042]23630.Gaedigk, R.; Duncan, A. M. V.; Miyazaki, I.; Robinson, B. H.; Dosch, H.-M.: ICA1 encoding p69, a protein linked to the development of type 1 diabetes, maps to human chromosome 7p22. Cytogenet. Cell Genet. 66: 274-276, 1994.
[0033043]23631.Gaedigk, R.; Karges, W.; Hui, M. F.; Scherer, S. W.; Dosch, H.-M. : Genomic organization and transcript analysis of ICAp69, a target antigen in diabetic autoimmunity. Genomics 38: 382-391, 1996.
[0033044]23632.Pietropaolo, M.; Castano, L.; Babu, S.; Buelow, R.; Kuo, Y.-L. S.; Martin, S.; Martin, A.; Powers, A. C.; Prochazka, M.; Naggert, J.; Leiter, E. H.; Eisenbarth, G. S.: Islet cell autoantigen 69 kD (ICA69): molecular cloning and characterization of a novel diabetes-associated autoantigen. J. Clin. Invest. 92: 359-371, 1993.
[0033045]23633.Diaz, M. O.; Le Beau, M. M.; Pitha, P.; Rowley, J. D.: Interferon and c-ets-1 genes in the translocation (9;11)(p22;q23) in human acute monocytic leukemia. Science 231: 265-267, 1986.
[0033046]23634.Ohlsson, M.; Feder, J.; Cavalli-Sforza, L. L.; von Gabain, A. : Close linkage of alpha and beta interferons and infrequent duplication of beta interferon in humans. Proc. Nat. Acad. Sci. 82: 4473-4476, 1985.
[0033047]23635.Owerbach, D.; Rutter, W. J.; Shows, T. B.; Gray, P.; Goeddel, D. V.; Lawn, R. M.: Leukocyte and fibroblast interferon genes are located on human chromosome 9. Proc. Nat. Acad. Sci. 78: 3123-3127, 1981.
[0033048]23636.Siegal, F. P.; Kadowaki, N.; Shodell, M.; Fitzgerald-Bocarsly, P. A.; Shah, K.; Ho, S.; Antonenko, S.; Liu, Y.-J.: The nature of the principal type 1 interferon-producing cells in human blood. Science 284: 1835-1837, 1999.
[0033049]23637.Heath, P.; Elvin, P.; Jenner, D.; Gammack, A.; Morten, J.; Markham, A.: Localisation of a cDNA clone for human cytokeratin 18 to chromosome 17p11-p12 by in situ hybridisation. Hum. Genet. 85: 669-670, 1990.
[0033050]23638.Ku, N.-O.; Michie, S.; Oshima, R. G.; Omary, M. B.: Chronic hepatitis, hepatocyte fragility, and increased soluble phosphoglycokeratins in transgenic mice expressing a keratin 18 conserved arginine mutant. J. Cell Biol. 131: 1303-1314, 1995.
[0033051]23639.Ku, N.-O.; Michie, S. A.; Soetikno, R. M.; Resurreccion, E. Z.; Broome, R. L.; Oshima, R. G.; Omary, M. B.: Susceptibility to hepatotoxicity in transgenic mice that express a dominantnegative human keratin 18 mutant. J. Clin. Invest. 98: 1034-1046, 1996.
[0033052]23640.Kulesh, D. A.; Oshima, R. G.: Complete structure of the gene for human keratin 18. Genomics 4: 339-347, 1989.
[0033053]23641.Lendahl, U.; Zimmerman, L. B.; McKay, R. D. G.: CNS stem cells express a new class of intermediate filament protein. Cell 60: 585-595, 1990.
[0033054]23642.Steinert, P. M.; Roop, D. R.: Molecular and cellular biology of intermediate filaments. Ann. Rev. Biochem. 57: 593-625, 1988.
[0033055]23643.Waseem, A.; Gough, A. C.; Spurr, N. K.; Lane, E. B.: Localization of the gene for human simple epithelial keratin 18 to chromosome 12 using polymerase chain reaction. Genomics 7: 188-194, 1990.
[0033056]23644.Erikson, J.; Griffin, C.; ar-Rushdi, A.; Valtieri, M.; Hoxie, J.; Finan, J.; Emanuel, B. S.; Rovera, G.; Nowell, P. C.; Croce, C. M.: Heterogeneity of chromosome 22 breakpoint in Philadelphiapositive (Ph+) acute lymphocytic leukemia. Proc. Nat. Acad. Sci. 83: 1807-1811, 1986.
[0033057]23645.Fioretos, T.; Heisterkamp, N.; Groffen, J.: No evidence for genomic imprinting of the human BCR gene. Blood 83: 3441-3444, 1994.
[0033058]23646.Fitzgerald, P. H.: Evidence that chromosome band 22q12 is concerned with cell proliferation in chronic myeloid leukemia. Hum. Genet. 33: 269-274, 1976.
[0033059]23647.Ganesan, T. S.; Rassool, F.; Guo, A.-P.; Th'ng, K. H.; Dowding, C.; Hibbin, J. A.; Young, B. D.; White, H.; Kumaran, T. O.; Galton, D. A. G.; Goldman, J. M.: Rearrangement of the bcr gene in Philadelphia chromosome-negative chronic myeloid leukemia. Blood 68: 957-960, 1986.
[0033060]23648.Goldman, J. M.; Melo, J. V.: Targeting the BCR-ABL tyrosine kinase in chronic myeloid leukemia. (Editorial) New Eng. J. Med. 344: 1084-1086, 2001.
[0033061]23649.Gorre, M. E.; Mohammed, M.; Ellwood, K.; Hsu, N.; Paquette, R.; Rao, P. N.; Sawyers, C. L.: Clinical resistance to STI-571 cancer therapy caused by BCR-ABL gene mutation or amplification. Science 293: 876-883, 2001.
[0033062]23650.Groffen, J.; Stephenson, J. R.; Heisterkamp, N.; de Klein, A.; Bartram, C. R.; Grosveld, G.: Philadelphia chromosomal breakpoints are clustered within a limited region, bcr, on chromosome 22. Cell 36: 93-99, 1984.
[0033063]23651.Grossman, A.; Silver, R. T.; Arlin, Z.; Coleman, M.; Camposano, E.; Gascon, P.; Benn, P. A.: Fine mapping of chromosome 22 breakpoints within the breakpoint cluster region (bcr) implies a role for bcr exon 3 in determining disease duration in chronic myeloid leukemia. Am. J. Hum. Genet. 45: 729-738, 1989.
[0033064]23652.Grosveld, G.; Verwoerd, T.; van Agthoven, T.; de Klein, A.; Ramachandran, K. L.; Heisterkamp, N.; Stam, K.; Groffen, J.: The chronic myelocytic cell line K562 contains a breakpoint in bcr and produces a chimeric bcr/c-abl transcript. Molec. Cell. Biol. 6: 607-616, 1986.
[0033065]23653.Haas, O. A.: Are ABL and BCR imprinted? No definitive answers, but more questions. Leukemia 9: 740-745, 1995.
[0033066]23654.Haas, O. A.; Argyriou-Tirita, A.; Lion, T.: Parental origin of chromosomes involved in the translocation t(9;22). Nature 359: 414-416, 1992.
[0033067]23655.Hariharan, I. K.; Adams, J. M.: cDNA sequence for human bcr, the gene that translocates to the abl oncogene in chronic myeloid leukaemia. EMBO J. 6: 115-119, 1987.
[0033068]23656.Heisterkamp, N.; Jenster, G.; ten Hoeve, J.; Zovich, D.; Pattengale, P. K.; Groffen, J.: Acute leukaemia in bcr/abl transgenic mice. Nature 344: 251-253, 1990.
[0033069]23657.Heisterkamp, N.; Stam, K.; Groffen, J.; de Klein, A.; Grosveld, G.: Structural organization of the bcr gene and its role in the Ph-1 translocation. Nature 315: 758-761, 1985.
[0033070]23658.Hermans, A.; Heisterkamp, N.; von Lindern, M.; van Baal, S.; Meijer, D.; van der Plas, D.; Wiedemann, L. M.; Groffen, J.; Bootsma, D.; Grosveld, G.: Unique fusion of bcr and c-abl genes in Philadelphia chromosome positive acute lymphoblastic leukemia. Cell 51: 33-40, 1987.
[0033071]23659.Huettner, C. S.; Zhang, P.; Van Etten, R. A.; Tenen, D. G.: Reversibility of acute B-cell leukaemia induced by BCR-ABL1. Nature Genet. 24: 57-60, 2000.
[0033072]23660.Jacobs, A.: Benzene and leukemia. Brit. J. Haemat. 72: 119-121, 1989.
[0033073]23661.Klein, G.: Specific chromosomal translocations and the genesis of the B-cell-derived tumors in mice and men. Cell 32: 311-315, 1983.
[0033074]23662.Koeffler, H. P.; Golde, D. W.: Chronic myelogenous leukemia--new concepts. New Eng. J. Med. 304: 1201-1209 and 1269-1274, 1981.
[0033075]23663.Kohno, S.-I.; Sandberg, A. A.: Chromosomes and causation of human cancer and leukemia. XXXIX. Usual and unusual findings in Ph(1)-positive CML. Cancer 46: 2227-2237, 1980.
[0033076]23664.Laurent, E.; Talpaz, M.; Kantarjian, H.; Kurzrock, R.: The BCR gene and Philadelphia chromosome-positive leukemogenesis. Cancer Res. 61: 2343-2355, 2001.
[0033077]23665.Lillicrap, D. A.; Sterndale, H.: Familial chronic myeloid leukaemia. (Letter) Lancet II: 699, 1984.
[0033078]23666.Lim, Y.-M.; Wong, S.; Lau, G.; Witte, O. N.; Colicelli, J.: BCR/ABL inhibition by an escort/phosphatase fusion protein. Proc. Nat. Acad. Sci. 97: 12233-12238, 2000.
[0033079]23667.Litz, C. E.; Copenhaver, C. M.: Paternal origin of the rearranged major breakpoint cluster region in chronic myeloid leukemia. Blood 83: 3445-3448, 1994.
[0033080]23668.Maru, Y.; Witte, O. N.: The BCR gene encodes a novel serine/threonine kinase activity within a single exon. Cell 67: 459-468, 1991.
[0033081]23669.Melo, J. V.; Yan, X.-H.; Diamond, J.; Goldman, J. M.: Lack of imprinting of the ABL gene. (Letter) Nature Genet. 8: 318-319, 1994.
[0033082]23670.Melo, J. V.; Yan, X.-H.; Diamond, J.; Goldman, J. M.: Balanced parental contribution to the ABL component of the BCR-ABL gene in chronic myeloid leukemia. Leukemia 9: 734-745, 1995.
[0033083]23671.Mes-Masson, A.-M.; McLaughlin, J.; Daley, G. Q.; Paskind, M.; Witte, O. N.: Overlapping cDNA clones define the complete coding region for the P210(c-abl) gene product associated with chronic myelogeneous leukemia cells containing the Philadelphia chromosome. Proc. Nat. Acad. Sci. 83: 9768-9772, 1986.
[0033084]23672.Mills, K. I.; MacKenzie, E. D.; Birnie, G. D.: The site of the breakpoint within the bcr is a prognostic factor in Philadelphia-positive CML patients. Blood 72: 1237-1241, 1988.
[0033085]23673.Mittelman, F.; Levan, G.: Clustering of aberrations to specific chromosomes in human neoplasms. III. Incidence and geographic distribution of chromosome aberrations in 856 cases. Hereditas 89: 207-232, 1978.
[0033086]23674.Nowell, P. C.; Hungerford, D. A.: A minute chromosome in human chronic granulocytic leukemia. Science 132: 1497, 1960.
[0033087]23675.Kusari, J.; Takata, Y.; Hatada, E.; Freidenberg, G.; Kolterman, O.; Olefsky, J. M.: Insulin resistance and diabetes due to different mutations in the tyrosine kinase domain of both insulin receptor gene alleles. J. Biol. Chem. 266: 5260-5267, 1991.
[0033088]23676.Lander, E. S.; Botstein, D.: Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 236: 1567-1570, 1987.
[0033089]23677.Sagane, K.; Ohya, Y.; Hasegawa, Y.; Tanaka, I.: Metalloproteinase-like, disintegrinlike, cysteine-rich proteins MDC2 and MDC3: novel human cellular disintegrins highly expressed in the brain. Biochem. J. 334: 93-98, 1998.
[0033090]23678.Splendore, A.; Passos-Bueno, M. R.; Jabs, E. W.; Van Maldergem, L.; Wulfsberg, E. A.: TCOF1 mutations excluded from a role in other first and second branchial arch-related disorders. (Letter) Am. J. Med. Genet. 111: 324-327, 2002.
[0033091]23679.Alsobrook, J. P., II; Zohar, A. H.; Leboyer, M.; Chabane, N.; Ebstein, R. P.; Pauls, D. L.: Association between the COMT locus and obsessive-compulsive disorder in females but not males. Am. J. Med. Genet. (Neuropsychiat. Genet.) 114: 116-120, 2002.
[0033092]23680.Karayiorgou, M.; Sobin, C.; Blundell, M. L.; Galke, B. L.; Malinova, L.; Goldberg, P.; Ott, J.; Gogos, J. A.: Family-based association studies support a sexually dimorphic effect of COMT and MAOA on genetic susceptibility to obsessive-compulsive disorder. Biol. Psychiat. 45: 1178-1189, 1999.
[0033093]23681.Taira, M.; Yoshida, T.; Miyagawa, K.; Sakamoto, H.; Terada, M.; Sugimura, T.: cDNA sequence of human transforming gene hst and identification of the coding sequence required for transforming activity. Proc. Nat. Acad. Sci. 84: 2980-2984, 1987.
[0033094]23682.Allikmets, R.; Shroyer, N. F.; Singh, N.; Seddon, J. M.; Lewis, R. A.; Bernstein, P. S.; Peiffer, A.; Zabriskie, N. A.; Hutchinson, A.; Dean, M.; Lupski, J. R.; Leppert, M.: Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science 277: 1805-1807, 1997.
[0033095]23683.De La Paz, M. A.; Guy, V. K.; Abou-Donia, S.; Heinis, R.; Bracken, B.; Vance, J. M.; Gilbert, J. R.; Gass, J. D. M.; Haines, J. L.; Pericak-Vance, M. A.: Analysis of the Stargardt disease gene (ABCR) in age-related macular degeneration. Ophthalmology 106: 1531-1536, 1999.
[0033096]23684.Farndon, J. R.; Leight, G. S.; Dilley, W. G.; Baylin, S. B.; Smallridge, R. C.; Harrison, T. S.; Wells, S. A., Jr.: Familial medullary thyroid carcinoma without associated endocrinopathies: a distinct clinical entity. Brit. J. Surg. 73: 278-281, 1986.
[0033097]23685.Taylor, M. D.; Liu, L.; Raffel, C.; Hui, C.; Mainprize, T. G.; Zhang, X.; Agatep, R.; Chiappa, S.; Gao, L.; Lowrance, A.; Hao, A.; Goldstein, A. M.; Stavrou, T.; Scherer, S. W.; Dura, W. T.; Wainwright, B.; Squire, J. A.; Rutka, J. T.; Hogg, D.: Mutations in SUFU predispose to medulloblastoma. Nature Genet. 31: 306-310, 2002.
[0033098]23686.Ball, E. W.; Meynell, M. J.; Beale, D.; Kynoch, P.; Lehmann, H.; Strelton, A. O. W.: Haemoglobin alpha(2) prime: alpha 2 gamma 2 (16 glycine to arginine). Nature 209: 1217-1218, 1966.
[0033099]23687.Barnabas, J.; Muller, C. J.: Haemoglobin Lepore (Hollandia). Nature 194: 931-932, 1962.
[0033100]23688.Beaven, G. H.; Gratzer, W. B.; Stevens, B. L.; Shooter, E. M.; Ellis, M. J.; White, J. C.; Gillespie, J. E. O.: An abnormal haemoglobin (Lepore-Cyprus) resembling haemoglobin Lepore and its interaction with thalassaemia. Brit. J. Haemat. 10: 159-170, 1964.
[0033101]23689.Brennan, S. O.; Williamson, D.; Smith, M. B.; Cauchi, M. N.; Macphee, A.; Carrell, R. W.: HbA(2) Victoria, delta24 (B6) gly-to-asp: a new delta chain variant occurring with beta-thalassemia. Hemoglobin 8: 163-168, 1984.
[0033102]23690.Camaschella, C.; Alfarano, A.; Gottardi, E.; Travi, M.; Primignani, P.; Cappio, F. C.; Saglio, G.: Prenatal diagnosis of fetal hemoglobin Lepore-Boston disease on maternal peripheral blood. Blood 75: 2102-2106, 1990.
[0033103]23691.Codrington, J. F.; Kutlar, F.; Harris, H. F.; Wilson, J. B.; Stoming, T. A.; Huisman, T. H. J.: Hb A(2)-Wrens or delta98(FG5)val-to-met, an unstable delta-chain variant identified by sequence analysis of amplified DNA. Biochim. Biophys. Acta 1009: 87-89, 1989.
[0033104]23692.Curtain, C. C.: A structural study of abnormal haemoglobins occurring in New Guinea. Aust. J. Exp. Biol. Med. Sci. 42: 89-97, 1964.
[0033105]23693.De Angioletti, M.; Di Girgenti, C.; Messineo, R.; Capra, M.; Carestia, C.: Hb A2-Monreale (delta-146 (HC3) his-to-arg), a novel delta chain variant detected in west Sicily. Hemoglobin 26: 1-5, 2002.
[0033106]23694.De Jong, W. W.; Went, L. N.: Hemoglobin A(2)-NYU in the Netherlands: incidence of delta-chain variants in human populations. Hum. Hered. 24: 32-39, 1974.
[0033107]23695.De Jong, W. W. W.; Bernini, L. F.: Haemoglobin Babinga (delta 136 glycine-aspartic acid): a new delta chain variant. Nature 219: 1360-1362, 1968.
[0033108]23696.Efremov, G. D.: Hemoglobins Lepore and anti-Lepore. Hemoglobin 2: 197-233, 1978.
[0033109]23697.McMichael, A.; Makgoba, W.: Complexity in human histocompatibility loci. Nature 293: 701-702, 1981.
[0033110]23698.Moen, T.; Albrechtsen, D.; Flatmark, A.; Jakobsen, A.; Jervell, J.; Halvorsen, S.; Solheim, B. G.; Thorsby, E.: Importance of HLA-DR matching in cadaveric renal transplantation: a prospective one-center study of 170 transplants. New Eng. J. Med. 303: 850-854, 1980.
[0033111]23699.Olerup, O.; Troye-Blomberg, M.; Schreuder, G. M. T.; Riley, E. M.: HLA-DR and -DQ gene polymorphism in West Africans is twice as extensive as in North European Caucasians: evolutionary implications. Proc. Nat. Acad. Sci. 88: 8480-8484, 1991.
[0033112]23700.Park, M. S.; Terasaki, P. I.; Bernoco, D.: Relationship between MT and DR antigens.In: Terasaki, P. I.: Histocompatibility Testing 1980. Los Angeles: UCLA Press (pub.) 1980.
[0033113]23701.Park, M. S.; Terasaki, P. I.; Bernoco, D.; Iwaki, Y.: Evidence for a second B-cell locus separate from the DR locus. Transplant. Proc. 10: 823-828, 1978.
[0033114]23702.Pisella, P.-J.; Brignole, F.; Debbasch, C.; Lozato, P.-A.; Creuzot-Garcher, C.; Bara, J.; Saiag, P.; Warnet, J.-M.; Baudouin, C.: Flow cytometric analysis of conjunctival epithelium in ocular rosacea and keratoconjunctivitis sicca. Ophthalmology 107: 1841-1849, 2000.
[0033115]23703.Rollini, P.; Mach, B.; Gorski, J.: Linkage map of three HLA-DR beta-chain genes: evidence for a recent duplication event. Proc. Nat. Acad. Sci. 82: 7197-7201, 1985.
[0033116]23704.Sachs, J. A.; Jaraquemada, D.; Festenstein, H.: Intra HLA-D region recombinant maps HLA-DR between HLA-B and HLA-D. Tissue Antigens 17: 43-56, 1981.
[0033117]23705.Schwartz, B. D.: Personal Communication. St. Louis, Mo. 2/22/1983.
[0033118]23706.Shackelford, D. A.; Mann, D. L.; van Rood, J. J.; Ferrara, G. B.; Strominger, J. L.: Human B-cell alloantigens DC1, MT1, and LB12 are identical to each other but distinct from the HLADR antigen. Proc. Nat. Acad. Sci. 78: 4566-4570, 1981.
[0033119]23707.Strominger, J. L.: Biology of the human histocompatibility leukocyte antigen (HLA) system and a hypothesis regarding the generation of autoimmune diseases. J. Clin. Invest. 77: 1411-1415, 1986.
[0033120]23708.Suciu-Foca, N.; Weiner, J.; Rohowsky, C.; McKiernan, P.; Susinno, E.; Rubinstein, P.: Indications that Dw determinants are controlled by distinct (but closely linked) genes. Transplant. Proc. 10: 799-804, 1978.
[0033121]23709.Thursz, M. R.; Thomas, H. C.; Greenwood, B. M.; Hill, A. V. S. : Heterozygote advantage for HLA class-II type in hepatitis B virus infection. (Letter) Nature Genet. 17: 11-12, 1997.
[0033122]23710.Tiercy, J.-M.; Gorski, J.; Jeannet, M.; Mach, B.: Identification and distribution of three serologically undetected alleles of HLA-DR by oligonucleotide-DNA typing analysis. Proc. Nat. Acad. Sci. 85: 198-202, 1988.
[0033123]23711.Tiwari, J. L.; Terasaki, P. I.: HLA and Disease Associations. New York: Springer-Verlag (pub.) 1985.
[0033124]23712.Trowsdale, J.: Genetics and polymorphism: class II antigens. Brit. Med. Bull. 43: 15-36, 1987.
[0033125]23713.Tsubota, K.; Fukagawa, K.; Fujihara, T.; Shimmura, S.; Saito, I.; Saito, K.; Takeuchi, T.: Regulation of human leukocyte antigen expression in human conjunctival epithelium. Invest. Ophthal. Vis. Sci. 40: 28-34, 1999.
[0033126]23714.Walker, L. E.; Hewick, R.; Hunkapiller, M. W.; Hood, L. E.; Dreyer, W. J.; Reisfeld, R. A.: N-terminal amino acid sequences of the alpha and beta chains of HLA-DR1 and HLA-DR2 antigens. Biochemistry 23: 185-188, 1983.
[0033127]23715.Spelbrink, J. N.; Li, F.-Y.; Tiranti, V.; Nikali, K.; Yuan, Q.-P.; Tariq, M.; Wanrooij, S.; Garrido, N.; Comi, G.; Morandi, L.; Santoro, L.; Toscano, A.; and 9 others: Human mitochondrial DNA deletions associated with mutations in the gene encoding twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nature Genet. 28: 223-231, 2001.
[0033128]23716.Farfel, Z.; Iiri, T.; Shapira, H.; Roitman, A.; Mouallem, M.; Bourne, H. R.: Pseudohypoparathyroidism, a novel mutation in the beta/gamma- contact region of Gs-alpha impairs receptor stimulation. J. Biol. Chem. 271: 19653-19655, 1996.
[0033129]23717.Heisler, L. K.; Cowley, M. A.; Tecott, L. H.; Fan, W.; Low, M. J.; Smart, J. L.; Rubinstein, M.; Tatro, J. B.; Marcus, J. N.; Holstege, H.; Lee, C. E.; Cone, R. D.; Elmquist, J. K.: Activation of central melanocortin pathways by fenfluramine. Science 297: 609-611, 2002.
[0033130]23718.Folster-Holst, R.; Moises, H. W.; Yang, L.; Fritsch, W.; Weissenbach, J.; Christophers, E.: Linkage between atopy and the IgE high-affinity receptor gene at 11q13 in atopic dermatitis families. Hum. Genet. 102: 236-239, 1998.
[0033131]23719.Hill, M. R.; Cookson, W. O. C. M.: A new variant of the beta subunit of the highaffinity receptor for immunoglobulin E (Fc-epsilon-RI-beta E237G): associations with measures of atopy and bronchial hyper-responsiveness. Hum. Molec. Genet. 5: 959-962, 1996.
[0033132]23720.Hupp, K.; Siwarski, D.; Mock, B. A.; Kinet, J.-P.: Gene mapping of the three subunits of the high affinity FcR for IgE to mouse chromosomes 1 and 19. J. Immun. 143: 3787-3791, 1989.
[0033133]23721.Kuster, H.; Zhang, L.; Brini, A. T.; MacGlashan, D. W. J.; Kinet, J.-P.: The gene and cDNA for the human high affinity immunoglobulin E receptor beta chain and expression of the complete human receptor. J. Biol. Chem. 267: 12782-12787, 1992.
[0033134]23722.Nagata, H.; Mutoh, H.; Kumahara, K.; Arimoto, Y.; Tomemori, T.; Sakurai, D.; Arase, K.; Ohno, K.; Yamakoshi, T.; Nakano, K.; Okawa, T.; Numata, T.; Konno, A.: Association between nasal allergy and a coding variant of the Fc-epsilon-RI-beta gene Glu237Gly in a Japanese population. Hum. Genet. 109: 262-266, 2001.
[0033135]23723.Shirakawa, T.; Li, A.; Dubowitz, M.; Dekker, J. W.; Shaw, A. E.; Faux, J. A.; Ra, C.; Cookson, W. O. C. M.; Hopkin, J. M.: Association between atopy and variants of the beta subunit of the high-affinity immunoglobulin E receptor. Nature Genet. 7: 125-130, 1994.
[0033136]23724.Shirakawa, T.; Mao, X.-Q.; Sasaki, S.; Enomoto, T.; Kawai, M.; Morimoto, K.; Hopkin, J.: Association between atopic asthma and a coding variant of Fc-epsilon-RI-beta in a Japanese population. Hum. Molec. Genet. 5: 1129-1130, 1996.
[0033137]23725.Szepetowski, P.; Gaudray, P.: FCER1B, a candidate gene for atopy, is located in 11q13 between CD20 and TCN1. Genomics 19: 399-400, 1994.
[0033138]23726.Allen, G.; Fantes, K. H.: A family of structural genes for human lymphoblastoid (leucocyte-type) interferon. Nature 287: 408-411, 1980.
[0033139]23727.Diaz, M. O.; Bohlander, S.; Allen, G.: Nomenclature of the human interferon genes. J. Interferon Cytokine Res. 16: 179-180, 1996.
[0033140]23728.Diaz, M. O.; Pomykala, H. M.; Bohlander, S. K.; Maltepe, E.; Malik, K.; Brownstein, B.; Olopade, O. I.: Structure of the human type-I interferon gene cluster determined from a YAC clone contig. Genomics 22: 540-552, 1994.
[0033141]23729.Douglas, R. M.; Moore, B. W.; Miles, H. B.; Davies, L. M.; Graham, N. M. H.; Ryan, P.; Worswick, D. A.; Albrecht, J. K.: Prophylactic efficacy of intranasal alpha-2-interferon against rhinovirus infections in the family setting. New Eng. J. Med. 314: 65-70, 1986.
[0033142]23730.Edge, M. D.; Green, A. R.; Heathcliffe, G. R.; Meacock, P. A.; Schuch, W.; Scanlon, D. B.; Atkinson, T. C.; Newton, C. R.; Markham, A. F.: Total synthesis of a human leukocyte interferon gene. Nature 292: 756-762, 1981.
[0033143]23731.Fountain, J. W.; Karayiorgou, M.; Taruscio, D.; Graw, S. L.; Buckler, A. J.; Ward, D. C.; Dracopoli, N. C.; Housman, D. E.: Genetic and physical map of the interferon region on chromosome 9p. Genomics 14: 105-112, 1992.
[0033144]23732.Gillespie, D.; Carter, W.: Concerted evolution of human interferon alpha genes. J. Interferon Res. 3: 83-88, 1983.
[0033145]23733.Hayden, F. G.; Albrecht, J. K.; Kaiser, D. L.; Gwaltney, J. M., Jr.: Prevention of natural colds by contact prophylaxis with intranasal alpha-2-interferon. New Eng. J. Med. 314: 71-75, 1986.
[0033146]23734.Hitzeman, R. A.; Hagie, F. E.; Levine, H. L.; Goeddel, D. V.; Ammerer, G.; Hall, B. D.: Expression of a human gene for interferon in yeast. Nature 293: 717-722, 1981.
[0033147]23735.Imai, M.; Sano, T.; Yanase, Y.; Miyamoto, K.; Yonehara, S.; Mori, H.; Honda, T.; Fukuda, S.; Nakamura, T.; Miyakawa, Y.; Mayumi, M. : Demonstration of two subtypes of human leukocyte interferon (IFN-alpha) by monoclonal antibodies. J. Immun. 128: 2824-2825, 1982.
[0033148]23736.Isaacs, D.; Clarke, J. R.; Tyrrell, D. A. J.; Webster, A. D. B.; Valman, H. B.: Deficient production of leucocyte interferon (interferon-alpha) in vitro and in vivo in children with recurrent respiratory tract infections. Lancet II: 950-952, 1981.
[0033149]23737.Lawn, R. M.; Adelman, J.; Dull, T. J.; Gross, M.; Goeddel, D.; Ullrich, A.: DNA sequence of two closely linked human leukocyte interferon genes. Science 212: 1159-1162, 1981.
[0033150]23738.Lawn, R. M.; Goeddel, D. V.; Ullrich, A.: The human interferon gene family.(Abstract) Sixth Int. Cong. Hum. Genet., Jerusalem 55 only, 1981.
[0033151]23739.Miyata, T.; Hayashida, H.: Recent divergence from a common ancestor of human IFNalpha genes. Nature 295: 165-168, 1982.
[0033152]23740.Mory, Y.; Chernajovsky, Y.; Feinstein, S. I.; Chen, L.; Weissenbach, J.; Revel, M.: Expression of the cloned human interferon beta-1 gene in E. coli.(Abstract) Sixth Int. Cong. Hum. Genet., Jerusalem 56 only, 1981.
[0033153]23741.Reis, A.: Personal Communication. Berlin, Germany 3/28/1994.
[0033154]23742.Blanchet-Bardon, C.; Nazzaro, V.; Chevrant-Breton, J.; Espie, M.; Kerbrat, P.; Le Marec, B.: Hereditary epidermolytic palmoplantar keratoderma associated with breast and ovarian cancer in a large kindred. Brit. J. Derm. 117: 363-370, 1987.
[0033155]23743.Appel, S.; Filter, M.; Reis, A.; Hennies, H. C.; Bergheim, A.; Ogilvie, E.; Arndt, S.; Simmons, A.; Lovett, M.; Hide, W.; Ramsay, M.; Reichwald, K.; Zimmermann, W.; Rosenthal, A.: Physical and transcriptional map of the critical region for keratolytic winter erythema (KWE) on chromosome 8p22-p23 between D8S550 and D8S1759. Europ. J. Hum. Genet. 10: 17-25, 2002.
[0033156]23744.Clarke, C. A.; McConnell, R. B.: Six cases of carcinoma of the oesophagus occurring in one family. Brit. Med. J. 2: 1137-1138, 1954.
[0033157]23745.Ellis, A.; Field, J. K.; Field, E. A.; Friedmann, P. S.; Fryer, A.; Howard, P.; Leigh, I. M.; Risk, J.; Shaw, J. M.; Whittaker, J. : Tylosis associated with carcinoma of the oesophagus and oral leukoplakia in a large Liverpool family--a review of six generations. Europ. J. Cancer 30B: 102-112, 1994.
[0033158]23746.Harper, P. S.; Harper, R. M. J.; Howel-Evans, A. W.: Carcinoma of the oesophagus with tylosis. Quart. J. Med. 39: 317-333, 1970.
[0033159]23747.Olavarria, E.; Craddock, C.; Dazzi, F.; Marin, D.; Marktel, S.; Apperley, J. F.; Goldman, J. M.: Imatinib mesylate (STI571) in the treatment of relapse of chronic myeloid leukemia after allogeneic stem cell transplantation. Blood 99: 3861-3862, 2002.
[0033160]23748.Pegoraro, L.; Matera, L.; Ritz, J.; Levis, A.; Palumbo, A.; Biagini, G.: Establishment of a Ph(1)-positive human cell line (BV173). J. Nat. Cancer Inst. 70: 447-451, 1983.
[0033161]23749.Perrotti, D.; Cesi, V.; Trotta, R.; Guerzoni, C.; Santilli, G.; Campbell, K.; Iervolino, A.; Condorelli, F.; Gambacorti-Passerini, C.; Caligiuri, M. A.; Calabretta, B.: BCR-ABL suppresses C/EBPalpha expression through inhibitory action of hnRNP E2. Nature Genet. 30: 48-58, 2002.
[0033162]23750.Prakash, O.; Yunis, J. J.: High resolution chromosomes of the t(9;22) positive leukemias. Cancer Genet. Cytogenet. 11: 361-367, 1984.
[0033163]23751.Priest, J. R.; Robison, L. L.; McKenna, R. W.; Lindquist, L. L.; Warkentin, P. I.; LeBien, T. W.; Woods, W. G.; Kersey, J. H.; Coccia, P. F.; Nesbit, M. E., Jr.: Philadelphia chromosome positive childhood acute lymphoblastic leukemia. Blood 56: 15-22, 1980.
[0033164]23752.Rowley, J. D.: A new consistent chromosomal abnormality in chronic myelogenous leukemia identified by quinacrine fluorescence and Giemsa staining. Nature 243: 290-293, 1973.
[0033165]23753.Rubin, C. M.; Carrino, J. J.; Dickler, M. N.; Leibowitz, D.; Smith, S. D.; Westbrook, C. A.: Heterogeneity of genomic fusion of BCR and ABL in Philadelphia chromosome-positive acute lymphoblastic leukemia. Proc. Nat. Acad. Sci. 85: 2795-2799, 1988.
[0033166]23754.Saglio, G.; Storlazzi, C. T.; Giugliano, E.; Surace, C.; Anelli, L.; Rege-Cambrin, G.; Zagaria, A.; Velasco, A. J.; Heiniger, A.; Scaravaglio, P.; Gomez, A. T.; Gomez, J. R.; Archidiacono, N.; Banfi, S.; Rocchi, M.: A 76-kb duplicon maps close to the BCR gene on chromosome 22 and the ABL gene on chromosome 9: possible involvement in the genesis of the Philadelphia chromosome translocation. Proc. Nat. Acad. Sci. 99: 9882-9887, 2002.
[0033167]23755.Savage, D. G.; Antman, K. H.: Imatinib mesylate--a new oral targeted therapy. New Eng. J. Med. 346: 683-693, 2002.
[0033168]23756.Sawyers, C. L.: Chronic myeloid leukemia. New Eng. J. Med. 340: 1330-1340, 1999.
[0033169]23757.Schaefer-Rego, K.; Dudek, H.; Popenoe, D.; Arlin, Z.; Mears, J. G.; Bank, A.; Leibowitz, D.: CML patients in blast crisis have breakpoints localized to a specific region of the BCR. Blood 70: 448-455, 1987.
[0033170]23758.Shtivelman, E.; Gale, R. P.; Dreazen, O.; Berrebi, A.; Zaizov, R.; Kubonishi, I.; Miyoshi, I.; Canaani, E.: bcr-abl RNA in patients with chronic myelogenous leukemia. Blood 69: 971-973, 1987.
[0033171]23759.Shtivelman, E.; Lifshitz, B.; Gale, R. P.; Canaani, E.: Fused transcript of abl and bcr genes in chronic myelogenous leukaemia. Nature 315: 550-554, 1985.
[0033172]23760.Skorski, T.; Nieborowska-Skorska, M.; Nicolaides, N. C.; Szczylik, C.; Iversen, P.; Iozzo, R. V.; Zon, G.; Calabretta, B.: Suppression of Philadelphia-1 leukemia cell growth in mice by BCR-ABL antisense oligodeoxynucleotide. Proc. Nat. Acad. Sci. 91: 4504-4508, 1994.
[0033173]23761.Stam, K.; Heisterkamp, N.; Grosveld, G.; de Klein, A.; Verma, R. S.; Coleman, M.; Dosik, H.; Groffen, J.: Evidence of a new chimeric bcr/c-abl mRNA in patients with chronic myelocytic leukemia and the Philadelphia chromosome. New Eng. J. Med. 313: 1429-1433, 1985.
[0033174]23762.Stam, K.; Heisterkamp, N.; Reynolds, F. H., Jr.; Groffen, J.: Evidence that the phl gene encodes a 160,000-dalton phosphoprotein with associated kinase activity. Molec. Cell. Biol. 7: 1955-1960, 1987.
[0033175]23763.Swan, D. C.; McBride, O. W.; Robbins, K. C.; Keithley, D. A.; Reddy, E. P.; Aaronson, S. A.: Chromosomal mapping of the simian sarcoma virus onc gene analogue in human cells. Proc. Nat. Acad. Sci. 79: 4691-4695, 1982.
[0033176]23764.Tanabe, T.; Kuwabara, T.; Warashina, M.; Tani, K.; Taira, K.; Asano, S.: Oncogene inactivation in a mouse model: tissue invasion by leukaemic cells is stalled by loading them with a designer ribozyme. Nature 406: 473-474, 2000.
[0033177]23765.Teyssier, J. R.; Bartram, C. R.; Deville, J.; Potron, G.; Pigeon, F.: C-abl oncogene and chromosome 22 'bcr' juxtaposition in chronic myelogenous leukemia. New Eng. J. Med. 312: 1393-1394, 1985.
[0033178]23766.Tkachuk, D. C.; Westbrook, C. A.; Andreeff, M.; Donlon, T. A.; Cleary, M. L.; Suryanarayan, K.; Homge, M.; Redner, A.; Gray, J.; Pinkel, D.: Detection of bcr-abl fusion in chronic myelogeneous leukemia by in situ hybridization. Science 250: 559-562, 1990.
[0033179]23767.Verhest, A.; Monsieur, R.: Philadelphia chromosome-positive thrombocythemia with leukemic transformation. (Letter) New Eng. J. Med. 308: 1603, 1983.
[0033180]23768.Verma, R. S.; Dosik, H.: Heteromorphisms of the Philadelphia (Ph-1) chromosome in patients with chronic myelogenous leukaemia (CML). I. Classification and clinical significance. Brit. J. Haemat. 45: 215-222, 1980.
[0033181]23769.Aisenberg, A. C.; Wilkes, B. M.; Jacobson, J. O.: The bcl-2 gene is rearranged in many diffuse B-cell lymphomas. Blood 71: 969-972, 1988.
[0033182]23770.Bakhshi, A.; Jensen, J. P.; Goldman, P.; Wright, J. J.; McBride, O. W.; Epstein, A. L.; Korsmeyer, S. J.: Cloning the chromosomal breakpoint of t(14;18) human lymphomas: clustering around J(H) on chromosome 14 and near a transcriptional unit on 18. Cell 41: 899-906, 1985.
[0033183]23771.Bakhshi, A.; Wright, J. J.; Graninger, W.; Seto, M.; Owens, J.; Cossman, J.; Jensen, J. P.; Goldman, P.; Korsmeyer, S. J.: Mechanism of the t(14;18) chromosomal translocation: structural analysis of both derivative 14 and 18 reciprocal partners. Proc. Nat. Acad. Sci. 84: 2396-2400, 1987.
[0033184]23772.Chen, J.; Flannery, J. G.; LaVail, M. M.; Steinberg, R. H.; Xu, J.; Simon, M. I.: Bcl-2 overexpression reduces apoptotic photoreceptor cell death in three different retinal degenerations. Proc. Nat. Acad. Sci. 93: 7042-7047, 1996.
[0033185]23773.Cleary, M. L.; Sklar, J.: Nucleotide sequence of a t(14;18) chromosomal breakpoint in follicular lymphoma and demonstration of a breakpoint-cluster region near a transcriptionally active locus on chromosome 18. Proc. Nat. Acad. Sci. 82: 7439-7443, 1985.
[0033186]23774.Cleary, M. L.; Smith, S. D.; Sklar, J.: Cloning and structural analysis of cDNAs for bcl-2 and a hybrid bcl-2/immunoglobulin transcript resulting from the t(14;18) translocation. Cell 47: 19-28, 1986.
[0033187]23775.Cockerham, G. C.; Hidayat, A. A.; Bijwaard, K. E.; Sheng, Z.-M. : Re-evaluation of 'reactive lymphoid hyperplasia of the uvea': an immunohistochemical and molecular analysis of 10 cases. Ophthalmology 107: 151-158, 2000.
[0033188]23776.Croce, C. M.: Personal Communication. Philadelphia, Pa. 1989.
[0033189]23777.Efremov, G. D.; Rudivic, R.; Niazi, G. A.; Hunter, E., Jr.; Huisman, T. H. J.; Schroeder, W. A.: An individual with Hb-Lepore-Baltimore-delta beta-thalassaemia in a Yugoslavian family. Scand. J. Haemat. 16: 81-89, 1976.
[0033190]23778.Fessas, P.; Stamatoyannopoulos, G.; Karaklis, A.: Hemoglobin 'Pylos': study of a hemoglobinopathy resembling thalassemia in the heterozygous, homozygous and double heterozygous state. Blood 19: 1-22, 1962.
[0033191]23779.Fioretti, G.; De Angioletti, M.; Masciangelo, F.; Lacerra, G.; Scarallo, A.; de Bonis, C.; Pagano, L.; Guarino, E.; De Rosa, L.; Salvati, F.; Carestia, C.: Origin heterogeneity of Hb Lepore-Boston gene in Italy. Am. J. Hum. Genet. 50: 781-786, 1992.
[0033192]23780.Fujita, S.; Ohta, Y.; Saito, S.; Kobayashi, Y.; Naritomi, Y.; Kawaguchi, T.; Imamura, T.; Wada, Y.; Hayashi, A.: Hemoglobin A(2) Honai (delta90(F6) glu-to-val): a new delta chain variant. Hemoglobin 9: 597-607, 1985.
[0033193]23781.Galanello, R.; Gasperini, D.; Perseu, L.; Barella, S.; Ideo, A.; Cao, A.: Hb A(2)-Sant' Antioco (delta93(F9) cys-to-gly): a new delta chain variant identified by sequencing of amplified DNA. Hemoglobin 18: 437-439, 1994.
[0033194]23782.Gasperini, D.; Perseu, L.; Cossu, P.; Podda, R.; Cao, A.; Galanello, R.: A novel delta-0-thalassemia mutation: TGG-to-TAG (trp-to-stop) at codon 37. Hum. Mutat. 3: 71-72, 1994.
[0033195]23783.Gerald, P. S.; Diamond, L. K.: A new hereditary hemoglobinopathy (the Lepore trait) and its interaction with thalassemia trait. Blood 12: 835-844, 1958.
[0033196]23784.Harano, T.; Harano, K.; Kushida, Y.; Ueda, S.; Kawakami, H.: Hb A(2)-Niigata [delta-1(NA1)val-to-ala]: a new delta chain variant found in the Japanese population. Hemoglobin 15: 335-339, 1991.
[0033197]23785.Horton, B.; Payne, R. A.; Bridges, M. T.; Huisman, T. H. J.: Studies on an abnormal minor hemoglobin component Hb-beta(2). Clin. Chim. Acta 6: 246-253, 1961.
[0033198]23786.Huehns, E. R.: A third haemoglobin abnormality in two individuals with Hb-H disease.In: Lehmann, H.; Betke, K.: Haemoglobin-Colloquium. Stuttgart: Georg Thieme Verlag (pub.) 1962. Pp. 76 only.
[0033199]23787.Huehns, E. R.; Dance, N.; Beaven, G. H.; Stevens, B. L.: Further investigations in haemoglobin H disease. (Abstract) Proc. 9th Cong. Int. Soc. Hemat., Mexico City 7-9, 1962.
[0033200]23788.Huisman, T. H. J.; Sydenstricker, V. P.: Haemoglobin: difference in gross structure of two electrophoretically identical minor haemoglobin components. Nature 193: 489-491, 1962.
[0033201]23789.Jeffreys, A. J.: DNA sequence variants in the G-gamma, A-gamma, delta and beta globin genes of man. Cell 18: 1-10, 1979.
[0033202]23790.Jones, R. T.; Brimhall, B.; Huehns, E. R.; Barnicot, N. A.: Hemoglobin Sphakia: a delta-chain variant of hemoglobin A2 from Crete. Science 151: 1406-1408, 1966.
[0033203]23791.Jones, R. T.; Brimhall, B.; Huisman, T. H. J.: Structural characterization of two delta chain variants: hemoglobin A-prime-2 (B2) and hemoglobin Flatbush. J. Biol. Chem. 242: 5141-5145, 1967.
[0033204]23792.Juricic, D.; Crepinko, I.; Efremov, G. D.; Lam, H.; Webber, B. B.; Headlee, M. G.; Huisman, T. H. J.: Hb A(2)-Zagreb or delta125(H3)gln-to-glu, a new delta chain variant in association with delta-beta-thalassemia. Hemoglobin 7: 443-448, 1983.
[0033205]23793.Klein, H. L.; Petes, T. D.: Intrachromosomal gene conversion in yeast. Nature 289: 144-148, 1981.
[0033206]23794.Labie, D.; Schroeder, W. A.; Huisman, T. H. J.: The amino acid sequence of the deltabeta chains of haemoglobin Lepore Augusta = Lepore Washington. Biochim. Biophys. Acta 127: 428-437, 1966.
[0033207]23795.Lanclos, K. D.; Patterson, J.; Efremov, G. D.; Wong, S. C.; Villegas, A.; Ojwang, P. J.; Wilson, J. B.; Kutlar, F.; Huisman, T. H. J.: Characterization of chromosomes with hybrid genes for Hb Lepore-Washington, Hb Lepore-Baltimore, Hb P-Nilotic, and Hb Kenya. Hum. Genet. 77: 40-45, 1987.
[0033208]23796.Lee, R. C.; Huisman, T. H. J.: A variant of hemoglobin A-2 found in a Negro family. Blood 24: 495-501, 1964.
[0033209]23797.Lehmann, H.; Jenkins, T.; Plowman, D.; Nurse, G. T.: Homozygosity for the deltachain variant haemoglobin A(2)-prime (HbB-2) (delta16 gly-to-arg). Hemoglobin 9: 363-372, 1985.
[0033210]23798.Leung, H.; Gilbert, A. T.; Fleming, P. J.; Wong, J.; Hughes, W. G.; Hussein, S.; Nash, A. R.: Hb A(2)-Parkville or delta47(CD6) asp-to-val, a new delta chain variant. Hemoglobin 15: 407-416, 1991.
[0033211]23799.Lie-Injo, L. E.; Pribadi, W.; Westendorp-Boerma, F.; Efremov, G. D.; Wilson, J. B.; Reynolds, C. A.; Huisman, T. H. J.: Hemoglobin A(2)-Indonesia or alpha(2) beta(2) 69(E13)gly to arg. Biochim. Biophys. Acta 229: 335-342, 1971.
[0033212]23800.Losekoot, M.; Fodde, R.; Giordano, P. C.; Bernini, L. F.: A novel delta-0-thalassemia arising from a frameshift insertion, detected by direct sequencing of enzymatically amplified DNA. Hum. Genet. 83: 75-78, 1989.
[0033213]23801.Loudianos, G.; Cao, A.; Pirastu, M.; Vassilopoulos, G.; Kollia, P.; Loukopoulos, D.: Molecular basis of the delta thalassemia in cis to hemoglobin Knossos variant. (Letter) Blood 77: 2087-2088, 1991.
[0033214]23802.Loudianos, G.; Murru, S.; Kanavakis, E.; Metaxotou-Mavromati, A.; Theodoropoulou, D.; Kattamis, C.; Cao, A.; Pirastu, M.: A new delta chain variant hemoglobin A(2)-Corfu or alpha(2)delta(2) 116 arg-to-cys (G18), detected by delta-globin gene analysis in a Greek family. Hum. Genet. 87: 237-238, 1991.
[0033215]23803.Loudianos, G.; Murru, S.; Ristaldi, M. S.; Cossu, P.; Pilia, G.; Porcu, S.; Sciarratta, G. V.; Parodi, M. I.; Cao, A.; Pirastu, M. : A novel delta-thalassemia mutation: a G-to-C substitution at codon 30 of the delta-globin gene in a person of southern Italian origin. Hum. Mutat. 1: 169-171, 1992.
[0033216]23804.Loudianos, G.; Porcu, S.; Cossu, P.; Tannoia, N.; Vitucci, A.; Campanale, D.; Cao, A.; Pirastu, M.: A new delta-chain variant hemoglobin A(2)-Puglia or delta26 glu-to-asp (B8), detected by DNA analysis in a family of southern Italian extraction. Hum. Mutat. 2: 327-329, 1993.
[0033217]23805.Martin, S. L.; Zimmer, E. A.; Kan, Y. W.; Wilson, A. C.: Silent delta-globin gene in Old World monkeys. Proc. Nat. Acad. Sci. 77: 3563-3566, 1980.
[0033218]23806.Matsuda, M.; Sakamoto, N.; Fukumaki, Y.: Delta-thalassemia caused by disruption of the site for an erythroid-specific transcription factor, GATA-1, in the delta-globin gene promoter. Blood 80: 1347-1351, 1992.
[0033219]23807.Moi, P.; Loudianos, G.; Lavinha, J.; Murru, S.; Cossu, P.; Casu, R.; Oggiano, L.; Longinotti, M.; Cao, A.; Pirastu, M.: Delta-thalassemia due to a mutation in an erythroid-specific binding protein sequence 3-prime to the delta-globin gene. Blood 79: 512-516, 1992.
[0033220]23808.Moi, P.; Paglietti, E.; Sanna, A.; Brancati, C.; Tagarelli, A.; Galanello, R.; Cao, A.; Pirastu, M.: Delineation of the molecular basis of delta- and normal HbA2 beta-thalassemia. Blood 72: 530-533, 1988.
[0033221]23809.Guida, P. M.; Todd, J. E.; Moore, S. W.; Beal, J. M.: Zollinger-Ellison syndrome with interesting variations: report of twelve cases including one of carcinoid of the duodenum. Am. J. Surg. 112: 807-817, 1966.
[0033222]23810.Guo, S.S.; Sawicki, M. P.: Molecular and genetic mechanisms of tumorigenesis in multiple endocrine neoplasia type-1. Molec. Endocr. 15: 1653-1664, 2001.
[0033223]23811.Guru, S. C.; Agarwal, S. K.; Manickam, P.; Olufemi, S.-E.; Crabtree, J. S.; Weisemann, J. M.; Kester, M. B.; Kim, Y. S.; Wang, Y.; Emmert-Buck, M. R.; Liotta, L. A.; Spiegel, A. M.; Boguski, M. S.; Roe, B. A.; Collins, F. S.; Marx, S. J.; Burns, L.; Chandrasekharappa, S. C.: A transcript map for the 2.8-Mb region containing the multiple endocrine neoplasia type 1 locus. Genome Res. 7: 725-735, 1997.
[0033224]23812.Guru, S. C.; Crabtree, J. S.; Brown, K. D.; Dunn, K. J.; Manickam, P.; Prasad, N. B.; Wangsa, D.; Burns, A. L.; Spiegel, A. M.; Marx, S. J.; Pavan, W. J.; Collins, F. S.; Chandrasekharappa, S. C.: Isolation, genomic organization, and expression analysis of Men1, the murine homolog of the MEN1 gene. Mammalian Genome 10: 592-596, 1999.
[0033225]23813.Guru, S. C.; Goldsmith, P. K.; Burns, A. L.; Marx, S. J.; Spiegel, A. M.; Collins, F. S.; Chandrasekharappa, S. C.: Menin, the product of the MEN1 gene, is a nuclear protein. Proc. Nat. Acad. Sci. 95: 1630-1634, 1998.
[0033226]23814.Heppner, C.; Kester, M. B.; Agarwal, S. K.; Debelenko, L. V.; Emmert-Buck, M. R.; Guru, S. C.; Manickam, P.; Olufemi, S.-E.; Skarulis, M. C.; Doppman, J. L.; Alexander, R. H.; Kim, Y. S.; Saggar, S. K.; Lubensky, I. A.; Zhuang, Z.; Liotta, L. A.; Chandrasekharappa, S. C.; Collins, F. S.; Spiegel, A. M.; Burns, A. L.; Marx, S. J.: Somatic mutation of the MEN1 gene in parathyroid tumours. Nature Genet. 16: 375-378, 1997.
[0033227]23815.Heppner, C.; Reincke, M.; Agarwal, S. K.; Mora, P.; Allolio, B.; Burns, A. L.; Spiegel, A. M.; Marx, S. J.: MEN1 gene analysis in sporadic adrenocortical neoplasms. J. Clin. Endocr. Metab. 84: 216-219, 1999.
[0033228]23816.Hershon, K. S.; Kelly, W. A.; Shaw, C. M.; Schwartz, R.; Bierman, E. L.: Prolactinomas as part of the multiple endocrine neoplastic syndrome type 1. Am. J. Med. 74: 713-720, 1983.
[0033229]23817.Hessman, O.; Skogseid, B.; Westin, G.; Akerstrom, G.: Multiple allelic deletions and intratumoral genetic heterogeneity in MEN1 pancreatic tumors. J. Clin. Endocr. Metab. 86: 1355-1361, 2001.
[0033230]23818.Johnson, G. J.; Summerskill, W. H. J.; Anderson, V. E.; Keating, F. R.: Clinical and genetic investigation of a large kindred with multiple endocrine adenomatosis. New Eng. J. Med. 277: 1379-1385, 1967.
[0033231]23819.Jones, B. S.; O'Hagan, J. J.; Phear, D. N.; Sheville, E.: A case of the Zollinger-Ellison syndrome associated with hyperplasia of salivary and Brunner's glands. Gut 11: 837-839, 1970.
[0033232]23820.Kaji, H.; Canaff, L.; Lebrun, J.-J.; Goltzman, D.; Hendy, G. N. : Inactivation of menin, a Smad3-interacting protein, blocks transforming growth factor type beta signaling. Proc. Nat. Acad. Sci. 98: 3837-3842, 2001.
[0033233]23821.Kjellman, M.; Roshani, L.; Teh, B. T.; Kallioniemi, O.-P.; Hoog, A.; Gray, S.; Farnebo, L.-O.; Holst, M.; Backdahl, M.; Larsson, C. : Genotyping of adrenocortical tumors: very frequent deletions of the MEN1 locus in 11q13 and of a 1-centimorgan region in 2p16. J. Clin. Endocr. Metab. 84: 730-735, 1999.
[0033234]23822.Lamers, C. B. H. W.; Froeling, P. G. A. M.: Clinical significance of hyperparathyroidism in familial multiple endocrine adenomatosis. Am. J. Med. 66: 422-424, 1979.
[0033235]23823.Lamers, C. B. H. W.; Stadil, F.; van Tongeren, J. H.: Prevalence of endocrine abnormalities in patients with the Zollinger-Ellison syndrome in their families. Am. J. Med. 64: 607-612, 1978.
[0033236]23824.Larsson, C.; Shepherd, J.; Nakamura, Y.; Blomberg, C.; Weber, G.; Werelius, B.; Hayward, N.; Teh, B.; Tokino, T.; Seizinger, B.; Skogseid, B.; Oberg, K.; Nordenskjold, M.: Predictive testing for multiple endocrine neoplasia type 1 using DNA polymorphisms. J. Clin. Invest. 89: 1344-1349, 1992.
[0033237]23825.Larsson, C.; Skogseid, B.; Oberg, K.; Nakamura, Y.; Nordenskjold, M.: Multiple endocrine neoplasia type 1 gene maps to chromosome 11 and is lost in insulinoma. Nature 332: 85-87, 1988.
[0033238]23826.Larsson, C.; Skogseid, B.; Oberg, K.; Nordenskjold, M.: Linkage of multiple endocrine neoplasia type 1 (MEN1) to markers at 11q13. (Abstract) Cytogenet. Cell Genet. 51: 1029, 1989.
[0033239]23827.Lemmens, I.; Van de Ven, W. J. M.; Kas, K.; Zhang, C. X.; Giraud, S.; Wautot, V.; Buisson, N.; De Witte, K.; Salandre, J.; Lenoir, G.; Pugeat, M.; Calender, A.; and 19 others: Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. Hum. Molec. Genet. 6: 1177-1183, 1997.
[0033240]23828.Long, T. T.; Barton, T. K.; Draffin, R.; Reeves, W. J.; McCarty, K. S., Jr.: Conservative management of the Zollinger-Ellison syndrome: ectopic gastrin production by an ovarian cystadenoma. J.A.M.A. 243: 1837-1839, 1980.
[0033241]23829.Lulu, D. J.; Corcoran, T. E.; Andre, M.: Familial endocrine adenomatosis with associated Zollinger-Ellison syndrome: Wermer's syndrome. Am. J. Surg. 115: 695-701, 1968.
[0033242]23830.Mallette, L. E.; Bilezikian, J. P.; Ketcham, A. S.; Aurbach, G. D.: Parathyroid carcinoma in familial hyperparathyroidism. Am. J. Med. 57: 642-648, 1974.
[0033243]23831.Maton, P. N.; Gardner, J. D.; Jensen, R. T.: Cushing's syndrome in patients with the Zollinger-Ellison syndrome. New Eng. J. Med. 315: 1-5, 1986.
[0033244]23832.McCarthy, D. M.: Zollinger-Ellison syndrome. Ann. Rev. Med. 33: 197-215, 1982.
[0033245]23833.McCarthy, D. M.; Olinger, E. J.; May, R. J.; Long, B. W.; Gardner, J. D.: H2-histamine receptor blocking agents in the Zollinger-Ellison syndrome: experience in seven cases and implications for long-term therapy. Ann. Intern. Med. 87: 668-675, 1977.
[0033246]23834.Mee, A. S.; Ismail, S.; Bornman, P. C.; Marks, I. N.: Changing concepts in the presentation, diagnosis and management of the Zollinger-Ellison syndrome. Quart. J. Med. 206: 256-267, 1983.
[0033247]23835.Nakamura, Y.; Larsson, C.; Julier, C.; Bystrom, C.; Skogseid, B.; Wells, S.; Oberg, K.; Carlson, M.; Taggart, T.; O'Connell, P.; Leppert, M.; Lalouel, J.-M.; Nordenskjold, M.; White, R.: Localization of the genetic defect in multiple endocrine neoplasia type I within a small region of chromosome 11. Am. J. Hum. Genet. 44: 751-755, 1989.
[0033248]23836.Nordenskjold, M.; Jones, C. A.; Glaser, T.; Werelius, B.; Larsson, C.; Jansson, M.: Mapping of chromosome 11q probes on somatic cell hybrids. (Abstract) Cytogenet. Cell Genet. 51: 1054, 1989.
[0033249]23837.Basson, C. T.; Bachinsky, D. R.; Lin, R. C.; Levi, T.; Elkins, J. A.; Soults, J.; Grayzel, D.; Kroumpouzou, E.; Traill, T. A.; Leblanc-Straceski, J.; Renault, B.; Kucherlapati, R.; Seidman, J. G.; Seidman, C. E. : Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome. Nature Genet. 15: 30-35, 1997.
[0033250]23838.Basson, C. T.; Huang, T.; Lin, R. C.; Bachinsky, D. R.; Weremowicz, S.; Vaglio, A.; Bruzzone, R.; Quadrelli, R.; Lerone, M.; Romeo, G.; Silengo, M.; Pereira, A.; Krieger, J.; Mesquita, S. F.; Kamisago, M.; Morton, C. C.; Pierpont, M. E. M.; Muller, C. W.; Seidman, J. G.; Seidman, C. E.: Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations. Proc. Nat. Acad. Sci. 96: 2919-2924, 1999.
[0033251]23839.Glenn, C. L.; Wang, W. Y. S.; Benjafield, A. V.; Morris, B. J. : Linkage and association of tumor necrosis factor receptor 2 locus with hypertension, hypercholesterolemia and plasma shed receptor. Hum. Molec. Genet. 9: 1943-1949, 2000.
[0033252]23840.Jones, C.: Synteny between the Pro(plus) marker and human glutamate oxaloacetate transaminase. Somat. Cell Genet. 1: 345-354, 1975.
[0033253]23841.Lasky, L. A.; Singer, M. S.; Dowbenko, D.; Imai, Y.; Henzel, W. J.; Grimley, C.; Fennie, C.; Gillett, N.; Watson, S. R.; Rosen, S. D.: An endothelial ligand for L-selectin is a novel mucinlike molecule. Cell 69: 927-938, 1992.
[0033254]23842.Lasky, L. A.; Singer, M. S.; Yednock, T. A.; Dowbenko, D.; Fennie, C.; Rodriguez, H.; Nguyen, T.; Stachel, S.; Rosen, S. D.: Cloning of a lymphocyte homing receptor reveals a lectin domain. Cell 56: 1045-1055, 1989.
[0033255]23843.Ord, D. C.; Ernst, T. J.; Zhou, L.-J.; Rambaldi, A.; Spertini, O.; Griffin, J.; Tedder, T. F.: Structure of the gene encoding the human leukocyte adhesion molecule-1 (TQ1, Leu-8) of lymphocytes and neutrophils. J. Biol. Chem. 265: 7760-7767, 1990.
[0033256]23844.Siegelman, M. H.; Weissman, I. L.: Human homologue of mouse lymph node homing receptor: evolutionary conservation at tandem cell interaction domains. Proc. Nat. Acad. Sci. 86: 5562-5566, 1989.
[0033257]23845.Sitrin, R. G.; Pan, P. M.; Blackwood, R. A.; Huang, J.; Petty, H. R.: Cutting edge: evidence for a signaling partnership between urokinase receptors (CD87) and L-selectin (CD62L) in human polymorphonuclear neutrophils. J. Immun. 166: 4822-4825, 2001.
[0033258]23846.Tedder, T. F.; Isaacs, C. M.; Ernst, T. J.; Demetri, G. D.; Adler, D. A.; Disteche, C. M.: Isolation and chromosomal localization of cDNAs encoding a novel human lymphocyte cell surface molecule, LAM-1: homology with the mouse lymphocyte homing receptor and other human adhesion proteins. J. Exp. Med. 170: 123-133, 1989.
[0033259]23847.Aizawa, S.; Nakano, H.; Ishida, T.; Horie, R.; Nagai, M.; Ito, K.; Yagita, H.; Okumura, K.; Inoue, J.; Watanabe, T.: Tumor necrosis factor receptor-associated factor (TRAF) 5 and TRAF2 are involved in CD30-mediated NF-kappa-B activation. J. Biol. Chem. 272: 2042-2045, 1997.
[0033260]23848.Durkop, H.; Latza, U.; Hummel, M.; Eitelbach, F.; Seed, B.; Stein, H.: Molecular cloning and expression of a new member of the nerve growth factor receptor family that is characteristic for Hodgkin's disease. Cell 68: 421-427, 1992.
[0033261]23849.Kurts, C.; Carbone, F. R.; Krummel, M. F.; Koch, K. M.; Miller, J. F. A. P.; Heath, W. R.: Signalling through CD30 protects against autoimmune diabetes mediated by CD8 T cells. Nature 398: 341-344, 1999.
[0033262]23850.McClive, P. J.; Morahan, G.: Assignment of the mouse homologues of 6 loci from HSA1p to chromosomes 3 and 4. Genomics 23: 243-246, 1994.
[0033263]23851.Stein, H.; Gerdes, J.; Schwab, U.; Lemke, H.; Mason, D. Y.; Ziegler, A.; Schienle, W.; Diehl, V.: Identification of Hodgkin and Sternberg-Reed cells as a unique cell type derived from a newly detected small cell population. Int. J. Cancer 30: 445-449, 1982.
[0033264]23852.de Lau, W.; Clevers, H.: LEF1 turns over a new leaf. Nature Genet. 28: 3-5, 2001.
[0033265]23853.Hovanes, K.; Li, T. W. H.; Munguia, J. E.; Truong, T.; Milovanovic, T.; Marsh, J. L.; Holcombe, R. F.; Waterman, M. L.: Beta-catenin-sensitive isoforms of lymphoid enhancer factor-1 are selectively expressed in colon cancer. Nature Genet. 28: 53-57, 2001.
[0033266]23854.Love, J. J.; Li, X.; Case, D. A.; Giese, K.; Grosschedl, R.; Wright, P. E.: Structural basis for DNA bending by the architectural transcription factor LEF-1. Nature 376: 791-795, 1995.
[0033267]23855.Milatovich, A.; Travis, A.; Grosschedl, R.; Francke, U.: LEF1, the gene for lymphoid enhancer-binding factor 1, mapped to human chromosome 4 (q23-q25) and distal mouse chromosome 3 by Southern blot analysis and fluorescence in situ hybridization. (Abstract) Cytogenet. Cell Genet. 58: 1888 only, 1991.
[0033268]23856.Milatovich, A.; Travis, A.; Grosschedl, R.; Francke, U.: Gene for lymphoid enhancerbinding factor 1 (LEF1) mapped to human chromosome 4 (q23-q25) and mouse chromosome 3 near Egf. Genomics 11: 1040-1048, 1991.
[0033269]23857.van Genderen, C.; Okamura, R. M.; Farinas, I.; Quo, R. G.; Parslow, T. G.; Bruhn, L.; Grosschedl, R.: Development of several organs that require inductive epithelial-mesenchymal interactions is impaired in LEF-1-deficient mice. Genes Dev. 8: 2691-2703, 1994.
[0033270]23858.Waterman, M. L.; Fischer, W. H.; Jones, K. A.: A thymus-specific member of the HMG protein family regulates the human T cell receptor C alpha enhancer. Genes Dev. 5: 656-669, 1991.
[0033271]23859.Zhou, P.; Byrne, C.; Jacobs, J.; Fuchs, E.: Lymphoid enhancer factor 1 directs hair follicle patterning and epithelial cell fate. Genes Dev. 9: 700-713, 1995.
[0033272]23860.White, P. S.; Jensen, S. J.; Rajalingam, V.; Stairs, D.; Sulman, E. P.; Maris, J. M.; Biegel, J. A.; Wooster, R.; Brodeur, G. M.: Physical mapping of the CA6, ENO1, and SLC2A5 (GLUT5) genes and reassignment of SLC2A5 to 1p36.2. Cytogenet. Cell Genet. 81: 60-64, 1998.
[0033273]23861.Puranam, R. S.; Eubanks, J. H.; Heinemann, S. F.; McNamara, J. O.: Chromosomal localization of gene for human glutamate receptor subunit-7. Somat. Cell Molec. Genet. 19: 581-588, 1993.
[0033274]23862.Paschen, W.; Hedreen, J. C.; Ross, C. A.: RNA editing of the glutamate receptor subunits GluR2 and GluR6 in human brain tissue. J. Neurochem. 63: 1596-1602, 1994.
[0033275]23863.Gregor, P.; Reeves, R. H.; Jabs, E. W.; Yang, X.; Dackowski, W.; Rochelle, J. M.; Brown, R. H., Jr.; Haines, J. L.; O'Hara, B. F.; Uhl, G. R.; Seldin, M. F.: Chromosomal localization of glutamate receptor genes: relationship to familial amyotrophic lateral sclerosis and other neurological disorders of mice and humans. Proc. Nat. Acad. Sci. 90: 3053-3057, 1993.
[0033276]23864.McNamara, J. O.; Eubanks, J. H.; McPherson, J. D.; Wasmuth, J. J.; Evans, G. A.; Heinemann, S. F.: Chromosomal localization of human glutamate receptor genes. J. Neurosci. 12: 2555-2562, 1992.
[0033277]23865.Armstrong, N.; Gouaux, E.: Mechanisms for activation and antagonism of an AMPAsensitive glutamate receptor: crystal structures of the GluR2 ligand binding core. Neuron 28: 165-181, 2000.
[0033278]23866.Brusa, R.; Zimmermann, F.; Koh, D.-S.; Feldmeyer, D.; Gass, P.; Seeburg, P. H.; Sprengel, R.: Early-onset epilepsy and postnatal lethality associated with an editing-deficient GluR-B allele in mice. Science 270: 1677-1680, 1995.
[0033279]23867.Hollmann, M.; Hartley, M.; Heinemann, S.: Ca(2+) permeability of KA-AMPA-gated glutamate receptor channels depends on subunit composition. Science 252: 851-853, 1991.
[0033280]23868.Kohler, M.; Kornau, H. C.; Seeburg, P. H.: The organization of the gene for the functionally dominant alpha-amino-3-hydroxy-5-methylisoxazole-4-propionic acid receptor subunit Glu4-B. J. Biol. Chem. 269: 17367-17370, 1994.
[0033281]23869.Sun, W.; Ferrer-Montiel, A. V.; Schinder, A. F.; McPherson, J. P.; Evans, G. A.; Montal, M.: Molecular cloning, chromosomal mapping, and functional expression of human brain glutamate receptors. Proc. Nat. Acad. Sci. 89: 1443-1447, 1992.
[0033282]23870.Sun, Y.; Olson, R.; Horning, M.; Armstrong, N.; Mayer, M.; Gouaux, E.: Mechanism of glutamate receptor desensitization. Nature 417: 245-253, 2002.
[0033283]23871.Shows, T. B.: Linkage of loci for human pyruvate kinase and mannosephosphate isomerase in somatic cell hybrids. (Abstract) Am. J. Hum. Genet. 24: 13A only, 1972.
[0033284]23872.Shows, T. B.: Somatic cell genetics of enzyme markers associated with three human linkage groups.In: Davidson, R. L.: Proc. Conf. Somatic Cell Hybridization, Orlando, Fla. (pub.) 1973.
[0033285]23873.Champion, M. J.; Brown, J. A.; Shows, T. B.: Assignment of cytoplasmic alphamannosidase (MAN-A) and confirmation of the mitochondrial isocitrate dehydrogenase (IDH-M) genes to the q11--qter region of chromosome 15 in man. Cytogenet. Cell Genet. 22: 498-502, 1978.
[0033286]23874.Ferguson-Smith, M. A.; Westerveld, A.: Report of the committee on the genetic constitution of chromosomes 13, 14, 15, 16, 17, 18, 19, 20, 21, and 22 (HGM5). Cytogenet. Cell Genet. 25: 59-73, 1979.
[0033287]23875.Neri, G.; Ricci, R.; Pelino, A.; Bova, R.; Tedeschi, B.; Serra, A.: A boy with ring chromosome 15 derived from a t(15q;15q) Robertsonian translocation in the mother: cytogenetic and biochemical findings. Am. J. Med. Genet. 14: 307-314, 1983.
[0033288]23876.Chui, D.; Oh-Eda, M.; Liao, Y.-F.; Panneerselvam, K.; Lai, A.; Marek, K. W.; Freeze, H. H.; Moremen, K. W.; Fukuda, M. N.; Marth, J. D.: Alpha-mannosidase-II deficiency results in dyserythropoiesis and unveils an alternate pathway in oligosaccharide biosynthesis. Cell 90: 157-167, 1997.
[0033289]23877.Chui, D.; Sellakumar, G.; Green, R. S.; Sutton-Smith, M.; McQuistan, T.; Marek, K. W.; Morris, H. R.; Dell, A.; Marth, J. D.: Genetic remodeling of protein glycosylation in vivo induces autoimmune disease. Proc. Nat. Acad. Sci. 98: 1142-1147, 2001.
[0033290]23878.Gasparini, P.; del Giudice, E. M.; Delaunay, J.; Totaro, A.; Granatiero, M.; Melchionda, S.; Zelante, L.; Iolascon, A.: Localization of the congenital dyserythropoietic anemia II locus to chromosome 20q11.2 by genomewide search. Am. J. Hum. Genet. 61: 1112-1116, 1997.
[0033291]23879.Misago, M.; Liao, Y.-F.; Kudo, S.; Eto, S.; Mattei, M.-G.; Moremen, K. W.; Fukuda, M. N.: Molecular cloning and expression of cDNAs encoding human alpha-mannosidase II and a previously unrecognized alpha-mannosidase II(X) isozyme. Proc. Nat. Acad. Sci. 92: 11766-11770, 1995.
[0033292]23880.Moremen, K. W.; Robbins, P. W.: Isolation, characterization, and expression of cDNAs encoding murine alpha-mannosidase II, a Golgi enzyme that controls conversion of high mannose to complex N-glycans. J. Cell Biol. 115: 1521-1534, 1991.
[0033293]23881.Wada, A.; Sakamoto, H.; Katoh, O.; Yoshida, T.; Yokota, J.; Little, P. F. R.; Sugimura, T.; Terada, M.: Two homologous oncogenes, HST1 and INT2, are closely located in human genome. Biochem. Biophys. Res. Commun. 157: 828-835, 1988.
[0033294]23882.Yoshida, T.; Tsutsumi, M.; Sakamoto, H.; Miyagawa, K.; Teshima, S.; Sugimura, T.; Terada, M.: Expression of the HST1 oncogene in human germ cell tumors. Biochem. Biophys. Res. Commun. 155: 1324-1329, 1988.
[0033295]23883.Birchmeier, C.; Birnbaum, D.; Waitches, G.; Fasano, O.; Wigler, M.: Characterization of an activated human ROS gene. Molec. Cell. Biol. 6: 3109-3116, 1986.
[0033296]23884.Birchmeier, C.; Sharma, S.; Wigler, M.: Expression and rearrangement of the ROS1 gene in human glioblastoma cells. Proc. Nat. Acad. Sci. 84: 9270-9274, 1987.
[0033297]23885.Nagarajan, L.; Louie, E.; Tsujimoto, Y.; Balduzzi, P. C.; Huebner, K.; Croce, C. M.: The human c-ros gene (ROS) is located at chromosome region 6q16-6q22. Proc. Nat. Acad. Sci. 83: 6568-6572, 1986.
[0033298]23886.Rabin, M.; Birnbaum, D.; Wigler, M.; Ruddle, F. H.: MCF3 oncogene mapped to region on chromosome 6 associated with malignant transformation. (Abstract) Am. J. Hum. Genet. 37 only, 1985.
[0033299]23887.Rabin, M.; Birnbaum, D.; Young, D.; Birchmeier, C.; Wigler, M.; Ruddle, F. H.: Human ROS1 and MAS1 oncogenes located in regions of chromosome 6 associated with tumor-specific rearrangements. Oncogene Res. 1: 169-178, 1987.
[0033300]23888.Satoh, H.; Yoshida, M. C.; Matsushime, H.; Shibuya, M.; Sasaki, M.: Regional localization of the human c-ros-1 on 6q22 and flt on 13q12. Jpn. J. Cancer Res. 78: 772-775, 1987.
[0033301]23889.Yoshida, M. C.; Satoh, H.; Matsushime, H.; Shibuya, M.; Sasaki, M.: Two ros-related protooncogenes, c-ros-1 and flt, are regionally mapped on human chromosomes 6q22 and 13q12, respectively. (Abstract) Cytogenet. Cell Genet. 46: 724 only, 1987.
[0033302]23890.Fong, G.-H.; Rossant, J.; Breitman, M. L.: Role of the Flt-1 receptor tyrosine kinase in regulating the assembly of vascular endothelium. Nature 376: 65-69, 1995.
[0033303]23891.He, Y.; Smith, S. K.; Day, K. A.; Clark, D. E.; Licence, D. R.; Charnock-Jones, D. S.: Alternative splicing of vascular endothelial growth factor (VEGF)-R1 (FLT-1) pre-mRNA is important for the regulation of VEGF activity. Molec. Endocr. 13: 537-545, 1999.
[0033304]23892.Imbert, A.; Rosnet, O.; Marchetto, S.; Ollendorff, V.; Birnbaum, D.; Pebusque, M.-J.: Characterization of a yeast artificial chromosome from human chromosome band 13q12 containing the FLT1 and FLT3 receptor-type tyrosine kinase genes. Cytogenet. Cell Genet. 67: 175-177, 1994.
[0033305]23893.Kendall, R. L.; Wang, G.; Thomas, K. A.: Identification of a natural soluble form of the vascular endothelial growth factor receptor, FLT-1, and its heterodimerization with KDR. Biochem. Biophys. Res. Commun. 226: 324-328, 1996.
[0033306]23894.Shalaby, F.; Rossant, J.; Yamaguchi, T. P.; Gertsenstein, M.; Wu, X.-F.; Breitman, M. L.; Schuh, A. C.: Failure of blood-island formation and vasculogenesis in Flk-1-deficient mice. Nature 376: 62-65, 1995.
[0033307]23895.Wiesmann, C.; Fuh, G.; Christinger, H. W.; Eigenbrot, C.; Wells, J. A.; de Vos, A. M.: Crystal structure at 1.7 Angstrom resolution of VEGF in complex with domain 2 of the Flt-1 receptor. Cell 91: 695-704, 1997. Cell 91:695-704, 1997
[0033308]23896.Dabiri, G. A.; Young, C. L.; Rosenbloom, J.; Southwick, F. S.: Molecular cloning of human macrophage capping protein cDNA: a unique member of the gelsolin/villin family expressed primarily in macrophages. J. Biol. Chem. 267: 16545-16552, 1992.
[0033309]23897.Mishra, V. S.; Henske, E. P.; Kwiatkowski, D. J.; Southwick, F. S.: The human actinregulatory protein cap G: gene structure and chromosome location. Genomics 23: 560-565, 1994.
[0033310]23898.Southwick, F. S.; DiNubile, M. J.: Rabbit alveolar macrophages contain a Ca(2+)-sensitive, 41,000-Dalton protein which reversibly blocks the 'barbed' ends of actin filaments but does not sever them. J. Biol. Chem. 261: 14191-14195, 1986.
[0033311]23899.Fukai, K.; Oh, J.; Frenk, E.; Almodovar, C.; Spritz, R. A.: Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-q23.3. Hum. Molec. Genet. 4: 1665-1669, 1995.
[0033312]23900.Le Beau, M. M.; Diaz, M. O.; Plowman, G. D.; Brown, J. P.; Rowley, J. D.: Chromosomal sublocalization of the human p97 melanoma antigen. Hum. Genet. 72: 294-296, 1986.
[0033313]23901.Plowman, G. D.; Brown, J. P.; Enns, C. A.; Schroder, J.; Nikinmaa, B.; Sussman, H. H.; Hellstrom, K. E.; Hellstrom, I.: Assignment of the gene for human melanoma-associated antigen p97 to chromosome 3. Nature 303: 70-72, 1983.
[0033314]23902.Rose, T. M.; Plowman, G. D.; Teplow, D. B.; Dreyer, W. J.; Hellstrom, K. E.; Brown, J. P.: Primary structure of the human melanoma-associated antigen p97 (melanotransferrin) deduced from the mRNA sequence. Proc. Nat. Acad. Sci. 83: 1261-1265, 1986.
[0033315]23903.Seligman, P. A.; Butler, C. D.; Massey, E. J.; Kaur, J. A.; Brown, J. P.; Plowman, G. D.; Miller, Y.; Jones, C.: The p97 antigen is mapped to the q24-qter region of chromosome 3, the same region as the transferrin receptor. Am. J. Hum. Genet. 38: 540-548, 1986.
[0033316]23904.Yang, F.; Lum, J. B.; McGill, J. R.; Moore, C. M.; Naylor, S. L.; van Bragt, P. H.; Baldwin, W. D.; Bowman, B. H.: Human transferrin: cDNA characterization and chromosomal localization. Proc. Nat. Acad. Sci. 81: 2752-2756, 1984.
[0033317]23905.Randerson-Moor, J. A.; Harland, M.; Williams, S.; Cuthbert-Heavens, D.; Sheridan, E.; Aveyard, J.; Sibley, K.; Whitaker, L.; Knowles, M.; Bishop, J. N.; Bishop, D. T.: A germline deletion of p14(ARF) but not CDKN2A in a melanoma-neural system tumour syndrome family. Hum. Molec. Genet. 10: 55-62, 2001.
[0033318]23906.Fong, L. Y. Y.; Fidanza, V.; Zanesi, N.; Lock, L. F.; Siracusa, L. D.; Mancini, R.; Siprashvili, Z.; Ottey, M.; Martin, S. E.; Druck, T.; McCue, P. A.; Croce, C. M.; Huebner, K.: Muir-Torre-like syndrome in Fhit-deficient mice. Proc. Nat. Acad. Sci. 97: 4742-4747, 2000.
[0033319]23907.Chemelli, R. M.; Willie, J. T.; Sinton, C. M.; Elmquist, J. K.; Scammell, T.; Lee, C.; Richardson, J. A.; Williams, S. C.; Xiong, Y.; Kisanuki, Y.; Fitch, T. E.; Nakazato, M.; Hammer, R. E.; Saper, C. B.; Yanagisawa, M.: Narcolepsy in orexin knockout mice: molecular genetics of sleep regulation. Cell 437-451, 1999.
[0033320]23908.Adkins, S.; Gan, K. N.; Mody, M.; La Du, B. N.: Molecular basis for the polymorphic forms of human serum paraoxonase/arylesterase: glutamine or arginine at position 191, for the respective A and B allozymes. Am. J. Hum. Genet. 52: 598-608, 1993.
[0033321]23909.Antikainen, M.; Murtomaki, S.; Syvanne, M.; Pahlman, R.; Tahvanainen, E.; Jauhiainen, M.; Frick, M. H.; Ehnholm, C.: The gln-arg191 polymorphism of the human paraoxonase gene (HUMPONA) is not associated with the risk of coronary artery disease in Finns. J. Clin. Invest. 98: 883-885, 1996.
[0033322]23910.Augustinsson, K.-B.; Henricson, B.: A genetically controlled esterase in rat plasma. Biochim. Biophys. Acta 124: 323-331, 1966.
[0033323]23911.Barbieri, M.; Bonafe, M.; Marfella, R.; Ragno, E.; Giugliano, D.; Franceschi, C.; Paolisso, G.: LL-paraoxonase genotype is associated with a more severe degree of homeostasis model assessment IR in healthy subjects. J. Clin. Endocr. Metab. 87: 222-225, 2002.
[0033324]23912.Brophy, V. H.; Jampsa, R. L.; Clendenning, J. B.; McKinstry, L. A.; Jarvik, G. P.; Furlong, C. E.: Effects of 5-prime regulatory-region polymorphisms on paraoxonase-gene (PON1) expression. Am. J. Hum. Genet. 68: 1428-1436, 2001.
[0033325]23913.Cherry, N.; Mackness, M.; Durrington, P.; Povey, A.; Dippnall, M.; Smith, T.; Mackness, B.: Paraoxonase (PON1) polymorphisms in farmers attributing ill health to sheep dip. Lancet 359: 763-764, 2002.
[0033326]23914.Clendenning, J. B.; Humbert, R.; Green, E. D.; Wood, C.; Traver, D.; Furlong, C. E.: Structural organization of the human PON1 gene. Genomics 35: 586-589, 1996.
[0033327]23915.Coates, P. M.; Mestriner, M. A.; Hopkinson, D. A.: A preliminary interpretation of the esterase isozymes of human tissues. Ann. Hum. Genet. 39: 1-20, 1975.
[0033328]23916.Davies, H. G.; Richter, R. J.; Keifer, M.; Broomfield, C. A.; Sowalla, J.; Furlong, C. E.: The effect of the human serum paraoxonase polymorphism is reversed with diazoxon, soman and sarin. Nature Genet. 14: 334-336, 1996.
[0033329]23917.Deakin, S.; Leviev, I.; Nicaud, V.; Meynet, M.-C. B.; Tiret, L.; James, R. W.: Paraoxonase-1 L55M polymorphism is associated with an abnormal oral glucose tolerance test and differentiates high risk coronary disease families. J. Clin. Endocr. Metab. 87: 1268-1273, 2002.
[0033330]23918.Eckerson, H. W.; Romson, J.; Wyte, C.; La Du, B. N.: The human serum paraoxonase polymorphism: identification of phenotypes by their response to salts. Am. J. Hum. Genet. 35: 214-227, 1983.
[0033331]23919.Eckerson, H. W.; Wyte, C. M.; La Du, B. N.: The human serum paraoxonase/arylesterase polymorphism. Am. J. Hum. Genet. 35: 1126-1136, 1983.
[0033332]23920.Eiberg, H.; Mohr, J.: Linkage relations of the paraoxonase polymorphism with 43 marker systems. (Abstract) Cytogenet. Cell Genet. 25: 150, 1979.
[0033333]23921.Rey-Campos, J.; Chouard, T.; Yaniv, M.; Cereghini, S.: vHNF1 is a homeoprotein that activates transcription and forms heterodimers with HNF1. EMBO J. 10: 1445-1457, 1991.
[0033334]23922.Shih, D. Q.; Bussen, M.; Sehayek, E.; Ananthanarayanan, M.; Shneider, B. L.; Suchy, F. J.; Shefer, S.; Bollileni, J. S.; Gonzalez, F. J.; Breslow, J. L.; Stoffel, M.: Hepatocyte nuclear factor-1-alpha is an essential regulator of bile acid and plasma cholesterol metabolism. Nature Genet. 27: 375-382, 2001.
[0033335]23923.Urhammer, S. A.; Hansen, T.; Ekstrom, C. T.; Eiberg, H.; Pederson, O.: The Ala/Val98 polymorphism of the hepatocyte nuclear factor-1-alpha gene contributes to the interindividual variation in serum C-peptide response during an oral glucose tolerance test: evidence from studies of 231 glucosetolerant first degree relatives of type 2 diabetic probands. J. Clin. Endocr. Metab. 83: 4506-4509, 1998.
[0033336]23924.Urhammer, S. A.; Moller, A. M.; Nyholm, B.; Ekstrom, C. T.; Eiberg, H.; Clausen, J. O.; Hansen, T.; Pedersen, O.; Schmitz, O.: The effect of two frequent amino acid variants of the hepatocyte nuclear factor-1-alpha gene on estimates of the pancreatic beta-cell function in Caucasian glucose-tolerant first-degree relatives of type 2 diabetic patients. J. Clin. Endocr. Metab. 83: 3992-3995, 1998.
[0033337]23925.Urhammer, S. A.; Rasmussen, S. K.; Kaisaki, P. J.; Oda, N.; Yamagata, K.; Moller, A. M.; Fridberg, M.; Hansen, L.; Hansen, T.; Bell, G. I.; Pedersen, O.: Genetic variation in the hepatocyte nuclear factor-1-alpha gene in Danish Caucasians with late-onset NIDDM. Diabetologia 40: 473-475, 1997.
[0033338]23926.Vaxillaire, M.; Rouard, M.; Yamagata, K.; Oda, N.; Kaisaki, P. J.; Boriraj, V. V.; Chevre, J.-C.; Boccio, V.; Cox, R. D.; Lathrop, G. M.; Dussoix, P.; Philippe, J.; Timsit, J.; Charpentier, G.; Velho, G.; Bell, G. I.; Froguel, P.: Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha gene associated with maturity-onset diabetes of the young (MODY3). Hum. Molec. Genet. 6: 583-586, 1997.
[0033339]23927.Yamada, S.; Nishigori, H.; Onda, H.; Utsugi, T.; Yanagawa, T.; Maruyama, T.; Onigata, K.; Nagashima, K.; Nagai, R.; Morikawa, A.; Takeuchi, T.; Takeda, J.: Identification of mutations in the hepatocyte nuclear factor (HNF)-1-alpha gene in Japanese subjects with IDDM. Diabetes 46: 1643-1647, 1997.
[0033340]23928.Yamagata, K.; Oda, N.; Kalsaki, P. J.; Menzel, S.; Furuta, H.; Vaxillaire, M.; Southam, L.; Cox, R. D.; Lathrop, G. M.; Borhaj, V. V.; Chen, X.; Cox, N. J.; Oda, Y.; Yano, H.; Le Beau, M. M.; Yamada, S.; Nishigori, H.; Takeda, J.; Fajans, S. S.; Hattersley, A. T.; Iwasaki, N.; Hansen, T.; Pedersen, O.; Polonsky, K. S.; Turner, R. C.; Velho, G.; Chevre, J.-C.; Froguel, P.; Bell, G. I.: Mutations in the hepatocyte nuclear factor-1-alpha gene in maturity-onset diabetes of the young (MODY3). Nature 384: 455-457, 1996.
[0033341]23929.Yoshiuchi, I.; Yamagata, K.; Yoshimoto, M.; Zhu, Q.; Yang, Q.; Nammo, T.; Uenaka, R.; Kinoshita, E.; Hanafusa, T.; Miyagawa, J.; Matsuzawa, Y.: Analysis of a non-functional HNF-1-alpha (TCF1) mutation in Japanese subjects with familial type 1 diabetes. Hum. Mutat. 18: 345-351, 2001.
[0033342]23930.Dhanasekaran, S. M.; Barrette, T. R.; Ghosh, D.; Shah, R.; Varambally, S.; Kurachi, K.; Pienta, K. J.; Rubin, M. A.; Chinnaiyan, A. M.: Delineation of prognostic biomarkers in prostate cancer. Nature 412: 822-826, 2001.
[0033343]23931.Leytus, S. P.; Loeb, K. R.; Hagen, F. S.; Kurachi, K.; Davie, E. W.: A novel trypsinlike serine protease (hepsin) with a putative transmembrane domain expressed by human liver and hepatoma cells. Biochemistry 27: 1067-1074, 1988.
[0033344]23932.Tsuji, A.; Torres-Rosado, A.; Arai, T.; Le Beau, M. M.; Lemons, R. S.; Chou, S.-H.; Kurachi, K.: Hepsin, a cell membrane-associated protease: characterization, tissue distribution, and gene localization. J. Biol. Chem. 266: 16948-16953, 1991.
[0033345]23933.Wu, Q.; Yu, D.; Post, J.; Halks-Miller, M.; Sadler, J. E.; Morser, J.: Generation and characterization of mice deficient in hepsin, a hepatic transmembrane serine protease. J. Clin. Invest. 101: 321-326, 1998.
[0033346]23934.Cannella, B.; Hoban, C. J.; Gao, Y.-L.; Garcia-Arenas, R.; Lawson, D.; Marchionni, M.; Gwynne, D.; Raine, C. S.: The neuregulin, glial growth factor 2, diminishes autoimmune demyelination and enhances remyelination in a chronic relapsing model for multiple sclerosis. Proc. Nat. Acad. Sci. 95: 10100-10105, 1998.
[0033347]23935.Falls, D. L.; Rosen, K. M.; Corfas, G.; Lane, W. S.; Fischbach, G. D.: ARIA, a protein that stimulates acetylcholine receptor synthesis, is a member of the Neu ligand family. Cell 72: 801-815, 1993.
[0033348]23936.Fernandez, P.-A.; Tang, D. G.; Cheng, L.; Prochiantz, A.; Mudge, A. W.; Raff, M. C.: Evidence that axon-derived neuregulin promotes oligodendrocyte survival in the developing rat optic nerve. Neuron 28: 81-90, 2000.
[0033349]23937.Holmes, W. E.; Sliwkowski, M. X.; Akita, R. W.; Henzel, W. J.; Lee, J.; Park, J. W.; Yansura, D.; Abadi, N.; Raab, H.; Lewis, G. D.; Shepard, H. M.; Kuang, W.-J.; Wood, W. I.; Goeddel, D. V.; Vandlen, R. L.: Identification of heregulin, a specific activator of p185(erbB2). Science 256: 1205-1210, 1992.
[0033350]23938.Huang, Y. Z.; Won, S.; Ali, D. W.; Wang, Q.; Tanowitz, M.; Du, Q. S.; Pelkey, K. A.; Yang, D. J.; Xiong, W. C.; Salter, M. W.; Mei, L.: Regulation of neuregulin signaling by PSD-95 interacting with ErbB4 at CNS synapses. Neuron 26: 443-455, 2000.
[0033351]23939.Lee, J.; Wood, W. I.: Assignment of heregulin (HGL) to human chromosome 8p22-p11 by PCR analysis of somatic cell hybrid DNA. Genomics 16: 790-791, 1993.
[0033352]23940.Martinou, J.-C.; Falls, D. L.; Fischbach, G. D.; Merlie, J. P. : Acetylcholine receptorinducing activity stimulates expression of the epsilon-subunit gene of the muscle acetylcholine receptor. Proc. Nat. Acad. Sci. 88: 7669-7673, 1991.
[0033353]23941.Ni, C.-Y.; Murphy, M. P.; Golde, T. E.; Carpenter, G.: Gamma-secretase cleavage and nuclear localization of ErbB-4 receptor tyrosine kinase. Science 294: 2179-2181, 2001.
[0033354]23942.Orr-Urtreger, A.; Trakhtenbrot, L.; Ben-Levy, R.; Wen, D.; Rechavi, G.; Lonai, P.; Yarden, Y.: Neural expression and chromosomal mapping of NEU differentiation factor to 8p12-p21. Proc. Nat. Acad. Sci. 90: 1867-1871, 1993.
[0033355]23943.Boyd, D.; Jain, S. K.; Crampton, J.; Barrett, K. J.; Drysdale, J.: Isolation and characterization of a cDNA clone for human ferritin heavy chain. Proc. Nat. Acad. Sci. 81: 4751-4755, 1984.
[0033356]23944.Caskey, J. H.; Jones, C.; Miller, Y. E.; Seligman, P. A.: Human ferritin gene is assigned to chromosome 19. Proc. Nat. Acad. Sci. 80: 482-486, 1983.
[0033357]23945.Costanzo, F.; Colombo, M.; Staempfli, S.; Santoro, C.; Marone, M.; Frank, R.; Delius, H.; Cortese, R.: Structure of gene and pseudogenes of human apoferritin H. Nucleic Acids Res. 14: 721-736, 1986.
[0033358]23946.Cragg, S. J.; Drysdale, J.; Worwood, M.: Genes for the 'H' subunit of human ferritin are present on a number of human chromosomes. Hum. Genet. 71: 108-112, 1985.
[0033359]23947.Eisenstein, R. S.: Iron regulatory proteins and the molecular control of mammalian iron metabolism. Annu. Rev. Nutr. 20: 627-662, 2000.
[0033360]23948.Ferreira, C.; Bucchini, D.; Martin, M.-E.; Levi, S.; Arosio, P.; Grandchamp, B.; Beaumont, C.: Early embryonic lethality of H ferritin gene deletion in mice. J. Biol. Chem. 275: 3021-3024, 2000.
[0033361]23949.Ferreira, C.; Santambrogio, P.; Martin, M.-E.; Andrieu, V.; Feldmann, G.; Henin, D.; Beaumont, C.: H ferritin knockout mice: a model of hyperferritinemia in the absence of iron overload. Blood 98: 525-532, 2001.
[0033362]23950.Gailani, M. R.; Petty, E. M.; Horsthemke, B.; Arnold, A.; Marx, S. J.; Bale, A. E.: Physical mapping of chromosome 11q12-13 by pulsed field gel electrophoresis (PFGE). (Abstract) Cytogenet. Cell Genet. 58: 1959 only, 1991.
[0033363]23951.Gatti, R. A.; Shaked, R.; Mohandas, T. K.; Salser, W.: Human ferritin genes: chromosomal assignments and polymorphisms. Am. J. Hum. Genet. 41: 654-667, 1987.
[0033364]23952.Harrison, P. M.; Arosio, P.: The ferritins: molecular properties, iron storage function and cellular regulation. Biochim. Biophys. Acta 1275: 161-203, 1996.
[0033365]23953.Hentze, M. W.; Keim, S.; Papadopoulos, P.; O'Brien, S.; Modi, W.; Drysdale, J.; Leonard, W. J.; Harford, J. B.; Klausner, R. D. : Cloning, characterization, expression, and chromosomal localization of a human ferritin heavy-chain gene. Proc. Nat. Acad. Sci. 83: 7226-7230, 1986.
[0033366]23954.Kato, J.; Fujikawa, K.; Kanda, M.; Fukuda, N.; Sasaki, K.; Takayama, T.; Kobune, M.; Takada, K.; Takimoto, R.; Hamada, H.; Ikeda, T.; Niitsu, Y.: A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload. Am. J. Hum. Genet. 69: 191-197, 2001.
[0033367]23955.Leibold, E. A.; Munro, H. N.: Cytoplasmic protein binds in vitro to a highly conserved sequence in the 5-prime untranslated region of ferritin heavy- and light-subunit mRNAs. Proc. Nat. Acad. Sci. 85: 2171-2175, 1988.
[0033368]23956.Lauren, P.: The two histological main types of gastric carcinoma: diffuse and so-called intestinal-type carcinoma. An attempt at a histo-clinical classification. Acta Path. Microbiol. Scand. 64: 31-49, 1965.
[0033369]23957.La Vecchia, C.; Negri, E.; Franceschi, S.; Gentile, A.: Family history and the risk of stomach and colorectal cancer. Cancer 70: 50-55, 1992.
[0033370]23958.Zanghieri, G.; Di Gregorio, C.; Sacchetti, C.; Fante, R.; Sassatelli, R.; Cannizzo, G.; Carriero, A.; Ponz de Leon, M.: Familial occurrence of gastric cancer in the 2-year experience of a population-based registry. Cancer 66: 2047-2051, 1990.
[0033371]23959.Canfield, V. A.; Okamoto, C. T.; Chow, D.; Dorfman, J.; Gros, P.; Forte, J. G.; Levenson, R.: Cloning of the H,K-ATPase beta subunit: tissue-specific expression, chromosomal assignment, and relationship to Na,K-ATPase beta subunits. J. Biol. Chem. 265: 19878-19884, 1990.
[0033372]23960.Maeda, M.; Oshiman, K.-I.; Tamura, S.; Futai, M.: Human gastric (H(+) + K(+))-ATPase gene: similarity to (Na(+) + K(+))-ATPase genes in exon/intron organization but difference in control region. J. Biol. Chem. 265: 9027-9032, 1990.
[0033373]23961.Song, I.; Yamada, T.; Trent, J. M.: Mapping of the gene encoding the alpha-subunit of the human H(+),K(+)-ATPase to chromosome 19q13.1 by fluorescent in situ hybridization. Genomics 14: 547-548, 1992.
[0033374]23962.Anderson, L. A.; Friedman, L.; Osborne-Lawrence, S.; Lynch, E.; Weissenbach, J.; Bowcock, A.; King, M.-C.: High-density genetic map of the BRCA1 region of chromosome 17q12-q21. Genomics 17: 618-623, 1993.
[0033375]23963.Cheung, A. T.; Dayanandan, B.; Lewis, J. T.; Korbutt, G. S.; Rajotte, R. V.; Bryer-Ash, M.; Boylan, M. O.; Wolfe, M. M.; Kieffer, T. J. : Glucose-dependent insulin release from genetically engineered K cells. Science 290: 1959-1962, 2000.
[0033376]23964.Fukushima, Y.; Byers, M. G.; Eddy, R. L.; Haley, L. L.; Henry, W. M.; Inagaki, N.; Seino, Y.; Takeda, J.; Yano, H.; Yamada, Y.; Imura, H.; Bell, G. I.; Shows, T. B.: Localization of the human gastric inhibitory polypeptide gene (GIP) to chromosome 17q21.3-q22. (Abstract) Cytogenet. Cell Genet. 51: 1001 only, 1989.
[0033377]23965.Inagaki, N.; Seino, Y.; Takeda, J.; Yano, H.; Yamada, Y.; Bell, G. I.; Eddy, R. L.; Fukushima, Y.; Byers, M. G.; Shows, T. B.; Imura, H.: Gastric inhibitory polypeptide: structure and chromosomal localization of the human gene. Molec. Endocr. 3: 1014-1021, 1989.
[0033378]23966.Lacroix, A.; Bolte, E.; Tremblay, J.; Dupre, J.; Poitras, P.; Fournier, H.; Garon, J.; Garrel, D.; Bayard, F.; Taillefer, R.; Flanagan, R. J.; Hamet, P.: Gastric inhibitory polypeptide-dependent cortisol hypersecretion--a new cause of Cushing's syndrome. New Eng. J. Med. 327: 974-980, 1992.
[0033379]23967.Lewis, T. B.; O'Connell, P.; Leach, R. J.: Localization of glucose-dependent insulinotropic polypeptide (GIP) to a gene cluster on chromosome 17q. Genomics 19: 589-591, 1994.
[0033380]23968.Mohlke, K. L.; Nichols, W. C.; Westrick, R. J.; Novak, E. K.; Cooney, K. A.; Swank, R. T.; Ginsburg, D.: A novel modifier gene for plasma von Willebrand factor level maps to distal mouse chromosome 11. Proc. Nat. Acad. Sci. 93: 15352-15357, 1996.
[0033381]23969.Reznik, Y.; Allali-Zerah, V.; Chayvialle, J. A.; Leroyer, R.; Leymarie, P.; Travert, G.; Lebrethon, M.-C.; Budi, I.; Balliere, A.-M.; Mahoudeau, J.: Food-dependent Cushing's syndrome mediated by aberrant adrenal sensitivity to gastric inhibitory polypeptide. New Eng. J. Med. 327: 981-986, 1992.
[0033382]23970.Ambrose, C. M.; Duyao, M. P.; Barnes, G.; Bates, G. P.; Lin, C. S.; Srinidhi, J.; Baxendale, S.; Hummerich, H.; Lehrach, H.; Altherr, M.; Wasmuth, J.; Buckler, A.; Church, D.; Housman, D.; Berks, M.; Micklem, G.; Durbin, R.; Dodge, A.; Read, A.; Gusella, J.; MacDonald, M. E.: Structure and expression of the Huntington's disease gene: evidence against simple inactivation due to an expanded CAG repeat. Somat. Cell Molec. Genet. 20: 27-38, 1994.
[0033383]23971.Andrew, S. E.; Goldberg, Y. P.; Kremer, B.; Squitieri, F.; Theilmann, J.; Zeisler, J.; Telenius, H.; Adam, S.; Almquist, E.; Anvret, M.; Lucotte, G.; Stoessl, A. J.; Campanella, G.; Hayden, M. R.: Huntington disease without CAG expansion: phenocopies or errors in assignment? Am. J. Hum. Genet. 54: 852-863, 1994.
[0033384]23972.Andrew, S. E.; Goldberg, Y. P.; Kremer, B.; Telenius, H.; Theilmann, J.; Adam, S.; Starr, E.; Squitieri, F.; Lin, B.; Kalchman, M. A.; Graham, R. K.; Hayden, M. R.: The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease. Nature Genet. 4: 398-403, 1993.
[0033385]23973.Aronin, N.; Chase, K.; Young, C.; Sapp, E.; Schwarz, C.; Matta, N.; Kornreich, R.; Landwehrmeyer, B.; Bird, E.; Beal, M. F.; Vonsattel, J.-P.; Smith, T.; Carraway, R.; Boyce, F. M.; Young, A. B.; Penney, J. B.; DiFiglia, M.: CAG expansion affects the expression of mutant huntingtin in Huntington's disease brain. Neuron 15: 1193-1201, 1995.
[0033386]23974.Auerbach, W.; Hurlbert, M. S.; Hilditch-Maguire, P.; Wadghiri, Y. Z.; Wheeler, V. C.; Cohen, S. I.; Joyner, A. L.; MacDonald, M. E.; Turbull, D. H.: The HD mutation causes progressive lethal neurological disease in mice expressing reduced levels of huntingtin. Hum. Molec. Genet. 10: 2515-2523, 2001.
[0033387]23975.Bamford, K. A.; Caine, E. D.; Kido, D. K.; Cox, C.; Shoulson, I.: A prospective evaluation of cognitive decline in early Huntington's disease: functional and radiographic correlates. Neurology 45: 1867-1873, 1995.
[0033388]23976.Barbeau, A.: Parental ascent in the juvenile form of Huntington's chorea. (Letter) Lancet II: 937 only, 1970.
[0033389]23977.Barkley, D. S.; Hardiwidjaja, S.; Menkes, J. H.: Abnormalities in growth of skin fibroblasts of patients with Huntington's disease. Ann. Neurol. 1: 426-430, 1977.
[0033390]23978.Barnes, G. T.; Duyao, M. P.; Ambrose, C. M.; McNeil, S.; Perischetti, F.; Srinidhi, J.; Gusella, J. F.; MacDonald, M. E.: Mouse Huntington's disease gene homolog (Hdh). Somat. Cell Molec. Genet. 20: 87-97, 1994.
[0033391]23979.Bates, G. P.; Mangiarini, L.; Mahal, A.; Davies, S. W.: Transgenic models of Huntington's disease. Hum. Molec. Genet. 6: 1633-1637, 1997.
[0033392]23980.Bates, G. P.; Valdes, J.; Hummerich, H.; Baxendale, S.; Le Paslier, D. L.; Monaco, A. P.; Tagle, D.; MacDonald, M. E.; Altherr, M.; Ross, M.; Brownstein, B. H.; Bentley, D.; Wasmuth, J. J.; Gusella, J. F.; Cohen, D.; Collins, F.; Lehrach, H.: Characterization of a yeast artificial chromosome contig spanning the Huntington's disease gene candidate region. Nature Genet. 1: 180-187, 1992.
[0033393]23981.Baxendale, S.; Abdulla, S.; Elgar, G.; Buck, D.; Berks, M.; Micklem, G.; Durbin, R.; Bates, G.; Brenner, S.; Beck, S.; Lehrach, H.: Comparative sequence analysis of the human and pufferfish Huntington's disease genes. Nature Genet. 10: 67-76, 1995.
[0033394]23982.Behan, P. O.; Bone, I.: Hereditary chorea without dementia. J. Neurol. Neurosurg. Psychiat. 40: 687-691, 1977.
[0033395]23983.Bernardi, G.: The isochore organization of the human genome. Annu. Rev. Genet. 23: 637-661, 1989.
[0033396]23984.Bibb, J. A.; Yan, Z.; Svenningsson, P.; Snyder, G. L.; Pieribone, V. A.; Horiuchi, A.; Nairn, A. C.; Messer, A.; Greengard, P.: Severe deficiencies in dopamine signaling in presymptomatic Huntington's disease mice. Proc. Nat. Acad. Sci. 97: 6809-6814, 2000.
[0033397]23985.Bird, E. D.; Caro, A. J.; Pilling, J. B.: A sex related factor in the inheritance of Huntington's chorea. Ann. Hum. Genet. 37: 255-260, 1974.
[0033398]23986.Bloch, M.; Hayden, M. R.: Predictive testing for Huntington disease in childhood: challenges and implications. Am. J. Hum. Genet. 46: 1-4, 1990.
[0033399]23987.Bloch, M.; Hayden, M. R.: Preclinical testing in Huntington disease. (Letter) Am. J. Med. Genet. 27: 733-734, 1987.
[0033400]23988.Boehnke, M.; Conneally, P. M.; Lange, K.: Two models for a maternal factor in the inheritance of Huntington disease. Am. J. Hum. Genet. 35: 845-860, 1983.
[0033401]23989.Brackenridge, C. J.: The relation of type of initial symptoms and line of transmission to ages at onset and death in Huntington's disease. Clin. Genet. 2: 287-297, 1971.
[0033402]23990.Brackenridge, C. J.: Familial correlations for age at onset and age at death in Huntington's disease. J. Med. Genet. 9: 23-32, 1972.
[0033403]23991.Brackenridge, C. J.: Relationship of parental age of rigidity in Huntington's disease. J. Med. Genet. 11: 136-140, 1974.
[0033404]23992.Brackenridge, C. J.; Case, J.; Chiu, E.; Propert, D. N.; Teltscher, B.; Wallace, D. C.: A linkage study of the loci for Huntington's disease and some common polymorphic markers. Ann. Hum. Genet. 42: 201-211, 1978.
[0033405]23993.Brinkman, R. R.; Mezei, M. M.; Theilmann, J.; Almqvist, E.; Hayden, M. R.: The likelihood of being affected with Huntington disease by a particular age, for a specific CAG size. Am. J. Hum. Genet. 60: 1202-1210, 1997.
[0033406]23994.Brothers, C. R. D.: The history and incidence of Huntington's chorea in Tasmania. Proc. Roy. Aust. Coll. Physicians 4: 48-50, 1949.
[0033407]23995.Buetow, K. H.; Shiang, R.; Yang, P.; Nakamura, Y.; Lathrop, G. M.; White, R.; Wasmuth, J. J.; Wood, S.; Berdahl, L. D.; Leysens, N. J.; Ritty, T. M.; Wise, M. E.; Murray, J. C.: A detailed multipoint map of human chromosome 4 provides evidence for linkage heterogeneity and position-specific recombination rates. Am. J. Hum. Genet. 48: 911-925, 1991.
[0033408]23996.Bundey, S.: New mutations in Huntington's chorea. (Letter) J. Med. Genet. 20: 76-77, 1983.
[0033409]23997.Byers, R. K.; Dodge, J. A.: Huntington's chorea in children: report of four cases. Neurology 17: 587-596, 1967.
[0033410]23998.Campbell, A. M. G.; Corner, B. D.; Norman, R. M.; Urich, H.: The rigid form of Huntington's disease. J. Neurol. Neurosurg. Psychiat. 24: 71-77, 1961.
[0033411]23999.Cariello, L.; de Cristofaro, T.; Zanetti, L.; Cuomo, T.; Di Maio, L.; Campanella, G.; Rinaldi, S.; Zanetti, P.; Di Lauro, R.; Varrone, S.: Transglutaminase activity is related to CAG repeat length in patients with Huntington's disease. Hum. Genet. 98: 633-635, 1996.
[0033412]24000.Marshall, D.: Ectodermal dysplasia: report of kindred with ocular abnormalities and hearing defect. Am. J. Ophthal. 45: 143-156, 1958.
[0033413]24001.Korkko, J.; Ritvaniemi, P.; Haataja, L.; Kaariainen, H.; Kivirikko, K. I.; Prockop, D. J.; Ala-Kokko, L.: Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha-I-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy). Am. J. Hum. Genet. 53: 55-61, 1993.
[0033414]24002.Fryns, J. P.; Kleczkowska, A.; Moerman, P.; Vandenberghe, K.: Hereditary hydronephrosis and the short arm of chromosome 6. (Letter) Hum. Genet. 91: 514-515, 1993.
[0033415]24003.Groenen, P. M. A.; Garcia, E.; Debeer, P.; Devriendt, K.; Fryns, J. P.; Van de Ven, W. J. M.: Structure, sequence, and chromosome 19 localization of human USF2 and its rearrangement in a patient with multicystic renal dysplasia. Genomics 38: 141-148, 1996.
[0033416]24004.Groenen, P. M. A.; Vanderlinden, G.; Devriendt, K.; Fryns, J.-P; Van de Ven, W. J. M.: Rearrangement of the human CDC5L gene by a t(6;19)(p21;q13.1) in a patient with multicystic renal dysplasia. Genomics 49: 218-229, 1998.
[0033417]24005.Sepehrnia, B.; Kamboh, M. I.; Adams-Campbell, L. L.; Nwankwo, M.; Ferrell, R. E.: Genetic studies of human apolipoproteins. VII. Population distribution of polymorphisms of apolipoproteins A-I, A-II, A-IV, C-II, E, and H in Nigeria. Am. J. Hum. Genet. 43: 847-853, 1988.
[0033418]24006.Bost, F.; Bourguignon, J.; Martin, J.-P.; Sesboue, R.; Thiberville, L.; Diarra-Mehrpour, M.: Isolation and characterization of the human inter-alpha-trypsin inhibitor heavy-chain H1 gene. Europ. J. Biochem. 218: 283-291, 1993.
[0033419]24007.Galizzi, J.-P.; Zuber, C. E.; Harada, N.; Gorman, D. M.; Kastelein, R.; Banchereau, J.; Howard, M.; Miyajima, A.: Molecular cloning of a cDNA encoding the human interleukin 4 receptor. Int. Immun. 2: 669-675, 1990.
[0033420]24008.Grimbacher, B.; Holland, S. M.; Puck, J. M.: The interleukin-4 receptor variant Q576R in hyper-IgE syndrome. (Letter) New Eng. J. Med. 338: 1073-1074, 1998.
[0033421]24009.Idzerda, R. L.; March, C. J.; Mosley, B.; Lyman, S. D.; VandenBos, T.; Gimpel, S. D.; Din, W. S.; Grabstein, K. H.; Widmer, M. B.; Park, L. S.; Cosman, D.; Beckmann, M. P.: Human interleukin-4 receptor confers biological responsiveness and defines a novel receptor superfamily. J. Exp. Med. 171: 861-873, 1990.
[0033422]24010.Khurana Hershey, G. K.; Friedrich, M. F.; Esswein, L. A.; Thomas, M. L.; Chatila, T. A.: The association of atopy with a gain-of-function mutation in the alpha subunit of the interleukin-4 receptor. New Eng. J. Med. 337: 1720-1725, 1997.
[0033423]24011.Kruse, S.; Japha, T.; Tedner, M.; Sparholt, S. H.; Forster, J.; Kuehr, J.; Deichmann, K. A.; Abello, A.: The polymorphisms S503P and Q576R in the interleukin-4 receptor alpha gene are associated with atopy and influence the signal transduction. Immunology 96: 365-371, 1999.
[0033424]24012.Mitsuyasu, H.; Izuhara, K.; Mao, X.-Q.; Gao, P.-S.; Arinobu, Y.; Enomoto, T.; Kawai, M.; Sasaki, S.; Dake, Y.; Hamasaki, N.; Shirakawa, T.; Hopkin, J. M.: Ile50val variant of IL4R-alpha upregulates IgE synthesis and associates with atopic asthma. (Letter) Nature Genet. 19: 119-120, 1998.
[0033425]24013.Corcoran, A. E.; Riddell, A.; Krooshoop, D.; Venkitaraman, A. R. : Impaired immunoglobulin gene rearrangement in mice lacking the IL-7 receptor. Nature 391: 904-907, 1998.
[0033426]24014.Ober, C.; Leavitt, S. A.; Tsalenko, A.; Howard, T. D.; Hoki, D. M.; Daniel, R.; Newman, D. L.; Wu, X.; Parry, R.; Lester, L. A.; Solway, J.; Blumenthal, M.; King, R. A.; Xu, J.; Meyers, D. A.; Bleecker, E. R.; Cox, N. J.: Variation in the interleukin 4-receptor alpha gene confers susceptibility to asthma and atopy in ethnically diverse populations. Am. J. Hum. Genet. 66: 517-526, 2000.
[0033427]24015.Ober, C.; Tsalenko, A.; Willadsen, S.; Newman, D.; Daniel, R.; Wu, X.; Andal, J.; Hoki, D.; Schneider, D.; True, K.; Schou, C.; Parry, R.; Cox, N.: Genome-wide screen for atopy susceptibility alleles in the Hutterites. Clin. Exp. Allergy 29 (suppl. 4): 11-15, 1999.
[0033428]24016.Patuzzo, C.; Trabetti, E.; Malerba, G.; Martinati, L. C.; Boner, A. L.; Pescollderungg, L.; Zanoni, G.; Pignatti, P. F.: No linkage or association of the IL-4R-alpha gene Q576R mutation with atopic asthma in Italian families. (Letter) J. Med. Genet. 37: 382-384, 2000.
[0033429]24017.Pritchard, M. A.; Baker, E.; Whitmore, S. A.; Sutherland, G. R.; Idzerda, R. L.; Park, L. S.; Cosman, D.; Jenkins, N. A.; Gilbert, D. J.; Copeland, N. G.; Beckmann, M. P.: The interleukin-4 receptor gene (IL4R) maps to 16p11.2-16p12.1 in human and to the distal region of mouse chromosome 7. Genomics 10: 801-806, 1991.
[0033430]24018.Suzuki, H.; Chung, F.; Palmer, E.; Sasaki, T.; Ohara, N.; Taylor, B. A.; Ohara, J.-I.: Gene mapping of mouse IL-4 receptor: the loci of interleukin 4 (IL-4) receptor gene and lymphocyte function associated antigen 1 (LFA-1) gene are closely linked on chromosome 7. Immunogenetics 34: 252-256, 1991.
[0033431]24019.Zurawski, S. M.; Vega, F., Jr.; Huyghe, B.; Zurawski, G.: Receptors for interleukin-13 and interleukin-4 are complex and share a novel component that functions in signal transduction. EMBO J. 12: 2663-2670, 1993.
[0033432]24020.Koshland, M. E.: The coming of age of the immunoglobulin J chain. Annu. Rev. Immun. 3: 425-453, 1985.
[0033433]24021.Max, E. E.; McBride, O. W.; Morton, C. C.; Robinson, M. A.: Human J chain gene: chromosomal localization and associated restriction fragment length polymorphisms. Proc. Nat. Acad. Sci. 83: 5592-5596, 1986.
[0033434]24022.Diarra-Mehrpour, M.; Bourguignon, J.; Sesboue, R.; Mattei, M.-G.; Passage, E.; Salier, J.-P.; Martin, J.-P.: Human plasma inter-alpha-trypsin inhibitor is encoded by four genes on three chromosomes. Europ. J. Biochem. 179: 147-154, 1989.
[0033435]24023.Enghild, J. J.; Thogersen, I. B.; Pizzo, S. V.; Salvesen, G.: Analysis of inter-alphatrypsin inhibitor and a novel trypsin inhibitor, pre-alpha-trypsin inhibitor, from human plasma: polypeptide chain stoichiometry and assembly by glycan. J. Biol. Chem. 264: 15975-15981, 1989.
[0033436]24024.Salier, J. P.; Diarra-Mehrpour, M.; Sesboue, R.; Bourguignon, J.; Benarous, R.; Ohkubo, I.; Kurachi, S.; Kurachi, K.; Martin, J. P. : Isolation and characterization of cDNAs encoding the heavy chain of human inter-alpha-trypsin inhibitor (I-alpha-TI): unambiguous evidence for multipolypeptide chain structure of I-alpha-TI. Proc. Nat. Acad. Sci. 84: 8272-8276, 1987.
[0033437]24025.Salier, J. P.; Simon, D.; Rouet, P.; Raguenez, G.; Muscatelli, F.; Gebhard, W.; Guenet, J. L.; Mattei, M. G.: Homologous chromosomal locations of the four genes for inter-alpha-inhibitor and pre-alpha-inhibitor family in human and mouse: assignment of the ancestral gene for the lipocalin superfamily. Genomics 14: 83-88, 1992.
[0033438]24026.Diarra-Mehrpour, M.; Sarafan, N.; Bourguignon, J.; Bonnet, F.; Bost, F.; Martin, J.-P.: Human inter-alpha-trypsin inhibitor heavy chain H3 gene: genomic organization, promoter analysis, and gene linkage. J. Biol. Chem. 273: 26809-26819, 1998.
[0033439]24027.Goodwin, R. G.; Friend, D.; Ziegler, S. F.; Jerzy, R.; Falk, B. A.; Gimpel, S.; Cosman, D.; Dower, S. K.; March, C. J.; Namen, A. E.; Park, L. S.: Cloning of the human and murine interleukin-7 receptors: demonstration of a soluble form and homology to a new receptor superfamily. Cell 60: 941-951, 1990.
[0033440]24028.Kondo, M.; Takeshita, T.; Higuchi, M.; Nakamura, M.; Sudo, T.; Nishikawa, S.-I.; Sugamura, K.: Functional participation of the IL-2 receptor gamma chain in IL-7 receptor complexes. Science 263: 1453-1454, 1994.
[0033441]24029.Lai, S. Y.; Molden, J.; Goldsmith, M. A.: Shared gamma(c) subunit within the human interleukin-7 receptor complex: a molecular basis for the pathogenesis of X-linked severe combined immunodeficiency. J. Clin. Invest. 99: 169-177, 1997.
[0033442]24030.Lynch, M.; Baker, E.; Park, L. S.; Sutherland, G. R.; Goodwin, R. G.: The interleukin-7 receptor gene is at 5p13. Hum. Genet. 89: 566-568, 1992.
[0033443]24031.Maki, K.; Sunaga, S.; Komagata, Y.; Kodaira, Y.; Mabuchi, A.; Karasuyama, H.; Yokomuro, K.; Miyazaki, J.; Ikuta, K.: Interleukin 7 receptor-deficient mice lack gamma/delta T cells. Proc. Nat. Acad. Sci. 93: 7172-7177, 1996.
[0033444]24032.Noguchi, M.; Nakamura, Y.; Russell, S. M.; Ziegler, S. F.; Tsang, M.; Cao, X.; Leonard, W. J.: Interleukin-2 receptor gamma chain: a functional component of the interleukin-7 receptor. Science 262: 1877-1880, 1993.
[0033445]24033.Peschon, J. J.; Morrissey, P. J.; Grabstein, K. H. et al.: Early lymphocyte expansion is severely impaired in interleukin 7 receptor-deficient mice. J. Exp. Med. 180: 1955-1960, 1994.
[0033446]24034.Puel, A.; Ziegler, S. F.; Buckley, R. H.; Leonard, W. J.: Defective IL7R expression in T-B+NK+ severe combined immunodeficiency. Nature Genet. 20: 394-397, 1998.
[0033447]24035.Mezei, M. M.; Mankodi, A.; Brais, B.; Marineau, C.; Thornton, C. A.; Rouleau, G. A.; Karpati, G.: Minimal expansion of the GCG repeat in the PABP2 gene does not predispose to sporadic inclusion body myositis. Neurology 52: 669-670, 1999.
[0033448]24036.Aleman, A.; Verhaar, H. J. J.; De Haan, E. H. F.; De Vries, W. R.; Samson, M. M.; Drent, M. L.; Van Der Veen, E. A.; Koppeschaar, H. P. F.: Insulin-like growth factor-I and cognitive function in healthy older men. J. Clin. Endocr. Metab. 84: 471-475, 1999.
[0033449]24037.Baker, J.; Liu, J.-P.; Robertson, E. J.; Efstratiadis, A.: Role of insulin-like growth factors in embryonic and postnatal growth. Cell 75: 73-82, 1993.
[0033450]24038.Bowcock, A.; Sartorelli, V.: Polymorphism and mapping of the IGF1 gene, and absence of association with stature among African Pygmies. Hum. Genet. 85: 349-354, 1990.
[0033451]24039.Camacho-Hubner, C.; Woods, K. A.; Miraki-Moud, F.; Hindmarsh, P. C.; Clark, A. J.; Hansson, Y.; Johnston, A.; Baxter, R. C.; Savage, M. O.: Effects of recombinant human insulin-like growth factor I (IGF-I) therapy on the growth hormone-IGF system of a patient with a partial IGF-I gene deletion. J. Clin. Endocr. Metab. 84: 1611-1616, 1999.
[0033452]24040.Goddard, A. D.; Covello, R.; Luoh, S.-M.; Clackson, T.; Attie, K. M.; Gesundheit, N.; Rundle, A. C.; Wells, J. A.; Carlsson, L. M. S.: Mutations of the growth hormone receptor in children with idiopathic short stature. New Eng. J. Med. 333: 1093-1098, 1995.
[0033453]24041.Guler, H.-P.; Binz, K.; Eigenmann, E.; Jaggi, S.; Zimmermann, D.; Zapf, J.; Froesch, E. R.: Small stature and insulin-like growth factors: prolonged treatment of mini-poodles with recombinant human insulin-like growth factor I. Acta Endocr. 121: 456-464, 1989.
[0033454]24042.Schmale, H.; Ivell, R.; Breindl, M.; Darmer, D.; Richter, D.: The mutant vasopressin gene from diabetes insipidus (Brattleboro) rats is transcribed but the message is not efficiently translated. EMBO J. 3: 3289-3293, 1984.
[0033455]24043.Willcutts, M. D.; Felner, E.; White, P. C.: Autosomal recessive familial neurohypophyseal diabetes insipidus with continued secretion of mutant weakly active vasopressin. Hum. Molec. Genet. 8: 1303-1307, 1999.
[0033456]24044.Bichet, D. G.; Hendy, G. N.; Lonergan, M.; Arthus, M.-F.; Ligier, S.; Pausova, Z.; Kluge, R.; Zingg, H.; Saenger, P.; Oppenheimer, E.; Hirsch, D. J.; Gilgenkrantz, S.; Salles, J.-P.; Oberle, I.; Mandel, J.-L.; Gregory, M. C.; Fujiwara, T. M.; Morgan, K.; Scriver, C. R. : X-linked nephrogenic diabetes insipidus: from the ship Hopewell to RFLP studies. Am. J. Hum. Genet. 51: 1089-1102, 1992.
[0033457]24045.Ten Bensel, R. W.; Peters, E. R.: Progressive hydronephrosis, hydroureter, and dilatation of the bladder in siblings with congenital nephrogenic diabetes insipidus. J. Pediat. 77: 439-443, 1970.
[0033458]24046.Fajans, S. S.: Maturity-onset diabetes of the young (MODY). Diabetes Metab. Rev. 5: 579-606, 1989.
[0033459]24047.Harrison, G. S.; Drabkin, H. A.; Kao, F.-T.; Hartz, J.; Hart, I. M.; Chu, E. H. Y.; Wu, B. J.; Morimoto, R. I.: Chromosomal location of human genes encoding major heat-shock protein HSP70. Somat. Cell Molec. Genet. 13: 119-130, 1987.
[0033460]24048.Imai, Y.; Soda, M.; Hatakeyama, S.; Akagi, T.; Hashikawa, T.; Nakayama, K.; Takahashi, R.: CHIP is associated with Parkin, a gene responsible for familial Parkinson's disease, and enhances its ubiquitin ligase activity. Molec. Cell 10: 55-67, 2002.
[0033461]24049.Laroia, G.; Cuesta, R.; Brewer, G.; Schneider, R. J.: Control of mRNA decay by heat shock-ubiquitin-proteasome pathway. Science 284: 499-502, 1999.
[0033462]24050.Milner, C. M.; Campbell, R. D.: Polymorphic analysis of the three MHC-linked HSP70 genes. Immunogenetics 36: 357-362, 1992.
[0033463]24051.Milner, C. M.; Campbell, R. D.: Structure and expression of the three MHC-linked HSP70 genes. Immunogenetics 32: 242-251, 1990.
[0033464]24052.Sargent, C. A.; Dunham, I.; Trowsdale, J.; Campbell, R. D.: Human major histocompatibility complex contains genes for the major heat shock protein HSP70. Proc. Nat. Acad. Sci. 86: 1968-1972, 1989.
[0033465]24053.Bonnycastle, L. L. C.; Yu, C.-E.; Hunt, C. R.; Trask, B. J.; Clancy, K. P.; Weber, J. L.; Patterson, D.; Schellenberg, G. D.: Cloning, sequencing, and mapping of the human chromosome 14 heat shock protein gene (HSPA2). Genomics 23: 85-93, 1994.
[0033466]24054.Dix, D. J.; Allen, J. W.; Collins, B. W.; Mori, C.; Nakamura, N.; Poorman-Allen, P.; Goulding, E. H.; Eddy, E. M.: Targeted gene disruption of Hsp70-2 results in failed meiosis, germ cell apoptosis, and male infertility. Proc. Nat. Acad. Sci. 93: 3264-3268, 1996.
[0033467]24055.Hunt, C. R.; Gasser, D. L.; Chaplin, D. D.; Pierce, J. C.; Kozak, C. A.: Chromosomal localization of five murine HSP70 gene family members: Hsp70-1, Hsp70-2, Hsp70-3, Hsc70t and Grp78. Genomics 16: 193-198, 1993.
[0033468]24056.Roux, A.-F.; Nguyen, V. T. T.; Squire, J. A.; Cox, D. W.: A heat shock gene at 14q22: mapping and expression. Hum. Molec. Genet. 3: 1819-1822, 1994.
[0033469]24057.Wolpowitz, D.; Mason, T. B. A.; Dietrich, P.; Mendelsohn, M.; Talmage, D. A.; Role, L. W.: Cysteine-rich domain isoforms of the neuregulin-1 gene are required for maintenance of peripheral synapses. Neuron 25: 79-91, 2000.
[0033470]24058.Bolton, P.; Powell, J.; Rutter, M.; Buckle, V.; Yates, J. R. W.; Ishikawa-Brush, Y.; Monaco, A. P.: Autism, mental retardation, multiple exostoses and short stature in a female with 46,X,t(X;8)(p22.13;q22.1). Psychiat. Genet. 5: 51-55, 1995.
[0033471]24059.David, G.; van der Schueren, B.; Marynen, P.; Cassiman, J.-J.; van den Berghe, H.: Molecular cloning of amphiglycan, a novel integral membrane heparan sulfate proteoglycan expressed by epithelial and fibroblastic cells. J. Cell Biol. 118: 961-969, 1992.
[0033472]24060.Ishikawa-Brush, Y.; Powell, J. F.; Bolton, P.; Miller, A. P.; Francis, F.; Willard, H. F.; Lehrach, H.; Monaco, A. P.: Autism and multiple exostoses associated with an X;8 translocation occurring within the GRPR gene and 3-prime to the SDC2 gene. Hum. Molec. Genet. 6: 1241-1250, 1997.
[0033473]24061.Lories, V.; De Broeck, H.; David, G.; Cassiman, J. J.; Van den Berghe, H.: Heparan sulfate proteoglycans of human lung fibroblasts: structural heterogeneity of the core proteins of the hydrophobic cell-associated forms. J. Biol. Chem. 262: 854-859, 1987.
[0033474]24062.Marynen, P.; Zhang, J.; Cassiman, J.-J.; David, G.: The gene for the 48kDa and the 90kDa core proteins of cell surface-associated heparan sulphate proteoglycan of human lung fibroblast maps to chromosome 8q2. (Abstract) Cytogenet. Cell Genet. 51: 1040, 1989.
[0033475]24063.Marynen, P.; Zhang, J.; Cassiman, J.-J.; Van den Berghe, H.; David, G.: Partial primary structure of the 48- and 90-kilodalton core proteins of cell surface-associated heparan sulfate proteoglycans of lung fibroblasts: prediction of an integral membrane domain and evidence for multiple distinct core proteins at the cell surface of human lung fibroblasts. J. Biol. Chem. 264: 7017-7024, 1989.
[0033476]24064.Spring, J.; Goldberger, O. A.; Jenkins, N. A.; Gilbert, D. J.; Copeland, N. G.; Bernfield, M.: Mapping of the syndecan genes in the mouse: linkage with members of the Myc gene family. Genomics 21: 597-601, 1994.
[0033477]24065.Glaser, T.; Matthews, K. E.; Hudson, J. W.; Seth, P.; Housman, D. E.; Crerar, M. M.: Localization of the muscle, liver and brain glycogen phosphorylase genes on linkage maps of mouse chromosomes 19, 12 and 2, respectively. Genomics 5: 510-521, 1989.
[0033478]24066.Newgard, C. B.; Littman, D. R.; van Genderen, C.; Smith, M.; Fletterick, R. J.: Human brain glycogen phosphorylase: cloning, sequence analysis, chromosomal mapping, tissue expression, and comparison with the human liver and muscle isozymes. J. Biol. Chem. 263: 3850-3857, 1988.
[0033479]24067.Yasuda, K.; Espinosa, R., III; Davis, E. M.; Le Beau, M. M.; Bell, G. I.: Human somatostatin receptor genes: localization of SSTR5 to human chromosome 20p11.2. Genomics 17: 785-786, 1993.
[0033480]24068.Barclay, A. N.: Personal Communication. Oxford, England 1/9/1989.
[0033481]24069.Douglas, J.; Albertson, D. G.; Barclay, A. N.; Davis, M.; Rabbitts, P. H.: RFLP and mapping of human MOX-1 gene on chromosome 3. Nucleic Acids Res. 16: 9067 only, 1988.
[0033482]24070.Hoek, R. M.; Ruuls, S. R.; Murphy, C. A.; Wright, G. J.; Goddard, R.; Zurawski, S. M.; Blom, B.; Homola, M. E.; Streit, W. J.; Brown, M. H.; Barclay, A. N.; Sedgwick, J. D.: Downregulation of the macrophage lineage through interaction with OX2 (CD200). Science 290: 1768-1771, 2000.
[0033483]24071.McCaughan, G. W.; Clark, M. J.; Barclay, A. N.: Characterization of the human homolog of the rat MRC OX-2 membrane glycoprotein. Immunogenetics 25: 329-335, 1987.
[0033484]24072.McCaughan, G. W.; Clark, M. J.; Hurst, J.; Grosveld, F.; Barclay, A. N.: The gene for MRC OX-2 membrane glycoprotein is localized on human chromosome 3. Immunogenetics 25: 133-135, 1987.
[0033485]24073.Wright, G. J.; Jones, M.; Puklavec, M. J.; Brown, M. H.; Barclay, A. N.: The unusual distribution of the neuronal/lymphoid cell surface CD200 (OX2) glycoprotein is conserved in humans. Immunology 102: 173-179, 2001.
[0033486]24074.Buijs, A.; Sherr, S.; van Baal, S.; van Bezouw, S.; van der Plas, D.; Geurts van Kessel, A.; Riegman, P.; Lekanne Deprez, R.; Zwarthoff, E.; Hagemeijer, A.; Grosveld, G.: Translocation (12;22)(p13;q11) in myeloproliferative disorders results in fusion of the ETS-like TEL gene on 12q13 to the MN1 gene on 22q11. Oncogene 10: 1511-1519, 1995.
[0033487]24075.Lekanne Deprez, R. H.; Groen, N. A.; van Biezen, N. A.; Hagemeijer, A.; van Drunen, E.; Koper, J. W.; Avezaat, C. J. J.; Bootsma, D.; Zwarthoff, E. C.: A t(4;22) in a meningioma points to the localization of a putative tumor-suppressor gene. Am. J. Hum. Genet. 48: 783-790, 1991.
[0033488]24076.Reche, P. A.; Soumelis, V.; Gorman, D. M.; Clifford, T.; Liu, M.; Travis, M.; Zurawski, S. M.; Johnston, J.; Liu, Y.-J.; Spits, H.; de Waal Malefyt, R.; Kastelein, R. A.; Bazan, J. F.: Human thymic stromal lymphopoietin preferentially stimulates myeloid cells. J. Immun. 167: 336-343, 2001.
[0033489]24077.Chrousos, G. P.: Personal Communication. Bethesda, Md. 10/21/2002.
[0033490]24078.Chrousos, G. P.; MacLusky, N. J.; Brandon, D. D.; Tomita, M.; Renquist, D. M.; Loriaux, D. L.; Lipsett, M. B.: Progesterone resistance.In: Chrousos, G. P.; Loriaux, D. L.; Lipsett, M. B.: Steroid Hormone Resistance: Mechanisms and Clinical Aspects. New York: Plenum Press (pub.) 1986.
[0033491]24079.Keller, D. W.; Wiest, W. G.; Askin, F. B.; Johnson, L. W.; Strickler, R. C.: Pseudocorpus luteum insufficiency: a local defect of progesterone action on endometrial stroma. J. Clin. Endocr. Metab. 48: 127-132, 1979.
[0033492]24080.Daiger, S. P.; Reed, L.; Huang, S.-S.; Zeng, Y.-T.; Wang, T.; Lo, W. H. Y.; Okano, Y.; Hase, Y.; Fukuda, Y.; Oura, T.; Tada, K.; Woo, S. L. C.: Polymorphic DNA haplotypes at the phenylalanine hydroxylase (PAH) locus in Asian families with phenylketonuria (PKU). Am. J. Hum. Genet. 45: 319-324, 1989.
[0033493]24081.Desviat, L. R.; Perez, B.; De Lucca, M.; Cornejo, V.; Schmidt, B.; Ugarte, M.: Evidence in Latin America of recurrence of V388M, a phenylketonuria mutation with high in vitro residual activity. Am. J. Hum. Genet. 57: 337-342, 1995.
[0033494]24082.Desviat, L. R.; Perez, B.; Ugarte, M.: A new PKU mutation associated with haplotype 12. Hum. Molec. Genet. 1: 765-766, 1992.
[0033495]24083.Desviat, L. R.; Perez, B.; Ugarte, M.: Phenylketonuria in Spanish Gypsies: prevalence of the IVS10nt546 mutation on haplotype 34. Hum. Mutat. 9: 66-68, 1997.
[0033496]24084.Dianzani, I.; Camaschella, C.; Saglio, G.; Ferrero, G. B.; Ramus, S.; Ponzone, A.; Cotton, R. G. H.: Molecular analysis of contiguous exons of the phenylalanine hydroxylase gene: identification of a new PKU mutation. J. Med. Genet. 30: 228-231, 1993.
[0033497]24085.Dianzani, I.; Devoto, M.; Camaschella, C.; Saglio, G.; Ferrero, G. B.; Cerone, R.; Romano, C.; Romeo, G.; Giovannini, M.; Riva, E.; Angeneydt, F.; Trefz, F. K.; Okano, Y.; Woo, S. L. C.: Haplotype distribution and molecular defects at the phenylalanine hydroxylase locus in Italy. Hum. Genet. 86: 69-72, 1990.
[0033498]24086.Dianzani, I.; Forrest, S. M.; Camaschella, C.; Saglio, G.; Ponzone, A.; Cotton, R. G. H.: Screening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: a new splice mutation. Am. J. Hum. Genet. 48: 631-635, 1991.
[0033499]24087.DiLella, A. G.; Huang, W.-M.; Woo, S. L. C.: Screening for phenylketonuria mutations by DNA amplification with the polymerase chain reaction. Lancet I: 497-499, 1988.
[0033500]24088.DiLella, A. G.; Kwok, S. C. M.; Ledley, F. D.; Marvit, J.; Woo, S. L. C.: Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene. Biochemistry 25: 743-749, 1986.
[0033501]24089.DiLella, A. G.; Marvit, J.; Brayton, K.; Woo, S. L. C.: An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2. Nature 327: 333-336, 1987.
[0033502]24090.DiLella, A. G.; Marvit, J.; Guttler, F.; Woo, S. L. C.: Molecular genetics of phenylketonuria. (Abstract) 7th Int. Cong. Hum. Genet., Berlin 665-666, 1986.
[0033503]24091.DiLella, A. G.; Marvit, J.; Lidsky, A. S.; Guttler, F.; Woo, S. L. C.: Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria. Nature 322: 799-803, 1986.
[0033504]24092.Drogari, E.; Smith, I.; Beasley, M.; Lloyd, J. K.: Timing of strict diet in relation to fetal damage in maternal phenylketonuria: an international collaborative study by the MRC/DHSS phenylketonuria register. Lancet II: 927-930, 1987.
[0033505]24093.Dworniczak, B.; Aulehla-Scholz, C.; Horst, J.: Phenylalanine hydroxylase gene: silent mutation uncovers evolutionary origin of different alleles. Clin. Genet. 38: 270-273, 1990.
[0033506]24094.Dworniczak, B.; Aulehla-Scholz, C.; Horst, J.: Phenylketonuria: detection of a frequent haplotype 4 allele mutation. Hum. Genet. 84: 95-96, 1989.
[0033507]24095.Dworniczak, B.; Aulehla-Scholz, C.; Kalaydjieva, L.; Bartholome, K.; Grudda, K.; Horst, J.: Aberrant splicing of phenylalanine hydroxylase mRNA: the major cause for phenylketonuria in parts of southern Europe. Genomics 11: 242-246, 1991.
[0033508]24096.Dworniczak, B.; Grudda, K.; Stumper, J.; Bartholome, K.; Aulehla-Scholz, C.; Horst, J.: Phenylalanine hydroxylase gene: novel missense mutation in exon 7 causing severe phenylketonuria. Genomics 9: 193-199, 1991.
[0033509]24097.Dworniczak, B.; Kalaydjieva, L.; Aulehla-Scholz, C.; Ullrich, K.; Kremensky, I.; Radeva, B.; Horst, J.: Recurrent nonsense mutation in exon 7 of the phenylalanine hydroxylase gene. Hum. Genet. 87: 731-733, 1991.
[0033510]24098.Dworniczak, B.; Kalaydjieva, L.; Pankoke, S.; Aulehla-Scholz, C.; Allen, G.; Horst, J.: Analysis of exon 7 of the human phenylalanine hydroxylase gene: a mutation hot spot? Hum. Mutat. 1: 138-146, 1992.
[0033511]24099.Economou-Petersen, E.; Henriksen, K. F.; Guldberg, P.; Guttler, F.: Molecular basis for nonphenylketonuria hyperphenylalaninemia. Genomics 14: 1-5, 1992.
[0033512]24100.Eigel, A.; Dworniczak, B.; Kalaydjieva, L.; Horst, J.: A frameshift mutation in exon 2 of the phenylalanine hydroxylase gene linked to RFLP haplotype 1. Hum. Genet. 87: 739-741, 1991.
[0033513]24101.Eiken, H. G.; Knappskog, P. M.; Apold, J.; Flatmark, T.: PKU mutation G46S is associated with increased aggregation and degradation of the phenylalanine hydroxylase enzyme. Hum. Mutat. 7: 228-238, 1996.
[0033514]24102.Eiken, H. G.; Knappskog, P. M.; Apold, J.; Skjelkvale, L.; Boman, H.: A de novo phenylketonuria mutation: ATG (met) to ATA (ile) in the start codon of the phenylalanine hydroxylase gene. Hum. Mutat. 1: 388-391, 1992.
[0033515]24103.Eiken, H. G.; Knappskog, P. M.; Boman, H.; Thune, K. S.; Kaada, G.; Motzfeldt, K.; Apold, J.: Relative frequency, heterogeneity and geographic clustering of PKU mutations in Norway. Europ. J. Hum. Genet. 4: 205-213, 1996.
[0033516]24104.Eiken, H. G.; Knappskog, P. M.; Guldberg, P.; Apold, J.: DGGE analysis as supplement to SSCP analysis of the phenylalanine hydroxylase gene: detection of eight (one de novo, seven inherited) of nine remaining Norwegian PKU mutations. Hum. Mutat. 8: 19-22, 1996.
[0033517]24105.Eiken, H. G.; Stangeland, K.; Skjelkvale, L.; Knappskog, P. M.; Boman, H.; Apol, J.: PKU mutations R408Q and F299C in Norway: haplotype associations, geographic distributions and phenotype characteristics. Hum. Genet. 88: 608-612, 1992.
[0033518]24106.Dautigny, A.; Bernier, I.; Colombani, J.; Jolles, P.: Human platelets as a source of HLA antigens: a study of various solubilization techniques. Biochimie 57: 1197-1201, 1975.
[0033519]24107.Moser, A. B.; Kreiter, N.; Bezman, L.; Lu, S.; Raymond, G. V.; Naidu, S.; Moser, H. W.: Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls. Ann. Neurol. 45: 100-110, 1999.
[0033520]24108.Hoskins, J. A.; Jack, G.; Wade, H. E.; Peiris, R. J. D.; Wright, E. C.; Starr, D. J. T.; Stern, J.: Enzymatic control of phenylalanine intake in phenylketonuria. Lancet I: 392-394, 1980. 100. Howell, R. R.; Stevenson, R. E.: The offspring of phenylketonuric women. Soc. Biol. 18 (suppl.): S19-S29, 1971. 101. Hsia, D. Y.-Y.: Phenylketonuria and its variants. Prog. Med. Genet. 7: 29-68, 1970. 102. Huang, S.; Ren, Z.; Zeng, Y.; Woo, S. L. C.: PAH 399 GTA(val)-to-GTT(val), a new silent mutation found in the Chinese. Hum. Genet. 86: 305-306, 1991. 103. Huang, S.-Z.; Zhou, X.-D.; Ren, Z.-R.; Zeng, Y.-T.; Woo, S. L. C.: Prenatal detection of an arg-to-ter mutation at codon 111 of the PAH gene using DNA amplification. Prenatal Diag. 10: 289-293, 1990. 104. Huntley, C. C.; Stevenson, R. E.: Maternal phenylketonuria: course of two pregnancies. Obstet. Gynec. 34: 694-700, 1969. 105. Hutchesson, A. C. J.; Hall, S. K.; Preece, M. A.; Green, A.: Screening for tyrosinaemia type I. Arch. Child. Dis. 74: F191-F194, 1996. 106. Ivaschenko, T.; Baranov, V. S.: Rapid and efficient PCR/StyI test for identification of common mutation R408W in phenylketonuria patients. J. Med. Genet. 30: 153-154, 1993. 107. Jaruzelska, J.; Henriksen, K. F.; Guttler, F.; Riess, O.; Borski, K.; Blin, N.; Slomski, R.: The codon 408 mutation associated with haplotype 2 is predominant in Polish families with phenylketonuria. Hum. Genet. 86: 247-250, 1991. 108. Jaruzelska, J.; Melle, D.; Matuszak, R.; Borski, K.; Munnich, A.: A new 15 bp deletion in exon 11 of the phenylalanine hydroxylase gene in phenylketonuria. Hum. Molec. Genet. 1: 763-764, 1992. 109. Jervis, G. A.: Phenylpyruvic oligophrenia deficiency of phenylalanine-oxidizing system. Proc. Soc. Exper. Biol. Med. 82: 514-515, 1953. 110. Jervis, G. A.: Studies on phenylpyruvic oligophrenia: the position of the metabolic error. J. Biol. Chem. 169: 651-656, 1947. 111. John, S. W. M.; Rozen, R.; Laframboise, R.; Laberge, C.; Scriver, C. R.: Five mutations at the PAH locus account for almost 90% of PKU mutations in French-Canadians from eastern Quebec. Hum. Mutat. 1: 72-74, 1992. 112. John, S. W. M.; Rozen, R.; Laframboise, R.; Laberge, C.; Scriver, C. R.: Novel PKU mutation on haplotype 2 in French-Canadians. Am. J. Hum. Genet. 45: 905-909, 1989. 113. John, S. W. M.; Rozen, R.; Scriver, C. R.; Laframboise, R.; Laberge, C.: Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: evidence in French-Canadians and a catalog of mutations. Am. J. Hum. Genet. 46: 970-974, 1990. 114. John, S. W. M.; Scriver, C. R.; Laframboise, R.; Rozen, R.: In vitro and in vivo correlations for I65T and M1V mutations at the phenylalanine hydroxylase locus. Hum. Mutat. 1: 147-153, 1992. 115. Justice, M. J.; Siracusa, L. D.; Gilbert, D. J.; Heisterkamp, N.; Groffen, J.; Chada, K.; Silan, C. M.; Copeland, N. G.; Jenkins, N. A.: A genetic linkage map of mouse chromosome 10: localization of eighteen molecular markers using a single interspecific backcross. Genetics 125: 855-866, 1990. 116. Kalanin, J.; Takarada, Y.; Kagawa, S.; Yamashita, K.; Ohtsuka, N.; Matsuoka, A.: Gypsy phenylketonuria: a point mutation of the phenylalanine hydroxylase gene in gypsy families from Slovakia. Am. J. Med. Genet. 49: 235-239, 1994. 117. Kalaydjieva, L.; Dworniczak, B.; Aulehla-Scholz, C.; Devoto, M.; Romeo, G.; Sturhmann, M.; Kucinskas, V.; Yurgelyavicius, V.; Horst, J.: Silent mutations in the phenylalanine hydroxylase gene as an aid to the diagnosis of phenylketonuria. J. Med. Genet. 28: 686-690, 1991. 118. Kalaydjieva, L.; Dworniczak, B.; Aulehla-Scholz, C.; Kremensky, I.; Bronzova, J.; Eigel, A.; Horst, J.: Classical phenylketonuria in Bulgaria: RFLP haplotypes and frequency of the major mutations. J. Med. Genet. 27: 742-745, 1990. 119. Kalaydjieva, L.; Dworniczak, B.; Kucinskas, V.; Yurgeliavicius, V.; Kunert, E.; Horst, J.: Geographical distribution gradients of the major PKU mutations and the linked haplotypes. Hum. Genet. 86: 411-413, 1991. 120. Kamaryt, J.; Mrskos, A.; Podhradska, O.; Kolcova, V.; Cabalska, B.; Duzynska, N.; Borzymowska, J.: PKU locus: genetic linkage with human amylase (AMY) loci and assignment to linkage group 1. Hum. Genet. 43: 205-210, 1978. 121. Kaufman, S.: Phenylketonuria: biochemical mechanisms. Adv. Neurochem. 2: 1-132, 1976. 122. Kaufman, S.: A model of human phenylalanine metabolism in normal subjects and in phenylketonuric patients. Proc. Nat. Acad. Sci. 96: 3160-3164, 1999. 123. Kaufman, S.: Differential diagnosis of variant forms of hyperphenylalaninemia. Pediatrics 65: 840-842, 1980. 124. Kaufman, S.; Fisher, D. B.: Purification and some physical properties of phenylalanine hydroxylase from rat liver. J. Biol. Chem. 245: 4745-4750, 1970. 125. Kaufman, S.; Max, E. E.; Kang, E. S.: Phenylalanine hydroxylase activity in liver biopsies from hyperphenylalaninemia heterozygotes: deviation from proportionality with gene dosage. Pediat. Res. 9: 632-634, 1975. 126. Kawashima, H.; Kawano, M.; Masaki, A.; Sato, T.: Three cases of untreated classical PKU: a report on cataracts and brain calcification. Am. J. Med. Genet. 29: 89-93, 1988. 127. Kerr, G. R.; Chamove, A. S.; Harlow, H. F.; Waisman, H. A.: 'Fetal PKU': the effect of maternal hyperphenylalaninemia during pregnancy in the rhesus monkey (Macaca mulatta). Pediatrics 42: 27-36, 1968. 128. Kidd, K. K.: Phenylketonuria: population genetics of a disease. Nature 327: 282-283, 1987. 129. Kleiman, S.; Vanagaite, L.; Bernstein, J.; Schwartz, G.; Brand, N.; Elitzur, A.; Woo, S. L. C.; Shiloh, Y.: Phenylketonuria: variable phenotypic outcomes of the R261Q mutation and maternal PKU in the offspring of a healthy homozygote. J. Med. Genet. 30: 284-288, 1993. 130. Knapp, A.; Tintschewa, R.; Scheibe, E.; Schiebe, E.; Jager, B.; Biebler, K. E.: The genetic linkage between the PKU locus and the loci for amylase-1, amylase-2, Fy, PGM-1, and Rh and the question of assignment of the PKU locus to chromosome no. 1. Hum. Genet. 60: 122-125, 1982. 131. Knappskog, P. M.; Eiken, H. G.; Martinez, A.; Flatmark, T.; Apold, J.: The PKU mutation S349P causes complete loss of catalytic activity in the recombinant phenylalanine hydroxylase enzyme. Hum. Genet. 95: 171-173, 1995. 132. Koch, R.; Moats, R.; Guttler, F.; Guldberg, P.; Nelson, M., Jr. : Blood-brain phenylalanine relationships in persons with phenylketonuria. Pediatrics 106: 1093-1096, 2000. 133. Komrower, G. M.; Sardharwalla, I. B.; Coutts, J. M. J.; Ingham, D.: Management of maternal phenylketonuria: an emerging clinical problem. Brit. Med. J. I: 1383-1387, 1979. 134. Konecki, D. S.; Lichter-Konecki, U.: The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations. Hum. Genet. 87: 377-388, 1991. 135. Konecki, D. S.; Schlotter, M.; Trefz, F. K.; Lichter-Konecki, U.: The identification of two mis-sense mutations at the PAH gene locus in a Turkish patient with phenylketonuria. Hum. Genet. 87: 389-393, 1991. 136. Kwok, S. C. M.; Ledley, F. D.; DiLella, A. G.; Robson, K. J. H.; Woo, S. L. C.: Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase. Biochemistry 24: 556-561, 1985. 137. Labrune, P.; Melle, D.; Rey, F.; Berthelon, M.; Caillaud, C.; Rey, J.; Munnich, A.; Lyonnet, S.: Single-strand conformation polymorphism for detection of mutations and base substitutions in phenylketonuria. Am. J. Hum. Genet. 48: 1115-1120, 1991. 138. Lasala, J. M.; Coscia, C. J.: Accumulation of a tetrahydroisoquinoline in phenylketonuria. Science 203: 283-284, 1979. 139. Leandro, P.; Rivera, I.; Ribeiro, V.; de Almeida, I. T.; da Silveira, C.; Lechner, M. C.: Mutation analysis of phenylketonuria in South and Central Portugal: prevalence of V388M mutation. Hum. Mutat. 6: 192-194, 1995. 140. Ledbetter, S. A.; Ledbetter, D. H.; Ledley, F. D.; Woo, S.: Localization of phenylalanine hydroxylase (PAH) and alpha-1 antitrypsin (AAT) loci in mouse genome by synteny and in situ hybridization. (Abstract) Am. J. Hum. Genet. 41: A173 only, 1987. 141. Ledley, F. D.; DiLella, A. G.; Woo, S. L. C.: Molecular biology of phenylalanine hydroxylase and phenylketonuria. Trends Genet. 1: 309-313, 1985. 142. Ledley, F. D.; Grenett, H. E.; DiLella, A. G.; Kwok, S. C. M.; Woo, S. L. C.: Gene transfer and expression of human phenylalanine hydroxylase. Science 228: 77-79, 1985. 143. Ledley, F. D.; Grenett, H. E.; McGinnis-Shelnutt, M.; Woo, S. L. C.: Retroviral-mediated gene transfer of human phenylalanine hydroxylase into NIH 3T3 and hepatoma cells. Proc. Nat. Acad. Sci. 83: 409-413, 1986. 144. Ledley, F. D.; Koch, R.; Jew, K.; Beaudet, A.; O'Brien, W. E.; Bartos, D. P.; Woo, S. L. C.: Phenylalanine hydroxylase expression in liver of a fetus with phenylketonuria. J. Pediat. 113: 463-468, 1988. 145. Ledley, F. D.; Levy, H. L.; Woo, S. L. C.: Molecular analysis of the inheritance of phenylketonuria and mild hyperphenylalaninemia in families with both disorders. New Eng. J. Med. 314: 1276-1280, 1986. 146. Lenke, R. R.; Levy, H. L.: Maternal phenylketonuria and hyperphenylalaninemia: an international survey of the outcome of untreated and treated pregnancies. New Eng. J. Med. 303: 1202-1208, 1980. 147. Leuzzi, V.; Bianchi, M. C.; Tosetti, M.; Carducci, C.; Carducci, C.; Antonozzi, I.: Clinical significance of brain phenylalanine concentration assessed by in vivo proton magnetic resonance spectroscopy in phenylketonuria. J. Inherit. Metab. Dis. 23: 563-570, 2000. 148. Levy, H. L.: Molecular genetics of phenylketonuria and its implications. (Editorial) Am. J. Hum. Genet. 45: 667-670, 1989. 149. Levy, H. L.; Guldberg, P.; Guttler, F.; Hanley, W. B.; Matalon, R.; Rouse, B. M.; Trefz, F.; Azen, C.; Allred, E. N.; de la Cruz, F.; Koch, R.: Congenital heart disease in maternal phenylketonuria: report from the Maternal PKU Collaborative Study. Pediat. Res. 49: 636-642, 2001. 150. Levy, H. L.; Karolkewicz, V.; Houghton, S. A.; MacCready, R. A.: Screening the 'normal' population in Massachusetts for phenylketonuria. New Eng. J. Med. 282: 1455-1458, 1970. 151. Levy, H. L.; Lobbregt, D.; Barnes, P. D.; Poussaint, T. Y.: Maternal phenylketonuria: magnetic resonance imaging of the brain in offspring. J. Pediat. 128: 770-775, 1996. 152. Levy, H. L.; Waisbren, S. E.: Effects of untreated maternal phenylketonuria and hyperphenylalaninemia on the fetus. New Eng. J. Med. 309: 1269-1274, 1983. 153. Li, J.; Eisensmith, R. C.; Wang, T.; Lo, W. H. Y.; Huang, S.-Z.; Zeng, Y.-T.; Yuan, L.-F.; Liu, S.-R.; Woo, S. L. C.: Identification of three novel missense PKU mutations among Chinese. Genomics 13: 894-895, 1992. 154. Lichter-Konecki, U.; Konecki, D. S.; DiLella, A. G.; Brayton, K.; Marvit, J.; Hahn, T. M.; Trefz, F. K.; Woo, S. L. C.: Phenylalanine hydroxylase deficiency caused by a single base substitution in an exon of the human phenylalanine hydroxylase gene. Biochemistry 27: 2881-2885, 1988. 155. Lidsky, A. S.; Guttler, F.; Woo, S. L. C.: Prenatal diagnosis of classic phenylketonuria by DNA analysis. Lancet I: 549-551, 1985. 156. Lidsky, A. S.; Law, M. L.; Morse, H. G.; Kao, F.-T.; Rabin, M.; Ruddle, F. H.; Woo, S. L. C.: Regional mapping of the phenylalanine hydroxylase gene and the phenylketonuria locus in the human genome. Proc. Nat. Acad. Sci. 82: 6221-6225, 1985. 157. Lidsky, A. S.; Ledley, F. D.; DiLella, A. G.; Kwok, S. C. M.; Daiger, S. P.; Robson, K. J. H.; Woo, S. L. C.: Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria. Am. J. Hum. Genet. 37: 619-634, 1985. 158. Lidsky, A. S.; Robson, K. J. H.; Thirumalachary, C.; Barker, P. E.; Ruddle, F. H.; Woo, S. L. C.: The PKU locus in man is on chromosome 12. Am. J. Hum. Genet. 36: 527-533, 1984. 159. Lin, C.-H.; Hsiao, K.-J.; Tsai, T.-F.; Chao, H.-K.; Su, T.-S. : Identification of a missense phenylketonuria mutation at codon 408 in Chinese. Hum. Genet. 89: 593-596, 1992. 160. Liu, S. R.; Zuo, Q. H.: Newborn screening for phenylketonuria in eleven districts. Chinese Med. J. 99: 113-118, 1986. 161. Lyonnet, S.; Caillaud, C.; Rey, F.; Berthelon, M.; Frezal, J.; Rey, J.; Munnich, A.: Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency. Am. J. Hum. Genet. 44: 511-517, 1989. 162. Lyonnet, S.; Melle, D.; de Braekeleer, M.; Laframboise, R.; Rey, F.; John, S. W. M.; Berthelon, M.; Berthelot, J.; Journel, H.; Le Marec, B.; Parent, P.; de Parscau, L.; Saudubray, J.-M.; Rozen, R.; Rey, J.; Munnich, A.; Scriver, C. R.: Time and space clusters of the French-Canadian M1V phenylketonuria mutation in France. Am. J. Hum. Genet. 51: 191-196, 1992. 163. Marvit, J.; DiLella, A. G.; Brayton, K.; Ledley, F. D.; Robson, K. J. H.; Woo, S. L. C.: GT to AT transition at a splice donor site causes skipping of the preceding exon in phenylketonuria. Nucleic Acids Res. 15: 5613-5628, 1987. 164. Matalon, R.; Justice, P.; Deanching, M. N.: Phenylalanine hydroxylase in human placenta: novel system for study of phenylketonuria. (Letter) Lancet I: 853-854, 1977. 165. McDonald, J. D.; Bode, V. C.; Dove, W. F.; Shedlovsky, A.: Pah(hph-5): a mouse mutant deficient in phenylalanine hydroxylase. Proc. Nat. Acad. Sci. 87: 1965-1967, 1990. 166. McDonald, J. D.; Charlton, C. K.: Characterization of mutations at the mouse phenylalanine hydroxylase locus. Genomics 39: 402-405, 1997. 167. Melle, D.; Verelst, P.; Rey, F.; Berthelon, M.; Francois, B.; Munnich, A.; Lyonnet, S.: Two distinct mutations at a single BamHI site in phenylketonuria. J. Med. Genet. 28: 38-40, 1991. 168. Menkes, J. H.; Aeberhard, E.: Maternal phenylketonuria. J. Pediat. 74: 924-931, 1969. 169. Murphey, R. M.: Phenylketonuria (PKU) and the single gene: an old story retold. Behav. Genet. 13: 141-157, 1983. 170. Nowacki, P.; Byck, S.; Prevost, L.; Scriver, C. R.: The PAH mutation analysis consortium database: update 1996. Nucleic Acids Res. 25: 139-142, 1997. 171. Nyhan, W. L.: Fifty years ago: Asbjorn Folling and phenylketonuria. Trends Biochem. Sci. 9: 71-72, 1984. 172. O'Connell, P.; Leppert, M.; Hoff, M.; Kumlin, E.; Thomas, W.; Cai, G.; Law, M.; White, R.: A linkage map for human chromosome 12. (Abstract) Am. J. Hum. Genet. 37: A169 only, 1985. 173. O'Flynn, M. E.; Tillman, P.; Hsia, D. Y.-Y.: Hyperphenylalaninemia without phenylketonuria. Am. J. Dis. Child. 113: 22-30, 1967. 174. Okano, Y.; Asada, M.; Kang, Y.; Nishi, Y.; Hase, Y.; Oura, T.; Isshiki, G.: Molecular characterization of phenylketonuria in Japanese patients. Hum. Genet. 103: 613-618, 1998. 175. Okano, Y.; Eisensmith, R. C.; Dasovich, M.; Wang, T.; Guttler, F.; Woo, S. L. C.: A prevalent missense mutation in Northern Europe associated with hyperphenylalaninaemia. Europ. J. Pediat. 150: 347-352, 1991. 176. Okano, Y.; Wang, T.; Eisensmith, R. C.; Guttler, F.; Woo, S. L. C.: Recurrent mutation in the human phenylalanine hydroxylase gene. Am. J. Hum. Genet. 46: 919-924, 1990. 177. Okano, Y.; Wang, T.; Eisensmith, R. C.; Longhi, R.; Riva, E.; Giovannini, M.; Cerone, R.; Romano, C.; Woo, S. L. C.: Phenylketonuria missense mutations in the Mediterranean. Genomics 9: 96-103, 1991. 178. Okano, Y.; Wang, T.; Eisensmith, R. C.; Steinmann, B.; Gitzelmann, R.; Woo, S. L. C.: Missense mutations associated with RFLP haplotypes 1 and 4 of the human phenylalanine hydroxylase gene. Am. J. Hum. Genet. 46: 18-25, 1990. 179. Okano, Y.; Wang, T.; Eisensmith, R. C.; Woo, S. L. C.: PKU mutations among Caucasians. (Abstract) Am. J. Hum. Genet. 45: A211 only, 1989. 180. Paine, R. S.: The variability in manifestations of untreated patients with phenylketonuria (phenylpyruvic aciduria). Pediatrics 20: 290-302, 1957. 181. Paul, T. D.; Brandt, I. K.; Elsas, L. J.; Jackson, C. E.; Mamunes, P.; Nance, C. S.; Nance, W. E.: Phenylketonuria heterozygote detection in families with affected children. Am. J. Hum. Genet. 30: 293-301, 1978. 182. Paul, T. D.; Brandt, I. K.; Elsas, L. J.; Jackson, C. E.; Nance, C. S.; Nance, W. E.: Linkage analysis using heterozygote detection in phenylketonuria. Clin. Genet. 16: 217-232, 1979. 183. Perez, B.; Desviat, L. R.; Die, M.; Cornejo, V.; Chamoles, N. A.; Nicolini, H.; Ugarte, M.: Presence of the Mediterranean PKU mutation IVS10 in Latin America. Hum. Molec. Genet. 2: 1289-1290, 1993. 184. Perez, B.; Desviat, L. R.; Die, M.; Ugarte, M.: Mutation analysis of phenylketonuria in Spain: prevalence of two Mediterranean mutations. Hum. Genet. 89: 341-342, 1992. 185. Perry, T. L.; Hansen, S.; Tischler, B.; Bunting, R.; Diamond, S.: Glutamine depletion in phenylketonuria: possible cause of the mental defect. New Eng. J. Med. 282: 761-766, 1970. 186. Pitt, D. B.; O'Day, J.: Phenylketonuria does not cause cataracts. Europ. J. Pediat. 150: 661-664, 1991. 187. Ramus, S. J.; Forrest, S. M.; Cotton, R. G. H.: Illegitimate transcription of phenylalanine hydroxylase for detection of mutations in patients with phenylketonuria. Hum. Mutat. 1: 154-158, 1992. 188. Ramus, S. J.; Forrest, S. M.; Saleeba, J. A.; Cotton, R. G. H. : CpG hotspot causes second mutation in codon 408 of the phenylalanine hydroxylase gene. Hum. Genet. 90: 147-148, 1992. 189. Rao, D. C.; Keats, B. J.; Lalouel, J. M.; Morton, N. E.; Yee, S.: A maximum likelihood map of chromosome 1. Am. J. Hum. Genet. 31: 680-696, 1979. 190. Rey, F.; Berthelon, M.; Caillaud, C.; Lyonnet, S.; Abadie, V.; Blandin-Savoja, F.; Feingold, J.; Saudubray, J.-M.; Frezal, J.; Munnich, A.; Rey, J.: Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France. Am. J. Hum. Genet. 43: 914-921, 1988. 191. Riess, O.; Michel, A.; Speer, A.; Cobet, G.; Coutelle, C.: Introduction of genomic diagnosis of classical phenylketonuria to the health care system of the German Democratic Republic. Clin. Genet. 32: 209-215, 1987. 192. Rohr, F. J.; Doherty, L. B.; Waisbren, S. E.; Bailey, I. V.; Ampola, M. G.; Benacerraf, B.; Levy, H. L.: New England maternal PKU project: prospective study of untreated and treated pregnancies and their outcomes. J. Pediat. 110: 391-398, 1987. 193. Romeo, G.; Menozzi, P.; Ferlini, A.; Prosperi, L.; Cerone, R.; Scalisi, S.; Romano, C.; Antonozzi, I.; Riva, E.; Piceni Sereni, L.; Zammarchi, E.; Lenzi, G.; Sartorio, R.; Andria, G.; Cioni, M.; Fois, A.; Burroni, M.; Burlina, A. B.; Carnevale, F.: Incidence of classic PKU in Italy estimated from consanguineous marriages and from neonatal screening. Clin. Genet. 24: 339-345, 1983. 194. Rosenblatt, D. S.; Scriver, C. R.: Heterogeneity in genetic control of phenylalanine metabolism in man. Nature 218: 677-678, 1968. 195. Rouse, B.; Azen, C.; Koch, R.; Matalon, R.; Hanley, W.; de la Cruz, F.; Trefz, F.; Friedman, E.; Shifrin, H.: Maternal phenylketonuria collaborative study (MPKUCS) offspring: facial anomalies, malformations, and early neurological sequelae. Am. J. Med. Genet. 69: 89-95, 1997. 196. Rouse, B.; Matalon, R.; Koch, R.; Azen, C.; Levy, H.; Hanley, W.; Trefz, F.; de la Cruz, F.: Maternal phenylketonuria syndrome: congenital heart defects, microcephaly, and developmental outcomes. J. Pediat. 136: 57-61, 2000. 197. Sarkissian, C. N.; Shao, Z.; Blain, F.; Peevers, R.; Su, H.; Heft, R.; Chang, T. M. S.; Scriver, C. R.: A different approach to treatment of phenylketonuria: phenylalanine degradation with recombinant phenylalanine ammonia lyase. Proc. Nat. Acad. Sci. 96: 2339-2344, 1999. 198. Saugstad, L. F.: Frequency of phenylketonuria in Norway. Clin. Genet. 7: 40-51, 1975. 199. Saugstad, L. F.: Anthropological significance of phenylketonuria. Clin. Genet. 7: 52-61, 1975. 200. Scott, T. M.; Fyfe, W. M.; Hart, D. M.: Maternal phenylketonuria: abnormal baby despite low phenylalanine diet during pregnancy. Arch. Dis. Child. 55: 634-649, 1980. 201. Scriver, C. R.: Personal Communication. Montreal, Quebec, Canada 1974. 202. Scriver, C. R.; Clow, C. L.: Phenylketonuria and other phenylalanine hydroxylation mutants in man. Ann. Rev. Genet. 14: 179-202, 1980. 203. Scriver, C. R.; Clow, C. L.: Phenylketonuria: epitome of human biochemical genetics. New Eng. J. Med. 303: 1336-1342 and 1394-1400, 1980. 204. Scriver, C. R.; Eisensmith, R. C.; Woo, S. L. C.; Kaufman, S. : The hyperphenylalaninemias of man and mouse. Annu. Rev. Genet. 28: 141-165, 1994. 205. Scriver, C. R.; Gregory, D. M.; Sovetts, D.; Clow, C. L.; Tissenbaum, G.: Normal plasma free amino acid values in adults: the influence of some common physiological variables. Metabolism 34: 868-873, 1985. 206. Scriver, C. R.; Kaufman, S.; Woo, S. L. C.: The hyperphenylalaninemias.In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D.: The Metabolic Basis of Inherited Disease. New York: McGraw-Hill (pub.) (6th ed.) I: 1989. Pp. 495-546. 207. Shimizu, A.; Sakai, Y.; Ohno, K.; Masaki, S.; Kuwano, R.; Takahashi, Y.; Miyashita, N.; Watanabe, T.: A molecular genetic linkage map of mouse chromosome 10, including the Myb, S100b, Pah, Sl, and Ifg genes. Biochem. Genet. 30: 529-535, 1992. 208. Smith, C. B.; Kang, J.: Cerebral protein synthesis in a genetic mouse model of phenylketonuria. Proc. Nat. Acad. Sci. 97: 11014-11019, 2000. 209. Smith, I.; Macartney, F. J.; Erdohazi, M.; Pincott, J. R.; Wolff, O. H.; Brenton, D. P.; Biddle, S. A.; Fairweather, D. V. I.; Dobbing, J.: Fetal damage despite low-phenylalanine diet after conception in a phenylketonuric woman. Lancet I: 17-19, 1979. 210. Steffens, C.: No difference in dermatoglyphics of fingers and palms between phenylketonuria patients and controls. (Letter) Hum. Genet. 69: 195 only, 1985. 211. Stegink, L. D.; Filer, L. J., Jr.; Baker, G. L.; Bell, E. F.; Ziegler, E. E.; Brummel, M. C.; Krause, W. L.: Repeated ingestion of aspartame-sweetened beverage: effect on plasma amino acid concentrations in individuals heterozygous for phenylketonuria. Metabolism 38: 78-84, 1989. 212. Stuhrmann, M.; Riess, O.; Monch, E.; Kurdoglu, G.: Haplotype analysis of the phenylalanine hydroxylase gene in Turkish phenylketonuria families. Clin. Genet. 36: 117-121, 1989. 213. Superti-Furga, A.; Steinmann, B.; Duc, G.; Gitzelmann, R.: Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenylketonuria in their mothers homozygous for the phenylalanine hydroxylase arg261-to-gln mutation. Europ. J. Pediat. 150: 493-497, 1991. 214. Svensson, E.; Andersson, B.; Hagenfeldt, L.: Two mutations within the coding sequence of the phenylalanine hydroxylase gene. Hum. Genet. 85: 300-304, 1990. 215. Svensson, E.; Eisensmith, R. C.; Dworniczak, B.; von Dobeln, U.; Hagenfeldt, L.; Horst, J.; Woo, S. L. C.: Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12. Hum. Mutat. 1: 129-137, 1992. 216. Takahashi, K.; Kure, S.; Matsubara, Y.; Narisawa, K.: Novel phenylketonuria mutation detected by analysis of ectopically transcribed phenylalanine hydroxylase mRNA from lymphoblast. (Letter) Lancet 340: 1473 only, 1992. 217. Teebi, A. S.; Al-Awadi, S. A.; Farag, T. I.; Naguib, K. K.; El-Khalifa, M. Y.: Phenylketonuria in Kuwait and Arab countries. Europ. J. Pediat. 146: 59-60, 1987. 218. Thompson, A. J.; Tillotson, S.; Smith, I.; Kendall, B.; Moore, S. G.; Brenton, D. P.: Brain MRI changes in phenylketonuria: associations with dietary status. Brain 116: 811-821, 1993. 219. Tourian, A. Y.; Sidbury, J. B., Jr.: Phenylketonuria.In: Stanbury, J. B.; Wyngaarden, J. B.; Fredrickson, D. S.: Metabolic Basis of Inherited Disease. New York: McGraw-Hill (pub.) (4th ed.): 1978. Pp. 240-255. 220. Tsai, T.-F.; Hsiao, K.-J.; Su, T.-S.: Phenylketonuria mutation in Chinese haplotype 44 identical with haplotype 2 mutation in northern-European Caucasians. Hum. Genet. 84: 409-411, 1990. 221. Tyfield, L. A.; Meredith, A. L.; Osborn, M. J.; Harper, P. S. : Identification of the haplotype pattern associated with the mutant PKU allele in the Gypsy population of Wales. J. Med. Genet. 26: 499-503, 1989. 222. Tyfield, L. A.; Stephenson, A.; Cockburn, F.; Harvie, A.; Bidwell, J. L.; Wood, N. A. P.; Pilz, D. T.; Harper, P.; Smith, I.: Sequence variation at the phenylalanine hydroxylase gene in the British Isles. Am. J. Hum. Genet. 60: 388-396, 1997. 223. Ullrich, K.; Weglage, J.; Schuierer, G.; Funders, B.; Pietsch, M.; Koch, H. G.; Hahn-Ullrich, H.: Cranial MRI in PKU: evaluation of a critical threshold for blood phenylalanine. (Letter) Neuropediatrics 25: 278-279, 1994. 224. Usha, R.; Uma, R.; Farag, T. I.; Girish, Y.; Al-Ghanim, M. M. A.; Al-Najdi, K.; Al-Awadi, S. A.; El-Badramany, M. H.: Late diagnosis of phenylketonuria in a Bedouin mother. Am. J. Med. Genet. 44: 713-715, 1992. 225. Vajro, P.; Strisciuglio, P.; Houssin, D.; Huault, G.; Laurent, J.; Alvarez, F.; Bernard, O.: Correction of phenylketonuria after liver transplantation in a child with cirrhosis. (Letter) New Eng. J. Med. 329: 363 only, 1993. 226. van Spronsen, F. J.; Reijngoud, D.-J.; Smit, G. P. A.; Nagel, G. T.; Stellaard, F.; Berger, R.; Heymans, H. S. A.: Phenylketonuria: the in vivo hydroxylation rate of phenylalanine into tyrosine is decreased. J. Clin. Invest. 101: 2875-2880, 1998. 227. Waisbren, S. E.; Hanley, W.; Levy, H. L.; Shifrin, H.; Allred, E.; Azen, C.; Chang, P.-N.; Cipcic-Schmidt, S.; de la Cruz, F.; Hall, R.; Matalon, R.; Nanson, J.; Rouse, B.; Trefz, F.; Koch, R.: Outcome at age 4 years in offspring of women with maternal phenylketonuria: the maternal PKU collaborative study. J.A.M.A. 283: 756-762, 2000. 228. Wang, T.; Okano, Y.; Eisensmith, R.; Huang, S.-Z.; Zeng, Y.-T.; Lo, W. H. Y.; Woo, S. L. C.: Molecular genetics of phenylketonuria in Orientals: linkage disequilibrium between a termination mutation and haplotype 4 of the phenylalanine hydroxylase gene. Am. J. Hum. Genet. 45: 675-680, 1989. 229. Wang, T.; Okano, Y.; Eisensmith, R. C.; Fekete, G.; Schuler, D.; Berencsi, G.; Nasz, I.; Woo, S. L. C.: Molecular genetics of PKU in Eastern Europe: a nonsense mutation associated with haplotype 4 of the phenylalanine hydroxylase gene. Somat. Cell Molec. Genet. 16: 85-89, 1990. 230. Wang, T.; Okano, Y.; Eisensmith, R. C.; Harvey, M. L.; Lo, W. H. Y.; Huang, S.-Z.; Zeng, Y.-T.; Yuan, L.-F.; Furuyama, J.; Oura, T.; Sommer, S. S.; Woo, S. L. C.: Founder effect of a prevalent phenylketonuria mutation in the Oriental population. Proc. Nat. Acad. Sci. 88: 2146-2150, 1991. 231. Wang, T.; Okano, Y.; Eisensmith, R. C.; Lo, W. H. Y.; Huang, S.-Z.; Zeng, Y.-T.; Woo, S. L. C.: Identification of a novel phenylketonuria (PKU) mutation in the Chinese: further evidence for multiple origins of PKU in Asia. Am. J. Hum. Genet. 48: 628-630, 1991. 232. Wang, T.; Okano, Y.; Eisensmith, R. C.; Lo, W. H. Y.; Huang, S.-Z.; Zeng, Y.-T.; Yuan, L.-F.; Liu, S.-R.; Woo, S. L. C.: Identification of three novel PKU mutations among Chinese: evidence for recombination or recurrent mutation at the PAH locus. Genomics 13: 230-231, 1992. 233. Wang, T.; Okano, Y.; Eisensmith, R. C.; Lo, W. H. Y.; Huang, S.-Z.; Zeng, Y.-T.; Yuan, L.-F.; Liu, S.-R.; Woo, S. L. C.: Missense mutations prevalent in Orientals with phenylketonuria: molecular characterization and clinical implications. Genomics 10: 449-456, 1991. 234. Wang, T.; Woo, S. L. C.: Personal Communication. Houston, Tex. 1/20/1990. 235. Waters, P. J.; Parniak, M. A.; Akerman, B. R.; Scriver, C. R. : Characterization of phenylketonuria missense substitutions, distant from the phenylalanine hydroxylase active site, illustrates a paradigm for mechanism and potential modulation of phenotype. Molec. Genet. Metab. 69: 101-110, 2000. 236. Weglage, J.; Grenzebach, M.; Pietsch, M.; Feldmann, R.; Linnenbank, R.; Denecke, J.; Koch, H. G.: Behavioural and emotional problems in early-treated adolescents with phenylketonuria in comparison with diabetic patients and healthy controls. J. Inherit. Metab. Dis. 23: 487-496, 2000. 237. Weglage, J.; Pietsch, M.; Denecke, J.; Sprinz, A.; Feldmann, R.; Grenzebach, M.; Ullrich, K.: Regression of neuropsychological deficits in early-treated phenylketonurics during adolescence. J. Inherit. Metab. Dis. 22: 693-705, 1999. 238. Weinstein, M.; Eisensmith, R. C.; Abadie, V.; Avigad, S.; Lyonnet, S.; Schwartz, G.; Munnich, A.; Woo, S. L. C.; Shiloh, Y.: A missense mutation, S349P, completely inactivates phenylalanine hydroxylase in North African Jews with phenylketonuria. Hum. Genet. 90: 645-649, 1993. 239. Woo, S. L. C.: Personal Communication. Houston, Tex. 1/11/1983. 240. Woo, S. L. C.: Collation of RFLP haplotypes at the human phenylalanine hydroxylase (PAH) locus. (Letter) Am. J. Hum. Genet. 43: 781-783, 1988. 241. Woo, S. L. C.: Molecular basis and population genetics of phenylketonuria. Biochemistry 28: 1-7, 1989. 242. Woo, S. L. C.; Chandra, T.; Stackhouse, R.; Robson, K. J. H. : Analysis of phenylketonuria (PKU) by cloning and characterization of the human phenylalanine hydroxylase gene. (Abstract) Am. J. Hum. Genet. 34: 168A only, 1982. 243. Woo, S. L. C.; Lidsky, A.; Law, M.; Kao, F. T.: Regional mapping of the human phenylalanine hydroxylase gene and PKU locus to 12q21-qter. (Abstract) Am. J. Hum. Genet. 36: 210S only, 1984. 244. Woo, S. L. C.; Lidsky, A. S.; Guttler, F.; Chandra, T.; Robson, K. J. H.: Cloned human phenylalanine hydroxylase gene permits prenatal diagnosis and carrier detection of classical phenylketonuria. Nature 306: 151-155, 1983. 245. Woo, S. L. C.; Lidsky, A. S.; Guttler, F.; Thirumalachary, C.; Robson, K. J. H.: Prenatal diagnosis of classical phenylketonuria by gene mapping. J.A.M.A. 251: 1998-2002, 1984. 246. Woolf, L. I.: The heterozygote advantage in phenylketonuria. (Letter) Am. J. Hum. Genet. 38: 773-775, 1986. 247. Woolf, L. I.; Cranston, W. I.; Goodwin, B. L.: Genetics of phenylketonuria. I. Heterozygosity for phenylketonuria. II. Third allele at the phenylalanine hydroxylase locus in man. Nature 213: 882-885, 1967. 248. Woolf, L. I.; Goodwin, B. L.; Cranston, W. I.; Wade, D. N.; Woolf, F.; Hudson, F. P.; McBean, M. S.: A third allele at the phenylalanine-hydroxylase locus in mild phenylketonuria (hyperphenylalaninaemia). Lancet I: 114-117, 1968. 249. Woolf, L. I.; McBean, M. S.; Woolf, F. M.; Cahalane, S. F.: Phenylketonuria as a balanced polymorphism: the nature of the heterozygote advantage. Ann. Hum. Genet. 38: 461-469, 1975. 250. Yu, J. S.; O'Halloran, M. T.: Atypical phenylketonuria in a family with a phenylketonuric mother. Pediatrics 46: 707-711, 1970. 251. Zschocke, J.; Graham, C. A.; Stewart, F. J.; Carson, D. J.; Nevin, N. C.: Nonphenylketonuria hyperphenylalaninaemia in Northern Ireland: frequent mutation allows screening and early diagnosis. Hum. Mutat. 4: 114-118, 1994. 252. Zschocke, J.; Mallory, J. P.; Eiken, H. G.; Nevin, N. C.: Phenylketonuria and the peoples of Northern Ireland. Hum. Genet. 100: 189-194, 1997. 253. Zschocke, J.; Quak, E.; Knauer, A.; Fritz, B.; Aslan, M.; Hoffmann, G. F.: Large heterozygous deletion masquerading as homozygous missense mutation: a pitfall in diagnostic mutation analysis. J. Inherit. Metab. Dis. 22: 687-692, 1999. 254. Zygulska, M.; Eigel, A.; Aulehla-Scholz, C.; Pietrzyk, J. J.; Horst, J.: Molecular analysis of PKU haplotypes in the population of southern Poland. Hum. Genet. 86: 292-294, 1991. 255. Zygulska, M.; Eigel, A.; Dworniczak, B.; Sutkowska, A.; Pietrzyk, J. J.; Horst, J.: Phenylketonuria in Poland: 66% of PKU alleles are caused by three mutations. Hum. Genet. 88: 91-94, 1991.
[0033521]24109.Bessant, D. A. R.; Payne, A. M.; Plant, C.; Bird, A. C.; Bhattacharya, S. S.: Further refinement of the Usher 2A locus at 1q41. J. Med. Genet. 35: 773-774, 1998.
[0033522]24110.Konrad, M.; Saunier, S.; Heidet, L.; Silbermann, F.; Benessy, F.; Calado, J.; Le Paslier, D.; Broyer, M.; Gubler, M.-C.; Antignac, C.: Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis. Hum. Molec. Genet. 5: 367-371, 1996.
[0033523]24111.Degos, L.; Dautigny, A.; Brouet, J. C.; Colombani, M.; Ardaillou, N.; Caen, J. P.; Colombani, J.: A molecular defect in thrombasthenic platelets. J. Clin. Invest. 56: 236-240, 1975.
[0033524]24112.Djaffar, I.; Vilette, D.; Pidard, D.; Wautier, J.-L.; Rosa, J.-P. : Human platelet antigen 3 (HPA-3): localization of the determinant of the alloantibody Lek(a)(HPA-3a) to the C-terminus of platelet glycoprotein IIb heavy chain and contribution of O-linked carbohydrates. Thromb. Haemost. 69: 485-489, 1993.
[0033525]24113.Friedman, L. L.; Bowie, E. J. W.; Thompson, J. H., Jr.; Brown, A. L., Jr.; Owen, C. A., Jr.: Familial Glanzmann's thrombasthenia. Mayo Clin. Proc. 39: 908-918, 1964.
[0033526]24114.Giltay, J. C.; Leeksma, O. C.; Breederveld, C.; van Mourik, J. A.: Normal synthesis and expression of endothelial IIb/IIIa in Glanzmann's thrombasthenia. Blood 69: 809-812, 1987.
[0033527]24115.Grimaldi, C. M.; Chen, F.; Wu, C.; Weiss, H. J.; Coller, B. S.; French, D. L.: Glycoprotein IIb leu214pro mutation produces Glanzmann thrombasthenia with both quantitative and qualitative abnormalities in GPIIb/IIIa. Blood 91: 1562-1571, 1998.
[0033528]24116.Gross, R.; Gerok, W.; Lohr, G. W.; Vogell, W.; Waller, H. D.; Theopold, W.: Ueber die Natur der Thrombasthenie. Thrombopathie Glanzmann-Naegeli. Klin. Wschr. 38: 193-206, 1960.
[0033529]24117.Hathaway, W. E.: Bleeding disorders due to platelet dysfunction. Am. J. Dis. Child. 121: 127-134, 1971.
[0033530]24118.Herrmann, F. H.; Meyer, M.; Gogstad, G. O.; Solum, N. O.: Glycoprotein IIb-IIIa complex in platelets of patients and heterozygotes of Glanzmann's thrombasthenia. Thromb. Res. 32: 615-622, 1983.
[0033531]24119.Herrmann, F. H.; Meyer, M.; Ihle, E.: Protein and glycoprotein abnormalities in an unusual subtype of Glanzmann's thrombasthenia. Haemostasis 12: 337-344, 1982.
[0033532]24120.Kanska, B.; Niewiarowski, S.; Ostrowski, L.; Poplawski, A.; Prokopowicz, J.: Macrothrombocytic thrombopathia. Clinical, coagulation and hereditary aspects. Thromb. Diath. Haemorrh. 10: 88-100, 1963.
[0033533]24121.Karpatkin, S.; Weiss, H. J.: Deficiency of glutathione peroxidase associated with high levels of reduced glutathione in Glanzmann's thrombasthenia. New Eng. J. Med. 287: 1062-1066, 1972.
[0033534]24122.Kato, A.; Yamamoto, K.; Miyazaki, S.; Jung, S. M.; Moroi, M.; Aoki, N.: Molecular basis for Glanzmann's thrombasthenia (GT) in a compound heterozygote with glycoprotein IIb gene: a proposal for the classification of GT based on the biosynthetic pathway of glycoprotein IIb-IIIa complex. Blood 79: 3212-3218, 1992.
[0033535]24123.Khanduri, U.; Pulimood, R.; Sudarsanam, A.; Carman, R. H.; Jadhav, M.; Pereira, S.: Glanzmann's thrombasthenia: a review and report of 42 cases from South India. Thromb. Haemost. 46: 717-721, 1981.
[0033536]24124.Kunicki, T. J.; Aster, R. H.: Deletion of the platelet-specific alloantigen Pl(A1) from platelets in Glanzmann's thrombasthenia. J. Clin. Invest. 61: 1225-1231, 1978.
[0033537]24125.Lelong, J. C.: La thrombopathie de Glanzmann-Naegeli. Paris: R. Foulon et Cie. (pub.) 1960.
[0033538]24126.Levy, J. M.; Mayer, G.; Sacrez, R.; Ruff, R.; Francfort, J. J.; Rodier, L.: Thrombasthenie de Glanzmann-Naegeli: etude d'un groupe ethnique a forte endogamie. Ann. Pediat. 18: 129-137, 1971.
[0033539]24127.Luo, X. Y.; Bray, P. F.; Magenis, R. E.: Precise localization of the gene for platelet membrane glycoprotein IIb to 17q21.32 using structural rearrangements of chromosome 17. (Abstract) Cytogenet. Cell Genet. 51: 1036 only, 1989.
[0033540]24128.Marx, R.; Jean, G.: Studien zur Pathogenese der Thrombasthenie Glanzmann-Naegeli. Klin. Wschr. 40: 942-953, 1962.
[0033541]24129.McEver, R. P.; Baenziger, J. U.; Majerus, P. W.: Isolation and structural characterization of the polypeptide subunits of membrane glycoprotein IIb-IIIa from human platelets. Blood 59: 80-85, 1982.
[0033542]24130.McEver, R. P.; Baenziger, N. L.; Majerus, P. W.: Isolation and quantitation of the platelet membrane glycoprotein deficient in thrombasthenia using a monoclonal hybridoma antibody. J. Clin. Invest. 66: 1311-1318, 1980.
[0033543]24131.Meyer, M.; Herrmann, F. H.: Diversity of glycoprotein deficiencies in Glanzmann's thrombasthenia. Thromb. Haemost. 54: 626-629, 1985.
[0033544]24132.Moser, K.; Lechner, K.; Vinazzer, H.: A hitherto not described enzyme defect in thrombasthenia: glutathione reductase deficiency. Thromb. Diath. Haemorrh. 19: 46-52, 1968.
[0033545]24133.Nachman, R. L.: Thrombasthenia: immunologic evidence of a platelet protein abnormality. J. Lab. Clin. Med. 67: 411-419, 1966.
[0033546]24134.Newman, P. J.: Platelet GPIIb-IIIa: molecular variations and alloantigens. Thromb. Haemost. 66: 111-118, 1991.
[0033547]24135.Nurden, A. T.; Caen, J. P.: An abnormal platelet glycoprotein pattern in three cases of Glanzmann's thrombasthenia. Brit. J. Haemat. 28: 253-260, 1974.
[0033548]24136.Eisensmith, R. C.; Woo, S. L. C.: Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene. Hum. Mutat. 1: 13-23, 1992.
[0033549]24137.Eisensmith, R. C.; Woo, S. L. C.: Updated listing of haplotypes at the human phenylalanine hydroxylase (PAH) locus. (Letter) Am. J. Hum. Genet. 51: 1445-1448, 1992.
[0033550]24138.Eisensmith, R. C.; Woo, S. L. C.: Gene therapy for phenylketonuria. Europ. J. Pediat. 155 (suppl. 1): S16-S19, 1996.
[0033551]24139.Fisch, R. O.; Tagatz, G.; Stassart, J. P.: Gestational carrier--a reproductive haven for offspring of mothers with phenylketonuria (PKU): an alternative therapy for maternal PKU. J. Inherit. Metab. Dis. 16: 957-961, 1993.
[0033552]24140.Flatz, G.; Oelbe, M.; Herrmann, H.: Ethnic distribution of phenylketonuria in the north German population. Hum. Genet. 65: 396-399, 1984.
[0033553]24141.Folling, A.: Ueber Ausscheidung von Phenylbrenztraubensaeure in den Harn als Stoffwechselanomalie in Verbindung mit Imbezillitaet. Ztschr. Physiol. Chem. 227: 169-176, 1934.
[0033554]24142.Forrest, S. M.; Dahl, H. H.; Howells, D. W.; Dianzani, I.; Cotton, R. G. H.: Mutation detection in phenylketonuria by using chemical cleavage of mismatch: importance of using probes from both normal and patient samples. Am. J. Hum. Genet. 49: 175-183, 1991.
[0033555]24143.Frankenburg, W. K.; Duncan, B. R.; Coffelt, R. W.; Koch, R.; Coldwell, J. G.; Son, C. D.: Maternal phenylketonuria: implications for growth and development. J. Pediat. 73: 560-570, 1968.
[0033556]24144.Friedman, P. A.; Fisher, D. B.; Kang, E. S.; Kaufman, S.: Detection of hepatic phenylalanine 4-hydroxylase in classical phenylketonuria. Proc. Nat. Acad. Sci. 70: 552-556, 1973.
[0033557]24145.Gjetting, T.; Petersen, M.; Guldberg, P.; Guttler, F.: Missense mutations in the Nterminal domain of human phenylalanine hydroxylase interfere with binding of regulatory phenylalanine. Am. J. Hum. Genet. 68: 1353-1360, 2001.
[0033558]24146.Greeves, L. G.; Patterson, C. C.; Carson, D. J.; Thom, R.; Wolfenden, M. C.; Zshocke, J.; Graham, C. A.; Nevin, N. C.; Trimble, E. R.: Effect of genotype on changes in intelligence quotient after dietary relaxation in phenylketonuria and hyperphenylalaninaemia. Arch. Dis. Child. 82: 216-221, 2000.
[0033559]24147.Gregory, D. M.; Sovetts, D.; Clow, C. L.; Scriver, C. R.: Plasma free amino acid values in normal children and adolescents. Metabolism 35: 967-969, 1986.
[0033560]24148.Griffiths, P. V.; Demellweek, C.; Fay, N.; Robinson, P. H.; Davidson, D. C.: Wechsler subscale IQ and subtest profile in early treated phenylketonuria. Arch. Dis. Child. 82: 209-215, 2000.
[0033561]24149.Guldberg, P.; Henriksen, K. F.; Sipila, I.; Guttler, F.; de la Chapelle, A.: Phenylketonuria in a low incidence population: molecular characterization of mutations in Finland. J. Med. Genet. 32: 976-978, 1995.
[0033562]24150.Guldberg, P.; Henriksen, K. F.; Thony, B.; Blau, N.; Guttler, F.: Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients. Genomics 21: 453-455, 1994.
[0033563]24151.Guldberg, P.; Lou, H. C.; Henriksen, K. F.; Mikkelsen, I.; Olsen, B.; Holck, B.; Guttler, F.: A novel missense mutation in the phenylalanine hydroxylase gene of a homozygous Pakistani patient with non-PKU hyperphenylalaninemia. Hum. Molec. Genet. 2: 1061-1062, 1993.
[0033564]24152.Guldberg, P.; Zschocke, J.; Dagbjartsson, A.; Henriksen, K. F.; Guttler, F.: A molecular survey of phenylketonuria in Iceland: identification of a founding mutation and evidence of predominant Norse settlement. Europ. J. Hum. Genet. 5: 376-381, 1997.
[0033565]24153.Guthrie, R.: The introduction of newborn screening for phenylketonuria: a personal history. Europ. J. Pediat. 155 (suppl. 1): 4-5, 1996.
[0033566]24154.Guthrie, R.; Susi, A.: A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 32: 338-343, 1963.
[0033567]24155.Guldberg, P.; Rey, F.; Zschocke, J.; Romano, V.; Francois, B.; Michiels, L.; Ullrich, K.; Hoffmann, G. F.; Burgard, P.; Schmidt, H.; Meli, C.; Riva, E.; Dianzani, I.; Ponzone, A.; Rey, J.; Guttler, F.: A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype. Am. J. Hum. Genet. 63: 71-79, 1998.
[0033568]24156.Guttler, F.: Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood. Acta Paediat. Scand. 280 (suppl.): 1-80, 1980.
[0033569]24157.Guttler, F.; Azen, C.; Guldberg, P.; Romstad, A.; Hanley, W. B.; Levy, H. L.; Matalon, R.; Rouse, B. M.; Trefz, F.; de la Cruz, F.; Koch, R.: Relationship among genotype, biochemical phenotype, and cognitive performance in females with phenylalanine hydroxylase deficiency: report from the maternal phenylketonuria collaborative study. Pediatrics 104: 258-262, 1999.
[0033570]24158.Guttler, F.; Hansen, G.: Heterozygote detection in phenylketonuria. Clin. Genet. 11: 137-146, 1977.
[0033571]24159.Guttler, F.; Ledley, F. D.; Lidsky, A. S.; DiLella, A. G.; Sullivan, S. E.; Woo, S. L. C.: Correlation between polymorphic DNA haplotypes at phenylalanine hydroxylase locus and clinical phenotypes of phenylketonuria. J. Pediat. 110: 68-71, 1987.
[0033572]24160.Guttler, F.; Woo, S. L. C.: Molecular genetics of PKU. J. Inherit. Metab. Dis. 9 (suppl. 1): 58-68, 1986.
[0033573]24161.Hanley, W. B.; Clarke, J. T. R.; Schoonheyt, W.: Maternal phenylketonuria (PKU)--a review. Clin. Biochem. 20: 149-156, 1987.
[0033574]24162.Hanley, W. B.; Koch, R.; Levy, H. L.; Matalon, R.; Rouse, B.; Azen, C.; de la Cruz, F.: The North American Maternal Phenylketonuria Collaborative Study, developmental assessment of the offspring: preliminary report. Europ. J. Pediat. 155 (suppl. 1): 169-172, 1996.
[0033575]24163.Hanley, W. B.; Lee, A. W.; Hanley, A. J. G.; Lehotay, D. C.; Austin, V. J.; Schoonheyt, W. E.; Platt, B. A.; Clarke, J. T. R.: 'Hypotyrosinemia' in phenylketonuria. Molec. Genet. Metab. 69: 286-294, 2000.
[0033576]24164.Hertzberg, M.; Jahromi, K.; Ferguson, V.; Dahl, H. H. M.; Mercer, J.; Mickleson, K. N. P.; Trent, R. J.: Phenylalanine hydroxylase gene haplotypes in Polynesians: evolutionary origins and absence of alleles associated with severe phenylketonuria. Am. J. Hum. Genet. 44: 382-387, 1989.
[0033577]24165.Hoang, L.; Byck, S.; Prevost, L.; Scriver, C. R.: PAH Mutation Analysis Consortium Database: a database for disease-producing and other allelic variation at the human PAH locus. Nucleic Acids Res. 24: 127-131, 1996.
[0033578]24166.Hofman, K. J.; Steel, G.; Kazazian, H. H.; Valle, D.: Phenylketonuria in U.S. blacks: molecular analysis of the phenylalanine hydroxylase gene. Am. J. Hum. Genet. 48: 791-798, 1991.
[0033579]24167.Garland, D.; Rao, P. V.; Del Corso, A.; Mura, U.; Zigler, J. S., Jr.: Zeta-crystallin is a major protein in the lens of Camelus dromedarius. Arch. Biochem. Biophys. 285: 134-136, 1991.
[0033580]24168.Gonzalez, P.; Rao, P. V.; Zigler, J. S., Jr.: Organization of the human zetacrystallin/ quinone reductase gene (CRYZ). Genomics 21: 317-324, 1994.
[0033581]24169.Heinzmann, C.; Kojis, T. L.; Gonzalez, P.; Rao, P. V.; Zigler, J. S., Jr.; Polymeropoulos, M. H.; Klisak, I.; Sparkes, R. S.; Mohandas, T.; Bateman, J. B.: Assignment of the zetacrystallin gene (CRYZ) to human chromosome 1p22-p31 and identification of restriction fragment length polymorphisms. Genomics 23: 403-407, 1994.
[0033582]24170.Huang, Q.-L.; Russell, P.; Stone, S. H.; Zigler, J. S., Jr.: Zeta-crystallin, a novel lens protein from the guinea pig. Curr. Eye Res. 6: 725-732, 1987.
[0033583]24171.Rodriguez, I. R.; Gonzalez, P.; Zigler, J. S., Jr.; Borras, T. : A guinea-pig hereditary cataract contains a splice site deletion in a crystallin gene. Biochim. Biophys. Acta 1180: 44-52, 1992.
[0033584]24172.Morrison, N. A.; Yeoman, R.; Kelly, P. J.; Eisman, J. A.: Contribution of trans-acting factor alleles to normal physiological variability: vitamin D receptor gene polymorphisms and circulating osteocalcin. Proc. Nat. Acad. Sci. 89: 6665-6669, 1992.
[0033585]24173.Pan, L. C.; Price, P. A.: The propeptide of rat bone gamma-carboxyglutamic acid protein shares homology with other vitamin K-dependent protein precursors. Proc. Nat. Acad. Sci. 82: 6109-6113, 1985.
[0033586]24174.Puchacz, E.; Lian, J. B.; Stein, G. S.; Wozney, J.; Huebner, K.; Croce, C.: Chromosomal localization of the human osteocalcin gene. Endocrinology 124: 2648-2650, 1989.
[0033587]24175.Tabas, J. A.; Zasloff, M.; Wasmuth, J. J.; Emanuel, B. S.; Altherr, M. R.; McPherson, J. D.; Wozney, J. M.; Kaplan, F. S.: Bone morphogenetic protein: chromosomal localization of human genes for BMP1, BMP2A, and BMP3. Genomics 9: 283-289, 1991.
[0033588]24176.Wozney, J. M.; Rosen, V.; Celeste, A. J.; Mitsock, L. M.; Whitters, M. J.; Kriz, R. W.; Hewick, R. M.; Wang, E. A.: Novel regulators of bone formation: molecular clones and activities. Science 242: 1528-1534, 1988.
[0033589]24177.Connor, J. M.: Fibrodysplasia ossificans progressiva: lessons from rare maladies. (Editorial) New Eng. J. Med. 335: 591-593, 1996.
[0033590]24178.Dooley, C. A.; Attia, G. R.; Rainey, W. E.; Moore, D. R.; Carr, B. R.: Bone morphogenetic protein inhibits ovarian androgen production. J. Clin. Endocr. Metab. 85: 3331-3337, 2000.
[0033591]24179.McAlpine, P. J.: Personal Communication. Winnipeg, Manitoba, Canada 7/15/1992.
[0033592]24180.Monsoro-Burq, A.-H.; le Douarin, N. M.: BMP4 plays a key role in left-right patterning in chick embryos by maintaining Sonic Hedgehog asymmetry. Molec. Cell 7: 789-799, 2001.
[0033593]24181.Shafritz, A. B.; Shore, E. M.; Gannon, F. H.; Zasloff, M. A.; Taub, R.; Muenke, M.; Kaplan, F. S.: Overexpression of an osteogenic morphogen in fibrodysplasia ossificans progressiva. New Eng. J. Med. 335: 555-561, 1996.
[0033594]24182.Tabas, J. A.; Hahn, G. V.; Cohen, R. B.; Seaunez, H. N.; Modi, W. S.; Wozney, J. M.; Zasloff, M.; Kaplan, F. S.: Chromosomal assignment of the human gene for bone morphogenetic protein 4. Clin. Orthop. Rel. Res. 293: 310-316, 1993.
[0033595]24183.Tucker, A. S.; Matthews, K. L.; Sharpe, P. T.: Transformation of tooth type induced by inhibition of BMP signaling. Science 282: 1136-1138, 1998.
[0033596]24184.van den Wijngaard, A.; Olde Weghuis, D.; Boersma, C. J. C.; van Zoelen, E. J. J.; Geurts van Kessel, A.; Olijve, W.: Fine mapping of the human bone morphogenetic protein-4 gene (BMP4) to chromosome 14q22-q23 by in situ hybridization. Genomics 27: 559-560, 1995.
[0033597]24185.van den Wijngaard, A.; van Kraay, M.; van Zoelen, E. J. J.; Olijve, W.; Boersma, C. J. C.: Genomic organization of the human bone morphogenetic protein-4 gene: molecular basis for multiple transcripts. Biochem. Biophys. Res. Commun. 219: 789-794, 1996.
[0033598]24186.Amano, S.; Scott, I. C.; Takahara, K.; Koch, M.; Champliaud, M.-F.; Gerecke, D. R.; Keene, D. R.; Hudson, D. L.; Nishiyama, T.; Lee, S.; Greenspan, D. S.; Burgeson, R. E.: Bone morphogenetic protein 1 is an extracellular processing enzyme of the laminin 5 gamma-2 chain. J. Biol. Chem. 275: 22728-22735, 2000.
[0033599]24187.Bond, J. S.; Beynon, R. J.: The astacin family of metalloendopeptidases. Protein Sci. 4: 1247-1261, 1995.
[0033600]24188.Ceci, J. D.; Kingsley, D. M.; Silan, C. M.; Copeland, N. G.; Jenkins, N. A.: An interspecific backcross linkage map of the proximal half of mouse chromosome 14. Genomics 6: 673-678, 1990.
[0033601]24189.Kessler, E.; Takahara, K.; Biniaminov, L.; Brusel, M.; Greenspan, D.: Bone morphogenic protein-1: the type I procollagen C-proteinase. Science 271: 360-362, 1996.
[0033602]24190.Kremmidiotis, G.; Baker, E.; Crawford, J.; Eyre, H. J.; Nahmias, J.; Callen, D. F.: Localization of human cadherin genes to chromosome regions exhibiting cancer-related loss of heterozygosity. Genomics 49: 467-471, 1998.
[0033603]24191.Herrenknecht, K.; Ozawa, M.; Eckerskorn, C.; Lottspeich, F.; Lenter, M.; Kemler, R.: The uvomorulin-anchorage protein alpha-catenin is a vinculin homologue. Proc. Nat. Acad. Sci. 88: 9156-9160, 1991.
[0033604]24192.Blomback, M.; Blomback, B.; Mammen, E. F.; Prasad, A. S.: Fibrinogen Detroit--a molecular defect in the N-terminal disulphide knot of human fibrinogen? Nature 218: 134-137, 1968.
[0033605]24193.Magnuson, V. L.; McCombs, J. L.; Lee, C.-C.; Yang, F.; Bowman, B. H.; McGill, J. R.: Human alpha-2-HS-glycoprotein localized to 3q27-q29 by in situ hybridization. Cytogenet. Cell Genet. 47: 72-74, 1988.
[0033606]24194.Hromas, R.; Collins, S.; Raskind, W.; Deaven, L.; Kaushansky, K. : Hem-1, a potential membrane protein, with expression restricted to blood cells. Biochim. Biophys. Acta 1090: 241-244, 1991.
[0033607]24195.Chen, Y.-H.; Lin, S.-J.; Lin, M.-W.; Tsai, H.-L.; Kuo, S.-S.; Chen, J.-W.; Charng, M.-J.; Wu, T.-C.; Chen, L.-C.; Ding, P. Y-A.; Pan, W.-H.; Jou, Y.-S.; Chau, L.-Y.: Microsatellite polymorphism in promoter of heme oxygenase-1 gene is associated with susceptibility to coronary artery disease in type 2 diabetic patients. Hum. Genet. 111: 1-8, 2002.
[0033608]24196.Fujita, T.; Toda, K.; Karimova, A.; Yan, S.-F.; Naka, Y.; Yet, S.-F.; Pinsky, D. J.: Paradoxical rescue from ischemic lung injury by inhaled carbon monoxide driven by derepression of fibrinolysis. Nature Med. 7: 598-604, 2001.
[0033609]24197.Kutty, R. K.; Kutty, G.; Rodriguez, I. R.; Chader, G. J.; Wiggert, B.: Chromosomal localization of the human oxygenase genes: heme oxygenase-1 (HMOX1) maps to chromosome 22q12 and heme oxygenase-2 (HMOX2) maps to chromosome 16p13.3. Genomics 20: 513-516, 1994.
[0033610]24198.Poss, K. D.; Tonegawa, S.: Reduced stress defense in heme oxygenase 1-deficient cells. Proc. Nat. Acad. Sci. 94: 10925-10930, 1997.
[0033611]24199.Saito-Ohara, F.; Ikeuchi, T.; Matsumoto, M.; Kurata, S.: Assignment of the mouse heme oxygenase genes: heme oxygenase-1 (Hmox1) to chromosome 10 band C1 and heme oxygenase-2 (Hmox2) to chromosome 16 band B1. Cytogenet. Cell Genet. 77: 180-181, 1997.
[0033612]24200.Seroussi, E.; Kedra, D.; Kost-Alimova, M.; Sandberg-Nordqvist, A.-C.; Fransson, I.; Jacobs, J. F. M.; Fu, Y.; Pan, H.-Q.; Roe, B. A.; Imreh, S.; Dumanski, J. P.: TOM1 genes map to human chromosome 22q13.1 and mouse chromosome 8C1 and encode proteins similar to the endosomal proteins HGS and STAM. Genomics 57: 380-388, 1999.
[0033613]24201.Yachie, A.; Niida, Y.; Wada, T.; Igarashi, N.; Kaneda, H.; Toma, T.; Ohta, K.; Kasahara, Y.; Koizumi, S.: Oxidative stress causes enhanced endothelial cell injury in human heme oxygenase-1 deficiency. J. Clin. Invest. 103: 129-135, 1999.
[0033614]24202.Yamada, N.; Yamaya, M.; Okinaga, S.; Nakayama, K.; Sekizawa, K.; Shibahara, S.; Sasaki, H.: Microsatellite polymorphism in the heme oxygenase-1 gene promoter is associated with susceptibility to emphysema. Am. J. Hum. Genet. 66: 187-195, 2000. Note: Erratum: Am. J. Hum. Genet. 68: 1542 only, 2001.
[0033615]24203.Yoshida, T.; Biro, P.; Cohen, T.; Muller, R. M.; Shibahara, S. : Human heme oxygenase cDNA and induction of its mRNA by hemin. Europ. J. Biochem. 171: 457-461, 1988.
[0033616]24204.Stevenson, R. E.; Schroer, R. J.; Taylor, H. A.; Compton, J. D.; Livingston, R. E., III: Dislocated lens, dolichostenomelia, and joint stiffness. Proc. Greenwood Genet. Center 1: 16-22, 1982.
[0033617]24205.Celli, J.; Duijf, P.; Hamel, B. C. J.; Bamshad, M.; Kramer, B.; Smits, A. P. T.; Newbury-Ecob, R.; Hennekam, R. C. M.; Van Buggenhout, G.; van Haeringen, A.; Woods, C. G.; van Essen, A. J.; de Waal, R.; Vriend, G.; Haber, D. A.; Yang, A.; McKeon, F.; Brunner, H. G.; van Bokhoven, H.: Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Cell 99: 143-153, 1999.
[0033618]24206.O'Farrell, P. H.: High resolution two-dimensional electrophoresis of proteins. J. Biol. Chem. 250: 4007-4021, 1975.
[0033619]24207.Osawa, M.; Umetsu, K.; Ohki, T.; Nagasawa, T.; Suzuki, T.; Takeichi, S.: Molecular evidence for human alpha2-HS glycoprotein (AHSG) polymorphism. Hum. Genet. 99: 18-21, 1997.
[0033620]24208.Pedersen, K. O.: Fetuin, a new globulin isolated from serum. (Letter) Nature 154: 575, 1944.
[0033621]24209.Rizzu, P.; Baldini, A.: Three members of the human cystatin gene superfamily, AHSG, HRG, and KNG, map within one megabase of genomic DNA at 3q27. Cytogenet. Cell Genet. 70: 26-28, 1995.
[0033622]24210.Terkelsen, O. B. F.; Jahnen-Dechent, W.; Nielsen, H.; Moos, T.; Fink, E.; Nawratil, P.; Muller-Esterl, W.; Mollgard, K.: Rat fetuin: distribution of protein and mRNA in embryonic and neonatal rat tissues. Anat. Embryol. 197: 125-133, 1998.
[0033623]24211.Umetsu, K.; Kashimura, S.; Ikeda, N.; Suzuki, T.: A new alpha-2-HS-glycoprotein typing by isoelectric focusing. Hum. Genet. 67: 70-71, 1984.
[0033624]24212.Umetsu, K.; Kashimura, S.; Ikeda, N.; Suzuki, T.: A new alpha-2-HS-glycoprotein allele (AHS*5*) in two Japanese families. Hum. Genet. 68: 264-265, 1984.
[0033625]24213.Umetsu, K.; Yuasa, I.; Ikuta, M.; Suzuki, T.: Alpha-2-HS-glycoprotein (A2HS) polymorphism in a Japanese population: existence of two new variants. Jpn. J. Hum. Genet. 32: 263-266, 1987.
[0033626]24214.Umetsu, K.; Yuasa, I.; Suzuki, T.: The polymorphism of desialyzed alpha-2-HSglycoprotein (AHS): isoelectric focusing in 2.5M urea as a method for identification of genetic variants. Hum. Genet. 73: 372-373, 1986.
[0033627]24215.Yoshioka, Y.; Gejyo, F.; Marti, T.; Rickli, E. E.; Burgi, W.; Offner, G. D.; Troxler, R. F.; Schmid, K.: The complete amino acid sequence of the A-chain of human plasma alpha-2HSglycoprotein. J. Biol. Chem. 261: 1665-1676, 1986.
[0033628]24216.Zelinski, T.; Kaita, H.; Lewis, M.; Coghlan, G.; Craig, D.: The sequence of chromosome 3 loci AHSG:TF:CHE1. Hum. Hered. 37: 1-6, 1987.
[0033629]24217.Cleve, H.: Genetic studies on the deficiency of beta-2-glycoprotein I of human serum. Humangenetik 5: 294-304, 1968.
[0033630]24218.Cleve, H.; Rittner, C.: Further family studies on the genetic control of beta-2-glycoprotein I concentration in human serum. Humangenetik 7: 93-97, 1969.
[0033631]24219.Eiberg, H.; Mohr, J.; Nielsen, L. S.: The beta-2-glycoprotein I (BG): allele frequencies and linkage relationships. (Abstract) Cytogenet. Cell Genet. 37: 462 only, 1984.
[0033632]24220.Eiberg, H.; Nielsen, L. S.; Mohr, J.: Exclusion mapping of apolipoprotein H (APOH) and relationship between electrophoretic and quantitative polymorphism. (Abstract) Cytogenet. Cell Genet. 51: 994 only, 1989.
[0033633]24221.Haagerup, A.; Kristensen, T.; Kruse, T. A.: Polymorphism and genetic mapping of the gene encoding human beta-2-glycoprotein I to chromosome 17. (Abstract) Cytogenet. Cell Genet. 58: 2005 only, 1991.
[0033634]24222.Haupt, H.; Schwick, H. G.; Storiko, K.: Ueber einen erblichen beta-2-Glykoprotein IMangel. Humangenetik 5: 291-293, 1968.
[0033635]24223.Hoeg, J. M.; Segal, P.; Gregg, R. E.; Chang, Y. S.; Lindgren, F. T.; Adamson, G. L.; Frank, M.; Brickman, C.; Brewer, H. B., Jr.: Characterization of plasma lipids and lipoproteins in patients with beta-2-glycoprotein I (apolipoprotein H) deficiency. Atherosclerosis 55: 25-34, 1985.
[0033636]24224.Kamboh, M. I.; Ferrell, R. E.; Sepehrnia, B.: Genetic studies of human apolipoproteins. IV. Structural heterogeneity of apolipoprotein H (beta-2-glycoprotein I). Am. J. Hum. Genet. 42: 452-457, 1988.
[0033637]24225.Koppe, A. L.; Walter, H.; Chopra, V. P.; Bajatzadeh, M.: Investigations on the genetics and population genetics of the beta-2-glycoprotein I polymorphism. Humangenetik 9: 164-171, 1970.
[0033638]24226.Lozier, J.; Takahashi, N.; Putnam, F. W.: Complete amino acid sequence of human plasma beta-2-glycoprotein I. Proc. Nat. Acad. Sci. 81: 3640-3644, 1984.
[0033639]24227.Mehdi, H.; Nunn, M.; Steel, D. M.; Whitehead, A. S.; Perez, M.; Walker, L.; Peeples, M. E.: Nucleotide sequence and expression of the human gene encoding apolipoprotein H (beta-2-glycoprotein I). Gene 108: 293-298, 1991.
[0033640]24228.Nakaya, Y.; Schaefer, E. J.; Brewer, H. B.: Activation of human post-heparin lipase by apolipoprotein H (beta-2-glycoprotein I). Biochem. Biophys. Res. Commun. 95: 1168-1172, 1980.
[0033641]24229.Nonaka, M.; Matsuda, Y.; Shiroishi, T.; Moriwaki, K.; Nonaka, M.; Natsuume-Sakai, S.: Molecular cloning of mouse beta-2-glycoprotein I and mapping of the gene to chromosome 11. Genomics 13: 1082-1087, 1992.
[0033642]24230.Rahimi, A. G.; Goedde, H. W.; Flatz, G.; Kaifie, S.; Benkmann, H.-G.; Delbruck, H.: Serum protein polymorphisms in four populations of Afghanistan. Am. J. Hum. Genet. 29: 356-360, 1977.
[0033643]24231.Richter, A.; Cleve, H.: Genetic variations of human serum beta-2-glycoprotein I demonstrated by isoelectric focusing. Electrophoresis 9: 317-322, 1988.
[0033644]24232.Sanghera, D. K.; Nestlerode, C. S.; Ferrell, R. E.; Kamboh, M. I.: Chimpanzee apolipoprotein H (beta-2-glycoprotein I): report on the gene structure, a common polymorphism, and a high prevalence of antiphospholipid antibodies. Hum. Genet. 109: 63-72, 2001.
[0033645]24233.Sanghera, D. K.; Wagenknecht, D. R.; McIntyre, J. A.; Kamboh, M. I.: Identification of structural mutations in the fifth domain of apolipoprotein H (beta-2-glycoprotein I) which affect phospholipid binding. Hum. Molec. Genet. 6: 311-316, 1997.
[0033646]24234.Sepehrnia, B.; Kamboh, M. I.; Adams-Campbell, L. L.; Bunker, C. H.; Nwankwo, M.; Majumder, P. P.; Ferrell, R. E.: Genetic studies of human apolipoproteins. VIII. Role of the apolipoprotein H polymorphism in relation to serum lipoprotein concentrations. Hum. Genet. 82: 118-122, 1989.
[0033647]24235.Kost, G. J.; Verity, A.: A new variant of late-onset myophosphorylase deficiency. Muscle Nerve 3: 195-201, 1980.
[0033648]24236.Rosenmann, A.; Scriver, C. R.; Clow, C. L.; Levy, H. L.: Histidinaemia. Part II: Impact; a retrospective study. J. Inherit. Metab. Dis. 6: 54-57, 1983.
[0033649]24237.Johnson, J. L.; Coyne, K. E.; Rajagopalan, K. V.; Van Hove, J. L. K.; Mackay, M.; Pitt, J.; Boneh, A.: Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency. Am. J. Med. Genet. 104: 169-173, 2001.
[0033650]24238.Johnson, J. L.; Wuebbens, M. M.; Mandell, R.; Shih, V. E.: Molybdenum cofactor biosynthesis in humans: identification of two complementation groups of cofactor-deficient patients and preliminary characterization of a diffusible molybdopterin precursor. J. Clin. Invest. 83: 897-903, 1989.
[0033651]24239.Reiss, J.; Christensen, E.; Dorche, C.: Molybdenum cofactor deficiency: first prenatal genetic analysis. Prenatal Diag. 19: 386-388, 1999.
[0033652]24240.Reiss, J.; Christensen, E.; Kurlemann, G.; Zabot, M.-T.; Dorche, C.: Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A. Hum. Genet. 103: 639-644, 1998.
[0033653]24241.Reiss, J.; Cohen, N.; Dorche, C.; Mandel, H.; Mendel, R. R.; Stallmeyer, B.; Zabot, M.-T.; Dierks, T.: Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency. Nature Genet. 20: 51-53, 1998.
[0033654]24242.Reiss, J.; Dorche, B.; Stallmeyer, B.; Mendel, R. R.; Cohen, N.; Zabot, M. T.: Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B. Am. J. Hum. Genet. 64: 706-711, 1999.
[0033655]24243.Inui, K.; Emmett, M.; Wenger, D. A.: Immunological evidence for deficiency in an activator protein for sulfatide sulfatase in a variant form of metachromatic leukodystrophy. Proc. Nat. Acad. Sci. 80: 3074-3077, 1983.
[0033656]24244.Austin, J.; Armstrong, D.; Fouch, S.; Mitchell, C.; Stumpf, D. A.; Shearer, L.; Briner, O.: Metachromatic leukodystrophy (MLD). VIII. MLD in adults: diagnosis and pathogenesis. Arch. Neurol. 18: 225-240, 1968.
[0033657]24245.Austin, J.; McAfee, D.; Armstrong, D.; O'Rourke, M.; Shearer, L.; Bachhawat, B. K.: Abnormal sulphatase activities in two human diseases (metachromatic leukodystrophy and gargoylism). Biochem. J. 93: 15C-17C, 1964.
[0033658]24246.Austin, J.; McAfee, D.; Shearer, L.: Metachromatic form of diffuse cerebral sclerosis. IV. Low sulfatase activity in the urine of nine living patients with metachromatic leukodystrophy (MLD). Arch. Neurol. 12: 447-455, 1965.
[0033659]24247.Austin, J. H.: Some recent findings in leukodystrophies and in gargoylism.In: Aronson, S. M.; Volk, B. W.: Inborn Disorders of Sphingolipid Metabolism. Oxford: Pergamon Press (pub.) 1967. Pp. 359-387.
[0033660]24248.Austin, J. H.: Metachromatic form of diffuse cerebral sclerosis. III. Significance of sulfatide and other lipid abnormalities in white matter and kidney. Neurology 10: 470-483, 1960.
[0033661]24249.Baldinger, S.; Pierpont, M. E.; Wenger, D. A.: Pseudodeficiency of arylsulfatase A: a counseling dilemma. Clin. Genet. 31: 70-76, 1987.
[0033662]24250.Barth, M. L.; Fensom, A.; Harris, A.: Missense mutations in the arylsulphatase A genes of metachromatic leukodystrophy patients. Hum. Molec. Gen. 2: 2117-2121, 1993.
[0033663]24251.Barth, M. L.; Fensom, A.; Harris, A.: Identification of seven novel mutations associated with metachromatic leukodystrophy. Hum. Mutat. 6: 170-176, 1995.
[0033664]24252.Lebo, R. V.; Anderson, L. A.; DiMauro, S.; Lynch, E.; Hwang, P.; Fletterick, R.: Rare McArdle disease locus polymorphic site on 11q13 contains CpG sequence. Hum. Genet. 86: 17-24, 1990.
[0033665]24253.Lebo, R. V.; Gorin, F.; Fletterick, R. J.; Kao, F.-T.; Cheung, M.-C.; Bruce, B. D.; Kan, Y. W.: High-resolution chromosome sorting and DNA spot-blot analysis assign McArdle's syndrome to chromosome 11. Science 225: 57-59, 1984.
[0033666]24254.Lehoczky, T.; Halasy, M.; Simon, G.; Harmos, G.: Glycogenic myopathy: a case of skeletal muscle-glycogenosis in twins. J. Neurol. Sci. 2: 366-384, 1965.
[0033667]24255.Mantle, D.; Lauffart, B.; Atack, J.; Lane, R. J. M.: Absence of biochemical heterogeneity in McArdle's disease: a high resolution SDS-polyacrylamide gel electrophoresis study. J. Neurol. Sci. 78: 63-70, 1987.
[0033668]24256.Martin, M. A.; Rubio, J. C.; Garcia, A.; Fernandez, M. A.; Campos, Y.; Krawczak, M.; Cooper, D. N.; Arenas, J.: Resolution of a mispaired secondary structure intermediate could account for a novel micro-insertion/deletion (387 insA/del 8 bp) in the PYGM gene causing McArdle's disease. Clin. Genet. 59: 48-51, 2001.
[0033669]24257.Martinuzzi, A.; Vergani, L.; Carrozzo, R.; Fanin, M.; Bartoloni, L.; Angelini, C.; Askanas, V.; Engel, W. K.: Expression of muscle-type phosphorylase in innervated and aneural cultured muscle of patients with myophosphorylase deficiency. J. Clin. Invest. 92: 1774-1780, 1993.
[0033670]24258.McArdle, B.: Myopathy due to a defect in muscle glycogen breakdown. Clin. Sci. 10: 13-33, 1951.
[0033671]24259.Mellick, R. S.; Mahler, R. F.; Hughes, B. P.: McArdle's syndrome. Phosphorylasedeficient myopathy. Lancet I: 1045-1048, 1962.
[0033672]24260.Miranda, A. F.; Nette, E. G.; Hartlage, P. L.; DiMauro, S.: Phosphorylase isoenzymes in normal and myophosphorylase-deficient human heart. Neurology 29: 1538-1541, 1979.
[0033673]24261.Papadimitriou, A.; Manta, P.; Divari, R.; Karabetsos, A.; Papadimitriou, E.; Bresolin, N.: McArdle's disease: two clinical expressions in the same pedigree. J. Neurol. 237: 267-270, 1990.
[0033674]24262.Pearson, C. M.; Rimer, D. G.; Mommaerts, W. F. H. M.: A metabolic myopathy due to absence of muscle phosphorylase. Am. J. Med. 30: 502-517, 1961.
[0033675]24263.Ross, B. D.; Radda, G. K.; Gadian, D. G.; Rocker, G.; Esiri, M.; Falconer-Smith, J.: Examination of a case of suspected McArdle's syndrome by (31)P nuclear magnetic resonance. New Eng. J. Med. 304: 1338-1342, 1981.
[0033676]24264.Rowland, L. P.; Lovelace, R. E.; Schotland, D. L.; Araki, S.; Carmel, P.: The clinical diagnosis of McArdle's disease: identification of another family with deficiency of muscle phosphorylase. Neurology 16: 93-100, 1966.
[0033677]24265.Sarova-Pinhas, I.; Sadeh, M.: McArdle disease in a Druze family. Israel J. Med. Sci. 25: 64-68, 1989.
[0033678]24266.Schmid, R.; Hammaker, L.: Hereditary absence of muscle phosphorylase (McArdle's syndrome). New Eng. J. Med. 264: 223-225, 1961.
[0033679]24267.Schmid, R.; Mahler, R.: Chronic progressive myopathy with myoglobinuria: demonstration of a glycogenolytic defect in the muscle. J. Clin. Invest. 38: 2044-2058, 1959.
[0033680]24268.Servidei, S.; Shanske, S.; Zeviani, M.; Lebo, R.; Fletterick, R.; DiMauro, S.: McArdle's disease: biochemical and molecular genetic studies. Ann. Neurol. 24: 774-781, 1988.
[0033681]24269.Slonim, A. E.; Goans, P. J.: Myopathy in McArdle's syndrome: improvement with a high-protein diet. New Eng. J. Med. 312: 355-359, 1985.
[0033682]24270.Tabata, T.; Kikunami, K.; Matsushita, Y.; Inoue, T.; Inoue, T.; Okamoto, T.; Kono, N.; Takahashi, M.; Tarui, S.; Morii, H.: Acute renal failure in McArdle's disease. Nephron 44: 371-374, 1986.
[0033683]24271.Tsujino, S.; Rubin, L. A.; Shanske, S.; DiMauro, S.: An A-to-C substitution involving the translation initiation codon in a patient with myophosphorylase deficiency (McArdle's disease). Hum. Mutat. 4: 73-75, 1994.
[0033684]24272.Tsujino, S.; Shanske, S.; DiMauro, S.: Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease). New Eng. J. Med. 329: 241-245, 1993.
[0033685]24273.Tsujino, S.; Shanske, S.; Martinuzzi, A.; Heiman-Patterson, T.; DiMauro, S.: Two novel missense mutations (E654K, L396P) in Caucasian patients with myophosphorylase deficiency (McArdle's disease). Hum. Mutat. 6: 276-277, 1995.
[0033686]24274.Tsujino, S.; Shanske, S.; Nonaka, I.; Eto, Y.; Mendell, J. R.; Fenichel, G. M.; DiMauro, S.: Three new mutations in patients with myophosphorylase deficiency (McArdle disease). Am. J. Hum. Genet. 54: 44-52, 1994.
[0033687]24275.Vorgerd, M.; Kubisch, C.; Burwinkel, B.; Reichmann, H.; Mortier, W.; Tettenborn, B.; Pongratz, D.; Lindemuth, R.; Tegenthoff, M.; Malin, J.-P.; Kilimann, M. W.: Mutation analysis in myophosphorylase deficiency (McArdle's disease). Ann. Neurol. 43: 326-331, 1998.
[0033688]24276.Hers, H. G.: Etudes enzymatiques sur fragments hepatiques: application a la classification des glycogenoses. Rev. Int. Hepat. 9: 35-55, 1959.
[0033689]24277.Scriver, C. R.; Levy, H. L.: Histidinaemia. Part I: Reconciling retrospective and prospective findings. J. Inherit. Metab. Dis. 6: 51-53, 1983.
[0033690]24278.Suchi, M.; Harada, N.; Wada, Y.; Takagi, Y.: Molecular cloning of a cDNA encoding human histidase. Biochim. Biophys. Acta 1216: 293-295, 1993.
[0033691]24279.Suchi, M.; Sano, H.; Mizuno, H.; Wada, Y.: Molecular cloning and structural characterization of the human histidase gene (HAL). Genomics 29: 98-104, 1995.
[0033692]24280.Taylor, R. G.; Garcia-Heras, J.; Sadler, S. J.; Lafreniere, R. G.; Willard, H. F.; Ledbetter, D. H.; McInnes, R. R.: Localization of histidase to human chromosome region 12q22-q24.1 and mouse chromosome region 10C2-D1. Cytogenet. Cell Genet. 56: 178-181, 1991.
[0033693]24281.Taylor, R. G.; Garcia-Heras, J.; Sexsmith, E.; Lambert, M.; Ledbetter, D.; McInnes, R. R.: Molecular characterization of histidase cDNAs, and sublocalization of the human histidase gene to 12q22-23, and the mouse gene to 10C2-D1.(Abstract) Am. J. Hum. Genet. 45 (suppl.): A164, 1989.
[0033694]24282.Taylor, R. G.; Grieco, D.; Clarke, G. A.; McInnes, R. R.; Taylor, B. A.: Identification of the mutation in murine histidinemia (his) and genetic mapping of the murine histidase locus (Hal) on chromosome 10. Genomics 16: 231-240, 1993.
[0033695]24283.Wadman, S. K.; Van Sprang, F. J.; Van Stekelenburg, G. J.; de Bree, P. K.: Three new cases of histidinemia: clinical and biochemical data. Acta Paediat. Scand. 56: 485-492, 1967.
[0033696]24284.Woody, N. C.; Snyder, C. H.; Harris, J. A.: Histidinemia. Am. J. Dis. Child. 110: 606-613, 1965.
[0033697]24285.Martin-Subero, J. I.; Gesk, S.; Harder, L.; Sonoki, T.; Tucker, P. W.; Schlegelberger, B.; Grote, W.; Novo, F. J.; Calasanz, M. J.; Hansmann, M. L.; Dyer, M. J. S.; Siebert, R.: Recurrent involvement of the REL and BCL11A loci in classical Hodgkin lymphoma. Blood 99: 1474-1477, 2002.
[0033698]24286.Hankinson, S. E.; Willett, W. C.; Colditz, G. A.; Hunter, D. J.; Michaud, D. S.; Deroo, B.; Rosner, B.; Speizer, F. E.; Pollak, M. : Circulating concentrations of insulin-like growth factor-I and risk of breast cancer. Lancet 351: 1393-1396, 1998.
[0033699]24287.Esumi, N.; Budarf, M.; Ciccarelli, L.; Sellinger, B.; Kozak, C. A.; Wistow, G.: Conserved gene structure and genomic linkage for D-dopachrome tautomerase (DDT) and MIF. Mammalian Genome 9: 753-757, 1998.
[0033700]24288.Roger, T.; David, J.; Glauser, M. P.; Calandra, T.: MIF regulates innate immune response through modulation of Toll-like receptor 4. Nature 414: 920-924, 2001.
[0033701]24289.Emi, M.; Asaoka, H.; Matsumoto, A.; Itakura, H.; Kurihara, Y.; Wada, Y.; Kanamori, H.; Yazaki, Y.; Takahashi, E.; Lepert, M.; Lalouel, J.-M.; Kodama, T.; Mukai, T.: Structure, organization, and chromosomal mapping of the human macrophage scavenger receptor gene. J. Biol. Chem. 268: 2120-2125, 1993.
[0033702]24290.Latil, A.; Lidereau, R.: Genetic aspects of prostate cancer. Virchows Arch. 432: 389-406, 1998.
[0033703]24291.Matsumoto, A.; Naito, M.; Itakura, H.; Ikemoto, S.; Asaoka, H.; Hayakawa, I.; Kanamori, H.; Aburatani, H.; Takaku, F.; Suzuki, H.; Kobari, Y.; Miyai, T.; Takahashi, K.; Cohen, E. H.; Wydro, R.; Housman, D. E.; Kodama, T.: Human macrophage scavenger receptors: primary structure, expression, and localization in atherosclerotic lesions. Proc. Nat. Acad. Sci. 87: 9133-9137, 1990.
[0033704]24292.Xu, J.; Zheng, S. L.; Hawkins, G. A.; Faith, D. A.; Kelly, B.; Isaacs, S. D.; Wiley, K. E.; Chang, B.; Ewing, C. M.; Bujnovszky, P.; Carpten, J. D.; Bleecker, E. R.; Walsh, P. C.; Trent, J. M.; Meyers, D. A.; Isaacs, W. B.: Linkage and association studies of prostate cancer susceptibility: evidence for linkage at 8p22-23. Am. J. Hum. Genet. 69: 341-350, 2001.
[0033705]24293.Xu, J.; Zheng, S. L.; Komiya, A.; Mychaleckyj, J. C.; Isaacs, S. D.; Hu, J. J.; Sterling, D.; Lange, E. M.; Hawkins, G. A.; Turner, A.; Ewing, C. M.; Faith, D. A.; and 19 others: Germline mutations and sequence variants of the macrophage scavenger receptor 1 gene are associated with prostate cancer risk. Nature Genet. 32: 321-325, 2002.
[0033706]24294.Holness, C. L.; Simmons, D. L.: Molecular cloning of CD68, a human macrophage marker related to lysosomal glycoproteins. Blood 81: 1607-1613, 1993.
[0033707]24295.Jones, E.; Quinn, C. M.; See, C. G.; Montgomery, D. S.; Ford, M. J.; Kolble, K.; Gordon, S.; Greaves, D. R.: The linked human elongation initiation factor 4A1 (EIF4A1) and CD68 genes map to chromosome 17p13. Genomics 53: 248-250, 1998.
[0033708]24296.Chavrier, P.; Janssen-Timmen, U.; Mattei, M.-G.; Zerial, M.; Bravo, R.; Charnay, P.: Structure, chromosome location, and expression of the mouse zinc finger gene Krox-20: multiple gene products and coregulation with the proto-oncogene c-fos. Molec. Cell. Biol. 9: 787-797, 1989.
[0033709]24297.Le Beau, M. M.; Espinosa, R., III; Neuman, W. L.; Stock, W.; Roulston, D.; Larson, R. A.; Keinanen, M.; Westbrook, C. A.: Cytogenetic and molecular delineation of the smallest commonly deleted region of chromosome 5 in malignant myeloid diseases. Proc. Nat. Acad. Sci. 90: 5484-5488, 1993.
[0033710]24298.Barrow, L. L.; Simin, K.; Jones, J. M.; Lee, D. C.; Meisler, M. H.: Conserved linkage of early growth response 4, annexin 4, and transforming growth factor alpha on mouse chromosome 6. Genomics 19: 388-390, 1994.
[0033711]24299.Crosby, S. D.; Veile, R. A.; Donis-Keller, H.; Baraban, J. M.; Bhat, R. V.; Simburger, K. S.; Milbrandt, J.: Neural-specific expression, genomic structure, and chromosomal localization of the gene encoding the zinc-finger transcription factor NGFI-C. Proc. Nat. Acad. Sci. 89: 4739-4743, 1992.
[0033712]24300.Boerkoel, C. F.; Takashima, H.; Bacino, C. A.; Daentl, D.; Lupski, J. R.: EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy. Neurogenetics 3: 153-157, 2001.
[0033713]24301.Willcutt, E. G.; Pennington, B. F.; Smith, S. D.; Cardon, L. R.; Gayan, J.; Knopik, V. S.; Olson, R. K.; DeFries, J. C.: Quantitative trait locus for reading disability on chromosome 6p is pleiotropic for attention-deficit/hyperactivity disorder. Am. J. Med. Genet. 114: 260-268, 2002.
[0033714]24302.Koiwai, O.; Nishizawa, M.; Hasada, K.; Aono, S.; Adachi, Y.; Mamiya, N.; Sato, H.: Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDPglucuronosyltransferase. Hum. Molec. Genet. 4: 1183-1186, 1995.
[0033715]24303.Maruo, Y.; Wada, S.; Yamamoto, K.; Sato, H.; Yamano, T.; Shimada, M.: A case of anorexia nervosa with hyperbilirubinaemia in a patient homozygous for a mutation in the bilirubin UDPglucuronosyltransferase gene. Europ. J. Pediat. 158: 547-549, 1999.
[0033716]24304.Andres, D. A.; Milatovich, A.; Ozcelik, T.; Wenzlau, J. M.; Brown, M. S.; Goldstein, J. L.; Francke, U.: cDNA cloning of the two subunits of human CAAX farnesyltransferase and chromosomal mapping of FNTA and FNTB loci and related sequences. Genomics 18: 105-112, 1993.
[0033717]24305.Long, S. B.; Casey, P. J.; Beese, L. S.: Reaction path of protein farnesyltransferase at atomic resolution. Nature 419: 645-650, 2002.
[0033718]24306.Roifman, C. M.; Zhang, J.; Chitayat, D.; Sharfe, N.: A partial deficiency of interleukin-7R-alpha is sufficient to abrogate T-cell development and cause severe combined immunodeficiency. Blood 96: 2803-2807, 2000.
[0033719]24307.Bowne, S. J.; Sullivan, L. S.; Blanton, S. H.; Cepko, C. L.; Blackshaw, S.; Birch, D. G.; Hughbanks-Wheaton, D.; Heckenlively, J. R.; Daiger, S. P.: Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa. Hum. Molec. Genet. 11: 559-568, 2002.
[0033720]24308.Collart, F. R.; Huberman, E.: Cloning and sequence analysis of the human and Chinese hamster inosine-5-prime-monophosphate dehydrogenase cDNAs. J. Biol. Chem. 263: 15769-15772, 1988.
[0033721]24309.Doggett, N. A.; Callen, D. F.; Chen, Z. L.; Moore, S.; Tesmer, J. G.; Duesing, L. A.; Stallings, R. L.: Identification and regional localization of a human IMP dehydrogenase-like locus (IMPDHL1) at 16p13.13. Genomics 18: 687-689, 1993.
[0033722]24310.Gu, J. J.; Kaiser-Rogers, K.; Rao, K.; Mitchell, B. S.: Assignment of the human type I IMP dehydrogenase gene (IMPDH1) to chromosome 7q31.3-q32. Genomics 24: 179-181, 1994.
[0033723]24311.Natsumeda, Y.; Ohno, S.; Kawasaki, H.; Konno, Y.; Weber, G.; Suzuki, K.: Two distinct cDNAs for human IMP dehydrogenase. J. Biol. Chem. 265: 5292-5295, 1990.
[0033724]24312.Kennan, A.; Aherne, A.; Palfi, A.; Humphries, M.; McKee, A.; Stitt, A.; Simpson, D. A. C.; Demtroder, K.; Orntoft, T.; Ayuso, C.; Kenna, P. F.; Farrar, G. J.; Humphries, P.: Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho-/- mice. Hum. Molec. Genet. 11: 547-558, 2002.
[0033725]24313.Crompton, M. R.; Moss, S. E.; Crumpton, M. J.: Diversity in the lipocortin/calpactin family. Cell 55: 1-3, 1988.
[0033726]24314.Horlick, K. R.; Cheng, I. C.; Wong, W. T.; Wakeland, E. K.; Nick, H. S.: Mouse lipocortin I gene structure and chromosomal assignment: gene duplication and the origins of a gene family. Genomics 10: 365-374, 1991.
[0033727]24315.Huebner, K.; Cannizzaro, L. A.; Croce, C. M.; Frey, A. Z.; Wallner, B. P.; Hecht, B. K.; Hecht, F.: Chromosome localization of the human genes for lipocortin I and the lipocortin II family. (Abstract) Cytogenet. Cell Genet. 46: 631 only, 1987.
[0033728]24316.Huebner, K.; Cannizzaro, L. A.; Frey, A. Z.; Hecht, B. K.; Hecht, F.; Croce, C. M.; Wallner, B. P.: Chromosomal localization of the human genes for lipocortin I and lipocortin II. Oncogene Res. 2: 299-310, 1988.
[0033729]24317.Pepinsky, R. B.; Tizard, R.; Mattaliano, R. J.; Sinclair, L. K.; Miller, G. T.; Browning, J. L.; Chow, E. P.; Burne, C.; Huang, K.-S.; Pratt, D.; Wachter, L.; Hession, C.; Frey, A. Z.; Wallner, B. P.: Five distinct calcium and phospholipid binding proteins share homology with lipocortin I. J. Biol. Chem. 263: 10799-10811, 1988.
[0033730]24318.Shohat, M.; Korenberg, J. R.; Schwabe, A. D.; Rotter, J. I.: Hypothesis: familial Mediterranean fever--a genetic disorder of the lipocortin family? Am. J. Med. Genet. 34: 163-167, 1989.
[0033731]24319.Wallner, B. P.; Mattaliano, R. J.; Hession, C.; Cate, R. L.; Tizard, R.; Sinclair, L. K.; Foeller, C.; Chow, E. P.; Browning, J. L.; Ramachandran, K. L.; Pepinsky, R. B.: Cloning and expression of human lipocortin, a phospholipase A2 inhibitor with potential anti-inflammatory activity. Nature 320: 77-81, 1986.
[0033732]24320.Harman, S. M.; Metter, E. J.; Blackman, M. R.; Landis, P. K.; Carter, H. B.: Serum levels of insulin-like growth factor I (IGF-I), IGF-II, IGF-binding protein-3, and prostate-specific antigen as predictors of clinical prostate cancer. J. Clin. Endocr. Metab. 85: 4258-4265, 2000.
[0033733]24321.Holly, J.: Insulin-like growth factor-I and new opportunities for cancer prevention. Lancet 351: 1373-1375, 1998.
[0033734]24322.Hoppener, J. W. M.; de Pagter-Holthuizen, P.; Geurts van Kessel, A. H. M.; Jansen, M.; Kittur, S. D.; Antonarakis, S. E.; Lips, C. J. M.; Sussenbach, J. S.: The human gene encoding insulinlike growth factor I is located on chromosome 12. Hum. Genet. 69: 157-160, 1985.
[0033735]24323.Le Bouc, Y.; Dreyer, D.; Jaeger, F.; Binoux, M.; Sondermeyer, P.: Complete characterization of the human IGF-I nucleotide sequence isolated from a newly constructed adult liver cDNA library. FEBS Lett. 196: 108-112, 1986.
[0033736]24324.Hellstrom, A.; Perruzzi, C.; Ju, M.; Engstrom, E.; Hard, A.-L.; Liu, J.-L.; Albertsson-Wikland, K.; Carlsson, B.; Niklasson, A.; Sjodell, L.; LeRoith, D.; Senger, D. R.; Smith, L. E. H.: Low IGF-I suppresses VEGF-survival signaling in retinal endothelial cells: direct correlation with clinical retinopathy of prematurity. Proc. Nat. Acad. Sci. 98: 5804-5808, 2001.
[0033737]24325.Lembo, G.; Rockman, H. A.; Hunter, J. J.; Steinmetz, H.; Koch, W. J.; Ma, L.; Printz, M. P.; Ross, J., Jr.; Chien, K. R.; Powell-Braxton, L.: Elevated blood pressure and enhanced myocardial contractility in mice with severe IGF-1 deficiency. J. Clin. Invest. 98: 2648-2655, 1996.
[0033738]24326.Li, C. H.; Yamashiro, D.; Gospodarowicz, D.; Kaplan, S. L.; Van Vliet, G.: Total synthesis of insulin-like growth factor I (somatomedin C). Proc. Nat. Acad. Sci. 80: 2216-2220, 1983.
[0033739]24327.Liu, J.-P.; Baker, J.; Perkins, A. S.; Robertson, E. J.; Efstratiadis, A.: Mice carrying null mutations of the genes encoding insulin-like growth factor I (Igf-1) and type 1 IGF receptor (Igf1r). Cell 75: 59-72, 1993.
[0033740]24328.Mathews, L. S.; Norstedt, G.; Palmiter, R. D.: Regulation of insulin-like growth factor I gene expression by growth hormone. Proc. Nat. Acad. Sci. 83: 9343-9347, 1986.
[0033741]24329.Morton, C.; Rall, L.; Bell, G.; Shows, T.: Human insulin-like growth factor-1 (IGF1) is encoded at 12q22-q24.1, and insulin-like growth factor-2 (IGF2) is at 11p15. (Abstract) Cytogenet. Cell Genet. 40: 703 only, 1985.
[0033742]24330.Musaro, A.; McCullagh, K.; Paul, A.; Houghton, L.; Dobrowolny, G.; Molinaro, M.; Barton, E. R.; Sweeney, H. L.; Rosenthal, N.: Localized Igf-1 transgene expression sustains hypertrophy and regeneration in senescent skeletal muscle. Nature Genet. 27: 195-200, 2001.
[0033743]24331.Musaro, A.; McCullagh, K. J. A.; Naya, F. J.; Olson, E. N.; Rosenthal, N.: IGF-1 induces skeletal myocyte hypertrophy through calcineurin in association with GATA-2 and NF-ATc1. Nature 400: 581-585, 1999.
[0033744]24332.Playford, M. P.; Bicknell, D.; Bodmer, W. F.; Macaulay, V. M. : Insulin-like growth factor 1 regulates the location, stability, and transcriptional activity of beta-catenin. Proc. Nat. Acad. Sci. 97: 12103-12108, 2000.
[0033745]24333.Powell-Braxton, L.; Hollingshead, P.; Warburton, C.; Dowd, M.; Pitts-Meek, S.; Dalton, D.; Gillett, N.; Stewart, T. A.: IGF-I is required for normal embryonic growth in mice. Genes Dev. 7: 2609-2617, 1993.
[0033746]24334.Rapp, R.; Deger, A.; Blum, W.; Koch, R.; Weber, U.: Characterization of the protein which binds insulin-like growth factor in human serum. Europ. J. Biochem. 172: 421-425, 1988.
[0033747]24335.Rotwein, P.: Two insulin-like growth factor I messenger RNAs are expressed in human liver. Proc. Nat. Acad. Sci. 83: 77-81, 1986.
[0033748]24336.Schoenle, E. J.; Zenobi, P. D.; Torresani, T.; Werder, E. A.; Zachmann, M.; Froesch, E. R.: Recombinant human insulin-like growth factor I (rhIGF I) reduces hyperglycaemia in patients with extreme insulin resistance. Diabetologia 34: 675-679, 1991.
[0033749]24337.Semsarian, C.; Wu, M.-J.; Ju, Y.-K.; Marciniec, T.; Yeoh, T.; Allen, D. G.; Harvey, R. P.; Graham, R. M.: Skeletal muscle hypertrophy is mediated by a Ca(2+)-dependent calcineurin signalling pathway. Nature 400: 576-581, 1999.
[0033750]24338.Svoboda, M. E.; Van Wyk, J. J.; Klapper, D. G.; Fellows, R. E.; Grissom, F. E.; Schleuter, R. J.: Purification of somatomedin-C from human plasma: chemical and biological properties, partial sequence analysis, and relationship to other somatomedins. Biochemistry 19: 790-797, 1980.
[0033751]24339.Taylor, B. A.; Grieco, D.: Localization of the gene encoding insulin-like growth factor I on mouse chromosome 10. Cytogenet. Cell Genet. 56: 57-58, 1991.
[0033752]24340.Tricoli, J. V.; Rall, L. B.; Scott, J.; Bell, G. I.; Shows, T. B.: Insulin-like growth factor genes: chromosome organization and association with disease. (Abstract) Am. J. Hum. Genet. 36: 121S only, 1984.
[0033753]24341.Tricoli, J. V.; Rall, L. B.; Scott, J.; Bell, G. I.; Shows, T. B.: Localization of insulinlike growth factor genes to human chromosomes 11 and 12. Nature 310: 784-786, 1984.
[0033754]24342.Ullrich, A.; Berman, C. H.; Dull, T. J.; Gray, A.; Lee, J. M. : Isolation of the human insulin-like growth factor I gene using a single synthetic DNA probe. EMBO J. 3: 361-364, 1984.
[0033755]24343.Gough, N. M.; Rakar, S.; Harpur, A.; Wilks, A. F.: Localization of genes for two members of the JAK family of protein tyrosine kinases to murine chromosomes 4 and 19. Mammalian Genome 6: 247-248, 1995.
[0033756]24344.Ihle, J. N.: Cytokine receptor signalling. Nature 377: 591-594, 1995.
[0033757]24345.Pritchard, M. A.; Baker, E.; Callen, D. F.; Sutherland, G. R.; Wilks, A. F.: Two members of the JAK family of protein tyrosine kinases map to chromosomes 1p31.3 and 9p24. Mammalian Genome 3: 36-38, 1992.
[0033758]24346.Campbell, G. S.; Argetsinger, L. S.; Ihle, J. N.; Kelly, P. A.; Rillema, J. A.; Carter-Su, C.: Activation of JAK2 tyrosine kinase by prolactin receptors in Nb2 cells and mouse mammary gland explants. Proc. Nat. Acad. Sci. 91: 5232-5236, 1994.
[0033759]24347.Huang, L. J.; Constantinescu, S. N.; Lodish, H. F.: The N-terminal domain of Janus kinase 2 is required for Golgi processing and cell surface expression of erythropoietin receptor. Molec. Cell 8: 1327-1338, 2001.
[0033760]24348.Neubauer, H.; Cumano, A.; Muller, M.; Wu, H.; Huffstadt, U.; Pfeffer, K.: Jak2 deficiency defines an essential developmental checkpoint in definitive hematopoiesis. Cell 93: 397-409, 1998.
[0033761]24349.Parganas, E.; Wang, D.; Stravopodis, D.; Topham, D. J.; Marine, J.-C.; Teglund, S.; Vanin, E. F.; Bodner, S.; Colamonici, O. R.; van Deursen, J. M.; Grosveld, G.; Ihle, J. N.: Jak2 is essential for signaling through a variety of cytokine receptors. Cell 93: 385-395, 1998.
[0033762]24350.Saltzman, A.; Stone, M.; Franks, C.; Searfoss, G.; Munro, R.; Jaye, M.; Ivashchenko, Y.: Cloning and characterization of human Jak-2 kinase: high mRNA expression in immune cells and muscle tissue. Biochem. Biophys. Res. Commun. 246: 627-633, 1998.
[0033763]24351.Schwaller, J.; Parganas, E.; Wang, D.; Cain, D.; Aster, J. C.; Williams, I. R.; Lee, C.-K.; Gerthner, R.; Kitamura, T.; Frantsve, J.; Anastasiadou, E.; Loh, M. L.; Levy, D. E.; Ihle, J. N.; Gilliland, D. G.: Stat5 is essential for the myelo- and lymphoproliferative disease induced by TEL/JAK2. Molec. Cell 6: 693-704, 2000.
[0033764]24352.Watling, D.; Guschin, D.; Muller, M.; Silvennoinen, O.; Witthuhn, B. A.; Quelle, F. W.; Rogers, N. C.; Schindler, C.; Stark, G. R.; Ihle, J. N.; Kerr, I. M.: Complementation by the protein tyrosine kinase JAK2 of a mutant cell line defective in the interferon-gamma signal transduction pathway. Nature 366: 166-170, 1993.
[0033765]24353.Cihakova, D.; Trebusak, K.; Heino, M.; Fadeyev, V.; Tiulpakov, A.; Battelino, T.; Tar, A.; Halasz, Z.; Blumel, P.; Tawfik, S.; Krohn, K.; Lebl, J.; Peterson, P.; MEWPE-APECED Study Group: Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED. Hum. Mutat. 18: 225-232, 2001.
[0033766]24354.Clemente, M. G.; Obermayer-Straub, P.; Meloni, A.; Strassburg, C. P.; Arangino, V.; Tukey, R. H.; de Virgiliis, S.; Manns, M. P. : Cytochrome P450 1A2 is a hepatic autoantigen in autoimmune polyglandular syndrome type 1. J. Clin. Endocr. Metab. 82: 1353-1361, 1997.
[0033767]24355.Craig, J. M.; Schiff, L. H.; Boone, J. E.: Chronic moniliasis associated with Addison's disease. Am. J. Dis. Child. 89: 669-684, 1955.
[0033768]24356.Ekwall, O.; Hedstrand, H.; Haavik, J.; Perheentupa, J.; Betterle, C.; Gustafsson, J.; Husebye, E.; Rorsman, F.; Kampe, O.: Pteridin-dependent hydroxylases as autoantigens in autoimmune polyendocrine syndrome type I. J. Clin. Endocr. Metab. 85: 2944-2950, 2000.
[0033769]24357.Cetani, F.; Barbesino, G.; Borsari, S.; Pardi, E.; Cianferotti, L.; Pinchera, A.; Marcocci, C.: A novel mutation of the autoimmune regulator gene in an Italian kindred with autoimmune polyendrocrinopathy-candidiasis-ectodermal dystrophy, acting in a dominant fashion and strongly cosegregating with hypothyroid autoimmune thyroiditis. J. Clin. Endocr. Metab. 86: 4747-4752, 2001.
[0033770]24358.Finnish-German APECED Consortium: An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. Nature Genet. 17: 399-403, 1997.
[0033771]24359.Foz, M.; Mirada, A.; Guardia, J.: Endocrine disorders in a family. (Letter) Lancet II: 269 only, 1970.
[0033772]24360.Gass, J. D. M.: The syndrome of keratoconjunctivitis, superficial moniliasis, idiopathic hypoparathyroidism and Addison's disease. Am. J. Ophthal. 54: 660-674, 1962.
[0033773]24361.Gylling, M.; Tuomi, T.; Bjorses, P.; Kontiainen, S.; Partanen, J.; Christie, M. R.; Knip, M.; Perheentupa, J.; Miettinen, A.: Beta-cell autoantibodies, human leukocyte antigen II alleles, and type 1 diabetes in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. J. Clin. Endocr. Metab. 85: 4434-4440, 2000.
[0033774]24362.Hedstrand, H.; Ekwall, O.; Haavik, J.; Landgren, E.; Betterle, C.; Perheentupa, J.; Gustafsson, J.; Husebye, E.; Rorsman, F.; Kampe, O.: Identification of tyrosine hydroxylase as an autoantigen in autoimmune polyendocrine syndrome type I. Biochem. Biophys. Res. Commun. 267: 456-461, 2000.
[0033775]24363.Heino, M.; Peterson, P.; Kudoh, J.; Shimizu, N.; Antonarakis, S. E.; Scott, H. S.; Krohn, K.: APECED mutations in the autoimmune regulator (AIRE) gene. Hum. Mutat. 18: 205-211, 2001.
[0033776]24364.Heino, M.; Scott, H. S.; Chen, Q.; Peterson, P.; Maenpaa, U.; Papasavvas, M.-P.; Mittaz, L.; Barras, C.; Rossier, C.; Chrousos, G. P.; Stratakis, C. A.; Nagamine, K.; Kudoh, J.; Shimizu, N.; Maclaren, N.; Antonarakis, S. E.; Krohn, K.: Mutation analyses of North American APS-1 patients. Hum. Mutat. 13: 69-74, 1999.
[0033777]24365.Hendrix, T. R.: Personal Communication. Baltimore, Md. 1/14/1985.
[0033778]24366.Hiekkala, H.: Idiopathic hypoparathyroidism, adrenal insufficiency and moniliasis in children. Ann. Paediat. Fenn. 10: 213-222, 1964.
[0033779]24367.Hung, W.; Migeon, C. J.; Parrott, R. H.: A possible autoimmune basis for Addison's disease in three siblings, one with idiopathic hypoparathyroidism, pernicious anemia and superficial moniliasis. New Eng. J. Med. 269: 658-663, 1963.
[0033780]24368.Husebye, E. S.; Gebre-Medhin, G.; Tuomi, T.; Perheentupa, J.; Landin-Olsson, M.; Gustafsson, J.; Rorsman, F.; Kampe, O.: Autoantibodies against aromatic L-amino acid decarboxylase in autoimmune polyendocrine syndrome type I. J. Clin. Endocr. Metab. 82: 147-150, 1997.
[0033781]24369.Ishii, T.; Suzuki, Y.; Ando, N.; Matsuo, N.; Ogata, T.: Novel mutations of the autoimmune regulator gene in two siblings with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. J. Clin. Endocr. Metab. 85: 2922-2926, 2000.
[0033782]24370.Kenny, F. M.; Holliday, M. D.: Hypoparathyroidism, moniliasis, Addison's and Hashimoto's disease. Hypercalcemia treated with intravenously administered sodium sulfate. New Eng. J. Med. 271: 708-713, 1964.
[0033783]24371.Krohn, K.; Uibo, R.; Aavik, E.; Peterson, P.; Savilahti, K.: Identification by molecular cloning of an autoantigen associated with Addison's disease as steroid 17-alpha-hydroxylase. Lancet 339: 770-773, 1992.
[0033784]24372.Kunin, A. S.; MacKay, B. R.; Burns, S. L.; Halberstam, M. J.: The syndrome of hypoparathyroidism and adrenocortical insufficiency, a possible sequel of hepatitis: case report and review of the literature. Am. J. Med. 34: 856-866, 1963.
[0033785]24373.Louria, D. B.; Shannon, D. C.; Johnson, G.; Caroline, L.; Okas, A.; Taschdjian, C.: The susceptibility to moniliasis in children with endocrine hypofunction. Trans. Assoc. Am. Phys. 80: 236-249, 1967.
[0033786]24374.Maghnie, M.; Cosi, G.; Genovese, E.; Manca-Bitti, M. L.; Cohen, A.; Zecca, S.; Tinelli, C.; Gallucci, M.; Bernasconi, S.; Boscherini, B.; Severi, F.; Arico, M.: Central diabetes insipidus in children and young adults. New Eng. J. Med. 343: 998-1007, 2000.
[0033787]24375.Marieb, N. J.; Melby, J. C.; Lyall, S. S.: Isolated hypoaldosteronism associated with idiopathic hypoparathyroidism. Arch. Intern. Med. 134: 424-429, 1974.
[0033788]24376.McKusick, V. A.: Personal Communication. Baltimore, Md. 1985.
[0033789]24377.Meloni, A.; Perniola, R.; Faa, V.; Corvaglia, E.; Cao, A.; Rosatelli, M. C.: Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy. J. Clin. Endocr. Metab. 87: 841-846, 2002.
[0033790]24378.Nagamine, K.; Peterson, P.; Scott, H. S.; Kudoh, J.; Minoshima, S.; Heino, M.; Krohn, K. J. E.; Lalioti, M. D.; Mullis, P. E.; Antonarakis, S. E.; Kawasaki, K.; Asakawa, S.; Ito, F.; Shimizu, N.: Positional cloning of the APECED gene. Nature Genet. 17: 393-398, 1997.
[0033791]24379.Neufeld, M.; Maclaren, N.; Blizzard, R.: Autoimmune polyglandular syndrome. Pediat. Ann. 9: 154-162, 1980.
[0033792]24380.Neufeld, M.; Maclaren, N. K.; Blizzard, R. M.: Two types of autoimmune Addison's disease associated with different polyglandular autoimmune (PGA) syndromes. Medicine 60: 355-362, 1981.
[0033793]24381.Nithiyananthan, R.; Heward, J. M.; Allahabadia, A.; Barnett, A. H.; Franklyn, J. A.; Gough, S. C. L.: A heterozygous deletion of the autoimmune regulator (AIRE1) gene, autoimmune thyroid disease, and type 1 diabetes: no evidence for association. J. Clin. Endocr. Metab. 85: 1320-1322, 2000.
[0033794]24382.Okano, M.; Bell, D. W.; Haber, D. A.; Li, E.: DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development. Cell 99: 247-257, 1999.
[0033795]24383.Wijmenga, C.; van den Heuvel, L. P. W. J.; Strengman, E.; Luyten, J. A. F. M.; van der Burgt, I. J. A. M.; de Groot, R.; Smeets, D. F. C. M.; Draaisma, J. M. T.; van Dongen, J. J.; De Abreu, R. A.; Pearson, P. L.; Sandkuijl, L. A.; Weemaes, C. M. R.: Localization of the ICF syndrome to chromosome 20 by homozygosity mapping. Am. J. Hum. Genet. 63: 803-809, 1998.
[0033796]24384.Xu, G.-L.; Bestor, T. H.; Bourc'his, D.; Hsieh, C.-L.; Tommerup, N.; Bugge, M.; Hulten, M.; Qu, X.; Russo, J. J.; Viegas-Pequignot, E.: Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. Nature 402: 187-191, 1999.
[0033797]24385.Yamamoto, T.; Ninomiya, H.; Matsumoto, M.; Ohta, Y.; Nanba, E.; Tsutsumi, Y.; Yamakawa, K.; Millat, G.; Vanier, M. T.; Pentchev, P. G.; Ohno, K.: Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts. J. Med. Genet. 37: 707-711, 2000.
[0033798]24386.Alagille, D.; Josso, F.; Binet, J. L.; Blin, M. L.: La dystrophie thrombocytaire hemorragipare: discussion nosologique. Nouv. Rev. Franc. Hemat. 4: 755-790, 1964.
[0033799]24387.Awidi, A. S.: Increased incidence of Glanzmann's thrombasthenia in Jordan as compared with Scandinavia. Scand. J. Haemat. 30: 218-222, 1983.
[0033800]24388.Basani, R .B.; Vilaire, G.; Shattil, S. J.; Kolodziej, M. A.; Bennett, J. S.; Poncz, M.: Glanzmann thrombasthenia due to a two amino acid deletion in the fourth calcium-binding domain of alphaIIb: demonstration of the importance of calcium-binding domains in the conformation of alphaIIb/beta3. Blood 88: 167-173, 1996.
[0033801]24389.Bellucci, S.; Devergie, A.; Gluckman, E.; Tobelem, G.; Lethielleux, P.; Benbunan, M.; Schaison, G.; Boiron, M.: Complete correction of Glanzmann's thrombasthenia by allogeneic bonemarrow transplantation. Brit. J. Haemat. 59: 635-641, 1985.
[0033802]24390.Beutler, E.: Glanzmann's thrombasthenia and reduced glutathione. New Eng. J. Med. 287: 1094-1095, 1972.
[0033803]24391.Bowie, E. J. W.; Owen, C. A., Jr.: Thrombopathy. Seminars Hemat. 5: 73-82, 1968.
[0033804]24392.Bowie, E. J. W.; Thompson, J. H., Jr.; Owen, C. A., Jr.: A new abnormality of platelet function. Thromb. Diath. Haemorrh. 11: 195-203, 1964.
[0033805]24393.Bray, P. F.: Inherited diseases of platelet glycoproteins: considerations for rapid molecular characterization. Thromb. Haemost. 72: 492-502, 1994.
[0033806]24394.Bray, P. F.; Barsh, G.; Rosa, J.-P.; Luo, X. Y.; Magenis, E.; Shuman, M. A.: Physical linkage of the genes for platelet membrane glycoproteins IIb and IIIa. Proc. Nat. Acad. Sci. 85: 8683-8687, 1988.
[0033807]24395.Bray, P. F.; Rosa, J.-P.; Johnston, G. I.; Shiu, D. T.; Cook, R. G.; Lau, C.; Kan, Y. W.; McEver, R. P.; Shuman, M. A.: Platelet glycoprotein IIb: chromosomal localization and tissue expression. J. Clin. Invest. 80: 1812-1817, 1987.
[0033808]24396.Bray, P. F.; Rosa, J.-P.; Lingappa, V. R.; Kan, Y. W.; McEver, R. P.; Shuman, M. A.: Biogenesis of the platelet receptor for fibrinogen: evidence for separate precursors for glycoproteins IIb and IIIa. Proc. Nat. Acad. Sci. 83: 1480-1484, 1986.
[0033809]24397.Burk, C. D.; Newman, P. J.; Lyman, S.; Gill, J.; Coller, B. S.; Poncz, M.: A deletion in the gene for glycoprotein IIb associated with Glanzmann's thrombasthenia. J. Clin. Invest. 87: 270-276, 1991.
[0033810]24398.Coller, B. S.; Seligsohn, U.; Little, P. A.: Type I Glanzmann thrombasthenia patients from the Iraqi-Jewish and Arab populations in Israel can be differentiated by platelet glycoprotein IIIa immunoblot analysis. Blood 69: 1696-1703, 1987.
[0033811]24399.Corby, D. G.; Zirbel, C. L.; Lindley, A.; Schulman, I.: Thrombasthenia. Am. J. Dis. Child. 121: 140-144, 1971.
[0033812]24400.Cronberg, S.; Nilsson, I. M.; Zetterqvist, E.: Investigation of a family with members with both severe and mild degree of thrombasthenia. Acta Paediat. Scand. 56: 189-197, 1967.
[0033813]24401.Chuang, D. T.; Shih, V. E.: Disorders of branched chain amino acid and keto acid metabolism.In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D.: Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill (pub.) (7th ed.): 1995. Pp. 1239-1277.
[0033814]24402.Barth, M. L.; Fensom, A.; Harris, A.: Missense mutations in the arylsulphatase A genes of metachromatic leukodystrophy patients. Hum. Molec. Genet. 2: 2117-2121, 1993.
[0033815]24403.Barth, M. L.; Fensom, A.; Harris, A.: Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain. Hum. Genet. 91: 73-77, 1993.
[0033816]24404.Lake, B. D.; Smith, V. V.; Judge, M. R.; Harper, J. I.; Besley, G. T. N.: Hexanol dehydrogenase activity shown by enzyme histochemistry on skin biopsies allows differentiation of Sjogren-Larsson syndrome from other ichthyoses. J. Inherit. Metab. Dis. 14: 338-340, 1991.
[0033817]24405.Link, J. K.; Roldan, E. C.: Mental deficiency, spasticity, and congenital ichthyosis: report of a case. J. Pediat. 52: 712-714, 1958.
[0033818]24406.Pigg, M.; Jagell, S.; Sillen, A.; Weissenbach, J.; Gustavson, K.-H.; Wadelius, C.: The Sjogren-Larsson syndrome gene is close to D17S805 as determined by linkage analysis and allelic association. Nature Genet. 8: 361-364, 1994.
[0033819]24407.Rayner, A.; Lampert, R. P.; Rennert, O. M.: Familial ichthyosis, dwarfism, mental retardation, and renal disease. J. Pediat. 92: 766-768, 1978.
[0033820]24408.Richards, B. W.: Congenital ichthyosis, spastic diplegia and mental deficiency. (Letter) Brit. Med. J. 2: 714 only, 1960.
[0033821]24409.Rizzo, W. B.; Carney, G.; Lin, Z.: The molecular basis of Sjogren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene. Am. J. Hum. Genet. 65: 1547-1560, 1999.
[0033822]24410.Rizzo, W. B.; Craft, D. A.: Sjogren-Larsson syndrome: deficient activity of the fatty aldehyde dehydrogenase component of fatty alcohol:NAD+ oxidoreductase in cultured fibroblasts. J. Clin. Invest. 88: 1643-1648, 1991.
[0033823]24411.Rizzo, W. B.; Dammann, A. L.; Craft, D.; Black, S.; Henderson Tilton, A.; Africk, D.; Chaves-Carballo, E.: Sjogren-Larsson syndrome: deficient fatty alcohol:NAD+ oxidoreductase (FAO) activity in mixed leukocytes. (Abstract) Am. J. Hum. Genet. 41: A16 only, 1987.
[0033824]24412.Rizzo, W. B.; Dammann, A. L.; Craft, D. A.: Sjogren-Larsson syndrome: impaired fatty alcohol oxidation in cultured fibroblasts due to deficient fatty alcohol:nicotinamide adenine dinucleotide oxidoreductase activity. J. Clin. Invest. 81: 738-744, 1988.
[0033825]24413.Rizzo, W. B.; Dammann, A. L.; Craft, D. A.; Black, S. H.; Henderson Tilton, A.; Africk, D.; Chaves-Carballo, E.; Holmgren, G.; Jagell, S.: Sjogren-Larsson syndrome: inherited defect in the fatty alcohol cycle. J. Pediat. 115: 228-234, 1989.
[0033826]24414.Rogers, G. R.; Markova, N. G.; De Laurenzi, V.; Rizzo, W. B.; Compton, J. G.: Genomic organization and expression of the human fatty aldehyde dehydrogenase gene (FALDH). Genomics 39: 127-135, 1997.
[0033827]24415.Rogers, G. R.; Rizzo, W. B.; Zlotogorski, A.; Hashem, N.; Lee, M.; Bale, S. J.; Compton, J. G.: Sjogren-Larsson syndrome (SLS) and fatty aldehyde dehydrogenase (FALDH) genes map to chromosome 17p. (Abstract) Am. J. Hum. Genet. 57: A202 only, 1995.
[0033828]24416.Rogers, G. R.; Rizzo, W. B.; Zlotogorski, A.; Hashem, N.; Lee, M.; Compton, J. G.; Bale, S. J.: Genetic homogeneity in Sjogren-Larsson syndrome: linkage to chromosome 17p in families of different non-Swedish ethnic origins. Am. J. Hum. Genet. 57: 1123-1129, 1995.
[0033829]24417.Selmanowitz, V. J.; Porter, M. J.: The Sjogren-Larsson syndrome. Am. J. Med. 42: 412-422, 1967.
[0033830]24418.Sillen, A.; Anton-Lamprecht, I.; Braun-Quentin, C.; Kraus, C. S.; Sayli, B. S.; Ayuso, C.; Jagell, S.; Kuster, W.; Wadelius, C. : Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjogren-Larsson syndrome. Hum. Mutat. 12: 377-384, 1998.
[0033831]24419.Sillen, A.; Holmgren, G.; Wadelius, C.: First prenatal diagnosis by mutation analysis in a family with Sjogren-Larsson syndrome. Prenat. Diag. 17: 1147-1149, 1997.
[0033832]24420.Sillen, A.; Jagell, S.; Wadelius, C.: A missense mutation in the FALDH gene identified in Sjogren-Larsson syndrome patients originating from the northern part of Sweden. Hum. Genet. 100: 201-203, 1997.
[0033833]24421.Sjogren, T.: Oligophrenia combined with congenital ichthyosiform erythrodermia, spastic syndrome and macular retinal degeneration: a clinical and genetic study. Acta Genet. Statist. Med. 6: 80-91, 1956.
[0033834]24422.Sjogren, T.; Larsson, T.: Oligophrenia in combination with congenital ichthyosis and spastic disorders: a clinical and genetic study. Acta Psychiat. Neurol. Scand. 32 (suppl. 113): 1-112, 1957.
[0033835]24423.Tsukamoto, N.; Chang, C.; Yoshida, A.: Mutations associated with Sjogren-Larsson syndrome. Ann. Hum. Genet. 61: 235-242, 1997.
[0033836]24424.Willemsen, M. A. A. P.; Cruysberg, J. R. M.; Rotteveel, J. J.; Aandekerk, A. L.; Van Domburg, P. H. M. F.; Deutman, A. F.: Juvenile macular dystrophy associated with deficient activity of fatty aldehyde dehydrogenase in Sjogren-Larsson syndrome. Am. J. Ophthal. 130: 782-789, 2000.
[0033837]24425.Zaleski, W. A.: Congenital ichthyosis, mental retardation and spasticity (Sjogren-Larsson syndrome). Canad. Med. Assoc. J. 86: 951-954, 1962.
[0033838]24426.Zhang, M.; Dwyer, N. K.; Love, D. C.; Cooney, A.; Comly, M.; Neufeld, E.; Pentchev, P. G.; Blanchette-Mackie, E. J.; Hanover, J. A.: Cessation of rapid late endosomal tubulovesicular trafficking in Niemann-Pick type C1 disease. Proc. Nat. Acad. Sci. 98: 4466-4471, 2001.
[0033839]24427.Loeffen, J.; Elpeleg, O.; Smeitink, J.; Smeets, R.; Stockler-Ipsiroglu, S.; Mandel, H.; Sengers, R.; Trijbels, F.; van den Heuvel, L.: Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy. Ann. Neurol. 49: 195-201, 2001.
[0033840]24428.Smeitink, J.; van den Heuvel, L.: Human mitochondrial complex I in health and disease. Am. J. Hum. Genet. 64: 1505-1510, 1999.
[0033841]24429.Baumgartner, E. R.; Suormala, T.; Wick, H.; Bausch, J.; Bonjour, J.-P.: Biotinidase deficiency: factors responsible for the increased biotin requirement. J. Inherit. Metab. Dis. 8 (suppl. 1): 59-64, 1985.
[0033842]24430.Burlina, A. B.; Sherwood, W. G.; Marchioro, M. V.; Dalla Bernardina, B.; Gaburro, D.: Neonatal screening for biotinidase deficiency in north eastern Italy. Europ. J. Pediat. 147: 317-318, 1988.
[0033843]24431.Cole, H.; Reynolds, T. R.; Lockyer, J. M.; Buck, G. A.; Denson, T.; Spence, J. E.; Hymes, J.; Wolf, B.: Human serum biotinidase: cDNA cloning, sequence, and characterization. J. Biol. Chem. 269: 6566-6570, 1994.
[0033844]24432.Cole, H.; Weremowicz, S.; Morton, C. C.; Wolf, B.: Localization of serum biotinidase (BTD) to human chromosome 3 in band p25. Genomics 22: 662-663, 1994.
[0033845]24433.Dionisi-Vici, C.; Bachmann, C.; Graziani, M. C.; Sabetta, G.: Laryngeal stridor as a leading symptom in a biotinidase-deficient patient. J. Inherit. Metab. Dis. 11: 312-313, 1988.
[0033846]24434.Dunkel, G.; Scriver, C. R.; Clow, C. L.; Melancon, S.; Lemieux, B.; Grenier, A.; Laberge, C.: Prospective ascertainment of complete and partial serum biotinidase deficiency in the newborn. J. Inherit. Metab. Dis. 12: 131-138, 1989.
[0033847]24435.Fischer, A.; Munnich, A.; Saudubray, J. M.; Mamas, S.; Coude, F. X.; Charpentier, C.; Dray, F.; Frezal, J.; Griscelli, C.: Biotin-responsive immunoregulatory dysfunction in multiple carboxylase deficiency. J. Clin. Immun. 2: 35-38, 1982.
[0033848]24436.Gaudry, M.; Munnich, A.; Saudubray, J. M.; Ogier, H.; Mitchell, G.; Marsac, C.; Causse, M.; Marquet, A.; Frezal, J.: Deficient liver biotinidase activity in multiple carboxylase deficiency. (Letter) Lancet II: 397, 1983.
[0033849]24437.Giardini, O.; D'Eufemia, P.; Cantani, A.; Ruberto, U.; Sabetta, G.; Castro, M.; Cardi, E.: Congenital lactic acidosis associated with laryngeal stridor: report of 2 cases. Riv. Ital. Pediat. 7: 139-142, 1981.
[0033850]24438.Gordon, A.: Biotinidase mutational 'hotspot'. (Letter) Nature Genet. 13: 144-145, 1996.
[0033851]24439.Greter, J.; Holme, E.; Lindstedt, S.; Koivikko, M.: Biotin-responsive 3-methylcrotonylglycinuria with biotinidase deficiency. J. Inherit. Metab. Dis. 8: 103-104, 1985.
[0033852]24440.Hart, P. S.; Hymes, J.; Wolf, B.: Biochemical and immunological characterization of serum biotinidase in profound biotinidase deficiency. Am. J. Hum. Genet. 50: 126-136, 1992.
[0033853]24441.Heard, G. S.; Wolf, B.; Jefferson, L. G.; Weissbecker, K. A.; Nance, W. E.; Secor McVoy, J. R.; Napolitano, A.; Mitchell, P. L.; Lambert, F. W.; Linyear, A. S.: Neonatal screening for biotinidase deficiency: results of a 1-year pilot study. J. Pediat. 108: 40-46, 1986.
[0033854]24442.Hymes, J.; Stanley, C. M.; Wolf, B.: Mutations in BTD causing biotinidase deficiency. Hum. Mutat. 18: 375-381, 2001.
[0033855]24443.Kalayci, O.; Coskun, T.; Tokatli, A.; Demir, E.; Erdem, G.; Gungor, C.; Yukselen, A.; Ozalp, I.: Infantile spasms as the initial symptom of biotinidase deficiency. J. Pediat. 124: 103-104, 1994.
[0033856]24444.Kennedy, R.; Girdwood, R. W. A.; King, M. D.: Neonatal screening for biotinidase deficiency: a pilot study in Scotland. J. Inherit. Metab. Dis. 12: 344-345, 1989.
[0033857]24445.Minns, R. A.; Kirk, J.: Biotinidase deficiency in Scotland. (Letter) Dev. Med. Child Neurol. 36: 748-749, 1994.
[0033858]24446.Muhl, A.; Moslinger, D.; Item, C. B.; Stockler-Ipsiroglu, S.: Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation. Europ. J. Hum. Genet. 9: 237-243, 2001.
[0033859]24447.Munnich, A.; Saudubray, J. M.; Carre, G.; Coude, F. X.; Ogier, H.; Charpentier, C.; Frezal, J.: Defective biotin absorption in multiple carboxylase deficiency. (Letter) Lancet II: 263 only, 1981.
[0033860]24448.Norrgard, K. J.; Pomponio, R. J.; Hymes, J.; Wolf, B.: Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children. Pediat. Res. 46: 20-27, 1999.
[0033861]24449.Norrgard, K. J.; Swango, K. L.; Wolf, B.: Mutation (D444H) in the biotinidase gene causes approximately 50% loss of enzyme activity and is common in the general population. (Abstract) Am. J. Hum. Genet. (Suppl.) 59: A275 only, 1996.
[0033862]24450.Pomponio, R. J.; Coskun, T.; Demirkol, M.; Tokatli, A.; Ozalp, I.; Huner, G.; Baykal, T.; Wolf, B.: Novel mutations cause biotinidase deficiency in Turkish children. J. Inherit. Metab. Dis. 23: 120-128, 2000.
[0033863]24451.Pomponio, R. J.; Hymes, J.; Reynolds, T. R.; Meyers, G. A.; Fleischhauer, K.; Buck, G. A.; Wolf, B.: Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis. Pediat. Res. 42: 840-848, 1997.
[0033864]24452.Pomponio, R. J.; Narasimahan, V.; Reynolds, T. R.; Buck, G. A.; Povirk, L. F.; Wolf, B.: Deletion/insertion mutation that causes biotinidase deficiency may result from the formation of a quasipalindromic structure. Hum. Molec. Genet. 5: 1657-1661, 1996.
[0033865]24453.Pomponio, R. J.; Norrgard, K. J.; Hymes, J.; Reynolds, T. R.; Buck, G. A.; Baumgartner, R.; Suormala, T.; Wolf, B.: Arg538 to cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of profound biotinidase deficiency in symptomatic children. Hum. Genet. 99: 506-512, 1997.
[0033866]24454.Pomponio, R. J.; Reynolds, T. R.; Cole, H.; Buck, G. A.; Wolf, B.: Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency. Nature Genet. 11: 96-98, 1995.
[0033867]24455.Pomponio, R. J.; Reynolds, T. R.; Mandel, H.; Admoni, O.; Melone, P. D.; Buck, G. A.; Wolf, B.: Profound biotinidase deficiency caused by a point mutation that creates a downstream cryptic 3-prime splice acceptor site within an exon of the human biotinidase gene. Hum. Molec. Genet. 6: 739-745, 1997.
[0033868]24456.Packman, S.; Sweetman, L.; Baker, H.; Wall, S.: The neonatal form of biotinresponsive multiple carboxylase deficiency. J. Pediat. 99: 418-420, 1981.
[0033869]24457.Packman, S.; Sweetman, L.; Yoshino, M.; Baker, H.; Cowan, M.: Biotin-responsive multiple carboxylase deficiency of infantile onset. J. Pediat. 99: 421-423, 1981.
[0033870]24458.Daiger, S. P.; Lidsky, A. S.; Chakraborty, R.; Koch, R.; Guttler, F.; Woo, S. L. C.: Polymorphic DNA haplotypes at the phenylalanine hydroxylase locus in prenatal diagnosis of phenylketonuria. Lancet I: 229-231, 1986.
[0033871]24459.Pizarro, T. T.; Michie, M. H.; Bentz, M.; Woraratanadharm, J.; Smith, M. F., Jr.; Foley, E.; Moskaluk, C. A.; Bickston, S. J.; Cominelli, F.: IL-18, a novel immunoregulatory cytokine, is upregulated in Crohn's disease: expression and localization in intestinal mucosal cells. J. Immun. 162: 6829-6835, 1999.
[0033872]24460.Oggiano, L.; Pirastu, M.; Moi, P.; Longinotti, M.; Perseu, L.; Cao, A.: Molecular characterization of a normal HbA-2 beta-thalassemia determinant in a Sardinian family. Brit. J. Haemat. 67: 225-229, 1987.
[0033873]24461.Ohba, Y.; Igarashi, M.; Tsukahara, M.; Nakashima, M.; Sanada, C.; Ami, M.; Arai, Y.; Miyaji, T.: Hb A(2) Yokoshima, delta25(B7) gly-to-asp, a new delta chain variant found in a Japanese family. Hemoglobin 9: 613-615, 1985.
[0033874]24462.Ostertag, W.; Smith, E. W.: Hemoglobin-Lepore-Baltimore, a third type of a delta, beta crossover (delta 50, beta 86). Europ. J. Biochem. 10: 371-376, 1969.
[0033875]24463.Papadakis, M.; Drakoulakou, O.; Papapanagiotou, E.; Pessini, D.; Loutradi-Anagnostou, A.: Hb A(2)-Agrinio (delta-43(CD2)glu-to-gly (GAG-to-GGG)): a new delta-chain variant detected in a Greek family. Hemoglobin 19: 295-299, 1995.
[0033876]24464.Petes, T. D.: Evidence that structural variants within the human delta-globin protein may reflect genetic interactions between the delta- and beta-globin genes. (Letter) Am. J. Hum. Genet. 34: 820-823, 1982.
[0033877]24465.Ramirez, F.; Mears, J. G.; Nudel, U.; Bank, A.; Luzzatto, L.; Di Prisco, G.; D'Avino, R.; Pepe, G.; Gambino, R.; Cimino, R.; Quattrin, N.: Defects in DNA and globin messenger RNA in homozygotes for hemoglobin Lepore. J. Clin. Invest. 63: 736-742, 1979.
[0033878]24466.Ranney, H. M.; Jacobs, A. S.: Simultaneous occurrence of haemoglobins C and Lepore in an Afro-American. Nature 204: 163-166, 1964.
[0033879]24467.Ranney, H. M.; Jacobs, A. S.; Ramot, B.; Bradley, T. B., Jr.: Hemoglobin NYU, a delta chain variant, alpha 2 delta 2(12 lys). J. Clin. Invest. 48: 2057-2062, 1969.
[0033880]24468.Renda, M.; Piazza, T.; Ciaccio, C.; Maggio, A.: Delta(+)-27 homozygosis in a Sicilian family. Haematologica 77: 82-83, 1992.
[0033881]24469.Rieder, R. F.; Clegg, J. B.; Weiss, H. J.; Christy, N. P.; Rabinowitz, R.: Hemoglobin A-2-Roosevelt: delta 20 val-to-glu. Biochim. Biophys. Acta 439: 501-504, 1976.
[0033882]24470.Romero Garcia, C.; Navarro, J. L.; Lam, H.; Webber, B. B.; Headlee, M. G.; Wilson, J. B.; Huisman, T. H. J.: Hb A(2)-Manzanares or delta 121(GH4) glu-to-val, an unstable delta chain variant observed in a Spanish family. Hemoglobin 7: 435-442, 1983.
[0033883]24471.Salkie, M. L.; Gordon, P. A.; Rigal, W. M.; Lam, H.; Wilson, J. B.; Headlee, M. E.; Huisman, T. H. J.: Hb A2-Canada or delta 99(G1) asp-to-asn, a newly discovered delta chain variant with increased oxygen affinity occurring in cis to beta-thalassemia. Hemoglobin 6: 223-231, 1982.
[0033884]24472.Schiliro, G.; Russo-Mancuso, G.; Dibenedetto, S. P.; Samperi, P.; Di Cataldo, A.; Ragusa, R.; Testa, R.: Six rare hemoglobin variants found in Sicily. Hemoglobin 15: 431-437, 1991.
[0033885]24473.Sharma, R. S.; Harding, D. L.; Wong, S. D.; Wilson, J. B.; Gravely, M. E.; Huisman, T. H. J.: A new delta chain variant, hemoglobin-A2 Melbourne, or delta 43 glu-to-lys (CD2). Biochim. Biophys. Acta 359: 233-235, 1974.
[0033886]24474.Sharma, R. S.; Williams, L.; Wilson, J. B.; Huisman, T. H. J. : Hemoglobin A(2) Coburg or alpha-2-delta-2 116 arg-to-his (G18). Biochim. Biophys. Acta 393: 379-382, 1975.
[0033887]24475.Spritz, R. A.; DeRiel, J. K.; Forget, B. G.; Weissman, S. M.: Complete nucleotide sequence of the human delta-globin gene. Cell 21: 639-646, 1980.
[0033888]24476.Trifillis, P.; Ioannou, P.; Schwartz, E.; Surrey, S.: Identification of four novel deltaglobin gene mutations in Greek Cypriots using polymerase chain reaction and automated fluorescencebased DNA sequence analysis. Blood 78: 3298-3305, 1991.
[0033889]24477.Vella, F.; Graham, B.: A variant of hemoglobin A(2) in Alberta Indians. Clin. Biochem. 2: 455-460, 1969.
[0033890]24478.Williamson, D.; Brennan, S. O.; Strosberg, H.; Whitty, J.; Carell, R. W.: Hemoglobin A(2) Fitzroy delta142 ala-to-asp: a new delta-chain variant. Hemoglobin 8: 325-332, 1984.
[0033891]24479.Wilson, J. T.; Wilson, L. B.; Ohta, Y.: A case of homozygous delta-thalassemia not due to a deletion of the delta-globin structural gene. Biochem. Biophys. Res. Commun. 99: 1035-1039, 1981.
[0033892]24480.Le Coniat, M.; Kinet, J. P.; Berger, R.: The human genes for the alpha and gamma subunits of the mast cell receptor for immunoglobulin E are located on human chromosome band 1q23. Immunogenetics 32: 183-186, 1990.
[0033893]24481.Pestka, S.: The human interferons--from protein purification and sequence to cloning and expression in bacteria: before, between, and beyond. Arch. Biochem. Biophys. 221: 1-37, 1983.
[0033894]24482.Sehgal, P. B.; Sagar, A. D.; Braude, I. A.: Further heterogeneity of human alphainterferon mRNA species. Science 214: 803-805, 1981.
[0033895]24483.Shows, T. B.; Sakaguchi, A. Y.; Naylor, S. L.; Goeddel, D. V.; Lawn, R. M.: Clustering of leukocyte and fibroblast interferon genes on human chromosome 9. Science 218: 373-374, 1982.
[0033896]24484.Slate, D. L.; D'Eustachio, P.; Pravtcheva, D.; Cunningham, A. C.; Nagata, S.; Weissmann, C.; Ruddle, F. H.: Chromosomal location of a human alpha interferon gene family. J. Exp. Med. 155: 1019-1024, 1982.
[0033897]24485.Trent, J. M.; Olson, S.; Lawn, R. M.: Chromosomal localization of human leukocyte, fibroblast and immune interferon genes by means of in situ hybridization. Proc. Nat. Acad. Sci. 79: 7809-7813, 1982.
[0033898]24486.Ullrich, A.; Gray, A.; Goeddel, D. V.; Dull, T. J.: Nucleotide sequence of a portion of human chromosome 9 containing a leukocyte interferon gene cluster. J. Molec. Biol. 156: 467-486, 1982.
[0033899]24487.Virelizier, J. L.; Griscelli, C.: Defaut selectif de secretion d'interferon associe a un deficit d'activite cytotoxique naturelle. Arch. Franc. Pediat. 38: 77-81, 1981.
[0033900]24488.Virelizier, J. L.; Lenoir, G.; Griscelli, C.: Persistent Epstein-Barr virus infection in a child with hypergammaglobulinaemia and immunoblastic proliferation associated with a selective defect in interferon secretion. Lancet II: 231-234, 1978.
[0033901]24489.'t Hart, L. M.; Stolk, R. P.; Heine, R. J.; Grobbee, D. E.; van der Does, F. E. E.; Maassen, J. A.: Association of the insulin-receptor variant met-985 with hyperglycemia and non-insulindependent diabetes mellitus in the Netherlands: a population-based study. Am. J. Hum. Genet. 59: 1119-1125, 1996.
[0033902]24490.Accili, D.; Drago, J.; Lee, E. J.; Johnson, M. D.; Cool, M. H.; Salvatore, P.; Asico, L. D.; Jose, P. A.; Taylor, S. I.; Westphal, H.: Early neonatal death in mice homozygous for a null allele of the insulin receptor gene. Nature Genet. 12: 106-109, 1996.
[0033903]24491.Accili, D.; Frapier, C.; Mosthaf, L.; McKeon, C.; Elbein, S. C.; Permutt, M. A.; Ramos, E.; Lander, E.; Ullrich, A.; Taylor, S. I. : A mutation in the insulin receptor gene that impairs transport of the receptor to the plasma membrane and causes insulin-resistant diabetes. EMBO J. 8: 2509-2517, 1989.
[0033904]24492.Al-Gazali, L. I.; Khalil, M.; Devadas, K.: A syndrome of insulin resistance resembling leprechaunism in five sibs of consanguineous parents. J. Med. Genet. 30: 470-475, 1993.
[0033905]24493.Bar, R. S.; Muggeo, M.; Roth, J.; Kahn, C. R.; Havrankova, J.; Imperato-McGinley, J.: Insulin resistance, acanthosis nigricans, and normal insulin receptors in a young woman: evidence for a postreceptor defect. J. Clin. Endocr. Metab. 47: 620-625, 1978.
[0033906]24494.Barbetti, F.; Gejman, P. V.; Taylor, S. I.; Raben, N.; Cama, A.; Bonora, E.; Pizzo, P.; Moghetti, P.; Muggeo, M.; Roth, J.: Detection of mutations in insulin receptor gene by denaturing gradient gel electrophoresis. Diabetes 41: 408-415, 1992.
[0033907]24495.Barnes, N. D.; Palumbo, P. J.; Hayles, A. B.; Folgar, H.: Insulin resistance, skin changes, and virilization: a recessively inherited syndrome possibly due to pineal gland dysfunction. Diabetologia 10: 285-289, 1974.
[0033908]24496.Belke, D. D.; Betuing, S.; Tuttle, M. J.; Graveleau, C.; Young, M. E.; Pham, M.; Zhang, D.; Cooksey, R. C.; McClain, D. A.; Litwin, S. E.; Taegtmeyer, H.; Severson, D.; Kahn, C. R.; Abel, E. D.: Insulin signaling coordinately regulates cardiac size, metabolism, and contractile protein isoform expression. J. Clin. Invest. 109: 629-639, 2002.
[0033909]24497.Benecke, H.; Flier, J. S.; Moller, D. E.: Alternatively spliced variants of the insulin receptor protein: expression in normal and diabetic human tissues. J. Clin. Invest. 89: 2066-2070, 1992.
[0033910]24498.Bruning, J. C.; Gautam, D.; Burks, D. J.; Gillette, J.; Schubert, M.; Orban, P. C.; Klein, R.; Krone, W.; Muller-Wieland, D.; Kahn, C. R.: Role of brain insulin receptor in control of body weight and reproduction. Science 289: 2122-2125, 2000.
[0033911]24499.Bruning, J. C.; Michael, M. D.; Winnay, J. N.; Hayashi, T.; Horsch, D.; Accili, D.; Goodyear, L. J.; Kahn, C. R.: A muscle-specific insulin receptor knockout exhibits features of the metabolic syndrome of NIDDM without altering glucose tolerance. Molec. Cell 2: 559-569, 1998.
[0033912]24500.Cama, A.; de la Luz Sierra, M.; Ottini, L.; Kadowaki, T.; Gorden, P.; Imperato-McGinley, J.; Taylor, S. I.: A mutation in the tyrosine kinase domain of the insulin receptor associated with insulin resistance in an obese woman. J. Clin. Endocr. Metab. 73: 894-901, 1991.
[0033913]24501.Li, Q. Y.; Newbury-Ecob, R. A.; Terrett, J. A.; Wilson, D. I.; Curtis, A. R. J.; Yi, C. H.; Gebuhr, T.; Bullen, P. J.; Robson, S. C.; Strachan, T.; Bonnet, D.; Lyonnet, S.; Young, I. D.; Raeburn, J. A.; Buckler, A. J.; Law, D. J.; Brook, J. D.: Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. Nature Genet. 15: 21-29, 1997.
[0033914]24502.Terrett, J. A.; Newbury-Ecob, R.; Cross, G. S.; Fenton, I.; Raeburn, J. A.; Young, I. D.; Brook, J. D.: Holt-Oram syndrome is a genetically heterogeneous disease with one locus mapping to human chromosome 12q. Nature Genet. 6: 401-404, 1994.
[0033915]24503.Yang, J.; Hu, D.; Xia, J.; Yang, Y.; Ying, B.; Hu, J.; Zhou, X. : Three novel TBX5 mutations in Chinese patients with Holt-Oram syndrome. Am. J. Med. Genet. 92: 237-240, 2000.
[0033916]24504.Henry, I.; Humphries, S. E.; Tata, F.; Barichard, F.; Holm, M.; Williamson, R.; Junien, C.: The gene for HMG CoA reductase (HMGCR) is on human chromosome 5. (Abstract) Cytogenet. Cell Genet. 40: 649-650, 1985.
[0033917]24505.Humphries, S. E.; Tata, F.; Henry, I.; Barichard, F.; Holm, M.; Junien, C.; Williamson, R.: The isolation, characterisation, and chromosomal assignment of the gene for human 3-hydroxy-3-methylglutaryl coenzyme A reductase, (HMG-CoA reductase). Hum. Genet. 71: 254-258, 1985.
[0033918]24506.Rutherford, S.; Johnson, M. P.; Curtain, R. P.; Griffiths, L. R.: Chromosome 17 and the inducible nitric oxide synthase gene in human essential hypertension. Hum. Genet. 109: 408-415, 2001.
[0033919]24507.Walter, J. W.; North, P. E.; Waner, M.; Mizeracki, A.; Blei, F.; Walker, J. W. T.; Reinisch, J. F.; Marchuk, D. A.: Somatic mutation of vascular endothelial growth factor receptors in juvenile hemangioma. Genes Chromosomes Cancer 33: 295-303, 2002.
[0033920]24508.Ragoussis, J.; Senger, G.; Trowsdale, J.; Campbell, I. G.: Genomic organization of the human folate receptor genes on chromosome 11q13. Genomics 14: 423-430, 1992.
[0033921]24509.Barber, R. C.; Shaw, G. M.; Lammer, E. J.; Greer, K. A.; Biela, T. A.; Lacey, S. W.; Wasserman, C. R.; Finnell, R. H.: Lack of association between mutations in the folate receptor-alpha gene and spina bifida. Am. J. Med. Genet. 76: 310-317, 1998.
[0033922]24510.Bowcock, A. M.; Lacey, S.; Saltman, D.; Mohandas, T. K.; Kamen, B. A.; Taggart, R. T.: Localization of the folate receptor gene to chromosome 11q13. (Abstract) Cytogenet. Cell Genet. 58: 1955 only, 1991.
[0033923]24511.Campbell, I. G.; Jones, T. A.; Foulkes, W. D.; Trowsdale, J.: Folate-binding protein is a marker for ovarian cancer. Cancer Res. 51: 5329-5338, 1991.
[0033924]24512.Kranes, A.; Balogh, K., Jr.: Liver disease in a patient with von Hippel-Lindau disease. New Eng. J. Med. 275: 950-959, 1966.
[0033925]24513.Lamiell, J. M.: Personal Communication. San Francisco, Calif. 9/1987.
[0033926]24514.Lamiell, J. M.; Salazar, F. G.; Hsia, Y. E.: Von Hippel-Lindau disease affecting 43 members of a single kindred. Medicine 68: 1-29, 1989.
[0033927]24515.Latif, F.; Tory, K.; Gnarra, J.; Yao, M.; Duh, F.-M.; Orcutt, M. L.; Stackhouse, T.; Kuzmin, I.; Modi, W.; Geil, L.; Schmidt, L.; Zhou, F.; Li, H.; Wei, M. H.; Chen, F.; Glenn, G.; Choyke, P.; Walther, M. M.; Weng, Y.; Duan, D.-S. R.; Dean, M.; Glavac, D.; Richards, F. M.; Crossey, P. A.; Ferguson-Smith, M. A.; Le Paslier, D.; Chumakov, I.; Cohen, D.; Chinault, A. C.; Maher, E. R.; Linehan, W. M.; Zbar, B.; Lerman, M. I.: Identification of the von Hippel-Lindau disease tumor suppressor gene. Science 260: 1317-1320, 1993.
[0033928]24516.Lee, S.; Chen, D. Y. T.; Humphrey, J. S.; Gnarra, J. R.; Linehan, W. M.; Klausner, R. D.: Nuclear/cytoplasmic localization of the von Hippel-Lindau tumor suppressor gene product is determined by cell density. Proc. Nat. Acad. Sci. 93: 1770-1775, 1996.
[0033929]24517.Lenz, T.; Thiede, H. M.; Nussberger, J.; Atlas, S. A.; Distler, A.; Schulte, K. L.: Hyperreninemia and secondary hyperaldosteronism in a patient with pheochromocytoma and von Hippel-Lindau disease. Nephron 62: 345-350, 1992.
[0033930]24518.Lindau, A.: Zur Frage der Angiomatosis Retinae und Ihrer Hirncomplikation. Acta Ophthal. 4: 193-226, 1927.
[0033931]24519.Loeb, D. B.; Pericak-Vance, M. A.; Stajich, J. M.; Vance, J. M. : A novel mutation in the von Hippel-Lindau gene. Hum. Molec. Genet. 3: 1423-1424, 1994.
[0033932]24520.Lui, W. O.; Chen, J.; Glasker, S.; Bender, B. U.; Madura, C.; Khoo, S. K.; Kort, E.; Larsson, C.; Neumann, H. P. H.; Teh, B. T. : Selective loss of chromosome 11 in pheochromocytomas associated with the VHL syndrome. Oncogene 21: 1117-1122, 2002.
[0033933]24521.Maddock, I. R.; Moran, A.; Maher, E. R.; Teare, M. D.; Norman, A.; Payne, S. J.; Whitehouse, R.; Dodd, C.; Lavin, M.; Hartley, N.; Super, M.; Evans, D. G. R.: A genetic register for von Hippel-Lindau disease. J. Med. Genet. 33: 120-127, 1996.
[0033934]24522.Maher, E. R.; Bentley, E.; Yates, J. R. W.; Barton, D.; Jennings, A.; Fellows, I. W.; Ponder, M. A.; Ponder, B. A. J.; Benjamin, C.; Harris, R.; Ferguson-Smith, M. A.: Mapping of von Hippel-Lindau disease to chromosome 3p confirmed by genetic linkage analysis. J. Neurol. Sci. 100: 27-30, 1990.
[0033935]24523.Maher, E. R.; Bentley, E.; Yates, J. R. W.; Latif, F.; Lerman, M.; Zbar, B.; Affara, N. A.; Ferguson-Smith, M. A.: Mapping of the von Hippel-Lindau disease locus to a small region of chromosome 3p by genetic linkage analysis. Genomics 10: 957-960, 1991.
[0033936]24524.Maher, E. R.; Iselius, L.; Yates, J. R. W.; Littler, M.; Benjamin, C.; Harris, R.; Sampson, J.; Williams, A.; Ferguson-Smith, M. A.; Morton, N.: Von Hippel-Lindau disease: a genetic study. J. Med. Genet. 28: 443-447, 1991.
[0033937]24525.Maher, E. R.; Yates, J. R. W.; Ferguson-Smith, M. A.: Statistical analysis of the two stage mutation model in von Hippel-Lindau disease, and in sporadic cerebellar haemangioblastoma and renal cell carcinoma. J. Med. Genet. 27: 311-314, 1990.
[0033938]24526.Mahon, P. C.; Hirota, K.; Semenza, G. L.: FIH-1: a novel protein that interacts with HIF-1-alpha and VHL to mediate repression of HIF-1 transcriptional activity. Genes Dev. 15: 2675-2686, 2001. 100. Manski, T. J.; Heffner, D. K.; Glenn, G. M.; Patronas, N. J.; Pikus, A. T.; Katz, D.; Lebovics, R.; Sledjeski, K.; Choyke, P. L.; Zbar, B.; Linehan, W. M.; Oldfield, E. H.: Endolymphatic sac tumors: a source of morbid hearing loss in von Hippel-Lindau disease. J.A.M.A. 277: 1461-1466, 1997. 101. Maxwell, P. H.; Wiesener, M. S.; Chang, G.-W.; Clifford, S. C.; Vaux, E. C.; Cockman, M. E.; Wykoff, C. C.; Pugh, C. W.; Maher, E. R.; Ratcliffe, P. J.: The tumour suppressor protein VHL targets hypoxiainducible factors for oxygen-dependent proteolysis. Nature 399: 271-275, 1999. 102. McCabe, C. M.; Flynn, H. W., Jr.; Shields, C. L.; Shields, J. A.; Regillo, C. D.; McDonald, H. R.; Berrocal, M. H.; Gass, J. D. M.; Mieler, W. F.: Juxtapapillary capillary hemangiomas: clinical features and visual acuity outcomes. Ophthalmology 107: 2240-2249, 2000. 103. McKusick, V. A.; Abbey, H.; Bettersby, E. J.; Borhani, N. O.; Boyer, S. H., IV; Cohen, B. H.; Ferguson-Smith, M. A.; Franke, F. R.; Gordon, H.; Handmaker, S. D..; Harris, W. S.; Hawkins, M. R.; and 13 others: Medical genetics 1960. J. Chronic Dis. 14: 1-198, 1961. Fig. 71. 104. Melmon, K. L.; Rosen, S. W.: Lindau's disease: review of the literature and study of a large kindred. Am. J. Med. 36: 595-617, 1964. 105. Min, J.-H.; Yang, H.; Ivan, M.; Gertler, F.; Kaelin, W. G., Jr.; Pavletich, N. P.: Structure of an HIF-1-alpha-pVHL complex: hydroxyproline recognition in signaling. Science 296: 1886-1889, 2002. 106. Mukhopadhyay, D.; Knebelmann, B.; Cohen, H. T.; Ananth, S.; Sukhatme, V. P.: The von Hippel-Lindau tumor suppressor gene product interacts with Sp1 to repress vascular endothelial growth factor promoter activity. Molec . Cell. Biol. 17: 5629-5639, 1997. 107. Neumann, H. P. H.; Berger, D. P.; Sigmund, G.; Blum, U.; Schmidt, D.; Parmer, R. J.; Volk, B.; Kirste, G.: Pheochromocytomas, multiple endocrine neoplasia type 2, and von Hippel-Lindau disease. New Eng. J. Med. 329: 1531-1538, 1993. 108. Neumann, H. P. H.; Eng, C.; Mulligan, L. M.; Glavac, D.; Zauner, I.; Ponder, B. A. J.; Crossey, P. A.; Maher, E. R.; Brauch, H.: Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II. J.A.M.A. 274: 1149-1151, 1995. 109. Neumann, H. P. H.; Wiestler, O. D.: Clustering of features of von Hippel-Lindau syndrome: evidence for a complex genetic locus. Lancet 337: 1052-1054, 1991. 110. Nibbelink, D. W.; Peters, B. H.; McCormick, W. F.: On the association of pheochromocytoma and cerebellar hemangioblastoma. Neurology 19: 455-460, 1969. 111. Oberstrass, J.; Reifenberger, G.; Reifenberger, J.; Wechsler, W.; Collins, V. P.: Mutation of the von Hippel-Lindau tumour suppressor gene in capillary haemangioblastomas of the central nervous system. J. Path. 179: 151-156, 1996. 112. Ohh, M.; Yauch, R. L.; Lonergan, K. M.; Whaley, J. M.; Stemmer-Rachamimov, A. O.; Louis, D. N.; Gavin, B. J.; Kley, N.; Kaelin, W. G., Jr.; Iliopoulos, O.: The von Hippel-Lindau tumor suppressor protein is required for proper assembly of an extracellular fibronectin matrix. Molec. Cell 1: 959-968, 1998. 113. Olschwang, S.; Richard, S.; Boisson, C.; Giraud, S.; Laurent-Puig, P.; Resche, F.; Thomas, G.: Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma. Hum. Mutat. 12: 424-430, 1998. 114. Otenasek, F. J.; Silver, M. L.: Spinal hemangioma (hemangioblastoma) in Lindau's disease: report of six cases in a single family. J. Neurosurg. 18: 295-300, 1961. 115. Pack, S. D.; Zbar, B.; Pak, E.; Ault, D. O.; Humphrey, J. S.; Pham, T.; Hurley, K.; Weil, R. J.; Park, W.-S.; Kuzmin, I.; Stolle, C.; Glenn, G.; Liotta, L. A.; Lerman, M. I.; Klausner, R. D.; Linehan, W. M.; Zhuang, Z.: Constitutional von Hippel-Lindau (VHL) gene deletions detected in VHL families by fluorescence in situ hybridization. Cancer Res. 59: 5560-5564, 1999. 116. Pause, A.; Lee, S.; Lonergan, K. M.; Klausner, R. D.: The von Hippel-Lindau tumor suppressor gene is required for cell cycle exit upon serum withdrawal. Proc. Nat. Acad. Sci. 95: 993-998, 1998. 117. Price, E. B., Jr.: Papillary cystadenoma of the epididymis: a clinicopathologic analysis of 20 cases. Arch. Path. 91: 456-470, 1971. 118. Probst, A.; Lotz, M.; Heitz, P.: Von Hippel-Lindau's disease, syringomyelia and multiple endocrine tumors: a complex neuroendocrinopathy. Virchows Arch. Path. Anat. Histol. 378: 265-272, 1978. 119. Prowse, A. H.; Webster, A. R.; Richards, F. M.; Richard, S.; Olschwang, S.; Resche, F.; Affara, N. A.; Maher, E. R.: Somatic inactivation of the VHL gene in Von Hippel-Lindau disease tumors. Am. J. Hum. Genet. 60: 765-771, 1997. 120. Rho, Y. M.: Von Hippel-Lindau's disease: a report of 5 cases. Canad. Med. Assoc. J. 101: 135-142, 1969. 121. Richard, S.; Croisille, L.; Yvart, J.; Casadeval, N.; Eschwege, P.; Aghakhani, N.; David, P.; Gaudric, A.; Scigalla, P.; Hermine, O.: Paradoxical secondary polycythemia in von Hippel-Lindau patients treated with anti-vascular endothelial growth factor receptor therapy. Blood 99: 3851-3853, 2002. 122. Richards, F. M.; Crossey, P. A.; Phipps, M. E.; Foster, K.; Latif, F.; Evans, G.; Sampson, J.; Lerman, M. I.; Zbar, B.; Affara, N. A.; Ferguson-Smith, M. A.; Maher, E. R.: Detailed mapping of germline deletions of the von Hippel-Lindau disease tumour suppressor gene. Hum. Molec. Genet. 3: 595-598, 1994. 123. Richards, F. M.; Maher, E. R.; Latif, F.; Phipps, M. E.; Tory, K.; Lush, M.; Crossey, P. A.; Oostra, B.; Gustavson, K. H.; Green, J.; Turner, G.; Yates, J. R. W.; Linehan, W. M.; Affara, N. A.; Lerman, M.; Zbar, B.; Ferguson-Smith, M. A.: Detailed genetic mapping of the von Hippel-Lindau disease tumour suppressor gene. J. Med. Genet. 30: 104-107, 1993. 124. Richards, F. M.; Phipps, M. E.; Latif, F.; Yao, M.; Crossey, P. A.; Foster, K.; Linehan, W. M.; Affara, N. A.; Lerman, M. I.; Zbar, B.; Ferguson-Smith, M. A.; Maher, E. R.: Mapping the von Hippel-Lindau disease tumour suppressor gene: identification of germline deletions by pulsed field gel electrophoresis. Hum. Molec. Genet. 2: 879-882, 1993. 125. Richards, F. M.; Schofield, P. N.; Fleming, S.; Maher, E. R. : Expression of the von Hippel-Lindau disease tumour suppressor gene during human embryogenesis. Hum. Molec. Genet. 5: 639-644, 1996. 126. Rubenstein, J. L.; Yaari, H.: von Hippel-Lindau and the genetics of astrocytoma. J. Nat. Cancer Inst. 86: 142-143, 1994. 127. Sander, S.; Normann, T.; Mathisen, W.: Pheochromocytoma associated with von-Hippel-Lindau's disease in a family. Scand. J. Urol. Nephrol. 4: 259-263, 1970. 128. Schechterman, L.: Lindau's disease: report of an unusual case and two additional cases in a Negro family. Med. Ann. D.C. 30: 64-76, 1961. 129. Schimke, R. N.; Collins, D. L.; Rothberg, P. G.: Functioning carotid paraganglioma in the von Hippel-Lindau syndrome. (Letter) Am. J. Med. Genet. 80: 533-534, 1998. 130. Schoenfeld, A.; Davidowitz, E. J.; Burk, R. D.: A second major native von Hippel-Lindau gene product, initiated from an internal translation start site, functions as a tumor suppressor. Proc. Nat. Acad. Sci. 95: 8817-8822, 1998. 131. Seizinger, B. R.; Farmer, G.; Haines, J.; Anderson, K.; Whaley, J.; Hettlich, C.; Decker, J.; Rouleau, G.; Smith, D.; Drabkin, H.; Filling-Katz, M.; Neumann, H.; Collins, D.; Hsia, E.; Green, J.; Waziri, M.; Gusella, J.; Li, F.: Isolating the gene(s) for von Hippel-Lindau disease and renal cell carcinoma. (Abstract) Am. J. Hum. Genet. 45 (suppl.): A32, 1989. 132. Seizinger, B. R.; Rouleau, G. A.; Ozelius, L. J.; Lane, A. H.; Farmer, G. E.; Lamiell, J. M.; Haines, J.; Yuen, J. W.; Collins, D.; Majoor-Krakauer, D.; et al.: Von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma. Nature 332: 268-269, 1988. 133. Seizinger, B. R.; Smith, D. I.; Filling-Katz, M. R.; Neumann, H.; Green, J. S.; Choyke, P. L.; Anderson, K. M.; Freiman, R. N.; Klauck, S. M.; Whaley, J.; Decker, H.-J. H.; Hsia, Y. E.; Collins, D.; Halperin, J.; Lamiell, J. M.; Oostra, B.; Waziri, M. H.; Gorin, M. B.; Scherer, G.; Drabkin, H. A.; Aronin, N.; Schinzel, A.; Martuza, R. L.; Gusella, J. F.; Haines, J. L.: Genetic flanking markers refine diagnostic criteria and provide insights into the genetics of Von Hippel Lindau disease. Proc. Nat. Acad. Sci. 88: 2864-2868, 1991. 134. Sgambati, M. T.; Stolle, C.; Choyke, P. L.; Walther, M. M.; Zbar, B.; Linehan, W. M.; Glenn, G. M.: Mosaicism in von Hippel-Lindau disease: lessons from kindreds with germline mutations identified in offspring with mosaic parents. Am. J. Hum. Genet. 66: 84-91, 2000. 135. Sharp, W. V.; Platt, R. L.: Familial pheochromocytoma: association with von-Hippel-Lindau's disease. Angiology 22: 141-146, 1971. 136. Shokeir, M. H. K.: Von Hippel-Lindau syndrome: a report on three kindreds. J. Med. Genet. 7: 155-157, 1970. 137. Silver, M. L.: Hereditary vascular tumors of the nervous system. J.A.M.A. 156: 1053-1056, 1954. 138. Stolle, C.; Glenn, G.; Zbar, B.; Humphrey, J. S.; Choyke, P.; Walther, M.; Pack, S.; Hurley, K.; Audrey, C.; Klausner, R.; Linehan, W. M.: Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. Hum. Mutat. 12: 417-423, 1998. 139. Thomas, M.; Burnside, R. M.: Von Hippel-Lindau disease. Am. J. Ophthal. 51: 140-146, 1961. 140. Tisherman, S. E.; Gregg, F. J.; Danowski, T. S.: Familial pheochromocytoma . J.A.M.A. 182: 152-156, 1962. 141. Tisherman, S. E.; Tisherman, B. G.; Tisherman, S. A.; Dunmire, S.; Levey, G. S.; Mulvihill, J. J.: Three-decade investigation of familial pheochromocytoma: an allele of von Hippel-Lindau disease? Arch. Int. Med. 153: 2550-2556, 1993. 142. Tory, K.; Brauch, H.; Linehan, M.; Barba, D.; Oldfield, E.; Filling-Katz, M.; Seizinger, B.; Nakamura, Y.; White, R.; Marshall, F. F.; Lerman, M. I.; Zbar, B.: Specific genetic change in tumors associated with von Hippel-Lindau disease. J. Nat. Cancer Inst. 81: 1097-1101, 1989. 143. Tsuda, H.; Fukushima, S.; Takahashi, M.; Hikosaka, Y.; Hayashi, K.: Familial bilateral papillary cystadenoma of the epididymis: report of three cases in siblings. Cancer 37: 1831-1839, 1976. 144. Tyers, M.; Willems, A. R.: One ring to rule a superfamily of E3 ubiquitin ligases. Science 284: 602-604, 1999. 145. Vance, J. M.; Small, K. W.; Jones, M. A.; Stajich, J. M.; Yamaoka, L. H.; Roses, A. D.; Hung, W.-Y.; Pericak-Vance, M. A.: Confirmation of linkage in von Hippel-Lindau disease. Genomics 6: 565-567, 1990. 146. van der Harst, E.; de Krijger, R. R.; Dinjens, W. N. M.; Weeks, L. E.; Bonjer, H. J.; Bruining, H. A.; Lamberts, S. W. J.; Koper, J. W.: Germline mutations in the vhl gene in patients presenting with phaeochromocytomas. Int. J. Cancer. 77: 337-340, 1998. 147. Versteeg, R.: Aberrant methylation in cancer. (Editorial) Am. J. Hum. Genet. 60: 751-754, 1997. 148. Vogelstein, B.: Personal Communication. Baltimore, Md. 1/6/1995. 149. von Hippel, E.: Ueber eine sehr seltene Erkrankung der Netzhaut. Albrecht von Graefes Arch. Ophthal. 59: 83-106, 1904. 150. Webster, A. R.; Maher, E. R.; Bird, A. C.; Moore, A. T.: Risk of multisystem disease in isolated ocular angioma (haemangioblastoma). J. Med. Genet. 37: 62-63, 2000. 151. Webster, A. R.; Richards, F. M.; MacRonald, F. E.; Moore, A. T.; Maher, E. R.: An analysis of phenotypic variation in the familial cancer syndrome von Hippel-Lindau disease: evidence for modifier effects. Am. J. Hum. Genet. 63: 1025-1035, 1998. 152. Wells, R. A.; Reeders, S. T.; Green, J.; Johnson, G. J.; Robson, K. J. H.: Linkage studies of von Hippel-Lindau syndrome using multiple-locus hypervariable DNA probes. (Abstract) Cytogenet. Cell Genet. 46: 714, 1987. 153. Wesolowski, D. P.; Ellwood, R. A.; Schwab, R. E.; Farah, J.: Hippel-Lindau syndrome in identical twins. Brit. J. Radiol. 54: 982-986, 1981. 154. Wiesener, M. S.; Seyfarth, M.; Warnecke, C.; Jurgensen, J. S.; Rosenberger, C.; Morgan, N. V.; Maher, E. R.; Frei, U.; Eckardt, K.-U. : Paraneoplastic erythrocytosis associated with an inactivating point mutation of the von Hippel-Lindau gene in a renal cell carcinoma. Blood 99: 3562-3565, 2002. 155. Wise, K. S.; Gibson, J. A.: Von Hippel-Lindau's disease and phaeochromocytoma. Brit. Med. J. 1: 441, 1971. 156. Wyburn-Mason, R.: Arteriovenous aneurysm of mid-brain and retina, facial naevi and mental changes. Brain 66: 163-203, 1943. 157. Zatyka, M.; da Silva, N. F.; Clifford, S. C.; Morris, M. R.; Wiesener, M. S.; Eckardt, K.-U.; Houlston, R. S.; Richards, F. M.; Latif, F.; Maher, E. R.: Identification of cyclin D1 and other novel targets for the von Hippel-Lindau tumor suppressor gene by expression array analysis and investigation of cyclin D1 genotype as a modifier in von Hippel-Lindau disease. Cancer Res. 62: 3803-3811, 2002. 158. Zbar, B.; Kishida, T.; Chen, F.; Schmidt, L.; Maher, E. R.; Richards, F. M.; Crossey, P. A.; Webster, A. R.; Affara, N. A.; Ferguson-Smith, M. A.; Brauch, H.; Glavac, D.; and 14 others: Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. Hum. Mutat. 8: 348-357, 1996. 159. Zhuang, Z.; Emmert-Buck, M. R.; Roth, M. J.; Gnarra, J.; Linehan, W. M.; Liotta, L. A.; Lubensky, I. A.: Von Hippel-Lindau disease gene deletion detected in microdissected sporadic human colon carcinoma specimens. Hum. Path. 27: 152-156, 1996.
[0033939]24527.Devlin, R. H.; Deeb, S.; Brunzell, J.; Hayden, M. R.: Partial gene duplication involving exon-Alu interchange results in lipoprotein lipase deficiency. Am. J. Hum. Genet. 46: 112-119, 1990.
[0033940]24528.Dichek, H. L.; Fojo, S. S.; Beg, O. U.; Skarlatos, S. I.; Brunzell, J. D.; Cutler, G. B., Jr.; Brewer, H. B., Jr.: Identification of 2 separate allelic mutations in the lipoprotein lipase gene of a patient with the familial hyperchylomicronemia syndrome. J. Biol. Chem. 266: 473-477, 1991.
[0033941]24529.Eckel, R. H.: Lipoprotein lipase: a multifunctional enzyme relevant to common metabolic diseases. New Eng. J. Med. 320: 1060-1068, 1989.
[0033942]24530.Emi, M.; Hata, A.; Robertson, M.; Iverius, P.-H.; Hegele, R.; Lalouel, J.-M.: Lipoprotein lipase deficiency resulting from a nonsense mutation in exon 3 of the lipoprotein lipase gene. Am. J. Hum. Genet. 47: 107-111, 1990.
[0033943]24531.Emi, M.; Wilson, D. E.; Iverius, P.-H.; Wu, L.; Hata, A.; Hegele, R.; Williams, R. R.; Lalouel, J.-M.: Missense mutation (gly-to-glu188) of human lipoprotein lipase imparting functional deficiency. J. Biol. Chem. 265: 5910-5916, 1990.
[0033944]24532.Faustinella, F.; Chang, A.; Van Biervliet, J. P.; Rosseneu, M.; Vinaimont, N.; Smith, L. C.; Chen, S.-H.; Chan, L.: Catalytic triad residue mutation (asp156-to-gly) causing familial lipoprotein lipase deficiency: co-inheritance with a nonsense mutation (ser447-to-ter) in a Turkish family. J. Biol. Chem. 266: 14418-14424, 1991.
[0033945]24533.Feoli-Fonseca, J. C.; Levy, E.; Godard, M.; Lambert, M.: Familial lipoprotein lipase deficiency in infancy: clinical, biochemical, and molecular study. J. Pediat. 133: 417-423, 1998.
[0033946]24534.Fisher, R. M.; Humphries, S. E.; Talmud, P. J.: Common variation in the lipoprotein lipase gene: effects on plasma lipids and risk of atherosclerosis. Atherosclerosis 135: 145-159, 1997.
[0033947]24535.Franklin, S. M.: Splenomegaly with lipaemia. Proc. Roy. Soc. Med. 30: 711, 1937.
[0033948]24536.Funke, H.; Klug, J.; Assmann, G.: Hind III RFLP in the lipoprotein lipase gene, (LPL). Nucleic Acids Res. 15: 9102, 1987.
[0033949]24537.Funke, H.; Reckwerth, A.; Stapenhorst, D.; Schulze Beiering, M.; Jansen, M.; Assmann, G.: Bst NI (Eco RII) RFLP in the lipoprotein lipase gene (LPL). Nucleic Acids Res. 16: 2741, 1988.
[0033950]24538.Gagne, C.; Brun, L. D.; Julien, P.; Moorjani, S.; Lupien, P. J. : Primary lipoprotein lipase activity deficiency: clinical investigation of a French Canadian population. Canad. Med. Assoc. J. 140: 405-411, 1989.
[0033951]24539.Gilbert, B.; Rouis, M.; Griglio, S.; de Lumley, L.; Laplaud, P.-M. : Lipoprotein lipase (LPL) deficiency: a new patient homozygote for the preponderant mutation gly88-to-glu in the human LPL gene and review of reported mutations: 75% are clustered in exons 5 and 6. Ann. Genet. 44: 25-32, 2001.
[0033952]24540.Ginzinger, D. G.; Lewis, M. E. S.; Ma, Y.; Jones, B. R.; Liu, G.; Jones, S. D.; Hayden, M. R.: A mutation in the lipoprotein lipase gene is the molecular basis of chylomicronemia in a colony of domestic cats. J. Clin. Invest. 97: 1257-1266, 1996.
[0033953]24541.Gotoda, T.; Yamada, N.; Kawamura, M.; Kozaki, K.; Mori, N.; Ishibashi, S.; Shimano, H.; Takaku, F.; Yazaki, Y.; Furuichi, Y.; Murase, T. : Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency. J. Clin. Invest. 88: 1856-1864, 1991.
[0033954]24542.Gotoda, T.; Yamada, N.; Murase, T.; Miyake, S.; Murakami, R.; Kawamura, M.; Kozaki, K.; Mori, N.; Shimano, H.; Shimada, M.; Yazaki, Y.: A newly identified null allelic mutation in the human lipoprotein lipase (LPL) gene of a compound heterozygote with familial LPL deficiency. Biochim. Biophys. Acta 1138: 353-356, 1992.
[0033955]24543.Hata, A.; Emi, M.; Luc, G.; Basdevant, A.; Gambert, P.; Iverius, P.-H.; Lalouel, J.-M.: Compound heterozygote for lipoprotein lipase deficiency: ser-to-thr(244) and transition in 3-prime splice site of intron 2 (AG-to-AA) in the lipoprotein lipase gene. Am. J. Hum. Genet. 47: 721-726, 1990.
[0033956]24544.Hata, A.; Ridinger, D. N.; Sutherland, S. D.; Emi, M.; Kwong, L. K.; Shuhua, J.; Lubbers, A.; Guy-Grand, B.; Basdevant, A.; Iverius, P. H.; Wilson, D. E.; Lalouel, J.-M.: Missense mutations in exon 5 of the human lipoprotein lipase gene: inactivation correlates with loss of dimerization. J. Biol. Chem. 267: 20132-20139, 1992.
[0033957]24545.Haubenwallner, S.; Horl, G.; Shachter, N. S.; Presta, E.; Fried, S. K.; Hofler, G.; Kostner, G. M.; Breslow, J. L.; Zechner, R.: A novel missense mutation in the gene for lipoprotein lipase resulting in a highly conservative amino acid substitution (asp180-to-glu) causes familial chylomicronemia (type I hyperlipoproteinemia). Genomics 18: 392-396, 1993.
[0033958]24546.Havel, R. J.; Gordon, R. S.: Idiopathic hyperlipemia: metabolic studies in an affected family. J. Clin. Invest. 39: 1777-1790, 1960.
[0033959]24547.Heaney, A. P.; Sharer, N.; Rameh, B.; Braganza, J. M.; Durrington, P. N.: Prevention of recurrent pancreatitis in familial lipoprotein lipase deficiency with high-dose antioxidant therapy. J. Clin. Endocr. Metab. 84: 1203-1205, 1999.
[0033960]24548.Heinzmann, C.; Ladias, J.; Antonarakis, S.; Kirchgessner, T.; Schotz, M.; Lusis, A. J.: RFLP for the human lipoprotein lipase (LPL) gene: HindIII. Nucleic Acids Res. 15: 6763, 1987.
[0033961]24549.Heizmann, C.; Kirchgessner, T.; Kwiterovich, P. O.; Ladias, J. A.; Derby, C.; Antonarakis, S. E.; Lusis, A. J.: DNA polymorphism haplotypes of the human lipoprotein lipase gene: possible association with high density lipoprotein levels. Hum. Genet. 86: 578-584, 1991.
[0033962]24550.Henderson, H.; Ma, Y.; Kastelein, J.; Roederer, G.; Julien, P.; Brunzell, J.; Hayden, M. R.: Identification of the molecular defects underlying chylomicronemia in the majority of 75 separate probands with LPL deficiency.(Abstract) Clin. Res. 39: 336A, 1991.
[0033963]24551.Henderson, H. E.; Bijvoet, S. M.; Mannens, M. A. M. M.; Bruin, T.; Erkelens, D. W.; Hayden, M. R.; Kastelein, J. J. P.: Ile225-to-thr loop mutation in the lipoprotein lipase (LPL) gene is a de novo event. Am. J. Med. Genet. 78: 313-316, 1998.
[0033964]24552.Sjalander, A.; Birgander, R.; Rannug, A.; Alexandrie, A.-K.; Tornling, G.; Beckman, G.: Association between the p21 codon 31A1 (arg) allele and lung cancer. Hum. Hered. 46: 221-225, 1996.
[0033965]24553.Fryns, J. P.; van den Berghe, K.; van Assche, A.; van den Berghe, H.: Prenatal diagnosis of campomelic dwarfism. Clin. Genet. 19: 199-201, 1981.
[0033966]24554.Mellows, H. J.; Pryse-Davies, J.; Bennett, M. J.; Carter, C. O. : The camptomelic syndrome in two female siblings. Clin. Genet. 18: 137-141, 1980.
[0033967]24555.Bjursell, C.; Wahlstrom, J.; Berg, K.; Stibler, H.; Kristiansson, B.; Matthijs, G.; Martinsson, T.: Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families. Europ. J. Hum. Genet. 6: 603-611, 1998.
[0033968]24556.Satoyoshi, E.; Kowa, H.: A myopathy due to glycolytic abnormality. Arch. Neurol. 17: 248-256, 1967.
[0033969]24557.Servidei, S.; Bonilla, E.; Diedrich, R. G.; Kornfeld, M.; Oates, J. D.; Davidson, M.; Vora, S.; DiMauro, S.: Fatal infantile form of muscle phosphofructokinase deficiency. Neurology 36: 1465-1470, 1986.
[0033970]24558.Tani, K.; Fujii, H.; Takegawa, S.; Miwa, S.; Koyama, W.; Kanayama, M.; Imanaka, A.; Imanaka, F.; Kuramoto, A.: Two cases of phosphofructokinase deficiency associated with congenital hemolytic anemia found in Japan. Am. J. Hemat. 14: 165-174, 1983.
[0033971]24559.Tarui, S.; Okuno, G.; Ikura, Y.; Tanaka, T.; Suda, M.; Nishikawa, M.: Phosphofructokinase deficiency in skeletal muscle: a new type of glycogenosis. Biochem. Biophys. Res. Commun. 19: 517-523, 1965.
[0033972]24560.Tsujino, S.; Servidei, S.; Tonin, P.; Shanske, S.; Azan, G.; DiMauro, S.: Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency. Am. J. Hum. Genet. 54: 812-819, 1994.
[0033973]24561.Matsumoto, K.; Yoshitomi, H.; Rossant, J.; Zaret, K. S.: Liver organogenesis promoted by endothelial cells prior to vascular function. Science 294: 559-563, 2001.
[0033974]24562.Matthews, W.; Jordan, C. T.; Gavin, M.; Jenkins, N. A.; Copeland, N. G.; Lemischka, I. R.: A receptor tyrosine kinase cDNA isolated from a population of enriched primitive hematopoietic cells and exhibiting close genetic linkage to c-kit. Proc. Nat. Acad. Sci. 88: 9026-9030, 1991.
[0033975]24563.Millauer, B.; Shawver, L. K.; Plate, K. H.; Risau, W.; Ullrich, A.: Glioblastoma growth inhibited in vivo by a dominant-negative Flk-1 mutant. Nature 367: 576-579, 1994.
[0033976]24564.Millauer, B.; Wizigmann-Voos, S.; Schnurch, H.; Martinez, R.; Moller, N. P. H.; Risau, W.; Ullrich, A.: High affinity VEGF binding and developmental expression suggest Flk-1 as a major regulator of vasculogenesis and angiogenesis. Cell 72: 835-846, 1993.
[0033977]24565.Plate, K. H.; Breier, G.; Millauer, B.; Ullrich, A.; Risau, W. : Up-regulation of vascular endothelial growth factor and its cognate receptors in a rat glioma model of tumor angiogenesis. Cancer Res. 53: 5822-5827, 1993.
[0033978]24566.Quinn, T. P.; Peters, K. G.; De Vries, C.; Ferrara, N.; Williams, L. T.: Fetal liver kinase 1 is a receptor for vascular endothelial growth factor and is selectively expressed in vascular endothelium. Proc. Nat. Acad. Sci. 90: 7533-7537, 1993.
[0033979]24567.Sait, S. N. J.; Dougher-Vermazen, M.; Shows, T. B.; Terman, B. I.: The kinase insert domain receptor gene (KDR) has been relocated to chromosome 4q11-q12. Cytogenet. Cell Genet. 70: 145-146, 1995.
[0033980]24568.Shalaby, F.; Rossant, J.; Yamaguchi, T. P.; Gertsenstein, M.; Wu, X.-F.; Breitman, M. L.; Schuh, A. C.: Failure of blood-island formation and vasculogenesis in Flk-1-deficient mice. Nature 376: 62-65, 1995.
[0033981]24569.Shay-Salit, A.; Shushy, M.; Wolfovitz, E.; Yahav, H.; Breviario, F.; Dejana, E.; Resnick, N.: VEGF receptor 2 and the adherens junction as a mechanical transducer in vascular endothelial cells. Proc. Nat. Acad. Sci. 99: 9462-9467, 2002.
[0033982]24570.Spritz, R. A.; Strunk, K. M.; Lee, S.-T.; Lu-Kuo, J. M.; Ward, D. C.; Le Paslier, D.; Altherr, M. R.; Dorman, T. E.; Moir, D. T. : A YAC contig spanning a cluster of human type III receptor protein tyrosine kinase genes (PDGFRA-KIT-KDR) in chromosome segment 4q12. Genomics 22: 431-436, 1994.
[0033983]24571.Terman, B.; Carrion, M.; Eddy, R. L.; Shows, T. B.: Tyrosine kinase growth factor receptor (KDR) localized to chromosome 4 (Abstract) Cytogenet. Cell Genet. 58: 1890 only, 1991.
[0033984]24572.Terman, B. I.; Carrion, M. E.; Kovacs, E.; Rasmussen, B. A.; Eddy, R. L.; Shows, T. B.: Identification of a new endothelial cell growth factor receptor tyrosine kinase. Oncogene 6: 1677-1683, 1991.
[0033985]24573.Terman, B. I.; Jani-Sait, S.; Carrion, M. E.; Shows, T. B.: The KDR gene maps to human chromosome 4q31.2-q32, a locus which is distinct from locations for other type III growth factor receptor tyrosine kinases. Cytogenet. Cell Genet. 60: 214-215, 1992.
[0033986]24574.Yamashita, J.; Itoh, H.; Hirashima, M.; Ogawa, M.; Nishikawa, S.; Yurugi, T.; Naito, M.; Nakao, K.; Nishikawa, S.-I.: Flk1-positive cells derived from embryonic stem cells serve as vascular progenitors. Nature 408: 92-96, 2000.
[0033987]24575.Ziegler, B. L.; Valtieri, M.; Porada, G. A.; De Maria, R.; Muller, R.; Masella, B.; Gabbianelli, M.; Casella, I.; Pelosi, E.; Bock, T.; Zanjani, E. D.; Peschle, C.: KDR receptor: a key marker defining hematopoietic stem cells. Science 285: 1553-1558, 1999.
[0033988]24576.Ala-Mello, S.; Sankila, E.-M.; Koskimies, O.; de la Chapelle, A.; Kaariainen, H.: Molecular studies in Finnish patients with familial juvenile nephronophthisis exclude a founder effect and support a common mutation causing mechanism. J. Med. Genet. 35: 279-283, 1998.
[0033989]24577.Alexander, F.; Campbell, S.: Familial uremic medullary cystic disease. Pediatrics 45: 1024-1028, 1970.
[0033990]24578.Antignac, C.; Arduy, C. H.; Beckmann, J. S.; Benessy, F.; Gros, F.; Medhioub, M.; Hildebrandt, F.; Dufier, J.-L.; Kleinknecht, C.; Broyer, M.; Weissenbach, J.; Habib, R.; Cohen, D.: A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p. Nature Genet. 3: 342-345, 1993.
[0033991]24579.Benzing, T.; Gerke, P.; Hopker, K.; Hildebrandt, F.; Kim, E.; Walz, G.: Nephrocystin interacts with Pyk2, p130(Cas), and tensin and triggers phosphorylation of Pyk2. Proc. Nat. Acad. Sci. 98: 9784-9789, 2001.
[0033992]24580.Betz, R.; Rensing, C.; Otto, E.; Mincheva, A.; Zehnder, D.; Lichter, P.; Hildebrandt, F.: Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis. J. Pediat. 136: 828-831, 2000.
[0033993]24581.Broberger, O.; Winberg, J.; Zetterstrom, R.: Juvenile nephronophthisis. I. A genetically determined nephropathy with hypotonic polyuria and azotaemia. Acta Paediat. 49: 470-479, 1960.
[0033994]24582.Caridi, G.; Murer, L.; Bellantuono, R.; Sorino, P.; Caringella, D. A.; Gusmano, R.; Ghiggeri, G. M.: Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus. Am. J. Kidney Dis. 32: 1059-1062, 1998.
[0033995]24583.Cohen, A. H.; Hoyer, J. R.: Nephronophthisis: a primary tubular basement membrane defect. Lab. Invest. 55: 564-572, 1986.
[0033996]24584.Collan, Y.; Sipponen, P.; Haapanen, E.; Lindahl, J.; Jokinen, E. J.; Hjelt, L.: Hereditary nephronophthisis with a life span of 3 decades--light and electron microscopical, immunohistochemical, clinical and family studies. Wilhelm Roux. Arch. Develop. Biol. 376: 195-208, 1977.
[0033997]24585.Donaldson, J. C.; Dempsey, P. J.; Reddy, S.; Bouton, A. H.; Coffey, R. J.; Hanks, S. K.: Crk-associated substrate p130(Cas) interacts with nephrocystin and both proteins localize to cell-cell contacts of polarized epithelial cells. Exp. Cell Res. 256: 168-175, 2000.
[0033998]24586.Fanconi, G.; Hanhart, E.; Von Albertini, A.; Uehlinger, E.; Dolivo, G.; Prader, A.: Die familiaere juvenile Nephronophthise. (Die idiopathische Parenchymatose). Helv. Paediat. Acta 6: 1-49, 1951.
[0033999]24587.Gibson, A. A. M.; Arneil, G. C.: Nephronophthisis: report of 8 cases in Britain. Arch. Dis. Child. 47: 84-89, 1972.
[0034000]24588.Giselson, N.; Heinegard, D.; Holmberg, C. G.; Lindberg, L. G.; Lindstedt, E.; Lindstedt, G.; Schersten, B.: Renal medullary cystic disease or familial juvenile nephronophthisis: a renal tubular disease. Am. J. Med. 48: 174-184, 1970.
[0034001]24589.Hackzell, G.; Lundmark, C.: Familial juvenile nephronophthisis. Acta Paediat. 47: 428-440, 1958.
[0034002]24590.Herdman, R. C.; Good, R. A.; Vernier, R. L.: Medullary cystic disease in two siblings. Am. J. Med. 43: 335-344, 1967.
[0034003]24591.Hildebrandt, F.: Personal Communication. Freibrug, Germany 10/1/1997.
[0034004]24592.Hildebrandt, F.; Otto, E.; Rensing, C.; Nothwang, H. G.; Vollmer, M.; Adolphs, J.; Hanusch, H.; Brandis, M.: A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1. Nature Genet. 17: 149-153, 1997.
[0034005]24593.Hildebrandt, F.; Singh-Sawhney, I.; Schnieders, B.; Papenfuss, T.; Brandis, M.; Members of the APN Study Group: Refined genetic mapping of a gene for familial juvenile nephronophthisis (NPH1) and physical mapping of linked markers. Genomics 25: 360-364, 1995.
[0034006]24594.Khoury, Z.; Brezis, M.; Mogle, P.: Familial medullary sponge kidney in association with congenital absence of teeth (anodontia). Nephron 48: 231-233, 1988.
[0034007]24595.Cho, K. R.; Oliner, J. D.; Simons, J. W.; Hedrick, L.; Fearon, E. R.; Preisinger, A. C.; Hedge, P.; Silverman, G. A.; Vogelstein, B.: The DCC gene: structural analysis and mutations in colorectal carcinomas. Genomics 19: 525-531, 1994.
[0034008]24596.Fazeli, A.; Dickinson, S. L.; Hermiston, M. L.; Tighe, R. V.; Steen, R. G.; Small, C. G.; Stoeckli, E. T.; Keino-Masu, K.; Masu, M.; Rayburn, H.; Simons, J.; Bronson, R. T.; Gordon, J. I.; Tessier-Lavigne, M.; Weinberg, R. A.: Phenotype of mice lacking functional Deleted in colorectal cancer (Dcc) gene. Nature 386: 796-804, 1997.
[0034009]24597.Fearon, E. R.; Cho, K. R.; Nigro, J. M.; Kern, S. E.; Simons, J. W.; Ruppert, J. M.; Hamilton, S. R.; Preisinger, A. C.; Thomas, G.; Kinzler, K. W.; Vogelstein, B.: Identification of a chromosome 18q gene that is altered in colorectal cancers. Science 247: 49-56, 1990.
[0034010]24598.Gotley, D. C.; Reeder, J. A.; Fawcett, J.; Walsh, M. D.; Bates, P.; Simmons, D. L.; Antalis, T. M.: The deleted in colon cancer (DCC) gene is consistently expressed in colorectal cancers and metastases. Oncogene 13: 787-795, 1996.
[0034011]24599.Hohne, M. W.; Halatsch, M.-E.; Kahl, G. F.; Weinel, R. J.: Frequent loss of expression of the potential tumor suppressor gene DCC in ductal pancreatic adenocarcinoma. Cancer Res. 52: 2616-2619, 1992.
[0034012]24600.Jen, J.; Kim, H.; Piantadosi, S.; Liu, Z.-F.; Levitt, R. C.; Sistonen, P.; Kinzler, K. W.; Vogelstein, B.; Hamilton, S. R.: Allelic loss of chromosome 18q and prognosis in colorectal cancer. New Eng. J. Med. 331: 213-221, 1994.
[0034013]24601.Keino-Masu, K.; Masu, M.; Hinck, L.; Leonardo, E. D.; Chan, S. S.-Y.; Culotti, J. G.; Tessier-Lavigne, M.: Deleted in colorectal cancer (DCC) encodes a netrin receptor. Cell 87: 175-185, 1996.
[0034014]24602.Keynes, R.; Cook, G. M. W.: Axon guidance molecules. Cell 83: 161-169, 1995.
[0034015]24603.Kolodziej, P. A.; Timpe, L. C.; Mitchell, K. J.; Fried, S. R.; Goodman, C. S.; Jan, L. Y.; Jan, Y. N.: Frazzled encodes a Drosophila member of the DCC immunoglobulin subfamily and is required for CNS and motor axon guidance. Cell 87: 197-204, 1996.
[0034016]24604.Maesawa, C.; Tamura, G.; Ogasawara, S.; Suzuki, Y.; Sakata, K.; Sugimura, J.; Nishizuka, S.; Sato, N.; Ishida, K.; Saito, K.; Satodate, R.: Loss of heterozygosity at the DCC gene locus is not crucial for the acquisition of metastatic potential in oesophageal squamous cell carcinoma. Europ. J. Cancer. 32A: 896-898, 1996.
[0034017]24605.Mehlen, P.; Rabizadeh, S.; Snipas, S. J.; Assa-Munt, N.; Salvesen, G. S.; Bredesen, D. E.: The DCC gene produce induces apoptosis by a mechanism requiring receptor proteolysis. Nature 395: 801-804, 1998.
[0034018]24606.Miyake, S.; Nagai, K.; Yoshino, K.; Oto, M.; Endo, M.; Yuasa, Y.: Point mutations and allelic deletion of tumor suppressor gene DCC in human esophageal squamous cell carcinomas and their relation to metastasis. Cancer Res. 54: 3007-3010, 1994.
[0034019]24607.Nigro, J. M.; Cho, K. R.; Fearon, E. R.; Kern, S. E.; Ruppert, J. M.; Oliner, J. D.; Kinzler, K. W.; Vogelstein, B.: Scrambled exons. Cell 64: 607-613, 1991.
[0034020]24608.Shibata, D.; Reale, M. A.; Lavin, P.; Silverman, M.; Fearon, E. R.; Steele, G., Jr.; Jessup, J. M.; Loda, M.; Summerhayes, I. C.: The DCC protein and prognosis in colorectal cancer. New Eng. J. Med. 335: 1727-1732, 1996.
[0034021]24609.Stein, E.; Tessier-Lavigne, M.: Hierarchical organization of guidance receptors: silencing of netrin attraction by Slit through a Robo/DCC receptor complex. Science 291: 1928-1938, 2001.
[0034022]24610.Tanaka, K.; Oshimura, M.; Kikuchi, R.; Seki, M.; Hayashi, T.; Miyaki, M.: Suppression of tumorigenicity in human colon carcinoma cells by introduction of normal chromosome 5 or 18. Nature 349: 340-342, 1991.
[0034023]24611.Uchino, S.; Tsuda, H.; Noguchi, M.; Yokota, J.; Terada, M.; Saito, T.; Kobayashi, M.; Sugimura, T.; Hirohashi, S.: Frequent loss of heterozygosity at the DCC locus in gastric cancer. Cancer Res. 52: 3099-3102, 1992.
[0034024]24612.Vogelstein, B.: Personal Communication. Baltimore, Md. 11/30/1995.
[0034025]24613.Zetter, B. R.: Adhesion molecules in tumor metastasis. Semin. Cancer Biol. 4: 219-229, 1993.
[0034026]24614.Devor, E. J.; Grandy, D. K.; Civelli, O.; Litt, M.; Burgess, A. K.; Isenberg, K. E.; van de Wetering, B. J. M.; Oostra, B.: Genetic linkage is excluded for the D2-dopamine receptor lambda-HD2G1 and flanking loci on chromosome 11q22-q23 in Tourette syndrome. Hum. Hered. 40: 105-108, 1990.
[0034027]24615.Voutsinas, S.; Wynne-Davies, R.: The infrequency of malignant disease in diaphyseal aclasis and neurofibromatosis. J. Med. Genet. 20: 345-349, 1983.
[0034028]24616.Freemantle, S. J.; Taylor, S. M.; Krystal, G.; Moran, R. G.: Upstream organization of and multiple transcripts from the human folylpoly-gamma-glutamate synthetase gene. J. Biol. Chem. 270: 9579-9584, 1995.
[0034029]24617.Garrow, T. A.; Admon, A.; Shane, B.: Expression cloning of a human cDNA encoding folylpoly(gamma-glutamate) synthetase and determination of its primary structure. Proc. Nat. Acad. Sci. 89: 9151-9155, 1992.
[0034030]24618.Jones, C.; Kao, F.-T.: Regional mapping of the folylpolyglutamate synthetase gene (FPGS) to 9cen-q34. (Abstract) Cytogenet. Cell Genet. 37: 499-500, 1984.
[0034031]24619.Jones, C.; Kao, F.-T.; Taylor, R. T.: Chromosomal assignment of the gene for folylpolyglutamate synthetase to human chromosome 9. Cytogenet. Cell Genet. 28: 181-194, 1980.
[0034032]24620.Jones, C.; Kao, F. T.: Assignment of the human gene complementing the auxotrophic marker GAT-minus to chromosome 9. (Abstract) Cytogenet. Cell Genet. 25: 168, 1979.
[0034033]24621.Kao, F. T.; Puck, T. T.: Genetics of somatic mammalian cells. VII. Induction and isolation of nutritional mutants in Chinese hamster cells. Proc. Nat. Acad. Sci. 60: 1275-1281, 1968.
[0034034]24622.Sussman, D. J.; Milman, G.; Shane, B.: Characterization of human folylpolyglutamate synthetase expressed in Chinese hamster ovary cells. Somat. Cell Molec. Genet. 12: 531-540, 1986.
[0034035]24623.Taylor, R. T.; Hanna, M. L.: Folate-dependent enzymes in cultured Chinese hamster cells: folylpolyglutamate synthetase and its absence in mutants auxotrophic for glycine, adenosine and thymidine. Arch. Biochem. Biophys. 181: 331-344, 1977.
[0034036]24624.Taylor, S. M.; Freemantle, S. J.; Moran, R. G.: Structural organization of the human folylpoly-gamma-glutamate synthetase gene: evidence for a single genomic locus. Cancer Res. 55: 6030-6034, 1995.
[0034037]24625.Buters, J. T. M.; Tang, B.-K.; Pineau, T.; Gelboin, H. V.; Kimura, S.; Gonzalez, F. J.: Role of CYP1A2 in caffeine pharmacokinetics and metabolism: studies using mice deficient in CYP1A2. Pharmacogenetics 6: 291-296, 1996.
[0034038]24626.Butler, M. A.; Iwasaki, M.; Guengerich, F. P.; Kadlubar, F. F. : Human cytochrome P-450(PA) (P-450IA2), the phenacetin O-deethylase, is primarily responsible for the hepatic 3-demethylation of caffeine and N-oxidation of carcinogenic arylamines. Proc. Nat. Acad. Sci. 86: 7696-7700, 1989.
[0034039]24627.Christiansen, L.; Bygum, A.; Jensen, A.; Thomsen, K.; Brandrup, F.; Horder, M.; Petersen, N. E.: Association between CYP1A2 polymorphism and susceptibility to porphyria cutanea tarda. Hum. Genet. 107: 612-614, 2000.
[0034040]24628.Devonshire, H. W.; Kong, I.; Cooper, M.; Sloan, T. P.; Idle, J. R.; Smith, R. L.: The contribution of genetically determined oxidation status to inter-individual variation in phenacetin disposition. Brit. J. Clin. Pharm. 16: 157-166, 1983.
[0034041]24629.Ikeya, K.; Jaiswal, A. K.; Owens, R. A.; Jones, J. E.; Nebert, D. W.; Kimura, S.: Human CYP1A2: sequence, gene structure, comparison with the mouse and rat orthologous gene, and differences in liver 1A2 mRNA expression. Molec. Endocr. 3: 1399-1408, 1989.
[0034042]24630.Jaiswal, A. K.; Nebert, D. W.; McBride, O. W.; Gonzalez, F. J. : Human P(3)450: cDNA and complete protein sequence, repetitive Alu sequences in the 3-prime nontranslated region, and localization of gene to chromosome 15. J. Exp. Path. 3: 1-17, 1987.
[0034043]24631.Liang, H.-C. L.; Li, H.; McKinnon, R. A.; Duffy, J. J.; Potter, S. S.; Puga, A.; Nebert, D. W.: Cyp1a2(-/-) null mutant mice develop normally but show deficient drug metabolism. Proc. Nat. Acad. Sci. 93: 1671-1676, 1996.
[0034044]24632.Nebert, D. W.: Personal Communication. Bethesda, Md. 2/3/1988.
[0034045]24633.Sesardic, D.; Boobis, A. R.; Edwards, R. J.; Davies, D. S.: A form of cytochrome P450 in man, orthologous to form d in the rat, catalyses the O-deethylation of phenacetin and is inducible by cigarette smoking. Brit. J. Clin. Pharm. 26: 363-372, 1988.
[0034046]24634.Tantcheva-Poor, I.; Zaigler, M.; Rietbrock, S.; Fuhr, U.: Estimation of cytochrome P-450 CYP1A2 activity in 863 healthy Caucasians using a saliva-based caffeine test. Pharmacogenetics 9: 131-144, 1999.
[0034047]24635.Wooding, S. P.; Watkins, W. S.; Bamshad, M. J.; Dunn, D. M.; Weiss, R. B.; Jorde, L. B.: DNA sequence variation in a 3.7-kb noncoding sequence 5-prime of the CYP1A2 gene: implications for human population history and natural selection. Am. J. Hum. Genet. 71: 528-542, 2002.
[0034048]24636.Bale, A. E.; Mitchell, A. L.; Gonzalez, F. J.; McBride, O. W.: Localization of CYP2F1 by multipoint linkage analysis and pulsed-field gel electrophoresis. Genomics 10: 284-286, 1991.
[0034049]24637.Mitchell, A. L.; Bale, A. E.; Gonzalez, F.; McBride, O. W.: Mapping of cytochrome p450 IIA, IIB, and IIF subfamilies on chromosome 19 by linkage analysis. (Abstract) Cytogenet. Cell Genet. 51: 1045, 1989.
[0034050]24638.Nhamburo, P. T.; Kimura, S.; McBride, O. W.; Kozak, C. A.; Gelboin, H. V.; Gonzalez, F. J.: The human CYP2F gene subfamily: identification of a cDNA encoding a new cytochrome P450, cDNA-directed expression, and chromosome mapping. Biochemistry 29: 5491-5499, 1990.
[0034051]24639.Thum, T.; Borlak, J.: Gene expression in distinct regions of the heart. Lancet 355: 979-983, 2000.
[0034052]24640.Wells, D. E.; Hill, A.; Lin, X.; Ahn, J.; Brown, N.; Wagner, M. J.: Identification of novel mutations in the human EXT1 tumor suppressor gene. Hum. Genet. 99: 612-615, 1997.
[0034053]24641.Wicklund, C. L.; Pauli, R. M.; Johnston, D.; Hecht, J. T.: Natural history study of hereditary multiple exostoses. Am. J. Med. Genet. 55: 43-46, 1995.
[0034054]24642.Wuyts, W.; Van Hul, W.: Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes. Hum. Mutat. 15: 220-227, 2000.
[0034055]24643.Wuyts, W.; Van Hul, W.; De Boulle, K.; Hendrickx, J.; Bakker, E.; Vanhoenacker, F.; Mollica, F.; Ludecke, H.-J.; Sayli, B. S.; Pazzaglia, U. E.; Mortier, G.; Hamel, B.; Conrad, E. U.; Matsushita, M.; Raskind, W. H.; Willems, P. J.: Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. Am. J. Hum. Genet. 62: 346-354, 1998.
[0034056]24644.Xu, L.; Xia, J.; Jiang, H.; Zhou, J.; Li, H.; Wang, D.; Pan, Q.; Long, Z.; Fan, C.; Deng, H.-X.: Mutation analysis of hereditary multiple exostoses in the Chinese. Hum. Genet. 105: 45-50, 1999.
[0034057]24645.Yoshiura, K.; Inazawa, J.; Koyama, K.; Nakamura, Y.; Niikawa, N.: Mapping of the 8q23 translocation breakpoint of t(8;13) observed in a patient with multiple exostoses. Genes Chromosomes Cancer 9: 57-61, 1994.
[0034058]24646.Bellaiche, Y.; The, I.; Perrimon, N.: Tout-velu is a Drosophila homologue of the putative tumour suppressor EXT-1 and is needed for Hh diffusion. Nature 394: 85-88, 1998.
[0034059]24647.Clines, G. A.; Ashley, J. A.; Shah, S.; Lovett, M.: The structure of the human multiple exostoses 2 gene and characterization of homologs in mouse and Caenorhabditis elegans. Genome Res. 7: 359-367, 1997.
[0034060]24648.Francannet, C.; Cohen-Tanugi, A.; Le Merrer, M.; Munnich, A.; Bonaventure, J.; Legeai-Mallet, L.: Genotype-phenotype correlation in hereditary multiple exostoses. J. Med. Genet. 38: 430-434, 2001.
[0034061]24649.Ligon, A. H.; Potocki, L.; Shaffer, L. G.; Stickens, D.; Evans, G. A.: Gene for multiple exostoses (EXT2) maps to 11(p11.2p12) and is deleted in patients with a contiguous gene syndrome. (Letter) Am. J. Med. Genet. 75: 538-540, 1998.
[0034062]24650.Lind, T.; Tufaro, F.; McCormick, C.; Lindahl, U.; Lidholt, K. : The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate. J. Biol. Chem. 273: 26265-26268, 1998.
[0034063]24651.McGaughran, J. M.; Ward, H. B.; Evans, D. G. R.: WAGR syndrome and multiple exostoses in a patient with del(11)(p11.2p14.2). J. Med. Genet. 32: 823-824, 1995.
[0034064]24652.Potocki, L.; Greenberg, F.; Shaffer, L. G.: Interstitial deletion of 11(p12p11.2): a rare chromosomal syndrome with mental retardation, parietal foramina, and multiple exostoses. (Abstract) Am. J. Hum. Genet. 57: A123, 1995.
[0034065]24653.Potocki, L.; Shaffer, L. G.: Interstitial deletion of 11(p11.2p12): a newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2). Am. J. Med. Genet. 62: 319-325, 1996.
[0034066]24654.Quirini, G. E.; Meyer, J. R.; Herman, M.; Russell, E. J.: Osteochondroma of the thoracic spine: an unusual cause of spinal cord compression. Am. J. Neuroradiol. 17: 961-964, 1996.
[0034067]24655.Simmons, A. D.; Musy, M. M.; Lopes, C. S.; Hwang, L.-Y.; Yang, Y.-P.; Lovett, M.: A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses. Hum. Molec. Genet. 8: 2155-2164, 1999.
[0034068]24656.Stickens, D.; Clines, G.; Burbee, D.; Ramos, P.; Thomas, S.; Hogue, D.; Hecht, J. T.; Lovett, M.; Evans, G. A.: The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes. Nature Genet. 14: 25-32, 1996.
[0034069]24657.Stickens, D.; Evans, G. A.: Isolation and characterization of the murine homolog of the human EXT2 multiple exostoses gene. Biochem. Molec. Med. 61: 16-21, 1997.
[0034070]24658.Wu, Y.-Q.; Heutink, P.; de Vries, B. B. A.; Sandkuijl, L. A.; van den Ouweland, A. M. W.; Niermeijer, M. F.; Galjaard, H.; Reyniers, E.; Willems, P. J.; Halley, D. J. J.: Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11. Hum. Molec. Genet. 3: 167-171, 1994.
[0034071]24659.Joutel, A.; Favrole, P.; Labauge, P.; Chabriat, H.; Lescoat, C.; Andreux, F.; Domenga, V.; Cecillon, M.; Vahedi, K.; Ducros, A.; Cave-Riant, F.; Bousser, M. G.; Tournier-Lasserve, E.: Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis. Lancet 358: 2049-2051, 2001.
[0034072]24660.Aoki, M.; Abe, K.; Kameya, T.; Watanabe, M.; Itoyama, Y.: Maternal anticipation of DRPLA. Hum. Molec. Genet. 3: 1197-1198, 1994.
[0034073]24661.Barinaga, M.: An intriguing new lead on Huntington's disease. Science 271: 1233-1234, 1996.
[0034074]24662.Burke, J. R.; Enghild, J. J.; Martin, M. E.; Jou, Y.-S.; Myers, R. M.; Roses, A. D.; Vance, J. M.; Strittmatter, W. J.: Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH. Nature Med. 2: 347-350, 1996.
[0034075]24663.Burke, J. R.; Wingfield, M. S.; Lewis, K. E.; Roses, A. D.; Lee, J. E.; Hulette, C.; Pericak-Vance, M. A.; Vance, J. M.: The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family. Nature Genet. 7: 521-524, 1994.
[0034076]24664.Cancel, G.; Durr, A.; Stevanin, G.; Chneiweiss, H.; Duyckaerts, C.; Serdaru, M.; de Toffol, B.; Agid, Y.; Brice, A.: Is DRPLA also linked to 14q? (Letter) Nature Genet. 6: 8, 1994.
[0034077]24665.Connarty, M.; Dennis, N. R.; Patch, C.; Macpherson, J. N.; Harvey, J. F.: Molecular reinvestigation of patients with Huntington's disease in Wessex reveals a family with dentatorubral and pallidoluysian atrophy. Hum. Genet. 97: 76-78, 1996.
[0034078]24666.Dubourg, O.; Durr, A.; Chneiweiss, H.; Stevanin, G.; Cancel, G.; Penet, C.; Agid, Y.; Brice, A.: La forme ataxo-choreique de DRPLA existe-t-elle en Europe? Recherche de la mutation dans 120 familles. Rev. Neurol. (Paris) 151: 657-660, 1995.
[0034079]24667.Hayashi, Y.; Kakita, A.; Yamada, M.; Koide, R.; Igarashi, S.; Takano, H.; Ikeuchi, T.; Wakabayashi, K.; Egawa, S.; Tsuji, S.; Takahashi, H.: Hereditary dentatorubral-pallidoluysian atrophy: detection of widespread ubiquitinated neuronal and glial intranuclear inclusions in the brain. Acta Neuropath. 96: 547-552, 1998.
[0034080]24668.Hirayama, K.; Iizuka, R.; Maehara, K.; Watanabe, T.: Clinicopathological study of dentatorubro-pallidoluysian atrophy. Part 1. Its clinical form and analysis of symptomatology. Shinkei Kenkyu no Shinpo 25: 725-736, 1981.
[0034081]24669.Hirayama, K.; Takayanagi, T.; Nakamura, R.; Yanagisawa, N.; Hattori, T.; Kita, K.; Yanagimoto, S.; Fujita, M.; Nagaoka, M.; Satomura, Y.; Sobue, I.; Iizuka, R.; Toyokura, Y.; Satoyoshi, E.: Spinocerebellar degenerations in Japan: a nationwide epidemiological and clinical study. Acta Neurol. Scand. 89 (suppl. 153): 1-22, 1994.
[0034082]24670.Iizuka, R.; Hirayama, K.; Maehara, K.: Dentatorubro-pallidoluysian atrophy: a clinicopathological study. J. Neurol. Neurosurg. Psychiat. 47: 1288-1298, 1984.
[0034083]24671.Ikeuchi, T.; Igarashi, S.; Takiyama, Y.; Onodera, O.; Oyake, M.; Takano, H.; Koide, R.; Tanaka, H.; Tsuji, S.: Non-mendelian transmission in dentatorubral-pallidoluysian atrophy and Machado-Joseph disease: the mutant allele is preferentially transmitted in male meiosis. Am. J. Hum. Genet. 58: 730-733, 1996.
[0034084]24672.Iwabuchi, K.; Amano, N.; Yokoi, S.; Nakano, T.; Yagishita, S. : Two familial cases of dentato-rubro-pallidoluysian atrophy with pseudo-Huntington's chorea (in Japanese). Clin. Neurol. 25: 1052-1060, 1985.
[0034085]24673.Eubanks, J. H.; Djabali, M.; Selleri, L.; Grandy, D. K.; Civelli, O.; McElligott, D. L.; Evans, G. A.: Structure and linkage of the D2 dopamine receptor and neural cell adhesion molecule genes on human chromosome 11q23. Genomics 14: 1010-1018, 1992.
[0034086]24674.Gejman, P. V.; Ram, A.; Gelernter, J.; Friedman, E.; Cao, Q.; Pickar, D.; Blum, K.; Noble, E. P.; Kranzler, H. R.; O'Malley, S.; Hamer, D. H.; Whitsitt, F.; Rao, P.; DeLisi, L. E.; Virkkunen, M.; Linnoila, M.; Goldman, D.; Gershon, E. S.: No structural mutation in the dopamine D2 receptor gene in alcoholism or schizophrenia: analysis using denaturing gradient gel electrophoresis. J.A.M.A. 271: 204-208, 1994.
[0034087]24675.Gelernter, J.; Grandy, D. K.; Bunzow, J.; Pakstis, A. J.; Civelli, O.; Retief, A. E.; Litt, M.; Kidd, K. K.: D(2) dopamine receptor locus (probe hD2G1) maps close to D11S29 (probe L7) and is also linked to PBGD (probe PBGD0.0) and D11S84 (probe p-2-7-ID6) on 11q. (Abstract) Cytogenet. Cell Genet. 51: 1002 only, 1989.
[0034088]24676.Gelernter, J.; Pakstis, A. J.; Grandy, D.; Litt, M.; Retief, A. E.; Kennedy, J. L.; Hing-Loh, A.; Schoolfield, G.; Civelli, O.; Kidd, K. K.: Linkage map of eight human chromosome 11q markers, including DRD2, spanning 60 cM. Cytogenet. Cell Genet. 60: 26-28, 1992.
[0034089]24677.Gelernter, J.; Pakstis, A. J.; Pauls, D. L.; Kurlan, R.; Gancher, S. T.; Civelli, O.; Grandy, D.; Kidd, K. K.: Gilles de la Tourette syndrome is not linked to D2-dopamine receptor. Arch. Gen. Psychiat. 47: 1073-1077, 1990.
[0034090]24678.Giros, B.; Sokoloff, P.; Martres, M.-P.; Riou, J.-F.; Emorine, L. J.; Schwartz, J.-C.: Alternative splicing directs the expression of two D(2) dopamine receptor isoforms. Nature 342: 923-926, 1989.
[0034091]24679.Grandy, D. K.; Litt, M.; Allen, L.; Bunzow, J. R.; Marchionni, M.; Makam, H.; Reed, L.; Magenis, R. E.; Civelli, O.: The human dopamine D(2) receptor gene is located on chromosome 11 at q22-q23 and identifies a TaqI RFLP. Am. J. Hum. Genet. 45: 778-785, 1989.
[0034092]24680.Grandy, D. K.; Marchionni, M. A.; Makam, H.; Stofko, R. E.; Alfano, M.; Frothingham, L.; Fischer, J. B.; Burke-Howie, K. J.; Bunzow, J. R.; Server, A. C.; Civelli, O.: Cloning of the cDNA and gene for a human D2 dopamine receptor. Proc. Nat. Acad. Sci. 86: 9762-9766, 1989.
[0034093]24681.Klein, C.; Brin, M. F.; Kramer, P.; Sena-Esteves, M.; de Leon, D.; Doheny, D.; Bressman, S.; Fahn, S.; Breakefield, X. O.; Ozelius, L. J.: Association of a missense change in the D2 dopamine receptor with myoclonus dystonia. Proc. Nat. Acad. Sci. 96: 5173-5176, 1999.
[0034094]24682.Maldonado, R.; Salardi, A.; Valverde, O.; Samad, T. A.; Roques, B. P.; Borrelli, E.: Absence of opiate rewarding effects in mice lacking dopamine D2 receptors. Nature 388: 586-589, 1997.
[0034095]24683.Milligan, G.: Receptors as kissing cousins. Science 288: 65-67, 2000.
[0034096]24684.Monsma, F. J., Jr.; McVittie, L. D.; Gerfen, C. R.; Mahan, L. C.; Sibley, D. R.: Multiple D(2) dopamine receptors produced by alternative RNA splicing. Nature 342: 926-929, 1989.
[0034097]24685.Oliveri, R. L.; Annesi, G.; Zappia, M.; Civitelli, D.; Montesanti, R.; Branca, D.; Nicoletti, G.; Spadafora, P.; Pasqua, A. A.; Cittadella, R.; Andreoli, V.; Gambardella, A.; Aguglia, U.; Quattrone, A.: Dopamine D2 receptor gene polymorphism and the risk of levodopa-induced dyskinesias in PD. Neurology 53: 1425-1430, 1999.
[0034098]24686.Rocheville, M.; Lange, D. C.; Kumar, U.; Patel, S. C.; Patel, R. C.; Patel, Y. C.: Receptors for dopamine and somatostatin: formation of hetero-oligomers with enhanced functional activity. Science 288: 154-157, 2000.
[0034099]24687.Smith, M.; Wasmuth, J.; McPherson, J. D.; Wagner, C.; Grandy, D.; Civelli, O.; Potkin, S.; Litt, M.: Cosegregation of an 11q22.3-9p22 translocation with affective disorder: proximity of the dopamine D2 receptor gene relative to the translocation breakpoint. (Abstract) Am. J. Hum. Genet. 45 (suppl.): A220 only, 1989.
[0034100]24688.St Clair, D.; Blackwood, D.; Muir, W.; Carothers, A.; Walker, M.; Spowart, G.; Gosden, C.; Evans, H. J.: Association within a family of a balanced autosomal translocation with major mental illness. Lancet 336: 13-16, 1990.
[0034101]24689.Suarez, B. K.; Parsian, A.; Hampe, C. L.; Todd, R. D.; Reich, T.; Cloninger, C. R.: Linkage disequilibria at the D2 dopamine receptor locus (DRD2) in alcoholics and controls. Genomics 19: 12-20, 1994.
[0034102]24690.Usiello, A.; Baik, J.-H.; Rouge-Pont, F.; Picetti, R.; Dierich, A.; LeMeur, M.; Piazza, P. V.; Borrelli, E.: Distinct functions of the two isoforms of dopamine D2 receptors. Nature 408: 199-203, 2000.
[0034103]24691.Wang, J.; Liu, Z.-L.; Chen, B.: Association study of dopamine D2, D3 receptor gene polymorphisms with motor fluctuations in PD. Neurology 56: 1757-1759, 2001.
[0034104]24692.Accili, D.; Fishburn, C. S.; Drago, J.; Steiner, H.; Lachowicz, J. E.; Park, B.-H.; Gauda, E. B.; Lee, E. J.; Cool, M. H.; Sibley, D. R.; Gerfen, C. R.; Westphal, H.; Fuchs, S.: A targeted mutation of the D3 dopamine receptor gene is associated with hyperactivity in mice. Proc. Nat. Acad. Sci. 93: 1945-1949, 1996.
[0034105]24693.Asico, L. D.; Ladines, C.; Fuchs, S.; Accili, D.; Carey, R. M.; Semeraro, C.; Pocchiari, F.; Felder, R. A.; Eisner, G. M.; Jose, P. A.: Disruption of the dopamine D3 receptor gene produces renindependent hypertension. J. Clin. Invest. 102: 493-498, 1998.
[0034106]24694.Crocq, M.-A.; Mant, R.; Asherson, P.; Williams, J.; Hode, Y.; Mayerova, A.; Collier, D.; Lannfelt, L.; Sokoloff, P.; Schwartz, J.-C.; Gill, M.; Macher, J.-P.; McGuffin, P.; Owen, M. J.: Association between schizophrenia and homozygosity at the dopamine D3 receptor gene. J. Med. Genet. 29: 858-860, 1992.
[0034107]24695.Guillin, O.; Diaz, J.; Carroll, P.; Griffon, N.; Schwartz, J.-C.; Sokoloff, P.: BDNF controls dopamine D3 receptor expression and triggers behavioural sensitization. Nature 411: 86-89, 2001.
[0034108]24696.Ilani, T.; Ben-Shachar, D.; Strous, R. D.; Mazor, M.; Sheinkman, A.; Kotler, M.; Fuchs, S.: A peripheral marker for schizophrenia: increased levels of D3 dopamine receptor mRNA in blood lymphocytes. Proc. Nat. Acad. Sci. 98: 625-628, 2001.
[0034109]24697.Le Coniat, M.; Sokoloff, P.; Hillion, J.; Martres, M.-P.; Giros, B.; Pilon, C.; Schwartz, J.-C.; Berger, R.: Chromosomal localization of the human D-3 dopamine receptor gene. Hum. Genet. 87: 618-620, 1991.
[0034110]24698.Nanko, S.; Sasaki, T.; Fukuda, R.; Hattori, M.; Dai, X. Y.; Kazamatsuri, H.; Kuwata, S.; Juji, T.; Gill, M.: A study of the association between schizophrenia and the dopamine D3 receptor gene. Hum. Genet. 92: 336-338, 1993.
[0034111]24699.Nothen, M. M.; Cichon, S.; Propping, P.; Fimmers, R.; Schwab, S. G.; Wildenauer, D. B.: Excess of homozygosity at the dopamine D3 receptor gene in schizophrenia not confirmed. (Letter) J. Med. Genet. 30: 708-712, 1993.
[0034112]24700.Bevilacqua, M.; Butcher, E.; Furie, B.; Furie, B.; Gallatin, M.; Gimbrone, M.; Harlan, J.; Kishimoto, K.; Lasky, L.; McEver, R.; Paulson, J.; Rosen, S.; Seed, B.; Siegelman, M.; Springer, T.; Stoolman, L.; Tedder, T.; Varki, A.; Wagner, D.; Weissman, I.; Zimmerman, G.: Selectins: a family of adhesion receptors. (Letter) Cell 67: 233 only, 1991.
[0034113]24701.Bevilacqua, M. P.; Stengelin, S.; Gimbrone, M. A., Jr.; Seed, B. : Endothelial leukocyte adhesion molecule 1: an inducible receptor for neutrophils related to complement regulatory proteins and lectins. Science 243: 1160-1165, 1989.
[0034114]24702.Collins, T.; Williams, A.; Johnston, G. I.; Kim, J.; Eddy, R.; Shows, T.; Gimbrone, M. A., Jr.; Bevilacqua, M. P.: Structure and chromosomal location of the gene for endothelial-leukocyte adhesion molecule 1. J. Biol. Chem. 266: 2466-2473, 1991.
[0034115]24703.DeLisser, H. M.; Christofidou-Solomidou, M.; Sun, J.; Nakada, M. T.; Sullivan, K. E.: Loss of endothelial surface expression of E-selectin in a patient with recurrent infections. Blood 94: 884-894, 1999.
[0034116]24704.Wang, N.; Chintala, S. K.; Fini, M. E.; Schuman, J. S.: Activation of a tissue-specific stress response in the aqueous outflow pathway of the eye defines the glaucoma disease phenotype. Nature Med. 7: 304-309, 2001.
[0034117]24705.Watson, M. L.; Kingsmore, S. F.; Johnston, G. I.; Siegelman, M. H.; Le Beau, M. M.; Lemons, R. S.; Bora, N. S.; Howard, T. A.; Weissman, I. L.; McEver, R. P.; Seldin, M. F.: Genomic organization of the selectin family of leukocyte adhesion molecules on human and mouse chromosome 1. J. Exp. Med. 172: 263-272, 1990.
[0034118]24706.Wenzel, K.; Felix, S.; Kleber, F. X.; Brachold, R.; Menke, T.; Schattke, S.; Schulte, K. L.; Glaser, C.; Rohde, K.; Baumann, G.; Speer, A.: E-selectin polymorphism and atherosclerosis: an association study. Hum. Molec. Genet. 3: 1935-1937, 1994.
[0034119]24707.Zheng, F.; Chevalier, J. A.; Zhang, L. Q.; Virgil, D.; Ye, S. Q.; Kwiterovich, P. O.: An HphI polymorphism in the E-selectin gene is associated with premature coronary artery disease. Clin. Genet. 59: 58-64, 2001.
[0034120]24708.Burgess, W. H.; Mehlman, T.; Marshak, D. R.; Fraser, B. A.; Maciag, T.: Structural evidence that endothelial cell growth factor beta is the precursor of both endothelial cell growth factor alpha and acidic fibroblast growth factor. Proc. Nat. Acad. Sci. 83: 7216-7220, 1986.
[0034121]24709.Eckenstein, F. P.: Fibroblast growth factors in the nervous system. J. Neurobiol. 25: 1467-1480, 1994.
[0034122]24710.Gautschi-Sova, P.; Muller, T.; Bohlen, P.: Amino acid sequence of human acidic fibroblast growth factor. Biochem. Biophys. Res. Commun. 140: 874-880, 1986.
[0034123]24711.Jaye, M.; Howk, R.; Burgess, W.; Ricca, G. A.; Chiu, I.-M.; Ravera, M. W.; O'Brien, S. J.; Modi, W. S.; Maciag, T.; Drohan, W. N.: Human endothelial cell growth factor: cloning, nucleotide sequence, and chromosome localization. Science 233: 541-545, 1986.
[0034124]24712.Jung, J.; Zheng, M.; Goldfarb, M.; Zaret, K. S.: Initiation of mammalian liver development from endoderm by fibroblast growth factors. Science 284: 1998-2003, 1999.
[0034125]24713.Mergia, A.; Eddy, R.; Abraham, J. A.; Fiddes, J. C.; Shows, T. B.: The genes for basic and acidic fibroblast growth factors are on different human chromosomes. Biochem. Biophys. Res. Commun. 138: 644-651, 1986.
[0034126]24714.Pellegrini, L.; Burke, D. F.; von Delft, F.; Mulloy, B.; Blundell, T. L.: Crystal structure of fibroblast growth factor receptor ectodomain bound to ligand and heparin. Nature 407: 1029-1034, 2000.
[0034127]24715.Plotnikov, A. N.; Hubbard, S. R.; Schlessinger, J.; Mohammadi, M.: Crystal structures of two FGF-FGFR complexes reveal the determinants of ligand-receptor specificity. Cell 101: 413-424, 2000.
[0034128]24716.Wang, W.-P.; Lehtoma, K.; Varban, M. L.; Krishnan, I.; Chiu, I.-M. : Cloning of the gene coding for human class 1 heparin-binding growth factor and its expression in fetal tissues. Molec. Cell. Biol. 9: 2387-2395, 1989.
[0034129]24717.Kayes-Wandover, K.; White, P. C.: Steroidogenic enzyme gene expression in the human heart. J. Clin. Endocr. Metab. 85: 2519-2525, 2000.
[0034130]24718.Carrero-Valenzuela, R. D.; Quan, F.; Lightowlers, R.; Kennaway, N. G.; Litt, M.; Forte, M.: Human cytochrome c oxidase subunit VIb: characterization and mapping of a multigene family. Gene 102: 229-236, 1991.
[0034131]24719.Taanman, J.-W.; Schrage, C.; Ponne, N.; Bolhuis, P.; de Vries, H.; Agsteribbe, E.: Nucleotide sequence of cDNA encoding subunit VIb of human cytochrome c oxidase. Nucleic Acids Res. 17: 1766 only, 1989.
[0034132]24720.Taanman, J.-W.; van der Veen, A. Y.; Schrage, C.; de Vries, H.; Buys, C. H. C. M.: Assignment of the gene coding for human cytochrome c oxidase subunit VIb to chromosome 19, band q13.1, by fluorescence in situ hybridisation. Hum. Genet. 87: 325-327, 1991.
[0034133]24721.Freddi, S.; Savarirayan, R.; Bateman, J. F.: Molecular diagnosis of Stickler syndrome: A COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability. Am. J. Med. Genet. 90: 398-406, 2000.
[0034134]24722.Griffith, A. J.; Sprunger, L. K.; Sirko-Osadsa, D. A.; Tiller, G. E.; Meisler, M. H.; Warman, M. L.: Marshall syndrome associated with a splicing defect at the COL11A1 gene. Am. J. Hum. Genet. 62: 816-823, 1998.
[0034135]24723.Cox, D. R.; Epstein, L. B.; Epstein, C. J.: Genes coding for sensitivity to interferon (IfRec) and soluble superoxide dismutase (SOD-1) are linked in mouse and man and map to mouse chromosome 16. Proc. Nat. Acad. Sci. 77: 2168-2172, 1980.
[0034136]24724.De Clercq, E.; Edy, V. G.; Cassiman, J.-J.: Chromosome 21 does not code for an interferon receptor. Nature 264: 249-251, 1976.
[0034137]24725.Epstein, L. B.; Epstein, C. J.: Localization of the gene AVG for the antiviral expression of immune and classical interferon to the distal portion of the long arm of chromosome 21. J. Infect. Dis. 133 (suppl.): A56-A62, 1976.
[0034138]24726.Faltynek, C. R.; Branca, A. A.; McCandless, S.; Baglioni, C.: Characterization of an interferon receptor on human lymphoblastoid cells. Proc. Nat. Acad. Sci. 80: 3269-3273, 1983.
[0034139]24727.Fournier, A.; Zhang, Z. Q.; Tan, Y. H.: Human beta:alpha but not gamma interferon binding site is a product of the chromosome 21 interferon action gene. Somat. Cell Molec. Genet. 11: 291-295, 1985.
[0034140]24728.Lutfalla, G.; Gardiner, K.; Proudhon, D.; Vielh, E.; Uze, G.: The structure of the human interferon alpha/beta receptor gene. J. Biol. Chem. 267: 2802-2809, 1992.
[0034141]24729.Lutfalla, G.; Roeckel, N.; Mogensen, K. E.; Mattei, M. G.; Uze, G.: Assignment of the human interferon-alpha receptor gene to chromosome 21q22.1 by in situ hybridization. J. Interferon Res. 10: 515-517, 1990.
[0034142]24730.Maroun, L. E.: Interferon action and chromosome 21 trisomy. (Letter) J. Theor. Biol. 86: 603-606, 1980.
[0034143]24731.Novick, D.; Cohen, B.; Rubinstein, M.: The human interferon alpha/beta receptor: characterization and molecular cloning. Cell 77: 391-400, 1994.
[0034144]24732.Raziuddin, A.; Sarkar, F. H.; Dutkowski, R.; Shulman, L.; Ruddle, F. H.; Gupta, S. L.: Receptors for human alpha and beta interferon but not for gamma interferon are specified by human chromosome 21. Proc. Nat. Acad. Sci. 81: 5504-5508, 1984.
[0034145]24733.Revel, M.; Bash, D.; Ruddle, F. H.: Antibodies to a cell-surface component coded by human chromosome 21 inhibit action of interferon. Nature 260: 139-141, 1976.
[0034146]24734.Calabrese, G.; Crescenzi, C.; Morizio, E.; Palka, G.; Guerra, E.; Alberti, S.: Assignment of TACSTD1 (alias TROP1, M4S1) to human chromosome 2p21 and refinement of mapping of TACSTD2 (alias TROP2, M1S1) to human chromosome 1p32 by in situ hybridization. Cytogenet. Cell Genet. 92: 164-165, 2001.
[0034147]24735.Fornaro, M.; Dell'Arciprete, R.; Stella, M.; Bucci, C.; Nutini, M.; Capri, M. G.; Alberti, S.: Cloning of the gene encoding Trop-2, a cell-surface glycoprotein expressed by human carcinomas. Int. J. Cancer 62: 610-618, 1995.
[0034148]24736.Linnenbach, A. J.; Seng, B. A.; Wu, S.; Robbins, S.; Scollon, M.; Pyrc, J. J.; Druck, T.; Huebner, K.: Retroposition in a family of carcinoma-associated antigen genes. Molec. Cell Biol. 13: 1507-1515, 1993.
[0034149]24737.Linnenbach, A. J.; Wojcierowski, J.; Wu, S.; Pyrc, J. J.; Ross, A. H.; Dietzschold, B.; Speicher, D.; Koprowski, H.: Sequence investigation of the major gastrointestinal tumor-associated antigen gene family, GA733. Proc. Nat. Acad. Sci. 86: 27-31, 1989.
[0034150]24738.Ren, Z.; Lin, P.-Y.; Klintworth, G. K.; Iwata, F.; Munier, F. L.; Schorderet, D. F.; El Matri, L.; Theendakara, V.; Basti, S.; Reddy, M.; Hejtmancik, J. F.: Allelic and locus heterogeneity in autosomal recessive gelatinous drop-like corneal dystrophy. Hum. Genet. 110: 568-577, 2002.
[0034151]24739.Tsujikawa, M.; Kurahashi, H.; Tanaka, T.; Nishida, K.; Shimomura, Y.; Tano, Y.; Nakamura, Y.: Identification of the gene responsible for gelatinous drop-like corneal dystrophy. Nature Genet. 21: 420-423, 1999.
[0034152]24740.Briegel, K.; Lim, K.-C.; Plank, C.; Beug, H.; Engel, J. D.; Zenke, M.: Ectopic expression of a conditional GATA-2/estrogen receptor chimera arrests erythroid differentiation in a hormone-dependent manner. Genes Dev. 7: 1097-1109, 1993.
[0034153]24741.Ciciotte, S. L.; Tsai, F.-Y.; Peters, L. L.: Gata2 maps to mouse chromosome 6. Mammalian Genome 8: 69-70, 1997.
[0034154]24742.Dasen, J. S.; O'Connell, S. M.; Flynn, S. E.; Treier, M.; Gleiberman, A. S.; Szeto, D. P.; Hooshmand, F.; Aggarwal, A. K.; Rosenfeld, M. G.: Reciprocal interactions of Pit1 and GATA2 mediate signaling gradient-induced determination of pituitary cell types. Cell 97: 587-598, 1999.
[0034155]24743.Dorfman, D. M.; Wilson, D. B.; Bruns, G. A.; Orkin, S. H.: Human transcription factor GATA-2: evidence for regulation of preproendothelin-1 gene expression in endothelial cells. J. Biol. Chem. 267: 1279-1285, 1992.
[0034156]24744.Lee, M.-E.; Temizer, D. H.; Clifford, J. A.; Quertermous, T.: Cloning of the GATAbinding protein that regulates endothelin-1 gene expression in endothelial cells. J. Biol. Chem. 266: 16188-16192, 1991.
[0034157]24745.Tsai, F.-Y.; Keller, G.; Kuo, F. C.; Weiss, M.; Chen, J.; Rosenblatt, M.; Alt, F. W.; Orkin, S. H.: An early haematopoietic defect in mice lacking the transcription factor GATA2. Nature 371: 221-226, 1994.
[0034158]24746.Zhou, Y.; Lim, K.-C.; Onodera, K.; Takahashi, S.; Ohta, J.; Minegishi, N.; Tsai, F.-Y.; Orkin, S. H.; Yamamoto, M.; Engel, J. D.: Rescue of the embryonic lethal hematopoietic defect reveals a critical role for GATA-2 in urogenital development. EMBO J. 17: 6689-6700, 1998.
[0034159]24747.Becker-Follmann, J.; Gaa, A.; Bausch, E.; Natt, E.; Scherer, G.; von Deimling, O.: High-resolution mapping of a linkage group on mouse chromosome 8 conserved on human chromosome 16Q. Mammalian Genome 8: 172-177, 1997.
[0034160]24748.Brooks, P. C.; Silletti, S.; von Schalscha, T. L.; Friedlander, M.; Cheresh, D. A.: Disruption of angiogenesis by PEX, a noncatalytic metalloproteinase fragment with integrin binding activity. Cell 92: 391-400, 1998.
[0034161]24749.Collier, I. E.; Bruns, G. A. P.; Goldberg, G. I.; Gerhard, D. S. : On the structure and chromosome location of the 72- and 92-kDa human type IV collagenase genes. Genomics 9: 429-434, 1991.
[0034162]24750.Corry, D. B.; Rishi, K.; Kanellis, J.; Kiss, A.; Song, L.; Xu, J.; Feng, L.; Werb, Z.; Kheradmand, F.: Decreased allergic lung inflammatory cell egression and increased susceptibility to asphyxiation in MMP2-deficiency. Nature Immun. 3: 347-353, 2002.
[0034163]24751.Devarajan, P.; Johnston, J. J.; Ginsberg, S. S.; Van Wart, H. E.; Berliner, N.: Structure and expression of neutrophil gelatinase cDNA: identity with type IV collagenase from HT1080 cells. J. Biol. Chem. 267: 25228-25232, 1992.
[0034164]24752.Fan, Y.-S.; Eddy, R. L.; Huhtala, P.; Byers, M. G.; Haley, L. L.; Henry, W. M.; Tryggvason, K.; Shows, T. B.: Collagenase type IV (CLG4) is mapped to human chromosome 16q21. (Abstract) Cytogenet. Cell Genet. 51: 996, 1989.
[0034165]24753.Huhtala, P.; Chow, L. T.; Tryggvason, K.: Structure of the human type IV collagenase gene. J. Biol. Chem. 265: 11077-11082, 1990.
[0034166]24754.Huhtala, P.; Eddy, R. L.; Fan, Y. S.; Byers, M. G.; Shows, T. B.; Tryggvason, K.: Completion of the primary structure of the human type IV collagenase preproenzyme and assignment of the gene (CLG4) to the q21 region of chromosome 16. Genomics 6: 554-559, 1990.
[0034167]24755.Irwin, J. C.; Kirk, D.; Gwatkin, R. B. L.; Navre, M.; Cannon, P.; Giudice, L. C.: Human endometrial matrix metalloproteinase-2, a putative menstrual proteinase: hormonal regulation in cultured stromal cells and messenger RNA expression during the menstrual cycle. J. Clin. Invest. 97: 438-447, 1996.
[0034168]24756.Itoh, T.; Tanioka, M.; Yoshida, H.; Yoshioka, T.; Nishimoto, H.; Itohara, S.: Reduced angiogenesis and tumor progression in gelatinase A-deficient mice. Cancer Res. 58: 1048-1051, 1998.
[0034169]24757.Kato, T.; Kure, T.; Chang, J.-H.; Gabison, E. E.; Itoh, T.; Itohara, S.; Azar, D. T.: Diminished corneal angiogenesis in gelatinase A-deficient mice. FEBS Lett. 508: 187-190, 2001.
[0034170]24758.Morgunova, E.; Tuuttila, A.; Bergmann, U.; Isupov, M.; Lindqvist, Y.; Schneider, G.; Tryggvason, K.: Structure of human pro-matrix metalloproteinase-2: activation mechanism revealed. Science 284: 1667-1670, 1999.
[0034171]24759.Vu, T. H.: Don't mess with the matrix. Nature Genet. 28: 202-204, 2001.
[0034172]24760.Willecke, K.; Jungbluth, S.; Dahl, E.; Hennemann, H.; Heynkes, R.; Grzeschik, K.-H.: Six genes of the human connexin gene family coding for gap junctional proteins are assigned to four different human chromosomes. Europ. J. Cell Biol. 53: 275-280, 1990.
[0034173]24761.Reed, K. E.; Westphale, E. M.; Larson, D. M.; Wang, H.-Z.; Veenstra, R. D.; Beyer, E. C.: Molecular cloning and functional expression of human connexin37, an endothelial cell gap junction protein. J. Clin. Invest. 91: 997-1004, 1993.
[0034174]24762.Van Camp, G.; Coucke, P.; Speleman, F.; Van Roy, N.; Beyer, E. C.; Oostra, B. A.; Willems, P. J.: The gene for human gap junction protein connexin37 (GJA4) maps to chromosome 1p35.1, in the vicinity of D1S195. Genomics 30: 402-403, 1995.
[0034175]24763.Gelb, B. D.; Zhang, J.; Cotter, P. D.; Gershin, I. F.; Desnick, R. J.: Physical mapping of the human connexin 40 (GJA5) flavin-containing monooxygenase 5, and natriuretic peptide receptor A genes on 1q21. Genomics 39: 409-411, 1997.
[0034176]24764.Kanter, H. L.; Saffitz, J. E.; Beyer, E. C.: Cardiac myocytes express multiple gap junction proteins. Circ. Res. 70: 438-444, 1992.
[0034177]24765.Kanter, H. L.; Saffitz, J. E.; Beyer, E. C.: Molecular cloning of two human cardiac gap junction proteins, connexin40 and connexin45. J. Molec. Cell. Cardiol. 26: 861-868, 1994.
[0034178]24766.Oviedo-Orta, E.; Hoy, T.; Evans, W. H.: Intercellular communication in the immune system: differential expression of connexin40 and 43, and perturbation of gap junction channel functions in peripheral blood and tonsil human lymphocyte subpopulations. Immunology 99: 578-590, 2000.
[0034179]24767.Seul, K. H.; Tadros, P. N.; Beyer, E. C.: Mouse connexin40: gene structure and promoter analysis. Genomics 46: 120-126, 1997.
[0034180]24768.Britz-Cunningham, S. H.; Shah, M. M.; Zuppan, C. W.; Fletcher, W. H.: Mutations of the connexin43 gap-junction gene in patients with heart malformations and defects of laterality. New Eng. J. Med. 332: 1323-1329, 1995.
[0034181]24769.Brueckner, M.; D'Eustachio, P.; Horwich, A. L.: Linkage mapping of a mouse gene, iv, that controls left-right asymmetry of the heart and viscera. Proc. Nat. Acad. Sci. 86: 5035-5038, 1989.
[0034182]24770.Burdine, R. D.; Schier, A. F.: Conserved and divergent mechanisms in left-right axis formation. Genes Dev. 14: 763-776, 2000.
[0034183]24771.Casey, B.; Ballabio, A.: Connexin43 mutations in sporadic and familial defects of laterality. (Letter) New Eng. J. Med. 333: 941, 1995.
[0034184]24772.Corcos, I. A.; Meese, E. U.; Loch-Caruso, R.: Human connexin 43 gene locus, GJA1, sublocalized to band 6q21-q23.2. Cytogenet. Cell Genet. 64: 31-32, 1993.
[0034185]24773.Debrus, S.; Tuffery, S.; Matsuoka, R.; Galal, O.; Sarda, P.; Sauer, U.; Bozio, A.; Tanman, B.; Toutain, A.; Claustres, M.; Le Paslier, D.; Bouvagnet, P.: Lack of evidence for connexin 43 gene mutations in human autosomal recessive lateralization defects. J. Molec. Cell. Cardiol. 29: 1423-1431, 1997.
[0034186]24774.Przylepa, K. A.; Paznekas, W.; Zhang, M.; Golabi, M.; Bias, W.; Bamshad, M. J.; Carey, J. C.; Hall, B. D.; Stevenson, R.; Orlow, S. J.; Cohen, M. M., Jr.; Jabs, E. W.: Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome. Nature Genet. 13: 492-494, 1996.
[0034187]24775.Hai, T.; Liu, F.; Coukos, W. J.; Green, M. R.: Transcription factor ATF cDNA clones: an extensive family of leucine zipper proteins able to selectively form DNA-binding heterodimers. Genes Dev. 3: 2083-2090, 1989.
[0034188]24776.Herzig, S.; Long, F.; Jhala, U. S.; Hedrick, S.; Quinn, R.; Bauer, A.; Rudolph, D.; Schutz, G.; Yoon, C.; Puigserver, P.; Spiegelman, B.; Montminy, M.: CREB regulates hepatic gluconeogenesis through the coactivator PGC-1. Nature 413: 179-183, 2001.
[0034189]24777.Benson, A. M.; Hunkeler, M. J.; Talalay, P.: Increase of NAD(P)H:quinone reductase by dietary antioxidants: possible role in protection against carcinogenesis and toxicity. Proc. Nat. Acad. Sci. 77: 5216-5220, 1980.
[0034190]24778.Chen, L. Z.; Harris, P. C.; Apostolou, S.; Baker, E.; Holman, K.; Lane, S. A.; Nancarrow, J. K.; Whitmore, S. A.; Stallings, R. L.; Hildebrand, C. E.; Richards, R. I.; Sutherland, G. R.; Callen, D. F.: A refined physical map of the long arm of human chromosome 16. Genomics 10: 308-312, 1991.
[0034191]24779.Edwards, Y. H.; Hopkinson, D. A.; Carritt, B.: A genetic characterization of the human diaphorase-4 deficiency. Ann. Hum. Genet. 47: 97-105, 1983.
[0034192]24780.Grzeschik, K.-H.: Assignment of a structural gene for a fourth human diaphorase (DIA-4) to chromosome 16 in man-mouse somatic cell hybrids. Hum. Genet. 53: 189-193, 1980.
[0034193]24781.Jaiswal, A. K.; McBride, O. W.; Adesnik, M.; Nebert, D. W.: Human dioxin-inducible cytosolic NAD(P)H:menadione oxidoreductase: cDNA sequence and localization of gene to chromosome 16. J. Biol. Chem. 263: 13572-13578, 1988.
[0034194]24782.Kelsey, K. T.; Ross, D.; Traver, R. D.; Christiani, D. C.; Zuo, Z. F.; Spitz, M. R.; Wang, M.; Xu, X.; Lee, B. K.; Schwartz, B. S.; Wiencke, J. K.: Ethnic variation in the prevalence of a common NAD(P)H quinone oxidoreductase polymorphism and its implications for anti-cancer chemotherapy. Brit. J. Cancer 76: 852-854, 1997.
[0034195]24783.Lavinha, J.; Morrison, N.; Glasgow, L.; Ferguson-Smith, M. A.: Further evidence for the regional localization of human APRT and DIA4 on chromosome 16. (Abstract) Cytogenet. Cell Genet. 37: 517 only, 1984.
[0034196]24784.Moran, J. L.; Siegel, D.; Ross, D.: A potential mechanism underlying the increased susceptibility of individuals with a polymorphism in NAD(P)H:quinone oxidoreductase 1 (NQO1) to benzene toxicity. Proc. Nat. Acad. Sci. 96: 8150-8155, 1999.
[0034197]24785.Povey, S.; Wilson, D.; Edwards, Y. H.: Assignment of a human diaphorase (DIA-4) to chromosome 16. Ann. Hum. Genet. 43: 349-353, 1980.
[0034198]24786.Radjendirane, V.; Joseph, P.; Lee, Y.-H.; Kimura, S.; Klein-Szanto, A. J. P.; Gonzalez, F. J.; Jaiswal, A. K.: Disruption of the DT diaphorase (NQO1) gene in mice leads to increased menadione toxicity. J. Biol. Chem. 273: 7382-7389, 1998.
[0034199]24787.Rothman, N.; Smith, M. T.; Hayes, R. B.; Traver, R. D.; Hoener, B.; Campleman, S.; Li, G. L.; Dosemeci, M.; Linet, M.; Zhang, L.; Xi, L.; Wacholder, S.; Lu, W.; Meyer, K. B.; Titenko-Holland, N.; Stewart, J. T.; Yin, S.; Ross, D.: Benzene poisoning, a risk factor for hematological malignancy, is associated with the NQO1 609C-T mutation and rapid fractional excretion of chlorzoxazone. Cancer Res. 57: 2839-2842, 1997.
[0034200]24788.Smith, M. T.: Benzene, NQO1, and genetic susceptibility to cancer. (Commentary) Proc. Nat. Acad. Sci. 96: 7624-7626, 1999.
[0034201]24789.Traver, R. D.; Horikoshi, T.; Danenberg, K. D.; Stadlbauer, T. H.; Danenberg, P. V.; Ross, D.; Gibson, N. W.: NAD(P)H:quinone oxidoreductase gene expression in human colon carcinoma cells: characterization of a mutation which modulates DT-diaphorase activity and mitomycin sensitivity. Cancer Res. 52: 797-802, 1992.
[0034202]24790.Traver, R. D.; Siegel, D.; Beall, H. D.; Phillips, R. M.; Gibson, N. W.; Franklin, W. A.; Ross, D.: Characterization of a polymorphism in NAD(P)H: quinone oxidoreductase (DT-diaphorase). Brit. J. Cancer 75: 69-75, 1997.
[0034203]24791.Zhang, L.; Rothman, N.; Wang, Y.; Hayes, R. B.; Li, G.; Dosemeci, M.; Yin, S.; Kolachana, P.; Titenko-Holland, N.; Smith, M. T.: Increased aneusomy and long arm deletion of chromosomes 5 and 7 in the lymphocytes of Chinese workers exposed to benzene. Carcinogenesis 19: 1955-1961, 1998.
[0034204]24792.Zhang, L.; Wang, Y.; Shang, N.; Smith, M. T.: Benzene metabolites induce the loss of long arm deletion of chromosomes 5 and 7 in human lymphocytes. Leukemia Res. 22: 105-113, 1998.
[0034205]24793.Roychoudhury, A. K.; Nei, M.: Human Polymorphic Genes: World Distribution. New York: Oxford Univ. Press (pub.) 1988.
[0034206]24794.Hark, A. T.; Schoenherr, C. J.; Katz, D. J.; Ingram, R. S.; Levrose, J. M.; Tilghman, S. M.: CTCF mediates methylation-sensitive enhancer-blocking activity at the H19/Igf2 locus. Nature 405: 486-489, 2000.
[0034207]24795.Hark, A. T.; Tilghman, S. M.: Chromatin conformation of the H19 epigenetic mark. Hum. Molec. Genet. 7: 1979-1985, 1998.
[0034208]24796.Jones, B. K.; Levorse, J.; Tilghman, S. M.: Deletion of a nuclease-sensitive region between the Igf2 and H19 genes leads to Igf2 misregulation and increased adiposity. Hum. Molec. Genet. 10: 807-814, 2001.
[0034209]24797.Jones, J. M.; Meisler, M. H.; Seldin, M. F.; Lee, B. K.; Eicher, E. M.: Localization of insulin-2 (Ins-2) and the obesity mutant tubby (tub) to distinct regions of mouse chromosome 7. Genomics 14: 197-199, 1992.
[0034210]24798.Rainier, S.; Johnson, L. A.; Dobry, C. J.; Ping, A. J.; Grundy, P. E.; Feinberg, A. P.: Relaxation of imprinted genes in human cancer. Nature 362: 747-749, 1993.
[0034211]24799.Srivastava, M.; Hsieh, S.; Grinberg, A.; Williams-Simons, L.; Huang, S.-P.; Pfeifer, K.: H19 and Igf2 monoallelic expression is regulated in two distinct ways by a shared cis acting regulatory region upstream of H19. Genes Dev. 14: 1186-1195, 2000.
[0034212]24800.Thorvaldsen, J. L.; Duran, K. L.; Bartolomei, M. S.: Deletion of the H19 differentially methylated domain results in loss of imprinted expression of H19 and Igf2. Genes Dev. 12: 3693-3702, 1998.
[0034213]24801.Webber, A.; Ingram, R. S.; Levorse, J. M.; Tilghman, S. M.: Location of enhancers is essential for imprinting of H19 and Igf2 genes. Nature 391: 711-715, 1998.
[0034214]24802.Zhang, Y.; Tycko, B.: Monoallelic expression of the human H19 gene. Nature Genet. 1: 40-44, 1992.
[0034215]24803.Campanelli, J. T.; Hoch, W.; Rupp, F.; Kreiner, T.; Scheller, R. H.: Agrin mediates cell contact-induced acetylcholine receptor clustering. Cell 67: 909-916, 1991.
[0034216]24804.DeChiara, T. M.; Bowen, D. C.; Valenzuela, D. M.; Simmons, M. V.; Poueymirou, W. T.; Thomas, S.; Kinetz, E.; Compton, D. L.; Rojas, E.; Park, J. S.; Smith, C.; DiStefano, P. S.; Glass, D. J.; Burden, S. J.; Yancopoulos, G. D.: The receptor tyrosine kinase MuSK is required for neuromuscular junction formation in vivo. Cell 85: 501-512, 1996.
[0034217]24805.Chan, S. Y.; Empig, C. J.; Welte, F. J.; Speck, R. F.; Schmaljohn, A.; Kreisberg, J. F.; Goldsmith, M. A.: Folate receptor-alpha is a cofactor for cellular entry by Marburg and Ebola viruses. Cell 106: 117-126, 2001.
[0034218]24806.Czeizel, A. E.; Dudas, I.: Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation. New Eng. J. Med. 327: 1832-1835, 1992.
[0034219]24807.De Marco, P.; Moroni, A.; Merello, E.; de Franchis, R.; Andreussi, L.; Finnell, R. H.; Barber, R. C.; Cama, A.; Capra, V.: Folate pathway gene alterations in patients with neural tube defects. Am. J. Med. Genet. 95: 216-223, 2000.
[0034220]24808.Elwood, P. C.: Molecular cloning and characterization of the human folate-binding protein cDNA from placenta and malignant tissue culture (KB) cells. J. Biol. Chem. 264: 14893-14901, 1989.
[0034221]24809.Elwood, P. C.; Nachmanoff, K.; Saikawa, Y.; Page, S. T.; Pacheco, P.; Roberts, S.; Chung, K.-N.: The divergent 5-prime termini of the alpha human folate receptor (hFR) mRNAs originate from two tissue-specific promoters and alternative splicing: characterization of the alpha hFR gene structure. Biochemistry 36: 1467-1478, 1997.
[0034222]24810.Boman, B. M.; Wildrick, D. M.; Alfaro, S. R.: Chromosome 18 allele loss at the D18S6 locus in human colorectal carcinomas. Biochem. Biophys. Res. Commun. 155: 463-469, 1988.
[0034223]24811.Chan, S. S.-Y.; Zheng, H.; Su, M.-W.; Wilk, R.; Killeen, M. T.; Hedgecock, E. M.; Culotti, J. G.: UNC-40, a C. elegans homolog of the DCC (deleted in colorectal cancer), is required in motile cells responding to UNC-6 netrin cues. Cell 87: 187-195, 1996.
[0034224]24812.Sarmanova, J.; Benesova, K.; Gut, I.; Nedelcheva-Kristensen, V.; Tynkova, L.; Soucek, P.: Genetic polymorphisms of biotransformation enzymes in patients with Hodgkin's and non-Hodgkin's lymphomas. Hum. Molec. Genet. 10: 1265-1273, 2001.
[0034225]24813.Albrecht, F. E.; Drago, J.; Felder, R. A.; Printz, M. P.; Eisner, G. M.; Robillard, J. E.; Sibley, D. R.; Westphal, H. J.; Jose, P. A.: Role of the D-1A dopamine receptor in the pathogenesis of genetic hypertension. J. Clin. Invest. 97: 2283-2288, 1996.
[0034226]24814.Bermak, J. C.; Li, M.; Bullock, C.; Zhou, Q.-Y.: Regulation of transport of the dopamine D1 receptor by a new membrane-associated ER protein. Nature Cell Biol. 3: 492-498, 2001.
[0034227]24815.Boultwood, J.; Lewis, M. S.; Wainscoat, J. S.: Physical linkage of glucocorticoid receptor (GRL) and dopamine D1 receptor (DRD1) on the long arm of chromosome 5.(Abstract) Cytogenet. Cell Genet. 58: 1894 only, 1991.
[0034228]24816.Castner, S. A.; Williams, G. V.; Goldman-Rakic, P. S.: Reversal of antipsychoticinduced working memory deficits by short-term dopamine D1 receptor stimulation. Science 287: 2020-2022, 2000.
[0034229]24817.Dearry, A.; Gingrich, J. A.; Falardeau, P.; Fremeau, R. T., Jr.; Bates, M. D.; Caron, M. G.: Molecular cloning and expression of the gene for a human D(1) dopamine receptor. Nature 347: 72-76, 1990.
[0034230]24818.Grandy, D. K.; Zhou, Q.-Y.; Allen, L.; Litt, R.; Magenis, R. E.; Civelli, O.; Litt, M.: A human D(1) dopamine receptor gene is located on chromosome 5 at q35.1 and identifies an EcoRI RFLP. Am. J. Hum. Genet. 47: 828-834, 1990.
[0034231]24819.Krushkal, J.; Xiong, M.; Ferrell, R.; Sing, C. F.; Turner, S. T.; Boerwinkle, E.: Linkage and association of adrenergic and dopamine receptor genes in the distal portion of the long arm of chromosome 5 with systolic blood pressure variation. Hum. Molec. Genet. 7: 1379-1383, 1998.
[0034232]24820.Mayerhofer, A.; Hemmings, H. C., Jr.; Snyder, G. L.; Greengard, P.; Boddien, S.; Berg, U.; Brucker, C.: Functional dopamine-1 receptors and DARPP-32 are expressed in human ovary and granulosa luteal cells in vitro. J. Clin. Endocr. Metab. 84: 257-264, 1999.
[0034233]24821.Sunahara, R. K.; Niznik, H. B.; Weiner, D. M.; Stormann, T. M.; Brann, M. R.; Kennedy, J. L.; Gelernter, J. E.; Rozmahel, R.; Yang, Y.; Israel, Y.; Seeman, P.; O'Dowd, B. F.: Human dopamine D1 receptor encoded by an intronless gene on chromosome 5. Nature 347: 80-83, 1990.
[0034234]24822.Wilkie, T. M.; Chen, Y.; Gilbert, D. J.; Moore, K. J.; Yu, L.; Simon, M. I.; Copeland, N. G.; Jenkins, N. A.: Identification, chromosomal location, and genome organization of mammalian Gprotein-coupled receptors. Genomics 18: 175-184, 1993.
[0034235]24823.Xu, M.; Moratalla, R.; Gold, L. H.; Hiroi, N.; Koob, G. F.; Graybiel, A. M.; Tonegawa, S.: Dopamine D1 receptor mutant mice are deficient in striatal expression of dynorphin and in dopaminemediated behavioral responses. Cell 79: 729-742, 1994.
[0034236]24824.Zhou, Q.-Y.; Grandy, D. K.; Thambi, L.; Kushner, J. A.; Van Tol, H. H. M.; Cone, R.; Pribnow, D.; Salon, J.; Bunzow, J. R.; Civelli, O.: Cloning and expression of human and rat D(1) dopamine receptors. Nature 347: 76-80, 1990.
[0034237]24825.Balk, J.-H.; Picetti, R.; Salardi, A.; Thirlet, G.; Dierich, A.; Depaulls, A.; Le Meur, M.; Borrelli, E.: Parkinsonian-like locomotor impairment in mice lacking dopamine D2 receptors. Nature 377: 424-428, 1995.
[0034238]24826.Basu, S.; Nagy, J. A.; Pal, S.; Vasile, E.; Eckelhoefer, I. A.; Bliss, V. S.; Manseau, E. J.; Dasgupta, P. S.; Dvorak, H. F.; Mukhopadhyay, D.: The neurotransmitter dopamine inhibits angiogenesis induced by vascular permeability factor/vascular endothelial growth factor. Nature Med. 7: 569-574, 2001.
[0034239]24827.Blum, K.; Noble, E. P.; Sheridan, P. J.; Montgomery, A.; Ritchie, T.; Jagadeeswaran, P.; Nogami, H.; Briggs, A. H.; Cohn, J. B.: Allelic association of human dopamine D(2) receptor gene in alcoholism. J.A.M.A. 263: 2055-2060, 1990.
[0034240]24828.Bolos, A. M.; Dean, M.; Lucas-Derse, S.; Ramsburg, M.; Brown, G. L.; Goldman, D.: Population and pedigree studies reveal a lack of association between the dopamine D(2) receptor gene and alcoholism. J.A.M.A. 264: 3156-3160, 1990.
[0034241]24829.Bunzow, J. R.; Van Tol, H. H.; Grandy, D. K.; Albert, P.; Salon, J.; Christie, M.; Machida, C. A.; Neve, K. A.; Civelli, O.: Cloning and expression of a rat D2 dopamine receptor cDNA. Nature 336: 783-787, 1988.
[0034242]24830.Dal Toso, R.; Sommer, B.; Ewert, M.; Herb, A.; Pritchett, D. B.; Bach, A.; Shivers, B. D.; Seeburg, P. H.: The dopamine D(2) receptor: two molecular forms generated by alternative splicing. EMBO J. 8: 4025-4034, 1989.
[0034243]24831.Matsutani, A.; Hing, A.; Steinbrueck, T.; Janssen, R.; Weber, J.; Permutt, M. A.; Donis-Keller, H.: Mapping the human liver/islet glucose transporter (GLUT2) gene within a genetic linkage map of chromosome 3q using a (CA)n dinucleotide repeat polymorphism and characterization of the polymorphism in three racial groups. Genomics 13: 495-501, 1992.
[0034244]24832.Meera Khan, P.: Personal Communication. Leiden, The Netherlands 1977.
[0034245]24833.Garman, S. C.; Kinet, J.-P.; Jardetzky, T. S.: Crystal structure of the human highaffinity IgE receptor. Cell 95: 951-961, 1998.
[0034246]24834.Garman, S. C.; Wurzburg, B. A.; Tarchevskaya, S. S.; Kinet, J.-P.; Jardetzky, T. S.: Structure of the Fc fragment of human IgE bound to its high-affinity receptor Fc-epsilon-RI-alpha. Nature 406: 259-266, 2000.
[0034247]24835.Liu, F.-T.; Albrandt, K.; Robertson, M. W.: cDNA heterogeneity suggests structural variants related to the high-affinity IgE receptor. Proc. Nat. Acad. Sci. 85: 5639-5643, 1988.
[0034248]24836.Shimizu, A.; Tepler, I.; Benfey, P. N.; Berenstein, E. H.; Siraganian, R. P.; Leder, P.: Human and rat mast cell high-affinity immunoglobulin E receptors: characterization of putative alphachain gene products. Proc. Nat. Acad. Sci. 85: 1907-1911, 1988.
[0034249]24837.Miyajima, I.; Dombrowicz, D.; Martin, T. R.; Ravetch, J. V.; Kinet, J.-P.; Galli, S. J.: Systemic anaphylaxis in the mouse can be mediated largely through IgG1 and Fc-gamma-RIII: assessment of the cardiopulmonary changes, mast cell degranulation, and death associated with active or IgE- or IgG1-dependent passive anaphylaxis. J. Clin. Invest. 99: 901-914, 1997.
[0034250]24838.Tepler, I.; Morton, C. C.; Shimizu, A.; Holcombe, R. F.; Eddy, R.; Shows, T. B.; Leder, P.: The gene for the human mast cell high-affinity IgE receptor alpha chain: chromosomal localization to 1q21-q23 and RFLP analysis. Am. J. Hum. Genet. 45: 761-765, 1989.
[0034251]24839.Zhu, D.; Kepley, C. L.; Zhang, M.; Zhang, K.; Saxon, A.: A novel human immunoglobulin Fc-gamma-Fc-epsilon bifunctional fusion protein inhibits Fc-epsilon-RI-mediated degranulation. Nature Med. 8: 518-521, 2002.
[0034252]24840.Bain, G.; Robanus Maandag, E. C.; Izon, D. J.; Amsen, D.; Kruisbeek, A. M.; Weintraub, B. C.; Krop, I.; Schlissel, M. S.; Feeney, A. J.; van Roon, M.; van der Valk, M.; te Riele, H. P. J.; Berns, A.; Murre, C.: E2A proteins are required for proper B cell development and initiation of immunoglobulin gene rearrangements. Cell 79: 885-892, 1994.
[0034253]24841.El Ghouzzi, V.; Legeai-Mallet, L.; Aresta, S.; Benoist, C.; Munnich, A.; de Gunzburg, J.; Bonaventure, J.: Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location. Hum. Molec. Genet. 9: 813-819, 2000.
[0034254]24842.Henthorn, P.; Kiledjian, M.; Kadesch, T.: Two distinct transcription factors that bind the immunoglobulin enhancer mu-E5/kappa-E2 motif. Science 247: 467-470, 1990.
[0034255]24843.Kamps, M. P.; Murre, C.; Sun, X.; Baltimore, D.: A new homeobox gene contributes the DNA binding domain of the t(1;19) translocation protein in pre-B ALL. Cell 60: 547-555, 1990.
[0034256]24844.Mellentin, J. D.; Murre, C.; Donlon, T. A.; McCaw, P. S.; Smith, S. D.; Carroll, A. J.; McDonald, M. E.; Baltimore, D.; Cleary, M. L.: The gene for enhancer binding proteins E12/E47 lies at the t(1;19) breakpoint in acute leukemias. Science 246: 379-382, 1989.
[0034257]24845.Murre, C.; McCaw, P. S.; Baltimore, D. :Cell 56: 777-783, 1989.
[0034258]24846.Nourse, J.; Mellentin, J. D.; Galili, N.; Wilkinson, J.; Stanbridge, E.; Smith, S. D.; Cleary, M. L.: Chromosomal translocation t(1;19) results in synthesis of a homeobox fusion mRNA that codes for a potential chimeric transcription factor. Cell 60: 535-545, 1990.
[0034259]24847.Matsutani, A.; Koranyi, L.; Cox, N.; Permutt, M. A.: Polymorphisms of GLUT2 and GLUT4 genes: use in evaluation of genetic susceptibility to NIDDM in Blacks. Diabetes 39: 1534-1542, 1990.
[0034260]24848.Moller, A. M.; Jensen, N. M.; Pildal, J.; Drivsholm, T.; Borch-Johnsen, K.; Urhammer, S. A.; Hansen, T.; Pedersen, O.: Studies of genetic variability of the glucose transporter 2 promoter in patients with type 2 diabetes mellitus. J. Clin. Endocr. Metab. 86: 2181-2186, 2001.
[0034261]24849.Mueckler, M.; Caruso, C.; Baldwin, S. A.; Panico, M.; Blench, I.; Morris, H. R.; Allard, W. J.; Lienhard, G. E.; Lodish, H. F.: Sequence and structure of a human glucose transporter. Science 229: 941-945, 1985.
[0034262]24850.Mueckler, M.; Kruse, M.; Strube, M.; Riggs, A. C.; Chiu, K. C.; Permutt, M. A.: A mutation in the Glut2 glucose transporter gene of a diabetic patient abolishes transport activity. J. Biol. Chem. 269: 17765-17767, 1994.
[0034263]24851.Muller, D.; Santer, R.; Krawinkel, M.; Christiansen, B.; Schaub, J.: Fanconi-Bickel syndrome presenting in neonatal screening for galactosemia. J. Inherit. Metab. Dis. 20: 607-608, 1997.
[0034264]24852.Oka, Y.; Asano, T.; Shibaskai, Y.; Lin, J.-L.; Tsukuda, K.; Katagiri, H.; Akanuma, Y.; Takaku, F.: C-terminal truncated glucose transporter is locked into an inward-facing form without transport activity. Nature 345: 550-553, 1990.
[0034265]24853.Orci, L.; Thorens, B.; Ravazzola, M.; Lodish, H. F.: Localization of the pancreatic beta cell glucose transporter to specific plasma membrane domains. Science 245: 295-297, 1989.
[0034266]24854.Permutt, M. A.; Koranyi, L.; Keller, K.; Lacy, P. E.; Scharp, D. W.; Mueckler, M.: Cloning and functional expression of a human pancreatic islet glucose-transporter cDNA. Proc. Nat. Acad. Sci. 86: 8688-8692, 1989.
[0034267]24855.Sakamoto, O.; Ogawa, E.; Ohura, T.; Igarashi, Y.; Matsubara, Y.; Narisawa, K.; Iinuma, K.: Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome. Pediat. Res. 48: 586-589, 2000.
[0034268]24856.Sanjad, S. A.; Kaddoura, R. E.; Nazer, H. M.; Akhtar, M.; Sakati, N. A.: Fanconi's syndrome with hepatorenal glycogenosis associated with phosphorylase b kinase deficiency. Am. J. Dis. Child. 147: 957-959, 1993.
[0034269]24857.Santer, R.; Groth, S.; Kinner, M.; Dombrowski, A.; Berry, G. T.; Brodehl, J.; Leonard, J. V.; Moses, S.; Norgren, S.; Skovby, F.; Schneppenheim, R.; Steinmann, B.; Schaub, J.: The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome. Hum. Genet. 110: 21-29, 2002.
[0034270]24858.Santer, R.; Schneppenheim, R.; Dombrowski, A.; Gotze, H.; Steinmann, B.; Schaub, J.: Fanconi-Bickel syndrome--a congenital defect of the liver-type facilitative glucose transporter. J. Inherit. Metab. Dis. 21: 191-194, 1998.
[0034271]24859.Santer, R.; Schneppenheim, R.; Dombrowski, A.; Gotze, H.; Steinmann, B.; Schaub, J.: Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome. Nature Genet. 17: 324-326, 1997. Note: Erratum: Nature Genet. 18: 298 only, 1998.
[0034272]24860.Steinmann, B.; Zeller, L.: Personal Communication. Zurich and Santa Maria Calanca, Switzerland 8/2/1997.
[0034273]24861.Takeda, J.; Kayano, T.; Fukomoto, H.; Bell, G. I.: Organization of the human GLUT2 (pancreatic beta-cell and hepatocyte) glucose transporter gene. Diabetes 42: 773-777, 1993.
[0034274]24862.Tanizawa, Y.; Riggs, A. C.; Chiu, K. C.; Janssen, R. C.; Bell, D. S. H.; Go, R. P. C.; Roseman, J. M.; Acton, R. T.; Permutt, M. A.: Variability of the pancreatic islet beta cell/liver (GLUT 2) glucose transporter gene in NIDDM patients. Diabetologia 37: 420-427, 1994.
[0034275]24863.Thorens, B.; Deriaz, N.; Bosco, D.; DeVos, A.; Pipeleers, D.; Schuit, F.; Meda, P.; Porret, A.: Protein kinase A-dependent phosphorylation of GLUT2 in pancreatic beta cells. J. Biol. Chem. 271: 8075-8081, 1996.
[0034276]24864.Fan, Y.-S.; Eddy, R. L.; Byers, M. G.; Haley, L. L.; Henry, W. M.; Kayano, T.; Shows, T. B.; Bell, G. I.: Assignment of genes encoding three human glucose transporter/transporter-like proteins (GLUT4, GLUT5 and GLUT6) to chromosomes 17, 1 and 5, respectively. (Abstract) Cytogenet. Cell Genet. 51: 997 only, 1989.
[0034277]24865.Gould, G. W.; Holman, G. D.: The glucose transporter family: structure, function and tissue-specific expression. Biochem. J. 295: 329-341, 1993.
[0034278]24866.Hauguel-de Mouzon, S.; Challier, J. C.; Kacemi, A.; Cauzac, M.; Malek, A.; Girard, J.: The GLUT3 glucose transporter isoform is differentially expressed within human placental cell types. J. Clin. Endocr. Metab. 82: 2689-2694, 1997.
[0034279]24867.Kayano, T.; Burant, C. F.; Fukumoto, H.; Gould, G. W.; Fan, Y. S.; Eddy, R. L.; Byers, M. G.; Shows, T. B.; Seino, S.; Bell, G. I. : Human facilitative glucose transporters: isolation, functional characterization, and gene localization of cDNAs encoding an isoform (GLUT5) expressed in small intestine, kidney, muscle, and adipose tissue and an unusual glucose transporter pseudogene-like sequence (GLUT6). J. Biol. Chem. 265: 13276-13282, 1990.
[0034280]24868.Kayano, T.; Fukumoto, H.; Eddy, R. L.; Fan, Y.-S.; Byers, M. G.; Shows, T. B.; Bell, G. I.: Evidence for a family of human glucose transporter-like proteins: sequence and gene localization of a protein expressed in fetal skeletal muscle and other tissues. J. Biol. Chem. 263: 15245-15248, 1988.
[0034281]24869.Gitelman, B. J.; Tomkins, D. J.; Partington, M. W.; Roberts, M. H.; Simpson, N. E.: Gene dosage studies of glutamic oxaloacetic transaminase (GOT) and hexokinase (HK) in two patients with possible partial trisomy 10q. (Abstract) Am. J. Hum. Genet. 32: 41A only, 1980.
[0034282]24870.Junien, C.; Despoisse, S.; Turleau, C.; de Grouchy, J.; Bucher, T.; Fundele, R.: Assignment of phosphoglycerate mutase (PGAMA) to human chromosome 10: regional mapping of GOT1 and PGAMA to subbands 10q26.1 (or q25.3). Ann. Genet. 25: 25-27, 1982.
[0034283]24871.O'Brien, S. J.; Bonner, T. I.; Cohen, M.; O'Connell, C.; Nash, W. G.: Mapping of an endogenous retroviral sequence to human chromosome 18. Nature 303: 74-77, 1983.
[0034284]24872.Overhauser, J.; Mewar, R.; Rojas, K.; Lia, K.; Kline, A. D.; Silverman, G. A.: STS map of genes and anonymous DNA fragments on human chromosome 18 using a panel of somatic cell hybrids. Genomics 15: 387-391, 1993.
[0034285]24873.Yunis, J. J.; Oken, M. M.; Kaplan, M. E.; Ensrud, K. M.; Howe, R. R.; Theologides, A.: Distinctive chromosomal abnormalities in histologic subtypes of non-Hodgkin's lymphoma. New Eng. J. Med. 307: 1231-1236, 1982.
[0034286]24874.Abdalla, S. A.; Pece-Barbara, N.; Vera, S.; Tapia, E.; Paez, E.; Bernabeu, C.; Letarte, M.: Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2. Hum. Molec. Genet. 9: 1227-1237, 2000.
[0034287]24875.Bellon, T.; Corbi, A.; Lastres, P.; Cales, C.; Cebrian, M.; Vera, S.; Cheifetz, S.; Massague, J.; Letarte, M.; Bernabeu, C.: Identification and expression of two forms of the human transforming growth factor-beta-binding protein endoglin with distinct cytoplasmic regions. Europ. J. Immun. 23: 2340-2345, 1993.
[0034288]24876.Bourdeau, A.; Dumont, D. J.; Letarte, M.: A murine model of hereditary hemorrhagic telangiectasia. J. Clin. Invest. 104: 1343-1351, 1999.
[0034289]24877.Fernandez-Ruiz, E.; St. Jacques, S.; Bellon, T.; Letarte, M.; Bernabeu, C.: Assignment of the human endoglin gene (END) to 9q34-qter. Cytogenet. Cell Genet. 64: 204-207, 1993.
[0034290]24878.Gallione, C. J.; Klaus, D. J.; Yeh, E. Y.; Stenzel, T. T.; Xue, Y.; Anthony, K. B.; McAllister, K. A.; Baldwin, M. A.; Berg, J. N.; Lux, A.; Smith, J. D.; Vary, C. P. H.; Craigen, W. J.; Westermann, C. J. J.; Warner, M. L.; Miller, Y. E.; Jackson, C. E.; Guttmacher, A. E.; Marchuk, D. A.: Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles. Hum. Mutat. 11: 286-294, 1998.
[0034291]24879.Gallione, C. J.; Scheessele, E. A.; Reinhardt, D.; Duits, A. J.; Berg, J. N.; Westermann, C. J. J.; Marchuk, D. A.: Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence for a founder effect. Hum. Genet. 107: 40-44, 2000.
[0034292]24880.Gougos, A.; Letarte, M.: Primary structure of endoglin, an RGD-containing glycoprotein of human endothelial cells. J. Biol. Chem. 265: 8361-8364, 1990.
[0034293]24881.Kozak, M.: Context effects and inefficient initiation at non-AUG codons in eucaryotic cell-free translation systems. Molec. Cell. Biol. 9: 5073-5080, 1989.
[0034294]24882.Li, D. Y.; Sorensen, L. K.; Brooke, B. S.; Urness, L. D.; Davis, E. C.; Taylor, D. G.; Boak, B. B.; Wendel, D. P.: Defective angiogenesis in mice lacking endoglin. Science 284: 1534-1537, 1999.
[0034295]24883.Lux, A.; Gallione, C. J.; Marchuk, D. A.: Expression analysis of endoglin missense and truncation mutations: insights into protein structure and disease mechanisms. Hum. Molec. Genet. 9: 745-755, 2000.
[0034296]24884.McAllister, K. A.; Grogg, K. M.; Johnson, D. W.; Gallione, C. J.; Baldwin, M. A.; Jackson, C. E.; Helmbold, E. A.; Markel, D. S.; McKinnon, W. C.; Murrell, J.; McCormick, M. K.; Pericak-Vance, M. A.; Heutink, P.; Oostra, B. A.; Haitjema, T.; Westerman, C. J. J.; Porteous, M. E.; Guttmacher, A. E.; Letarte, M.; Marchuk, D. A.: Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nature Genet. 8: 345-351, 1994.
[0034297]24885.Paquet, M.-E.; Pece-Barbara, N.; Vera, S.; Cymerman, U.; Karabegovic, A.; Shovlin, C.; Letarte, M.: Analysis of several endoglin mutants reveals no endogenous mature or secreted protein capable of interfering with normal endoglin function. Hum. Molec. Genet. 10: 1347-1357, 2001.
[0034298]24886.Pece, N.; Vera, S.; Cymerman, U.; White, R. I., Jr.; Wrana, J. L.; Letarte, M.: Mutant endoglin in hereditary hemorrhagic telangiectasia type 1 is transiently expressed intracellularly and is not a dominant negative. J. Clin. Invest. 100: 2568-2579, 1997.
[0034299]24887.Pece-Barbara, N.; Cymerman, U.; Vera, S.; Marchuk, D. A.; Letarte, M.: Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1. Hum. Molec. Genet. 8: 2171-2181, 1999.
[0034300]24888.Pilz, A.; Woodward, K.; Peters, J.; Povey, S.; Abbott, C.: Comparative mapping of 38 human chromosome 9 loci in the laboratory mouse. (Abstract) Ann. Hum. Genet. 58: 231-232, 1994.
[0034301]24889.Qureshi, S. T.; Gros, P.; Letarte, M.; Malo, D.: The murine endoglin gene (Eng) maps to chromosome 2. Genomics 26: 165-166, 1995.
[0034302]24890.Abbott, C.; Jackson, I. J.; Carritt, B.; Povey, S.: The human homolog of the mouse brown gene maps to the short arm of chromosome 9 and extends the known region of homology with mouse chromosome 4. Genomics 11: 471-473, 1991.
[0034303]24891.Box, N. F.; Wyeth, J. R.; Mayne, C. J.; O'Gorman, L. E.; Martin, N. G.; Sturm, R. A.: Complete sequence and polymorphism study of the human TYRP1 gene encoding tyrosinase-related protein 1. Mammalian Genome 9: 50-53, 1998.
[0034304]24892.Chintamaneni, C. D.; Ramsay, M.; Colman, M.-A.; Fox, M. F.; Pickard, R. T.; Kwon, B. S.: Mapping the human CAS2 gene, the homologue of the mouse brown (b) locus, to human chromosome 9p22-pter. Biochem. Biophys. Res. Commun. 178: 227-235, 1991.
[0034305]24893.Cohen, T.; Muller, R. M.; Tomita, Y.; Shibahara, S.: Nucleotide sequence of the cDNA encoding human tyrosinase-related protein. Nucleic Acids Res. 18: 2807-2808, 1990.
[0034306]24894.Halaban, R.; Moellmann, G.: Murine and human b locus pigmentation genes encode a glycoprotein (gp75) with catalase activity. Proc. Nat. Acad. Sci. 87: 4809-4813, 1990.
[0034307]24895.Bode-Lesniewska, B.; Dours-Zimmermann, M. T.; Odermatt, B. F.; Briner, J.; Heitz, P. U.; Zimmermann, D. R.: Distribution of the large aggregating proteoglycan versican in adult human tissues. J. Histochem. Cytochem. 44: 303-312, 1996.
[0034308]24896.Dours-Zimmermann, M. T.; Zimmermann, D. R.: A novel glycosaminoglycan attachment domain identified in two alternative splice variants of human versican. J. Biol. Chem. 269: 32992-32998, 1994.
[0034309]24897.Iozzo, R. V.; Naso, M. F.; Cannizzaro, L. A.; Wasmuth, J. J.; McPherson, J. D.: Mapping of the versican proteoglycan gene (CSPG2) to the long arm of human chromosome 5 (5q12-5q14). Genomics 14: 845-851, 1992.
[0034310]24898.Kjellen, L.; Lindahl, U.: Proteoglycans: structures and interactions. Annu. Rev. Biochem. 60: 443-475, 1991.
[0034311]24899.Naso, M. F.; Morgan, J. L.; Buchberg, A. M.; Siracusa, L. D.; Iozzo, R. V.: Expression pattern and mapping of the murine versican gene (Cspg2) to chromosome 13. Genomics 29: 297-300, 1995.
[0034312]24900.Naso, M. F.; Zimmermann, D. R.; Iozzo, R. V.: Characterization of the complete genomic structure of the human versican gene and functional analysis of its promoter. J. Biol. Chem. 269: 32999-33008, 1994.
[0034313]24901.Zako, M.; Shinomura, T.; Ujita, M.; Ito, K.; Kimata, K.: Expression of PG-M(V3), an alternatively spliced form of PG-M without a chondroitin sulfate attachment region in mouse and human tissues. J. Biol. Chem. 270: 3914-3918, 1995.
[0034314]24902.Zimmermann, D. R.; Ruoslahti, E.: Multiple domains of the large fibroblast proteoglycan, versican. EMBO J. 8: 2975-2981, 1989.
[0034315]24903.Grunder, S.; Geisler, H.-S.; Rainer, S.; Fink, J. K.: Acid-sensing ion channel (ASIC) 4 gene: physical mapping, genomic organisation, and evaluation as a candidate for paroxysmal dystonia. Europ. J. Hum. Genet. 9: 672-676, 2001.
[0034316]24904.de Vries, W. N.; de Wet, W. J.: The molecular defect in an autosomal dominant form of osteogenesis imperfecta: synthesis of type I procollagen containing cysteine in the triple-helical domain of pro-alpha-1(I) chains. J. Biol. Chem. 261: 9056-9064, 1986.
[0034317]24905.de Vries, W. N.; de Wet, W. J.: Development and diseases of cartilage and bone matrix.In: Sen, A.; Thornhill, T.: UCLA Symposia on Molecular and Cellular Biology--New Series. New York: Alan R. Liss (pub.) 46: 1987.
[0034318]24906.Deak, S. B.; Scholz, P. M.; Amenta, P. S.; Constantinou, C. D.; Levi-Minzi, S. A.; Gonzalez-Lavin, L.; Mackenzie, J. W.: The substitution of arginine for glycine 85 of the alpha-1(I) procollagen chain results in mild osteogenesis imperfecta: the mutation provides direct evidence for three discrete domains of cooperative melting of intact type I collagen. J. Biol. Chem. 266: 21827-21832, 1991.
[0034319]24907.Driesel, A. J.; Schumacher, A. M.; Flavell, R. A.: A Hind III restriction site polymorphism in the human collagen alpha-1(I)-like gene on chromosome no. 7. Hum. Genet. 62: 175-176, 1982.
[0034320]24908.Forlino, A.; Zolezzi, F.; Valli, M.; Pignatti, P. F.; Cetta, G.; Brunelli, P. C.; Mottes, M.: Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix. Hum. Molec. Genet. 3: 2201-2206, 1994.
[0034321]24909.Huerre, C.; Junien, C.; Weil, D.; Chu, M.-L.; Morabito, M.; Van Cong, N.; Myers, J. C.; Foubert, C.; Gross, M.-S.; Prockop, D. J.; Boue, A.; Kaplan, J.-C.; de la Chapelle, A.; Ramirez, F.: Human type I procollagen genes are located on different chromosomes. Proc. Nat. Acad. Sci. 79: 6627-6630, 1982.
[0034322]24910.Izant, J. G.; Weintraub, H.: Inhibition of thymidine kinase gene expression by antisense RNA: a molecular approach to genetic analysis. Cell 36: 1007-1015, 1984.
[0034323]24911.Khillan, J. S.; Li, S.-W.; Prockop, D. J.: Partial rescue of a lethal phenotype of fragile bones in transgenic mice with a chimeric antisense gene directed against a mutated collagen gene. Proc. Nat. Acad. Sci. 91: 6298-6302, 1994.
[0034324]24912.Korkko, J.; Ala-Kokko, L.; De Paepe, A.; Nuytinck, L.; Earley, J.; Prockop, D. J.: Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformationsensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations. Am. J. Hum. Genet. 62: 98-110, 1998.
[0034325]24913.Korkko, J.; Kuivaniemi, H.; Paassilta, P.; Zhuang, J.; Tromp, G.; DePaepe, A.; Prockop, D. J.; Ala-Kokko, L.: Two new recurrent nucleotide mutations in the COL1A1 gene in four patients with osteogenesis imperfecta: about one-fifth are recurrent. Hum. Mutat. 9: 148-156, 1997.
[0034326]24914.Lazarides, E.; Lukens, L. N.: Collagen synthesis on polysomes in vivo and in vitro. Nature N.B. 232: 37-40, 1971.
[0034327]24915.Lund, A. M.; Skovby, F.; Schwartz, M.: (G586V) substitutions in the alpha-1 and alpha-2 chains of collagen I: effect of alpha-chain stoichiometry on the phenotype of osteogenesis imperfecta? Hum. Mutat. 9: 431-436, 1997.
[0034328]24916.Mackay, K.; Lund, A. M.; Raghunath, M.; Steinmann, B.; Dalgleish, R.: SSCP detection of a gly565-to-val substitution in the pro-alpha-1(I) collagen chain resulting in osteogenesis imperfecta type II. Hum. Genet. 91: 439-444, 1993.
[0034329]24917.Marini, J. C.; Grange, D. K.; Gottesman, G. S.; Lewis, M. B.; Koeplin, D. A.: Osteogenesis imperfecta type IV: detection of a point mutation in one alpha-1(I) collagen allele (COL1A1) by RNA/RNA hybrid analysis. J. Biol. Chem. 264: 11893-11900, 1989.
[0034330]24918.Marini, J. C.; Lewis, M. B.; Chen, K.: Moderately severe osteogenesis imperfecta associated with substitutions of serine for glycine in the alpha-1(I) chain of type I collagen. Am. J. Med. Genet. 45: 241-245, 1993.
[0034331]24919.Mayer, S. A.; Rubin, B. S.; Starman, B. J.; Byers, P. H.: Spontaneous multivessel cervical artery dissection in a patient with a substitution of alanine for glycine (G13A) in the alpha-1(I) chain of type I collagen. Neurology 47: 552-556, 1996.
[0034332]24920.Mizuno, T.; Chou, M.; Inouye, M.: A unique mechanism regulating gene expression: translational inhibition by a complementary RNA transcript (micRNA). Proc. Nat. Acad. Sci. 81: 1966-1970, 1984.
[0034333]24921.Mottes, M.; Gomez Lira, M. M.; Valli, M.; Scarano, G.; Lonardo, F.; Forlino, A.; Cetta, G.; Pignatti, P. F.: Paternal mosaicism for a COL1A1 dominant mutation (alpha-1 ser-415) causes recurrent osteogenesis imperfecta. Hum. Mutat. 2: 196-204, 1993.
[0034334]24922.Mottes, M.; Sangalli, A.; Valli, M.; Gomez Lira, M.; Tenni, R.; Buttitta, P.; Pignatti, P. F.; Cetta, G.: Mild dominant osteogenesis imperfecta with intrafamilial variability: the cause is a serine for glycine alpha-1(I) 901 substitution in a type-I collagen gene. Hum. Genet. 89: 480-484, 1992.
[0034335]24923.Munke, M.; Harbers, K.; Jaenisch, R.; Francke, U.: Chromosomal mapping of four different integration sites of Moloney murine leukemia virus including the locus for alpha-1(I) collagen in mouse. Cytogenet. Cell Genet. 43: 140-149, 1986.
[0034336]24924.Namikawa, C.; Suzumori, K.; Fukushima, Y.; Sasaki, M.; Hata, A. : Recurrence of osteogenesis imperfecta because of paternal mosaicism: gly862-to-ser substitution in a type I collagen gene (COL1A1). Hum. Genet. 95: 666-670, 1995.
[0034337]24925.Nicholls, A. C.; Oliver, J.; Renouf, D. V.; Keston, M.; Pope, F. M.: Substitution of cysteine for glycine at residue 415 of one allele of the alpha-1(I) chain of type I procollagen in type III/IV osteogenesis imperfecta. J. Med. Genet. 28: 757-764, 1991.
[0034338]24926.Steinmann, B.; Rao, V. H.; Vogel, A.; Bruckner, P.; Gitzelmann, R.; Byers, P. H.: Cysteine in the triple-helical domain of one allelic product of the alpha-1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta. J. Biol. Chem. 250: 11129-11139, 1984.
[0034339]24927.Albert, L. J.; Inman, R. D.: Molecular mimicry and autoimmunity. New Eng. J. Med. 341: 2068-2074, 1999.
[0034340]24928.Asada, H.; Kawamura, Y.; Maruyama, K.; Kume, H.; Ding, R.-G.; Ji, F. Y.; Kanbara, N.; Kuzume, H.; Sanbo, M.; Yagi, T.; Obata, K.: Mice lacking the 65 kDa isoform of glutamic acid decarboxylase (GAD65) maintain normal levels of GAD67 and GABA in their brains but are susceptible to seizures. Biochem. Biophys. Res. Commun. 229: 891-895, 1996.
[0034341]24929.Baekkeskov, S.; Aanstoot, H.-J.; Christgau, S.; Reetz, A.; Solimena, M.; Cascalho, M.; Folli, F.; Richter-Olesen, H.; Camilli, P.-D.: Identification of the 64K autoantigen in insulin-dependent diabetes as the GABA-synthesizing enzyme glutamic acid decarboxylase. Nature 347: 151-156, 1990.
[0034342]24930.Bu, D.-F.; Erlander, M. G.; Hitz, B. C.; Tillakaratne, N. J. K.; Kaufman, D. L.; Wagner-McPherson, C. B.; Evans, G. A.; Tobin, A. J. : Two human glutamate decarboxylases, 65-kDa GAD and 67-kDa GAD, are each encoded by a single gene. Proc. Nat. Acad. Sci. 89: 2115-2119, 1992.
[0034343]24931.Cram, D. S.; Barnett, L. D.; Joseph, J. L.; Harrison, L. C.: Cloning and partial nucleotide sequence of human glutamic acid decarboxylase cDNA from brain and pancreatic islets. Biochem. Biophys. Res. Commun. 176: 1239-1244, 1991.
[0034344]24932.De Aizpurua, H. J.; Wilson, Y. M.; Harrison, L. C.: Glutamic acid decarboxylase autoantibodies in preclinical insulin-dependent diabetes. Proc. Nat. Acad. Sci. 89: 9841-9845, 1992.
[0034345]24933.Edelhoff, S.; Grubin, C. E.; Karlsen, A. E.; Adler, D. A.; Foster, D.; Disteche, C. M.; Lernmark, A.: Mapping of glutamic acid decarboxylase (GAD) genes. Genomics 17: 93-97, 1993.
[0034346]24934.Jones, D. B.; Armstrong, N. W.: Coxsackie virus and diabetes revisited. (Letter) Nature Med. 1: 284 only, 1995.
[0034347]24935.Karlsen, A. E.; Hagopian, W. A.; Grubin, C. E.; Dube, S.; Disteche, C. M.; Adler, D. A.; Barmeier, H.; Mathewes, S.; Grant, F. J.; Foster, D.; Lernmark, A.: Cloning and primary structure of a human islet isoform of glutamic acid decarboxylase from chromosome 10. Proc. Nat. Acad. Sci. 88: 8337-8341, 1991.
[0034348]24936.Kash, S. F.; Johnson, R. S.; Tecott, L. H.; Noebels, J. L.; Mayfield, R. D.; Hanahan, D.; Baekkeskov, S.: Epilepsy in mice deficient in the 65-kDa isoform of glutamic acid decarboxylase. Proc. Nat. Acad. Sci. 94: 14060-14065, 1997.
[0034349]24937.Kaufman, D. L.; Erlander, M. G.; Clare-Salzler, M.; Atkinson, M. A.; Maclaren, N. K.; Tobin, A. J.: Autoimmunity to two forms of glutamate decarboxylase in insulin-dependent diabetes mellitus. J. Clin. Invest. 89: 283-292, 1992.
[0034350]24938.Lohmann, T.; Hawa, M.; Leslie, R. D. G.; Lane, R.; Picard, J.; Londei, M.: Immune reactivity to glutamic acid decarboxylase 65 in stiff-man syndrome and type 1 diabetes mellitus. Lancet 356: 31-35, 2000.
[0034351]24939.Richter, W.; Endl, J.; Eiermann, T. H.; Brandt, M.; Kientsch-Engel, R.; Thivolet, C.; Jungfer, H.; Scherbaum, W. A.: Human monoclonal islet cell antibodies from a patient with insulindependent diabetes mellitus reveal glutamate decarboxylase as the target antigen. Proc. Nat. Acad. Sci. 89: 8467-8471, 1992.
[0034352]24940.Tian, J.; Lehmann, P. V.; Kaufman, D. L.: T cell cross-reactivity between coxsackievirus and glutamate decarboxylase is associated with a murine diabetes susceptibility allele. J. Exp. Med. 180: 1979-1984, 1994.
[0034353]24941.Chiang, S.-H.; Baumann, C. A.; Kanzaki, M.; Thurmond, D. C.; Watson, R. T.; Neudauer, C. L.; Macara, I. G.; Pessin, J. E.; Saltiel, A. R.: Insulin-stimulated GLUT4 translocation requires the CAP-dependent activation of TC10. Nature 410: 944-948, 2001.
[0034354]24942.Ribon, V.; Printen, J. A.; Hoffman, N. G.; Kay, B. K.; Saltiel, A. R.: A novel, multifunctional c-Cbl binding protein in insulin receptor signaling in 3T3-L1 adipocytes. Molec. Cell. Biol. 18: 872-879, 1998.
[0034355]24943.Astrin, K. H.; Arredondo-Vega, F. X.; Desnick, R. J.; Smith, M. : Assignment of the gene for cytosolic alanine aminotransferase (AAT1) to human chromosome 8. Ann. Hum. Genet. 46: 125-133, 1982.
[0034356]24944.Chen, S.-H.; Giblett, E. R.: Polymorphism of soluble glutamic-pyruvic transaminase: a new genetic marker in man. Science 173: 148-149, 1971.
[0034357]24945.Cook, P. J. L.; Jeremiah, S. J.; Buckton, K. E.: Exclusion mapping of GPT. (Abstract) Cytogenet. Cell Genet. 32: 258 only, 1982.
[0034358]24946.Mombaerts, P.; Wang, F.; Dulac, C.; Vassar, R.; Chao, S. K.; Nemes, A.; Mendelsohn, M.; Edmondson, J.; Axel, R.: The molecular biology of olfactory perception. Cold Spring Harbor Symp. Quant. Biol. 61: 135-145, 1996.
[0034359]24947.Reed, R. R.: Genetic approaches to mammalian olfaction. Cold Spring Harbor Symp. Quant. Biol. 61: 165-172, 1996.
[0034360]24948.Ronnett, G. V.; Snyder, S. H.: Molecular messengers of olfaction. Trends Neurosci. 15: 508-513, 1992.
[0034361]24949.Schwab, S. G.; Hallmayer, J.; Lerer, B.; Albus, M.; Borrmann, M.; Honig, S.; Strauss, M.; Segman, R.; Lichtermann, D.; Knapp, M.; Trixler, M.; Maier, W.; Wildenauer, D. B.: Support for a chromosome 18p locus conferring susceptibility to functional psychoses in families with schizophrenia, by association and linkage analysis. Am. J. Hum. Genet. 63: 1139-1152, 1998.
[0034362]24950.Davignon, I.; Barnard, M.; Gavrilova, O.; Sweet, K.; Wilkie, T. M.: Gene structure of murine Gna11 and Gna15: tandemly duplicated Gq class G protein alpha subunit genes. Genomics 31: 359-366, 1996.
[0034363]24951.Jiang, M.; Pandey, S.; Tran, V. T.; Fong, H. K.: Guanine nucleotide-binding regulatory proteins in retinal pigment epithelial cells. Proc. Nat. Acad. Sci. 88: 3907-3911, 1991.
[0034364]24952.Offermanns, S.; Zhao, L.-P.; Gohla, A.; Sarosi, I.; Simon, M. I.; Wilkie, T. M.: Embryonic cardiomyocyte hypoplasia and craniofacial defects in G-alpha-q/G-alpha-11-mutant mice. EMBO J. 17: 4304-4312, 1998.
[0034365]24953.Strathmann, M. P.; Simon, M. I.: G-alpha-12 and G-alpha-13 subunits define a fourth class of G protein alpha subunits. Proc. Nat. Acad. Sci. 88: 5582-5586, 1991.
[0034366]24954.Ahmed, S. F.; Barr, D. G. D.; Bonthron, D. T.: GNAS1 mutations and progressive osseous heteroplasia. (Letter) New Eng. J. Med. 346: 1669-1670, 2002.
[0034367]24955.Ahmed, S. F.; Dixon, P. H.; Bonthron, D. T.; Stirling, H. F.; Barr, D. G. D.; Kelnar, C. J. H.; Thakker, R. V.: GNAS1 mutational analysis in pseudohypoparathyroidism. Clin. Endocr. 49: 525-531, 1998.
[0034368]24956.Ahrens, W.; Hiort, O.; Staedt, P.; Kirschner, T.; Marschke, C.; Kruse, K.: Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy. J. Clin. Endocr. Metab. 86: 4630-4634, 2001.
[0034369]24957.Aldred, M. A.; Trembath, R. C.: Activating and inactivating mutations in the human GNAS1 gene. Hum. Mutat. 16: 183-189, 2000.
[0034370]24958.Ashley, P. L.; Ellison, J.; Sullivan, K. A.; Bourne, H. R.; Cox, D. R.: Chromosomal assignment of the murine Gi and Gs genes. (Abstract) Am. J. Hum. Genet. 41: A155 only, 1987.
[0034371]24959.Ballare, E.; Mantovani, S.; Lania, A.; Di Blasio, A. M.; Vallar, L.; Spada, A.: Activating mutations of the GS-alpha gene are associated with low levels of GS-alpha protein in growth hormone-secreting tumors. J. Clin. Endocr. Metab. 83: 4386-4390, 1998.
[0034372]24960.Bastepe, M; Pincus, J. E.; Sugimoto, T.; Tojo, K. Kanatani, M.; Azuma, Y.; Kruse, K.; Rosenbloom, A. L.; Koshiyama, H.; Juppner, H. : Positional dissociation between the genetic mutation responsible for pseudohypoparathyroidism type Ib and the associated methylation defect at exon A/B: evidence for a long-range regulatory element within the imprinted GNAS1 locus. Hum. Molec. Genet. 10: 1231-1241, 2001.
[0034373]24961.Bastepe, M.; Juppner, H.: GNAS1 mutations and progressive osseous heteroplasia. (Letter) New Eng. J. Med. 346: 1671 only, 2002.
[0034374]24962.Bastepe, M.; Lane, A. H.; Juppner, H.: Parental uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism. Am. J. Hum. Genet. 68: 1283-1289, 2001.
[0034375]24963.Bianco, P.; Riminucci, M.; Majolagbe, A.; Kuznetsov, S. A.; Collins, M. T.; Mankani, M. H.; Corsi, A.; Bone, H. G.; Wientroub, S.; Spiegel, A. M.; Fisher, L. W.; Robey, P. G.: Mutations of the GNAS1 gene, stromal cell dysfunction, and osteomalacic changes in non-McCune-Albright fibrous dysplasia of bone. J. Bone Miner. Res. 15: 120-128, 2000.
[0034376]24964.Billestrup, N.; Swanson, L. W.; Vale, W.: Growth hormone-releasing factor stimulates proliferation of somatotrophs in vitro. Proc. Nat. Acad. Sci. 83: 6854-6857, 1986.
[0034377]24965.Candeliere, G. A.; Glorieux, F. H.; Prud'Homme, J.; St.-Arnaud, R.: Increased expression of the c-fos proto-oncogene in bone from patients with fibrous dysplasia. New Eng. J. Med. 332: 1546-1551, 1995.
[0034378]24966.Candeliere, G. A.; Roughley, P. J.; Glorieux, F. H.: Polymerase chain reaction-based technique for the selective enrichment and analysis of mosaic arg201 mutations in G alpha s from patients with fibrous dysplasia of bone. Bone 21: 201-206, 1997.
[0034379]24967.Carel, J. C.; Le Stunff, C.; Condamine, L.; Mallet, E.; Chaussain, J. L.; Adnot, P.; Garabedian, M.; Bougneres, P.: Resistance to the lipolytic action of epinephrine: a new feature of protein GS deficiency. J. Clin. Endocr. Metab. 84: 4127-4131, 1999.
[0034380]24968.Carter, A.; Bardin, C.; Collins, R.; Simons, C.; Bray, P.; Spiegel, A.: Reduced expression of multiple forms of the alpha subunit of the stimulatory GTP-binding protein in pseudohypoparathyroidism type Ia. Proc. Nat. Acad. Sci. 84: 7266-7269, 1987.
[0034381]24969.Cattanach, B. M.; Kirk, M.: Differential activity of maternally and paternally derived chromosome regions in mice. Nature 315: 496-498, 1985.
[0034382]24970.Coutant, R.; Lumbroso, S.; Rey, R.; Lahlou, N.; Venara, M.; Rouleau, S.; Sultan, C.; Limal, J.-M.: Macroorchidism due to autonomous hyperfunction of Sertoli cells and GS-alpha gene mutation: an unusual expression of McCune-Albright syndrome in a prepubertal boy. J. Clin. Endocr. Metab. 86: 1778-1781, 2001.
[0034383]24971.Kim, H.-S.; Nagalla, S. R.; Oh, Y.; Wilson, E.; Roberts, C. T., Jr.; Rosenfeld, R. G.: Identification of a family of low-affinity insulin-like growth factor binding proteins (IGFBPs): characterization of connective tissue growth factor as a member of the IGFBP superfamily. Proc. Nat. Acad. Sci. 94: 12981-12986, 1997.
[0034384]24972.Martinerie, C.; Viegas-Pequignot, E.; Guenard, I.; Dutrillaux, B.; Nguyen, V. C.; Bernheim, A.; Perbal, B.: Physical mapping of human loci homologous to the chicken nov protooncogene. Oncogene 7: 2529-2534, 1992.
[0034385]24973.Nakanishi, T.; Yamaai, T.; Asano, M.; Nawachi, K.; Suzuki, M.; Sugimoto, T.; Takigawa, M.: Overexpression of connective tissue growth factor/hypertrophic chondrocyte-specific gene product 24 decreases bone density in adult mice and induces dwarfism. Biochem. Biophys. Res. Commun. 281: 678-681, 2001.
[0034386]24974.O'Donovan, N.; Galvin, M.; Morgan, J. G.: Physical mapping of the CXC chemokine locus on human chromosome 4. Cytogenet. Cell Genet. 84: 39-42, 1999.
[0034387]24975.McGill, J. R.; Boyd, D.; Barrett, K. J.; Drysdale, J. W.; Moore, C. M.: Localization of human ferritin H (heavy) and L (light) subunits by in situ hybridization. (Abstract) Am. J. Hum. Genet. 36: 146S only, 1984.
[0034388]24976.Murray, M. T.; White, K.; Munro, H. N.: Conservation of ferritin heavy subunit gene structure: implications for the regulation of ferritin gene expression. Proc. Nat. Acad. Sci. 84: 7438-7442, 1987.
[0034389]24977.Papadopoulos, P.; Bhavsar, D.; Zappone, E.; David, V.; Jones, C.; Worwood, M.; Drysdale, J.: A second human ferritin H locus on chromosome 11. Cytogenet. Cell Genet. 61: 107-108, 1992.
[0034390]24978.Richard, C. W.; Withers, D. A.; Meeker, T. C.; Myers, R. M.: A radiation hybrid map of the proximal long arm of human chromosome 11 containing the MEN-1 and bcl-1 disease locus. (Abstract) Cytogenet. Cell Genet. 58: 1970 only, 1991.
[0034391]24979.Worwood, M.; Brook, J. D.; Cragg, S. J.; Hellkuhl, B.; Jones, B. M.; Perera, P.; Roberts, S. H.; Shaw, D. J.: Assignment of human ferritin genes to chromosomes 11 and 19q13.3-19qter. Hum. Genet. 69: 371-374, 1985.
[0034392]24980.Wu, K.-J.; Polack, A.; Dalla-Favera, R.: Coordinated regulation of iron-controlling genes, H-ferritin and IRP2, by c-MYC. Science 283: 676-679, 1999.
[0034393]24981.Yachou, A.; Mattei, M. G.; Roeckel, N.; Grandchamp, B.; Beaumont, C.: Mouse ferritin H sequences map to chromosomes 3, 6, and 19. Genomics 9: 204-206, 1991.
[0034394]24982.Yachou, A.-K.; Renaudie, F.; Guenet, J.-L.; Simon-Chazottes, D.; Jones, R.; Grandchamp, B.; Beaumont, C.: Mouse ferritin H multigene family is polymorphic and contains a single multiallelic functional gene located on chromosome 19. Genomics 10: 531-538, 1991.
[0034395]24983.Youssoufian, H.; Chance, P.; Tuck-Muller, C. M.; Jabs, E. W.: Association of a new chromosomal deletion [del(1)(q32q42)] with diaphragmatic hernia: assignment of a human ferritin gene. Hum. Genet. 78: 267-270, 1988.
[0034396]24984.Takeda, J.; Seino, Y.; Tanaka, K.-I.; Fukumoto, H.; Kayano, T.; Takahashi, H.; Mitani, T.; Kurono, M.; Suzuki, T.; Tobe, T.; Imura, H.: Sequence of an intestinal cDNA encoding human gastric inhibitory polypeptide precursor. Proc. Nat. Acad. Sci. 84: 7005-7008, 1987.
[0034397]24985.Xu, W.; Gorman, P. A.; Rider, S. H.; Hedge, P. J.; Moore, G.; Prichard, C.; Sheer, D.; Solomon, E.: Construction of a genetic map of human chromosome 17 by use of chromosome-mediated gene transfer. Proc. Nat. Acad. Sci. 85: 8563-8567, 1988.
[0034398]24986.Fishman, G. I.; Eddy, R. L.; Shows, T. B.; Rosenthal, L.; Leinwand, L. A.: The human connexin gene family of gap junction proteins: distinct chromosomal locations but similar structures. Genomics 10: 250-256, 1991.
[0034399]24987.Campbell, H. D.; Webb, G. C.; Kono, T.; Taniguchi, T.; Ford, J. H.; Young, I. G.: Assignment of the interleukin-2 receptor beta chain gene (Il-2rb) to band E on mouse chromosome 15. Genomics 12: 179-180, 1992.
[0034400]24988.Burgeson, R. E.; Chiquet, M.; Deutzmann, R.; Ekblom, P.; Engel, J.; Kleinman, H.; Martin, G. R.; Meneguzzi, G.; Paulsson, M.; Sanes, J.; Timpl, R.; Tryggvason, K.; Yamada, Y.; Yurchenco, P. D.: A new nomenclature for the laminins. Matrix Biol. 14: 209-211, 1994.
[0034401]24989.Gremlich, S.; Porret, A.; Hani, E. H.; Cherif, D.; Vionnet, N.; Froguel, P.; Thorens, B.: Cloning, functional expression, and chromosomal localization of the human pancreatic islet glucosedependent insulinotropic polypeptide receptor. Diabetes 44: 1202-1208, 1995.
[0034402]24990.Miyawaki, K.; Yamada, Y.; Ban, N.; Ihara, Y.; Tsukiyama, K.; Zhou, H.; Fujimoto, S.; Oku, A.; Tsuda, K.; Toyokuni, S.; Hiai, H.; Mizunoya, W.; and 9 others: Inhibition of gastric inhibitory polypeptide signaling prevents obesity. Nature Med. 8: 738-742, 2002.
[0034403]24991.Stoffel, M.; Fernald, A. A.; Le Beau, M. M.; Bell, G. I.: Assignment of the gastric inhibitory polypeptide receptor gene (GIPR) to chromosome bands 19q13.2-q13.3 by fluorescence in situ hybridization. Genomics 28: 607-609, 1995.
[0034404]24992.Usdin, T. B.; Mezey, E.; Button, D. C.; Brownstein, M. J.; Bonner, T. I.: Gastric inhibitory polypeptide receptor, a member of the secretin-vasoactive intestinal peptide receptor family, is widely distributed in peripheral organs and the brain. Endocrinology 133: 2861-2870, 1993.
[0034405]24993.Volz, A.; Groke, R.; Lankat-Buttgereit, B.; Fehmann, H.-C.; Bode, H. P.; Goke, B.: Molecular cloning, functional expression, and signal transduction of the GIP-receptor cloned from a human insulinoma. FEBS Lett. 373: 23-29, 1995.
[0034406]24994.Yamada, Y.; Hayami, T.; Nakamura, K.; Kaisaki, P. J.; Someya, Y.; Wang, C.-Z.; Seino, S.; Seino, Y.: Human gastric inhibitory polypeptide receptor: cloning of the gene (GIPR) and cDNA. Genomics 29: 773-776, 1995.
[0034407]24995.Miyawaki, K.; Yamada, Y.; Yano, H.; Niwa, H.; Ban, N.; Ihara,Y.; Kubota, A.; Fujimoto, S.; Kajikawa, M.; Kuroe, A.; Tsuda, K.; Hashimoto, H.; Yamashita, T.; Jomori, T.; Tashiro, F.; Miyazaki, J.; Seino, Y. : Glucose intolerance caused by a defect in the entero-insular axis: a study in gastric inhibitory polypeptide receptor knockout mice. Proc. Nat. Acad. Sci. 96: 14843-14847, 1999.
[0034408]24996.Bentley, P. H.; Kenner, G. W.; Sheppard, R. C.: Structure of human gastrins I and II. Nature 209: 583-585, 1966.
[0034409]24997.Boel, E.; Vuust, J.; Norris, F.; Norris, K.; Wind, A.; Rehfeld, J. F.; Marcker, K. A.: Molecular cloning of human gastrin cDNA: evidence for evolution of gastrin by gene duplication. Proc. Nat. Acad. Sci. 80: 2866-2869, 1983.
[0034410]24998.Flejter, W. L.; Barcroft, C. L.; Guo, S.-W.; Lynch, E. D.; Boehnke, M.; Chandrasekharappa, S.; Hayes, S.; Collins, F. S.; Weber, B. L.; Glover, T. W.: Multicolor FISH mapping with Alu-PCR-amplified YAC clone DNA determines the order of markers in the BRCA1 region on chromosome 17q12-q21. Genomics 17: 624-631, 1993.
[0034411]24999.Flejter, W. L.; Kukowska-Latallo, J. F.; Kiousis, S.; Chandrasekharappa, S. C.; King, S. E.; Chamberlain, J. S.: Tetranucleotide repeat polymorphism at D17S846 maps within 40 kb of GAS at 17q12-q22. Hum. Molec. Genet. 2: 1080 only, 1993.
[0034412]25000.Friis-Hansen, L.; Rourke, I. J.; Bundgaard, J. R.; Rehfeld, J. F.; Samuelson, L. C.: Molecular structure and genetic mapping of the mouse gastrin gene. FEBS Lett. 386: 128-132, 1996.
[0034413]25001.Fukushige, S.; Murotsu, T.; Matsubara, K.: Chromosomal assignment of human genes for gastrin, thyrotropin (TSH)-beta subunit and C-erb-2 by chromosome sorting combined with velocity sedimentation and southern hybridization. Biochem. Biophys. Res. Commun. 134: 477-483, 1986.
[0034414]25002.Gregory, R. A.; Tracy, H. J.; Agarwal, K. L.; Grossman, M. I.: Amino acid constitution of two gastrins isolated from Zollinger-Ellison tumor tissue. Gut 10: 603-608, 1969.
[0034415]25003.Ito, R.; Sato, K.; Helmer, T.; Jay, G.; Agarwal, K.: Structural analysis of the gene encoding human gastrin: the large intron contains an Alu sequence. Proc. Nat. Acad. Sci. 81: 4662-4666, 1984.
[0034416]25004.Lund, T.; Geurts van Kessel, A. H. M.; Huan, S.; Dixon, J. E. : The genes for human gastrin and cholecystokinin are located on different chromosomes. Hum. Genet. 73: 77-80, 1986.
[0034417]25005.Lund, T.; Geurts van Kessel, A. H. M.; Westerveld, A.: The human gastrin gene is located at human chromosome 17. (Abstract) Cytogenet. Cell Genet. 40: 683 only, 1985.
[0034418]25006.Wiborg, O.; Berglund, L.; Boel, E.; Norris, F.; Norris, K.; Rehfeld, J. F.; Marcker, K. A.; Vuust, J.: Structure of a human gastrin gene. Proc. Nat. Acad. Sci. 81: 1067-1069, 1984.
[0034419]25007.Justice, M. J.; Gilbert, D. J.; Kinzler, K. W.; Vogelstein, B.; Buchberg, A. M.; Ceci, J. D.; Matsuda, Y.; Chapman, V. M.; Patriotis, C.; Makris, A.; Tsichlis, P. N.; Jenkins, N. A.; Copeland, N. G.: A molecular genetic linkage map of mouse chromosome 18 reveals extensive linkage conservation with human chromosomes 5 and 18. Genomics 13: 1281-1288, 1992.
[0034420]25008.Cox, D. W.; Francke, U.: Direct assignment of orosomucoid to human chromosome 9 and alpha-2-HS-glycoprotein to chromosome 3 using human fetal liver x rat hepatoma hybrids. Hum. Genet. 70: 109-115, 1985.
[0034421]25009.Umetsu, K.; Yuasa, I.; Nishimura, H.; Sasaki, H.; Suzuki, T.: Genetic polymorphisms of orosomucoid and alpha-2-HS-glycoprotein in a Philippine population. Hum. Hered. 38: 287-290, 1988.
[0034422]25010.Triantafilou, K.; Triantafilou, M.; Dedrick, R. L.: A CD14-independent LPS receptor cluster. Nature Immun. 2: 338-345, 2001.
[0034423]25011.Klinger, H. P.: Suppression of tumorigenicity in somatic cell hybrids. I. Suppression and reexpression of tumorigenicity in diploid human x D98/AH2 hybrids and independent segregation of tumorigenicity from other cell phenotypes. Cytogenet. Cell Genet. 27: 254-266, 1980.
[0034424]25012.Lichy, J. H.; Modi, W. S.; Seuanez, H. N.; Howley, P. M.: Identification of a human chromosome 11 gene which is differentially regulated in tumorigenic and nontumorigenic somatic cell hybrids of HeLa cells. Cell Growth Differ. 3: 541-548, 1992.
[0034425]25013.Stanbridge, E. J.: Suppression of malignancy in human cells. Nature 260: 17-20, 1976.
[0034426]25014.Corrigall, V. M.; Arastu, M.; Khan, S.; Shah, C.; Fife, M.; Smeets, T.; Tak, P.-P.; Panayi, G. S.: Functional IL-2 receptor beta (CD122) and gamma (CD132) chains are expressed by fibroblast-like synoviocytes: activation by IL-2 stimulates monocyte chemoattractant protein-1 production. J. Immun. 166: 4141-4147, 2001.
[0034427]25015.Gnarra, J. R.; Otani, H.; Wang, M. G.; McBride, O. W.; Sharon, M.; Leonard, W. J.: Human interleukin 2 receptor beta-chain gene: chromosomal localization and identification of 5-prime regulatory sequences. Proc. Nat. Acad. Sci. 87: 3440-3444, 1990.
[0034428]25016.Hatakeyama, M.; Tsudo, M.; Minamoto, S.; Kono, T.; Doi, T.; Miyata, T.; Miyasaka, M.; Taniguchi, T.: Interleukin-2 receptor beta chain gene: generation of three receptor forms by cloned human alpha and beta chain cDNA's. Science 244: 551-556, 1989.
[0034429]25017.Lamaze, C.; Dujeancourt, A.; Baba, T.; Lo, C. G.; Benmerah, A.; Dautry-Varsat, A.: Interleukin 2 receptors and detergent-resistant membrane domains define a clathrin-independent endocytic pathway. Molec. Cell 7: 661-671, 2001.
[0034430]25018.Shibuya, H.; Yoneyama, M.; Nakamura, Y.; Harada, H.; Hatakeyama, M.; Minamoto, S.; Kono, T.; Doi, T.; White, R.; Taniguchi, T.: The human interleukin-2 receptor beta-chain gene: genomic organization, promoter analysis and chromosomal assignment. Nucleic Acids Res. 18: 3697-3703, 1990.
[0034431]25019.Suzuki, H.; Kundig, T. M.; Furlonger, C.; Wakeham, A.; Timms, E.; Matsuyama, T.; Schmits, R.; Simard, J. J. L.; Ohashi, P. S.; Griesser, H.; Taniguchi, T.; Paige, C. J.; Mak, T. W.: Deregulated T cell activation and autoimmunity in mice lacking interleukin-2 receptor beta. Science 268: 1472-1476, 1995.
[0034432]25020.Tsudo, M.; Kitamura, F.; Miyasaka, M.: Characterization of the interleukin 2 receptor beta chain using three distinct monoclonal antibodies. Proc. Nat. Acad. Sci. 86: 1982-1986, 1989.
[0034433]25021.Ballard, F. J.; Baxter, R. C.; Binoux, M.; Clemmons, D. R.; Drop, S. L. S.; Hall, K.; Hintz, R. L.; Rechler, M. M.; Rutanen, E. M.; Schwander, J. C.: Report on the nomenclature of the IGF binding proteins. J. Clin. Endocr. Metab. 70: 817-818, 1990.
[0034434]25022.Popovici, R. M.; Lu, M.; Bhatia, S.; Faessen, G. H.; Giaccia, A. J.; Giudice, L. C.: Hypoxia regulates insulin-like growth factor-binding protein 1 in human fetal hepatocytes in primary culture: suggestive molecular mechanisms for in utero fetal growth restriction caused by uteroplacental insufficiency. J. Clin. Endocr. Metab. 86: 2653-2659, 2001.
[0034435]25023.Allander, S. V.; Larsson, C.; Ehrenborg, E.; Suwanichkul, A.; Weber, G.; Morris, S. L.; Bajalica, S.; Kiefer, M. C.; Luthman, H.; Powell, D. R.: Characterization of the chromosomal gene and promoter for human insulin-like growth factor binding protein-5. J. Biol. Chem. 269: 10891-10898, 1994.
[0034436]25024.Bauer, M.; Dieterich, W.; Ehnis, T.; Schuppan, D.: Complete primary structure of human collagen type XIV (undulin). Biochim. Biophys. Acta 1354: 183-188, 1997.
[0034437]25025.Dublet, B.; van der Rest, M.: Type XIV collagen, a new homotrimeric molecule extracted from fetal bovine skin and tendon, with a triple helical disulfide-bonded domain homologous to type IX and type XII collagens. J. Biol. Chem. 266: 6853-6858, 1991.
[0034438]25026.Just, M.; Herbst, H.; Hummel, M.; Durkop, H.; Tripier, D.; Stein, H.; Schuppan, D.: Undulin is a novel member of the fibronectin-tenascin family of extracellular matrix glycoproteins. J. Biol. Chem. 266: 17326-17332, 1991.
[0034439]25027.Schnittger, S.; Herbst, H.; Schuppan, D.; Dannenberg, C.; Bauer, M.; Fonatsch, C.: Localization of the undulin gene (UND) to human chromosome band 8q23. Cytogenet. Cell Genet. 68: 233-234, 1995.
[0034440]25028.Schuppan, D.; Cantaluppi, M. C.; Becker, J.; Veit, A.; Bunte, T.; Troyer, D.; Schuppan, F.; Schmid, M.; Ackermann, R.; Hahn, E. G.: Undulin, an extracellular matrix glycoprotein associated with collagen fibrils. J. Biol. Chem. 265: 8823-8832, 1990.
[0034441]25029.Eklund, L.; Piuhola, J.; Komulainen, J.; Sormunen, R.; Ongvarrasopone, C.; Fassler, R.; Muona, A.; Ilves, M.; Ruskoaho, H.; Takala, T. E. S.; Pihlajaniemi, T.: Lack of type XV collagen causes a skeletal myopathy and cardiovascular defects in mice. Proc. Nat. Acad. Sci. 98: 1194-1199, 2001.
[0034442]25030.Hagg, P. M.; Hagg, P. O.; Peltonen, S.; Autio-Harmainen, H.; Pihlajaniemi, T.: Location of type XV collagen in human tissues and its accumulation in the interstitial matrix of the fibrotic kidney. Am. J. Path. 150: 2075-2086, 1997.
[0034443]25031.Hagg, P. M.; Horelli-Kuitunen, N.; Eklund, L.; Palotie, A.; Pihlajaniemi, T.: Cloning of mouse type XV collagen sequences and mapping of the corresponding gene to 4B1-3: comparison of mouse and human alpha-1(XV) collagen sequences indicates divergence in the number of small collagenous domains. Genomics 45: 31-41, 1997.
[0034444]25032.Hagg, P. M.; Muona, A.; Lietard, J.; Kivirikko, S.; Pihlajaniemi, T.: Complete exonintron organization of the human gene for the alpha-1 chain of type XV collagen (COL15A1) and comparison with the homologous Col18a1 gene. J. Biol. Chem. 273: 17824-17831, 1998.
[0034445]25033.Huebner, K.; Cannizzaro, L. A.; Jabs, E. W.; Kivirikko, S.; Manzone, H.; Pihlajaniemi, T.; Myers, J. C.: Chromosomal assignment of a gene encoding a new collagen type (COL15A1) to 9q21-q22. Genomics 14: 220-224, 1992.
[0034446]25034.Kivirikko, S.; Heinamaki, P.; Rehn, M.; Honkanen, N.; Myers, J. C.; Pihlajaniemi, T.: Primary structure of the alpha-1 chain of human type XV collagen and exon-intron organization in the 3-prime region of the corresponding gene. J. Biol. Chem. 269: 4773-4779, 1994.
[0034447]25035.Muragaki, Y.; Abe, N.; Ninomiya, Y.; Olsen, B. R.; Ooshima, A. : The human alpha-1(XV) collagen chain contains a large amino-terminal non-triple helical domain with a tandem repeat structure and homology to alpha-1(XVIII) collagen. J. Biol. Chem. 269: 4042-4046, 1994.
[0034448]25036.Myers, J. C.; Dion, A. S.; Abraham, V.; Amenta, P. S.: Type XV collagen exhibits a widespread distribution in human tissues but a distinct localization in basement membrane zones. Cell Tissue Res. 286: 493-505, 1996.
[0034449]25037.Myers, J. C.; Kivirikko, S.; Gordon, M. K.; Dion, A. S.; Pihlajaniemi, T.: Identification of a previously unknown human collagen chain, alpha-1(XV), characterized by extensive interruptions in the triple-helical region. Proc. Nat. Acad. Sci. 89: 10144-10148, 1992.
[0034450]25038.Ramchandran, R.; Dhanabal, M.; Volk, R.; Waterman, M. J. F.; Segal, M.; Lu, H.; Knebelmann, B.; Sukhatme, V. P.: Antiangiogenic activity of restin, NC10 domain of human collagen XV: comparison to endostatin. Biochem. Biophys. Res. Commun. 255: 735-739, 1999.
[0034451]25039.Rehn, M.; Hintikka, E.; Pihlajaniemi, T.: Primary structure of the alpha 1 chain of mouse type XVIII collagen, partial structure of the corresponding gene, and comparison of the alpha 1(XVIII) chain with its homologue, the alpha 1(XV) collagen chain. J. Biol. Chem. 269: 13929-13935, 1994.
[0034452]25040.Sasaki, T.; Larsson, H.; Tisi, D.; Claesson-Welsh, L.; Hohenester, E.; Timpl, R.: Endostatins derived from collagens XV and XVIII differ in structural and binding properties, tissue distribution and anti-angiogenic activity. J. Molec. Biol. 301: 1179-1190, 2000.
[0034453]25041.Pan, T.-C.; Zhang, R.-Z.; Mattei, M.-G.; Timpl, R.; Chu, M.-L. : Cloning and chromosomal location of human alpha-1(XVI) collagen. Proc. Nat. Acad. Sci. 89: 6565-6569, 1992.
[0034454]25042.Yamaguchi, N.; Kimura, S.; McBride, O. W.; Hori, H.; Yamada, Y.; Kanamori, T.; Yamakoshi, H.; Nagai, Y.: Molecular cloning and partial characterization of a novel collagen chain, alpha-1(XVI), consisting of repetitive collagenous domains and cysteine-containing non-collagenous segments. J. Biochem. 112: 856-863, 1992.
[0034455]25043.O'Reilly, M. S.; Boehm, T.; Shing, Y.; Fukai, N.; Vasios, G.; Lane, W. S.; Flynn, E.; Birkhead, J. R.; Olsen, B. R.; Folkman, J.: Endostatin: an endogenous inhibitor of angiogenesis and tumor growth. Cell 88: 277-285, 1997.
[0034456]25044.Sakai, L. Y.; Keene, D. R.; Glanville, R. W.; Bachinger, H. P. : Purification and partial characterization of fibrillin, a cysteine-rich structural component of connective tissue microfibrils. J. Biol. Chem. 266: 14763-14770, 1991.
[0034457]25045.Eiberg, H.; Bisgaard, M. L.; Mohr, J.: Linkage between alpha-1-B-glycoprotein (A1BG) and Lutheran (LU) red blood group system: assignment to chromosome 19: new genetic variants of A1BG. Clin. Genet. 36: 415-418, 1989.
[0034458]25046.Eiberg, H.; Nielsen, L. S.; Gahne, B.; Juneja, R. K.; Mohr, J. : Exclusion data for the alpha-1-B glycoprotein (A1BG) polymorphism. (Abstract) Cytogenet. Cell Genet. 51: 994 only, 1989.
[0034459]25047.Gahne, B.; Juneja, R. K.; Stratil, A.: Genetic polymorphism of human plasma alpha-1-B-glycoprotein: phenotyping by immunoblotting or by a simple method of 2-D electrophoresis. Hum. Genet. 76: 111-115, 1987.
[0034460]25048.Ishioka, N.; Takahashi, N.; Putnam, F. W.: Amino acid sequence of human plasma alpha-1B-glycoprotein: homology to the immunoglobulin supergene family. Proc. Nat. Acad. Sci. 83: 2363-2367, 1986.
[0034461]25049.Juneja, R. K.; Weitkamp, L. R.; Stratil, A.; Gahne, B.; Guttormsen, S. A.: Further studies of the plasma alpha-1-B-glycoprotein polymorphism: two new alleles and allele frequencies in Caucasians and in American blacks. Hum. Hered. 38: 267-272, 1988.
[0034462]25050.Anderson, L.; Anderson, N. G.: High resolution two-dimensional electrophoresis of human plasma proteins. Proc. Nat. Acad. Sci. 74: 5421-5425, 1977.
[0034463]25051.Boutin, B.; Feng, S. H.; Arnaud, P.: The genetic polymorphism of alpha(2)-HS glycoprotein: study by ultrathin-layer isoelectric focusing and immunoblot. Am. J. Hum. Genet. 37: 1098-1105, 1985.
[0034464]25052.Cox, D. W.; Andrews, B. J.: Silver stain immunofixation for alpha-2-HS-glycoprotein: a new method for detection of protein heterogeneity.In: Stathakos, D.: Electrophoresis '82. Berlin: Walter de Gruyter (pub.) 1983. Pp. 243-247.
[0034465]25053.Cox, D. W.; Andrews, B. J.; Wills, D. E.: Genetic polymorphism of alpha-2-HSglycoprotein. Am. J. Hum. Genet. 38: 699-706, 1986.
[0034466]25054.Cox, D. W.; Francke, U.; Allderdice, P. W.; McAlpine, P. J.: Gene mapping of human serum proteins using hepatoma hybrids and human chromosome deletions and duplications. Genetics 107 (suppl.): s22-s23, 1984.
[0034467]25055.Eiberg, H.; Mohr, J.; Nielsen, L. S.: A2HS: new methods of phenotyping and analysis of linkage relations: assignment to chromosome 3. (Abstract) Cytogenet. Cell Genet. 37: 461 only, 1984.
[0034468]25056.Gejyo, F.; Chang, J.-L.; Burgi, W.; Schmid, K.; Offner, G. D.; Troxler, R. F.; Van Halbeek, H.; Dorland, L.; Gerwig, G. J.; Vliegenthart, J. F. G.: Characterization of the B-chain of human plasma alpha(2)HS-glycoprotein: the complete amino acid sequence and primary structure of its heteroglycan. J. Biol. Chem. 258: 4966-4971, 1983.
[0034469]25057.Jahnen-Dechent, W.: Personal Communication. Meinz, Germany 7/22/1998.
[0034470]25058.Jahnen-Dechent, W.; Schinke, T.; Trindl, A.; Muller-Esterl, W.; Sablitzky, F.; Kaiser, S.; Blessing, M.: Cloning and targeted deletion of the mouse fetuin gene. J. Biol. Chem. 272: 31496-31503, 1997.
[0034471]25059.Lee, C.-C.; Bowman, B. H.; Yang, F.: Human alpha-2-HS-glycoprotein: the A and B chains with a connecting sequence are encoded by a single mRNA transcript. Proc. Nat. Acad. Sci. 84: 4403-4407, 1987.
[0034472]25060.Fajans, S. S.; Bell, G. I.; Polonsky, K. S.: Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. New Eng. J. Med. 345: 971-980, 2001.
[0034473]25061.Lindner, T.; Gragnoli, C.; Furuta, H.; Cockburn, B. N.; Petzold, C.; Rietzsch, H.; Weiss, U.; Schulze, J.; Bell, G. I.: Hepatic function in a family with a nonsense mutation (R154X) in the hepatocyte nuclear factor-4-alpha/MODY1 gene. J. Clin. Invest. 100: 1400-1405, 1997.
[0034474]25062.Moller, A. M.; Dalgaard, L. T.; Ambye, L.; Hansen, L.; Schmitz, O.; Hansen, T.; Pedersen, O.: A novel Phe75fsdelT mutation in the hepatocyte nuclear factor-4-alpha gene in a Danish pedigree with maturity-onset diabetes of the young. J. Clin. Endocr. Metab. 84: 367-369, 1999.
[0034475]25063.Thomas, H.; Jaschkowitz, K.; Bulman, M.; Frayling, T. M.; Mitchell, S. M. S.; Roosen, S.; Lingott-Frieg, A.; Tack, C. J.; Ellard, S.; Ryffel, G. U.; Hattersley, A. T.: A distant upstream promoter of the HNF-4-alpha gene connects the transcription factors involved in maturity-onset diabetes of the young. Hum. Molec. Genet. 10: 2089-2097, 2001.
[0034476]25064.Froguel, P.; Vaxillaire, M.; Sun, F.; Velho, G.; Zouali, H.; Butel, M. O.; Lesage, S.; Vionnet, N.; Clement, K.; Fougerousse, F.; Tanizawa, Y.; Weissenbach, J.; Beckmann, J. S.; Lathrop, G. M.; Passa, P.; Permutt, M. A.; Cohen, D.: Close linkage of glucokinase locus on chromosome 7p to earlyonset non-insulin-dependent diabetes mellitus. Nature 356: 162-164, 1992.
[0034477]25065.Vionnet, N.; Stoffel, M.; Takeda, J.; Yasuda, K.; Bell, G. I.; Zouali, H.; Lesage, S.; Velho, G.; Iris, F.; Passa, P.; Froguel, P.; Cohen, D.: Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus. Nature 356: 721-722, 1992.
[0034478]25066.Dunger, D. B.; Ong, K. K. L.; Huxtable, S. J.; Sherriff, A.; Woods, K. A.; Ahmed, M. L.; Golding, J.; Pembrey, M. E.; Ring, S.; ALSPAC Study Team; Bennett, S. T.; Todd, J. A.: Association of the INS VNTR with size at birth. Nature Genet. 19: 98-100, 1998.
[0034479]25067.Joseph, L. J.; Le Beau, M. M.; Jamieson, G. A., Jr.; Acharya, S.; Shows, T. B.; Rowley, J. D.; Sukhatme, V. P.: Molecular cloning, sequencing, and mapping of EGR2, a human early growth response gene encoding a protein with 'zinc-binding finger' structure. Proc. Nat. Acad. Sci. 85: 7164-7168, 1988.
[0034480]25068.Nagarajan, R.; Svaren, J.; Le, N.; Araki, T.; Watson, M.; Milbrandt, J.: EGR2 mutations in inherited neuropathies dominant-negatively inhibit myelin gene expression. Neuron 30: 355-368, 2001.
[0034481]25069.Timmerman, V.; De Jonghe, P.; Ceuterick, C.; De Vriendt, E.; Lofgren, A.; Nelis, E.; Warner, L. E.; Lupski, J. R.; Martin, J.-J.; Van Broeckhoven, C.: Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype. Neurology 52: 1827-1832, 1999.
[0034482]25070.Warner, L. E.; Mancias, P.; Butler, I.; Lupski, J. R.: Mutation in the early growth response 2 (EGR2) transcription factor associated with recessive congenital hypomyelinating neuropathy (CHN). (Abstract) Am. J. Hum. Genet. 61 (suppl.): A350 only, 1997.
[0034483]25071.Warner, L. E.; Mancias, P.; Butler, I. J.; McDonald, C. M.; Keppen, L.; Koob, K. G.; Lupski, J. R.: Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nature Genet. 18: 382-384, 1998.
[0034484]25072.Warner, L. E.; Svaren, J.; Milbrandt, J.; Lupski, J. R.: Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies. Hum. Molec. Genet. 8: 1245-1251, 1999.
[0034485]25073.Wu, J.; Joseph, L.; Sukhatme, V. P.; Kidd, K. K.: A HindIII polymorphism identified by the human early growth response gene 2 (EGR2) on chromosome 10. Nucleic Acids Res. 16: 11855, 1988.
[0034486]25074.Wu, J.; Joseph, L.; Sukhatme, V. P.; Kidd, K. K.: A HindIII polymorphism identified by the human early growth response gene 2 (EGR2) on chromosome 10. Nucleic Acids Res. 16: 11855, 1988.
[0034487]25075.Kaneda, Y.; Hayes, H.; Uchida, T.; Yoshida, M. C.; Okada, Y.: Regional assignment of five genes on human chromosome 19. Chromosoma 95: 8-12, 1987.
[0034488]25076.Boyle, J. M.; Hey, Y.; Fox, M.: Human ecto-5-prime nucleotidase maps to chromosome 6q14-q21. (Abstract) Cytogenet. Cell Genet. 51: 968 only, 1989.
[0034489]25077.Boyle, J. M.; Hey, Y.; Geurts van Kessel, A.; Fox, M.: Assignment of ecto-5-primenucleotidase to human chromosome 6. Hum. Genet. 81: 88-92, 1988.
[0034490]25078.Misumi, Y.; Ogata, S.; Ohkubo, K.; Hirose, S.; Ikehara, Y.: Primary structure of human placental 5-prime-nucleotidase and identification of the glycolipid anchor in the mature form. Europ. J. Biochem. 191: 563-569, 1990.
[0034491]25079.Monreal, A. W.; Ferguson, B. M.; Headon, D. J.; Street, S. L.; Overbeek, P. A.; Zonana, J.: Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. Nature Genet. 22: 366-369, 1999.
[0034492]25080.Schrijver, I.; Liu, W.; Brenn, T.; Furthmayr, H.; Francke, U. : Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes. Am. J. Hum. Genet. 65: 1007-1020, 1999.
[0034493]25081.Schrijver, I.; Liu, W.; Francke, U.: The pathogenicity of the Pro1148-to-ala substitution in the FBN1 gene: causing or predisposing to Marfan syndrome and aortic aneurysm, or clinically innocent? Hum. Genet. 99: 607-611, 1997.
[0034494]25082.Schrijver, I.; Liu, W.; Odom, R.; Brenn, T.; Oefner, P.; Furthmayr, H.; Francke, U.: Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes. Am. J. Hum. Genet. 71: 223-237, 2002.
[0034495]25083.Siracusa, L. D.; McGrath, R.; Ma, Q.; Moskow, J. J.; Manne, J.; Christner, P. J.; Buchberg, A. M.; Jimenez, S. A.: A tandem duplication within the fibrillin 1 gene is associated with the mouse tight skin mutation. Genome Res. 6: 300-313, 1996.
[0034496]25084.Sood, S.; Eldadah, Z. A.; Krause, W. L.; McIntosh, I.; Dietz, H. C.: Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome. Nature Genet. 12: 209-211, 1996.
[0034497]25085.Stahl-Hallengren, C.; Ukkonen, T.; Kainulainen, K.; Kristofersson, U.; Saxne, T.; Tornqvist, K.; Peltonen, L.: An extra cysteine in one of the non-calcium-binding epidermal growth factorlike motifs of the FBN1 polypeptide is connected to a novel variant of Marfan syndrome. J. Clin. Invest. 94: 709-713, 1994.
[0034498]25086.Tiecke, F.; Katzke, S.; Booms, P.; Robinson, P. N.; Neumann, L.; Godfrey, M.; Mathews, K. R.; Scheuner, M.; Hinkel, G. K.; Brenner, R. E.; Hovels-Gurich, H. H.; Hagemeier, C.; Fuchs, J.; Skovby, F.; Rosenberg, T.: Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40. Europ. J. Hum. Genet. 9: 13-21, 2001.
[0034499]25087.Trask, T. M.; Ritty, T. M.; Broekelmann, T.; Tisdale, C.; Mecham, R. P.: N-terminal domains of fibrillin 1 and fibrillin 2 direct the formation of homodimers: a possible first step in microfibril assembly. Biochem. J. 340: 693-701, 1999.
[0034500]25088.Tynan, K.; Comeau, K.; Pearson, M.; Wilgenbus, P.; Levitt, D.; Gasner, C.; Berg, M. A.; Miller, D. C.; Francke, U.: Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains. Hum. Molec. Genet. 2: 1813-1821, 1993.
[0034501]25089.Velinov, M.; Sarfarazi, M.; Young, K.; Hodes, M. E.; Conneally, P. M.; Jackson, C. E.; Tsipouras, P.: Limb-girdle muscular dystrophy is closely linked to the fibrillin locus on chromosome 15. Connect. Tissue Res. 29: 13-21, 1993.
[0034502]25090.Wang, M.; Mathews, K. R.; Imaizumi, K.; Beiraghi, S.; Blumberg, B.; Scheuner, M.; Graham, J. M., Jr.; Godfrey, M.: P1148A in fibrillin-1 is not a mutation anymore. (Letter) Nature Genet. 15: 12 only, 1997.
[0034503]25091.Wang, M.; Wang, J.-Y.; Cisler, J.; Imaizumi, K.; Burton, B. K.; Jones, M. C.; Lamberti, J. J.; Godfrey, M.: Three novel fibrillin mutations in exons 25 and 27: classic versus neonatal Marfan syndrome. Hum. Mutat. 9: 359-362, 1997.
[0034504]25092.Watanabe, Y.; Yano, S.; Koga, Y.; Yukizane, S.; Nishiyori, A.; Yoshino, M.; Kato, H.; Ogata, T.; Adachi, M.: P1148A in fibrillin-1 is not a mutation leading to Shprintzen-Goldberg syndrome. (Letter) Hum. Mutat. 10: 326-327, 1997.
[0034505]25093.Whiteman, P.; Smallridge, R. S.; Knott, V.; Cordle, J. J.; Downing, A. K.; Handford, P. A.: A G1127S change in calcium-binding epidermal growth factor-like domain 13 of human fibrillin-1 causes short range conformational effects. J. Biol. Chem. 276: 17156-17162, 2001.
[0034506]25094.Alving, B. M.; Henschen, A. H.: Fibrinogen Giessen I: a congenital homozygously expressed dysfibrinogenemia with A-alpha arg-to-his substitution. Am. J. Hemat. 25: 479-482, 1987.
[0034507]25095.Arocha-Pinango, C. L.; Rodriguez, S.; Nagy, H.; Perez Requejo, J. L.: Fibrinogen Lima: a new dysfibrinogenaemia with a high-molecular weight alpha-chain and effective polymerization. Blood Coagul. Fibrinolysis 1: 561-565, 1990.
[0034508]25096.Aschbacher, A.; Buetow, K.; Chung, D.; Walsh, S.; Murray, J.: Linkage disequilibrium of RFLP's associated with alpha, beta, and gamma fibrinogen predict gene order on chromosome 4. (Abstract) Am. J. Hum. Genet. 37: A186 only, 1985.
[0034509]25097.Asl, L. H.; Liepnieks, J. J.; Uemichi, T.; Rebibou, J.-M.; Justrabo, E.; Droz, D.; Mousson, C.; Chalopin, J.-M.; Benson, M. D.; Delpech, M.; Grateau, G.: Renal amyloidosis with a frame shift mutation in fibrinogen A(alpha)-chain gene producing a novel amyloid protein. Blood 90: 4799-4805, 1997.
[0034510]25098.Asselta, R.; Duga, S.; Spena, S.; Santagostino, E.; Peyvandi, F.; Piseddu, G.; Targhetta, R.; Malcovati, M.; Mannucci, P. M.; Tenchini, M. L.: Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen A-alpha-chain gene are not associated with the decay of the mutant mRNAs. Blood 98: 3685-3692, 2001.
[0034511]25099.Aznar, J.; Fernandez-Pavon, A.; Reganon, E.; Vila, V.; Orellana, F.: Fibrinogen Valencia--a new case of congenital dysfibrinogenemia. Thromb. Diath. Haemorrh. 32: 564-577, 1974.
[0034512]25100.Barthels, M.; Sandvoss, G.: Fibrinogen Hannover, another abnormal fibrinogen. Blut 34: 99-106, 1977.
[0034513]25101.Beck, E. A.; Charache, P.; Jackson, D. P.: A new inherited coagulation disorder caused by an abnormal fibrinogen ('fibrinogen Baltimore'). Nature 208: 143-145, 1965.
[0034514]25102.Beck, E. A.; Shainoff, J. R.; Vogel, A.; Jackson, D. P.: Functional evaluation of an inherited abnormal fibrinogen: fibrinogen 'Baltimore.'. J. Clin. Invest. 50: 1874-1884, 1971.
[0034515]25103.Benson, M. D.; Liepnieks, J.; Uemichi, T.; Wheeler, G.; Correa, R.: Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain. Nature Genet. 3: 252-255, 1993.
[0034516]25104.Blomback, B.; Blomback, M.: Molecular defects and variants of fibrinogen. Nouv. Rev. Franc. Hemat. 10: 671-678, 1970.
[0034517]25105.Blomback, B.; Hessel, B.; Fields, R.; Procyk, R.: Fibrinogen Aarhus: an abnormal fibrinogen with A alpha 19 arg-to-gly substitution.In: Mosesson, M. W.; Amrani, D. L.; Siebenlist, K. R.; Di Orio, J. P. : Fibrinogen 3: Biochemistry, Biological Functions, Gene Regulation and Expression.. Amsterdam: Elsevier (pub.) 1988. Pp. 263-266.
[0034518]25106.Ballo, R.; Beighton, P. H.; Ramesar, R. S.: Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene. Am. J. Med. Genet. 80: 6-11, 1998.
[0034519]25107.Chan, E. F.; Gat, U.; McNiff, J. M.; Fuchs, E.: A common human skin tumour is caused by activating mutations in beta-catenin. Nature Genet. 21: 410-413, 1999.
[0034520]25108.Oh, S. P.; Kamagata, Y.; Muragaki, Y.; Timmons, S.; Ooshima, A.; Olsen, B. R.: Isolation and sequencing of cDNAs for proteins with multiple domains of Gly-X-Y repeats identify a novel family of collagenous proteins. Proc. Nat. Acad. Sci. 91: 4229-4233, 1994.
[0034521]25109.Oh, S. P.; Warman, M. L.; Seldin, M. F.; Cheng, S.-D.; Knoll, J. H. M.; Timmons, S.; Olsen, B. R.: Cloning of cDNA and genomic DNA encoding human type XVIII collagen and localization of the alpha-1(XVIII) collagen gene to mouse chromosome 10 and human chromosome 21. Genomics 19: 494-499, 1994.
[0034522]25110.Rehn, M.; Hintikka, E.; Pihlajaniemi, T.: Characterization of the mouse gene for the alpha-1 chain of type XVIII collagen (Col18a1) reveals that the three variant N-terminal polypeptide forms are transcribed from two widely separated promoters. Genomics 32: 436-446, 1996.
[0034523]25111.Rehn, M.; Pihlajaniemi, T.: Alpha-1(XVIII), a collagen chain with frequent interruptions in the collagenous sequence, a distinct tissue distribution, and homology with type XV collagen. Proc. Nat. Acad. Sci. 91: 4234-4238, 1994.
[0034524]25112.Saarela, J.; Ylikarppa, R.; Rehn, M.; Purmonen, S.; Pihlajaniemi, T.: Complete primary structure of two variant forms of human type XVIII collagen and tissue-specific differences in the expression of the corresponding transcripts. Matrix Biol. 16: 319-328, 1998.
[0034525]25113.Horelli-Kuitunen, N.; Kvist, A.-P.; Helaakoski, T.; Kivirikko, K.; Pihlajaniemi, T.; Palotie, A.: The order and transcriptional orientation of the human COL13A1 and P4HA genes on chromosome 10 long arm determined by high-resolution FISH. Genomics 46: 299-302, 1997.
[0034526]25114.Pajunen, L.; Tamminen, M.; Solomon, E.; Pihlajaniemi, T.: Assignment of the gene coding for the alpha 1 chain of collagen type XIII (COL13A1) to human chromosome region 10q11-qter. Cytogenet. Cell Genet. 52: 190-193, 1989.
[0034527]25115.Shows, T. B.; Tikka, L.; Byers, M. G.; Eddy, R. L.; Haley, L. L.; Henry, W. M.; Prockop, D. J.; Tryggvason, K.: Assignment of the human collagen alpha-1(XIII) chain gene (COL13A1) to the q22 region of chromosome 10. Genomics 5: 128-133, 1989.
[0034528]25116.Tikka, L.; Pihlajaniemi, T.; Henttu, P.; Prockop, D. J.; Tryggvason, K.: Gene structure for the alpha-1 chain of a human short-chain collagen (type XIII) with alternatively spliced transcripts and translation termination codon at the 5-prime end of the last exon. Proc. Nat. Acad. Sci. 85: 7491-7495, 1988.
[0034529]25117.Cunningham, B. A.; Hemperly, J. J.; Murray, B. A.; Prediger, E. A.; Brackenbury, R.; Edelman, G. M.: Neural cell adhesion molecule: structure, immunoglobulin-like domains, cell surface modulation, and alternative RNA splicing. Science 236: 799-806, 1987.
[0034530]25118.D'Eustachio, P.; Davisson, M. T.: Resolution of the staggerer (sg) mutation from the neural cell adhesion molecule locus (Ncam) on mouse chromosome 9. Mammalian Genome 4: 278-280, 1993.
[0034531]25119.D'Eustachio, P.; Owens, G. C.; Edelman, G. M.; Cunningham, B. A. : Chromosomal location of the gene encoding the neural cell adhesion molecule (N-CAM) in the mouse. Proc. Nat. Acad. Sci. 82: 7631-7635, 1985.
[0034532]25120.Lin, D. M.; Fetter, R. D.; Kopczynski, C.; Grenningloh, G.; Goodman, C. S.: Genetic analysis of fasciclin II in Drosophila: defasciculation, refasciculation, and altered fasciculation. Neuron 13: 1055-1069, 1994.
[0034533]25121.Altare, F.; Jouanguy, E.; Lamhamedi-Cherradi, S.; Fondaneche, M.-C.; Fizame, C.; Ribierre, F.; Merlin, G.; Dembic, Z.; Schreiber, R.; Lisowska-Grospierre, B.; Fischer, A.; Seboun, E.; Casanova, J.-L.: A causative relationship between mutant IFNgR1 alleles and impaired cellular response to IFN-gamma in a compound heterozygous child. (Letter) Am. J. Hum. Genet. 62: 723-726, 1998.
[0034534]25122.Dalton, D. K.; Pitts-Meek, S.; Keshav, S.; Figari, I. S.; Bradley, A.; Stewart, T. A.: Multiple defects of immune cell function in mice with disrupted interferon-gamma genes. Science 259: 1739-1742, 1993.
[0034535]25123.Dessein, A. J.; Hillaire, D.; Elwali, N. E. M. A.; Marquet, S.; Mohamed-Ali, Q.; Mirghani, A.; Henri, S.; Abdelhameed, A. A.; Saeed, O. K.; Magzoub, M. M. A.; Abel, L.: Severe hepatic fibrosis in Schistosoma mansoni infection is controlled by a major locus that is closely linked to the interferon-gamma receptor gene. Am. J. Hum. Genet. 65: 709-721, 1999.
[0034536]25124.Fellous, M.: Personal Communication. Paris, France 10/24/1986.
[0034537]25125.Fellous, M.; Couillin, P.; Rosa, F.; Metezeau, P.; Foubert, C.; Gross, M. S.; Frezal, J.; Van Cong, N.: Receptor for human gamma interferon is specified by human chromosome 18. (Abstract) Cytogenet. Cell Genet. 40: 627-628, 1985.
[0034538]25126.Jouanguy, E.; Altare, F.; Lamhamedi, S.; Revy, P.; Emile, J.-F.; Newport, M.; Levin, M.; Blanche, S.; Seboun, E.; Fischer, A.; Casanova, J.-L.: Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guerin infection. New Eng. J. Med. 335: 1956-1961, 1996.
[0034539]25127.Jouanguy, E.; Dupuis, S.; Pallier, A.; Doffinger, R.; Fondaneche, M.-C.; Fieschi, C.; Lamhamedi-Cherradi, S.; Altare, F.; Emile, J.-F.; Lutz, P.; Bordigoni, P.; Cokugras, H.; Akcakaya, N.; Landman-Parker, J.; Donnadieu, J.; Camcioglu, Y.; Casanova, J.-L.: In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma. J. Clin. Invest. 105: 1429-1436, 2000.
[0034540]25128.Jouanguy, E.; Lamhamedi-Cherradi, S.; Lammas, D.; Dorman, S. E.; Fondaneche, M.-C.; Dupuis, S.; Doffinger, R.; Altare, F.; Girdlestone, J.; Emile, J.-F.; Ducoulombier, H.; Edgar, D.; and 10 others: A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection. Nature Genet. 21: 370-378, 1999.
[0034541]25129.Kaplan, D. H.; Shankaran, V.; Dighe, A. S.; Stockert, E.; Aguet, M.; Old, L. J.; Schreiber, R. D.: Demonstration of an interferon gamma-dependent tumor surveillance system in immunocompetent mice. Proc. Nat. Acad. Sci. 95: 7556-7561, 1998.
[0034542]25130.Le Coniat, M.; Alcaide-Loridan, C.; Fellous, M.; Berger, R.: Human interferon gamma receptor 1 (IFNGR1) gene maps to chromosome region 6q23-6q24. Hum. Genet. 84: 92-94, 1989.
[0034543]25131.Lekstrom-Himes, J. A.; Gallin, J. I.: Immunodeficiency diseases caused by defects in phagocytes. New Eng. J. Med. 343: 1703-1714, 2000.
[0034544]25132.Levin, M.; Newport, M. J.; D'Souza, S.; Kalabalikis, P.; Brown, I. N.; Lenicker, H. M.; Agius, P. V.; Davies, E. G.; Thrasher, A.; Klein, N.; Blackwell, J. M.: Familial disseminated atypical mycobacterial infection in childhood: a human mycobacterial susceptibility gene? Lancet 345: 79-83, 1995.
[0034545]25133.Mariano, T. M.; Kozak, C. A.; Langer, J. A.; Pestka, S.: The mouse immune interferon receptor gene is located on chromosome 10. J. Biol. Chem. 262: 5812-5814, 1987.
[0034546]25134.Deloukas, P.; Schuler, G. D.; Gyapay, G.; Beasley, E. M.; Soderlund, C.; Rodriguez-Tome, P.; Hui, L.; Matise, T. C.; McKusick, K. B.; Beckmann, J. S.; Bentolila, S.; Bihoreau, M.-T.; and 53 others: A physical map of 30,000 human genes. Science 282: 744-746, 1998.
[0034547]25135.Manser, E.; Leung, T.; Salihuddin, H.; Tan, L.; Lim, L.: A non-receptor tyrosine kinase that inhibits the GTPase activity of p21cdc42. Nature 363: 364-367, 1993.
[0034548]25136.Wu, W. J.; Erickson, J. W.; Lin, R.; Cerione, R. A.: The gamma-subunit of the coatomer complex binds Cdc42 to mediate transformation. Nature 405: 800-804, 2000.
[0034549]25137.Basu, S.; Binder, R. J.; Ramalingam, T.; Srivastava, P. K.: CD91 is a common receptor for heat shock proteins gp96, hsp90, hsp70, and calreticulin. Immunity 14: 303-313, 2001.
[0034550]25138.Beisiegel, U.; Weber, W.; Ihrke, G.; Herz, J.; Stanley, K. K.: The LDL-receptor-related protein, LRP, is an apolipoprotein E-binding protein. Nature 341: 162-164, 1989.
[0034551]25139.Binder, R. J.; Han, D. K.; Srivastava, P. K.: CD91: a receptor for heat shock protein gp96. Nature Immun. 1: 151-155, 2000.
[0034552]25140.Forus, A.; Maelandsmo, G. M.; Fodstad, Y.; Myklebost, O.: The genes for the alpha-2-macroglobulin receptor/LDL receptor-related protein and GLI are located within a chromosomal segment of about 300 kilobases and are coamplified in a rhabdomyosarcoma cell line. (Abstract) Cytogenet. Cell Genet. 58: 1977 only, 1991.
[0034553]25141.Forus, A.; Myklebost, O.: A physical map of a 1.3-Mb region on the long arm of chromosome 12, spanning the GLI and LRP loci. Genomics 14: 117-120, 1992.
[0034554]25142.Hilliker, C.; Van Leuven, F.; Van Den Berghe, H.: Assignment of the gene coding for the alpha(2)-macroglobulin receptor to mouse chromosome 15 and to human chromosome 12q13-q14 by isotopic and nonisotopic in situ hybridization. Genomics 13: 472-474, 1992.
[0034555]25143.Kristensen, T.; Moestrup, S. K.; Gliemann, J.; Bendtsen, L.; Sand, O.; Sottrup-Jensen, L.: Evidence that the newly cloned low-density-lipoprotein receptor related protein (LRP) is the alpha-2-macroglobulin receptor. FEBS Lett. 276: 151-155, 1990.
[0034556]25144.Lendon, C. L.; Talbot, C. J.; Craddock, N. J.; Han, S. W.; Wragg, M.; Morris, J. C.; Goate, A. M.: Genetic association studies between dementia of the Alzheimer's type and three receptors for apolipoprotein E in a Caucasian population. Neurosci. Lett. 222: 187-190, 1997.
[0034557]25145.Myklebost, O.; Arheden, K.; Rogne, S.; Geurts van Kessel, A.; Mandahl, N.; Herz, J.; Stanley, K.; Heim, S.; Mitelman, F.: The gene for the human putative apoE receptor is on chromosome 12 in the segment q13-14. Genomics 5: 65-69, 1989.
[0034558]25146.Pericak-Vance, M. A.; Bass, M. P.; Yamaoka, L. H.; Gaskell, P. C.; Scott, W. K.; Terwedow, H. A.; Menold, M. M.; Conneally, P. M.; Small, G. W.; Vance, J. M.; Saunders, A. M.; Roses, A. D.; Haines, J. L.: Complete genomic screen in late-onset familial Alzheimer disease: evidence for a new locus on chromosome 12. J.A.M.A. 278: 1237-1241, 1997.
[0034559]25147.Scott, W. K.; Yamaoka, L. H.; Bass, M. P.; Gaskell, P. C.; Conneally, P. M.; Small, G. W.; Farrer, L. A.; Auerbach, S. A.; Saunders, A. M.; Roses, A. D.; Haines, J. L.; Pericak-Vance, M. A.: No genetic association between the LRP receptor and sporadic or late-onset familial Alzheimer disease. Neurogenetics 1: 179-183, 1998.
[0034560]25148.Strickland, D. K.; Ashcom, J. D.; Williams, S.; Burgess, W. H.; Migliorini, M.; Argraves, W. S.: Sequence identity between the alpha-2-macroglobulin receptor and low density lipoprotein receptor-related protein suggests that this molecule is a multifunctional receptor. J. Biol. Chem. 265: 17401-17404, 1990.
[0034561]25149.Yochem, J.; Greenwald, I.: A gene for a low density lipoprotein receptor-related protein in the nematode Caenorhabditis elegans. Proc. Nat. Acad. Sci. 90: 4572-4576, 1993.
[0034562]25150.Ladias, J. A. A.; Karathanasis, S. K.: Regulation of the apolipoprotein AI gene by ARP-1, a novel member of the steroid receptor superfamily. Science 251: 561-565, 1991.
[0034563]25151.Modi, W. S.; Seuanez, H.; Mietus-Snyder, M.; O'Brien, S. J.; Karathanasis, S. K.: Chromosomal localization of the ARP-1 gene to 15q26. (Abstract) Cytogenet. Cell Genet. 58: 1995 only, 1991.
[0034564]25152.Pereira, F. A.; Qiu, Y.; Zhou, G.; Tsai, M.-J.; Tsai, S. Y.: The orphan nuclear receptor COUP-TFII is required for angiogenesis and heart development. Genes Dev. 13: 1037-1049, 1999.
[0034565]25153.Widom, R. L.; Ladias, J. A. A.; Kouidou, S.; Karathanasis, S. K. : Synergistic interactions between transcription factors control expression of the apolipoprotein AI gene in liver cells. Molec. Cell. Biol. 11: 677-687, 1991.
[0034566]25154.Agre, P.; Smith, B. L.; Baumgarten, R.; Preston, G. M.; Pressman, E.; Wilson, P.; Illum, N.; Anstee, D. J.; Lande, M. B.; Zeidel, M. L.: Human red cell aquaporin CHIP. II. Expression during normal fetal development and in a novel form of congenital dyserythropoietic anemia. J. Clin. Invest. 94: 1050-1058, 1994.
[0034567]25155.Ikeda, H.; Yamaguchi, M.; Sugai, S.; Aze, Y.; Narumiya, S.; Kakizuka, A.: Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo. Nature Genet. 13: 196-202, 1996.
[0034568]25156.Santisteban, I.; Arredondo-Vega, F. X.; Kelly, S.; Mary, A.; Fischer, A.; Hummell, D. S.; Lawton, A.; Sorensen, R. U.; Stiehm, E. R.; Uribe, L.; Weinberg, K.; Hershfield, M. S.: Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease: contribution of genotype to phenotype. J. Clin. Invest. 92: 2291-2302, 1993. 100. Schmalstieg, F. C.; Mills, G. C.; Tsuda, H.; Goldman, A. S.: Severe combined immunodeficiency in a child with a healthy adenosine deaminase deficient mother. Pediat. Res. 17: 935-940, 1983. 101. Schrader, W. P.; Pollara, B.; Meuwissen, H. J.: Characterization of the residual adenosine deaminating activity in the spleen of a patient with combined immunodeficiency disease and adenosine deaminase deficiency. Proc. Nat. Acad. Sci. 75: 446-450, 1978. 102. Scott, C. R.; Chen, S.-H.; Giblett, E. R.: Deletion of the carrier state in combined immunodeficiency disease associated with deaminase deficiency. J. Clin. Invest. 53: 1194-1196, 1974. 103. Shovlin, C. L.; Hughes, J. M. B.; Simmonds, H. A.; Fairbanks, L.; Deacock, S.; Lechler, R.; Roberts, I.; Webster, A. D. B.: Adult presentation of adenosine deaminase deficiency. (Letter) Lancet 341: 1471, 1993. 104. Shovlin, C. L.; Simmonds, H. A.; Fairbanks, L. D.; Deacock, S. J.; Hughes, J. M. B.; Lechler, R. I.; Webster, A. D. B.; Sun, X.-M.; Webb, J. C.; Soutar, A. K.: Adult onset immunodeficiency caused by inherited adenosine deaminase deficiency. J. Immun. 153: 2331-2339, 1994. 105. Spencer, N.; Hopkinson, D. A.; Harris, H.: Adenosine deaminase polymorphism in man. Ann. Hum. Genet. 32: 9-14, 1968. 106. Stephan, V.; Wahn, V.; Le Deist, F.; Dirksen, U.; Broker, B.; Muller-Fleckenstein, I.; Horneff, G.; Schroten, H.; Fischer, A.; de Saint Basile, G.: Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells. New Eng. J. Med. 335: 1563-1567, 1996. 107. Tariverdian, G.; Ritter, H.: Adenosine deaminase polymorphism (EC 3.5.4.4): formal genetics and linkage relations. Humangenetik 7: 176-178, 1969. 108. Tischfield, J. A.; Creagan, R. P.; Nichols, E. A.; Ruddle, F. H.: Assignment of a gene for adenosine deaminase to human chromosome 20. Hum. Hered. 24: 1-11, 1974. 109. Tzall, S.; Ellenbogen, A.; Eng, F.; Hirschhorn, R.: Identification and characterization of nine RFLPs at the adenosine deaminase (ADA) locus. Am. J. Hum. Genet. 44: 864-875, 1989. 110. Umetsu, D. T.; Schlossman, C. M.; Ochs, H. D.; Hershfield, M. S.: Heterogeneity of phenotype in two siblings with adenosine deaminase deficiency. J. Allergy Clin. Immun. 93: 543-550, 1994. 111. Valerio, D.; Dekker, B. M. M.; Duyvesteyn, M. G. C.; van der Voorn, L.; Berkvens, T. M.; van Ormondt, H.; van der Eb, A. J.: One adenosine deaminase allele in a patient with severe combined immunodeficiency contains a point mutation abolishing enzyme activity. EMBO J. 5: 113-119, 1986. 112. Valerio, D.; Duyvesteyn, M. G. C.; Dekker, B. M. M.; Weeda, G.; Berkvens, T. M.; van der Voorn, L.; van Ormondt, H.; van der Eb, A. J.: Adenosine deaminase: characterization and expression of a gene with a remarkable promoter. EMBO J. 4: 437-443, 1985. 113. Valerio, D.; Duyvesteyn, M. G. C.; Meera Khan, P.; Pearson, P. L.; Geurts van Kessel, A.; van Ormondt, H.: Direct assignment of ADA gene to chromosome 20. (Abstract) Cytogenet. Cell Genet. 37: 599, 1984. 114. Valerio, D.; Duyvesteyn, M. G. C.; van Ormondt, H.; Meera Khan, P.; van der Eb, A. J.: Adenosine deaminase (ADA) deficiency in cells derived from humans with severe combined immunodeficiency is due to an aberration of the ADA protein. Nucleic Acids Res. 12: 1015-1024, 1984. 115. Valerio, D.; McIvor, R. S.; Williams, S. R.; Duyvesteyn, M. G. C.; van Ormondt, H.; van der Eb, A. J.; Martin, D. W., Jr.: Cloning of human adenosine deaminase cDNA and expression in mouse cells. Gene 31: 147-153, 1984. 116. Van der Weyden, M. B.; Kelley, W. N.: Adenosine deaminase deficiency in severe combined immunodeficiency: evidence for a posttranslational defect. (Abstract) J. Clin. Invest. 53: 81A-82A, 1974. 117. Wakamiya, M.; Blackburn, M. R.; Jurecic, R.; McArthur, M. J.; Geske, R. S.; Cartwright, J., Jr.; Mitani, K.; Vaishnav, S.; Belmont, J. W.; Kellems, R. E.; Finegold, M. J.; Montgomery, Jr., C. A.; Bradley, A.; Caskey, C. T.: Disruption of the adenosine deaminase gene causes hepatocellular impairment and perinatal lethality in mice. Proc. Nat. Acad. Sci. 92: 3673-3677, 1995. 118. Weitkamp, L. R.: Further data on the genetic linkage relations of the adenosine deaminase locus. Hum. Hered. 21: 351-356, 1971. 119. Weitkamp, L. R.: Genetic linkage relationships of the ADA and 6-PGD loci in 'Humangenetik.' (Letter) Humangenetik 15: 359-360, 1972. 120. Wiginton, D. A.; Adrian, G. S.; Friedman, R. L.; Suttle, D. P.; Hutton, J. J.: Cloning of cDNA sequences of human adenosine deaminase. Proc. Nat. Acad. Sci. 80: 7481-7485, 1983. 121. Wiginton, D. A.; Adrian, G. S.; Hutton, J. J.: Sequence of human adenosine deaminase cDNA including the coding region and a small intron. Nucleic Acids Res. 12: 2439-2446, 1984. 122. Wiginton, D. A.; Hutton, J. J.: Immunoreactive protein in adenosine deaminase deficient human lymphoblast cell lines. J. Biol. Chem. 257: 3211-3217, 1982. 123. Wiginton, D. A.; Kaplan, D. J.; States, J. C.; Akeson, A. L.; Perme, C. M.; Bilyk, I. J.; Vaughn, A. J.; Lattier, D. L.; Hutton, J. J.: Complete sequence and structure of the gene for human adenosine deaminase. Biochemistry 25: 8234-8244, 1986. 124. Yokoyama, S.; Hayashi, T.; Yoshimura, Y.; Irimada, K.; Saito, T.; Akiba, T.; Tsuchiya, S.: Severe combined immunodeficiency disease with adenosine deaminase deficiency. Tohoku J. Exp. Med. 129: 197-202, 1979. 125. Yount, J.; Nichols, P.; Ochs, H. D.; Hammar, S. P.; Scott, C. R.; Chen, S.-H.; Giblett, E. R.; Wedgwood, R. J.: Absence of erythrocyte adenosine deaminase associated with severe combined immunodeficiency. J. Pediat. 84: 173-177, 1974. 126. Ziegler, J. B.; Lee, C. H.; Van Der Weyden, M. B.; Bagnara, A. S.; Beveridge, J.: Severe combined immunodeficiency and adenosine deaminase deficiency: failure of enzyme replacement therapy. Arch. Dis. Child. 55: 452-457, 1980. 127. Ziegler, J. B.; Van Der Weyden, M. B.; Lee, C. H.; Daniel, A. : Prenatal diagnosis for adenosine deaminase deficiency. J. Med. Genet. 18: 154-156, 1981.
[0034569]25157.Dooley, T. P.: Personal Communication. San Antonio, Tex. 7/21/1992.
[0034570]25158.Dooley, T. P.; Weiland, K. L.; Simon, M.: cDNA sequence of human p11 calpactin I light chain. Genomics 13: 866-868, 1992.
[0034571]25159.Harder, T.; Kube, E.; Gerke, V.: Cloning and characterization of the human gene encoding p11: structural similarity to other members of the S-100 gene family. Gene 113: 269-274, 1992.
[0034572]25160.Kube, E.; Weber, K.; Gerke, V.: Primary structure of human, chicken, and Xenopus laevis p11, a cellular ligand of the Src-kinase substrate, annexin II. Gene 102: 255-259, 1991.
[0034573]25161.Okuse, K.; Malik-Hall, M.; Baker, M. D.; Poon, W.-Y. L.; Kong, H.; Chao, M. V.; Wood, J. N.: Annexin II light chain regulates sensory neuron-specific sodium channel expression. Nature 417: 653-656, 2002.
[0034574]25162.Saris, C. J. M.; Kristensen, T.; D'Eustachio, P.; Hicks, L. J.; Noonan, D. J.; Hunter, T.; Tack, B. F.: cDNA sequence and tissue distribution of the mRNA for bovine and murine p11, the S100-related light chain of the protein-tyrosine kinase substrate p36 (calpactin I). J. Biol. Chem. 262: 10663-10671, 1987.
[0034575]25163.Eikenboom, J. C. J.; Vink, T.; Briet, E.; Sixma, J. J.; Reitsma, P. H.: Multiple substitutions in the von Willebrand factor gene that mimic the pseudogene sequence. Proc. Nat. Acad. Sci. 91: 2221-2224, 1994.
[0034576]25164.Gralnick, H. R.; Coller, B. S.: Molecular defects in haemophilia A and von Willebrand's disease. Lancet I: 837-838, 1976.
[0034577]25165.Watanabe, H.; Orii, K. E.; Fukao, T.; Song, X.-Q.; Aoyama, T.; IJlst, L.; Ruiter, J.; Wanders, R. J. A.; Kondo, N.: Molecular basis of very long chain acyl-CoA dehydrogenase deficiency in three Israeli patients: identification of a complex mutant allele with P65L and K247Q mutations, the former being an exonic mutation causing exon 3 skipping. Hum. Mutat. 15: 430-438, 2000.
[0034578]25166.Gavish, H.; dos Santos, C. C.; Buchwald, M.: Generation of a non-functional Fanconi anemia group C protein (FACC) by site-directed in vitro mutagenesis. (Abstract) Am. J. Hum. Genet. 51 (suppl.): A128 only, 1992.
[0034579]25167.Gavish, H.; dos Santos, C. C.; Buchwald, M.: A leu554-to-pro substitution completely abolishes the functional complementing activity of the Fanconi anemia (FACC) protein. Hum. Molec. Genet. 2: 123-126, 1993.
[0034580]25168.Ahmad, W.; Haque, M. F.; Brancolini, V.; Tsou, H. C.; Haque, S.; Lam, H.; Aita, V. M.; Owen, J.; deBlaquiere, M.; Frank, J.; Cserhalmi-Friedman, P. B.; Leask, A.; McGrath, J. A.; Peacocke, M.; Ahmad, M.; Ott, J.; Christiano, A. M.: Alopecia universalis associated with a mutation in the human hairless gene. Science 279: 720-724, 1998.
[0034581]25169.Matthijs, G.; Schollen, E.; Heykants, L.; Grunewald, S.: Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia). Molec. Genet. Metab. 68: 220-226, 1999.
[0034582]25170.Matthijs, G.; Schollen, E.; Pardon, E.; Veiga-Da-Cunha, M.; Jaeken, J.; Cassiman, J.-J.; Van Schaftingen, E.: Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). Nature Genet. 16: 88-92, 1997.
[0034583]25171.Matthijs, G.; Schollen, E.; Pirard, M.; Budarf, M. L.; Van Schaftingen, E.; Cassiman, J.-J.: PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22q13. Genomics 40: 41-47, 1997.
[0034584]25172.Broeks, A.; de Klein, A.; Floore, A. N.; Muijtjens, M.; Kleijer, W. J.; Jaspers, N. G.; van't Veer, L. J.: ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population. Hum. Mutat. 12: 330-337, 1998.
[0034585]25173.Munoz, F.; Lestringant, G.; Sybert, V.; Frydman, M.; Alswaini, A.; Frossard, P. M.; Jorgenson, R.; Zonana, J.: Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder. Am. J. Hum. Genet. 61: 94-100, 1997.
[0034586]25174.Van Schaftingen, E.; Jaeken, J.: Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I. FEBS Lett. 377: 318-320, 1995.
[0034587]25175.Carritt, B.: Somatic cell genetic evidence for the presence of a gene for citrullinemia on human chromosome 9. Cytogenet. Cell Genet. 19: 44-48, 1977.
[0034588]25176.Carritt, B.; Goldfarb, P. S. G.; Hooper, M. L.; Slack, C.: Chromosome assignment of a human gene for argininosuccinate synthetase expression in Chinese hamster-human somatic cell hybrids. Exp. Cell Res. 106: 71-78, 1977.
[0034589]25177.Daiger, S. P.; Hoffman, N. S.; Wildin, R. S.; Su, T.-S.: Multiple, independent restriction site polymorphisms in human DNA detected with a cDNA probe to argininosuccinate synthetase (AS). Am. J. Hum. Genet. 36: 736-749, 1984.
[0034590]25178.Daiger, S. P.; Wildin, R. S.; Su, T.-S.: Polymorphic variants of restriction fragments of human DNA detected with a probe to argininosuccinate synthetase. (Abstract) Am. J. Hum. Genet. 33: 136A only, 1981.
[0034591]25179.Gripp, K. W.; Stolle, C. A.; Celle, L.; McDonald-McGinn, D. M.; Whitaker, L. A.; Zackai, E. H.: TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome. Am. J. Med. Genet. 82: 170-176, 1999.
[0034592]25180.Seto, M. L.; Lee, S. J.; Sze, R. W.; Cunningham, M. L.: Another TWIST on Baller-Gerold syndrome. Am. J. Med. Genet. 104: 323-330, 2001.
[0034593]25181.Karathanasis, S. K.: Apolipoprotein multigene family: tandem organization of human apolipoprotein AI, CIII, and AIV genes. Proc. Nat. Acad. Sci. 82: 6374-6378, 1985.
[0034594]25182.Bailey, R.; Miller, D. A.: Mapping the human apolipoprotein genes CII and E to band 19q13.1 by in situ hybridization. (Abstract) Am. J. Hum. Genet. 41: A156 only, 1987.
[0034595]25183.Bartres-Faz, D.; Clemente, I. C.; Junque, C.; Valveny, N.; Lopez-Alomar, A.; Sanchez-Aldeguer, J.; Lopez-Guillen, A.; Moral, P.: APOE and APOC1 genetic polymorphisms in age-associated memory impairment. Neurogenetics 3: 215-219, 2001.
[0034596]25184.Crook, T. H.; Bartus, R. T.; Ferris, S. H.; Whitehouse, P.; Cohen, G. D.; Gershon, S.: Age-associated memory impairment: proposed diagnostic criteria and measures of clinical change. Report of a National Institute of Mental Health work group. Dev. Neuropsychol. 2: 261-276, 1986.
[0034597]25185.Davison, P. J.; Norton, P.; Wallis, S. C.; Gill, L.; Cook, M.; Williamson, R.; Humphries, S. E.: There are two gene sequences for human apolipoprotein CI (APO CI) on chromosome 19, one of which is 4 kb from the gene for APO E. Biochem. Biophys. Res. Commun. 136: 876-884, 1986.
[0034598]25186.Gautier, T.; Masson, D.; Jong, M. C.; Duverneuil, L.; Le Guern, N.; Deckert, V.; Pais de Barros, J.-P.; Dumont, L.; Bataille, A.; Zak, Z.; Jiang, X.-C.; Tall, A. R.; Havekes, L. M.; Lagrost, L.: Apolipoprotein CI deficiency markedly augments plasma lipoprotein changes mediated by human cholesteryl ester transfer protein (CETP) in CETP transgenic/ApoCI-knocked out mice. J. Biol. Chem. 277: 31354-31363, 2002.
[0034599]25187.Lauer, S. J.; Walker, D.; Elshourbagy, N. A.; Reardon, C. A.; Levy-Wilson, B.; Taylor, J. M.: Two copies of the human apolipoprotein C-I gene are linked closely to the apolipoprotein E gene. J. Biol. Chem. 263: 7277-7286, 1988.
[0034600]25188.Myklebost, O.; Rogne, S.: The gene for human apolipoprotein CI is located 4.3 kilobases away from the apolipoprotein E gene on chromosome 19. Hum. Genet. 73: 286-289, 1986.
[0034601]25189.Myklebost, O.; Rogne, S.: A physical map of the apolipoprotein gene cluster on human chromosome 19. Hum. Genet. 78: 244-247, 1988.
[0034602]25190.Richards, A. J.; Baguley, D. M.; Yates, J. R. W.; Lane, C.; Nicol, M.; Harper, P. S.; Scott, J. D.; Snead, M. P.: Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix. Am. J. Hum. Genet. 67: 1083-1094, 2000.
[0034603]25191.Stickler, G. B.; Belau, P. G.; Farrell, F. J.; Jones, J. D.; Pugh, D. G.; Steinberg, A. G.; Ward, L. E.: Hereditary progressive arthro-ophthalmopathy. Mayo Clin. Proc. 40: 433-455, 1965.
[0034604]25192.Wilkin, D. J.; Liberfarb, R.; Davis, J.; Levy, H. P.; Cole, W. G.; Francomano, C. A.; Cohn, D. H.: Rapid determination of COL2A1 mutations in individuals with Stickler syndrome: analysis of potential premature termination codons. Am. J. Med. Genet. 94: 141-148, 2000.
[0034605]25193.Williams, C. J.; Ganguly, A.; Considine, E.; McCarron, S.; Prockop, D. J.; Walsh-Vockley, C.; Michels, V. V.: A(-2)-to-G transition at the 3-prime acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred. Am. J. Med. Genet. 63: 461-467, 1996.
[0034606]25194.Zlotogora, J.; Sagi, M.; Schuper, A.; Leiba, H.; Merin, S.: Variability of Stickler syndrome. Am. J. Med. Genet. 42: 337-339, 1992.
[0034607]25195.Brown, S.; Wiebel, F. J.; Gelboin, H. V.; Minna, J. D.: Assignment of a locus required for flavoprotein-linked monooxygenase expression to human chromosome 2. Proc. Nat. Acad. Sci. 73: 4628-4632, 1976.
[0034608]25196.Chen, Y. T.; Tukey, R. H.; Swan, D. C.; Negishi, N.; Nebert, D. W.: Characterization of the human P1-450 genomic gene. (Abstract) Clin. Res. 31: 456A, 1983.
[0034609]25197.Corchero, J.; Pimprale, S.; Kimura, S.; Gonzalez, F. J.: Organization of the CYP1A cluster on human chromosome 15: implications for gene regulation. Pharmacogenetics 11: 1-6, 2001.
[0034610]25198.Gorman, C.; Padmanabhan, R.; Howard, B. H.: High efficiency DNA-mediated transformation of primate cells. Science 221: 551-553, 1983.
[0034611]25199.Gorman, C. M.: CAT: an easy assay for gene expression (citation classic). Current Contents (Life Sciences) 36(22): 8, 1993.
[0034612]25200.Hildebrand, C. E.; Gonzalez, F. J.; Kozak, C. A.; Nebert, D. W. : Regional linkage analysis of the dioxin-inducible P-450 gene family on mouse chromosome 9. Biochem. Biophys. Res. Commun. 130: 396-406, 1985.
[0034613]25201.Lee, S.; Wu, X.; Reid, M. E.; Zelinski, T.; Redman, C. M.: Molecular basis of the Kell (K1) phenotype. Blood 85: 912-916, 1995.
[0034614]25202.Lee, S.; Zambas, E. D.; Marsh, W. L.; Redman, C. M.: The human Kell blood group gene maps to chromosome 7q33 and its expression is restricted to erythroid cells. Blood 81: 2804-2809, 1993.
[0034615]25203.Lee, S.; Zambas, E. D.; Marsh, W. L.; Redman, C. M.: Molecular cloning and primary structure of Kell blood group protein. Proc. Nat. Acad. Sci. 88: 6353-6357, 1991.
[0034616]25204.Marsh, W. L.: Molecular biology of blood groups: cloning of the Kell gene. Transfusion 32: 98-101, 1992.
[0034617]25205.Morton, N. E.; Krieger, H.; Steinberg, A. G.; Rosenfield, R. E. : Genetic evidence confirming the localization of Sutter in the Kell blood-group system. Vox Sang. 10: 608-613, 1965.
[0034618]25206.Murphy, M. T.; Morrison, N.; Miles, J. S.; Fraser, R. H.; Spurr, N. K.; Boyd, E.: Regional chromosomal assignment of the Kell blood group locus (KEL) to chromosome 7q33-q35 by fluorescence in situ hybridization: evidence for the polypeptide nature of antigenic variation. Hum. Genet. 91: 585-588, 1993.
[0034619]25207.Parke, J. T.; Riccardi, V. M.; Lewis, R. A.; Ferrell, R. E.: A syndrome of microcephaly and retinal pigmentary abnormalities without mental retardation in a family with coincidental autosomal dominant hyperreflexia. Am. J. Med. Genet. 17: 585-594, 1984.
[0034620]25208.Purohit, K. R.; Weber, J. L.; Ward, L. J.; Keats, B. J. B.: The Kell blood group locus is close to the cystic fibrosis locus on chromosome 7. Hum. Genet. 89: 457-458, 1992.
[0034621]25209.Russo, D.; Wu, X.; Redman, C. M.; Lee, S.: Expression of Kell blood group protein in nonerythroid tissues Blood 96: 340-346, 2000.
[0034622]25210.Stroup, M.; MacIlroy, M.; Walker, R.; Aydelotte, J. V.: Evidence that Sutter belongs to the Kell blood group system. Transfusion 5: 309-314, 1965.
[0034623]25211.Wagner, T.; Berer, A.; Lanzer, G.; Geissler, K.: Kell is not restricted to the erythropoietic lineage but is also expressed on myeloid progenitor cells. Brit. J. Haemat. 110: 409-411, 2000.
[0034624]25212.Weitkamp, L. R.; Townes, P. L.; Johnston, E.: Linkage data on urinary pepsinogen and the Kell blood group. Birth Defects Orig. Art. Ser. 11(3): 281-282, 1975. Note: Alternate: Cytogenet. Cell Genet. 14: 451-452, 1975.
[0034625]25213.Wimer, B. M.; Marsh, W. L.; Taswell, H. F.: Clinical characteristics of the McLeod blood group phenotype. (Abstract) 19th Annual Meeting of the Am. Soc. Hemat., Boston , 1976.
[0034626]25214.Yu, L.-C.; Twu, Y.-C.; Chang, C.-Y.; Lin, M.: Molecular basis of the Kell-null phenotype: a mutation at the splice site of human KEL gene abolishes the expression of Kell blood group antigens. J. Biol. Chem. 276: 10247-10252, 2001.
[0034627]25215.Zelinski, T. A.; Coghlan, G. E.; Myal, Y.; White, L. J.; Philipps, S. E.: Assignment of the Kell blood group locus to chromosome 7q. (Abstract) Cytogenet. Cell Genet. 58: 1927 only, 1991.
[0034628]25216.Field, L. L.; Marazita, M. L.; Spence, M. A.; Crandall, B. F.; Sparkes, R. S.: Is JK linked to IGK on chromosome 2? (Abstract) Cytogenet. Cell Genet. 40: 628-629, 1985.
[0034629]25217.Gedde-Dahl, T.: Personal Communication. Oslo, Norway 9/26/1986.
[0034630]25218.Geitvik, G. A.; Hoyheim, B.; Gedde-Dahl, T.; Grzeschik, K. H.; Lothe, R.; Tomter, H.; Olaisen, B.: The Kidd (JK) blood group locus assigned to chromosome 18 by close linkage to a DNARFLP. Hum. Genet. 77: 205-209, 1987.
[0034631]25219.Hulten, M.; Lindsten, J.; Pen-Ming, L. M.; Fraccaro, M.; Mannini, A.; Trepolo, L.; Robson, E. B.; Heiken, A.; Tellingen, K. G.: Possible localization of the genes for the Kidd blood group on an autosome involved in a reciprocal translocation. Nature 211: 1067-1068, 1968.
[0034632]25220.Leppert, M.; Ferrell, R.; Kamboh, M. I.; Beasley, J.; O'Connell, P.; Lathrop, M.; Lalouel, J.-M.; White, R.: Linkage of the polymorphic protein markers F13B, C1S, C1R, and blood group antigen Kidd in CEPH reference families. (Abstract) Cytogenet. Cell Genet. 46: 647, 1987.
[0034633]25221.Lucien, N.; Chiaroni, J.; Cartron, J.-P.; Bailly, P.: Partial deletion in the JK locus causing a Jk(null) phenotype. Blood 99: 1079-1081, 2002.
[0034634]25222.Lucien, N.; Sidoux-Walter, F.; Olives, B.; Moulds, J.; Le Pennec, P.-Y.; Cartron, J.-P.; Bailly, P.: Characterization of the gene encoding the human Kidd blood group/urea transporter protein: evidence for splice site mutations in Jk-null individuals. J. Biol. Chem. 273: 12973-12980, 1998.
[0034635]25223.Olives, B.; Mattei, M.-G.; Huet, M.; Neau, P.; Martial, S.; Cartron, J.-P.; Bailly, P.: Kidd blood group and urea transport function of human erythrocytes are carried by the same protein. J. Biol. Chem. 270: 15607-15610, 1995.
[0034636]25224.Albertsen, H.; Plaetke, R.; Ballard, L.; Fujimoto, E.; Connolly, J.; Lawrence, E.; Rodriguez, P.; Robertson, M.; Bradley, P.; Milner, B.; Fuhrman, D.; Marks, A.; Sargent, R.; Cartwright, P.; Matsunami, N.; White, R.: Genetic mapping of the BRCA1 region on chromosome 17q21. Am. J. Hum. Genet. 54: 516-525, 1994.
[0034637]25225.Andersen, T. I.; Borresen, A.-L.; Moller, P.: A common BRCA1 mutation in Norwegian breast and ovarian cancer families? Am. J. Hum. Genet. 59: 486-487, 1996.
[0034638]25226.Anderson, S. F.; Schlegel, B. P.; Nakajima, T.; Wolpin, E. S.; Parvin, J. D.: BRCA1 protein is linked to the RNA polymerase II holoenzyme complex via RNA helicase A. Nature Genet. 19: 254-256, 1998.
[0034639]25227.Arason, A.; Barkardottir, R. B.; Egilsson, V.: Linkage analysis of chromosome 17q markers and breast-ovarian cancer in Icelandic families, and possible relationship to prostatic cancer. Am. J. Hum. Genet. 52: 711-717, 1993.
[0034640]25228.Womack, J. E.: Personal Communication. College Station, Texas 2/26/1990.
[0034641]25229.Hiraoka, L. R.; Hsu, L.; Hsieh, C.-L.: Assignment of ALDH3 to human chromosome 17p11.2 and ALDH5 to human chromosome 9p13. Genomics 25: 323-325, 1995.
[0034642]25230.Vasiliou, V.; Bairoch, A.; Tipton, K. F.; Nebert, D. W.: Eukaryotic aldehyde dehydrogenase (ALDH) genes: human polymorphisms, and recommended nomenclature based on divergent evolution and chromosomal mapping. Pharmacogenetics 9: 421-434, 1999.
[0034643]25231.Harada, S.; Agarwal, D. P.; Goedde, H. W.: Electrophoretic and biochemical studies of human aldehyde dehydrogenase isozymes in various tissues. Life Sci. 26: 1773-1780, 1980.
[0034644]25232.Hsu, L. C.; Chang, W.-C.; Yoshida, A.: Cloning of a new human aldehyde dehydrogenase gene and comparison with liver cytosolic ALDH1 and mitochondrial ALDH2 genes. (Abstract) Am. J. Hum. Genet. 45 (suppl.): A196 only, 1989.
[0034645]25233.Hsu, L. C.; Chang, W. C.: Cloning and characterization of a new functional human aldehyde dehydrogenase gene. J. Biol. Chem. 266: 12257-12265, 1991.
[0034646]25234.Ashworth, A.: Two acetyl-CoA acetyltransferase genes located in the t-complex region of mouse chromosome 17 partially overlap the Tcp-1 and Tcp-1x genes. Genomics 18: 195-198, 1993.
[0034647]25235.Bennett, M. J.; Hosking, G. P.; Smith, M. F.; Gray, R. G. F.; Middleton, B.: Biochemical investigations on a patient with a defect in cytosolic acetoacetyl-CoA thiolase, associated with mental retardation. J. Inherit. Metab. Dis. 7: 125-128, 1984.
[0034648]25236.Wunderle, V. M.; Critcher, R.; Hastie, N.; Goodfellow, P. N.; Schedl, A.: Deletion of long-range regulatory elements upstream of SOX9 causes campomelic dysplasia. Proc. Nat. Acad. Sci. 95: 10649-10654, 1998.
[0034649]25237.Young, I. D.; Zuccollo, J. M.; Maltby, E. L.; Broderick, N. J. : Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation. J. Med. Genet. 29: 251-252, 1992.
[0034650]25238.Lynch, H. T.; Schuelke, G. S.; Kimberling, W. J.; Albano, W. A.; Lynch, J. F.; Biscone, K. A.; Lipkin, M. L.; Deschner, E. E.; Mikol, Y. B.; Sandberg, A. A.; Elston, R. C.; Bailey-Wilson, J. E.; Danes, B. S.: Hereditary nonpolyposis colorectal cancer (Lynch syndromes I and II). II. Biomarker studies. Cancer 56: 939-951, 1985.
[0034651]25239.Bourn, D.; Carter, S. A.; Mason, S.; Evans, D. G. R.; Strachan, T.: Germline mutations in the neurofibromatosis type 2 tumor suppressor gene. Hum. Molec. Genet. 3: 813-816, 1994.
[0034652]25240.Bouzas, E. A.; Freidlin, V.; Parry, D. M.; Eldridge, R.; Kaiser-Kupfer, M. I.: Lens opacities in neurofibromatosis 2: further significant correlations. Brit. J. Ophthal. 77: 354-357, 1993.
[0034653]25241.Bouzas, E. A.; Parry, D. M.; Eldridge, R.; Kaiser-Kupfer, M. I. : Visual impairment in patients with neurofibromatosis 2. Neurology 43: 622-623, 1993.
[0034654]25242.Bruder, C. E. G.; Hirvela, C.; Tapia-Paez, I.; Fransson, I.; Segraves, R.; Hamilton, G.; Zhang, X. X.; Evans, D. G.; Wallace, A. J.; Baser, M. E.; Zucman-Rossi, J.; Hergersberg, M.; and 22 others: High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH. Hum. Molec. Genet. 10: 271-282, 2001.
[0034655]25243.Claudio, J. O.; Malo, D.; Rouleau, G. A.: The mouse neurofibromatosis type 2 gene maps to chromosome 11. Genomics 21: 437-439, 1994.
[0034656]25244.Egan, R. A.; Thompson, C. R.; MacCollin, M.; Lessell, S.: Monocular elevator paresis in neurofibromatosis type 2. Neurology 56: 1222-1224, 2001.
[0034657]25245.Eldridge, R.: Central neurofibromatosis with bilateral acoustic neuroma. Adv. Neurol. 29: 57-65, 1981.
[0034658]25246.Eldridge, R.; Parry, D. M.; Kaiser-Kupfer, M. I.: Neurofibromatosis 2 (NF2): clinical heterogeneity and natural history based on 39 individuals in 9 families and 16 sporadic cases. (Abstract) Am. J. Hum. Genet. 49 (suppl.): 133, 1991.
[0034659]25247.Evans, D. G. R.; Birch, J. M.; Ramsden, R. T.: Paediatric presentation of type 2 neurofibromatosis. Arch. Dis. Child. 81: 496-499, 1999.
[0034660]25248.Evans, D. G. R.; Bourn, D.; Wallace, A.; Ramsden, R. T.; Mitchell, J. D.; Strachan, T.: Diagnostic issues in a family with late onset type 2 neurofibromatosis. J. Med. Genet. 32: 470-474, 1995.
[0034661]25249.Evans, D. G. R.; Huson, S. M.; Donnai, D.; Neary, W.; Blair, V.; Newton, V.; Strachan, T.; Harris, R.: A genetic study of type 2 neurofibromatosis in the United Kingdom. II. Guidelines for genetic counselling. J. Med. Genet. 29: 847-852, 1992.
[0034662]25250.Evans, D. G. R.; Huson, S. M.; Donnai, D.; Neary, W.; Blair, V.; Teare, D.; Newton, V.; Strachan, T.; Ramsden, R.; Harris, R.: A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity. J. Med. Genet. 29: 841-846, 1992.
[0034663]25251.Evans, D. G. R.; Trueman, L.; Wallace, A.; Collins, S.; Strachan, T.: Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations. J. Med. Genet. 35: 450-455, 1998.
[0034664]25252.Evans, D. G. R.; Wallace, A. J.; Wu, C. L.; Trueman, L.; Ramsden, R. T.; Strachan, T.: Somatic mosaicism: a common cause of classic disease in tumor-prone syndromes? Lessons from type 2 neurofibromatosis. Am. J. Hum. Genet. 63: 727-736, 1998.
[0034665]25253.Fabricant, R. N.; Todaro, G. J.; Eldridge, R.: Increased levels of a nerve-growth factor cross-reacting protein in 'central' neurofibromatosis. Lancet I: 4-7, 1979.
[0034666]25254.Feiling, A.; Ward, E.: A familial form of acoustic tumour. Brit. Med. J. 1: 496-497, 1920.
[0034667]25255.Fernandez-Valle, C.; Tang, Y.; Ricard, J.; Rodenas-Ruano, A.; Taylor, A.; Hackler, E.; Biggerstaff, J.; Iacovelli, J.: Paxillin binds schwannomin and regulates its density-dependent localization and effect on cell morphology. Nature Genet. 31: 354-362, 2002.
[0034668]25256.Gardner, W. J.; Frazier, C. H.: Hereditary bilateral acoustic tumors. J. Hered. 22: 7-8, 1933.
[0034669]25257.Gardner, W. J.; Frazier, C. H.: Bilateral acoustic neurofibromas. A clinical study and survey of a family of five generations with bilateral deafness in 38 members. Arch. Neurol. Psychiat. 23: 266-302, 1930.
[0034670]25258.Gardner, W. J.; Turner, O.: Bilateral acoustic neurofibromas: further clinical and pathologic data on hereditary deafness and Recklinghausen's disease. Arch. Neurol. Psychiat. 44: 76-99, 1940.
[0034671]25259.Giovannini, M.; Robanus-Maandag, E.; van der Valk, M.; Niwa-Kawakita, M.; Abramowski, V.; Goutebroze, L.; Woodruff, J. M.; Berns, A.; Thomas, G.: Conditional biallelic Nf2 mutation in the mouse promotes manifestations of human neurofibromatosis type 2. Genes Dev. 14: 1617-1630, 2000.
[0034672]25260.Gutmann, D. H.: The neurofibromatoses: when less is more. Hum. Molec. Genet. 10: 747-755, 2001.
[0034673]25261.Gutmann, D. H.; Haipek, C. A.; Burke, S. P.; Sun, C.-X.; Scoles, D. R.; Pulst, S. M.: The NF2 interactor, hepatocyte growth factor-regulated tyrosine kinase substrate (HRS), associates with merlin in the 'open' conformation and suppresses cell growth and motility. Hum. Molec. Genet. 10: 825-834, 2001.
[0034674]25262.Gutmann, D. H.; Hirbe, A. C.; Haipek, C. A.: Functional analysis of neurofibromatosis 2 (NF2) missense mutations. Hum. Molec. Genet. 10: 1519-1529, 2001.
[0034675]25263.Gutmann, D. H.; Sherman, L.; Seftor, L.; Haipek, C.; Lu, K. H.; Hendrix, M.: Increased expression of the NF2 tumor suppressor gene product, merlin, impairs cell motility, adhesion and spreading. Hum. Molec. Genet. 8: 267-275, 1999.
[0034676]25264.Jacoby, L. B.; Jones, D.; Davis, K.; Kronn, D.; Short, M. P.; Gusella, J.; MacCollin, M.: Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis. Am. J. Hum. Genet. 61: 1293-1302, 1997.
[0034677]25265.Kaiser-Kupfer, M. I.; Freidlin, V.; Datiles, M. B.; Edwards, P. A.; Sherman, J. L.; Parry, D.; McCain, L. M.; Eldridge, R.: The association of posterior capsular lens opacities with bilateral acoustic neuromas in patients with neurofibromatosis type 2. Arch. Ophthal. 107: 541-544, 1989.
[0034678]25266.Kanter, W. R.; Eldridge, R.; Fabricant, R.; Allen, J. C.; Koerber, T.: Central neurofibromatosis with bilateral acoustic neuroma: genetic, clinical and biochemical distinctions from peripheral neurofibromatosis. Neurology 30: 851-859, 1980.
[0034679]25267.Kehrer-Sawatzki, H.; Udart, M.; Krone, W.; Baden, R.; Fahsold, R.; Thomas, G.; Schmucker, B.; Assum, G.: Mutational analysis and expression studies of the neurofibromatosis type 2 (NF2) gene in a patient with a ring chromosome 22 and NF2. Hum. Genet. 100: 67-74, 1997.
[0034680]25268.Kedes, L.; Ng, S.-Y.; Lin, C.-S.; Gunning, P.; Eddy, R.; Shows, T.; Leavitt, J.: The human beta-actin multigene family. Trans. Assoc. Am. Phys. 98: 42-46, 1985.
[0034681]25269.Leavitt, J.; Bushar, G.; Kakunaga, T.; Hamada, H.; Hirakawa, T.; Goldman, D.; Merril, C.: Variations in expression of mutant beta-actin accompanying incremental increases in human fibroblast tumorigenicity. Cell 28: 259-268, 1982.
[0034682]25270.Nakajima-Iijima, S.; Hamada, H.; Reddy, P.; Kakunaga, T.: Molecular structure of the human cytoplasmic beta-actin gene; interspecies homology of sequences in the introns. Proc. Nat. Acad. Sci. 82: 6133-6137, 1985.
[0034683]25271.Ng, S.-Y.; Gunning, P.; Eddy, R.; Ponte, P.; Leavitt, J.; Kedes, L.; Shows, T.: Chromosome 7 assignment of the human beta-actin functional gene (ACTB) and the chromosomal dispersion of pseudogenes. (Abstract) Cytogenet. Cell Genet. 40: 712 only, 1985.
[0034684]25272.Ng, S.-Y.; Gunning, P.; Eddy, R.; Ponte, P.; Leavitt, J.; Shows, T.; Kedes, L.: Evolution of the functional human beta-actin gene and its multi-pseudogene family: conservation of the noncoding regions and chromosomal dispersion of pseudogenes. Molec. Cell. Biol. 5: 2720-2732, 1985.
[0034685]25273.Toyama, S.; Toyama, S.: A variant form of beta-actin in a mutant of KB cells resistant to cytochalasin B. Cell 37: 609-614, 1984.
[0034686]25274.Vandekerckhove, J.; Weber, K.: Mammalian cytoplasmic actins are the products of at least two genes and differ in primary structure in at least 25 identified positions from skeletal muscle actins. Proc. Nat. Acad. Sci. 75: 1106-1110, 1978.
[0034687]25275.Allderdice, P. W.; Kaita, H.; Lewis, M.; McAlpine, P. J.; Wong, P.; Anderson, J.; Giblett, E. R.: Segregation of marker loci in families with an inherited paracentric insertion of chromosome 9. Am. J. Hum. Genet. 39: 612-617, 1986.
[0034688]25276.Beutler, E.; Carson, D.; Dannawi, H.; Forman, L.; Kuhl, W.; West, C.; Westwood, B.: Metabolic compensation for profound erythrocyte adenylate kinase deficiency: a hereditary enzyme defect without hemolytic anemia. J. Clin. Invest. 72: 648-655, 1983.
[0034689]25277.Beutler, E.; Carson, D. A.; Dannawi, H.; Forman, L.; Kuhl, W.; West, C.; Westwood, B.: Red cell adenylate kinase deficiency: another non-disease? (Abstract) Blood 60: 33A only, 1982.
[0034690]25278.Bianchi, P.; Zappa, M.; Bredi, E.; Vercellati, C.; Pelissero, G.; Barraco, F.; Zanella, A.: A case of complete adenylate kinase deficiency due to a nonsense mutation in AK-1 gene (arg107-to-stop, CGA-to-TGA) associated with chronic haemolytic anaemia. Brit. J. Haemat. 105: 75-79, 1999.
[0034691]25279.Boivin, P.; Galand, C.; Hakim, J.; Simony, D.; Seligman, M.: Une nouvelle erythroenzymopathie: anemie hemolytique congenitale non spherocytaire et deficit hereditaire en adenylate-kinase erythrocytaire. Presse Med. 79: 215-218, 1971.
[0034692]25280.Boivin, P.; Galand, C.; Hakim, J.; Simony, D.; Seligman, M.: Deficit congenital en adenylate-kinase erythrocytaire. (Letter) Presse Med. 78: 1443 only, 1970.
[0034693]25281.Bowman, J. E.; Frischer, H.; Ajmar, F.; Carson, P. E.; Gower, M. K.: Population, family and biochemical investigation of human adenylate kinase polymorphism. Nature 214: 1156-1158, 1967.
[0034694]25282.Brock, D. J. H.: Evidence against a common subunit in adenylate kinase and pyruvate kinase. Humangenetik 10: 30-34, 1970.
[0034695]25283.Cavalli-Sforza, L. L.; King, M. C.; Go, R. C. P.; Namboodiri, K. K.; Lynch, H. T.; Wong, L.; Kaplan, E. B.; Elston, R. C.: Possible linkage between transcobalamin II (TC II) and adenylate kinase (AK). (Abstract) Cytogenet. Cell Genet. 25: 140-141, 1979.
[0034696]25284.Cook, P. J. L.; Robson, E. B.; Buckton, K. E.; Slaughter, C. A.; Gray, J. E.; Blank, C. E.; James, F. E.; Ridler, M. A. C.; Insley, J.; Hulten, M.: Segregation of ABO, AK(1) and ACONs in families with abnormalities of chromosome 9. Ann. Hum. Genet. 41: 365-377, 1978.
[0034697]25285.Fenger, K.; Sorensen, S. A.: Evaluation of a possible sex difference in recombination for the ABO-AK linkage. Am. J. Hum. Genet. 27: 784-788, 1975.
[0034698]25286.Ferguson-Smith, M. A.; Aitken, D. A.; Turleau, C.; de Grouchy, J.: Localisation of the human ABO: Np-1: AK-1 linkage group by regional assignment of AK-1 to 9q34. Hum. Genet. 34: 35-43, 1976.
[0034699]25287.Fildes, R. A.; Harris, H.: Genetically determined variation of adenylate kinase in man. Nature 209: 261-262, 1966.
[0034700]25288.Geurts van Kessel, A. H. M.; Hagemeijer, A.; Westerveld, A.; Meera Khan, P.; de Groot, P. G.; Pearson, P. L.: Characterization of chromosomal abnormalities in chronic myeloid leukemia using somatic cell hybrids. (Abstract) Cytogenet. Cell Genet. 32: 280 only, 1982.
[0034701]25289.Lachant, N. A.; Zerez, C. R.; Barredo, J.; Lee, D. W.; Savely, S. M.; Tanaka, K. R.: Hereditary erythrocyte adenylate kinase deficiency: a defect of multiple phosphotransferases? Blood 77: 2774-2784, 1991.
[0034702]25290.Matsuura, S.; Igarashi, M.; Tanizawa, Y.; Yamada, M.; Kishi, F.; Kajii, T.; Fujii, H.; Miwa, S.; Sakurai, M.; Nakazawa, A.: Human adenylate kinase deficiency associated with hemolytic anemia: a single base substitution affecting solubility and catalytic activity of the cytosolic adenylate kinase. J. Biol. Chem. 264: 10148-10155, 1989.
[0034703]25291.Miwa, S.; Fujii, H.; Tani, K.; Takahashi, K.; Takizawa, T.; Igarashi, T.: Red cell adenylate kinase deficiency associated with hereditary nonspherocytic hemolytic anemia: clinical and biochemical studies. Am. J. Hemat. 14: 325-333, 1983.
[0034704]25292.Mohandas, T.; Sparkes, R. S.; Sparkes, M. C.; Shulkin, J. D.; Toomey, K. E.; Funderburk, S. J.: Regional localization of human gene loci on chromosome 9: studies of somatic cell hybrids containing human translocations. Am. J. Hum. Genet. 31: 586-600, 1979.
[0034705]25293.Povey, S.; Slaughter, C. A.; Wilson, D. E.; Gormley, I. P.; Buckton, K. E.; Perry, P.; Bobrow, M.: Evidence for the assignment of loci AK 1, AK 3 and ACON to chromosome 9 in man. Ann. Hum. Genet. 39: 413-422, 1976.
[0034706]25294.Qualtieri, A.; Pedace, V.; Bisconte, M. G.; Bria, M.; Gulino, B.; Andreoli, V.; Brancati, C.: Severe erythrocyte adenylate kinase deficiency due to homozygous A-to-G substitution at codon 164 of human AK1 gene associated with chronic haemolytic anaemia. Brit. J. Haemat. 99: 770-776, 1997.
[0034707]25295.Rapley, S.; Robson, E. B.; Harris, H.; Smith, S. M.: Data on the incidence, segregation and linkage relations of the adenylate kinase (AK) polymorphism. Ann. Hum. Genet. 31: 237-242, 1967.
[0034708]25296.Ohno, S.: Original domain for the serum albumin family arose from repeated sequences. Proc. Nat. Acad. Sci. 78: 7657-7661, 1981.
[0034709]25297.Ott, H.: Analbuminemia.In: Linneweh, F.: Erbliche Stoffwechselkrankheiten. Munich: Urban und Schwarzenberg (pub.) 1962. Pp. 44.
[0034710]25298.Peach, R. J.; Brennan, S. O.: Structural characterization of a glycoprotein variant of human serum albumin: albumin Casebrook (494 asp-to-asn). Biochim. Biophys. Acta 1097: 49-54, 1991.
[0034711]25299.Peach, R. J.; Fellowes, A. P.; Brennan, S. O.; George, P. M.: Albumin Rugby Park: a truncated albumin variant caused by a G-to-C splice-site mutation in intron 13. Biochim. Biophys. Acta 1180: 107-110, 1992.
[0034712]25300.Petersen, C. E.; Scottolini, A. G.; Cody, L. R.; Mandel, M.; Reimer, N.; Bhagavan, N. V.: A point mutation in the human serum albumin gene results in familial dysalbuminaemic hyperthyroxinaemia. J. Med. Genet. 31: 355-359, 1994.
[0034713]25301.Pinkert, C. A.; Ornitz, D. M.; Brinster, R. L.; Palmiter, R. D. : An albumin enhancer located 10 kb upstream functions along with its promoter to direct efficient, liver-specific expression in transgenic mice. Genes Dev. 1: 268-276, 1987.
[0034714]25302.Pohlenz, J.; Sadow, P. M.; Koffler, T.; Schonberger, W.; Weiss, R. E.; Refetoff, S.: Congenital hypothyroidism in a child with unsuspected familial dysalbuminemic hyperthyroxinemia caused by a mutation (R218H) in the human albumin gene. J. Pediat. 139: 887-891, 2001.
[0034715]25303.Prager, E. M.; Wilson, A. C.; Lowenstein, J. M.; Sarich, V. M. : Mammoth albumin. Science 209: 287-289, 1980.
[0034716]25304.Premachandra, B. N.; Wolfe, B.; Williams, I. K.: Coexistence of familial dysalbuminemic hyperthyroxinemia with familial hypercholesterolemia and multiple lipoprotein type hyperlipidemia. Am. J. Med. 84: 345-351, 1988.
[0034717]25305.Putnam, F. W.: Personal Communication. Bloomington, Ind. 8/4/1993.
[0034718]25306.Rajatanavin, R.; Fournier, L.; DeCosimo, D.; Abreau, C.; Braverman, L. E.: Elevated serum free thyroxine by thyroxine analog radioimmunoassays in euthyroid patients with familial dysalbuminemic hyperthyroxinemia. Ann. Intern. Med. 97: 865-866, 1982.
[0034719]25307.Rajatanavin, R.; Young, R. A.; Braverman, L. E.: Effect of chloride on serum thyroxine binding in familial dysalbuminemic hyperthyroxinemia. J. Clin. Endocr. Metab. 58: 388-391, 1984.
[0034720]25308.Rochu, D.; Fine, J. M.: New method for identifying genetic variants of human proalbumin. Clin. Chem. 32: 2063-2065, 1986.
[0034721]25309.Ruffner, D. E.; Dugaiczyk, A.: Splicing mutation in human hereditary analbuminemia. Proc. Nat. Acad. Sci. 85: 2125-2129, 1988.
[0034722]25310.Ruiz, M.; Rajatanavin, R.; Young, R. A.; Taylor, C.; Brown, R.; Braverman, L. E.; Ingbar, S. H.: Familial dysalbuminemic hyperthyroxinemia: a syndrome that can be confused with thyrotoxicosis. New Eng. J. Med. 306: 635-639, 1982. 100. Sakamoto, Y.; Davis, E.; Madison, J.; Watkins, S.; McLaughlin, H.; Leahy, D. T.; Putnam, F. W.: Purification and structural study of two albumin variants in an Irish population. Clin. Chim. Acta 204: 179-188, 1991. 101. Sanders, G. T. B.; Tarnoky, A. L.: Albumin Amsterdam: a new European albumin variant. IRCS Med. Sci. 7: 581 only, 1979. 102. Sarcione, E. J.; Aungst, C. W.: Studies in bisalbuminemia: binding properties of the two albumins. Blood 20: 156-164, 1962. 103. Sargent, T. D.; Wu, J.-R.; Sala-Trepat, J. M.; Wallace, R. B.; Reyes, A. A.; Bonner, J.: The rat serum albumin gene: analysis of cloned sequences. Proc. Nat. Acad. Sci. 76: 3256-3260, 1979. 104. Sarich, V. M.: Generation time and albumin evolution. Biochem. Genet. 7: 205-212, 1972. 105. Schell, L. M.; Agarwal, S. S.; Blumberg, B. S.; Levy, H.; Bennett, H.; Laughlin, W. S.; Martin, J. P.: Distribution of albumin variants Naskapi and Mexico among Aleuts, Frobisher Bay Eskimos, and Micmac, Naskapi, Mohawk, Omaha and Apache Indians. Am. J. Phys. Anthrop. 49: 111-118, 1978. 106. Schell, L. M.; Blumberg, B. S.: The genetics of human serum albumin.In: Rosenoer, V. M.; Oratz, M.; Rothschild, M. A.: Albumin Structure, Function and Uses. Oxford: Pergamon Press (pub.) 1977. Pp. 113-141. 107. Shalaby, F.; Shafritz, D. A.: Exon skipping during splicing of albumin mRNA precursors in Nagase analbuminemic rats. Proc. Nat. Acad. Sci. 87: 2652-2656, 1990. 108. Shashaty, G.; Atamer, M.: Acquired bisalbuminemia with hyperamylasemia. Digest. Dis. 17: 59-67, 1972. 109. Shibata, T.; Abe, T.: Linkage between the loci for serum albumin and vitamin D binding protein (GC) in the Japanese quail. Animal Genet. 27: 195-197, 1996. 110. Silverberg, J. D. H.; Premachandra, B. N.: Familial hyperthyroxinemia due to abnormal thyroid hormone binding. Ann. Intern. Med. 96: 183-186, 1982. 111. Sunthornthepvarakul, T.; Likitmaskul, S.; Ngowngarmratana, S.; Angsusingha, K.; Kitvitayasak, S.; Scherberg, N. H.; Refetoff, S. : Familial dysalbuminemic hypertriiodothyroninemia: a new, dominantly inherited albumin defect. J. Clin. Endocr. Metab. 83: 1448-1454, 1998. 112. Swain, B. K.; Talukder, G.; Sharma, A.: Bisalbuminaemia: reports from Calcutta. Biomedicine 33: 172-173, 1980. 113. Takahashi, N.; Takahashi, Y.; Blumberg, B. S.; Putnam, F. W. : Amino acid substitutions in genetic variants of human serum albumin and in sequences inferred from molecular cloning. Proc. Nat. Acad. Sci. 84: 4413-4417, 1987. 114. Takahashi, N.; Takahashi, Y.; Isobe, T.; Putnam, F. W.; Fujita, M.; Satoh, C.; Neel, J. V.: Amino acid substitutions in inherited albumin variants from Amerindian and Japanese populations. Proc. Nat. Acad. Sci. 84: 8001-8005, 1987. 115. Takahashi, N.; Takahashi, Y.; Putnam, F. W.: Structural changes and metal binding by proalbumins and other amino-terminal genetic variants of human serum albumin. Proc. Nat. Acad. Sci. 84: 7403-7407, 1987. 116. Tarnoky, A. L.; Lestas, A. N.: A new type of bisalbuminaemia. Clin. Chim. Acta 9: 551-558, 1964. 117. Urano, Y.; Sakai, M.; Watanabe, K.; Tamaoki, T.: Tandem arrangement of the albumin and alpha-fetoprotein genes in the human genome. Gene 32: 255-261, 1984. 118. Vanzetti, G.; Porta, F.; Prencipe, L.; Scherini, A.; Fraccaro, M.: A homozygote for a serum albumin variant of the fast type. Hum. Genet. 46: 5-9, 1979. 119. Vaysse, J.; Pilardeau, P.; Garnier, M.: Trisalbuminemia. (Letter) New Eng. J. Med. 305: 833-834, 1981. 120. Wada, N.; Chiba, H.; Shimizu, C.; Kijima, H.; Kubo, M.; Koike T.: A novel missense mutation in codon 218 of the albumin gene in a distinct phenotype of familial dysalbuminemic hyperthyroxinemia in a Japanese kindred. J. Clin. Endocr. Metab. 82: 3246-3250, 1997. 121. Watkins, S.; Madison, J.; Galliano, M.; Minchiotti, L.; Putnam, F. W.: A nucleotide insertion and frameshift cause analbuminemia in an Italian family. Proc. Nat. Acad. Sci. 91: 2275-2279, 1994. 122. Weitkamp, L. R.: Comparative gene mapping: linkage between the albumin and Gc loci in the horse. (Abstract) Am. J. Hum. Genet. 30: 128A only, 1978. 123. Weitkamp, L. R.; Buck, A. A.: Phenotype frequencies for four serum proteins in Afghanistan: two 'new' albumin variants. Humangenetik 15: 335-340, 1972. 124. Weitkamp, L. R.; Chagnon, N. A.: Albumin Maku: a new variant of human serum albumin. Nature 217: 759-760, 1968. 125. Weitkamp, L. R.; Franglen, G.; Rokala, D. A.; Polesky, H. F.; Simpson, N. E.; Sunderman, F. W., Jr.; Bell, H. E.; Saave, J.; Lisker, R.; Bohls, S. W.: An electrophoretic comparison of human serum albumin variants: eight distinguishable types. Hum. Hered. 19: 159-169, 1969. 126. Weitkamp, L. R.; Renwick, J. H.; Berger, J. P.; Shreffler, D. C.; Drachmann, O.; Wuhrmann, F.; Braend, M.; Franglen, G.: Additional data and summary for albumin-GC linkage in man. Hum. Hered. 20: 1-7, 1970. 127. Weitkamp, L. R.; Robson, E. B.; Shreffler, D. C.; Corney, G. : An unusual human serum albumin variant: further data on genetic linkage between loci for human serum albumin and group-specific component (GC). Am. J. Hum. Genet. 20: 392-397, 1968. 128. Weitkamp, L. R.; Rucknagel, D. L.; Gershowitz, H.: Genetic linkage between structural loci for albumin and group specific component (GC). Am. J. Hum. Genet. 18: 559-571, 1966. 129. Weitkamp, L. R.; Salzano, F. M.; Neel, J. V.; Porta, F.; Geerdink, R. A.; Tarnoky, A. L.: Human serum albumin: twenty-three genetic variants and their population distribution. Ann. Hum. Genet. 36: 381-392, 1973. 130. Weitkamp, L. R.; Shreffler, D. C.; Robbins, J. L.; Drachmann, O.; Adner, P. L.; Weime, R. J.; Simon, N. M.; Cooke, K. B.; Sandor, G.; Wuhrmann, F.; Braend, M.; Tarnoky, A. L.: An electrophoretic comparison of serum albumin variants from nineteen unrelated families. Acta Genet. Statist. Med. 17: 399-405, 1967. 131. Wieme, R. J.: On the presence of two albumins in certain normal human sera and its genetic determination. Clin. Chim. Acta 5: 443-445, 1960. 132. Williams, D. I.; Martin, N. H.: Bisalbuminemia with curious acrocyanotic skin changes (two cases). Proc. Roy. Soc. Med. 53: 566-568, 1960. 133. Yabu, Y.; Amir, S. M.; Ruiz, M.; Braverman, L. E.; Ingbar, S. H.: Heterogeneity of thyroxine binding by serum albumins in normal subjects and patients with familial dysalbuminemic hyperthyroxinemia. J. Clin. Endocr. Metab. 60: 451-459, 1985. 134. Yabu, Y.; Miyai, K.; Kobayashi, A.; Miki, K.; Doi, K.; Takamatsu, J.; Mozai, T.; Matsuzuka, F.; Kuma, K.: A new type of albumin with predominantly increased binding affinity for 3,3-prime,5-triiodothyronine in a patient with Graves' disease. J. Endocr. Invest. 10: 163-169, 1987. 135. Yeo, P. P. B.; Yabu, Y.; Etzkorn, J. R.; Rajatanavin, R.; Braverman, L. E.; Ingbar, S. H.: A four generation study of dysalbuminemic hyperthyroxinemia: diagnosis in the presence of an acquired excess of thyroxine-binding globulin. J. Endocr. Invest. 10: 33-38, 1987. 136. Ying, Q.; Liang, Z.; Wu, H.; Wang, L.: The gene frequency of serum albumin variants in Chinese and the electrophoretic characterization of several serum albumin variants. Scientia Sinica 24: 1597-1602, 1981.
[0034723]25311.Osier, M. V.; Pakstis, A. J.; Soodyall, H.; Comas, D.; Goldman, D.; Odunsi, A.; Okonofua, F.; Parnas, J.; Schulz, L. O.; Bertranpetit, J.; Bonne-Tamir, B.; Lu, R.-B.; Kidd, J. R.; Kidd, K. K.: A global perspective on genetic variation at the ADH genes reveals unusual patterns of linkage disequilibrium and diversity. Am. J. Hum. Genet. 71: 84-99, 2002.
[0034724]25312.Comings, D. E.; Gade-Andavolu, R.; Gonzalez, N.; Blake, H.; Wu, S.; MacMurray, J. P.: Additive effect of three noradrenergic genes (ADRA2A, ADRA2C, DBH) on attention-deficit hyperactivity disorder and learning disabilities in Tourette syndrome subjects. Clin. Genet. 55: 160-172, 1999.
[0034725]25313.Halperin, J. M.; Newcorn, J. H.; Koda, V. H.; Pick, L.; McKay, K. E.; Knott, P.: Noradrenergic mechanisms in ADHD children with and without reading disabilities: a replication and extension. J. Am. Acad. Child Adolesc. Psychiat. 36: 1688-1697, 1997.
[0034726]25314.Hein, L.; Altman, J. D.; Kobilka, B. K.: Two functionally distinct alpha-2-adrenergic receptors regulate sympathetic neurotransmission. Nature 402: 181-184, 1999.
[0034727]25315.Hoehe, M.; Berrettini, W.; Leppert, M.; Lalouel, J.-M.; Byerley, W.; Gershon, E.; White, R.: Genetic mapping of adrenergic receptor genes. (Abstract) Am. J. Hum. Genet. 45 (suppl.): A143 only, 1989.
[0034728]25316.Hoehe, M. R.; Berrettini, W. H.; Lentes, K.-U.: Dra I identifies a two allele DNA polymorphism in the human alpha-2-adrenergic receptor gene (ADRAR), using a 5.5 kb probe (p ADRAR). Nucleic Acids Res. 16: 9070 only, 1988.
[0034729]25317.Kobilka, B. K.; Matsui, H.; Kobilka, T. S.; Yang-Feng, T. L.; Francke, U.; Caron, M. G.; Lefkowitz, R. J.; Regan, J. W.: Cloning, sequencing, and expression of the gene coding for the human platelet alpha-2-adrenergic receptor. Science 238: 650-656, 1987.
[0034730]25318.Oakey, R. J.; Caron, M. G.; Lefkowitz, R. J.; Seldin, M. F.: Genomic organization of adrenergic and serotonin receptors in the mouse: linkage mapping of sequence-related genes provides a method for examining mammalian chromosome evolution. Genomics 10: 338-344, 1991.
[0034731]25319.Philipp, M.; Brede, M. E.; Hadamek, K.; Gessler, M.; Lohse, M. J.; Hein, L.: Placental alpha-2-adrenoceptors control vascular development at the interface between mother and embryo. Nature Genet. 31: 311-315, 2002.
[0034732]25320.Surprenant, A.; Horstman, D. A.; Akbarali, H.; Limbird, L. E.: A point mutation of the alpha-2-adrenoceptor that blocks coupling to potassium but not calcium currents. Science 257: 977-980, 1992.
[0034733]25321.Yang-Feng, T. L.; Kobilka, B. K.; Caron, M. G.; Lefkowitz, R. J.; Francke, U.: Chromosomal assignment of genes for an alpha-adrenergic receptor (ADRAR) and for another member of this receptor family coupled to guanine nucleotide regulatory proteins (RG21). (Abstract) Cytogenet. Cell Genet. 46: 722-723, 1987.
[0034734]25322.Bruno, J. F.; Whittaker, J.; Song, J.; Berelowitz, M.: Molecular cloning and sequencing of a cDNA encoding a human alpha-1A adrenergic receptor. Biochem. Biophys. Res. Commun. 179: 1485-1490, 1991.
[0034735]25323.Esbenshade, T. A.; Hirasawa, A.; Tsujimoto, G.; Tanaka, T.; Yano, J.; Minneman, K. P.; Murphy, T. J.: Cloning of the human alpha-1D-adrenergic receptor and inducible expression of three subtypes in SK-N-MC cells. Molec. Pharm. 47: 977-985, 1995.
[0034736]25324.Forray, C.; Bard, J. A.; Wetzel, J. M.; Chiu, G.; Shapiro, E.; Tang, R.; Lepor, H.; Hartig, P. R.; Weinshank, R. L.; Branchek, T. A.; Gluchowski, C.: The alpha-1-adrenergic receptor that mediates smooth muscle contraction in human prostate has the pharmacological properties of the cloned human alpha-1C subtype. Molec. Pharm. 45: 703-708, 1994.
[0034737]25325.Loftus, S. K.; Shiang, R.; Warrington, J. A.; Bengtsson, U.; McPherson, J. D.; Wasmuth, J. J.: Genes encoding adrenergic receptors are not clustered on the long arm of human chromosome 5. Cytogenet. Cell Genet. 67: 69-74, 1994.
[0034738]25326.Lomasney, J. W.; Cotecchia, S.; Lorenz, W.; Leung, W.-Y.; Schwinn, D. A.; Yang-Feng, T. L.; Brownstein, M.; Lefkowitz, R. J.; Caron, M. G.: Molecular cloning and expression of the cDNA for the alpha-1A-adrenergic receptor: the gene for which is located on human chromosome 5. J. Biol. Chem. 266: 6365-6369, 1991.
[0034739]25327.Schwinn, D. A.; Johnston, G. I.; Page, S. O.; Mosley, M. J.; Wilson, K. H.; Worman, N. P.; Campbell, S.; Fidock, M. D.; Furness, L. M.; Parry-Smith, D. J.; Peter, B.; Bailey, D. S.: Cloning and pharmacological characterization of human alpha-1 adrenergic receptors: sequence corrections and direct comparison with other species homologues. J. Pharm. Exp. Ther. 272: 134-142, 1995.
[0034740]25328.Schwinn, D. A.; Lomasney, J. W.: Pharmacologic characterization of cloned alpha-1-adrenoceptor subtypes: selective antagonists suggest the existence of a fourth subtype. Europ. J. Pharm. 227: 433-436, 1992.
[0034741]25329.Weinberg, D. H.; Trivedi, P.; Tan, C. P.; Mitra, S.; Perkins-Barrow, A.; Borkowski, D.; Strader, C. D.; Bayne, M.: Cloning, expression and characterization of human alpha adrenergic receptors alpha-1A, alpha-1B, and alpha-1C. Biochem. Biophys. Res. Commun. 201: 1296-1304, 1994.
[0034742]25330.Yang-Feng, T. L.; Han, H.; Lomasney, J. W.; Caron, M. G.: Localization of the cDNA for an alpha-1-adrenergic receptor subtype (ADRA1D) to chromosome band 20p13. Cytogenet. Cell Genet. 66: 170-171, 1994.
[0034743]25331.Markert, M. L.; Hershfield, M. S.; Wiginton, D. A.; States, J. C.; Ward, F. E.; Bigner, S. H.; Buckley, R. H.; Kaufman, R. E.; Hutton, J. J.: Identification of a deletion in the adenosine deaminase gene in a child with severe combined immunodeficiency. J. Immun. 138: 3203-3206, 1987.
[0034744]25332.Markert, M. L.; Hutton, J. J.; Wiginton, D. A.; States, J. C.; Kaufman, R. E.: Adenosine deaminase (ADA) deficiency due to deletion of the ADA gene promoter and first exon by homologous recombination between two Alu elements. J. Clin. Invest. 81: 1323-1327, 1988.
[0034745]25333.Markert, M. L.; Norby-Slycord, C.; Ward, F. E.: A high proportion of ADA point mutations associated with a specific alanine-to-valine substitution. Am. J. Hum. Genet. 45: 354-361, 1989.
[0034746]25334.Meuwissen, H. J.; Pollara, B.; Pickering, R. J.: Combined immunodeficiency disease associated with adenosine deaminase deficiency (report on a workshop held in Albany, New York, October 1, 1973). J. Pediat. 86: 169-181, 1975.
[0034747]25335.Migchielsen, A. A. J.; Breuer, M. L.; van Roon, M. A.; te Riele, H.; Zurcher, C.; Ossendorp, F.; Toutain, S.; Hershfield, M. S.; Berns, A.; Valerio, D.: Adenosine-deaminase-deficient mice die perinatally and exhibit liver-cell degeneration, atelectasis and small intestinal cell death. Nature Genet. 10: 279-287, 1995.
[0034748]25336.Mitchell, B. S.; Mejias, E.; Daddona, P. E.; Kelley, W. N.: Purinogenic immunodeficiency disease: selective toxicity of deoxyribonucleosides for T-cells. Proc. Nat. Acad. Sci. 75: 5011-5014, 1978.
[0034749]25337.Moen, R. C.; Horowitz, S. D.; Sondel, P. M.; Borcherding, W. R.; Trigg, M. E.; Billing, R.; Hong, R.: Immunologic reconstitution after haploidentical bone marrow transplantation for immune deficiency disorders: treatment of bone marrow cells with monoclonal antibody CT-2 and complement. Blood 70: 664-669, 1987.
[0034750]25338.Mohandas, T.; Sparkes, R. S.; Suh, E. J.; Hershfield, M. S.: Regional localization of the human genes for S-adenosylhomocysteine hydrolase (cen-q131) and adenosine deaminase (q131-qter) on chromosome 20. Hum. Genet. 66: 292-295, 1984.
[0034751]25339.Nielsen, K. B.; Tommerup, N.; Jespersen, B.; Nygaard, P.; Kleif, L.: Segregation of a t(3;20) translocation through three generations resulting in unbalanced karyotypes in six persons. J. Med. Genet. 23: 446-451, 1986.
[0034752]25340.Orkin, S. H.; Daddona, P. E.; Shewach, D. S.; Markham, A. F.; Bruns, G. A.; Goff, S. C.; Kelley, W. N.: Molecular cloning of human adenosine deaminase gene sequences. J. Biol. Chem. 258: 12753-12756, 1983.
[0034753]25341.Ozsahin, H.; Arredondo-Vega, F. X.; Santisteban, I.; Fuhrer, H.; Tuchschmid, P.; Jochum, W.; Aguzzi, A.; Lederman, H. M.; Fleischman, A.; Winkelstein, J. A.; Seger, R. A.; Hershfield, M. S.: Adenosine deaminase deficiency in adults. Blood 89: 2849-2855, 1997.
[0034754]25342.Onodera, M.; Ariga, T.; Kawamura, N.; Kobayashi, I.; Ohtsu, M.; Yamada, M.; Tame, A.; Furuta, H.; Okano, M.; Matsumoto, S.; Kotani, H.; McGarrity, G. J.; Blaese, R. M.; Sakiyama, Y.: Successful peripheral T-lymphocyte-directed gene transfer for a patient with severe combined immune deficiency caused by adenosine deaminase deficiency. Blood 91: 30-36, 1998.
[0034755]25343.Palmer, T. D.; Hock, R. A.; Osborne, W. R. A.; Miller, A. D.: Efficient retrovirusmediated transfer and expression of a human adenosine deaminase gene in diploid skin fibroblasts from an adenosine deaminase-deficient human. Proc. Nat. Acad. Sci. 84: 1055-1059, 1987.
[0034756]25344.Parkman, R.; Gelfand, E. W.; Rosen, F. S.; Sanderson, A.; Hirschhorn, R.: Severe combined immunodeficiency and adenosine deaminase deficiency. New Eng. J. Med. 292: 714-719, 1975.
[0034757]25345.Petersen, M. B.; Tranebjaerg, L.; Tommerup, N.; Nygaard, P.; Edwards, H.: New assignment of the adenosine deaminase gene locus to chromosome 20q13.11 by study of a patient with interstitial deletion 20q. J. Med. Genet. 24: 93-96, 1987.
[0034758]25346.Polmar, S. H.; Stern, R. C.; Schwartz, A. L.; Wetzler, E. M.; Chase, P. A.; Hirschhorn, R.: Enzyme replacement therapy for adenosine deaminase deficiency and severe combined immunodeficiency. New Eng. J. Med. 295: 1337-1343, 1976.
[0034759]25347.Ratech, H.; Greco, M. A.; Gallo, G.; Rimoin, D. L.; Kamino, H.; Hirschhorn, R.: Pathologic findings in adenosine-deaminase-deficient severe combined immunodeficiency. I. Kidney, adrenal, and chondro-osseous tissue alterations. Am. J. Path. 120: 157-169, 1985.
[0034760]25348.Ritter, H.; Wendt, G. G.; Tariverdian, G.; Zelch, J.; Rube, M.; Kirchberg, G.: Genetics and linkage analysis of adenosine deaminase. Humangenetik 14: 69-71, 1971.
[0034761]25349.Rogers, M. H.; Lwin, R.; Fairbanks, L.; Gerritsen, B.; Gaspar, H. B.: Cognitive and behavioral abnormalities in adenosine deaminase deficient severe combined immunodeficiency. J. Pediat. 139: 44-50, 2001.
[0034762]25350.Rothschild, C. B.; Akots, G.; Hayworth, R.; Pettenati, M. J.; Rao, P. N.; Wood, P.; Stolz, F.-M.; Hansmann, I.; Serino, K.; Keith, T. P.; Fajans, S. S.; Bowden, D. W.: A genetic map of chromosome 20q12-q13.1: multiple highly polymorphic microsatellite and RFLP markers linked to the maturity-onset diabetes of the young (MODY) locus. Am. J. Hum. Genet. 52: 110-123, 1993.
[0034763]25351.Rubinstein, A.; Hirschhorn, R.; Sicklick, M.; Murphy, R. A.: In vivo and in vitro effects of thymosin and adenosine deaminase on adenosine-deaminase-deficient lymphocytes. New Eng. J. Med. 300: 387-392, 1979.
[0034764]25352.Rudd, N. L.; Bain, H. W.; Giblett, E.; Chen, S.-H.; Worton, R. G.: Partial trisomy 20 confirmed by gene dosage studies. Am. J. Med. Genet. 4: 357-364, 1979.
[0034765]25353.Koch, G.; Shows, T. B.: Somatic cell genetics of adenosine deaminase expression and severe combined immune deficiency disease in man. Proc. Nat. Acad. Sci. 77: 4211-4215, 1980.
[0034766]25354.Gautam, M.; Noakes, P. G.; Moscoso, L.; Rupp, F.; Scheller, R. H.; Merlie, J. P.; Sanes, J. R.: Defective neuromuscular synaptogenesis in agrin-deficient mutant mice. Cell 85: 525-535, 1996.
[0034767]25355.Glass, D. J.; Bowen, D. C.; Stitt, T. N.; Radziejewski, C.; Bruno, J.; Ryan, T. E.; Gies, D. R.; Shah, S.; Mattsson, K.; Burden, S. J.; DiStefano, P. S.; Valenzuela, D. M.; DeChiara, T. M.; Yancopoulos, G. D.: Agrin acts via a MuSK receptor complex. Cell 85: 513-523, 1996.
[0034768]25356.Khan, A. A.; Bose, C.; Yam, L. S.; Soloski, M. J.; Rupp, F.: Physiological regulation of the immunological synapse by agrin. Science 292: 1681-1686, 2001.
[0034769]25357.Lin, W.; Burgess, R. W.; Dominguez, B.; Pfaff, S. L.; Sanes, J. R.; Lee, K.-F.: Distinct roles of nerve and muscle in postsynaptic differentiation of the neuromuscular synapse. Nature 410: 1057-1064, 2001.
[0034770]25358.McMahan, U. J.: The agrin hypothesis Cold Spring Harb. Symp. Quant. Biol. 50: 407-418, 1990.
[0034771]25359.Rupp, F.; Ozcelik, T.; Linial, M.; Peterson, K.; Francke, U.; Scheller, R.: Structure and chromosomal localization of the mammalian agrin gene. J. Neurosci. 12: 3535-3544, 1992.
[0034772]25360.Rupp, F.; Payan, D. G.; Magill-Solc, C.; Cowan, D. M.; Scheller, R. H.: Structure and expression of a rat agrin. Neuron 6: 811-823, 1991.
[0034773]25361.D'Alfonso, S.; Richiardi, P. M.: A polymorphic variation in a putative regulation box of the TNFA promoter region. Immunogenetics 39: 150-154, 1994.
[0034774]25362.Mietus-Snyder, M.; Charmley, P.; Korf, B.; Ladias, J. A. A.: Gatti, R. A. and Karathanasis, S. K.: Genetic linkage of the human apolipoprotein AI-CIII-AIV gene cluster and the neural cell adhesion molecule (NCAM) gene. Genomics 7: 633-637, 1990.
[0034775]25363.Mietus-Snyder, M.; Korf, B.; Ladias, J. A.; Karathanasis, S. K. : Linkage of the human apolipoproteins A1, C3, A4 and the neural cell adhesion molecule (NCAM) genes. (Abstract) Cytogenet. Cell Genet. 51: 1044 only, 1989.
[0034776]25364.Nguyen, C.; Mattei, M. G.; Goridis, C.; Mattei, J. F.; Jordan, B. R.: Localization of the human N-CAM gene to chromosome 11 by in situ hybridization with a murine N-CAM cDNA probe. (Abstract) Cytogenet. Cell Genet. 40: 713 only, 1985.
[0034777]25365.Nguyen, C.; Mattei, M. G.; Mattei, J.-F.; Santoni, M.-J.; Goridis, C.; Jordan, B. R.: Localization of the human NCAM gene to band q23 of chromosome 11: the third gene coding for a cell interaction molecule mapped to the distal portion of the long arm of chromosome 11. J. Cell Biol. 102: 711-715, 1986.
[0034778]25366.Rabinowitz, J. E.; Rutishauser, U.; Magnuson, T.: Targeted mutation of Ncam to produce a secreted molecule results in a dominant embryonic lethality. Proc. Nat. Acad. Sci. 93: 6421-6424, 1996.
[0034779]25367.Rutishauser, U.; Acheson, A.; Hall, A. K.; Mann, D. M.; Sunshine, J.: The neural cell adhesion molecule (NCAM) as a regulator of cell-cell interactions. Science 240: 53-57, 1988.
[0034780]25368.Rutishauser, U.; Goridis, C.: NCAM: the molecule and its genetics. Trends Genet. 2: 72-76, 1986.
[0034781]25369.Telatar, M.; Lange, E.; Uhrhammer, N.; Gatti, R. A.: New localization of NCAM, proximal to DRD2 at chromosome 11q23. Mammalian Genome 6: 59-60, 1995.
[0034782]25370.Durbin, H.; Novelli, M.; Bodmer, W.: Detection of a 4-bp insertion (CACA) functional polymorphism at nucleotide 241 of the cellular adhesion regulatory molecule CMAR (formerly CAR). Genomics 19: 181-182, 1994.
[0034783]25371.Koyama, K.; Emi, M.; Nakamura, Y.: The cell adhesion regulator (CAR) gene, TaqI and insertion/deletion polymorphisms, and regional assignment to the peritelomeric region of 16q by linkage analysis. Genomics 16: 264-265, 1993.
[0034784]25372.Pullman, W. E.; Bodmer, W. F.: Cloning and characterization of a gene that regulates cell adhesion. Nature 356: 529-532, 1992.
[0034785]25373.Agellon, L. B.; Drover, V. A. B.; Cheema, S. K.; Gbaguidi, G. F.; Walsh, A.: Dietary cholesterol fails to stimulate the human cholesterol 7-alpha-hydroxylase gene (CYP7A1) in transgenic mice. J. Biol. Chem. 277: 20131-20134, 2002.
[0034786]25374.Angelin, B.; Einarsson, K.; Hellstrom, K.; Leijd, B.: Bile acid kinetics in relation to endogenous triglyceride metabolism in various types of hyperlipoproteinemia. J. Lipid Res. 19: 1004-1016, 1978.
[0034787]25375.Angelin, B.; Hershon, K. S.; Brunzell, J. D.: Bile acid metabolism in hereditary forms of hypertriglyceridemia: evidence for an increased synthesis rate in monogenic familial hypertriglyceridemia. Proc. Nat. Acad. Sci. 84: 5434-5438, 1987.
[0034788]25376.Cohen, J. C.; Cali, J. J.; Jelinek, D. F.; Mehrabian, M.; Sparkes, R. S.; Lusis, A. J.; Russell, D. W.; Hobbs, H. H.: Cloning of the human cholesterol 7-alpha-hydroxylase gene (CYP7) and localization to chromosome 8q11-q12. Genomics 14: 153-161, 1992.
[0034789]25377.Drover, V. A. B.; Wong, N. C. W.; Agellon, L. B.: A distinct thyroid hormone response element mediates repression of the human cholesterol 7-alpha-hydroxylase (CYP7A1) gene promoter. Molec. Endocr. 16: 14-23, 2002.
[0034790]25378.Goodwin, B.; Jones, S. A.; Price, R. R.; Watson, M. A.; McKee, D. D.; Moore, L. B.; Galardi, C.; Wilson, J. G.; Lewis, M. C.; Roth, M. E.; Maloney, P. R.; Willson, T. M.; Kliewer, S. A.: A regulatory cascade of the nuclear receptors FXR, SHP-1, and LRH-1 represses bile acid biosynthesis. Molec. Cell 6: 517-526, 2000.
[0034791]25379.Molowa, D. T.; Chen, W. S.; Cimis, G. M.; Tan, C. P.: Transcriptional regulation of the human cholesterol 7 alpha-hydroxylase gene. Biochemistry 31: 2539-2544, 1992.
[0034792]25380.Nitta, M.; Ku, S.; Brown, C.; Okamoto, A. Y.; Shan, B.: CPF: an orphan nuclear receptor that regulates liver-specific expression of the human cholesterol 7-alpha-hydroxylase gene. Proc. Nat. Acad. Sci. 96: 6660-6665, 1999.
[0034793]25381.Noshiro, M.; Okuda, K.: Molecular cloning and sequence analysis of cDNA encoding human cholesterol 7 alpha-hydroxylase. FEBS Lett. 268: 137-140, 1990.
[0034794]25382.Paumgartner, G.; Sauerbruch, T.: Gallstones: pathogenesis. Lancet 338: 1117-1121, 1991.
[0034795]25383.Wang, J.; Freeman, D. J.; Grundy, S. M.; Levine, D. M.; Guerra, R.; Cohen, J. C.: Linkage between cholesterol 7-alpha-hydroxylase and high plasma low-density lipoprotein cholesterol concentrations. J. Clin. Invest. 101: 1283-1291, 1998.
[0034796]25384.Gress, C. J.; Jacenko, O.: Growth plate compressions and altered hematopoiesis in collagen X null mice. J. Cell Biol. 149: 983-993, 2000.
[0034797]25385.Hasegawa, T.; Kozlowski, K.; Nishimura, G.; Hara, H.; Hasegawa, Y.; Aso, T.; Koto, S.; Nagai, T.; Tsuchiya, Y.: Japanese type of spondylo-metaphyseal dysplasia. Pediat. Radiol. 24: 194-197, 1994.
[0034798]25386.Ikegawa, S.; Nakamura, K.; Nagano, A.; Haga, N.; Nakamura, Y.: Mutations in the Nterminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia. Hum. Mutat. 9: 131-135, 1997.
[0034799]25387.Ikegawa, S.; Nishimura, G.; Nagai, T.; Hasegawa, T.; Ohashi, H.; Nakamura, Y.: Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia. Am. J. Hum. Genet. 63: 1659-1662, 1998.
[0034800]25388.Kirsch, T.; von der Mark, K.: Isolation of human type X collagen and immunolocalization in fetal human cartilage. Europ. J. Biochem. 196: 575-580, 1991.
[0034801]25389.Kuivaniemi, H.; Tromp, G.; Prockop, D. J.: Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels. Hum. Mutat. 9: 300-315, 1997.
[0034802]25390.McIntosh, I.; Abbot, M. H.; Francomano, C. A.: Concentration of mutations causing Schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagen. Hum. Mut. 5: 121-125, 1995.
[0034803]25391.McIntosh, I.; Abbot, M. H.; Warman, M. L.; Olsen, B. R.; Francomano, C. A.: Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus. Hum. Molec. Genet. 3: 303-307, 1994.
[0034804]25392.Nielsen, V. H.; Bendixen, C.; Arnbjerg, J.; Sorensen, C. M.; Jensen, H. E.; Shukri, N. M.; Thomsen, B.: Abnormal growth plate function in pigs carrying a dominant mutation in type X collagen. Mammalian Genome 11: 1087-1092, 2000.
[0034805]25393.Pokharel, R. K.; Alimsardjono, H.; Uno, K.; Fujii, S.; Shiba, R.; Matsuo, M.: A novel mutation substituting tryptophan with arginine in the carboxyl-terminal, noncollagenous domain of collagen X in a case of Schmid metaphyseal chondrodysplasia. Biochem. Biophys. Res. Commun. 217: 1157-1162, 1995.
[0034806]25394.Rosati, R.; Horan, G. S. B.; Pinero, G. J.; Garofalo, S.; Keene, D. R.; Horton, W. A.; Vuorio, E.; de Crombrugghe, B.; Behringer, R. R.: Normal long bone growth and development in type X collagen-null mice. Nature Genet. 8: 129-135, 1994.
[0034807]25395.Sawai, H.; Ida, A.; Nakata, Y.; Koyama, K.: Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia. J. Hum. Genet. 43: 259-261, 1998.
[0034808]25396.Schmid, T. M.; Linsenmayer, T. F.: Immunohistochemical localization of short chain cartilage collagen (type X) in avian tissues. J. Cell Biol. 100: 598-605, 1985.
[0034809]25397.Stratakis, C. A.; Orban, Z.; Burns, A. L.; Vottero, A.; Mitsiades, C. S.; Marx, S. J.; Abbassi, V.; Chrousos, G. P.: Dideoxyfingerprinting (ddF) analysis of the type X collagen gene (COL10A1) and identification of a novel mutation (S671P) in a kindred with Schmid metaphyseal chondrodysplasia. Biochem. Molec. Med. 59: 112-117, 1996.
[0034810]25398.Sweetman, W. A.; Rash, B.; Sykes, B.; Beighton, P.; Hecht, J. T.; Zabel, B.; Thomas, J. T.; Boot-Handford, R.; Grant, M. E.; Wallis, G. A.: SSCP and segregation analysis of the human type X collagen gene (COL10A1) in heritable forms of chondrodysplasia. Am. J. Hum. Genet. 51: 841-849, 1992.
[0034811]25399.Thomas, J. T.; Cresswell, C. J.; Rash, B.; Hoyland, J.; Freemont, A. J.; Grant, M. E.; Boot-Handford, R. P.: The human collagen X gene: complete primary sequence and reexpression in osteoarthritis. Biochem. Soc. Trans. 19: 804-808, 1991.
[0034812]25400.Thomas, J. T.; Cresswell, C. J.; Rash, B.; Nicolai, H.; Jones, T.; Solomon, E.; Grant, M. E.; Boot-Handford, R. P.: The human collagen X gene: complete primary translated sequence and chromosomal localization. Biochem. J. 280: 617-623, 1991.
[0034813]25401.Wallis, G. A.; Rash, B.; Sweetman, W. A.; Thomas, J. T.; Super, M.; Evans, G.; Grant, M. E.; Boot-Handford, R. P.: Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the alpha-I(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid. Am. J. Hum. Genet. 54: 169-178, 1994.
[0034814]25402.Haefliger, J.-A.; Bruzzone, R.; Jenkins, N. A.; Gilbert, D. J.; Copeland, N. G.; Paul, D. L.: Four novel members of the connexin family of gap junction proteins: molecular cloning, expression, and chromosome mapping. J. Biol. Chem. 267: 2057-2064, 1992.
[0034815]25403.Hsieh, C.-L.; Kumar, N. M.; Gilula, N. B.; Francke, U.: Distribution of genes for gap junction membrane channel proteins on human and mouse chromosomes. Somat. Cell Molec. Genet. 17: 191-200, 1991.
[0034816]25404.Hattersley, A. T.; Beards, F.; Ballantyne, E.; Appleton, M.; Harvey, R.; Ellard, S.: Mutations in the glucokinase gene of the fetus result in reduced birth weight. Nature Genet. 19: 268-270, 1998.
[0034817]25405.McCarthy, M.: Weighing in on diabetes risk. Nature Genet. 19: 209-210, 1998.
[0034818]25406.Neel, J. V.: Diabetes mellitus: a 'thrifty' genotype rendered detrimental by 'progress'? Am. J. Hum. Genet. 14: 353-362, 1962.
[0034819]25407.Spielman, R. S.; McGinnis, R. E.; Ewens, W. J.: Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am. J. Hum. Genet. 52: 506-516, 1993.
[0034820]25408.Altshuler, D.; Hirschhorn, J. N.; Klannemark, M.; Lindgren, C. M.; Vohl, M.-C.; Nemesh, J.; Lane, C. R.; Schaffner, S. F.; Bolk, S.; Brewer, C.; Tuomi, T.; Gaudet, D.; Hudson, T. J.; Daly, M.; Groop, L.; Lander, E. S.: The common PPAR-gamma pro12ala polymorphism is associated with decreased risk of type 2 diabetes. Nature Genet. 76-80, 2000.
[0034821]25409.DeStefano, A. L.; Baldwin, C. T.; Burzstyn, M.; Gavras, I.; Handy, D. E.; Joost, O.; Martel, T.; Nicolaou, M.; Schwartz, F.; Streeten, D. H. P.; Farrer, L. A.; Gavras, H.: Autosomal dominant orthostatic hypotensive disorder maps to chromosome 18q. Am. J. Hum. Genet. 63: 1425-1430, 1998.
[0034822]25410.Zneimer, S. M.; Womack, J. E.: Regional localization of the fibronectin and gamma crystallin genes to mouse chromosome 1 by in situ hybridization. Cytogenet. Cell Genet. 48: 238-241, 1988.
[0034823]25411.den Dunnen, J. T.; Moormann, R. J. M.; Cremers, F. P. M.; Schoenmakers, J. G. G.: Two human gamma-crystallin genes are linked and riddled with Alu-repeats. Gene 38: 197-204, 1985.
[0034824]25412.Daniels, G.; King, M.-J.; Avent, N. D.; Khalid, G.; Reid, M.; Mallinson, G.; Symthe, J.; Cedergren, B.: A point mutation in the GYPC gene results in the expression of the blood group An(a) antigen on glycophorin D but not on glycophorin C: further evidence that glycophorin D is a product of the GYPC gene. Blood 82: 3198-3203, 1993.
[0034825]25413.El-Maliki, B.; Blanchard, D.; Dahr, W.; Beyreuther, K.; Cartron, J.-P.: Structural homology between glycophorins C and D of human erythrocytes. Europ. J. Biochem. 183: 639-643, 1989.
[0034826]25414.Jorgensen, J.; Drachmann, O.; Gavin, J.: Duch, Dh(a), a low frequency red cell antigen. Hum. Hered. 32: 73-75, 1982.
[0034827]25415.King, M. J.; Avent, N. D.; Mallinson, G.; Reid, M. E.: Point mutation in the glycophorin C gene results in the expression of the blood group antigen Dh(a). Vox Sang. 63: 56-58, 1992.
[0034828]25416.Le Van Kim, C.; Colin, Y.; Blanchard, D.; Dahr, W.; London, J.; Cartron, J.-P.: Gerbich blood group deficiency of the Ge:-1,-2,-3 and Ge:-1,-2,3 types: immunochemical study and genomic analysis with cDNA probes. Europ. J. Biochem. 165: 571-579, 1987.
[0034829]25417.Mattei, M. G.; Colin, Y.; Le Van Kim, C.; Mattei, J. F.; Cartron, J. P.: Localization of the gene for human erythrocyte glycophorin C to chromosome 2, q14-q21. Hum. Genet. 74: 420-422, 1986.
[0034830]25418.Pasvol, G.; Anstee, D. J.; Tanner, M. J. A.: Glycophorin C and the invasion of red cells by Plasmodium falciparum. Lancet I: 907-908, 1984.
[0034831]25419.Race, R. R.; Sanger, R.: Blood Groups in Man. Oxford: Blackwell Sci. Publ. (pub.) (6th ed.): 1975. Pp. 416-421.
[0034832]25420.Reid, M. E.: The Gerbich blood group antigens: a review. Med. Lab. Sci. 43: 177-182, 1972.
[0034833]25421.Reid, M. E.; Sullivan, C.; Taylor, M.; Anstee, D. J.: Inheritance of human-erythrocyte Gerbich blood group antigens. Am. J. Hum. Genet. 41: 1117-1123, 1987.
[0034834]25422.Simmons, R. T.; Albrey, J. A.: A 'new' blood group antigen Webb (Wb) of low frequency found in two Australian families. Med. J. Aust. I: 8-10, 1963.
[0034835]25423.Sondag, D.; Alloisio, N.; Blanchard, D.; Ducluzeau, M.-T.; Colonna, P.; Bachir, D.; Bloy, C.; Cartron, J.-P.; Delaunay, J.: Gerbich reactivity in 4.1(-) hereditary elliptocytosis and protein 4.1 level in blood group Gerbich deficiency. Brit. J. Haemat. 65: 43-50, 1987.
[0034836]25424.Spring, F. A.: Immunochemical characterisation of the low-incidence antigen, Dh(a). Vox Sang. 61: 65-68, 1991.
[0034837]25425.Telen, M. J.; Le Van Kim, C.; Guizzo, M. L.; Cartron, J.-P.; Colin, Y.: Erythrocyte Webb-type glycophorin C variant lacks N-glycosylation due to an asparagine to serine substitution. Am. J. Hemat. 37: 51-52, 1991.
[0034838]25426.Winardi, R.; Reid, M.; Conboy, J.; Mohandas, N.: Molecular analysis of glycophorin C deficiency in human erythrocytes. Blood 81: 2799-2803, 1993.
[0034839]25427.Bierhuizen, M. F. A.; Mattei, M.-G.; Fukuda, M.: Expression of the developmental I antigen by a cloned human cDNA encoding a member of a beta-1,6-N-acetylglucosaminyltransferase gene family. Genes Dev. 7: 468-478, 1993.
[0034840]25428.Lin-Chu, M.; Broadberry, R. E.; Okubo, Y.; Tanaka, M.: The i phenotype and congenital cataracts among Chinese in Taiwan (Letter) Transfusion 31: 676-677, 1991.
[0034841]25429.Ogata, H.; Okubo, Y.; Akabane, T.: Phenotype i associated with congenital cataract in Japanese. Transfusion 19: 166-168, 1979.
[0034842]25430.Yeh, J.-C.; Ong, E.; Fukuda, M.: Molecular cloning and expression of a novel beta-1,6-N-acetylglucosaminyltransferase that forms core 2, core 4, and I branches. J. Biol. Chem. 274: 3215-3221, 1999.
[0034843]25431.Yu, L.-C.; Twu, Y.-C.; Chang, C.-Y.; Lin, M.: Molecular basis of the adult i phenotype and the gene responsible for the expression of the human blood group I antigen. Blood 98: 3840-3845, 2001.
[0034844]25432.Allen, F. H., Jr.; Krabbe, S. M.; Corcoran, P. A.: A new phenotype (McLeod) in the Kell blood-group system. Vox Sang. 6: 555-560, 1961.
[0034845]25433.Avent, N. D.; Martin, P. G.: Kell typing by allele-specific PCR (ASP). Brit. J. Haemat. 93: 728-730, 1996.
[0034846]25434.Chown, B.; Lewis, M.; Kaita, K.: A 'new' Kell blood-group phenotype. Nature 180: 711 only, 1957.
[0034847]25435.Conneally, P. M.; Nance, W. E.; Huntzinger, R. S.: Linkage analysis of Kell-Sutter and PTC loci. (Abstract) Am. J. Hum. Genet. 26: 22A only, 1974.
[0034848]25436.Abdelhak, S.; Kalatzis, V.; Heilig, R.; Compain, S.; Samson, D.; Vincent, C.; Weil, D.; Cruaud, C.; Sahly, I.; Leibovici, M.; Bitner-Glindzicz, M.; Francis, M.; Lacombe, D.; Vigneron, J.; Charachon, R.; Boven, K.; Bedbeder, P.; Van Regemorter, N.; Weissenbach, J.; Petit, C.: A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nature Genet. 15: 157-164, 1997.
[0034849]25437.Tommerup, N.; Schempp, W.; Meinecke, P.; Pedersen, S.; Bolund, L.; Brandt, C.; Goodpasture, C.; Guldberg, P.; Held, K.; Reinwein, H.; Saugstad, O. D.; Scherer, G.; Skjeldal, O.; Toder, R.; Westvik, J.; van der Hagen, C. B.; Wolf, U.: Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1. Nature Genet. 4: 170-174, 1993.
[0034850]25438.Phillips, D. J.; Albertsson-Wikland, K.; Eriksson, K.; Wide, L. : Changes in the isoforms of luteinizing hormone and follicle-stimulating hormone during puberty in normal children. J. Clin. Endocr. Metab. 82: 3103-3106, 1997.
[0034851]25439.Anderson, M. J.; Shelton, G. D.; Cavenee, W. K.; Arden, K. C.: Embryonic expression of the tumor-associated PAX3-FKHR fusion protein interferes with the developmental functions of Pax3. Proc. Nat. Acad. Sci. 98: 1589-1594, 2001.
[0034852]25440.Anderson, M. J.; Viars, C. S.; Czekay, S.; Cavenee, W. K.; Arden, K. C.: Cloning and characterization of three human forkhead genes that comprise an FKHR-like gene subfamily. Genomics 47: 187-199, 1998.
[0034853]25441.Barr, F. G.; Galili, N.; Holick, J.; Biegel, J. A.; Rovera, G.; Emanuel, B. S.: Rearrangement of the PAX3 paired box gene in the paediatric solid tumor alveolar rhabdomyosarcoma. Nature Genet. 3: 113-117, 1993.
[0034854]25442.Davis, R. J.; Barr, F. G.: Fusion genes resulting from alternative chromosomal translocations are overexpressed by gene-specific mechanisms in alveolar rhabdomyosarcoma. Proc. Nat. Acad. Sci. 94: 8047-8051, 1997.
[0034855]25443.Fredericks, W. J.; Galili, N.; Mukhopadhyay, S.; Rovera, G.; Bennicelli, J.; Barr, F. G.; Rauscher, F. J., III: The PAX3-FKHR fusion protein created by the t(2;13) translocation in alveolar rhabdomyosarcomas is a more potent transcriptional activator than PAX3. Molec. Cell. Biol. 15: 1522-1535, 1995.
[0034856]25444.Galili, N.; Davis, R. J.; Fredericks, W. J.; Mukhopadhyay, S.; Rauscher, F. J., III; Emanuel, B. S.; Rovera, G.; Barr, F. G.: Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma. Nature Genet. 5: 230-235, 1993.
[0034857]25445.Khan, J.; Bittner, M. L.; Saal, L. H.; Teichmann, U.; Azorsa, D. O.; Gooden, G. C.; Pavan, W. J.; Trent, J. M.; Meltzer, P. S.: cDNA microarrays detect activation of a myogenic transcription program by the PAX3-FKHR fusion oncogene. Proc. Nat. Acad. Sci. 96: 13264-13269, 1999.
[0034858]25446.Lahat, H.; Pras, E.; Olender, T.; Avidan, N.; Ben-Asher, E.; Man, O.; Levy-Nissenbaum, E.; Khoury, A.; Lorber, A.; Goldman, B.; Lancet, D.; Eldar, M.: A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel. Am. J. Hum. Genet. 69: 1378-1384, 2001.
[0034859]25447.Viskin, S.; Belhassen, B.: Polymorphic ventricular tachyarrhythmias in the absence of organic heart disease: classification, differential diagnosis, and implication for therapy. Prog. Cardiovas. Dis. 41: 17-34, 1998.
[0034860]25448.Angle, C. R.: Congenital bowing and angulation of the long bones. Pediatrics 13: 257-268, 1954.
[0034861]25449.Bain, A. D.; Barrett, H. S.: Congenital bowing of the long bones: report of a case. Arch. Dis. Child. 34: 516-524, 1959.
[0034862]25450.Bell, D. M.; Leung, K. K. H.; Wheatley, S. C.; Ng, L. J.; Zhou, S.; Ling, K. W.; Sham, M. H.; Koopman, P.; Tam, P. P. L.; Cheah, K. S. E.: SOX9 directly regulates the type-II collagen gene. Nature Genet. 16: 174-178, 1997.
[0034863]25451.Bi, W.; Huang, W.; Whitworth, D. J.; Deng, J. M.; Zhang, Z.; Behringer, R. R.; de Crombrugghe, B.: Haploinsufficiency of Sox9 results in defective cartilage primordia and premature skeletal mineralization. Proc. Nat. Acad. Sci. 98: 6698-6703, 2001.
[0034864]25452.Bishop, C. E.; Whitworth, D. J.; Qin, Y.; Agoulnik, A. I.; Agoulnik, I. U.; Harrison, W. R.; Behringer, R. R.; Overbeek, P. A.: A transgenic insertion upstream of Sox9 is associated with dominant XX sex reversal in the mouse. Nature Genet. 26: 490-494, 2000.
[0034865]25453.Caffey, J. P.: Prenatal bowing and thickening of tubular bones, with multiple cutaneous dimples in arms and legs: a congenital syndrome of mechanical origin. Am. J. Dis. Child. 74: 543-562, 1947.
[0034866]25454.Cameron, F. J.; Hageman, R. M.; Cooke-Yarborough, C.; Kwok, C.; Goodwin, L. L.; Sillence, D. O.; Sinclair, A. H.: A novel germ line mutation in SOX9 causes familial campomelic dysplasia and sex reversal. Hum. Molec. Genet. 5: 1625-1630, 1996.
[0034867]25455.Cameron, F. J.; Sinclair, A. H.: Mutations in SRY and SOX9: testis-determining genes. Hum. Mutat. 9: 388-395, 1997.
[0034868]25456.Cooke, C. T.; Mulcahy, M. T.; Cullity, G. J.; Watson, M.; Sprague, P.: Campomelic dysplasia with sex reversal: morphological and cytogenetic studies of a case. Pathology 17: 526-529, 1985.
[0034869]25457.Cremin, B. J.; Orsmond, G.; Beighton, P.: Autosomal recessive inheritance in camptomelic dwarfism.(Letter) Lancet I: 488-489, 1973.
[0034870]25458.Dagna Bricarelli, F.; Fraccaro, M.; Lindsten, J.; Muller, U.; Baggio, P.; Carbone, L. D. L.; Hjerpe, A.; Lindgren, F.; Mayerova, A.; Ringertz, H.; Ritzen, E. M.; Rovetta, D. C.; Sicchero, C.; Wolf, U.: Sex-reversed XY females with campomelic dysplasia are H-Y negative. Hum. Genet. 57: 15-22, 1981.
[0034871]25459.Ebensperger, C.; Jager, R. J.; Lattermann, U.; Dagna Bricarelli, F.; Keutel, J.; Lindsten, J.; Rehder, H.; Muller, U.; Wolf, U.: No evidence of mutations in four candidate genes for male sex determination/differentiation in sex-reversed XY females with campomelic dysplasia. Ann. Genet. 34: 233-238, 1991.
[0034872]25460.Fontaine, G.; Walbaum, R.; Farriaux, J. P.; Tilmont, P.; Peuzin, F.; Delecour, M.: Le conseil genetique dans la dysplasie campomelique (a propos de deux observations). J. Genet. Hum. 28: 267-279, 1980.
[0034873]25461.Foster, J. W.; Dominguez-Steglich, M. A.; Guioli, S.; Kwok, C.; Weller, P. A.; Stevanovic, M.; Weissenbach, J.; Mansour, S.; Young, I. D.; Goodfellow, P. N.; Brook, J. D.; Schafer, A. J.: Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature 372: 525-530, 1994.
[0034874]25462.Friedrich, U.; Schaefer, E.; Meinecke, P.: Campomelic dysplasia without overt campomelia. Clin. Dysmorph. 1: 172-178, 1992.
[0034875]25463.Gasca, S.; Canizares, J.; de Santa Barbara, P.; Mejean, C.; Poulat, F.; Berta, P.; Boizet-Bonhoure, B.: A nuclear export signal within the high mobility group domain regulates the nucleocytoplasmic translocation of SOX9 during sexual determination. Proc. Nat. Acad. Sci. 99: 11199-11204, 2002.
[0034876]25464.Glass, R. B. J.; Rosenbaum, K. N.: Acampomelic campomelic dysplasia: further radiographic variations. Am. J. Med. Genet. 69: 29-32, 1997.
[0034877]25465.Hall, B.; Spranger, J. W.: Campomelic dysplasia: further elucidation of a distinct entity. Am. J. Dis. Child. 134: 285-289, 1980.
[0034878]25466.Hoefnagel, D.; Wurster-Hill, D. H.; Dupree, W. B.; Benirschke, K.; Fuld, G. L.: Camptomelic dwarfism associated with XY-gonadal dysgenesis and chromosome anomalies. Clin. Genet. 13: 489-499, 1978.
[0034879]25467.Houston, C. S.; Opitz, J. M.; Spranger, J. W.; Macpherson, R. I.; Reed, M. H.; Gilbert, E. F.; Herrmann, J.; Schinzel, A.: The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971. Am. J. Med. Genet. 15: 3-28, 1983.
[0034880]25468.Hovmoller, M. L.; Osuna, A.; Eklof, O.; Fredga, K.; Hjerpe, A.; Lindsten, J.; Ritzen, M.; Stanescu, V.; Svenningsen, N.: Camptomelic dwarfism. A genetically determined mesenchymal disorder combined with sex reversal. Hereditas 86: 51-62, 1977.
[0034881]25469.Huang, W.; Chung, U.; Kronenberg, H. M.; de Crombrugghe, B.: The chondrogenic transcription factor Sox9 is a target of signaling by the parathyroid hormone-related peptide in the growth plate of endochondral bones. Proc. Nat. Acad. Sci. 98: 160-165, 2001.
[0034882]25470.Kanai, Y.; Koopman, P.: Structural and functional characterization of the mouse Sox9 promoter: implications for campomelic dysplasia. Hum. Molec. Genet. 8: 691-696, 1999.
[0034883]25471.Medema, R. H.; Kops, G. J. P. L.; Bos, J. L.; Burgering, B. M. T.: AFX-like forkhead transcription factors mediate cell-cycle regulation by Ras and PKB through p27(kip1). Nature 404: 782-787, 2000.
[0034884]25472.Eicher, E. M.; Womack, J. E.: Chromosomal location of soluble glutamic-pyruvic transaminase-1 (Gpt-1) in the mouse. Biochem. Genet. 15: 1-8, 1977.
[0034885]25473.Falk, C. T.; Huss, J.: Linkage data on the chromosome 16 markers HP and PGP: no additional support for or against the mapping of GPT. (Abstract) Cytogenet. Cell Genet. 40: 626 only, 1985.
[0034886]25474.Ferrell, R. E.: Personal Communication. Pittsburgh, Pa. 1/22/1988.
[0034887]25475.Jeremiah, S. J.; Kielty, C.; Povey, S.; McLellan, T.: Immunological characterization of human GPT in hybrids supports assignment to chromosome 8.(Abstract) Cytogenet. Cell Genet. 37: 498 only, 1984.
[0034888]25476.Kalimanovska, V.; Majkic-Singh, N.; Stojanov, M.; Grozdanic, V.; Vucetic, G.; Andelic, M.; Gligorovic, V.; Tomasevic, R.: Human red cell glutamic-pyruvic transaminase polymorphism in Serbia, Yugoslavia. Hum. Hered. 33: 319-321, 1983.
[0034889]25477.Kielty, C. M.; Povey, S.; Hopkinson, D. A.: Regulation of expression of liver-specific enzymes: II. Activation and chromosomal localization of soluble glutamate-pyruvate transaminase. Ann. Hum. Genet. 46: 135-143, 1982.
[0034890]25478.King, M.-C.; Go, R. C. P.; Elston, R. C.; Lynch, H. T.; Petrakis, N. L.: Allele increasing susceptibility to human breast cancer may be linked to the glutamate-pyruvate transaminase locus. Science 208: 406-408, 1980.
[0034891]25479.Kompf, J.: Population genetics of soluble glutamic-pyruvic transaminase (EC:2.6.1.2): gene frequencies in southwestern Germany. Humangenetik 14: 76-77, 1971.
[0034892]25480.Lahav, M.; Szeinberg, A.: A red-cell glutamic-pyruvic transaminase polymorphism in several population groups in Israel. Hum. Hered. 22: 533-538, 1972.
[0034893]25481.Marazita, M. L.; Spence, M. A.; Sparkes, R. S.; Field, L. L.; Crandall, B. F.; Sparkes, M. C.; Crist, M.: Linkage relations of GPT (glutamic-pyruvate transaminase). (Abstract) Cytogenet. Cell Genet. 40: 690 only, 1985.
[0034894]25482.McLellan, T.: Two previously undetected variants of glutamic-pyruvic transaminase found by acidic polyacrylamide gel electrophoresis. Am. J. Hum. Genet. 34: 623-628, 1982.
[0034895]25483.McLellan, T.; Cannon, L. A.; Bishop, D. T.; Skolnick, M. H.: The cumulative lod score between a breast cancer susceptibility locus and GPT is -3.86. (Abstract) Cytogenet. Cell Genet. 37: 536-537, 1984.
[0034896]25484.Mithal, Y.; Lane, A. B.; Jenkins, T.: Absence of red cell glutamic-pyruvate transaminase: discovery of a 'silent' allele homozygote. Am. J. Hum. Genet. 32: 42-46, 1980.
[0034897]25485.O'Connell, P.; Nakamura, Y.; Lathrop, G. M.; Leppert, M.; Cartwright, P.; Lalouel, J.-M.; White, R.: Three genetic linkage groups on chromosome 8. (Abstract) Cytogenet. Cell Genet. 46: 672 only, 1987.
[0034898]25486.Olaisen, B.: Genetics of the GPT system: family, mother-child and association studies. Clin. Genet. 7: 245-254, 1975.
[0034899]25487.Pelzer, C. F.; Norum, R. A.: Identification of human red cell glutamate-pyruvate transaminase (GPT) phenotypes by isoelectric focusing. Am. J. Hum. Genet. 37: 147-152, 1985.
[0034900]25488.Rocha, J.; Amorim, A.; Almeida, V. M.; Oliveira, J. P.; Leao, M.; Tavares, M. C.; Pereira, M. S.; Vidal-Pinheiro, L.: Gene dosage evidence for the regional assignment of GPT (glutamatepyruvate transaminase; E.C. 2.6.1.2) locus to 8q24.2-8qter. Hum. Genet. 80: 299-300, 1988.
[0034901]25489.Sanders, M. F.; King, M. C.; Lattanzio, D.; Crandall, J.; Leung, R.: Absence of linkage between HP and GPT. (Abstract) Cytogenet. Cell Genet. 37: 536-537, 1984.
[0034902]25490.Santachiara Benerecetti, A. S.; Beretta, M.; Pampiglione, S.: Red cell glutamic-pyruvic transaminase polymorphism in a sample of the Italian population: a new variant allele: GPT(8). Hum. Hered. 25: 276-278, 1975.
[0034903]25491.Sohocki, M. M.; Sullivan, L. S.; Harrison, W. R.; Sodergren, E. J.; Elder, F. F. B.; Weinstock, G.; Tanase, S.; Daiger, S. P.: Human glutamate pyruvate transaminase (GPT): localization to 8q24.3, cDNA and genomic sequences, and polymorphic sites. Genomics 40: 247-252, 1997.
[0034904]25492.Sparkes, M. C.; Crist, M.; Sparkes, R. S.: Glutamate pyruvate transaminase null allele in seven new families. Hum. Genet. 65: 147-148, 1983.
[0034905]25493.Wijnen, L. M. M.; Meera Khan, P.: Assignment of GPT to human chromosome 16. (Abstract) Cytogenet. Cell Genet. 32: 327 only, 1982.
[0034906]25494.Cremonini, N.; Graziano, E.; Chiarini, V.; Sforza, A.; Zampa, G. A.: Atypical McCune-Albright syndrome associated with growth hormone-prolactin pituitary adenoma: natural history, long-term follow-up, and SMS 201-995--bromocriptine combined treatment results. J. Clin. Endocr. Metab. 75: 1166-1169, 1992.
[0034907]25495.DeChiara, T.; Robertson, E. J.; Efstratiadis, A.: Parental imprinting of the mouse insulin-like growth factor II gene. Cell 64: 849-859, 1991.
[0034908]25496.Eddy, M. C.; Jan de Beur, S. M.; Yandow, S. M.; McAlister, W. H.; Shore, E. M.; Kaplan, F. S.; Whyte, M. P.; Levine, M. A.: Deficiency of the alpha-subunit of the stimulatory G protein and severe extraskeletal ossification. J. Bone Miner. Res. 15: 2074-2083, 2000.
[0034909]25497.Falconer, M. A.; Cope, C. L.; Robb-Smith, A. H. T.: Fibrous dysplasia of bone with endocrine disorders and cutaneous pigmentation (Albright's disease). Quart. J. Med. 11: 121-154, 1942.
[0034910]25498.Jackson, I. J.: A cDNA encoding tyrosinase-related protein maps to the brown locus in mouse. Proc. Nat. Acad. Sci. 85: 4392-4396, 1988. Note: Erratum: Proc. Nat. Acad. Sci. 86: 997 only, 1989.
[0034911]25499.Albertsen, H. M.; Smith, S. A.; Mazoyer, S.; Fujimoto, E.; Stevens, J.; Williams, B.; Rodriguez, P.; Cropp, C. S.; Slijepcevic, P.; Carlson, M.; Robertson, M.; Bradley, P.; Lawrence, E.; Harrington, T.; Mei Sheng, Z.; Hoopes, R.; Sternberg, N.; Brothman, A.; Callahan, R.; Ponder, B. A. J.; White, R.: A physical map and candidate genes in the BRCA1 region on chromosome 17q12-21. Nature Genet. 7: 472-479, 1994.
[0034912]25500.Ninomiya, Y.; Olsen, B. R.: Synthesis and characterization of cDNA encoding a cartilage-specific short collagen. Proc. Nat. Acad. Sci. 81: 3014-3018, 1984.
[0034913]25501.Khatib, Z. A.; Inaba, T.; Valentine, M.; Look, A. T.: Chromosomal localization and cDNA cloning of the human DBP and TEF genes. Genomics 23: 344-351, 1994.
[0034914]25502.Pilla, M.; Perachon, S.; Sautel, F.; Garrido, F.; Mann, A.; Wermuth, C. G.; Schwartz, J.-C.; Everitt, B. J.; Sokoloff, P.: Selective inhibition of cocaine-seeking behaviour by a partial dopamine D3 receptor agonist. Nature 400: 371-375, 1999.
[0034915]25503.Kaplan, R.; Jaye, M.; Burgess, W. H.; Schlaepfer, D. D.; Haigler, H. T.: Cloning and expression of cDNA for human endonexin II, a Ca(2+) and phospholipid binding protein. J. Biol. Chem. 263: 8037-8043, 1988.
[0034916]25504.Arinami, T.; Ishikawa, M.; Inoue, A.; Yanagisawa, M.; Masaki, T.; Yoshida, M. C.; Hamaguchi, H.: Chromosomal assignments of the human endothelin family genes: the endothelin-1 gene (EDN1) to 6p23-p24, the endothelin-2 gene (EDN2) to 1p34, and the endothelin-3 gene (EDN3) to 20q13.2-q13.3. Am. J. Hum. Genet. 48: 990-996, 1991.
[0034917]25505.Bourgeois, C.; Robert, B.; Rebourcet, R.; Mondon, F.; Mignot, T.-M.; Duc-Goiran, P.; Ferre, F.: Endothelin-1 and ET(A) receptor expression in vascular smooth muscle cells from human placenta: a new ET(A) receptor messenger ribonucleic acid is generated by alternative splicing of exon 3. J. Clin. Endocr. Metab. 82: 3116-3123, 1997.
[0034918]25506.Inoue, A.; Yanagisawa, M.; Kimura, S.; Kasuya, Y.; Miyauchi, T.; Goto, K.; Masaki, T.: The human endothelin family: three structurally and pharmacologically distinct isopeptides predicted by three separate genes. Proc. Nat. Acad. Sci. 86: 2863-2867, 1989.
[0034919]25507.Muller, G.; Ruppert, S.; Schmid, E.; Schutz, G.: Functional analysis of alternatively spliced tyrosinase gene transcripts. EMBO J. 7: 2723-2730, 1988.
[0034920]25508.Murty, V. V. V. S.; Bouchard, B.; Mathew, S.; Vijayasaradhi, S.; Houghton, A. N.: Assignment of the human TYRP (brown) locus to chromosome region 9p23 by nonradioactive in situ hybridization. Genomics 13: 227-229, 1992.
[0034921]25509.Ramsay, M.; Colman, M. A.; Jenkins, T.; Fox, M.; Chintamaneni, C.; Pickard, R.; Kwon, B.: The human CAS2 locus (homologous to the mouse b locus) maps to 9p22-pter. (Abstract) Cytogenet. Cell Genet. 58: 1943 only, 1991.
[0034922]25510.Shibahara, S.; Tomita, Y.; Yoshizawa, M.; Shibata, K.; Tagami, H.: Identification of mutation in the pigment cell-specific gene located at the brown locus in mouse. Pigment Cell Res. Suppl. 2: 90-95, 1992.
[0034923]25511.Shaikh, S.; Ball, D.; Craddock, N.; Castle, D.; Hunt, N.; Mant, R.; Owen, M.; Collier, D.; Gill, M.: The dopamine D3 receptor gene: no association with bipolar affective disorder. J. Med. Genet. 30: 308-309, 1993.
[0034924]25512.Sokoloff, P.; Giros, B.; Martres, M.-P.; Bouthenet, M.-L.; Schwartz, J.-C.: Molecular cloning and characterization of a novel dopamine receptor (D-3) as a target for neuroleptics. Nature 347: 146-151, 1990.
[0034925]25513.Spurlock, G.; Williams, J.; McGuffin, P.; Aschauer, H. N.; Lenzinger, E.; Fuchs, K.; Sieghart, W. C.; Meszaros, K.; Fathi, N.; Laurent, C.; Mallet, J.; Macciardi, F.; Pedrini, S.; Gill, M.; Hawi, Z.; Gibson, S.; Jazin, E. E.; Yang, H.-T.; Adolfsson, R.; Pato, C. N.; Dourado, A. M.; Owen, M. J.: European Multicentre Association Study of Schizophrenia: a study of the DRD2 ser311-to-cys and DRD3 ser9-to-gly polymorphisms. Am. J. Med. Genet. 81: 24-28, 1998.
[0034926]25514.Barsh, G. S.; Seeburg, P. H.; Gelinas, R. E.: The human growth hormone gene family:structure and evolution of the chromosomal locus. Nucleic Acids Res. 11: 3939-3958, 1983.
[0034927]25515.Halford, S.; Freedman, M. S.; Bellingham, J.; Inglis, S. L.; Poopalasundaram, S.; Soni, B. G.; Foster, R. G.; Hunt, D. M.: Characterization of a novel human opsin gene with wide tissue expression and identification of embedded and flanking genes on chromosome 1q43. Genomics 72: 203-208, 2001.
[0034928]25516.Haneda, M.; Chan, S. J.; Kwok, S. C. M.; Rubenstein, A. H.; Steiner, D. F.: Studies on mutant human insulin genes: identification and sequence analysis of a gene encoding (Ser-B24) insulin. Proc. Nat. Acad. Sci. 80: 6366-6370, 1983.
[0034929]25517.Hart, A. W.; Baeza, N.; Apelqvist, A.; Edlund, H.: Attenuation of FGF signalling in mouse beta-cells leads to diabetes. Nature 408: 864-868, 2000.
[0034930]25518.Mammarella, S.; Romano, F.; Di Valerio, A.; Creati, B.; Esposito, D. L.; Palmirotta, R.; Capani, F.; Vitullo, P.; Volpe, G.; Battista, P.; Della Loggia, F.; Mariani-Costantini, R.; Cama, A.: Interaction between the G1057D variant of IRS-2 and overweight in the pathogenesis of type 2 diabetes. Hum. Molec. Genet. 9: 2517-2521, 2000.
[0034931]25519.Triggs-Raine, B. L.; Kirkpatrick, R. D.; Kelly, S. L.; Norquay, L. D.; Cattini, P. A.; Yamagata, K.; Hanley, A. J. G.; Zinman, B.; Harris, S. B.; Barrett, P. H.; Hegele, R. A.: HNF1-alpha G319S, a transactivation-deficient mutant, is associated with altered dynamics of diabetes onset in an Oji-Cree community. Proc. Nat. Acad. Sci. 99: 4614-4619, 2002.
[0034932]25520.Tuomi, T.; Carlsson, A.; Li, H.; Isomaa, B.; Miettinen, A.; Nilsson, A.; Nissen, M.; Ehrnstrom, B.-O.; Forsen, B.; Snickars, B.; Lahti, K.; Forsblom, C.; Saloranta, C.; Taskinen, M.-R.; Groop, L. C.: Clinical and genetic characteristics of type 2 diabetes with and without GAD antibodies. Diabetes 48: 150-157, 1999.
[0034933]25521.Yuan, M.; Konstantopoulos, N.; Lee, J.; Hansen, L.; Li, Z.-W.; Karin, M.; Shoelson, S. E.: Reversal of obesity- and diet-induced insulin resistance with salicylates or targeted disruption of Ikkbeta. Science 293: 1673-1677, 2001.
[0034934]25522.Nuytinck, L.; Dalgleish, R.; Spotila, L.; Renard, J.-P.; Van Regemorter, N.; De Paepe, A.: Substitution of glycine-661 by serine in the alpha-1(I) and alpha-2(I) chains of type I collagen results in different clinical and biochemical phenotypes. Hum. Genet. 97: 324-329, 1996.
[0034935]25523.Nuytinck, L.; Freund, M.; Lagae, L.; Pierard, G. E.; Hermanns-Le, T.; De Paepe, A.: Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen. Am. J. Hum. Genet. 66: 1398-1402, 2000.
[0034936]25524.Oliver, J. E.; Thompson, E. M.; Pope, F. M.; Nicholls, A. C.: Mutation in the carboxyterminal propeptide of the pro-alpha1(I) chain of type I collagen in a child with severe osteogenesis imperfecta (OI type III): possible implications for protein folding. Hum. Mutat. 7: 318-326, 1996.
[0034937]25525.Pace, J. M.; Atkinson, M.; Willing, M. C.; Wallis, G.; Byers, P. H.: Deletions and duplications of Gly-Xaa-Yaa triplet repeats in the triple helical domains of type I collagen chains disrupt helix formation and result in several types of osteogenesis imperfecta. Hum. Mutat. 18: 319-326, 2001.
[0034938]25526.Pack, M.; Constantinou, C. D.; Kalia, K.; Nielsen, K. B.; Prockop, D. J.: Substitution of serine for alpha-1(I)-glycine 844 in a severe variant of osteogenesis imperfecta minimally destabilizes the triple helix of type I procollagen: the effects of glycine substitutions on thermal stability are either position or amino acid specific. J. Biol. Chem. 264: 19694-19699, 1989.
[0034939]25527.Pereira, R.; Halford, K.; Sokolov, B. P.; Khillan, J. S.; Prockop, D. J.: Phenotypic variability and incomplete penetrance of spontaneous fractures in an inbred strain of transgenic mice expressing a mutated collagen gene (COL1A1). J. Clin. Invest. 93: 1765-1769, 1994.
[0034940]25528.Pereira, R.; Khillan, J. S.; Helminen, H. J.; Hume, E. L.; Prockop, D. J.: Transgenic mice expressing a partially deleted gene for type I procollagen (COL1A1): a breeding line with a phenotype of spontaneous fractures and decreased bone collagen and mineral. J. Clin. Invest. 91: 709-716, 1993.
[0034941]25529.Pereira, R. F.; O'Hara, M. D.; Laptev, A. V.; Halford, K. W.; Pollard, M. D.; Class, R.; Simon, D.; Livezey, K.; Prockop, D. J. : Marrow stromal cells as a source of progenitor cells for nonhematopoietic tissues in transgenic mice with a phenotype of osteogenesis imperfecta. Proc. Nat. Acad. Sci. 95: 1142-1147, 1998.
[0034942]25530.Pestka, S.; Daugherty, B. L.; Jung, V.; Hotta, K.; Pestka, R. K.: Anti-mRNA: specific inhibition of translation of single mRNA molecules. Proc. Nat. Acad. Sci. 81: 7525-7528, 1984.
[0034943]25531.Raghunath, M.; Steinmann, B.; Delozier-Blanchet, C.; Extermann, P.; Superti-Furga, A.: Prenatal diagnosis of collagen disorders by direct biochemical analysis of chorionic villus biopsies. Pediat. Res. 36: 441-448, 1994.
[0034944]25532.Redford-Badwal, D. A.; Stover, M. L.; Valli, M.; McKinstry, M. B.; Rowe, D. W.: Nuclear retention of COL1A1 messenger RNA identifies null alleles causing mild osteogenesis imperfecta. J. Clin. Invest. 97: 1035-1040, 1996.
[0034945]25533.Retief, E.; Parker, M. I.; Retief, A. E.: Regional chromosome mapping of human collagen genes alpha 2(I) and alpha 1(I) (COLIA2 and COLIA1). Hum. Genet. 69: 304-308, 1985.
[0034946]25534.Sainz, J.; Van Tornout, J. M.; Sayre, J.; Kaufman, F.; Gilsanz, V.: Association of collagen type 1 alpha-1 gene polymorphism with bone density in early childhood. J. Clin. Endocr. Metab. 84: 853-855, 1999.
[0034947]25535.Schnieke, A.; Harbers, K.; Jaenisch, R.: Embryonic lethal mutation in mice induced by retrovirus insertion into the alpha-1 (I) collagen gene. Nature 304: 315-320, 1983.
[0034948]25536.Schwarze, U.; Starman, B. J.; Byers, P. H.: Redefinition of exon 7 in the COL1A1 gene of type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: influence of intron splice order on outcome of splice-site mutation. Am. J. Hum. Genet. 65: 336-344, 1999.
[0034949]25537.Sippola-Thiele, M.; Tromp, G. C.; Prockop, D. J.; Ramirez, F. : Assessment of small polymorphisms in defined human collagen gene segments. Hum. Genet. 72: 245-247, 1986.
[0034950]25538.Solomon, E.; Hiorns, L.; Sheer, D.; Rowe, D.: Confirmation that the type I collagen gene on chromosome 17 is COL1A1(alpha-1(I)), using a human genomic probe. Ann. Hum. Genet. 48: 39-42, 1984.
[0034951]25539.Solomon, E.; Hiorns, L. R.; Cheah, K. S. E.; Parkar, M.; Weiss, E.; Flavell, R. A.: Assignment of a human alpha-1(I)-like collagen gene to chromosome 12, by molecular hybridization.(Abstract) Cytogenet. Cell Genet. 37: 588-589, 1984.
[0034952]25540.Solomon, E.; Sykes, B.: Assignment of alpha-1 (I), alpha-2, and possibly alpha-1 (III), chains of human collagen to chromosome 7.(Abstract) Cytogenet. Cell Genet. 25: 205, 1979.
[0034953]25541.Steinmann, B.: Personal Communication. Zurich, Switzerland 11/28/1994.
[0034954]25542.Barker, P. E.; Shipp, M. A.; D'Adamio, L.; Masteller, E. L.; Reinherz, E. L.: The common acute lymphoblastic leukemia antigen gene maps to chromosomal region 3(q21-q27). J. Immun. 142: 283-287, 1989.
[0034955]25543.D'Adamio, L.; Shipp, M. A.; Masteller, E. L.; Reinherz, E. L.: Organization of the gene encoding common acute lymphoblastic leukemia antigen (neutral endopeptidase 24.11): multiple miniexons and separate 5-prime untranslated regions. Proc. Nat. Acad. Sci. 86: 7103-7107, 1989.
[0034956]25544.Debiec, H.; Guigonis, V.; Mougenot, B.; Decobert, F.; Haymann, J.-P.; Bensman, A.; Deschenes, G.; Ronco, P. M.: Antenatal membranous glomerulonephritis due to anti-neutral endopeptidase antibodies. New Eng. J. Med. 346: 2053-2060, 2002.
[0034957]25545.Letarte, M.; Vera, S.; Tran, R.; Addis, J. B. L.; Onizuka, R. J.; Quackenbush, E. J.; Jongeneel, C. V.; McInnes, R. R.: Common acute lymphocytic leukemia antigen is identical to neutral endopeptidase. J. Exp. Med. 168: 1247-1253, 1988.
[0034958]25546.Shipp, M. A.; Vijayaraghavan, J.; Schmidt, E. V.; Masteller, E. L.; D'Adamio, L.; Hersh, L. B.; Reinherz, E. L.: Common acute lymphoblastic leukemia antigen (CALLA) is active neutral endopeptidase 24.11 ('enkephalinase'): direct evidence by cDNA transfection analysis. Proc. Nat. Acad. Sci. 86: 297-301, 1989.
[0034959]25547.Tran-Paterson, R.; Willard, H. F.; Letarte, M.: The common acute lymphoblastic leukemia antigen (neutral endopeptidase--3.4.24.11) gene is located on human chromosome 3. Cancer Genet. Cytogenet. 42: 129-134, 1989.
[0034960]25548.Boyd, Y.; Cockburn, D.; Holt, S.; Munro, E.; van Ommen, G. J.; Gillard, B.; Affara, N.; Ferguson-Smith, M.; Craig, I.: Mapping of 12 translocation breakpoints in the Xp21 region with respect to the locus for Duchenne muscular dystrophy. Cytogenet. Cell Genet. 48: 28-34, 1988.
[0034961]25549.Sellar, G. C.; Blake, D. J.; Reid, K. B.: Characterization and organization of the genes encoding the A-, B-, and C-chains of human complement subcomponent C1q: the complete derived amino acid sequence of human C1q. Biochem. J. 274: 481-490, 1991.
[0034962]25550.Topaloglu, R.; Bakkaloglu, A.; Slingsby, J. H.; Mihatsch, M. J.; Pascual, M.; Norsworthy, P.; Morley, B. J.; Saatci, U.; Schifferli, J. A.; Walport, M. J.: Molecular basis of hereditary C1q deficiency associated with SLE and IgA nephropathy in a Turkish family. Kidney Int. 50: 635-642, 1996.
[0034963]25551.Skok, J.; Solomon, E.; Reid, K. B. M.; Thompson, R. A.: Distinct genes for fibroblast and serum C1q. Nature 292: 549-551, 1981.
[0034964]25552.Hannema, A. J.; Kluin-Nelemans, J. C.; Hack, C. E.; Eerenberg-Belmer, A. J. M.; Mallee, C.; van Helden, H. P. T.: SLE like syndrome and functional deficiency of C1q in members of a large family. Clin. Exp. Immun. 55: 106-114, 1984.
[0034965]25553.McAdam, R. A.; Goundis, D.; Reid, K. B. M.: A homozygous point mutation results in a stop codon in the C1q deficient individual. Immunogenetics 27: 259-264, 1988.
[0034966]25554.Sellar, G. C.; Cockburn, D.; Reid, K. B. M.: Localization of the gene cluster encoding the A, B, and C chains of human C1q to 1p34.1-1p36.3. Immunogenetics 35: 214-216, 1992.
[0034967]25555.Solomon, E.; Skok, J.; Griffin, J.; Reid, K. B. M.: Human C1q B chain (C1QB) is on chromosome 1p. (Abstract) Cytogenet. Cell Genet. 40: 749 only, 1985.
[0034968]25556.Thompson, R. A.; Haeney, M.; Reid, K. B. M.; Davis, J. G.; White, R. H.; Cameron, A. H.: A genetic defect of the C1q subcomponent of complement associated with childhood (immune complex) nephritis. New Eng. J. Med. 303: 22-24, 1980.
[0034969]25557.Lahn, B. T.; Page, D. C.: Four evolutionary strata on the human X chromosome. Science 286: 964-967, 1999.
[0034970]25558.Lee, F. A.; Issacs, H.; Strauss, J.: The 'camptomelic' syndrome. Short life-span dwarfism with respiratory distress, hypotonia, peculiar facies, and multiple skeletal and cartilaginous deformities. Am. J. Dis. Child. 124: 485-496, 1972.
[0034971]25559.Lynch, S. A.; Gaunt, M. L.; Minford, A. M. B.: Campomelic dysplasia: evidence of autosomal dominant inheritance. J. Med. Genet. 30: 683-686, 1993.
[0034972]25560.Macpherson, R. I.; Skinner, S. A.; Donnenfeld, A. E.: Acampomelic campomelic dysplasia. Pediat. Radiol. 20: 90-93, 1989.
[0034973]25561.Mansour, S.; Hall, C. M.; Pembrey, M. E.; Young, I. D.: A clinical and genetic study of campomelic dysplasia. J. Med. Genet. 32: 415-420, 1995.
[0034974]25562.Maraia, R.; Saal, H. M.; Wangsa, D.: A chromosome 17q de novo paracentric inversion in a patient with campomelic dysplasia; case report and etiologic hypothesis. Clin. Genet. 39: 401-408, 1991.
[0034975]25563.Maroteaux, P.; Spranger, J. W.; Opitz, J. M.; Kucera, J.; Lowry, R. B.; Schimke, R. N.; Kagan, S. M.: Le syndrome campomelique. Presse Med. 22: 1157-1162, 1971.
[0034976]25564.Meyer, J.; Sudbeck, P.; Held, M.; Wagner, T.; Schmitz, M. L.; Bricarelli, F. D.; Eggermont, E.; Friedrich, U.; Haas, O. A.; Kobelt, A.; Leroy, J. G.; van Maldergem, L.; Michel, E.; Mitulla, B.; Pfeiffer, R. A.; Schinzel, A.; Schmidt, H.; Scherer, G.: Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations. Hum. Molec. Genet. 6: 91-98, 1997.
[0034977]25565.Moedjono, S. J.; Crandall, B. F.; Sparkes, R. S.; Feldman, G. M.; Austin, G. E.; Perry, S.: The campomelic syndrome in a singleton and monozygotic twins. Clin. Genet. 18: 397-401, 1980.
[0034978]25566.Moog, U.; Jansen, N. J. G.; Scherer, G.; Schrander-Stumpel, C. T. R. M.: Acampomelic campomelic syndrome. Am. J. Med. Genet. 104: 239-245, 2001.
[0034979]25567.Morais da Silva, S.; Hacker, A.; Harley, V.; Goodfellow, P.; Swain, A.; Lovell-Badge, R.: Sox9 expression during gonadal development implies a conserved role for the gene in testis differentiation in mammals and birds. Nature Genet. 14: 62-68, 1996.
[0034980]25568.Murakami, S.; Kan, M.; McKeehan, W. L.; de Crombrugghe, B.: Up-regulation of the chondrogenic Sox9 gene by fibroblast growth factors is mediated by the mitogen-activated protein kinase pathway. Proc. Nat. Acad. Sci. 97: 1113-1118, 2000.
[0034981]25569.Ninomiya, S.; Isomura, M.; Narahara, K.; Seino, Y.; Nakamura, Y.: Isolation of a testis-specific cDNA on chromosome 17q from a region adjacent to the breakpoint of t(12;17) observed in a patient with acampomelic campomelic dysplasia and sex reversal. Hum. Molec. Genet. 5: 69-72, 1996.
[0034982]25570.Ninomiya, S.; Yokoyama, Y.; Teraoka, M.; Mori, R.; Inoue, C.; Yamashita, S.; Tamai, H.; Funato, M.; Seino, Y.: A novel mutation (296 del G) of the SOX9 gene in a patient with campomelic syndrome and sex reversal. Clin. Genet. 58: 224-227, 2000.
[0034983]25571.Olney, P. N.; Kean, L. S.; Graham, D.; Elsas, L. J.; May, K. M. : Campomelic syndrome and deletion of SOX9. Am. J. Med. Genet. 84: 20-24, 1999.
[0034984]25572.Ozkilic, A.; Seven, M.; Yuksel, A.: A case of acampomelic campomelic dysplasia. Genet. Counsel. 13: 23-28, 2002.
[0034985]25573.Patel, M.; Dorman, K. S.; Zhang, Y.-H.; Huang, B.-L.; Arnold, A. P.; Sinsheimer, J. S.; Vilain, E.; McCabe, E. R. B.: Primate DAX1, SRY, and SOX9: evolutionary stratification of sexdetermination pathway. Am. J. Hum. Genet. 68: 275-280, 2001.
[0034986]25574.Pfeifer, D.; Kist, R.; Dewar, K.; Devon, K.; Lander, E. S.; Birren, B.; Korniszewski, L.; Back, E.; Scherer, G.: Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region. Am. J. Hum. Genet. 65: 111-124, 1999.
[0034987]25575.Puck, S. M.; Haseltine, F. P.; Francke, U.: Absence of H-Y antigen in an XY female with campomelic dysplasia. Hum. Genet. 57: 23-27, 1981.
[0034988]25576.Rimoin, D. L.: Personal Communication. Torrance, Calif. 8/12/1976.
[0034989]25577.Rodriguez, J. I.: Vascular anomalies in campomelic syndrome. Am. J. Med. Genet. 46: 185-192, 1993.
[0034990]25578.Savarirayan, R.; Bankier, A.: Acampomelic campomelic dysplasia with de novo 5q;17q reciprocal translocation and severe phenotype. J. Med. Genet. 35: 597-599, 1998.
[0034991]25579.Schimke, R. N.: XY sex-reversed campomelia--possibly an X-linked disorder? (Letter) Clin. Genet. 16: 62-63, 1979.
[0034992]25580.Shafai, T.; Schwartz, L.: Camptomelic syndrome in siblings. J. Pediat. 89: 512-513, 1976.
[0034993]25581.Spranger, J.: Advances in bone dysplasias. (Abstract) Sixth Int. Cong. Hum. Genet. Jerusalem , 1981.
[0034994]25582.Stuve, A.; Wiedemann, H.-R.: Congenital bowing of the long bones in two sisters. (Letter) Lancet I: 495, 1971.
[0034995]25583.Sudbeck, P.; Schmitz, M. L.; Baeuerle, P. A.; Scherer, G.: Sex reversal by loss of the C-terminal transactivation domain of human SOX9. Nature Genet. 13: 230-232, 1996.
[0034996]25584.Thong, M.-K.; Scherer, G.; Kozlowski, K.; Haan, E.; Morris, L. : Acampomelic campomelic dysplasia with SOX9 mutation. Am. J. Med. Genet. 93: 421-425, 2000.
[0034997]25585.Thurmon, T. F.; De Fraites, E. B.; Anderson, E. E.: Familial campomelic dwarfism. J. Pediat. 83: 841-843, 1973.
[0034998]25586.Vidal, V. P. I.; Chaboissier, M.-C.; de Rooij, D. G.; Schedl, A.: Sox9 induces testis development in XX transgenic mice. Nature Genet. 28: 216-217, 2001.
[0034999]25587.Wagner, T.; Wirth, J.; Meyer, J.; Zabel, B.; Held, M.; Zimmer, J.; Pasantes, J.; Dagna Bricarelli, F.; Keutel, J.; Hustert, E.; Wolf, U.; Tommerup, N.; Schempp, W.; Scherer, G.: Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. Cell 79: 1111-1120, 1994.
[0035000]25588.Weller, S. D. V.: Hypophosphatasia with congenital dimples. Proc. Roy. Soc. Med. 52: 637, 1959.
[0035001]25589.Wirth, J.; Wagner, T.; Meyer, J.; Pfeiffer, R. A.; Tietze, H.-U.; Schempp, W.; Scherer, G.: Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9. Hum. Genet. 97: 186-193, 1996.
[0035002]25590.Wright, E.; Hargrave, M. R.; Christiansen, J.; Cooper, L.; Kun, J.; Evans, T.; Gangadharan, U.; Greenfield, A.; Koopman, P.: The Sry-related gene Sox9 is expressed during chondrogenesis in mouse embryos. Nature Genet. 9: 15-20, 1995.
[0035003]25591.Albritton, L. M.; Bowcock, A. M.; Eddy, R. L.; Morton, C. C.; Tseng, L.; Farrer, L. A.; Cavalli-Sforza, L. L.; Shows, T. B.; Cunningham, J. M.: The human cationic amino acid transporter (ATRC1): physical and genetic mapping to 13q12-q14. Genomics 12: 430-434, 1992.
[0035004]25592.Bowcock, A. M.; Gerken, S. C.; Barnes, R. I.; Shiang, R.; Jabs, E. W.; Warren, A. C.; Antonarakis, S.; Retief, A. E.; Vergnaud, G.; Leppert, M.; Lalouel, J.-M.; White, R. L.; Cavalli-Sforza, L. L.: The CEPH consortium linkage map of human chromosome 13. Genomics 16: 486-496, 1993.
[0035005]25593.Kim, J. W.; Closs, E. I.; Albritton, L. M.; Cunningham, J. M.: Transport of cationic amino acids by the mouse ecotropic retrovirus receptor. Nature 352: 725-728, 1991.
[0035006]25594.Kozak, C. A.; Albritton, L. M.; Cunningham, J. M.: Genetic mapping of a cloned sequence responsible for susceptibility to ecotropic murine leukemia viruses. J. Virol. 64: 3119-3121, 1990.
[0035007]25595.Oie, H. K.; Gazdar, A. F.; Lalley, P. A.; Russell, E. K.; Minna, J. D.; DeLarco, J.; Todaro, G. J.; Francke, U.: Mouse chromosome 5 codes for ecotropic murine leukaemia virus cell-surface receptor. Nature 274: 60-62, 1978.
[0035008]25596.Ruddle, N. H.; Conta, B. S.; Leinwand, L.; Kozak, C.; Ruddle, F.; Besmer, P.; Baltimore, D.: Assignment of the receptor for ecotropic murine leukemia virus to mouse chromosome 5. J. Exp. Med. 148: 451-465, 1978.
[0035009]25597.Cook, P. W.; Piepkorn, M.; Clegg, C. H.; Plowman, G. D.; DeMay, J. M.; Brown, J. R.; Pittelkow, M. R.: Transgenic expression of the human amphiregulin gene induces a psoriasis-like phenotype. J. Clin. Invest. 100: 2286-2294, 1997.
[0035010]25598.Disteche, C. M.; Plowman, G. D.; Gronwald, R. G. K.; Kelly, J.; Bowen-Pope, D.; Adler, D. A.; Murray, J. C.: Mapping of the amphiregulin and the platelet-growth factor receptor alpha genes to the proximal long arm of chromosome 4. (Abstract) Cytogenet. Cell Genet. 51: 990 only, 1989.
[0035011]25599.Kimura, H.; Fischer, W. H.; Schubert, D.: Structure, expression and function of a schwannoma-derived growth factor. Nature 348: 257-260, 1990.
[0035012]25600.Gillessen-Kaesbach, G.; Demuth, S.; Thiele, H.; Theile, U.; Lich, C.; Horsthemke, B.: A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect. Europ. J. Hum. Genet. 7: 638-644, 1999.
[0035013]25601.Acosta, J.; Hettinga, J.; Fluckiger, R.; Krumrei, N.; Goldfine, A.; Angarita, L.; Halperin, J.: Molecular basis for a link between complement and the vascular complications of diabetes. Proc. Nat. Acad. Sci. 97: 5450-5455, 2000.
[0035014]25602.Bickmore, W. A.; Longbottom, D.; Oghene, K.; Fletcher, J. M.; van Heyningen, V.: Colocalization of the human CD59 gene to 11p13 with the MIC11 cell surface antigen. Genomics 17: 129-135, 1993.
[0035015]25603.Davies, A.; Simmons, D. L.; Hale, G.; Harrison, R. A.; Tighe, H.; Lachmann, P. J.; Waldmann, H.: CD59, an LY-6-like protein expressed in human lymphoid cells, regulates the action of the complement membrane attack complex on homologous cells. J. Exp. Med. 170: 637-654, 1989.
[0035016]25604.Forsberg, U. H.; Bazil, V.; Stefanova, I.; Schroder, J.: Gene for human CD59 (likely Ly-6 homologue) is located on the short arm of chromosome 11. Immunogenetics 30: 188-193, 1989.
[0035017]25605.Harada, R.; Okada, N.; Fujita, T.; Okada, H.: Purification of 1F5 antigen that prevents complement attack on homologous cell membranes. J. Immun. 144: 1823-1828, 1990.
[0035018]25606.Heckl-Ostreicher, B.; Ragg, S.; Drechsler, M.; Scherthan, H.; Royer-Pokora, B.: Localization of the human CD59 gene by fluorescence in situ hybridization and pulsed-field gel electrophoresis. Cytogenet. Cell Genet. 63: 144-146, 1993.
[0035019]25607.Holt, D. S.; Botto, M.; Bygrave, A. E.; Hanna, S. M.; Walport, M. J.; Morgan, B. P.: Targeted deletion of the CD59 gene causes spontaneous intravascular hemolysis and hemoglobinuria. Blood 98: 442-449, 2001.
[0035020]25608.Holt, D. S.; Powell, M. B.; Rushmere, N. K.; Morgan, B. P.: Genomic structure and chromosome location of the gene encoding mouse CD59. Cytogenet. Cell Genet. 89: 264-267, 2000.
[0035021]25609.Huppi, K.; Duncan, R.; Potter, M.: Myc-1 is centromeric to the linkage group Ly-6-Sis-Gdc-1 on mouse chromosome 15. Immunogenetics 27: 215-219, 1988.
[0035022]25610.Kamiura, S.; Nolan, C. M.; Meruelo, D.: Long-range physical map of the Ly-6 complex: mapping the Ly-6 multigene family by field-inversion and two-dimensional gel electrophoresis. Genomics 12: 89-105, 1992.
[0035023]25611.Low, M. G.; Saltiel, A. R.: Structural and functional roles of glycosylphosphatidylinositol in membranes. Science 239: 268-275, 1988.
[0035024]25612.Mahoney, J. F.; Urakaze, M.; Hall, S.; DeGasperi, R.; Chang, H.-M.; Sugiyama, E.; Warren, C. D.; Borowitz, M.; Nicholson-Weller, A.; Rosse, W. F.; Yeh, E. T. H.: Defective glycosylphosphatidylinositol anchor synthesis in paroxysmal nocturnal hemoglobinuria granulocytes. Blood 79: 1400-1403, 1992.
[0035025]25613.Mao, M.; Yu, M.; Tong, J.-H.; Ye, J.; Zhu, J.; Huang, Q.-H.; Fu, G.; Yu, L.; Zhao, S.-Y.; Waxman, S.; Lanotte, M.; Wang, Z.-Y.; Tan, J.-Z.; Chan, S.-J.; Chen, Z.: RIG-E, a human homolog of the murine Ly-6 family, is induced by retinoic acid during the differentiation of acute promyelocytic leukemia cell. Proc. Nat. Acad. Sci. 93: 5910-5914, 1996.
[0035026]25614.Meri, S.; Morgan, B. P.; Davies, A.; Daniels, R. H.; Olavesen, M. G.; Waldmann, H.; Lachmann, P. J.: Human protectin (CD59), an 18,000-20,000 MW complement lysis restricting factor, inhibits C5b-8 catalysed insertion of C9 into lipid bilayers. Immunology 71: 1-9, 1990.
[0035027]25615.Meri, S.; Morgan, B. P.; Wing, M.; Jones, J.; Davies, A.; Podack, E.; Lachmann, P. J.: Human protectin (CD59), an 18-20-kD homologous complement restriction factor, does not restrict perforin-mediated lysis. J. Exp. Med. 172: 367-370, 1990.
[0035028]25616.Motoyama, N.; Okada, N.; Yamashina, M.; Okada, H.: Paroxysmal nocturnal hemoglobinuria due to hereditary nucleotide deletion in the HRF20 (CD59) gene. Europ. J. Immun. 22: 2669-2673, 1992.
[0035029]25617.Okada, N.; Harada, R.; Fujiita, T.; Okada, H.: A novel membrane glycoprotein capable of inhibiting membrane attack by homologous complement. Int. Immun. 1: 205-208, 1989.
[0035030]25618.Stubbs, L.; Carver, E.; Ashworth, L.; Lopez-Molina, L.: Location of the DBP transcription factor gene in human and mouse. Mammalian Genome 7: 65-67, 1996.
[0035031]25619.Szpirer, C.; Riviere, M.; Cortese, R.; Nakamura, T.; Islam, M. Q.; Levan, G.; Szpirer, J.: Chromosomal localization in man and rat of the genes encoding the liver-enriched transcription factors C/EBP, DBP, and HNF1/LFB-1 (CEBP, DBP, and transcription factor 1, TCF1, respectively) and of the hepatocyte growth factor/scatter factor gene (HGF). Genomics 13: 293-300, 1992.
[0035032]25620.Gersten, K. M.; Natsuka, S.; Trinchera, M.; Petryniak, B.; Kelly, R. J.; Hiraiwa, N.; Jenkins, N. A.; Gilbert, D. J.; Copeland, N. G.; Lowe, J. B.: Molecular cloning, expression, chromosomal assignment, and tissue-specific expression of a murine alpha-(1,3)-fucosyltransferase locus corresponding to the human ELAM-1 ligand fucosyl transferase. J. Biol. Chem. 270: 25047-25056, 1995.
[0035033]25621.Angeletti, R. H.: Chromogranins and neuroendocrine secretion. (Editorial) Lab. Invest. 55: 387-390, 1986.
[0035034]25622.Bhargava, G.; Russell, J.; Sherwood, L. M.: Phosphorylation of parathyroid secretory protein. Proc. Nat. Acad. Sci. 80: 878-881, 1983.
[0035035]25623.Cetin, Y.; Aunis, D.; Bader, M.-F.; Galindo, E.; Jorns, A.; Bargsten, G.; Grube, D.: Chromostatin, a chromogranin A-derived bioactive peptide, is present in human pancreatic insulin (beta) cells. Proc. Nat. Acad. Sci. 90: 2360-2364, 1993.
[0035036]25624.Janssen, J. W. G.; Schulz, A. S.; Steenvoorden, A. C. M.; Schmidberger, M.; Strehl, S.; Ambros, P. F.; Bartram, C. R.: A novel putative tyrosine kinase receptor with oncogenic potential. Oncogene 6: 2113-2120, 1991.
[0035037]25625.Liu, E.; Hjelle, B.; Bishop, J. M.: Transforming genes in chronic myelogenous leukemia. Proc. Nat. Acad. Sci. 85: 1952-1956, 1988.
[0035038]25626.Lu, Q.; Lemke, G.: Homeostatic regulation of the immune system by receptor tyrosine kinases of the Tyro 3 family. Science 293: 306-311, 2001.
[0035039]25627.Manfioletti, G.; Brancolini, C.; Avanzi, G.; Schneider, C.: The protein encoded by a growth arrest-specific gene (gas6) is a new member of the vitamin K-dependent proteins related to protein S, a negative coregulator in the blood coagulation cascade. Molec. Cell. Biol. 13: 4976-4985, 1993.
[0035040]25628.O'Bryan, J. P.; Frye, R. A.; Cogswell, P. C.; Neubauer, A.; Kitch, B.; Prokop, C.; Espinosa, R., III; Le Beau, M. M.; Earp, H. S.; Liu, E. T.: Axl, a transforming gene isolated from primary human myeloid leukemia cells, encodes a novel receptor tyrosine kinase. Molec. Cell. Biol. 11: 5016-5031, 1991.
[0035041]25629.Varnum, B. C.; Young, C.; Elliott, G.; Garcia, A.; Bartley, T. D.; Fridell, Y.-W.; Hunt, R. W.; Trail, G.; Clogston, C.; Toso, R. J.; Yanagihara, D.; Bennett, L.; Sylber, M.; Merewether, L. A.; Tseng, A.; Escobar, E.; Liu, E. T.; Yamane, H. K.: Axl receptor tyrosine kinase stimulated by the vitamin K-dependent protein encoded by growth-arrest-specific gene 6. Nature 373: 623-626, 1995.
[0035042]25630.Galbraith, G. M. P.; Pandey, J. P.: Tumor necrosis factor alpha (TNF-alpha) gene polymorphism in alopecia areata. Hum. Genet. 96: 433-436, 1995.
[0035043]25631.Tazi-Ahnini, R.; di Giovine, F. S.; McDonagh, A. J. G.; Messenger, A. G.; Amadou, C.; Cox, A.; Duff, G. W.; Cork, M. J.: Structure and polymorphism of the human gene for the interferoninduced p78 protein (MX1): evidence of association with alopecia areata in the Down syndrome region. Hum. Genet. 106: 639-645, 2000.
[0035044]25632.Wilson, A. G.; di Giovine, F. S.; Blakemore, A. I. F.; Duff, G. W.: Single base polymorphism in the human tumour necrosis factor alpha (TNF-alpha) gene detectable by NcoI restriction of PCR product. Hum. Molec. Genet. 1: 353 only, 1992.
[0035045]25633.Belanger, L.; Roy, S.; Allard, D.: New albumin gene 3-prime adjacent to the alpha-1-fetoprotein locus. J. Biol. Chem. 269: 5481-5484, 1994.
[0035046]25634.Lichenstein, H. S.; Lyons, D. E.; Wurfel, M. M.; Johnson, D. A.; McGinley, M. D.; Leidli, J. C.; Trollinger, D. B.; Mayer, J. P.; Wright, S. D.; Zukowski, M. M.: Afamin is a new member of the albumin, alpha-fetoprotein, and vitamin D-binding protein gene family. J. Biol. Chem. 269: 18149-18154, 1994.
[0035047]25635.Nishio, H.; Dugaiczyk, A.: Complete structure of the human alpha-albumin gene, a new member of the serum albumin multigene family. Proc. Nat. Acad. Sci. 93: 7557-7561, 1996.
[0035048]25636.Song, Y.-H.; Naumova, A. K.; Liebhaber, S. A.; Cooke, N. E.: Physical and meiotic mapping of the region of human chromosome 4q11-q13 encompassing the vitamin D binding protein DBP/Gc-globulin and albumin multigene cluster. Genome Res. 9: 581-587, 1999.
[0035049]25637.Ettinger, S.; Weksler, M. E.; Zhou, X.; Blass, J.; Szabo, P.: Chromosomal fragility associated with familial Alzheimer's disease. Ann. Neurol. 36: 190-199, 1994.
[0035050]25638.Fox, N. C.; Kennedy, A. M.; Harvey, R. J.; Lantos, P. L.; Roques, P. K.; Collinge, J.; Hardy, J.; Hutton, M.; Stevens, J. M.; Warrington, E. K.; Rossor, M. N.: Clinicopathological features of familial Alzheimer's disease associated with the M139V mutation in the presenilin 1 gene: pedigree but not mutation specific age at onset provides evidence for a further genetic factor. Brain 120: 491-501, 1997.
[0035051]25639.Seri, M.; Celli, I.; Betsos, N.; Claudiani, F.; Camera, G.; Romeo, G.: A cys634gly substitution of the RET proto-oncogene in a family with recurrence of multiple endocrine neoplasia type 2A and cutaneous lichen amyloidosis. Clin. Genet. 51: 86-90, 1997.
[0035052]25640.Georgakopoulos, A.; Marambaud, P.; Efthimiopoulos, S.; Shioi, J.; Cui, W.; Li, H.-C.; Schutte, M.; Gordon, R.; Holstein, G. R.; Martinelli, G.; Mehta, P.; Friedrich, V. L., Jr.; Robakis, N. K.: Presenilin-1 forms complexes with the cadherin/catenin cell-cell adhesion system and is recruited to intercellular and synaptic contacts. Molec. Cell 4: 893-902, 1999.
[0035053]25641.Grilli, M.; Diodato, E.; Lozza, G.; Brusa, R.; Casarini, M.; Uberti, D.; Rozmahel, R.; Westaway, D.; St George-Hyslop, P.; Memo, M.; Ongini, E.: Presenilin-1 regulates the neuronal threshold to excitotoxicity both physiologically and pathologically. Proc. Nat. Acad. Sci. 97: 12822-12827, 2000.
[0035054]25642.Gustafson, L.; Brun, A.; Englund, E.; Hagnell, O.; Nilsson, K.; Stensmyr, M.; Ohlin, A.-K.; Abrahamson, M.: A 50-year perspective of a family with chromosome-14-linked Alzheimer's disease. Hum. Genet. 102: 253-257, 1998.
[0035055]25643.Handler, M.; Yang, X.; Shen, J.: Presenilin-1 regulates neuronal differentiation during neurogenesis. Development 127: 2593-2606, 2000.
[0035056]25644.Hartmann, D.: From Alzheimer's disease to skin tumors: the catenin connection. Proc. Nat. Acad. Sci. 98: 10522-10523, 2001.
[0035057]25645.Harvey, R. J.; Ellison, D.; Hardy, J.; Hutton, M.; Roques, P. K.; Collinge, J.; Fox, N. C.; Rossor, M. N.: Chromosome 14 familial Alzheimer's disease: the clinical and neuropathological characteristics of a family with a leucine-to-serine (L250S) substitution at codon 250 of the presenilin 1 gene. J. Neurol. Neurosurg. Psychiat. 64: 44-49, 1998.
[0035058]25646.Hsiao, K.; Chapman, P.; Nilsen, S.; Eckman, C.; Harigaya, Y.; Younkin, S.; Yang, F.; Cole, G.: Correlative memory deficits, A-beta elevation, and amyloid plaques in transgenic mice. Science 274: 99-103, 1996.
[0035059]25647.Hull, M.; Fiebich, B. L.; Dykierek, P.; Schmidtke, K.; Nitzsche, E.; Orszagh, M.; Deuschl, G.; Moser, E.; Schumacher, M.; Lucking, C.; Berger, M.; Bauer, J.: Early-onset Alzheimer's disease due to mutations of the presenilin-1 gene on chromosome 14: a 7-year follow-up of a patient with a mutation at codon 139. Europ. Arch. Psychiat. Clin. Neurosci. 248: 123-129, 1998.
[0035060]25648.Jarrett, J. T.; Berger, E. P.; Lansbury, P. T.: The carboxy terminus of the beta amyloid protein is critical for the seeding of amyloid formation: implications for the pathogenesis of Alzheimer's disease. Biochemistry 32: 4693-4697, 1993.
[0035061]25649.Johnson, K. A.; Lopera, F.; Jones, K.; Becker, A.; Sperling, R.; Hilson, J.; Londono, J.; Siegert, I.; Arcos, M.; Moreno, S.; Madrigal, L.; Ossa, J.; Pineda, N.; Ardila, A.; Roselli, M.; Albert, M. S.; Kosik, K. S.; Rios, A.: Presenilin-1-associated abnormalities in regional cerebral perfusion. Neurology 56: 1545-1551, 2001.
[0035062]25650.Kamal, A.; Almenar-Queralt, A.; LeBlanc, J. F.; Roberts, E. A.; Goldstein, L. S. B.: Kinesin-mediated axonal transport of a membrane compartment containing beta-secretase and presenilin-1 requires APP. Nature 414: 643-648, 2001.
[0035063]25651.Kamal, A.; Stokin, G. B.; Yang, Z.; Xia, C.; Goldstein, L. S. : Axonal transport of amyloid precursor protein is mediated by direct binding to the kinesin light chain subunit of kinesin-I. Neuron 28: 449-459, 2000.
[0035064]25652.Kang, D. E.; Soriano, S.; Xia, X.; Eberhart, C. G.; De Strooper, B.; Zheng, H.; Koo, E. H.: Presenilin couples the paired phosphorylation of beta-catenin independent of Axin: implications for beta-catenin activation in tumorigenesis. Cell 110: 751-762, 2002.
[0035065]25653.Kopan, R.; Goate, A.: A common enzyme connects Notch signaling and Alzheimer's disease. Genes Dev. 14: 2799-2806, 2000.
[0035066]25654.Kovacs, D. M.; Fausett, H. J.; Page, K. J.; Kim, T.-W.; Moir, R. D.; Merriam, D. E.; Hollister, R. D.; Hallmark, O. G.; Mancini, R.; Felsenstein, K. M.; Hyman, B. T.; Tanzi, R. E.; Wasco, W.: Alzheimer-associated presenilins 1 and 2: neuronal expression in brain and localization to intracellular membranes in mammalian cells. Nature Med. 2: 224-229, 1996.
[0035067]25655.Kwok, J. B. J.; Taddei, K.; Hallupp, M.; Fisher, C.; Brooks, W. S.; Broe, G. A.; Hardy, J.; Fulham, M. J.; Nicholson, G. A.; Stell, R.; St. George Hyslop, P. H.; Fraser, P. E.; and 6 others: Two novel (M233T and R278T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype. Neuroreport 8: 1537-1542, 1997.
[0035068]25656.Lambert, J.-C.; Mann, D. M. A.; Harris, J. M.; Chartier-Harlin, M.-C.; Cumming, A.; Coates, J.; Lemmon, H.; StClair, D.; Iwatsubo, T.; Lendon, C.: The -48 C/T polymorphism in the presenilin 1 promoter is associated with an increased risk of developing Alzheimer's disease and an increased A-beta load in brain. J. Med. Genet. 38: 353-355, 2001.
[0035069]25657.Leissring, M. A.; Akbari, Y.; Fanger, C. M.; Cahalin, M. D.; Mattson, M. P.; LaFerla, F. M.: Capacitative calcium entry deficits and elevated luminal calcium content in mutant presenilin-1 knockin mice. J. Cell Biol. 149: 793-797, 2000.
[0035070]25658.Lemere, C. A.; Lopera, F.; Kosik, K. S.; Lendon, C. L.; Ossa, J.; Saido, T. C.; Yamaguchi, H.; Ruiz, A.; Martinez, A.; Madrigal, L.; Hincapie, L.; Arango, J. C.; Anthony, D. C.; Koo, E. H.; Goate, A. M.; Selkoe, D. J.; Arango, J. C.: The E280A presenilin 1 Alzheimer mutation produces increased A-beta-42 deposition and severe cerebellar pathology. Nature Med. 2: 1146-1150, 1996.
[0035071]25659.Lewis, P. A.; Perez-Tur, J.; Golde, T. E.; Hardy, J.: The presenilin 1 C92S mutation increases A-beta-42 production. Biochem. Biophys. Res. Commun. 277: 261-263, 2000.
[0035072]25660.Li, J.; Xu, M.; Zhou, H.; Ma, J.; Potter, H.: Alzheimer presenilins in the nuclear membrane, interphase kinetochores, and centrosomes suggest a role in chromosome segregation. Cell 90: 917-927, 1997.
[0035073]25661.Li, Y.-M.; Lai, M.-T.; Xu, M.; Huang, Q.; DiMuzio-Mower, J.; Sardana, M. K.; Shi, X.-P.; Yin, K.-C.; Shafer, J. A.; Gardell, S. J.: Presenilin 1 is linked with gamma-secretase activity in the detergent solubilized state. Proc. Nat. Acad. Sci. 97: 6138-6143, 2000.
[0035074]25662.Matsubara-Tsutsui, M.; Yasuda, M.; Yamagata, H.; Nomura, T.; Taguchi, K.; Kohara, K.; Miyoshi, K.; Miki, T.: Molecular evidence of presenilin 1 mutation in familial early onset dementia. Am. J. Med. Genet. 114: 292-298, 2002.
[0035075]25663.Hofstra, R. M. W.; Sijmons, R. H.; Stelwagen, T.; Stulp, R. P.; Kousseff, B. G.; Lips, C. J. M.; Steijlen, P. M.; Van Voorst Vader, P. C.; Buys, C. H. C. M.: RET mutation screening in familial cutaneous lichen amyloidosis and in skin amyloidosis associated with multiple endocrine neoplasia. J. Invest. Derm. 107: 215-218, 1996.
[0035076]25664.Bordet, T.; Lesbordes, J.-C.; Rouhani, S.; Castelnau-Ptakhine, L.; Schmalbruch, H.; Haase, G.; Kahn, A.: Protective effects of cardiotrophin-1 adenoviral gene transfer on neuromuscular degeneration in transgenic ALS mice. Hum. Molec. Genet. 10: 1925-1933, 2001.
[0035077]25665.Narahara, K.; Kikkawa, K.; Kimira, S.; Kimoto, H.; Ogata, M.; Kasai, R.; Hamawaki, M.; Matsuoka, K.: Regional mapping of catalase and Wilms tumor--aniridia, genitourinary abnormalities, and mental retardation triad loci to the chromosome segment 11p1305-p1306. Hum. Genet. 66: 181-185, 1984.
[0035078]25666.Turleau, C.; de Grouchy, J.; Nihoul-Fekete, C.; Dufier, J. L.; Chavin-Colin, F.; Junien, C.: Del11p13/nephroblastoma without aniridia. Hum. Genet. 67: 455-456, 1984.
[0035079]25667.Newport, M. J.; Huxley, C. M.; Huston, S.; Hawrylowicz, C. M.; Oostra, B. A.; Williamson, R.; Levin, M.: A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection. New Eng. J. Med. 335: 1941-1949, 1996.
[0035080]25668.Cowan, C. A.; Yokoyama, N.; Bianchi, L. M.; Henkemeyer, M.; Fritzsch, B.: EphB2 guides axons at the midline and is necessary for normal vestibular function. Neuron 26: 417-430, 2000.
[0035081]25669.Novick, D.; Orchansky, P.; Revel, M.; Rubinstein, M.: The human interferon-gamma receptor: purification, characterization, and preparation of antibodies. J. Biol. Chem. 262: 8483-8487, 1987.
[0035082]25670.Orchansky, P.; Rubinstein, M.; Fischer, D. G.: The interferon-gamma receptor in human monocytes is different from the one in nonhematopoietic cells. J. Immun. 136: 169-173, 1986.
[0035083]25671.Papanicolaou, G. J.; Parsa, N. Z.; Meltzer, P. S.; Trent, J. M. : Assignment of interferon gamma receptor (IFNGR1) to human chromosome bands 6q24.1-q24.2 by in situ hybridization. Cytogenet. Cell Genet. 76: 181-182, 1997. Note: Erratum: Cytogenet. Cell Genet. 78: 132 only, 1997.
[0035084]25672.Pierre-Audigier, C.; Jouanguy, E.; Lamhamedi, S.; Altare, F.; Rauzier, J.; Vincent, V.; Canioni, D.; Emile, J. F.; Fischer, A.; Blanche, S.; Gaillard, J. L.; Casanova, J. L.: Fatal disseminated Mycobacterium smegmatis infection in a child with inherited interferon gamma receptor deficiency. Clin. Infect. Dis. 24: 982-984, 1997.
[0035085]25673.Rashidbaigi, A.; Langer, J. A.; Jung, V.; Jones, C.; Morse, H. G.; Tischfield, J. A.; Trill, J. J.; Kung, H.-F.; Pestka, S.: The gene for the human immune interferon receptor is located on chromosome 6. Proc. Nat. Acad. Sci. 83: 384-388, 1986.
[0035086]25674.Rettig, W. J.; Grzeschik, K.-H.; Yenamandra, A. K.; Garcia, E.; Old, L. J.: Definition of selectable cell surface markers for human chromosomes and chromosome segments in rodent-human hybrids. Somat. Cell Molec. Genet. 14: 223-231, 1988.
[0035087]25675.Shankaran, V.; Ikeda, H.; Bruce, A. T.; White, J. M.; Swanson, P. E.; Old, L. J.; Schreiber, R. D.: IFN-gamma and lymphocytes prevent primary tumour development and shape tumour immunogenicity. Nature 410: 1107-1111, 2001.
[0035088]25676.Bauer, R.; Imhof, A.; Pscherer, A.; Kopp, H.; Moser, M.; Seegers, S.; Kerscher, M.; Tainsky, M. A.; Hofstaedter, F.; Buettner, R.: The genomic structure of the human AP-2 transcription factor. Nucleic Acids Res. 22: 1413-1420, 1994.
[0035089]25677.Buettner, R.; Kannan, P.; Imhof, A.; Bauer, R.; Yim, S. O.; Glockshuber, R.; Van Dyke, M. W.; Tainsky, M. A.: An alternatively spliced mRNA from the AP-2 gene encodes a negative regulator of transcriptional activation by AP-2. Molec. Cell. Biol. 13: 4174-4185, 1993.
[0035090]25678.Ahmad, I.: Mash-1 is expressed during ROD photoreceptor differentiation and binds an E-box, E(opsin-1), in the rat opsin gene. Brain Res. Dev. Brain Res. 90: 184-189, 1995.
[0035091]25679.Ball, D. W.; Azzoli, C. G.; Baylin, S. B.; Chi, D.; Dou, S.; Donis-Keller, H.; Cumaraswamy, A.; Borges, M.; Nelkin, B. D.: Identification of a human achaete-scute homolog highly expressed in neuroendocrine tumors. Proc. Nat. Acad. Sci. 90: 5648-5652, 1993.
[0035092]25680.Guillemot, F.; Lo, L.-C.; Johnson, J. E.; Auerbach, A.; Anderson, D. J.; Joyner, A. L.: Mammalian achaete-scute homolog 1 is required for the early development of olfactory and autonomic neurons. Cell 75: 463-476, 1993.
[0035093]25681.Renault, B.; Lieman, J.; Ward, D.; Krauter, K.; Kucherlapati, R. : Localization of the human achaete-scute homolog gene (ASCL1) distal to phenylalanine hydroxylase (PAH) and proximal to tumor rejection antigen (TRA1) on chromosome 12q22-q23. Genomics 30: 81-83, 1995.
[0035094]25682.Deen, P. M. T.; Weghuis, D. O.; Geurts van Kessel, A.; Wieringa, B.; van Os, C. H.: The human gene for water channel aquaporin 1 (AQP1) is localized on chromosome 7p15-p14. Cytogenet. Cell Genet. 65: 243-246, 1994.
[0035095]25683.de Groot, B. L.; Grubmuller, H.: Water permeation across biological membranes: mechanism and dynamics of aquaporin-1 and Glpf. Science 294: 2353-2357, 2001.
[0035096]25684.de la Chapelle, A.; Vuopio, P.; Sanger, R.; Teesdale, P.: Monosomy-7 and the Colton blood-groups. (Letter) Lancet II: 817 only, 1975.
[0035097]25685.Denker, B. M.; Smith, B. L.; Kuhajda, F. P.; Agre, P.: Identification, purification, and partial characterization of a novel M(r) 28,000 integral membrane protein from erythrocytes and renal tubules. J. Biol. Chem. 263: 15634-15642, 1988.
[0035098]25686.Fushimi, K.; Uchida, S.; Hara, Y.; Hirata, Y.; Marumo, F.; Sasaki, S.: Cloning and expression of apical membrane water channel of rat kidney collecting tubule. Nature 361: 549-552, 1993.
[0035099]25687.Hoffman, J. F.: Aquaporin: a wee burn runs through it. (Editorial) J. Clin. Invest. 92: 1604-1605, 1993.
[0035100]25688.Keen, T. J.; Inglehearn, C. F.; Patel, R. J.; Green, E. D.; Peluso, D. C.; Bhattacharya, S. S.: Localization of the aquaporin 1 (AQP1) gene within a YAC contig containing the polymorphic markers D7S632 and D7S526. Genomics 25: 599-600, 1995.
[0035101]25689.King, L. S.; Choi, M.; Fernandez, P. C.; Cartron, J.-P.; Agre, P.: Defective urinary concentrating ability due to a complete deficiency of aquaporin-1. New Eng. J. Med. 345: 175-179, 2001.
[0035102]25690.King, L. S.; Nielsen, S.; Agre, P.; Brown, R. H.: Decreased pulmonary vascular permeability in aquaporin-1-null humans. Proc. Nat. Acad. Sci. 99: 1059-1063, 2002.
[0035103]25691.Knepper, M. A.: The aquaporin family of molecular water channels. Proc. Nat. Acad. Sci. 91: 6255-6258, 1994.
[0035104]25692.Ma, T.; Yang, B.; Gillespie, A.; Carlson, E. J.; Epstein, C. J.; Verkman, A. S.: Severely impaired urinary concentrating ability in transgenic mice lacking aquaporin-1 water channels. J. Biol. Chem. 273: 4296-4299, 1998.
[0035105]25693.Maurel, C.; Reizer, J.; Schroeder, J. I.; Chrispeels, M.: The vacuolar membrane protein gamma-TIP creates water specific channels in Xenopus oocytes. EMBO J. 12: 2241-2247, 1993.
[0035106]25694.Moon, C.; Preston, G. M.; Griffin, C. A.; Jabs, E. W.; Agre, P. : The human aquaporin-CHIP gene: structure, organization, and chromosomal localization. J. Biol. Chem. 268: 15772-15778, 1993.
[0035107]25695.Moon, C.; Williams, J. B.; Preston, G. M.; Copeland, N. G.; Gilbert, D. J.; Nathans, D.; Jenkins, N. A.; Agre, P.: The mouse Aquaporin-1 gene. Genomics 30: 354-357, 1995.
[0035108]25696.Murata, K.; Mitsuoka, K.; Hirai, T.; Walz, T.; Agre, P.; Heymann, J. B.; Engel, A.; Fujiyoshi, Y.: Structural determinants of water permeation through aquaporin-1. Nature 407: 599-605, 2000.
[0035109]25697.Parsons, S. F.; Jones, J.; Anstee, D. J.; Judson, P. A.; Gardner, B.; Wiener, E.; Poole, J.; Illum, N.; Wickramasinghe, S. N.: A novel form of congenital dyserythropoietic anemia associated with deficiency of erythroid CD44 and a unique blood group phenotype [In(a-b-), Co(a-b-)]. Blood 83: 860-868, 1994.
[0035110]25698.Pasquali, F.; Bernasconi, P.; Casalone, R.; Fraccaro, M.; Bernasconi, C.; Lazzarino, M.; Morra, E.; Alessandrino, E. P.; Marchi, M. A.; Sanger, R.: Pathogenic significance of 'pure' monosomy 7 in myeloproliferative disorders: analysis of 14 cases.. Hum. Genet. 62: 40-51, 1982.
[0035111]25699.Preston, G. M.; Agre, P.: Isolation of the cDNA for erythrocyte integral membrane protein of 28 kilodaltons: member of an ancient channel family. Proc. Nat. Acad. Sci. 88: 11110-11114, 1991.
[0035112]25700.Preston, G. M.; Smith, B. L.; Zeidel, M. L.; Moulds, J. J.; Agre, P.: Mutations in aquaporin-1 in phenotypically normal humans without functional CHIP water channels. Science 265: 1585-1587, 1994.
[0035113]25701.Smith, B. L.; Baumgarten, R.; Nielsen, S.; Raben, D.; Zeidel, M. L.; Agre, P.: Concurrent expression of erythroid and renal aquaporin CHIP and appearance of water channel activity in perinatal rats. J. Clin. Invest. 92: 2035-2041, 1993.
[0035114]25702.Smith, B. L.; Preston, G. M.; Spring, F.; Anstee, D. J.; Agre, P.: Human red blood cell aquaporin CHIP: I. Molecular characterization of ABH and Colton blood group antigens. J. Clin. Invest. 94: 1043-1049, 1994.
[0035115]25703.Sui, H.; Han, B.-G.; Lee, J. K.; Walian, P.; Jap, B. K.: Structural basis of water-specific transport through the AQP1 water channel. Nature 414: 872-878, 2001.
[0035116]25704.Tang, W.; Cai, S.-P.; Eng, B.; Poon, M.-C.; Waye, J. S.; Illum, N.; Chui, D. H. K.: Expression of embryonic zeta-globin and epsilon-globin chains in a 10-year-old girl with congenital anemia. Blood 81: 1636-1640, 1993.
[0035117]25705.Wickramasinghe, S. N.; Illum, N.; Wimberley, P. D.: Congenital dyserythropoietic anaemia with novel intra-erythroblastic and intra-erythrocytic inclusions. Brit. J. Haemat. 79: 322-330, 1991.
[0035118]25706.Yang, B.; Ma, T.; Verkman, A. S.: Erythrocyte water permeability and renal function in double knockout mice lacking aquaporin-1 and aquaporin-3. J. Biol. Chem. 276: 624-628, 2001.
[0035119]25707.de The, H.; Chomienne, C.; Lanotte, M.; Degos, L.; Dejean, A.: The t(15;17) translocation of acute promyelocytic leukaemia fuses the retinoic acid receptor alpha gene to a novel transcribed locus. Nature 347: 558-561, 1990.
[0035120]25708.de The, H.; Lavau, C.; Marchio, A.; Chomienne, C.; Degos, L.; Dejean, A.: The PMLRAR-alpha fusion mRNA generated by the t(15;17) translocation in acute promyelocytic leukemia encodes a functionally altered RAR. Cell 66: 675-684, 1991.
[0035121]25709.Di Croce, L.; Raker, V. A.; Corsaro, M.; Fazi, F.; Fanelli, M.; Faretta, M.; Fuks, F.; Lo Coco, F.; Kouzarides, T.; Nervi, C.; Minucci, S.; Pelicci, P. G.: Methyltransferase recruitment and DNA hypermethylation of target promoters by an oncogenic transcription factor. Science 295: 1079-1082, 2002.
[0035122]25710.Dyck, J. A.; Maul, G. G.; Miller, W. H., Jr.; Chen, J. D.; Kakizuka, A.; Evans, R. M.: A novel macromolecular structure is a target of the promyelocyte-retinoic acid receptor oncoprotein. Cell 76: 333-343, 1994.
[0035123]25711.Goddard, A. D.; Borrow, J.; Freemont, P. S.; Solomon, E.: Characterization of a zinc finger gene disrupted by the t(15;17) in acute promyelocytic leukemia. Science 254: 1371-1374, 1991.
[0035124]25712.Goddard, A. D.; Yuan, J. Q.; Fairbairn, L.; Dexter, M.; Borrow, J.; Kozak, C.; Solomon, E.: Cloning of the murine homolog of the leukemia-associated PML gene. Mammalian Genome 6: 732-737, 1995.
[0035125]25713.Grignani, F.; Ferrucci, P. F.; Testa, U.; Talamo, G.; Fagioli, M.; Alcalay, M.; Mencarelli, A.; Grignani, F.; Peschle, C.; Nicoletti, I.; Pelicci, P. G.: The acute promyelocytic leukemiaspecific PML-RAR-alpha fusion protein inhibits differentiation and promotes survival of myeloid precursor cells. Cell 74: 423-431, 1993.
[0035126]25714.Diverio, D.; Lo Coco, F.; D'Adamo, F.; Biondi, A.; Fagioli, M.; Grignani, F.; Rambaldi, A.; Rossi, V.; Avvisati, G.; Petti, M. C.; Testi, A. M.; Liso, V.; Specchia, G.; Fioritoni, G.; Recchia, A.; Frassoni, F.; Ciolli, S.; Pelicci, P. G.: Identification of DNA rearrangements at the retinoic acid receptor-alpha (RAR-alpha) locus in all patients with acute promyelocytic leukemia and mapping of APL breakpoints within the RAR-alpha second intron. Blood 79: 3331-3336, 1992.
[0035127]25715.Khan, M. M.; Nomura, T.; Kim, H.; Kaul, S. C.; Wadhwa, R.; Shinagawa, T.; Ichikawa-Iwata, E.; Zhong, S.; Pandolfi, P. P.; Ishii, S.: Role of PML and PML-RAR-alpha in Madmediated transcriptional repression. Molec. Cell 7: 1233-1243, 2001.
[0035128]25716.Lo Coco, F.; Diverio, D.; Falini, B.; Biondi, A.; Nervi, C.; Pelicci, P. G.: Genetic diagnosis and molecular monitoring in the management of acute promyelocytic leukemia. Blood 94: 12-22, 1999.
[0035129]25717.Pearson, M.; Carbone, R.; Sebastiani, C.; Cioce, M.; Fagioli, M.; Saito, S.; Higashimoto, Y.; Appella, E.; Minucci, S.; Pandolfi, P. P.; Pelicci, P. G.: PML regulates p53 acetylation and premature senescence induced by oncogenic Ras. Nature 406: 207-210, 2000.
[0035130]25718.Tong, J.-H.; Dong, S.; Geng, J.-P.; Huang, W.; Wang, Z.-Y.; Sun, G.-L.; Chen, S.-J.; Chen, Z.; Larsen, C.-J.; Berger, R.: Molecular rearrangements of the MYL gene in acute promyelocytic leukemia (APL, M3) define a breakpoint cluster region as well as some molecular variants. Oncogene 7: 311-316, 1992.
[0035131]25719.Wang, Z. G.; Delva, L.; Gaboli, M.; Rivi, R.; Giorgio, M.; Cordon-Cardo, C.; Grosveld, F.; Pandolfi, P. P.: Role of PML in cell growth and the retinoic acid pathway. Science 279: 1547-1551, 1998.
[0035132]25720.Bunz, F.; Kobayashi, R.; Stillman, B.: cDNAs encoding the large subunit of human replication factor C. Proc. Nat. Acad. Sci. 90: 11014-11018, 1993.
[0035133]25721.Lossie, A. C.; Haugen, B. R.; Wood, W. M.; Camper, S. A.; Gordon, D. F.: Chromosomal localization of the large subunit of mouse replication factor C in the mouse and human. Mammalian Genome 6: 58-59, 1995.
[0035134]25722.Luckow, B.; Bunz, F.; Stillman, B.; Lichter, P.; Schutz, G.: Cloning, expression, and chromosomal localization of the 140-kilodalton subunit of replication factor C from mice and humans. Molec. Cell. Biol. 14: 1626-1634, 1994.
[0035135]25723.Pennaneach, V.; Salles-Passador, I.; Munshi, A.; Brickner, H.; Regazzoni, K.; Dick, F.; Dyson, N.; Chen, T.-T.; Wang, J. Y. J.; Fotedar, R.; Fotedar, A.: The large subunit of replication factor C promotes cell survival after DNA damage in an LxCxE motif- and Rb-dependent manner. Molec. Cell 7: 715-727, 2001.
[0035136]25724.Uchiumi, F.; Ohta, T.; Tanuma, S.: Replication factor C recognizes 5-prime-phosphate ends of telomeres. Biochem. Biophys. Res. Commun. 229: 310-315, 1996.
[0035137]25725.Schmickel, R. D.: Contiguous gene syndromes: a component of recognizable syndromes. J. Pediat. 109: 231-241, 1986.
[0035138]25726.Olson, E.; Srivastava, D.: Molecular pathways controlling heart development. Science 272: 671-676, 1996.
[0035139]25727.Cunningham, J. M.; Vanin, E. F.; Tran, N.; Valentine, M.; Jane, S. M.: The human transcription factor CP2 (TFCP2), a component of the human gamma-globin stage selector protein, maps to chromosome region 12q13 and is within 250 kb of the NF-E2 gene. Genomics 30: 398-399, 1995.
[0035140]25728.Jane, S. M.; Nienhuis, A. W.; Cunningham, J. M.: Hemoglobin switching in man and chicken is mediated by a heteromeric complex between the ubiquitous transcription factor CP2 and a developmentally specific protein. EMBO J. 13: 197-105, 1995.
[0035141]25729.Lambert, J.-C.; Goumidi, L.; Wavrant-De Vrieze, F.; Frigard, B.; Harris, J. M.; Cummings, A.; Coates, J.; Pasquier, F.; Cottel, D.; Gaillac, M.; St. Clair, D.; Mann, D. M. A.; Hardy, J.; Lendon, C. L.; Amouyel, P.; Chartier-Harlin, M.-C.: The transcriptional factor LBP-1c/CP2/LSF gene on chromosome 12 is a genetic determinant of Alzheimer's disease. Hum. Molec. Genet. 9: 2275-2280, 2000.
[0035142]25730.Swendeman, S. L.; Spielholz, C.; Jenkins, N. A.; Gilbert, D. J.; Copeland, N. G.; Sheffery, M.: Characterization of the genomic structure, chromosomal location, promoter, and developmental expression of the alpha-globin transcription factor CP2. J. Biol. Chem. 269: 11663-11671, 1994.
[0035143]25731.Taylor, A. E.; Yip, A.; Brayne, C.; Easton, D.; Evans, J. G.; Xuereb, J.; Cairns, N.; Esiri, M. M.; Rubinsztein, D. C.: Genetic association of an LBP-1c/CP2/LSF gene polymorphism with late onset Alzheimer's disease. J. Med. Genet. 38: 232-233, 2001.
[0035144]25732.Bandara, L. R.; La Thangue, N. B.: Adenovirus E1a prevents the retinoblastoma gene product from complexing with a cellular transcription factor. Nature 351: 494-497, 1991.
[0035145]25733.Chen, C.-R.; Kang, Y.; Siegel, P. M.; Massague, J.: E2F4/5 and p107 as Smad cofactors linking the TGF-beta receptor to c-myc repression. Cell 110: 19-32, 2002.
[0035146]25734.Girling, R.; Partridge, J. F.; Bandara, L. R.; Burden, N.; Totty, N. F.; Hsuan, J. J.; La Thangue, N. B.: A new component of the transcription factor DRTF1/E2F. Nature 362: 83-87, 1993. Note: Correction: Nature 365: 468 only, 1993.
[0035147]25735.Malas, S.; Duthie, S. M.; Mohri, F.; Lovell-Badge, R.; Episkopou, V.: Cloning and mapping of the human SOX1: a highly conserved gene expressed in the developing brain. Mammalian Genome 8: 866-868, 1997.
[0035148]25736.Zhang, Y.; Venkatraj, V. S.; Fischer, S. G.; Warburton, D.; Chellappan, S. P.: Genomic cloning and chromosomal assignment of the E2F dimerization partner TFDP gene family. Genomics 39: 95-98, 1997.
[0035149]25737.Moloney, D. J.; Panin, V. M.; Johnston, S. H.; Chen, J.; Shao, L.; Wilson, R.; Wang, Y.; Stanley, P.; Irvine, K. D.; Haltiwanger, R. S.; Vogt, T. F.: Fringe is a glycosyltransferase that modifies Notch. Nature 406: 369-375, 2000.
[0035150]25738.Sestan, N.; Artavanis-Tsakonas, S.; Rakic, P.: Contact-dependent inhibition of cortical neurite growth mediated by Notch signaling. Science 286: 741-746, 1999.
[0035151]25739.Tanigaki, K.; Nogaki, F.; Takahashi, J.; Tashiro, K.; Kurooka, H.; Honjo, T.: Notch1 and Notch3 instructively restrict bFGF-responsive multipotent neural progenitor cells to an astroglial fate. Neuron 29: 45-55, 2001.
[0035152]25740.Barton, D. E.; Foellmer, B. E.; Du, J.; Tamm, J.; Derynck, R.; Francke, U.: Chromosomal mapping of genes for transforming growth factors beta-2 and beta-3 in man and mouse: dispersion of TGF-beta gene family. Oncogene Res. 3: 323-331, 1988.
[0035153]25741.Dean, M.; Park, M.; Vande Woude, G. F.: Characterization of the rearranged TPRMET oncogene breakpoint. Molec. Cell. Biol. 7: 921-924, 1987.
[0035154]25742.Lemmink, H. H.; Mochizuki, T.; van den Heuvel, L. P. W. J.; Schroder, C. H.; Barrientos, A.; Monnens, L. A. H.; van Oost, B. A.; Brunner, H. G.; Reeders, S. T.; Smeets, H. J. M.: Mutations in the type IV collagen alpha-3 (COL4A3) gene in autosomal recessive Alport syndrome. Hum. Molec. Genet. 3: 1269-1273, 1994.
[0035155]25743.Gibson, R. A.; Buchwald, M.; Roberts, R. G.; Mathew, C. G.: Characterisation of the exon structure of the Fanconi anaemia group C gene by vectorette PCR. Hum. Molec. Genet. 2: 35-38, 1993.
[0035156]25744.Gregersen, N.; Andresen, B. S.; Corydon, M. J.; Corydon, T. J.; Olsen, R. K. J.; Bolund, L.; Bross, P.: Mutation analysis in mitochondrial fatty acid oxidation defects: exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship. Hum. Mutat. 18: 169-189, 2001.
[0035157]25745.Onkenhout, W.; Venizelos, V.; Scholte, H. R.; De Klerk, J. B. C.; Poorthuis, B. J. H. M.: Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial beta-oxidation defects. J. Inherit. Metab. Dis. 24: 337-344, 2001.
[0035158]25746.Lemmink, H. H.; Schroder, C. H.; Monnens, L. A. H.; Smeets, H. J. M.: The clinical spectrum of type IV collagen mutations. Hum. Mutat. 9: 477-499, 1997.
[0035159]25747.Goldmuntz, E.; Wang, Z.; Roe, B. A.; Budarf, M. L.: Cloning, genomic organization, and chromosomal localization of human citrate transport protein to the DiGeorge/velocardiofacial syndrome minimal critical region. Genomics 33: 271-276, 1996.
[0035160]25748.Heisterkamp, N.; Mulder, M. P.; Langeveld, A.; ten Hoeve, J.; Wang, Z.; Roe, B. A.; Groffen, J.: Localization of the human mitochondrial citrate transporter protein gene to chromosome 22q11 in the DiGeorge syndrome critical region. Genomics 29: 451-456, 1995.
[0035161]25749.Iacobazzi, V.; Lauria, G.; Palmieri, F.: Organization and sequence of the human gene for the mitochondrial citrate transport protein. DNA Seq. 7: 127-139, 1997.
[0035162]25750.Kaplan, R. S.; Mayor, J. A.; Wood, D. O.: The mitochondrial tricarboxylate transport protein: cDNA cloning, primary structure, and comparison with other mitochondrial transport proteins. J. Biol. Chem. 268: 13682-13690, 1993.
[0035163]25751.Stoffel, M.; Karayiorgou, M.; Espinosa, R., III; Le Beau, M. M. : The human mitochondrial citrate transporter gene (SLC20A3) maps to chromosome band 22q11 within a region implicated in DiGeorge syndrome, velo-cardio-facial syndrome and schizophrenia. Hum. Genet. 98: 113-115, 1996.
[0035164]25752.Uberbacher, E. C.; Mural, R. J.: Locating protein-coding regions in human DNA sequences by a multiple sensor-neural network approach. Proc. Nat. Acad. Sci. 88: 11261-11265, 1991.
[0035165]25753.Gibson, R. A.; Hajianpour, A.; Buchwald, M.; Mathew, C. G.: Screening the FACC gene for mutations in patients with Fanconi anaemia. (Abstract) Am. J. Hum. Genet. 51 (suppl.): A216 only, 1992.
[0035166]25754.Vidal, R.; Frangione, B.; Rostagno, A.; Mead, S.; Revesz, T.; Plant, G.; Ghiso, J.: A stop-codon mutation in the BRI gene associated with familial British dementia. Nature 399: 776-781, 1999.
[0035167]25755.Joensuu, T.; Blanco, G.; Pakarinen, L.; Sistonen, P.; Kaariainen, H.; Brown, S.; de la Chapelle, A.; Sankila, E.-M.: Refined mapping of the Usher syndrome type III locus on chromosome 3, exclusion of candidate genes, and identification of the putative mouse homologous region. Genomics 38: 255-263, 1996.
[0035168]25756.Lamhonwah, A.-M.; Tein, I.: Carnitine uptake defect: frameshift mutations in the human plasmalemmal carnitine transporter gene. Biochem. Biophys. Res. Commun. 252: 396-401, 1998.
[0035169]25757.Matsuishi, T.; Hirata, K.; Terasawa, K.; Kato, H.; Yoshino, M.; Ohtaki, E.; Hirose, F.; Nonaka, I.; Sugiyama, N.; Ohta, K.: Successful carnitine treatment in two siblings having lipid storage myopathy with hypertrophic cardiomyopathy. Neuropediatrics 16: 6-12, 1985.
[0035170]25758.Nezu, J.; Tamai, I.; Oku, A.; Ohashi, R.; Yabuuchi, H.; Hashimoto, N.; Nikaido, H.; Sai, Y.; Koizumi, A.; Shoji, Y.; Takada, G.; Matsuishi, T.; Yoshino, M.; Kato, H.; Ohura, T.; Tsujimoto, G.; Hayakawa, J.; Shimane, M.; Tsuji, A.: Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter. Nature Genet. 21: 91-94, 1999.
[0035171]25759.Shoji, Y.; Koizumi, A.; Kayo, T.; Ohata, T.; Takahashi, T.; Harada, K.; Takada, G.: Evidence for linkage of human primary systemic carnitine deficiency with D5S436: a novel gene locus on chromosome 5q. Am. J. Hum. Genet. 63: 101-108, 1998.
[0035172]25760.Tamai, I.; Ohashi, R.; Nezu, J.; Yabuuchi, H.; Oku, A.; Shimane, M.; Sai, Y.; Tsuji, A.: Molecular and functional identification of sodium ion-dependent, high affinity human carnitine transporter OCTN2. J. Biol. Chem. 273: 20378-20382, 1998.
[0035173]25761.Tein, I.; De Vivo, D. C.; Bierman, F.; Pulver, P.; De Meirleir, L. J.; Cvitanovic-Sojat, L.; Pagon, R. A.; Bertini, E.; Dionisi-Vici, C.; Servidei, S.; Dimauro, S.: Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy. Pediat. Res. 28: 247-255, 1990.
[0035174]25762.Wang, Y.; Korman, S. H.; Ye, J.; Gargus, J. J.; Gutman, A.; Taroni, F.; Garavaglia, B.; Longo, N.: Phenotype and genotype variation in primary carnitine deficiency. Genet. Med. 3: 387-392, 2001.
[0035175]25763.Engelkamp, D.; Schafer, B. W.; Mattei, M. G.; Erne, P.; Heizmann, C. W.: Six S100 genes are clustered on human chromosome 1q21: identification of two genes coding for the two previously unreported calcium-binding proteins S100D and S100E. Proc. Nat. Acad. Sci. 90: 6547-6551, 1993.
[0035176]25764.Herrera, G. A.; Turbat-Herrera, E. A.; Lott, R. L.: S-100 protein expression by primary and metastatic adenocarcinomas. Am. J. Clin. Path. 89: 168-176, 1988.
[0035177]25765.Isobe, T.; Tsugira, A.; Okuyama, T.: Amino acid sequence of the subunit structure of bovine brain S-100 protein (PAP 1-b). J. Neurochem. 30: 921-923, 1978.
[0035178]25766.Moore, B. W.: A soluble protein characteristic of the nervous system. Biochem. Biophys. Res. Commun. 19: 739-744, 1965.
[0035179]25767.Morii, K.; Tanaka, R.; Takahashi, Y.; Minoshima, S.; Fukuyama, R.; Shimizu, N.; Kuwano, R.: Structure and chromosome assignment of human S100 alpha and beta subunit genes. Biochem. Biophys. Res. Commun. 175: 185-191, 1991.
[0035180]25768.Most, P.; Bernotat, J.; Ehlermann, P.; Pleger, S. T.; Reppel, M.; Borries, M.; Niroomand, F.; Pieske, B.; Janssen, P. M. L.; Eschenhagen, T.; Karczewski, P.; Smith, G. L.; Koch, W. J.; Katus, H. A.; Remppis, A.: S100A1: a regulator of myocardial contractility. Proc. Nat. Acad. Sci. 98: 13889-13894, 2001.
[0035181]25769.Asada, Y.; Nadeau, J. H.: Fert is on mouse chromosome 11, not chromosome 17. Mammalian Genome 5: 830 only, 1994.
[0035182]25770.Hao, Q.-L.; Heisterkamp, N.; Groffen, J.: Isolation and sequence analysis of a novel human tyrosine kinase gene. Molec. Cell. Biol. 9: 1587-1593, 1989.
[0035183]25771.Dryja, T. P.; Grondin, V. J.; Ringens, P.; Cotran, P.; Berson, E. L.; Travis, G.: Isolation of human retinal cDNA fragments homologous to the murine rds gene transcript. (Abstract) Invest. Ophthal. Vis. Sci. 30 (suppl.): 43 only, 1989.
[0035184]25772.Farrar, G. J.; Jordan, S. A.; Kenna, P.; Humphries, M. M.; Kumar-Singh, R.; McWilliam, P.; Allamand, V.; Sharp, E.; Humphries, P.: Autosomal dominant retinitis pigmentosa: localization of a disease gene (RP6) to the short arm of chromosome 6. Genomics 11: 870-874, 1991.
[0035185]25773.Farrar, G. J.; Kenna, P.; Jordan, S. A.; Kumar-Singh, R.; Humphries, M. M.; Sharp, E. M.; Sheils, D. M.; Humphries, P.: A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa. Nature 354: 478-480, 1991.
[0035186]25774.Feist, R. M.; White, M. F., Jr.; Skalka, H.; Stone, E. M.: Choroidal neovascularization in a patient with adult foveomacular dystrophy and a mutation in the retinal degeneration slow gene (pro210-to-arg). Am. J. Ophthal. 118: 259-260, 1994.
[0035187]25775.Felbor, U.; Schilling, H.; Weber, B. H. F.: Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene. Hum. Mutat. 10: 301-309, 1997.
[0035188]25776.Gass, J. D. M.: A clinicopathologic study of a peculiar foveomacular dystrophy. Trans. Am. Ophthal. Soc. 72: 139-155, 1974.
[0035189]25777.Jackson, K. E.; Mitchell, E. B.; Stone, E. M.; Ferrell, R. E.; Gorin, M. B.: The identification of an exon-2 peripherin mutation in a family with heterogeneous manifestations of a butterfly pattern macular dystrophy. (Abstract) Am. J. Hum. Genet. 53 (suppl.): 1177 only, 1993.
[0035190]25778.Jordan, S. A.; Farrar, G. J.; Kumar-Singh, R.; Kenna, P.; Humphries, M. M.; Allamand, V.; Sharp, E. M.; Humphries, P.: Autosomal dominant retinitis pigmentosa (adRP; RP6): cosegregation of RP6 and the peripherin-RDS locus in a late-onset family of Irish origin. Am. J. Hum. Genet. 50: 634-639, 1992.
[0035191]25779.Billingsley, G. D.; Walter, M. A.; Hammond, G. L.; Cox, D. W.: Physical mapping of four serpin genes: alpha-1-antitrypsin, alpha-1-antichymotrypsin, corticosteroid-binding globulin, and protein C inhibitor, within a 280-kb region on chromosome 14q32.1. Am. J. Hum. Genet. 52: 343-353, 1993.
[0035192]25780.Clifton-Bligh, R. J.; Wentworth, J. M.; Heinz, P.; Crisp, M. S.; John, R.; Lazarus, J. H.; Ludgate, M.; Chatterjee, V. K.: Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia. Nature Genet. 19: 399-401, 1998.
[0035193]25781.Bird, T. D.; Koerker, R. M.; Leaird, B. J.; Vlcek, B. W.; Thorning, D. R.: Lipomembranous polycystic osteodysplasia (brain, bone, and fat disease): a genetic cause of presenile dementia. Neurology 33: 81-86, 1983.
[0035194]25782.Paloneva, J.; Manninen, T.; Christman, G.; Hovanes, K.; Mandelin, J.; Adolfsson, R.; Bianchin, M.; Bird, T.; Miranda, R.; Salmaggi, A.; Tranebjaerg, L.; Konttinen, Y.; Peltonen, L.: Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype. Am. J. Hum. Genet. 71: 656-662, 2002.
[0035195]25783.Greco, A.; Ittmann, M.; Barletta, C.; Basilico, C.; Croce, C. M.; Cannizzaro, L. A.; Huebner, K.: Chromosomal localization of human genes required for G(1) progression in mammalian cells. Genomics 4: 240-245, 1989.
[0035196]25784.Ittmann, M.; Greco, A.; Basilico, C.: Isolation of the human gene that complements a temperature-sensitive cell cycle mutation in BHK cells. Molec. Cell. Biol. 7: 3386-3393, 1987.
[0035197]25785.Bonyadi, M.; Cui, W.; Nagase, H.; Akhurst, R. J.: The TGF-beta type II receptor, Tgfbr2, maps to distal mouse chromosome 9. Genomics 33: 328-329, 1996.
[0035198]25786.Chen, R.-H.; Ebner, R.; Derynck, R.: Inactivation of the type II receptor reveals two receptor pathways for the diverse TGF-beta activities. Science 260: 1335-1338, 1993.
[0035199]25787.Eshleman, J. R.; Markowitz, S. D.: Microsatellite instability in inherited and sporadic neoplasms. Curr. Opin. Oncol. 7: 83-89, 1995.
[0035200]25788.Hahm, K.-B.; Cho, K.; Lee, C.; Im, Y.-H.; Chang, J.; Choi, S.-G.; Sorensen, P. H. B.; Thiele, C. J.; Kim, S.-J.: Repression of the gene encoding the TGF-beta type II receptor is a major target of the EWS-FLI1 oncoprotein. Nature Genet. 23: 222-227, 1999.
[0035201]25789.Lin, H. Y.; Wang, X.-F.; Ng-Eaton, E.; Weinberg, R. A.; Lodish, H. F.: Expression cloning of the TGF-beta type II receptor, a functional transmembrane serine/threonine kinase. Cell 68: 775-785, 1992.
[0035202]25790.Lu, S.-L.; Kawabata, M.; Imamura, T.; Akiyama, Y.; Nomizu, T.; Miyazono, K.; Yuasa, Y.: HNPCC associated with germline mutation in the TGF-beta type II receptor gene. (Letter) Nature Genet. 19: 17-18, 1998.
[0035203]25791.Markowitz, S.; Wang, J.; Myeroff, L.; Parsons, R.; Sun, L.; Lutterbaugh, J.; Fan, R. S.; Zborowska, E.; Kinzler, K. W.; Vogelstein, B.; Brattain, M.; Willson, J. K. V.: Inactivation of the type II TGF-beta receptor in colon cancer cells with microsatellite instability. Science 268: 1336-1338, 1995.
[0035204]25792.Mathew, S.; Murty, V. V. V. S.; Cheifetz, S.; George, D.; Massague, J.; Chaganti, R. S. K.: Transforming growth factor receptor gene TGFBR2 maps to human chromosome band 3p22. Genomics 20: 114-115, 1994.
[0035205]25793.Myeroff, L. L.; Parsons, R.; Kim, S.-J.; Hedrick, L.; Cho, K. R.; Orth, K.; Mathis, M.; Kinzler, K. W.; Lutterbaugh, J.; Park, K.; Bang, Y.-J.; Lee, H. Y.; Park, J.-G.; Lynch, H. T.; Roberts, A. B.; Vogelstein, B.; Markowitz, S. D.: A transforming growth factor beta receptor type II gene mutation common in colon and gastric but rare in endometrial cancers with microsatellite instability. Cancer Res. 55: 5545-5547, 1995.
[0035206]25794.Parsons, R.; Myeroff, L. L.; Liu, B.; Willson, J. K. V.; Markowitz, S. D.; Kinzler, K. W.; Vogelstein, B.: Microsatellite instability and mutations of the transforming growth factor beta type II receptor gene in colorectal cancer. Cancer Res. 55: 5548-5550, 1995.
[0035207]25795.Tanaka, S.; Mori, M.; Mafune, K.; Ohno, S.; Sugimachi, K.: A dominant negative mutation of transforming growth factor-beta receptor type II gene in microsatellite stable oesophageal carcinoma. Brit. J. Cancer 82: 1557-1560, 2000.
[0035208]25796.Tannergard, P.; Liu, T.; Weger, A.; Nordenskjold, M.; Lindbloom, A.: Tumorigenesis in colorectal tumors from patients with hereditary non-polyposis colorectal cancer. Hum. Genet. 101: 51-55, 1997.
[0035209]25797.Watanabe, T.; Wu, T.-T.; Catalano, P. J.; Ueki, T.; Satriano, R.; Haller, D. G.; Benson, A. B., III; Hamilton, S. R.: Molecular predictors of survival after adjuvant chemotherapy for colon cancer. New Eng. J. Med. 344: 1196-1206, 2001.
[0035210]25798.Bonnefont, J.-P.; Chretien, D.; Rustin, P.; Robinson, B.; Vassault, A.; Aupetit, J.; Charpentier, C.; Rabier, D.; Saudubray, J.-M.; Munnich, A.: Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis. J. Pediat. 121: 255-258, 1992.
[0035211]25799.Guffon, N.; Lopez-Mediavilla, C.; Dumoulin, R.; Mousson, B.; Godinot, C.; Carrier, H.; Collombet, J. M.; Divry, P.; Mathieu, M.; Guibaud, P.: 2-Ketoglutarate dehydrogenase deficiency, a rare cause of primary hyperlactataemia: report of a new case. J. Inherit. Metab. Dis. 16: 821-830, 1993.
[0035212]25800.Kohlschutter, A.; Behbehani, A.; Langenbeck, U.; Albani, M.; Heidemann, P.; Hoffmann, G.; Kleineke, J.; Lehnert, W.; Wendel, U.: A familial progressive neurodegenerative disease with 2-oxoglutaric aciduria. Europ. J. Pediat. 138: 32-37, 1982.
[0035213]25801.Koike, K.: The gene encoding human 2-oxoglutarate dehydrogenase: structural organization and mapping to chromosome 7p13-p14. Gene 159: 261-266, 1995.
[0035214]25802.Koike, K.; Urata, Y.; Goto, S.: Cloning and nucleotide sequence of the cDNA encoding human 2-oxoglutarate dehydrogenase (lipoamide). Proc. Nat. Acad. Sci. 89: 1963-1967, 1992.
[0035215]25803.Szabo, P.; Cai, X.; Ali, G.; Blass, J. P.: Localization of the gene (OGDH) coding for the E1k component of the alpha-ketoglutarate dehydrogenase complex to chromosome 7p13-p11.2. Genomics 20: 324-326, 1994.
[0035216]25804.Kury, S.; Dreno, B.; Bezieau, S.; Giraudet, S.; Kharfi, M.; Kamoun, R.; Moisan, J.-P.: Identification of SLC39A4, a gene involved in acrodermatitis enteropathica. Nature Genet. 31: 239-240, 2002.
[0035217]25805.Rogers, E. E.; Eide, D. J.; Guerinot, M. L.: Altered selectivity in an Arabidopsis metal transporter. Proc. Nat. Acad. Sci. 97: 12356-12360, 2000.
[0035218]25806.Wang, K.; Pugh, E. W.; Griffen, S.; Doheny, K. F.; Mostafa, W. Z.; al-Aboosi, M. M.; el-Shanti, H.; Gitschier, J.: Homozygosity mapping places the acrodermatitis enteropathica gene on chromosomal region 8q24.3. Am. J. Hum. Genet. 68: 1055-1060, 2001.
[0035219]25807.Haberle, J.; Pauli, S.; Linnebank, M.; Kleijer, W. J.; Bakker, H. D.; Wanders, R. J. A.; Harms, E.; Koch, H. G.: Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia. Hum. Genet. 110: 327-333, 2002.
[0035220]25808.Weve, H.: Ablatio falciformis congenita (retinal fold). Brit. J. Ophthal. 22: 456-470, 1938.
[0035221]25809.Barbosa, J.; Rich, S.; Dunsworth, T.; Swanson, J.: Linkage disequilibrium between insulin-dependent diabetes and the Kidd blood group Jk(b) allele. J. Clin. Endocr. Metab. 55: 193-195, 1982.
[0035222]25810.Harper, P. A.; Healy, P. J.; Dennis, J. A.; O'Brien, J. J.; Rayward, D. H.: Citrullinaemia as a cause of neurological disease in neonatal Friesian calves. Aust. Vet. J. 63: 378-379, 1986.
[0035223]25811.Harper, P. A. W.; Healy, P. J.; Dennis, J. A.: Animal model of human disease: citrullinemia (argininosuccinate synthetase deficiency). Am. J. Path. 135: 1213-1215, 1989.
[0035224]25812.Jackson, M. J.; Surh, L. C.; O'Brien, W. E.; Beaudet, A. L.: Assignment of the structural gene for argininosuccinate synthetase to proximal mouse chromosome 2. Genomics 6: 545-547, 1990.
[0035225]25813.Kobayashi, K.; Ichiki, H.; Saheki, T.; Tatsuno, M.; Uchiyama, C.; Nukada, O.; Yoda, T.: Structure of an abnormal messenger RNA for argininosuccinate synthetase in citrullinemia. Hum. Genet. 76: 27-32, 1987.
[0035226]25814.Kobayashi, K.; Jackson, M. J.; Tick, D. B.; O'Brien, W. E.; Beaudet, A. L.: Characterization of nine mutant alleles causing citrullinemia. (Abstract) Am. J. Hum. Genet. 45 (suppl.): A201 only, 1989.
[0035227]25815.Kobayashi, K.; Jackson, M. J.; Tick, D. B.; O'Brien, W. E.; Beaudet, A. L.: Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia. J. Biol. Chem. 265: 11361-11367, 1990.
[0035228]25816.Kobayashi, K.; Kakinoki, H.; Fukushige, T.; Shaheen, N.; Terazono, H.; Saheki, T.: Nature and frequency of mutations in the argininosuccinate synthetase gene that cause classical citrullinemia. Hum. Genet. 96: 454-463, 1995.
[0035229]25817.Kobayashi, K.; Rosenbloom, C.; Beaudet, A. L.; O'Brien, W. E. : Additional mutations in argininosuccinate synthetase causing citrullinemia. Molec. Biol. Med. 8: 95-100, 1991.
[0035230]25818.Kobayashi, K.; Saheki, T.; Imamura, Y.; Noda, T.; Inoue, I.; Matuo, S.; Hagihara, S.; Nomiyama, H.; Jinno, Y.; Shimada, K.: Messenger RNA coding for argininosuccinate synthetase in citrullinemia. Am. J. Hum. Genet. 38: 667-680, 1986.
[0035231]25819.Kobayashi, K.; Shaheen, N.; Terazono, H.; Saheki, T.: Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia. Am. J. Hum. Genet. 55: 1103-1112, 1994.
[0035232]25820.Li, C.-M.; Chao, H.-K.; Liu, Y.-F.; Su, T.-S.: A nonsense mutation is responsible for the RNA-negative phenotype in human citrullinaemia. Europ. J. Hum. Genet. 9: 685-689, 2001.
[0035233]25821.Northrup, H.; Lathrop, M.; Lu, S.-Y.; Daiger, S. P.; Beaudet, A. L.; O'Brien, W. E.: Multilocus linkage analysis with the human argininosuccinate synthetase gene. Genomics 5: 442-444, 1989.
[0035234]25822.Sase, M.; Kobayashi, K.; Imamura, Y.; Saheki, T.; Nakano, K.; Miura, S.; Mori, M.: Level of translatable messenger RNA coding for argininosuccinate synthetase in the liver of the patients with quantitative-type citrullinemia. Hum. Genet. 69: 130-134, 1985.
[0035235]25823.Todd, S.; Naylor, S. L.: New chromosomal mapping assignments for argininosuccinate synthetase pseudogene 1, interferon-beta-3 gene, and the diazepam binding inhibitor gene. Somat. Cell Molec. Genet. 18: 381-385, 1992.
[0035236]25824.Hsieh, C.-L.; Swaroop, A.; Francke, U.: Chromosomal localization and cDNA sequence of human RALB, a GTP binding protein. Somat. Cell Molec. Genet. 16: 407-410, 1990.
[0035237]25825.Ahmad, F.; Goldstein, B. J.: Functional association between the insulin receptor and the transmembrane protein-tyrosine phosphatase LAR in intact cells. J. Biol. Chem. 272: 448-457, 1997.
[0035238]25826.Disteche, C. M.; Adler, D. A.; Tedder, T. F.; Saito, H.: Mapping of the genes for LYAM1, a new lymphocyte adhesion molecule, and for LAR, a new receptor-linked protein tyrosine phosphatase, to human chromosome 1 (Abstract) Cytogenet. Cell Genet. 51: 990 only, 1989.
[0035239]25827.Harder, K. W.; Saw, J.; Miki, N.; Jirik, F.: Coexisting amplifications of the chromosome 1p32 genes (PTPRF and MYCL1) encoding protein tyrosine phosphatase LAR and L-myc in a small cell lung cancer line. Genomics 27: 552-553, 1995.
[0035240]25828.Jirik, F. R.; Harder, K. W.; Melhado, I. G.; Anderson, L. L.; Duncan, A. M. V.: The gene for leukocyte antigen-related tyrosine phosphatase (LAR) is localized to human chromosome 1p32, a region frequently deleted in tumors of neuroectodermal origin. Cytogenet. Cell Genet. 61: 266-268, 1992.
[0035241]25829.Nam, H.-J.; Poy, F.; Krueger, N. X.; Saito, H.; Frederick, C. A. : Crystal structure of the tandem phosphatase domains of RPTP LAR. Cell 97: 449-457, 1999.
[0035242]25830.O'Grady, P.; Krueger, N. X.; Streuli, M.; Saito, H.: Genomic organization of the human LAR protein tyrosine phosphatase gene and alternative splicing in the extracellular fibronectin type-III domains. J. Biol. Chem. 269: 25193-25199, 1994.
[0035243]25831.Schaapveld, R. Q.; Schepens, J. T.; Robinson, G. W.; Attema, J.; Oerlemans, F. T.; Fransen, J. A.; Streuli, M.; Wieringa, B.; Hennighausen, L.; Hendriks, W. J.: Impaired mammary gland development and function in mice lacking LAR receptor-like tyrosine phosphatase activity. Dev. Biol. 188: 134-146, 1997.
[0035244]25832.Schaapveld, R. Q. J.; van den Maagdenberg, A. M. J. M.; Schepens, J. T. G.; Olde Weghuis, D.; Geurts van Kessel, A.; Wieringa, B.; Hendriks, W. J. A. J.: The mouse gene Ptprf encoding the leukocyte common antigen-related molecule LAR: cloning, characterization, and chromosomal localization. Genomics 27: 124-130, 1995.
[0035245]25833.Tsujikawa, K.; Kawakami, N.; Uchino, Y.; Ichijo, T.; Furukawa, T.; Saito, H.; Yamamoto, H.: Distinct functions of the two protein tyrosine phosphatase domains of LAR (leukocyte common antigen-related) on tyrosine dephosphorylation of insulin receptor. Molec. Endocr. 15: 271-280, 2001.
[0035246]25834.Ali, R. R.; Sarra, G.-M.; Stephens, C.; de Alwis, M.; Bainbridge, J. W. B.; Munro, P. M.; Fauser, S.; Reichell, M. B.; Kinnon, C.; Hunt, D. M.; Bhattacharya, S. S.; Thrasher, A. J.: Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy. Nature Genet. 25: 306-310, 2000.
[0035247]25835.Bascom, R. A.; Connell, G.; Garcia-Heras, J.; Collins, L.; Ledbetter, D.; Molday, R. S.; Kalnins, V.; McInnes, R. R.: Molecular and ultrastructural characterization of the products of the human retinopathy candidate genes ROM1 and RDS. (Abstract) Am. J. Hum. Genet. 47 (suppl.): A101 only, 1990.
[0035248]25836.Connell, G.; Bascom, R.; Molday, L.; Reid, D.; McInnes, R. R.; Molday, R. S.: Photoreceptor peripherin is the normal product of the gene responsible for retinal degeneration in the rds mouse. Proc. Nat. Acad. Sci. 88: 723-726, 1991.
[0035249]25837.Demant, P.; Ivanyi, D.; van Nie, R.: The map position of the rds gene on the 17th chromosome of the mouse. Tissue Antigens 13: 53-55, 1979.
[0035250]25838.Inoue, C.; Shiga, K.; Takasawa, S.; Kitagawa, M.; Yamamoto, H.; Okamoto, H.: Evolutionary conservation of the insulinoma gene rig and its possible function. Proc. Nat. Acad. Sci. 84: 6659-6662, 1987.
[0035251]25839.Kitagawa, M.; Takasawa, S.; Kikuchi, N.; Itoh, T.; Teraoka, H.; Yamamoto, H.; Okamoto, H.: Rig encodes ribosomal protein S15: the primary structure of mammalian ribosomal protein S15. FEBS Lett. 283: 210-214, 1991.
[0035252]25840.Shiga, K.; Yamamoto, H.; Okamoto, H.: Isolation and characterization of the human homologue of rig and its pseudogenes: the functional gene has features characteristic of housekeeping genes. Proc. Nat. Acad. Sci. 87: 3594-3598, 1990.
[0035253]25841.Brody, L. C.; Abel, K. J.; Castilla, L. H.; Couch, F. J.; McKinley, D. R.; Yin, G.-Y.; Ho, P. P.; Merajver, S.; Chandrasekharappa, S. C.; Xu, J.; Cole, J. L.; Struewing, J. P.; Valdes, J. M.; Collins, F. S.; Weber, B. L.: Construction of a transcription map surrounding the BRCA1 locus of human chromosome 17. Genomics 25: 238-247, 1995.
[0035254]25842.Hloch, P.; Schiedner, G.; Stahl, H.: Complete cDNA sequence of the human p68 protein. Nucleic Acids Res. 18: 3045, 1990.
[0035255]25843.Iggo, R.; Gough, A.; Xu, W.; Lane, D. P.; Spurr, N. K.: Chromosome mapping of the human gene encoding the 68-kDa nuclear antigen (p68) by using the polymerase chain reaction. Proc. Nat. Acad. Sci. 86: 6211-6214, 1989.
[0035256]25844.Iggo, R. D.; Xu, W.; Lane, D. P.; Gough, A.; Spurr, N. K.: Assignment of P68 to chromosome 17 using PCR. (Abstract) Cytogenet. Cell Genet. 51: 1017, 1989.
[0035257]25845.Acker, J.; Mattei, M.-G.; Wintzerith, M.; Roeckel, N.; Depetris, D.; Vigneron, M.; Kedinger, C.: Chromosomal localization of human RNA polymerase II subunit genes. Genomics 20: 496-499, 1994.
[0035258]25846.Schulze, A.; Hansen, C.; Skakkebaek, N. E.; Brondum-Nielsen, K.; Ledbetter, D. H.; Tommerup, N.: Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint. Nature Genet. 12: 452-454, 1996.
[0035259]25847.Schweizer, J.; Zynger, D.; Francke, U.: In vivo nuclease hypersensitivity studies reveal multiple sites of parental origin-dependent differential chromatin conformation in the 150 kb SNRPN transcription unit. Hum. Molec. Genet. 8: 555-566, 1999.
[0035260]25848.Shemer, R.; Hershko, A. Y.; Perk, J.; Mostoslavsky, R.; Tsuberi, B.; Cedar, H.; Buiting, K.; Razin, A.: The imprinting box of the Prader-Willi/Angelman syndrome domain. Nature Genet. 26: 440-443, 2000.
[0035261]25849.Sun, Y.; Nicholls, R. D.; Butler, M. G.; Saitoh, S.; Hainline, B. E.; Palmer, C. G.: Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient. Hum. Molec. Genet. 5: 517-524, 1996.
[0035262]25850.Sutcliffe, J. S.; Nakao, M.; Christian, S.; Orstavik, K. H.; Tommerup, N.; Ledbetter, D. H.; Beaudet, A. L.: Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region. Nature Genet. 8: 52-58, 1994.
[0035263]25851.Wirth, J.; Back, E.; Huttenhofer, A.; Nothwang, H.-G.; Lich, C.; Gross, S.; Menzel, C,; Schinzel, A.; Kioschis, P.; Tommerup, N.; Ropers, H.-H.; Horsthemke, B.; Buiting, K.: A translocation breakpoint cluster disrupts the newly defined 3-prime end of the SNURF-SNRPN transcription unit on chromosome 15. Hum. Molec. Genet. 10: 201-210, 2001.
[0035264]25852.Critcher, R.; Stitson, R. N. M.; Wade-Martins, R.; Easty, D. J.; Farr, C. J.: Assignment of Sox4 to mouse chromosome 13 bands A3-A5 by fluorescence in situ hybridization; refinement of the human SOX4 location to 6p22.3 and of SOX20 to chromosome 17p12.3. Cytogenet. Cell Genet. 81: 294-295, 1998.
[0035265]25853.Denny, P.; Swift, S.; Connor, F.; Ashworth, A.: An SRY-related gene expressed during spermatogenesis in the mouse encodes a sequence-specific DNA-binding protein. EMBO J. 11: 3705-3712, 1992.
[0035266]25854.Farr, C. J.; Easty, D. J.; Ragoussis, J.; Collignon, J.; Lovell-Badge, R.; Goodfellow, P. N.: Characterization and mapping of the human SOX4 gene. Mammalian Genome 4: 577-584, 1993.
[0035267]25855.Hansen, G. M.; Skapura, D.; Justice, M. J.: Genetic profile of insertion mutations in mouse leukemias and lymphomas. Genome Res. 10: 237-243, 2000.
[0035268]25856.Li, J.; et al; et al: Leukaemia disease genes: large-scale cloning and pathway predictions. Nature Genet. 23: 348-353, 1999.
[0035269]25857.Lund, A. H.; Turner, G.; Trubetskoy, A.; Verhoeven, E.; Wientjens, E.; Hulsman, D.; Russell, R.; DePinho, R. A.; Lenz, J.; van Lohuizen, M.: Genome-wide retroviral insertional tagging of genes involved in cancer in Cdkn2a-deficient mice. Nature Genet. 32: 160-165, 2002.
[0035270]25858.Suzuki, T.; Shen, H.; Akagi, K.; Morse, H. C., III; Malley, J. D.; Naiman, D. Q.; Jenkins, N. A.; Copeland, N. G.: New genes involved in cancer identified by retroviral tagging. Nature Genet. 32: 166-174, 2002. Note: Erratum: Nature Genet. 32: 331 only, 2002.
[0035271]25859.van de Wetering, M.; Oosterwegel, M.; van Norren, K.; Clevers, H.: Sox-4, an Sry-like HMG box protein, is a transcriptional activator is lymphocytes. EMBO J. 12: 3847-3854, 1993.
[0035272]25860.Shoyab, M.; McDonald, V. L.; Bradley, J. G.; Todaro, G. J.: Amphiregulin: a bifunctional growth-modulating glycoprotein produced by the phorbol 12-myristate 13-acetate-treated human breast adenocarcinoma cell line MCF-7. Proc. Nat. Acad. Sci. 85: 6528-6532, 1988.
[0035273]25861.Shoyab, M.; Plowman, G. D.; McDonald, V. L.; Bradley, J. G.; Todaro, G. J.: Structure and function of human amphiregulin: a member of the epidermal growth factor family. Science 243: 1074-1076, 1989.
[0035274]25862.Donahue, R. P.; Bias, W. B.; Renwick, J. H.; McKusick, V. A.: Probable assignment of the Duffy blood group locus to chromosome 1 in man. Proc. Nat. Acad. Sci. 61: 949-955, 1968.
[0035275]25863.Jiang, Y.; Armstrong, D.; Albrecht, U.; Atkins, C. M.; Noebels, J. L.; Eichele, G.; Sweatt, J. D.; Beaudet, A. L.: Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation. Neuron 21: 799-811, 1998.
[0035276]25864.Kishino, T.; Lalande, M.; Wagstaff, J.: UBE3A/E6-AP mutations cause Angelman syndrome. Nature Genet. 15: 70-73, 1997.
[0035277]25865.Matsuura, T.; Sutcliffe, J. S.; Fang, P.; Galjaard, R.-J.; Jiang, Y.; Benton, C. S.; Rommens, J. M.; Beaudet, A. L.: De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nature Genet. 15: 74-77, 1997.
[0035278]25866.Ono, H.; Kuno, Y.; Tanaka, H.; Yamashina, M.; Tsuyoshi, T.; Kondo, N.; Orii, T.: A case of paroxysmal nocturnal hemoglobinuria without deficiency of decay-accelerating factor on erythrocytes. Blood 75: 1746-1747, 1990.
[0035279]25867.Petranka, J. G.; Fleenor, D. E.; Sykes, K.; Kaufman, R. E.; Rosse, W. F.: Structure of the CD59-encoding gene: further evidence of a relationship to murine lymphocyte antigen Ly-6 protein. Proc. Nat. Acad. Sci. 89: 7876-7879, 1992.
[0035280]25868.Rosse, W. F.: Personal Communication. Durham, N. C. 6/3/1993.
[0035281]25869.Rosse, W. F.; Parker, C. J.: Paroxysmal nocturnal hemoglobinuria. Clin. Haemat. 14: 105-125, 1985.
[0035282]25870.Rother, R. P.; Rollins, S. A.; Mennone, J.; Chodera, A.; Fidel, S. A.; Bessler, M.; Hillmen, P.; Squinto, S. P.: Expression of recombinant transmembrane CD59 in paroxysmal nocturnal hemoglobinuria B cells confers resistance to human complement. Blood 84: 2604-2611, 1994.
[0035283]25871.Tone, M.; Walsh, L. A.; Waldmann, H.: Gene structure of human CD59 and demonstration that discrete mRNAs are generated by alternative polyadenylation. J. Molec. Biol. 227: 971-976, 1992.
[0035284]25872.Walsh, L. A.; Tone, M.; Thiru, S.; Waldmann, H.: The CD59 antigen--a multifunctional molecule. Tissue Antigens 40: 213-220, 1992.
[0035285]25873.Yamashina, M.; Ueda, E.; Kinoshita, T.; Takami, T.; Ojima, A.; Ono, H.; Tanaka, H.; Kondo, N.; Orii, T.; Okada, N.; Okada, H.; Inoue, K.; Kitani, T.: Inherited complete deficiency of 20-kilodalton homologous restriction factor (CD59) as a cause of paroxysmal nocturnal hemoglobinuria. New Eng. J. Med. 323: 1184-1189, 1990.
[0035286]25874.Milatovich, A.; Bolger, G.; Michaeli, T.; Francke, U.: Chromosome localizations of genes for five cAMP-specific phosphodiesterases in man and mouse. Somat. Cell Molec. Genet. 20: 75-86, 1994.
[0035287]25875.Loughney, K.; Martins, T. J.; Harris, E. A. S.; Sadhu, K.; Hicks, J. B.; Sonnenburg, W. K.; Beavo, J. A.; Ferguson, K.: Isolation and characterization of cDNAs corresponding to two human calcium, calmodulin-regulated, 3-prime,5-prime-cyclic nucleotide phosphodiesterases. J. Biol. Chem. 271: 796-806, 1996.
[0035288]25876.Wilson, D. E.; McKenna, L.: Assignment of the human gene for phosphodiesterase 1A to chromosome 4. (Abstract) Am. J. Hum. Genet. 43: A162 only, 1988.
[0035289]25877.Maruo, Y.; Nishizawa, K.; Sato, H.; Sawa, H.; Shimada, M.: Prolonged unconjugated hyperbilirubinemia associated with breast milk and mutations of the bilirubin uridine diphosphateglucuronosyltransferase gene. Pediatrics 106: e59, 2000. Note: Electronic Article.
[0035290]25878.Miles, J. S.; Moss, J. E.; Taylor, B. A.; Burchell, B.; Wolf, C. R.: Mapping genes encoding drug-metabolizing enzymes in recombinant inbred mice. Genomics 11: 309-316, 1991.
[0035291]25879.Moghrabi, N.; Clarke, D. J.; Boxer, M.; Burchell, B.: Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2. Genomics 18: 171-173, 1993.
[0035292]25880.Moghrabi, N.; Clarke, D. J.; Burchell, B.; Boxer, M.: Cosegregation of intragenic markers with a novel mutation that causes Crigler-Najjar syndrome type I: implication in carrier detection and prenatal diagnosis. Am. J. Hum. Genet. 53: 722-729, 1993.
[0035293]25881.Moghrabi, N.; Sutherland, L.; Wooster, R.; Povey, S.; Boxer, M.; Burchell, B.: Chromosomal assignment of human phenol and bilirubin UDP-glucuronosyltransferase genes (UGT1Asubfamily). Ann. Hum. Genet. 56: 81-91, 1992.
[0035294]25882.Mojarrabi, B.; Butler, R.; Mackenzie, P. I.: cDNA cloning and characterization of the human UDP glucuronosyltransferase, UGT1A3. Biochem. Biophys. Res. Commun. 225: 785-790, 1996.
[0035295]25883.Monaghan, G.; McLellan, A.; McGeeban, A.; Li Volti, S.; Mollica, F.; Salemi, I.; Din, Z.; Cassidy, A.; Hume, R.; Burchell, B.: Gilbert's syndrome is a contributory factor in prolonged unconjugated hyperbilirubinemia of the newborn. J. Pediat. 134: 441-446, 1999.
[0035296]25884.Nagai, F.; Homma, H.; Tanase, H.; Matsui, M.: Studies on the genetic linkage of bilirubin and androsterone UDP-glucuronyltransferases by cross-breeding of two mutant rat strains. Biochem. J. 252: 897-900, 1988.
[0035297]25885.Peters, W. H. M.; Jansen, P. L. M.; Nauta, H.: The molecular weights of UDPglucuronyltransferase determined with radiation-inactivation analysis: a molecular model of bilirubin UDP-glucuronyltransferase. J. Biol. Chem. 259: 11701-11705, 1984.
[0035298]25886.Ritter, J. K.; Chen, F.; Sheen, Y. Y.; Tran, H. M.; Kimura, S.; Yeatman, M. T.; Owens, I. S.: A novel complex locus UGT1 encodes human bilirubin, phenol, and other UDPglucuronosyltransferase isozymes with identical carboxyl termini. J. Biol. Chem. 267: 3257-3261, 1992.
[0035299]25887.Ritter, J. K.; Crawford, J. M.; Owens, I. S.: Cloning of two human liver bilirubin UDPglucuronosyltransferase cDNAs with expression in COS-1 cells. J. Biol. Chem. 266: 1043-1047, 1991.
[0035300]25888.Ritter, J. K.; Yeatman, M. T.; Ferreira, P.; Owens, I. S.: Identification of a genetic alteration in the code for bilirubin UDP-glucuronosyltransferase in the UGT1 gene complex of a Crigler-Najjar type I patient. J. Clin. Invest. 90: 150-155, 1992.
[0035301]25889.Ritter, J. K.; Yeatman, M. T.; Kaiser, C.; Gridelli, B.; Owens, I. S.: A phenylalanine codon deletion at the UGT1 gene complex locus of a Crigler-Najjar type I patient generates a pHsensitive bilirubin UDP-glucuronosyltransferase. J. Biol. Chem. 268: 23573-23579, 1993.
[0035302]25890.Rosatelli, M. C.; Meloni, A.; Faa, V.; Saba, L.; Crisponi, G.; Clemente, M. G.; Meloni, G.; Piga, M. T.; Cao, A.: Molecular analysis of patients of Sardinian descent with Crigler-Najjar syndrome type I. J. Med. Genet. 34: 122-125, 1997.
[0035303]25891.Sampietro, M.; Lupica, L.; Perrero, L.; Comino, A.; Martinez di Montemuros, F.; Cappellini, M. D.; Fiorelli, G.: The expression of uridine diphosphate glucuronosyltransferase gene is a major determinant of bilirubin level in heterozygous beta-thalassaemia and in glucose-6-phosphate dehydrogenase deficiency. Brit. J. Haemat. 99: 437-439, 1997.
[0035304]25892.Sato, H.; Sakai, Y.; Koiwai, O.; Watanabe, T.: Mapping of the mouse bilirubin UDPglucuronosyltransferase gene (Gnt-1) to chromosome 1 by restriction fragment length variations. Biochem. Genet. 30: 347-352, 1992.
[0035305]25893.Seppen, J.; Bosma, P. J.; Goldhoorn, B. G.; Bakker, C. T. M.; Chowdhury, J. R.; Chowdhury, N. R.; Jansen, P. L. M.; Oude Elferink, R. P. J.: Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase. J. Clin. Invest. 94: 2385-2391, 1994.
[0035306]25894.Strassburg, C. P.; Oldhafer, K.; Manns, M. P.; Tukey, R. H.: Differential expression of the UGT1A locus in human liver, biliary, and gastric tissue: identification of UGT1A7 and UGT1A10 transcripts in extrahepatic tissue. Molec. Pharm. 52: 212-220, 1997.
[0035307]25895.Tukey, R. H.; Strassburg, C. P.: Human UDP-glucuronosyltransferases: metabolism, expression, and disease. Annu. Rev. Pharm. Toxicol. 40: 581-616, 2000.
[0035308]25896.Ueyama, H.; Koiwai, O.; Soeda, Y.; et al.: Analysis of the promoter of human bilirubin UDP-glucuronosyltransferase gene (UGT1*1) in relevance to Gilbert's syndrome. Hepatol. Res. 9: 152-163, 1997.
[0035309]25897.van Es, H. H.; Bout, A.; Liu, J.; Anderson, L.; Duncan, A. M.; Bosma, P.; Oude Elferink, R.; Jansen, P. L.; Roy Chowdhury, J.; Schurr, E.: Assignment of the human UDP glucuronosyltransferase gene (UGT1A1) to chromosome region 2q37. Cytogenet. Cell Genet. 63: 114-116, 1993.
[0035310]25898.Wooster, R.; Sutherland, L.; Ebner, T.; Clarke, D.; Da Cruz e Silva, O.; Burchell, B.: Cloning and stable expression of a new member of the human liver phenol/bilirubin:UDPglucuronosyltransferase cDNA family. Biochem. J. 278: 465-469, 1991.
[0035311]25899.Yamamoto, K.; Soeda, Y.; Kamisako, T.; Hosaka, H.; Fukano, M.; Sato, H.; Fujiyama, Y.; Adachi, Y.; Satoh, Y.; Bamba, T.: Analysis of bilirubin uridine 5-prime-diphosphate (UDP)-glucuronosyltransferase gene mutations in seven patients with Crigler-Najjar syndrome type II. J. Hum. Genet. 43: 111-114, 1998.
[0035312]25900.James, P. F.; Grupp, I. L.; Grupp, G.; Woo, A. L.; Askew, G. R.; Croyle, M. L.; Walsh, R. A.; Lingrel, J. B.: Identification of a specific role for the Na,K-ATPase alpha-2 isoform as a regulator of calcium in the heart. Molec. Cell 3: 555-563, 1999.
[0035313]25901.Kent, R. B.; Fallows, D. A.; Geissler, E.; Glaser, T.; Emanuel, J. R.; Lalley, P. A.; Levenson, R.; Housman, D. E.: Genes encoding alpha and beta subunits of Na,K-ATPase are located on three different chromosomes in the mouse. Proc. Nat. Acad. Sci. 84: 5369-5373, 1987.
[0035314]25902.Yang-Feng, T. L.; Schneider, J. W.; Lindgren, V.; Shull, M. M.; Benz, E. J., Jr.; Lingrel, J. B.; Francke, U.: Chromosomal localization of human Na+,K+-ATPase alpha- and beta-subunit genes. Genomics 2: 128-138, 1988.
[0035315]25903.Kawakami, K.; Nojima, H.; Ohta, T.; Nagano, K.: Molecular cloning and sequence analysis of human Na,K-ATPase beta-subunit. Nucleic Acids Res. 14: 2833-2844, 1986.
[0035316]25904.Lane, L. K.; Shull, M. M.; Whitmer, K. R.; Lingrel, J. B.: Characterization of two genes for the human Na,K-ATPase beta subunit. Genomics 5: 445-453, 1989.
[0035317]25905.Gloor, S.; Antonicek, H.; Sweadner, K. J.; Pagliusi, S.; Frank, R.; Moos, M.; Schachner, M.: The adhesion molecule on glia (AMOG) is a homologue of the beta subunit of the Na,KATPase. J. Cell Biol. 110: 165-174, 1990.
[0035318]25906.Hsieh, C.-L.; Cheng-Deutsch, A.; Gloor, S.; Schachner, M.; Francke, U.: Assignment of Amog (adhesion molecule on glia) gene to mouse chromosome 11 near Zfp-3 and Asgr-1,2 and to human chromosome 17. Somat. Cell Molec. Genet. 16: 401-405, 1990.
[0035319]25907.Malo, D.; Schurr, E.; Levenson, R.; Gros, P.: Assignment of Na,K-ATPase beta-(2)-subunit gene (Atpb-2) to mouse chromosome 11. Genomics 6: 697-699, 1990.
[0035320]25908.Martin-Vasallo, P.; Dackowski, P.; Emanuel, J. R.; Levenson, R. : Identification of a putative isoform of the Na,K-ATPase beta subunit: primary structure and tissue-specific expression. J. Biol. Chem. 164: 4613-4618, 1989.
[0035321]25909.Pagliusi, S.; Antonicek, H.; Gloor, S.; Frank, R.; Moos, M.; Schachner, M.: Identification of a cDNA clone specific for the neural adhesion molecule AMOG. J. Neurosci. Res. 22: 113-119, 1989.
[0035322]25910.Katzmarzyk, P. T.; Rankinen, T.; Perusse, L.; Deriaz, O.; Tremblay, A.; Borecki, I.; Rao, D. C.; Bouchard, C.: Linkage and association of the sodium potassium-adenosine triphosphatase alpha-2 and beta-1 genes with respiratory quotient and resting metabolic rate in the Quebec Family Study. J. Clin. Endocr. Metab. 84: 2093-2097, 1999.
[0035323]25911.Rampazzo, C.; Gallinaro, L.; Milanesi, E.; Frigimelica, E.; Reichard, P.; Bianchi, V.: A deoxyribonucleotidase in mitochondria: involvement in regulation of dNTP pools and possible link to genetic disease. Proc. Nat. Acad. Sci. 97: 8239-8244, 2000.
[0035324]25912.Akaba, K.; Kimura, T.; Sasaki, A.; Tanabe, S.; Wakabayashi, T.; Hiroi, M.; Yasumura, S.; Maki, K.; Aikawa, S.; Hayasaka, K.: Neonatal hyperbilirubinemia and a common mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese. J. Hum. Genet. 44: 22-25, 1999.
[0035325]25913.Aono, S.; Yamada, Y.; Keino, H.; Sasaoka, Y.; Nakagawa, T.; Onishi, S.; Mimura, S.; Koiwai, O.; Sato, H.: A new type of defect in the gene for bilirubin uridine 5-prime-diphosphateglucuronosyltransferase in a patient with Crigler-Najjar syndrome type I. Pediat. Res. 35: 629-632, 1994.
[0035326]25914.Beutler, E.; Gelbart, T.; Demina, A.: Racial variability in the UDPglucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism? Proc. Nat. Acad. Sci. 95: 8170-8174, 1998.
[0035327]25915.Bosma, P. J.; Goldhoorn, B.; Oude Elferink, R. P. J.; Sinaasappel, M.; Oostra, B. A.; Jansen, P. L. M.: A mutation in bilirubin uridine 5-prime-diphosphate-glucuronosyltransferase isoform 1 causing Crigler-Najjar syndrome type II. Gastroenterology 105: 216-220, 1993.
[0035328]25916.Akaba, K.; Kimura, T.; Sasaki, A.; Tanabe, S.; Ikegami, T.; Hashimoto, M.; Umeda, H.; Yoshida, H.; Umetsu, K.; Chiba, H.; Yuasa, I.; Hayasaka, K.: Neonatal hyperbilirubinemia and mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene: a common missense mutation among Japanese, Koreans and Chinese. Biochem. Molec. Biol. Int. 46: 21-26, 1998.
[0035329]25917.Bosma, P. J.; Roy Chowdhury, J.; Bakker, C.; Gantla, S.; de Boer, A.; Oostra, B. A.; Lindhout, D.; Tytgat, G. N. J.; Jansen, P. L. M.; Oude Elferink, R. P. J.; Roy Chowdhury, N.: The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. New Eng. J. Med. 333: 1171-1175, 1995.
[0035330]25918.Bosma, P. J.; Roy Chowdhury, J.; Huang, T.-J.; Lahiri, P.; Oude Elferink, R. P. J.; Van Es, H. H. G.; Lederstein, M.; Whitington, P. F.; Jansen, P. L. M.; Roy Chowdhury, N.: Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I. FASEB J. 6: 2859-2863, 1992.
[0035331]25919.Thornton, M. A.; Poncz, M.; Korostishevsky, M.; Yakobson, E.; Usher, S.; Seligsohn, U.; Peretz, H.: The human platelet alpha-IIb gene is not closely linked to its integrin partner beta-3. Blood 94: 2039-2047, 1999.
[0035332]25920.von dem Borne, A. E. G.; Decary, F.: Nomenclature of platelet specific antigens. Brit. J. Haemat. 74: 239-240, 1990.
[0035333]25921.Xiong, J.-P.; Stehle, T.; Diefenbach, B.; Zhang, R.; Dunker, R.; Scott, D. L.; Joachimiak, A.; Goodman, S. L.; Arnaout, M. A.: Crystal structure of the extracellular segment of integrin alpha-V-beta-3. Science 294: 339-345, 2001.
[0035334]25922.Xiong, J.-P.; Stehle, T.; Zhang, R.; Joachimiak, A.; Frech, M.; Goodman, S. L.; Arnaout, M. A.: Crystal structure of the extracellular segment of integrin alpha-V-beta-3 in complex with an Arg-Gly-Asp ligand. Science 296: 151-155, 2002.
[0035335]25923.Disteche, C. M.; Plowman, G. D.; Gronwald, R. G. K.; Kelly, J.; Bowen-Pope, D.; Adler, D. A.; Murray, J. C.: Mapping of the amphiregulin and the platelet-growth factor receptor alpha genes to the proximal long arm of chromosome 4. (Abstract) Cytogenet. Cell Genet. 51: 990, 1989.
[0035336]25924.Gronwald, R. G. K.; Adler, D. A.; Kelly, J. D.; Disteche, C. M.; Bowen-Pope, D. F.: The human PDGF receptor alpha-subunit gene maps to chromosome 4 in close proximity to c-kit. Hum. Genet. 85: 383-385, 1990.
[0035337]25925.Hol, F. A.; Geurds, M. P. A.; Chatkupt, S.; Shugart, Y. Y.; Balling, R.; Schrander-Stumpel, C. T. R. M.; Johnson, W. G.; Hamel, B. C. J.; Mariman, E. C. M.: PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida. J. Med. Genet. 8: 655-660, 1996.
[0035338]25926.Hsieh, C.-L.; Navankasattusas, S.; Escobedo, J. A.; Williams, L. T.; Francke, U.: Chromosomal localization of the gene for AA-type platelet-derived growth factor receptor (PDGFRA) in humans and mice. Cytogenet. Cell Genet. 56: 160-163, 1991.
[0035339]25927.Ikuno, Y.; Kazlauskas, A.: TGF-beta-1-dependent contraction of fibroblasts is mediated by th PDGF-alpha receptor. Invest. Ophthal. Vis. Sci. 43: 41-46, 2002.
[0035340]25928.Joosten, P. H. L. J.; Hol, F. A.; van Beersum, S. E. C.; Peters, H.; Hamel, B. C. J.; Afink, G. B.; van Zoelen, E. J. J.; Mariman, E. C. M.: Altered regulation of platelet-derived growth factor receptor-alpha gene-transcription in vitro by spina bifida-associated mutant Pax1 proteins. Proc. Nat. Acad. Sci. 95: 14459-14463, 1998.
[0035341]25929.Sanke, T.; Bell, G. I.; Sample, C.; Rubenstein, A. H.; Steiner, D. F.: An islet amyloid peptide is derived from an 89-amino acid precursor by proteolytic processing. J. Biol. Chem. 263: 17243-17246, 1988.
[0035342]25930.Verchere, C. B.; D'Alessio, D. A.; Palmiter, R. D.; Weir, G. C.; Bonner-Weir, S.; Baskin, D. G.; Kahn, S. E.: Islet amyloid formation associated with hyperglycemia in transgenic mice with pancreatic beta cell expression of human islet amyloid polypeptide. Proc. Nat. Acad. Sci. 93: 3492-3496, 1996.
[0035343]25931.Westermark, P.; Engstrom, U.; Johnson, K. H.; Westermark, G. T.; Betsholtz, C.: Islet amyloid polypeptide: pinpointing amino acid residues linked to amyloid fibril formation. Proc. Nat. Acad. Sci. 87: 5036-5040, 1990.
[0035344]25932.Hockaday, T. D. R.: Hypogonadism and life-long anosmia. Postgrad. Med. J. 42: 572-574, 1966.
[0035345]25933.Oliveira, L. M. B.; Seminara, S. B.; Beranova, M.; Hayes, F. J.; Valkenburgh, S. B.; Schipani, E.; Costa, E. M. F.; Latronico, A. C.; Crowley, W. F., Jr.; Vallejo, M.: The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics. J. Clin. Endocr. Metab. 86: 1532-1538, 2001.
[0035346]25934.Bignon, C.; Roux-Dosseto, M.; Zeigler, M. E.; Mattei, M.-G.; Lissitzky, J.-C.; Wicha, M. S.; Martin, P.-M.: Genomic analysis of the 67-kDa laminin receptor in normal and pathological tissues: circumstantial evidence for retroposon features. Genomics 10: 481-485, 1991.
[0035347]25935.Gehlsen, K. R.; Dillner, L.; Engvall, E.; Ruoslahti, E.: The human laminin receptor is a member of the integrin family of cell adhesion receptors. Science 241: 1228-1229, 1988. Note: Erratum: Science 245:342-343, 1989.
[0035348]25936.Jackers, P.; Minoletti, F.; Belotti, D.; Clausse, N.; Sozzi, G.; Sobel, M. E.; Castronovo, V.: Isolation from a multigene family of the active human gene of the metastasis-associated multifunctional protein 37LRP/p40 at chromosome 3p21.3. Oncogene 13: 495-503, 1996.
[0035349]25937.Lafreniere, R. G.; Brown, C. J.; Rider, S.; Chelly, J.; Taillon-Miller, P.; Chinault, A. C.; Monaco, A. P.; Willard, H. F.: 2.6 Mb YAC contig of the human X inactivation center region in Xq13: physical linkage of the RPS4X, PHKA1, XIST and DXS128E genes. Hum. Molec. Genet. 2: 1105-1115, 1993.
[0035350]25938.Montuori, N.; Muller, F.; De Riu, S.; Fenzi, G.; Sobel, M. E.; Rossi, G.; Vitale, M.: Laminin receptors in differentiated thyroid tumors: restricted expression of the 67-kilodalton laminin receptor in follicular carcinoma cells. J. Clin. Endocr. Metab. 84: 2086-2092, 1999.
[0035351]25939.Satoh, K.; Narumi, K.; Sakai, T.; Abe, T.; Kikuchi, T.; Matsushima, K.; Sindoh, S.; Motomiya, M.: Cloning of 67-kDa laminin receptor cDNA and gene expression in normal and malignant cell lines of the human lung. Cancer Lett. 62: 199-203, 1992.
[0035352]25940.Tohgo, A.; Takasawa, S.; Munakata, H.; Yonekura, H.; Hayashi, N.; Okamoto, H.: Structural determination and characterization of a 40 kDa protein isolated from rat 40 S ribosomal subunit. FEBS Lett. 340: 133-138, 1994.
[0035353]25941.Yow, H. K.; Wong, J. M.; Chen, H. S.; Lee, C. G.; Davis, S.; Steele, G. D., Jr.; Chen, L. B.: Increased mRNA expression of a laminin-binding protein in human colon carcinoma: complete sequence of a full-length cDNA encoding the protein. Proc. Nat. Acad. Sci. 85: 6394-6398, 1988. Note: Erratum: Proc. Nat. Acad. Sci. 86: 7032 only, 1989.
[0035354]25942.Oklu, R.; Hesketh, R.: The latent transforming growth factor beta binding protein (LTBP) family. Biochem. J. 352: 601-610, 2000.
[0035355]25943.Lloyd, D. J.; Trembath, R. C.; Shackleton, S.: A novel interaction between lamin A and SREBP1: implications for partial lipodystrophy and other laminopathies. Hum. Molec. Genet. 11: 769-777, 2002.
[0035356]25944.Wydner, K. L.; McNeil, J. A.; Lin, F.; Worman, H. J.; Lawrence, J. B.: Chromosomal assignment of human nuclear envelope protein genes LMNA, LMNB1, and LBR by fluorescence in situ hybridization. Genomics 32: 474-478, 1996.
[0035357]25945.Garbarz, M.; Devaux, I.; Bournier, O.; Grandchamp, B.; Dhermy, D.: Protein 4.1 Lille, a novel mutation in the downstream initiation codon of protein 4.1 gene associated with heterozygous 4,1(-) hereditary elliptocytosis. Hum. Mutat. 5: 339-340, 1995.
[0035358]25946.Garbarz, M.; Dhermy, D.; Lecomte, M. C.; Feo, C.; Chaveroche, I.; Galand, C.; Bournier, O.; Bertrand, O.; Boivin, P.: A variant of erythrocyte membrane skeletal protein band 4.1 associated with hereditary elliptocytosis. Blood 64: 1006-1015, 1984.
[0035359]25947.Geerdink, R. A.; Nijenhuis, L. E.; Huizinga, J.: Hereditary elliptocytosis: linkage data in man. Ann. Hum. Genet. 30: 363-378, 1967.
[0035360]25948.Jensson, O.; Jonasson, T.; Olafsson, O.: Hereditary elliptocytosis in Iceland. Brit. J. Haemat. 13: 844-854, 1967.
[0035361]25949.Kan, Y.-W.: Personal Communication. San Francisco, Calif. 2/28/1986.
[0035362]25950.Kuroda, S.; Takeuchi, T.; Nagamori, H.: Data on the linkage between elliptocytosis and Rh blood type. Jpn. J. Hum. Genet. 5: 112-118, 1960.
[0035363]25951.Lambert, S.; Conboy, J.; Zail, S.: A molecular study of heterozygous protein 4.1 deficiency in hereditary elliptocytosis. Blood 72: 1926-1929, 1988.
[0035364]25952.Lambert, S.; Zail, S.: Partial deficiency of protein 4.1 in hereditary elliptocytosis. Am. J. Hemat. 26: 263-272, 1987.
[0035365]25953.Lipton, E. L.: Elliptocytosis with hemolytic anemia: the effects of splenectomy. Pediatrics 15: 67-82, 1955.
[0035366]25954.Lux, S. E.; Wolfe, L. C.: Inherited disorders of the red cell membrane skeleton. Pediat. Clin. N. Am. 27: 463-486, 1980.
[0035367]25955.Marchesi, S. L.; Conboy, J.; Agre, P.; Letsinger, J. T.; Marchesi, V. T.; Speicher, D. W.; Mohandas, N.: Molecular analysis of insertion/deletion mutations in protein 4.1 in elliptocytosis. I. Biochemical identification of rearrangements in the spectrin/actin binding domain and functional characterizations. J. Clin. Invest. 86: 516-523, 1990.
[0035368]25956.McGuire, M.; Agre, P.: Three distinct variants of protein 4.1 in Caucasian hereditary elliptocytosis. (Abstract) Clin. Res. 35: 428A, 1987.
[0035369]25957.McGuire, M.; Smith, B. L.; Agre, P.: Distinct variants of erythrocyte protein 4.1 inherited in linkage with elliptocytosis and Rh type in three white families. Blood 72: 287-293, 1988.
[0035370]25958.Morle, L.; Garbarz, M.; Alloisio, N.; Girot, R.; Chaveroche, I.; Boivin, P.; Delaunay, J.: The characterization of protein 4.1 Presles, a shortened variant of RBC membrane protein 4.1. Blood 65: 1511-1517, 1985.
[0035371]25959.Morle, L.; Pothier, B.; Alloisio, N.; Ducluzeau, M.-T.; Marques, S.; Olim, G.; Martins e Silva, J.; Feo, C.; Garbarz, M.; Chaveroche, I.; Boivin, P.; Delaunay, J.: Red cell membrane alteration involving protein 4.1 and protein 3 in a case of recessively inherited haemolytic anemia. Europ. J. Haemat. 38: 447-455, 1987.
[0035372]25960.Morton, N. E.: The detection and estimation of linkage between the genes for elliptocytosis and the Rh blood type. Am. J. Hum. Genet. 8: 80-96, 1956.
[0035373]25961.Nielsen, J. A.; Strunk, K. W.: Homozygous hereditary elliptocytosis as the cause of haemolytic anemia in infancy. Scand. J. Haemat. 5: 486-496, 1968.
[0035374]25962.Parra, M.; Gascard, P.; Walensky, L. D.; Snyder, S. H.; Mohandas, N.; Conboy, J. G.: Cloning and characterization of 4.1G (EPB41L2), a new member of the skeletal protein 4.1 (EPB41) gene family. Genomics 49: 298-306, 1998.
[0035375]25963.Peters, J. C.; Rowland, M.; Israels, L. G.; Zipursky, A.: Erythrocyte sodium transport in hereditary elliptocytosis. Canad. J. Physiol. Pharm. 44: 817-827, 1966.
[0035376]25964.Roberts, J. A. F.: Genetic linkage in man, with particular reference to the usefulness of very small bodies of data. Quart. J. Med. 14: 27-33, 1945.
[0035377]25965.Shi, Z.-T.; Afzal, V.; Coller, B.; Patel, D.; Chasis, J. A.; Parra, M.; Lee, G.; Paszty, C.; Stevens, M.; Walensky, L.; Peters, L. L.; Mohandas, N.; Rubin, E.; Conboy, J. G.: Protein 4.1R-deficient mice are viable but have erythroid membrane skeleton abnormalities. J. Clin. Invest. 103: 331-340, 1999.
[0035378]25966.Takakuwa, Y.; Tchernia, G.; Rossi, M.; Benabadji, M.; Mohandas, N.: Restoration of normal membrane stability to unstable protein 4.1-deficient erythrocyte membranes by incorporation of purified protein 4.1. J. Clin. Invest. 78: 80-85, 1986.
[0035379]25967.Tang, C.-J. C.; Tang, T. K.: Rapid localization of membrane skeletal protein 4.1 (EL1) to human chromosome 1p33-p34.2 by nonradioactive in situ hybridization. Cytogenet. Cell Genet. 57: 119, 1991.
[0035380]25968.Tang, T. K.; Leto, T. L.; Correas, I.; Alonso, M. A.; Marchesi, V. T.; Benz, E. J., Jr.: Selective expression of an erythroid-specific isoform of protein 4.1. Proc. Nat. Acad. Sci. 85: 3713-3717, 1988.
[0035381]25969.Tchernia, G.; Mohandas, N.; Shohet, S. B.: Deficiency of skeletal membrane protein band 4.1 in homozygous hereditary elliptocytosis: implications for erythrocyte membrane stability. J. Clin. Invest. 68: 454-460, 1981.
[0035382]25970.Tomaselli, M. B.; John, K. M.; Lux, S. E.: Elliptical erythrocyte membrane skeletons and heat-sensitive spectrin in hereditary elliptocytosis. Proc. Nat. Acad. Sci. 78: 1911-1915, 1981.
[0035383]25971.Brands, J. H. G. M.; Maassen, J. A.; Van Hemert, F. J.; Amons, R.; Moller, W.: The primary structure of the alpha subunit of human elongation factor 1: structural aspects of guaninenucleotide-binding sites. Europ. J. Biochem. 155: 167-171, 1986.
[0035384]25972.Ditzel, H. J.; Masaki, Y.; Nielsen, H.; Farnaes, L.; Burton, D. R.: Cloning and expression of a novel human antibody--antigen pair associated with Felty's syndrome. Proc. Nat. Acad. Sci. 97: 9234-9239, 2000.
[0035385]25973.Lund, A.; Knudsen, S. M.; Vissing, H.; Clark, B.; Tommerup, N. : Assignment of human elongation factor 1-alpha genes: EEF1A maps to chromosome 6q14 and EEF1A2 to 20q13.3. Genomics 36: 359-361, 1996.
[0035386]25974.Opdenakker, G.; Cabeza-Arvelaiz, Y.; Fiten, P.; Dijkmans, R.; Van Damme, J.; Volckaert, G.; Billiau, A.; Van Elsen, A.; Van der Schueren, B.; Van den Berghe, H.; Cassiman, J.-J.: Human elongation factor 1-alpha: a polymorphic and conserved multigene family with multiple chromosomal localizations. Hum. Genet. 75: 339-344, 1987.
[0035387]25975.Cohen, A. J.; Li, F. P.; Berg, S.; Marchetto, D. J.; Tsai, S.; Jacobs, S. C.; Brown, R. S.: Hereditary renal-cell carcinoma associated with chromosomal translocation. New Eng. J. Med. 301: 592-595, 1979.
[0035388]25976.Gemmill, R. M.; West, J. D.; Boldog, F.; Tanaka, N.; Robinson, L. J.; Smith, D. I.; Li, F.; Drabkin, H. A.: The hereditary renal cell carcinoma 3;8 translocation fuses FHIT to a patched-related gene, TRC8. Proc. Nat. Acad. Sci. 95: 9572-9577, 1998.
[0035389]25977.Nakano, A.; Pulkkinen, L.; Murrell, D.; Rico, J.; Lucky, A. W.; Garzon, M.; Stevens, C. A.; Robertson, S.; Pfendner, E.; Uitto, J. : Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta-4 integrin gene (ITGB4) and genotype/phenotype correlations. Pediat. Res. 49: 618-626, 2001.
[0035390]25978.Pulkkinen, L.; Bruckner-Tuderman, L.; August, C.; Uitto, J.: Compound heterozygosity for missense mutation (L156P) and nonsense (R554X) mutations in the beta-4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia. Am. J. Path. 152: 935-941, 1998.
[0035391]25979.Pulkkinen, L.; Rouan, F.; Bruckner-Tuderman, L.; Wallerstein, R.; Garzon, M.; Brown, T.; Smith, L.; Carter, W.; Uitto, J.: Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense. Am. J. Hum. Genet. 63: 1376-1387, 1998.
[0035392]25980.Shaw, L. M.; Rabinovitz, I., Wang, H. H.-F.; Toker, A., Mercurio, A. M.: Activation of phosphoinositide 3-OH kinase by the alpha-6/beta-4 integrin promotes carcinoma invasion. Cell 91: 949-960, 1997.
[0035393]25981.Suzuki, S.; Naitoh, Y.: Amino acid sequence of a novel integrin beta-4 subunit and primary expression of the mRNA in epithelial cells. EMBO J. 9: 757-763, 1990.
[0035394]25982.Vidal, F.; Aberdam, D.; Miquel, C.; Christiano, A. M.; Pulkkinen, L.; Uitto, J.; Ortonne, J.-P.; Meneguzzi, G.: Integrin beta-4 mutations associated with junctional epidermolysis bullosa with pyloric atresia. Nature Genet. 10: 229-234, 1995.
[0035395]25983.Chany, C.; Vignal, M.; Couillin, P.; Van Cong, N.; Boue, J.; Boue, A.: Chromosomal localization of human genes governing the interferon-induced antiviral state. Proc. Nat. Acad. Sci. 72: 3129-3133, 1975.
[0035396]25984.Aplin, H. M.; Hirst, K. L.; Crosby, A. H.; Dixon, M. J.: Mapping of the human dentin matrix acidic phosphoprotein gene (DMP1) to the dentinogenesis imperfecta type II critical region at chromosome 4q21. Genomics 30: 347-349, 1995.
[0035397]25985.Fisher, L. W.; McBride, O. W.; Termine, J. D.; Young, M. F.: Human bone sialoprotein: deduced protein sequence and chromosomal localization. J. Biol. Chem. 265: 2347-2351, 1990.
[0035398]25986.Goold, R. D.; diSibio, G. L.; Xu, H.; Lang, D. B.; Dadgar, J.; Magrane, G. G.; Dugaiczyk, A.; Smith, K. A.; Cox, D. R.; Masters, S. B.; Myers, R. M.: The development of sequencetagged sites for human chromosome 4. Hum. Molec. Genet. 2: 1271-1288, 1993.
[0035399]25987.Kerr, J. M.; Fisher, L. W.; Termine, J. D.; Wang, M. G.; McBride, O. W.; Young, M. F.: The human bone sialoprotein gene (IBSP): genomic localization and characterization. Genomics 17: 408-415, 1993.
[0035400]25988.Kim, R. H.; Shapiro, H. S.; Li, J. J.; Wrana, J. L.; Sodek, J. : Characterization of the human bone sialoprotein (BSP) gene and its promoter sequence. Matrix Biol. 14: 31-40, 1994.
[0035401]25989.Young, M. F.; Ibaraki, K.; Kerr, J. M.; Lyu, M. S.; Kozak, C. A. : Murine bone sialoprotein (BSP): cDNA cloning, mRNA expression, and genetic mapping. Mammalian Genome 5: 108-111, 1994.
[0035402]25990.Ho, A. S. Y.; Liu, Y.; Khan, T. A.; Hsu, D.-H.; Bazan, J. F.; Moore, K. W.: A receptor for interleukin 10 is related to interferon receptors. Proc. Nat. Acad. Sci. 90: 11267-11271, 1993.
[0035403]25991.Liu, Y.; Wei, S. H.-Y.; Ho, A. S.-Y.; de Waal Malefyt, R.; Moore, K. W.: Expression cloning and characterization of a human Il-10 receptor. J. Immun. 152: 1821-1829, 1994.
[0035404]25992.Barker, D. F.; Hostikka, S. L.; Zhou, J.; Chow, L. T.; Oliphant, A. R.; Gerken, S. C.; Gregory, M. C.; Skolnick, M. H.; Atkin, C. L.; Tryggvason, K.: Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science 248: 1224-1227, 1990.
[0035405]25993.Draptchinskaia, N.; Gustavsson, P.; Andersson, B.; Pettersson, M.; Willig, T.-N.; Dianzani, I.; Ball, S.; Tchernia, G.; Klar, J.; Matsson, H.; Tentler, D.; Mohandas, N.; Carlsson, B.; Dahl, N.: The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. Nature Genet. 21: 169-175, 1999.
[0035406]25994.Tanzi, R. E.; St. George-Hyslop, P. H.; Gusella, J. F.: Molecular genetics of Alzheimer disease amyloid. J. Biol. Chem. 266: 20579-20582, 1991.
[0035407]25995.Thinakaran, G.; Borchelt, D. R.; Lee, M. K.; Slunt, H. H.; Spitzer, L.; Kim, G.; Ratovitsky, T.; Davenport, F.; Nordstedt, C.; Seeger, M.; Hardy, J.; Levey, A. I.; Gandy, S. E.; Jenkins, N. A.; Copeland, N. G.; Price, D. L.; Sisodia, S. S.: Endoproteolysis of presenilin 1 and accumulation of processed derivatives in vivo. Neuron 17: 181-190, 1996.
[0035408]25996.Struhl, G.; Adachi, A.: Requirements for Presenilin-dependent cleavage of Notch and other transmembrane proteins. Molec. Cell 6: 625-636, 2000.
[0035409]25997.Struhl, G.; Greenwald, I.: Presenilin is required for activity and nuclear access of Notch in Drosophila. Nature 398: 522-525, 1999.
[0035410]25998.Takahashi, Y.; Koizumi, K.; Takagi, A.; Kitajima, S.; Inoue, T.; Koseki, H.; Saga, Y.: Mesp2 initiates somite segmentation through the Notch signalling pathway. Nature Genet. 25: 390-396, 2000.
[0035411]25999.Takashima, A.; Sato, M.; Mercken, M.; Tanaka, S.; Kondo, S.; Honda, T.; Sato, K.; Murayama, M.; Noguchi, K.; Nakazato, Y.; Takahashi, H.: Localization of Alzheimer-associated presenilin 1 in transfected COS-7 cells. Biochem. Biophys. Res. Commun. 227: 423-426, 1996.
[0035412]26000.Trower, M. K.; Orton, S. M.; Purvis, I. J.; Sanseau, P.; Riley, J.; Christodoulou, C.; Burt, D.; See, C. G.; Elgar, G.; Sherrington, R.; Rogaev, E. I.; St. George-Hyslop, P.; Brenner, S.; Dykes, C. W. : Conservation of synteny between the genome of the pufferfish (Fugu rubripes) and the region on human chromosome 14 (14q24.3) associated with familial Alzheimer disease (AD3 locus). Proc. Nat. Acad. Sci. 93: 1366-1369, 1996.
[0035413]26001.Tysoe, C.; Whittaker, J.; Xuereb, J.; Cairns, N. J.; Cruts, M.; Van Broeckhoven, C.; Wilcock, G.; Rubinsztein, D. C.: A presenilin-1 truncating mutation is present in two cases with autopsyconfirmed early-onset Alzheimer disease. Am. J. Hum. Genet. 62: 70-76, 1998.
[0035414]26002.Van Broeckhoven, C.; Backhovens, H.; Cruts, M.; De Winter, G.; Bruyland, M.; Cras, P.; Martin, J.-J.: Mapping of a gene predisposing to early-onset Alzheimer's disease to chromosome 14q24.3. Nature Genet. 2: 335-339, 1992.
[0035415]26003.Verkkoniemi, A.; Somer, M.; Rinne, J. O.; Myllykangas, L.; Crook, R.; Hardy, J.; Viitanen, M.; Kalimo, H.; Haltia, M.: Variant Alzheimer's disease with spastic paraparesis: clinical characterization. Neurology 54: 1103-1109, 2000.
[0035416]26004.Wasco, W.; Pettingell, W. P.; Jondro, P. D.; Schmidt, S. D.; Gurubhagaratula, S.; Rodes, L.; DiBlasi, T.; Romano, D. M.; Guenette, S. Y.; Kovacs, D. M.; Growdon, J. H.; Tanzi, R. E.: Familial Alzheimer's chromosome 14 mutations. (Letter) Nature Med. 1: 848, 1995.
[0035417]26005.Wilson, C. A.; Doms, R. W.; Zheng, H.; Lee, V. M.-Y.: Presenilins are not required for A-beta-42 production in the early secretory pathway. Nature Neurosci. 5: 849-855, 2002.
[0035418]26006.Wittenburg, N.; Eimer, S.; Lakowski, B.; Rohrig, S.; Rudolph, C.; Baumeister, R.: Presenilin is required for proper morphology and function of neurons in C. elegans. Nature 406: 306-309, 2000.
[0035419]26007.Wolfe, M. S.; Xia, W.; Ostaszewski, B. L.; Diehl, T. S.; Kimberly, W. T.; Selkoe, D. J.: Two transmembrane aspartates in presenilin-1 required for presenilin endoproteolysis and gammasecretase activity. Nature 398: 513-517, 1999.
[0035420]26008.Xia, X.; Qian, S.; Soriano, S.; Wu, Y.; Fletcher, A. M.; Wang, X.-J.; Koo, E. H.; Wu, X.; Zheng, H.: Loss of presenilin 1 is associated with enhanced beta-catenin signaling and skin tumorigenesis. Proc. Nat. Acad. Sci. 98: 10863-10868, 2001.
[0035421]26009.Ye, Y.; Lukinova, N.; Fortini, M. E.: Neurogenic phenotypes and altered Notch processing in Drosophila presenilin mutants. Nature 398: 525-529, 1999.
[0035422]26010.Yu, H.; Saura, C. A.; Choi, S.-Y.; Sun, L. D.; Yang, X.; Handler, M.; Kawarabayashi, T.; Younkin, L.; Fedeles, B.; Wilson, M. A.; Younkin, S.; Kandel, E. R.; Kirkwood, A.; Shen, J.: APP processing and synaptic plasticity in presenilin-1 conditional knockout mice. Neuron 31: 713-726, 2001.
[0035423]26011.Zhang, Z.; Hartmann, H.; Minh Do, V.; Abramowski, D.; Sturchler-Pierrat, C.; Staufenbiel, M.; Sommer, B.; van de Weterling, M.; Clevers, H.; Saftig, P.; De Strooper, B.; He, X.; Yanker, B. A.: Destabilization of beta-catenin by mutations in presenilin-1 potentiates neuronal apoptosis. Nature 395: 698-702, 1998.
[0035424]26012.Karrman, C.; Backman, B.; Dixon, M.; Holmgren, G.; Forsman, K. : Mapping of the locus for autosomal dominant amelogenesis imperfecta (AIH2) to a 4-Mb YAC contig on chromosome 4q11-q21. Genomics 39: 164-170, 1997.
[0035425]26013.Rajpar, M. H.; Harley, K.; Laing, C.; Davies, R. M.; Dixon, M. J.: Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta. Hum. Molec. Genet. 10: 1673-1677, 2001.
[0035426]26014.Bleyl, S.; Nelson, L.; Odelberg, S. J.; Ruttenberg, H. D.; Otterud, B.; Leppert, M.; Ward, K.: A gene for familial total anomalous pulmonary venous return maps to chromosome 4p13-q12. Am. J. Hum. Genet. 56: 408-415, 1995.
[0035427]26015.Blixt, A.; Mahlapuu, M.; Aitola, M.; Pelto-Huikko, M.; Enerback, S.; Carlsson, P.: A forkhead gene, FoxE3, is essential for lens epithelial proliferation and closure of the lens vesicle. Genes Dev. 14: 245-254, 2000.
[0035428]26016.Semina, E. V.; Brownell, I.; Mintz-Hittner, H. A.; Murray, J. C.; Jamrich, M.: Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts. Hum. Molec. Genet. 10: 231-236, 2001.
[0035429]26017.Siegelmann-Danieli, N.; Buetow, K. H.: Constitutional genetic variation at the human aromatase gene (Cyp19) and breast cancer risk. Brit. J. Cancer 79: 456-463, 1999.
[0035430]26018.Simpson, E. R.; Michael, M. D.; Agarwal, V. R.; Hinshelwood, M. M.; Bulun, S. E.; Zhao, Y.: Expression of the CYP19 (aromatase) gene: an unusual case of alternative promoter usage. FASEB J. 11: 29-36, 1997.
[0035431]26019.Sparkes, R. S.; Mohandas, T.; Chen, S.; Besman, M. J.; Zollman, S.; Shively, J. E.: Assignment of the aromatase gene to human chromosome 15q21. (Abstract) Cytogenet. Cell Genet. 46: 696-697, 1987.
[0035432]26020.Toda, K.; Merashima, M.; Kawamoto, T.; Sumimoto, H.; Yokoyama, Y.; Kuribayashi, I.; Mitsuuchi, Y.; Maeda, T.; Yamamoto, Y.; Sagara, Y.; Ikeda, H.; Shizuta, Y.: Structural and functional characterization of human aromatase P-450 gene. Europ. J. Biochem. 193: 559-565, 1990.
[0035433]26021.Wang, Z. J.; Jeffs, B.; Ito, M.; Achermann, J. C.; Yu, R. N.; Hales, D. B.; Jameson, J. L.: Aromatase (Cyp19) expression is up-regulated by targeted disruption of Dax1. Proc. Nat. Acad. Sci. 98: 7988-7993, 2001.
[0035434]26022.Whitlock, J. P., Jr.: The regulation of cytochrome P-450 gene expression. Annu. Rev. Pharm. Toxicol. 26: 333-369, 1986.
[0035435]26023.Zhou, D.; Pompon, D.; Chen, S.: Structure-function studies of human aromatase by site-directed mutagenesis: kinetic properties of mutants pro308-to-phe, tyr361-to-phe, tyr361-to-leu, and phe406-to-arg. Proc. Nat. Acad. Sci. 88: 410-414, 1991.
[0035436]26024.Luttrell, L. M.; Ferguson, S. S. G.; Daaka, Y.; Miller, W. E.; Maudsley, S.; Della Rocca, G. J.; Lin, F.-T.; Kawakatsu, H.; Owada, K.; Luttrell, D. K.; Caron, M. G.; Lefkowitz, R. J.: Betaarrestin-dependent formation of beta-2 adrenergic receptor-Src protein kinase complexes. Science 283: 655-661, 1999.
[0035437]26025.McDonald, P. H.; Chow, C.-W.; Miller, W. E.; Laporte, S. A.; Field, M. E.; Lin, F.-T.; Davis, R. J.; Lefkowitz, R. J.: Beta-arrestin 2: a receptor-regulated MAPK scaffold for the activation of JNK3. Science 290: 1574-1577, 2000.
[0035438]26026.Ferns, G. A. A.; Stocks, J.; Ritchie, C.; Galton, D. J.: Genetic polymorphisms of apolipoprotein C-III and insulin in survivors of myocardial infarction. Lancet II: 300-303, 1985.
[0035439]26027.Holt, M.; Hogan, P. F.; Nurse, G. T.: The ovalocytosis polymorphism on the western border of Papua New Guinea. Hum. Biol. 53: 23-34, 1981.
[0035440]26028.Hsu, L.; Morrison, M.: A new variant of the anion transport protein in human erythrocytes. Biochemistry 24: 3086-3090, 1985.
[0035441]26029.Ideguchi, H.; Okubo, K.; Ishikawa, A.; Futata, Y.; Hamasaki, N. : Band 3-Memphis is associated with a lower transport rate of phosphoenolpyruvate. Brit. J. Haemat. 82: 122-125, 1992.
[0035442]26030.Iwase, S.; Ideguchi, H.; Takao, M.; Horiguchi-Yamada, J.; Iwasaki, M.; Takahara, S.; Sekikawa, T.; Mochizuki, S.; Yamada, H.: Band 3 Tokyo: thr837-ala837 substitution in erythrocyte band 3 protein associated with spherocytic hemolysis. Acta Haemat. 100: 200-203, 1998.
[0035443]26031.Jarolim, P.; Palek, J.; Rubin, H. L.; Prchal, J. T.; Korsgren, C.; Cohen, C. M.: Band 3 Tuscaloosa: pro327-to-arg327 substitution in the cytoplasmic domain of erythrocyte band 3 protein associated with spherocytic hemolytic anemia and partial deficiency of protein 4.2. (Abstract) Blood 78 (suppl.): 252a, 1991.
[0035444]26032.Jarolim, P.; Rubin, H. L.; Brabec, V.; Chrobak, L.; Zolotarev, A. S.; Alper, S. L.; Brugnara, C.; Wichterle, H.; Palek, J.: Mutations of conserved arginines in the membrane domain of erythroid band 3 lead to a decrease in membrane-associated band 3 and to the phenotype of hereditary spherocytosis. Blood 85: 634-640, 1995.
[0035445]26033.Jarolim, P.; Rubin, H. L.; Liu, S.-C.; Cho, M. R.; Brabec, V.; Derick, L. H.; Yi, S. J.; Saad, S. T. O.; Alper, S.; Brugnara, C.; Golan, D. E.; Palek, J.: Duplication of 10 nucleotides in the erythroid band 3 (AE1) gene in a kindred with hereditary spherocytosis and band 3 protein deficiency (band 3-Prague). J. Clin. Invest. 93: 121-130, 1994.
[0035446]26034.Inaba, M.; Yawata, A.; Koshino, I.; Sato, K.; Takeuchi, M.; Takakuwa, Y.; Manno, S.; Yawata, Y.; Kanzaki, A.; Sakai, J.; Ban, A.; Ono, K.; Maede, Y.: Defective anion transport and marked spherocytosis with membrane instability caused by hereditary total deficiency of red cell band 3 in cattle due to a nonsense mutation. J. Clin. Invest. 97: 1804-1817, 1996.
[0035447]26035.Inoue, T.; Kanzaki, A.; Kaku, M.; Yawata, A.; Takezono, M.; Okamoto, N.; Wada, H.; Sugihara, T.; Yamada, O.; Katayama, Y.; Nagata, N.; Yawata, Y.: Homozygous missense mutation (band 3 Fukuoka: G130R): a mild form of hereditary spherocytosis with near-normal band 3 content and minimal changes of membrane ultrastructure despite moderate protein 4.2 deficiency. Brit. J. Haemat. 102: 932-939, 1998.
[0035448]26036.Jarolim, P.; Rubin, H. L.; Zakova, D.; Storry, J.; Reid, M. E. : Characterization of seven low incidence blood group antigens carried by erythrocyte band 3 protein. Blood 92: 4836-4843, 1998.
[0035449]26037.Jarolim, P.; Rubin, H. L.; Zhai, S.; Sahr, K. E.; Liu, S.-C.; Mueller, T. J.; Palek, J.: Band 3 Memphis: a widespread polymorphism with abnormal electrophoretic mobility of erythrocyte band 3 protein caused by substitution AAG-to-GAG (lys-to-glu) in codon 56. Blood 80: 1592-1598, 1992.
[0035450]26038.Jay, D. G.: Role of band 3 in homeostasis and cell shape. Cell 86: 853-854, 1996.
[0035451]26039.Jenkins, P. B.; Abou-Alfa, G. K.; Dhermy, D.; Bursaux, E.; Feo, C.; Scarpa, A. L.; Lux, S. E.; Garbarz, M.; Forget, B. G.; Gallagher, P. G.: A nonsense mutation in the erythrocyte band 3 gene associated with decreased mRNA accumulation in a kindred with dominant hereditary spherocytosis. J. Clin. Invest. 97: 373-380, 1996.
[0035452]26040.Jones, G. L.; Edmundson, H. M.; Wesche, D.; Saul, A.: Human erythrocyte band-3 has an altered N terminus in malaria-resistant Melanesian ovalocytosis. Biochim. Biophys. Acta 1096: 33-40, 1990.
[0035453]26041.Kay, M. M. B.: Band 3 in aging and neurological disease. Ann. N.Y. Acad. Sci. 621: 179-204, 1991.
[0035454]26042.Kay, M. M. B.; Bosman, G. J. C. G. M.; Lawrence, C.: Functional topography of band 3: specific structural alteration linked to functional aberrations in human erythrocytes. Proc. Nat. Acad. Sci. 85: 492-496, 1988.
[0035455]26043.Kay, M. M. B.; Flowers, N.; Goodman, J.; Bosman, G.: Alteration in membrane protein band 3 associated with accelerated erythrocyte aging. Proc. Nat. Acad. Sci. 86: 5834-5838, 1989.
[0035456]26044.Kay, M. M. B.; Lawrence, C.; Bosman, G. J. C. G. M.: Molecular anatomy of an anemia. (Abstract) Clin. Res. 35: 599A, 1987.
[0035457]26045.Kay, M. M. B.; Marchalonis, J. J.; Hughes, J.; Watanabe, K.; Schluter, S. F.: Definition of a physiologic aging autoantigen by using synthetic peptides of membrane protein band 3: localization of the active antigenic sites. Proc. Nat. Acad. Sci. 87: 5734-5738, 1990.
[0035458]26046.Kidson, C.; Lamont, G.; Saul, A.; Nurse, G. T.: Ovalocytic erythrocytes from Melanesians are resistant to invasion by malaria parasites in culture. Proc. Nat. Acad. Sci. 78: 5829-5832, 1981.
[0035459]26047.Langdon, R. G.; Holman, V. P.: Immunological evidence that band 3 is the major glucose transporter of the human erythrocyte membrane. Biochim. Biophys. Acta 945: 23-32, 1988.
[0035460]26048.Lie-Injo, L. E.: Hereditary ovalocytosis and haemoglobin E-ovalocytosis in Malayan aborigines. Nature 208: 1329, 1965.
[0035461]26049.Lie-Injo, L. E.; Fix, A.; Bolton, J. M.; Gilman, R. H.: Haemoglobin E-hereditary elliptocytosis in Malayan aborigines. Acta Haemat. 47: 210-216, 1972.
[0035462]26050.Liu, S.-C.; Jarolim, P.; Rubin, H. L.; Palek, J.; Amato, D.; Hassan, K.; Zaik, M.; Sapak, P.: The homozygous state for the band 3 protein mutation in Southeast Asian ovalocytosis may be lethal. (Letter) Blood 84: 3590-3591, 1994.
[0035463]26051.Liu, S.-C.; Zhai, S.; Palek, J.; Golan, D. E.; Amato, D.; Hassan, K.; Nurse, G. T.; Babona, D.; Coetzer, T.; Jarolim, P.; Zaik, M.; Borwein, S.: Molecular defect of the band 3 protein in Southeast Asian ovalocytosis. New Eng. J. Med. 323: 1530-1538, 1990.
[0035464]26052.Lux, S.; Bedrosian, C.; Shalev, O.; Morris, M.; Chasis, J.; Davies, K.; Savvides, P.; Telen, M.: Deficiency of band 3 in dominant hereditary spherocytosis with normal spectrin content. (Abstract) Clin. Res. 38: 300A, 1990.
[0035465]26053.Lux, S. E.; John, K. M.; Kopito, R. R.; Lodish, H. F.: Cloning and characterization of band 3, the human erythrocyte anion-exchange protein (AE1). Proc. Nat. Acad. Sci. 86: 9089-9093, 1989.
[0035466]26054.Maillet, P.; Vallier, A.; Reinhart, W. H.; Wyss, E. J.; Ott, P.; Texier, P.; Baklouti, F.; Tanner, M. J. A.; Delaunay, J.; Alloisio, N.: Band 3 Chur: a variant associated with band 3-deficient hereditary spherocytosis and substitution in a highly conserved position of transmembrane segment 11. Brit. J. Haemat. 91: 804-810, 1995.
[0035467]26055.Carrington, M.; Kissner, T.; Gerrard, B.; Ivanov, S.; O'Brien, S. J.; Dean, M.: Novel alleles of the chemokine-receptor gene CCR5. Am. J. Hum. Genet. 61: 1261-1267, 1997.
[0035468]26056.Chaganti, R. S. K.: Personal Communication. New York, N. Y. 10/22/1993.
[0035469]26057.Chaudhuri, A.; Polyakova, J.; Zbrzezna, V .; Pogo, A. O.: The coding sequence of Duffy blood group gene in humans and simians: restriction fragment length polymorphism, antibody and malarial parasite specificities, and expression in nonerythroid tissues in Duffy-negative individuals. Blood 85: 615-621, 1995.
[0035470]26058.Chaudhuri, A.; Polyakova, J.; Zbrzezna, V.; Williams, K.; Gulati, S.; Pogo, A. O.: Cloning of glycoprotein D cDNA, which encodes the major subunit of the Duffy blood group system and the receptor for the Plasmodium vivax malaria parasite. Proc. Nat. Acad. Sci. 90: 10793-10797, 1993.
[0035471]26059.Cook, P. J. L.; Page, B. M.; Johnston, A. W.; Stanford, W. K.; Gavin, J.: Four further families informative for 1q and the Duffy blood group. Cytogenet. Cell Genet. 22: 378-380, 1978.
[0035472]26060.Cook, P. J. L.; Robson, E. B.; Buckton, K. E.; Jacobs, P. A.; Polani, P. E.: Segregation of genetic markers in families with chromosome polymorphisms and structural rearrangements involving chromosome no. 1. Ann. Hum. Genet. 37: 261-274, 1974.
[0035473]26061.Crawford, M. N.; Punnett, H. H.; Carpenter, G. G.: Deletion of the long arm of chromosome 16 and an unexpected Duffy blood group phenotype reveal a possible autosomal linkage. Nature 215: 1075-1076, 1967.
[0035474]26062.Gelpi, A. P.; King, M. C.: Association of Duffy blood groups with the sickle cell trait. Hum. Genet. 32: 65-68, 1976.
[0035475]26063.Hadley, T. J.; David, P. H.; McGinniss, M. H.; Miller, L. H.: Identification of an erythrocyte component carrying the Duffy blood group Fy-a antigen. Science 223: 597-599, 1984.
[0035476]26064.Hadley, T. J.; Peiper, S. C.: From malaria to chemokine receptor: the emerging physiologic role of the Duffy blood group antigen. Blood 89: 3077-3091, 1997.
[0035477]26065.Hamblin, M. T.; Di Rienzo, A.: Detection of the signature of natural selection in humans: evidence from the Duffy blood group locus. Am. J. Hum. Genet. 66: 1669-1679, 2000.
[0035478]26066.Hamblin, M. T.; Thompson, E. E.; Di Rienzo, A.: Complex signatures of natural selection at the Duffy blood group locus. Am. J. Hum. Genet. 70: 369-383, 2002.
[0035479]26067.Hessner, M. J.; Pircon, R. A.; Johnson, S. T.; Luhm, R. A.: Prenatal genotyping of the Duffy blood group system by allele-specific polymerase chain reaction. Prenatal Diag. 19: 41-45, 1999.
[0035480]26068.Horuk, R.; Chitnis, C. E.; Darbonne, W. C.; Colby, T. J.; Rybicki, A.; Hadley, T. J.; Miller, L. H.: A receptor for the malarial parasite Plasmodium vivax: the erythrocyte chemokine receptor. Science 261: 1182-1184, 1993.
[0035481]26069.Howard, P. N.; Stoddard, G. R.; Goddard, M. W.; Seely, J. R.: Giemsa banding of chromosome 1qh+ and linkage analysis. J. Med. Genet. 12: 44-48, 1975.
[0035482]26070.Iwamoto, S.; Li, J.; Sugimoto, N.; Okuda, H.; Kajii, E.: Characterization of the Duffy gene promoter: evidence for tissue-specific abolishment of expression in Fy(a-b-) of black individuals. Biochem. Biophys. Res. Commun. 222: 852-859, 1996.
[0035483]26071.Lautenberger, J. A.; Stephens, J. C.; O'Brien, S. J.; Smith, M. W.: Significant admixture linkage disequilibrium across 30 cM around the FY locus in African Americans. Am. J. Hum. Genet. 66: 969-978, 2000.
[0035484]26072.Lee, C. S. N.; Ying, K. L.; Bowen, P.: Position of the Duffy locus on chromosome 1 in relation to breakpoints for structural rearrangements. Am. J. Hum. Genet. 26: 93-102, 1974.
[0035485]26073.Li, J.; Iwamoto, S.; Sugimoto, N.; Okuda, H.; Kajii, E.: Dinucleotide repeat in the 3-prime flanking region provides a clue to the molecular evolution of the Duffy gene. Hum. Genet. 99: 573-577, 1997.
[0035486]26074.Braun, A.; Kammerer, S.; Bohme, E.; Muller, B.; Roscher, A. A. : Identification of polymorphic sites of the human bradykinin B(2) receptor gene. Biochem. Biophys. Res. Commun. 211: 234-240, 1995.
[0035487]26075.Erdmann, J.; Hegemann, N.; Weidemann, A.; Kallisch, H.; Hummel, M.; Hetzer, R.; Fleck, E.; Regitz-Zagrosek, V.: Screening the human bradykinin B2 receptor gene in patients with cardiovascular diseases: identification of a functional mutation in the promoter and a new coding variant (T21M). Am. J. Med. Genet. 80: 521-525, 1998.
[0035488]26076.Hess, J. F.; Borkowski, J. A.; Young, G. S.; Strader, C. D.; Ransom, R. W.: Cloning and pharmacological characterization of a human bradykinin (BK-2) receptor. Biochem. Biophys. Res. Commun. 184: 260-268, 1992.
[0035489]26077.Kammerer, S.; Braun, A.; Arnold, N.; Roscher, A. A.: The human bradykinin B(2) receptor gene: full length cDNA, genomic organization and identification of the regulatory region. Biochem. Biophys. Res. Commun. 211: 226-233, 1995.
[0035490]26078.Ma, J.; Wang, D.; Ward, D. C.; Chen, L.; Dessai, T.; Chao, J.; Chao, L.: Structure and chromosomal localization of the gene (BDKRB2) encoding human bradykinin B2 receptor. Genomics 23: 362-369, 1994.
[0035491]26079.Powell, S. J.; Slynn, G.; Thomas, C.; Hopkins, B.; Briggs, I.; Graham, A.: Human bradykinin B2 receptor: nucleotide sequence analysis and assignment to chromosome 14. Genomics 15: 435-438, 1993.
[0035492]26080.Taketo, M.; Yokoyama, S.; Rochelle, J.; Kimura, S.; Higashida, H.; Taketo, M.; Seldin, M. F.: Mouse B2 bradykinin receptor gene maps to distal chromosome 12. Genomics 27: 222-223, 1995.
[0035493]26081.Lu, Q.; Sun, E. E.; Klein, R. S.; Flanagan, J. G.: Ephrin-B reverse signaling is mediated by a novel PDZ-RGS protein and selectively inhibits G protein-coupled chemoattraction. Cell 105: 69-79, 2001.
[0035494]26082.Amara, S. G.; Arriza, J. L.; Leff, S. E.; Swanson, L. W.; Evans, R. M.; Rosenfeld, M. G.: Expression in brain of a messenger RNA encoding a novel neuropeptide homologous to calcitonin gene-related peptide. Science 229: 1094-1097, 1985.
[0035495]26083.Hoppener, J. W. M.; Steenbergh, P. H.; Zandberg, J.; Geurts van Kessel, A. H. M.; Baylin, S. B.; Nelkin, B. D.; Jansz, H. S.; Lips, C. J. M.: The second human calcitonin/CGRP gene is located on chromosome 11. Hum. Genet. 70: 259-263, 1985.
[0035496]26084.Steenbergh, P. H.; Hoppener, J. W. M.; Zandberg, J.; Lips, C. J. M.; Jansz, H. S.: A second human calcitonin/CGRP gene. FEBS Lett. 183: 403-407, 1985.
[0035497]26085.Arthur, J. S. C.; Elce, J. S.; Hegadorn, C.; Williams, K.; Greer, P. A.: Disruption of the murine calpain small subunit gene, Capn4: calpain is essential for embryonic development but not for cell growth and division. Molec. Cell. Biol. 20: 4474-4481, 2000.
[0035498]26086.Ohno, S.; Emori, Y.; Suzuki, K.: Nucleotide sequence of a cDNA coding for the small subunit of human calcium-dependent protease. Nucleic Acids Res. 14: 5559 only, 1986.
[0035499]26087.Ohno, S.; Minoshima, S.; Kudoh, J.; Fukuyama, R.; Ohmi-Imajoh, S.; Suzuki, K.; Shimizu, Y.; Shimizu, N.: Four genes for the calpain family locate on four distinct human chromosomes. (Abstract) Cytogenet. Cell Genet. 51: 1054-1055, 1989.
[0035500]26088.Ohno, S.; Minoshima, S.; Kudoh, J.; Fukuyama, R.; Shimizu, Y.; Ohmi-Imajoh, S.; Shimizu, N.; Suzuki, K.: Four genes for the calpain family locate on four distinct human chromosomes. Cytogenet. Cell Genet. 53: 225-229, 1990.
[0035501]26089.Sakihama, T.; Kakidani, H.; Zenita, K.; Yumoto, N.; Kikuchi, T.; Sasaki, T.; Kannagi, R.; Nakanishi, S.; Ohmori, M.; Takio, K.; Titani, K.; Murachi, T.: A putative Ca(2+)-binding protein: structure of the light subunit of porcine calpain elucidated by molecular cloning and protein sequence analysis. Proc. Nat. Acad. Sci. 82: 6075-6079, 1985.
[0035502]26090.Berchtold, M. W.; Egli, R.; Rhyner, J. A.; Hameister, H.; Strehler, E. E.: Localization of the human bona fide calmodulin genes CALM1, CALM2, and CALM3 to chromosomes 14q24-q31, 2p21.1-p21.3, and 19q13.2-q13.3. Genomics 16: 461-465, 1993.
[0035503]26091.Chin, D.; Winkler, K. E.; Means, A. R.: Characterization of substrate phosphorylation and use of calmodulin mutants to address implications from the enzyme crystal structure of calmodulindependent protein kinase I. J. Biol. Chem. 272: 31235-31240, 1997.
[0035504]26092.Drum, C. L.; Yan, S.-Z.; Bard, J.; Shen, Y.-Q.; Lu, D.; Soelaiman, S.; Grabarek, Z.; Bohm, A.; Tang, W.-J.: Structural basis for the activation of anthrax adenylyl cyclase exotoxin by calmodulin. Nature 415: 396-402, 2002.
[0035505]26093.Koller, M.; Schnyder, B.; Strehler, E. E.: Structural organization of the human CaMIII calmodulin gene. Biochim. Biophys. Acta 1087: 180-189, 1990.
[0035506]26094.Kretsinger, R. H.; Rudnick, S. E.; Weissman, L. J.: Crystal structure of calmodulin. J. Inorganic Biochem. 28: 289-302, 1986.
[0035507]26095.McPherson, J. D.; Hickie, R. A.; Wasmuth, J. J.; Meyskens, F. L.; Perham, R. N.; Strehler, E. E.; Graham, M. T.: Chromosomal localization of multiple genes encoding calmodulin. (Abstract) Cytogenet. Cell Genet. 58: 1951 only, 1991.
[0035508]26096.Pegues, J. C.; Friedberg, F.: Multiple mRNAs encoding human calmodulin. Biochem. Biophys. Res. Commun. 172: 1145-1149, 1990.
[0035509]26097.Rhyner, J. A.; Ottiger, M.; Wicki, R.; Greenwood, T. M.; Strehler, E. E.: Structure of the human CALM1 calmodulin gene and identification of two CALM1-related pseudogenes CALM1P1 and CALM1P2. Europ. J. Biochem. 225: 71-82, 1994.
[0035510]26098.Scambler, P. J.; McPherson, M. A.; Bates, G.; Bradbury, N. A.; Dormer, R. L.; Williamson, R.: Biochemical and genetic exclusion of calmodulin as the site of the basic defect in cystic fibrosis. Hum. Genet. 76: 278-282, 1987.
[0035511]26099.Schumacher, M. A.; Rivard, A. F.; Bachinger, H. P.; Adelman, J. P.: Structure of the gating domain of a Ca(2+)-activated K+ channel complexed with Ca(2+)/calmodulin. Nature 410: 1120-1124, 2001.
[0035512]26100.Sen Gupta, B.; Detera-Wadleigh, S. D.; McBride, O. W.; Friedberg, F.: A calmodulin pseudogene on human chromosome 17. Nucleic Acids Res. 17: 2868 only, 1989.
[0035513]26101.Elbaz, A.; Vale-Santos, J.; Jurkat-Rott, K.; Lapie, P.; Ophoff, R. A.; Bady, B.; Links, T. P.; Piussan, C.; Vila, A.; Monnier, N.; Padberg, G. W.; Abe, K.; Feingold, N.; Guimaraes, J.; Wintzen, A. R.; van der Hoeven, J. H.; Saudubray, J. M.; Grunfeld, J. P.; Lenoir, G.; Nivet, H.; Echenne, B.; Frants, R. R.; Fardeau, M.; Lehmann-Horn, F.; Fontaine, B.: Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 Caucasian families. Am. J. Hum. Genet. 56: 374-380, 1995.
[0035514]26102.Gluecksohn-Waelsch, S.: Lethal genes and analysis of differentiation. Science 142: 1269-1276, 1963.
[0035515]26103.Gregg, R. G.; Couch, F.; Hogan, K.; Powers, P. A.: Assignment of the human gene for the alpha-1 subunit of the skeletal muscle DHP-sensitive Ca(2+) channel (CACNL1A3) to chromosome 1q31-q32. Genomics 15: 107-112, 1993.
[0035516]26104.Hogan, K.; Gregg, R. G.; Powers, P. A.: The structure of the gene encoding the human skeletal muscle alpha-1 subunit of the dihydropyridine-sensitive L-type calcium channel (CACNL1A3). Genomics 31: 392-394, 1996.
[0035517]26105.Iles, D. E.; Segers, B.; Weghuis, D. O.; Suijkerbuijk, R.; Mikala, G.; Schwartz, A.; Wieringa, B.: Refined localization of the alpha-1-subunit of the skeletal muscle L-type voltage-dependent calcium channel (CACNL1A3) to human chromosome 1q32 by in situ hybridization. Genomics 19: 561-563, 1994.
[0035518]26106.Jurkat-Rott, K.; Lehmann-Horn, F.; Elbaz, A.; Heine, R.; Gregg, R. G.; Hogan, K.; Powers, P. A.; Lapie, P.; Vale-Santos, J. E.; Weissenbach, J.; Fontaine, B.: A calcium channel mutation causing hypokalemic periodic paralysis. Hum. Molec. Genet. 3: 1415-1419, 1994.
[0035519]26107.Pai, A. C.: Developmental genetics of a lethal mutation, muscular dysgenesis (mdg), in the mouse. I. Genetic analysis and gross morphology. Dev. Biol. 11: 82-92, 1965.
[0035520]26108.Sillen, A.; Sorensen, T.; Kantola, I.; Friis, M. L.; Gustavson, K.-H.; Wadelius, C.: Identification of mutations in the CACNL1A3 gene in 13 families of Scandinavian origin having hypokalemic periodic paralysis and evidence of a founder effect in Danish families. Am. J. Med. Genet. 69: 102-106, 1997.
[0035521]26109.Stewart, S. L.; Hogan, K.; Rosenberg, H.; Fletcher, J. E.: Identification of the arg1086his mutation in the alpha subunit of the voltage-dependent calcium channel (CACNA1S) in a North American family with malignant hyperthermia. Clin. Genet. 59: 178-184, 2001.
[0035522]26110.Tanabe, T.; Beam, K. G.; Powell, J. A.; Numa, S.: Restoration of excitation-contraction coupling and slow calcium current in dysgenic muscle by dihydropyridine receptor complementary DNA. Nature 336: 134-139, 1988.
[0035523]26111.Tanabe, T.; Takeshima, H.; Mikami, A.; Flockerzi, V.; Takahashi, H.; Kangawa, K.; Kojima, M.; Matsuo, H.; Hirose, T.; Numa, S.: Primary structure of the receptor for calcium channel blockers from skeletal muscle. Nature 328: 313-318, 1987.
[0035524]26112.Ambartsumian, N.; Tarabykina, S.; Grigorian, M.; Tulchinsky, E.; Hulgaard, E.; Georgiev, G.; Lukanidin, E.: Characterization of two splice variants of metastasis-associated human mts1 gene. Gene 159: 125-130, 1995.
[0035525]26113.Jackson-Grusby, L. L.; Swiergiel, J.; Linzer, D. I.: A growth-related mRNA in cultured mouse cells encodes a placental calcium binding protein. Nucleic Acids Res. 15: 6677-6690, 1987.
[0035526]26114.Saris, C. J.; Kristensen, T.; D'Eustachio, P.; Hicks, L. J.; Noonan, D. J.; Hunter, T.; Tack, B. F.: cDNA sequence and tissue distribution of the mRNA for bovine and murine p11, the S100-related light chain of the protein-tyrosine kinase substrate p36 (calpactin I). J. Biol. Chem. 262: 10663-10671, 1987.
[0035527]26115.Lefort, A.; Lecocq, R.; Libert, F.; Lamy, F.; Swillens, S.; Vassart, G.; Dumont, J. E.: Cloning and sequencing of a calcium-binding protein regulated by cyclic AMP in the thyroid. EMBO J. 8: 111-116, 1989.
[0035528]26116.Loughlin, J.; Irven, C.; Sykes, B.: Exclusion of the cartilage link protein and the cartilage matrix protein genes as the mutant loci in several heritable chondrodysplasias. Hum. Genet. 94: 698-700, 1994.
[0035529]26117.Deak, F.; Piecha, D.; Bachrati, C.; Paulsson, M.; Kiss, I.: Primary structure and expression of matrilin-2, the closest relative of cartilage matrix protein within the von Willebrand factor type A-like module superfamily. J. Biol. Chem. 272: 9268-9274, 1997.
[0035530]26118.Deak, F.; Wagener, R.; Kiss, I.; Paulsson, M.: The matrilins: a novel family of oligomeric extracellular matrix proteins. Matrix Biol. 18: 55-64, 1999.
[0035531]26119.Hansson, A.-S.; Heinegard, D.; Holmdahl, R.: A new animal model for relapsing polychondritis, induced by cartilage matrix protein (matrilin-1). J. Clin. Invest. 104: 589-598, 1999.
[0035532]26120.Jenkins, R. N.; Osborne-Lawrence, S. L.; Sinclair, A. K.; Eddy, R. L., Jr.; Byers, M. G.; Shows, T. B.; Duby, A. D.: Structure and chromosomal location of the human gene encoding cartilage matrix protein. J. Biol. Chem. 265: 19624-19631, 1990.
[0035533]26121.Lang, B.; Rothenfusser, A.; Lanchbury, J. S.; Rauh, G.; Breedveld, F. C.; Urlacher, A.; Albert, E. D.; Peter, H.-H.; Melchers, I.: Susceptibility to relapsing polychondritis is associated with HLA-DR4. Arthritis Rheum. 36: 660-664, 1993.
[0035534]26122.Muratoglu, S.; Krysan, K.; Balazs, M.; Sheng, H.; Zakany, R.; Modis, L.; Kiss, I.; Deak, F.: Primary structure of human matrilin-2, chromosome location of the MATN2 gene and conservation of an AT-AC intron in matrilin genes. Cytogenet. Cell Genet. 90: 323-327, 2000.
[0035535]26123.Wagener, R.; Kobbe, B.; Paulsson, M.: Primary structure of matrilin-3, a new member of a family of extracellular matrix proteins related to cartilage matrix protein (matrilin-1) and von Willebrand factor. FEBS Lett. 413: 129-134, 1997.
[0035536]26124.Zeuner, M.; Straub, R. H.; Rauh, G.; Albert, E. D.; Scholmerich, J.; Lang, B.: Relapsing polychondritis: clinical and immunogenetic analysis of 62 patients. J. Rheum. 24: 96-101, 1997.
[0035537]26125.Boldyreff, B.; Klett, C.; Gottert, E.; Geurts van Kessel, A.; Hameister, H.; Issinger, O.-G.: Assignment of casein kinase 2 alpha sequences to two different human chromosomes. Hum. Genet. 89: 79-82, 1992.
[0035538]26126.Doray, B.; Ghosh, P.; Griffith, J.; Geuze, H. J.; Kornfeld, S. : Cooperation of GGAs and AP-1 in packaging MPRs at the trans-Golgi network. Science 297: 1700-1703, 2002.
[0035539]26127.Meisner, H.; Heller-Harrison, R.; Buxton, J.; Czech, M. P.: Molecular cloning of the human casein kinase II alpha subunit. Biochemistry 28: 4072-4076, 1989.
[0035540]26128.Wirkner, U.; Voss, H.; Lichter, P.; Ansorge, W.; Pyerin, W.: The human gene (CSNK2A1) coding for the casein kinase II subunit alpha is located on chromosome 20 and contains tandemly arranged Alu repeats. Genomics 19: 257-265, 1994.
[0035541]26129.Wirkner, U.; Voss, H.; Lichter, P.; Weitz, S.; Ansorge, W.; Pyerin, W.: Human casein kinase II subunit alpha: sequence of a processed (pseudo)gene and its localization on chromosome 11. Biochim. Biophys. Acta 1131: 220-222, 1992.
[0035542]26130.Yang-Feng, T. L.; Zheng, K.; Kopatz, I.; Naiman, T.; Canaani, D. : Mapping of the human casein kinase II catalytic subunit genes: two loci carrying the homologous sequences for the alpha subunit. Nucleic Acids Res. 19: 7125-7129, 1991.
[0035543]26131.Lozeman, F. J.; Litchfield, D. W.; Piening, C.; Takio, K.; Walsh, K. A.; Krebs, E. G.: Isolation and characterization of human cDNA clones encoding the alpha and the alpha-prime subunits of casein kinase II. Biochemistry 29: 8436-8447, 1990.
[0035544]26132.Xu, X.; Toselli, P. A.; Russell, L. D.; Seldin, D. C.: Globozoospermia in mice lacking the casein kinase II alpha-prime catalytic subunit. Nature Genet. 23: 118-121, 1999.
[0035545]26133.Wickenheisser, J. K.; Quinn, P. G.; Nelson, V. L.; Legro, R. S.; Strauss, J. F., III; McAllister, J. M.: Differential activity of the cytochrome P450 17-alpha-hydroxylase and steroidogenic acute regulatory protein gene promoters in normal and polycystic ovary syndrome theca cells. J. Clin. Endocr. Metab. 85: 2304-2311, 2000.
[0035546]26134.Geissler, E. N.; Liao, M.; Brook, J. D.; Martin, F. H.; Zsebo, K. M.; Housman, D. E.; Galli, S. J.: Stem cell factor (SCF), a novel hematopoietic growth factor and ligand for c-kit tyrosine kinase receptor, maps on human chromosome 12 between 12q14.3 and 12qter. Somat. Cell Molec. Genet. 17: 207-214, 1991.
[0035547]26135.Heissig, B.; Hattori, K.; Dias, S.; Friedrich, M.; Ferris, B.; Hackett, N. R.; Crystal, R. G.; Besmer, P.; Lyden, D.; Moore, M. A. S.; Werb, Z.; Rafii, S.: Recruitment of stem and progenitor cells from the bone marrow niche requires MMP-9 mediated release of Kit-ligand. Cell 109: 625-637, 2002.
[0035548]26136.Martin, F. H.; Suggs, S. V.; Langley, K. E.; Lu, H. S.; Ting, J.; Okino, K. H.; Morris, C. F.; McNiece, I. K.; Jacobsen, F. W.; Mendiaz, E. A.; Birkett, N. C.; Smith, K. A.; and 15 others: Primary structure and functional expression of rat and human stem cell factor DNAs. Cell 63: 203-211, 1990.
[0035549]26137.Mathew, S.; Murty, V. V. V. S.; Hunziker, W.; Chaganti, R. S. K. : Subregional mapping of 13 single-copy genes on the long arm of chromosome 12 by fluorescence in situ hybridization. Genomics 14: 775-779, 1992.
[0035550]26138.Abbott, C.; Piaggio, G.; Ammendola, R.; Solomon, E.; Povey, S.; Gounari, F.; De Simone, V.; Cortese, R.: Mapping of the gene TCF2 for the transcription factor LFB3 to human chromosome 17 by polymerase chain reaction. Genomics 8: 165-167, 1990.
[0035551]26139.Bach, I.; Mattei, M.-G.; Cereghini, S.; Yaniv, M.: Two members of an HNF1 homeoprotein family are expressed in human liver. Nucleic Acids Res. 19: 3553-3559, 1991.
[0035552]26140.Bingham, C.; Ellard, S.; Allen, L.; Bulman, M.; Shepherd, M.; Frayling, T.; Berry, P. J.; Clark, P. M.; Lindner, T.; Bell, G. I.; Ryffel, G. U.; Nicholls, A. J.; Hattersley, A. T.: Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1-beta. Kidney Int. 57: 898-907, 2000.
[0035553]26141.Horikawa, Y.; Iwasaki, N.; Hara, M.; Furuta, H.; Hinokio, Y.; Cockburn, B. N.; Lindner, T.; Yamagata, K.; Ogata, M.; Tomonaga, O.; Kuroki, H.; Kasahara, T.; Iwamoto, Y.; Bell, G. I.: Mutation in hepatocyte nuclear factor-1-beta gene (TCF2) associated with MODY. (Letter) Nature Genet. 17: 384-385, 1997.
[0035554]26142.Menzel, R.; Kaisaki, P. J.; Rjasanowski, I.; Heinke, P.; Kerner, W.; Menzel, S.: A low renal threshold for glucose in diabetic patients with a mutation in the hepatocyte nuclear factor-1-alpha (HNF-1-alpha) gene. Diabet. Med. 15: 816-820, 1998.
[0035555]26143.Nishigori, H.; Yamada, S.; Kohama, T.; Tomura, H.; Sho, K.; Horikawa, Y.; Bell, G. I.; Takeuchi, T.; Takeda, J.: Frameshift mutation, A263fsinsGG, in the hepatocyte nuclear factor-1-beta gene associated with diabetes and renal dysfunction. Diabetes 47: 1354-1355, 1998.
[0035556]26144.Wild, W.; Pogge von Strandmann, E.; Nastos, A.; Senkel, S.; Lingott-Frieg, A.; Bulman, M.; Bingham, C.; Ellard, S.; Hattersley, A. T.; Ryffel, G. U.: The mutated human gene encoding hepatocyte nuclear factor 1-beta inhibits kidney formation in developing Xenopus embryos. Proc. Nat. Acad. Sci. 97: 4695-4700, 2000.
[0035557]26145.Kingsmore, S. F.; Watson, M. L.; Seldin, M. F.: Genetic mapping of the T lymphocytespecific transcription factor 7 gene on mouse chromosome 11. Mammalian Genome 6: 378 only, 1995.
[0035558]26146.Roose, J.; Huls, G.; van Beest, M.; Moerer, P.; van der Horn, K.; Goldschmeding, R.; Logtenberg, T.; Clevers, H.: Synergy between tumor suppressor APC and the beta-catenin-Tcf4 target Tcf1. Science 285: 1923-1926, 1999.
[0035559]26147.van de Wetering, M.; Oosterwegel, M.; Holstege, F.; Dooyes, D.; Suijkerbuijk, R.; Geurts van Kessel, A.; Clevers, H.: The human T cell transcription factor-1 gene: structure, localization, and promoter characterization. J. Biol. Chem. 267: 8530-8536, 1992.
[0035560]26148.van de Wetering, M.; Suijkerbuijk, R.; Geurts van Kessel, A.; Clevers, H.: Assignment of the human T lymphocyte-specific transcription factor TCF-1 to chromosome 5, band q31.1. (Abstract) Cytogenet. Cell Genet. 58: 1906 only, 1991.
[0035561]26149.Verbeek, S.; Izon, D.; Hofhuis, F.; Robanus-Maandag, E.; te Riele, H.; van de Wetering, M.; Oosterwegel, M.; Wilson, A.; MacDonald, H. R.; Clevers, H.: An HMG-box-containing Tcell factor required for thymocyte differentiation. Nature 374: 70-74, 1995.
[0035562]26150.Aplan, P. D.; Jones, C. A.; Chervinsky, D. S.; Zhao, X.; Ellsworth, M.; Wu, C.; McGuire, E. A.; Gross, K. W.: An scl gene product lacking the transactivation domain induces bony abnormalities and cooperates with LMO1 to generate T-cell malignancies in transgenic mice. EMBO J. 16: 2408-2419, 1997.
[0035563]26151.Aplan, P. D.; Lombardi, D. P.; Ginsberg, A. M.; Cossman, J.; Bertness, V. L.; Kirsch, I. L.: Disruption of the human SCL locus by 'illegitimate' V-(D)-J recombinase activity. Science 250: 1426-1429, 1990.
[0035564]26152.Aplan, P. D.; Lombardi, D. P.; Reaman, G. H.; Sather, H. N.; Hammond, G. D.; Kirsch, I. R.: Involvement of the putative hematopoietic transcription factor SCL in T-cell acute lymphoblastic leukemia. Blood 79: 1327-1333, 1992.
[0035565]26153.Brown, L.; Cheng, J.-T.; Chen, Q.; Siciliano, M. J.; Crist, W.; Buchanan, G.; Baer, R.: Site-specific recombination of the tal-1 gene is a common occurrence in human T-cell leukemia. EMBO J. 9: 3343-3351, 1990.
[0035566]26154.Collazo-Garcia, N.; Scherer, P.; Aplan, P. D.: Cloning and characterization of a murine SIL gene. Genomics 30: 506-513, 1995.
[0035567]26155.Izraeli, S.; Lowe, L. A.; Bertness, V. L.; Good, D. J.; Dorward, D. W.; Kirsch, I. R.; Kuehn, M. R.: The SIL gene is required for mouse embryonic axial development and left-right specification. Nature 399: 691-694, 1999.
[0035568]26156.Shiratori, A.; Okumura, K.; Nogami, M.; Taguchi, H.; Onozaki, T.; Inoue, T.; Ando, T.; Shibata, T.; Izumi, M.; Miyazawa, H.; Hanaoka, F.; Murakami, Y.; Eki, T.: Assignment of the 49-kDa (PRIM1) and 58-kDa (PRIM2A and PRIM2B) subunit genes of the human DNA primase to chromosome bands 1q44 and 6p11.1-p12. Genomics 28: 350-353, 1995. Note: Erratum: Genomics 44: 251 only, 1997.
[0035569]26157.Roy, A. L.; Du, H.; Gregor, P. D.; Novina, C. D.; Martinez, E.; Roeder, R. G.: Cloning of an Inr- and E-box binding protein, TFII-I, that interacts physically and functionally with USF1. EMBO J. 16: 7091-7104, 1997.
[0035570]26158.Steingrimsson, E.; Sawadogo, M.; Gilbert, D. J.; Zervos, A. S.; Brent, R.; Blanar, M. A.; Fisher, D. E.; Copeland, N. G.; Jenkins, N. A.: Murine chromosomal location of five bHLH-Zip transcription factor genes. Genomics 28: 179-183, 1995.
[0035571]26159.Zhong, G.; Fan, P.; Ji, H.; Dong, F.; Huang, Y.: Identification of a chlamydial proteaselike activity factor responsible for the degradation of host transcription factors. J. Exp. Med. 193: 935-942, 2001.
[0035572]26160.Aasland, R.; Olsen, L. C.; Spurr, N. K.; Krokan, H. E.; Helland, D. E.: Chromosomal assignment of human uracil-DNA glycosylase to chromosome 12. Genomics 7: 139-141, 1990.
[0035573]26161.Dinner, A. R.; Blackburn, G. M.; Karplus, M.: Uracil-DNA glycolase acts by substrate autocatalysis. Nature 413: 752-755, 2001.
[0035574]26162.Haug, T.; Skorpen, F.; Kvaloy, K.; Eftedal, I.; Lund, H.; Krokan, H. E.: Human uracil-DNA glycosylase gene: sequence organization, methylation pattern, and mapping to chromosome 12q23-q24.1. Genomics 36: 408-416, 1996.
[0035575]26163.Haug, T.; Skorpen, F.; Lund, H.; Krokan, H. E.: Structure of the gene for human uracil-DNA glycosylase and analysis of the promoter function. FEBS Lett. 353: 180-184, 1994.
[0035576]26164.Meyer-Siegler, K.; Mauro, D. J.; Seal, G.; Wurzer, J.; deRiel, J. K.; Sirover, M. A.: A human nuclear uracil DNA glycosylase is the 37-kDa subunit of glyceraldehyde-3-phosphate dehydrogenase. Proc. Nat. Acad. Sci. 88: 8460-8464, 1991.
[0035577]26165.Nilsen, H.; Rosewell, I.; Robins, P.; Skjelbred, C. F.; Andersen, S.; Slupphaug, G.; Daly, G.; Krokan, H. E.; Lindahl, T.; Barnes, D. E.: Uracil-DNA glycosylase (UNG)-deficient mice reveal a primary role of the enzyme during DNA replication. Molec. Cell 5: 1059-1065, 2000.
[0035578]26166.Olsen, L. C.; Aasland, R.; Wittwer, C. U.; Krokan, H. E.; Helland, D. E.: Molecular cloning of human uracil-DNA glycosylase, a highly conserved DNA repair enzyme. EMBO J. 8: 3121-3125, 1989.
[0035579]26167.Vollberg, T. M.; Siegler, K. M.; Cool, B. L.; Sirover, M. A.: Isolation and characterization of the human uracil DNA glycosylase gene. Proc. Nat. Acad. Sci. 86: 8693-8697, 1989.
[0035580]26168.Hooper, M.; Hardy, K.; Handyside, A.; Hunter, S.; Monk, M.: HPRT-deficient (Lesch-Nyhan) mouse embryos derived from germline colonization by cultured cells. Nature 326: 292-295, 1987.
[0035581]26169.Kunicki, T. J.; Pidard, D.; Cazenave, J.-P.; Nurden, A. T.; Caen, J. P.: Inheritance of the human platelet alloantigen, Pl(A1), in type I Glanzmann's thrombasthenia. J. Clin. Invest. 67: 717-724, 1981.
[0035582]26170.Letellier, S. J.; Hunter, J. B.; Aster, R. H.: Probable genetic linkage between genes coding for platelet-specific antigens of the Pl(A) and Bak systems. Am. J. Hemat. 29: 139-143, 1988.
[0035583]26171.Newman, P. J.; Seligsohn, U.; Lyman, S.; Coller, B. S.: The molecular genetic basis of Glanzmann thrombasthenia in the Iraqi-Jewish and Arab populations in Israel. Proc. Nat. Acad. Sci. 88: 3160-3164, 1991.
[0035584]26172.Newman, P. J.; Seligsohn, U.; Lyman, S.; Poncz, M.; Coller, B. S.: The molecular genetic basis of Glanzmann thrombasthenia in the Iraqi-Jewish and Arab populations in Israel. (Abstract) Clin. Res. 38: 467A only, 1990.
[0035585]26173.Haan, E. A.; Hull, Y. J.; White, S.; Cockington, R.; Charlton, P.; Callen, D. F.: Trichorhino-phalangeal and branchio-oto syndromes in a family with an inherited rearrangement of chromosome 8q. Am. J. Med. Genet. 32: 490-494, 1989.
[0035586]26174.Momeni, P.; Glockner, G.; Schmidt, O.; von Holtum, D.; Albrecht, B.; Gillessen-Kaesbach, G.; Hennekam, R.; Meinecke, P.; Zabel, B.; Rosenthal, A.; Horsthemke, B.; Ludecke, H.-J.: Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I. Nature Genet. 24: 71-74, 2000.
[0035587]26175.Andersson, S.; Russell, D. W.: Structural and biochemical properties of cloned and expressed human and rat steroid 5-alpha-reductases. Proc. Nat. Acad. Sci. 87: 3640-3644, 1990.
[0035588]26176.Ellis, J. A.; Stebbing, M.; Harrap, S. B.: Genetic analysis of male pattern baldness and the 5-alpha-reductase genes. J. Invest. Derm. 110: 849-853, 1998.
[0035589]26177.Harris, G.; Azzolina, B.; Baginsky, W.; Cimis, G.; Rasmusson, G. H.; Tolman, R. L.; Raetz, C. R. H.; Ellsworth, K.: Identification and selective inhibition of an isozyme of steroid 5-alphareductase in human scalp. Proc. Nat. Acad. Sci. 89: 10787-10791, 1992.
[0035590]26178.Hsieh, C.-L.; Milatovich, A.; Russell, D.; Francke, U.: Chromosomal mapping of human steroid 5 alpha-reductase gene (SRD5A1) and pseudogene (SRD5AP1) in human and mouse. (Abstract) Cytogenet. Cell Genet. 58: 1897 only, 1991.
[0035591]26179.Jenkins, E. P.; Andersson, S.; Imperato-McGinley, J.; Wilson, J. D.; Russell, D. W.: Genetic and pharmacological evidence for more than one human steroid 5-alpha-reductase. J. Clin. Invest. 89: 293-300, 1992.
[0035592]26180.Jenkins, E. P.; Hsieh, C.-L.; Milatovich, A.; Normington, K.; Berman, D. M.; Francke, U.; Russell, D. W.: Characterization and chromosomal mapping of a human steroid 5-alpha-reductase gene and pseudogene and mapping of the mouse homologue. Genomics 11: 1102-1112, 1991.
[0035593]26181.Thigpen, A. E.; Silver, R. I.; Guileyardo, J. M.; Casey, M. L.; McConnell, J. D.; Russell, D. W.: Tissue distribution and ontogeny of steroid 5-alpha-reductase isozyme expression. J. Clin. Invest. 92: 903-910, 1993.
[0035594]26182.DeBose-Boyd, R. A.; Brown, M. S.; Li, W.-P.; Nohturfft, A.; Goldstein, J. L.; Espenshade, P. J.: Transport-dependent proteolysis of SREBP: relocation of Site-1 protease from Golgi to ER obviates the need for SREBP transport to Golgi. Cell 99: 703-712, 1999.
[0035595]26183.Hua, X.; Wu, J.; Goldstein, J. L.; Brown, M. S.; Hobbs, H. H.: Structure of the human gene encoding sterol regulatory element binding protein-1 (SREBF1) and localization of SREBF1 and SREBF2 to chromosomes 17p11.2 and 22q13. Genomics 25: 667-673, 1995.
[0035596]26184.Osborne, T. F.: CREating a SCAP-less liver keeps SREBPs pinned in the ER membrane and prevents increased lipid synthesis in response to low cholesterol and high insulin. Genes Dev. 15: 1873-1878, 2001.
[0035597]26185.Shimano, H.; Shimomura, I.; Hammer, R. E.; Herz, J.; Goldstein, J. L.; Brown, M. S.; Horton, J. D.: Elevated levels of SREBP-2 and cholesterol synthesis in livers of mice homozygous for a targeted disruption of the SREBP-1 gene. J. Clin. Invest. 100: 2115-2124, 1997.
[0035598]26186.Shimomura, I.; Hammer, R. E.; Richardson, J. A.; Ikemoto, S.; Bashmakov, Y.; Goldstein, J. L.; Brown, M. S.: Insulin resistance and diabetes mellitus in transgenic mice expressing nuclear SREBP-1c in adipose tissue: model for congenital generalized lipodystrophy. Genes Dev. 12: 3182-3194, 1998.
[0035599]26187.Tobe, K.; Suzuki, R.; Aoyama, M.; Yamauchi, T.; Kamon, J.; Kubota, N.; Terauchi, Y.; Matsui, J.; Akanuma, Y.; Kimura, S.; Tanaka, J.; Abe, M.; Ohsumi, J.; Nagai, R.; Kadowaki, T.: Increased expression of the sterol regulatory element-binding protein-1 gene in insulin receptor substrate-2 -/- mouse liver. J. Biol. Chem. 276: 38337-38340, 2001.
[0035600]26188.Wang, X.; Sato, R.; Brown, M. S.; Hua, X.; Goldstein, J. L.: SREBP-1, a membranebound transcription factor released by sterol-regulated proteolysis. Cell 77: 53-62, 1994.
[0035601]26189.Yokoyama, C.; Wang, X.; Briggs, M. R.; Admon, A.; Wu, J.; Hua, X.; Goldstein, J. L.; Brown, M. S.: SREBP-1, a basic-helix-loop-helix-leucine zipper protein that controls transcription of the low density lipoprotein receptor gene. Cell 75: 187-197, 1993.
[0035602]26190.Achermann, J. C.; Ito, M.; Ito, M.; Hindmarsh, P. C.; Jameson, J. L.: A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans. (Letter) Nature Genet. 22: 125-126, 1999.
[0035603]26191.Biason-Lauber, A.; Schoenle, E. J.: Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency. Am. J. Hum. Genet. 67: 1563-1568, 2000.
[0035604]26192.Bland, M. L.; Jamieson, C. A. M.; Akana, S. F.; Bornstein, S. R.; Eisenhofer, G.; Dallman, M. F.; Ingraham, H. A.: Haploinsufficiency of steroidogenic factor-1 in mice disrupts adrenal development leading to an impaired stress response. Proc. Nat. Acad. Sci. 97: 14488-14493, 2000.
[0035605]26193.Joosten, P. H. L. J.; Toepoel, M.; Mariman, E. C. M.; Van Zoelen, E. J. J.: Promoter haplotype combinations of the platelet-derived growth factor alpha-receptor gene predispose to human neural tube defects. Nature Genet. 27: 215-217, 2001.
[0035606]26194.Mackenzie, P. I.; Owens, I. S.; Burchell, B.; Bock, K. W.; Bairoch, A.; Belanger, A.; Fournel-Gigleux, S.; Green, M.; Hum, D. W.; Iyanagi, T.; Lancet, D.; Louisot, P.; Magalou, J.; Roy Chowdhury, J.; Ritter, J. K.; Schachter, H.; Tephly, T. R.; Tipton, K. E.; Nebert, D. W. : The UDP glycosyltransferase gene superfamily: recommended nomenclature update based on evolutionary divergence. Pharmacogenetics 7: 255-269, 1997.
[0035607]26195.Corydon, M. J.; Vockley, J.; Rinaldo, P.; Rhead, W. J.; Kjeldsen, M.; Winter, V.; Riggs, C.; Babovic-Vuksanovic, D.; Smeitink, J.; De Jong, J.; Levy, H.; Sewell, A. C.; Roe, C.; Matern, D.; Dasouki, M.; Gregersen, N.: Role of common gene variations in the molecular pathogenesis of shortchain acyl-CoA dehydrogenase deficiency. Pediat. Res. 49: 18-23, 2001.
[0035608]26196.Colombo, R.: Age and origin of the PRNP E200K mutation causing familial Creutzfeldt-Jacob disease in Libyan Jews. (Letter) Am. J. Hum. Genet. 67: 528-531, 2000.
[0035609]26197.Cousens, J.; Smith, P. G.; Ward, H.; Everington, D.; Knight, R. S. G.; Zeidler, M.; Stewart, G.; Smith-Bathgate, E. A. B.; Macleod, M.-A.; Mackenzie, J.; Will, R. G.: Geographical distribution of variant Creutzfeldt-Jakob disease in Great Britain, 1994-2000. Lancet 357: 1002-1007, 2001.
[0035610]26198.de Silva, R.; Ironside, J. W.; McCardle, L.; Esmonde, T.; Bell, J.; Will, R.; Windl, O.; Dempster, M.; Estibeiro, P.; Lathe, R.: Neuropathological phenotype and 'prion protein' genotype correlation in sporadic Creutzfeldt-Jakob disease. Neurosci. Lett. 179: 50-52, 1994.
[0035611]26199.Deslys, J.-P.; Jaegly, A.; d'Aignaux, J. H.; Mouthon, F.; de Villemeur, T. B.; Dormont, D.: Genotype at codon 129 and susceptibility to Creutzfeldt-Jakob disease. Lancet 351: 1251 only, 1998.
[0035612]26200.Dlouhy, S. R.; Hsiao, K.; Farlow, M. F.; Foroud, T.; Conneally, P. M.; Johnson, P.; Prusiner, S. B.; Hodes, M. E.; Ghetti, B.: Linkage of the Indiana kindred of Gerstmann-Straussler-Scheinker disease to the prion protein gene. Nature Genet. 1: 64-67, 1992.
[0035613]26201.Doh-ura, K.; Kitamoto, T.; Sakaki, Y.; Tateishi, J.: CJD discrepancy. (Letter) Nature 353: 801-802, 1991.
[0035614]26202.Doh-ura, K.; Tateishi, J.; Sasaki, H.; Kitamoto, T.; Sakaki, Y. : Pro-to-leu change at position 102 of prion protein is the most common but not the sole mutation related to Gerstmann-Straussler syndrome. Biochem. Biophys. Res. Commun. 163: 974-979, 1989.
[0035615]26203.Duchen, L. W.; Poulter, M.; Harding, A. E.: Dementia associated with a 216 base pair insertion in the prion protein gene: clinical and neuropathological features. Brain 116: 555-567, 1993.
[0035616]26204.Erginel-Unaltuna, N.; Peoc'h, K.; Komurcu, E.; Acuner, T. T.; Issever, H.; Laplanche, J.-L.: Distribution of the M129V polymorphism of the prion protein gene in a Turkish population suggests a high risk for Creutzfeldt-Jacob disease. Europ. J. Hum. Genet. 9: 965-968, 2001.
[0035617]26205.Farlow, M. R.; Yee, R. D.; Dlouhy, S. R.; Conneally, P. M.; Azzarelli, B.; Ghetti, B.: Gerstmann-Straussler-Scheinker disease. I. Extending the clinical spectrum. Neurology 39: 1446-1452, 1989.
[0035618]26206.Flechsig, E.; Shmerling, D.; Hegyi, I.; Raeber, A. J.; Fischer, M.; Cozzio, A.; von Mering, C.; Aguzzi, A.; Weissmann, C.: Prion protein devoid of the octapeptide repeat region restores susceptibility to scrapie in PrP knockout mice. Neuron 27: 399-408, 2000.
[0035619]26207.Forloni, G.; Angeretti, N.; Chiesa, R.; Monzani, E.; Salmona, M.; Bugiani, O.: Neurotoxicity of a prion protein fragment. (Letter) Nature 362: 543-546, 1993.
[0035620]26208.Gabizon, R.; Rosenmann, H.; Meiner, Z.; Kahana, I.; Kahana, E.; Shugart, Y.; Ott, J.; Prusiner, S. B.: Mutation and polymorphism of the prion protein gene in Libyan Jews with Creutzfeldt-Jakob disease (CJD). Am. J. Hum. Genet. 53: 828-835, 1993.
[0035621]26209.Gajdusek, D. C.: The transmissible amyloidoses: genetical control of spontaneous generation of infectious amyloid proteins by nucleation of configurational change in host precursors: kuru-CJD-GSS-scrapie-BSE. Europ. J. Epidemiol. 7: 567-577, 1991.
[0035622]26210.Gambetti, P.; Petersen, R.; Monari, L.; Tabaton, M.; Autilio-Gambetti, L.: Fatal familial insomnia and the widening spectrum of prion diseases. Brit. Med. Bull. 49: 980-994, 1993.
[0035623]26211.Ghetti, B.; Tagliavini, F.; Masters, C. L.; Beyreuther, K.; Giaccone, G.; Verga, L.; Farlow, M. R.; Conneally, P. M.; Dlouhy, S. R.; Azzarelli, B.; Bugiani, O.: Gerstmann-Straussler-Scheinker disease. II. Neurofibrillary tangles and plaques with PrP-amyloid coexist in an affected family. Neurology 39: 1453-1461, 1989.
[0035624]26212.Giaccone, G.; Verga, L.; Bugiani, O.; Frangione, B.; Serban, D.; Prusiner, S. B.; Farlow, M. R.; Ghetti, B.; Tagliavini, F.: Prion protein preamyloid and amyloid deposits in Gerstmann-Straussler-Scheinker disease, Indiana kindred. Proc. Nat. Acad. Sci. 89: 9349-9353, 1992.
[0035625]26213.Goldfarb, L. G.; Brown, P.; Cervenakova, L.; Gajdusek, D. C.: Molecular genetic studies of Creutzfeldt-Jakob disease. Molec. Neurobiol. 8: 89-97, 1994.
[0035626]26214.Goldfarb, L. G.; Brown, P.; Haltia, M.; Cathala, F.; McCombie, W. R.; Kovanen, J.; Cervenakova, L.; Goldin, L.; Nieto, A.; Godec, M. S.; Asher, D. M.; Gajdusek, D. C.: Creutzfeldt-Jakob disease cosegregates with the codon 178-asn PRNP mutation in families of European origin. Ann. Neurol. 31: 274-281, 1992.
[0035627]26215.Goldfarb, L. G.; Brown, P.; McCombie, W. R.; Goldgaber, D.; Swergold, G. D.; Wills, P. R.; Cervenakova, L.; Baron, H.; Gibbs, C. J., Jr.; Gajdusek, D. C.: Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene. Proc. Nat. Acad. Sci. 88: 10926-10930, 1991.
[0035628]26216.Goldfarb, L. G.; Brown, P.; Mitrova, E.; Cervenakova, L.; Goldin, L.; Korczyn, A. D.; Chapman, J.; Galvez, S.; Cartier, L.; Rubenstein, R.; Gajdusek, D. C.: Creutzfeldt-Jacob disease associated with the PRNP codon 200-lys mutation: an analysis of 45 families. Europ. J. Epidemiol. 7: 477-486, 1991.
[0035629]26217.Goldfarb, L. G.; Haltia, M.; Brown, P.; Nieto, A.; Kovanen, J.; McCombie, W. R.; Trapp, S.; Gajdusek, D. C.: New mutation in scrapie amyloid precursor gene (at codon 178) in Finnish Creutzfeldt-Jakob kindred. (Letter) Lancet 337: 425, 1991.
[0035630]26218.Goldfarb, L. G.; Mitrova, E.; Brown, P.; Toh, B. H.; Gajdusek, D. C.: Mutation in codon 200 of scrapie amyloid protein gene in two clusters of Creutzfeldt-Jakob disease in Slovakia. (Letter) Lancet 336: 514-515, 1990.
[0035631]26219.Travis, G. H.; Sutcliffe, J. G.; Bok, D.: The retinal degeneration slow (rds) gene product is a photoreceptor disc membrane-associated glycoprotein. Neuron 6: 61-70, 1991.
[0035632]26220.Morris, C.; Heisterkamp, N.; Hao, Q. L.; Testa, J. R.; Groffen, J.: The human tyrosine kinase gene (FER) maps to chromosome 5 and is deleted in myeloid leukemias with a del(5q). Cytogenet. Cell Genet. 53: 196-200, 1990.
[0035633]26221.Anderson, J.; Burns, H. D.; Enriquez-Harris, P.; Wilkie, A. O. M.; Heath, J. K.: Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand. Hum. Molec. Genet. 7: 1475-1483, 1998.
[0035634]26222.Arman, E.; Haffner-Krausz, R.; Chen, Y.; Heath, J. K.; Lonai, P. : Targeted disruption of fibroblast growth factor (FGF) receptor 2 suggests a role for FGF signaling in pregastrulation mammalian development. Proc. Nat. Acad. Sci. 95: 5082-5087, 1998.
[0035635]26223.Arman, E.; Haffner-Krausz, R.; Gorivodsky, M.; Lonai, P.: Fgfr2 is required for limb outgrowth and lung-branching morphogenesis. Proc. Nat. Acad. Sci. 96: 11895-11899, 1999.
[0035636]26224.Chitayat, D.; Chun, K.: Reply to the letter to the editor by Gripp et al.--'not Antley-Bixler syndrome'. (Letter) Am. J. Med. Genet. 83: 67-68, 1999.
[0035637]26225.Chun, K.; Siegel-Bartelt, J.; Chitayat, D.; Phillips, J.; Ray, P. N.: FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome. Am. J. Med. Genet. 77: 219-224, 1998.
[0035638]26226.Cohen, M. M., Jr.: Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis. Am. J. Med. Genet. 45: 300-307, 1993.
[0035639]26227.Cornejo-Roldan, L. R.; Roessler, E.; Muenke, M.: Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome. Hum. Genet. 104: 425-431, 1999.
[0035640]26228.den Dunnen, J. T.; Antonarakis, E.: Nomenclature for the description of human sequence variations. Hum. Genet. 109: 121-124, 2001.
[0035641]26229.Deng, C.; Bedford, M.; Li, C.; Xu, X.; Yang, X.; Dunmore, J.; Leder, P.: Fibroblast growth factor receptor-1 (FGFR-1) is essential for normal neural tube and limb development. Dev. Biol. 185: 42-54, 1997.
[0035642]26230.Dionne, C. A.; Crumley, G.; Bellot, F.; Kaplow, J. M.; Searfoss, G.; Ruta, M.; Burgess, W. H.; Jaye, M.; Schlessinger, J.: Cloning and expression of two distinct high-affinity receptors crossreacting with acidic and basic fibroblast growth factors. EMBO J. 9: 2685-2692, 1990.
[0035643]26231.Dionne, C. A.; Modi, W. S.; Crumley, G.; O'Brien, S. J.; Schlessinger, J.; Jaye, M.: BEK, a receptor for multiple members of the fibroblast growth factor (FGF) family, maps to human chromosome 10q25.3-q26. Cytogenet. Cell Genet. 60: 34-36, 1992.
[0035644]26232.Gilbert, E.; Del Gatto, F.; Champion-Arnaud, P.; Gesnel, M.-C.; Breathnach, R.: Control of BEK and K-SAM splice sites in alternative splicing of the fibroblast growth factor receptor 2 pre-mRNA. Molec. Cell. Biol. 13: 5461-5468, 1993.
[0035645]26233.Gorlin, R. J.: Patient described by Chun et al. may not present Antley-Bixler syndrome. (Letter) Am. J. Med. Genet. 83: 64 only, 1999.
[0035646]26234.Gorry, M. C.; Preston, R. A.; White, G. J.; Zhang, Y.; Singhal, V. K.; Losken, H. W.; Parker, M. G.; Nwokoro, N. A.; Post, J. C.; Ehrlich, G. D.: Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome. Hum. Molec. Genet. 4: 1387-1390, 1995.
[0035647]26235.Gripp, K. W.; Stolle, C. A.; McDonald-McGinn, D. M.; Markowitz, R. I.; Bartlett, S. P.; Katowitz, J. A.; Muenke, M.; Zackai, E. H. : Phenotype of the fibroblast growth factor receptor 2 ser351-to-cys mutation: Pfeiffer syndrome type III. Am. J. Med. Genet. 78: 356-360, 1998.
[0035648]26236.Gripp, K. W.; Zackai, E. H.; Cohen, M. M., Jr.: Not Antley-Bixler syndrome. (Letter) Am. J. Med. Genet. 83: 65-66, 1999.
[0035649]26237.Hajihosseini, M. K.; Wilson, S.; De Moerlooze, L.; Dickson, C. : A splicing switch and gain-of-function mutation in FgfR2-IIIc hemizygotes causes Apert/Pfeiffer-syndrome-like phenotypes. Proc. Nat. Acad. Sci. 98: 3855-3860, 2001.
[0035650]26238.Hollway, G. E.; Suthers, G. K.; Haan, E. A.; Thompson, E.; David, D. J.; Gecz, J.; Mulley, J. C.: Mutation detection in FGFR2 craniosynostosis syndromes. Hum. Genet. 99: 251-255, 1997.
[0035651]26239.Houssaint, E.; Blanquet, P. R.; Champion-Arnaud, P.; Gesnel, M. C.; Torriglia, A.; Courtois, Y.; Breathnach, R.: Related fibroblast growth factor receptor genes exist in the human genome. Proc. Nat. Acad. Sci. 87: 8180-8184, 1990.
[0035652]26240.Ibrahimi, O. A.; Eliseenkova, A. V.; Plotnikov, A. N.; Yu, K.; Ornitz, D. M.; Mohammadi, M.: Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome. Proc. Nat. Acad. Sci. 98: 7182-7187, 2001.
[0035653]26241.Jackson, R.: The lines of Blaschko: a review and reconsideration. Brit. J. Derm. 95: 349-360, 1976.
[0035654]26242.Johnson, D.; Wall, S. A.; Mann, S.; Wilkie, A. O. M.: A novel mutation, ala315 to ser, in FGFR2: a gene-environment interaction leading to craniosynostosis? Europ. J. Hum. Genet. 8: 571-577, 2000.
[0035655]26243.Williams, T. M.; Montoya, G.; Wu, Y.; Eddy, R. L.; Byers, M. G.; Shows, T. B.: The TCF8 gene encoding a zinc finger protein (Nil-2-a) resides on human chromosome 10p11.2. Genomics 14: 194-196, 1992.
[0035656]26244.van Nie, R.; Ivanyi, D.; Demant, P.: A new H-2-linked mutation, rds, causing retinal degeneration in the mouse. Tissue Antigens 12: 106-108, 1978.
[0035657]26245.Vine, A. K.; Schatz, H.: Adult-onset foveomacular pigment epithelial dystrophy. Am. J. Ophthal. 89: 680-691, 1980.
[0035658]26246.Weleber, R. G.; Carr, R. E.; Murphey, W. H.; Sheffield, V. C.; Stone, E. M.: Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene. Arch. Ophthal. 111: 1531-1542, 1993.
[0035659]26247.Wells, J.; Wroblewski, J.; Keen, J.; Inglehearn, C.; Jubb, C.; Eckstein, A.; Jay, M.; Arden, G.; Bhattacharya, S.; Fitzke, F.; Bird, A.: Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Nature Genet. 3: 213-218, 1993.
[0035660]26248.Wroblewski, J. J.; Wells, J. A., III; Eckstein, A.; Fitzke, F.; Jubb, C.; Keen, J.; Inglehearn, C.; Bhattacharya, S.; Arden, G. B.; Jay, M.; Bird, A. C.: Macular dystrophy associated with mutations at codon 172 in the human retinal degeneration slow gene. Ophthalmology 101: 12-22, 1994.
[0035661]26249.Eph Nomenclature Committee: Unified nomenclature for the Eph family receptors and their ligands, the ephrins. Cell 90: 403-404, 1997.
[0035662]26250.Hattori, M.; Osterfield, M.; Flanagan, J. G.: Regulated cleavage of a contact-mediated axon repellent. Science 289: 1360-1365, 2000.
[0035663]26251.Maru, Y.; Hirai, H.; Yoshida, M. C.; Takaku, F.: Evolution, expression, and chromosomal location of a novel receptor tyrosine kinase gene, eph. Molec. Cell. Biol. 8: 3770-3776, 1988.
[0035664]26252.Yoshida, M. C.; Maru, H.; Hirai, H.; Takau, F.: Chromosomal location of a novel receptor tyrosine kinase gene, EPH, on chromosome 7. (Abstract) Cytogenet. Cell Genet. 51: 1113 only, 1989.
[0035665]26253.Boyd, A. W.; Ward, L. D.; Wicks, I. P.; Simpson, R. J.; Salvaris, E.; Wilks, A.; Welch, K.; Loudovaris, M.; Rockman, S.; Busmanis, I. : Isolation and characterization of a novel receptor-type protein tyrosine kinase (hek) from a human pre-B cell line. J. Biol. Chem. 267: 3262-3267, 1992.
[0035666]26254.Fox, G. M.; Holst, P. L.; Chute, H. T.; Lindberg, R. A.; Janssen, A. M.; Basu, R.; Welcher, A. A.: cDNA cloning and tissue distribution of five human EPH-like receptor protein-tyrosine kinases. Oncogene 10: 897-905, 1995.
[0035667]26255.Wicks, I. P.; Lapsys, N. M.; Baker, E.; Campbell, L. J.; Boyd, A. W.; Sutherland, G. R.: Localization of a human receptor tyrosine kinase (ETK1) to chromosome region 3p11.2. Genomics 19: 38-41, 1994.
[0035668]26256.Wicks, I. P.; Wilkinson, D.; Salvaris, E.; Boyd, A. W.: Molecular cloning of HEK, the gene encoding a receptor tyrosine kinase expressed by human lymphoid tumor cell lines. Proc. Nat. Acad. Sci. 89: 1611-1615, 1992.
[0035669]26257.Agrawal, A.; Eastman, Q. M.; Schatz, D. G.: Transposition mediated by RAG1 and RAG2 and its implications for the evolution of the immune system. Nature 394: 744-751, 1998.
[0035670]26258.Blanquet, V.; Turleau, C.; Goossens, M.; Besmond, C.: Assignment of the human recombination activating gene 1 (RAG1) to the 14q21.3-q22.2 region. Genomics 13: 488-489, 1992.
[0035671]26259.Fulop, G. M.; Phillips, R. A.: The scid mutation in mice causes a general defect in DNA repair. Nature 347: 479-482, 1990.
[0035672]26260.Hikida, M.; Mori, M.; Takai, T.; Tomochika, K.; Hamatani, K.; Ohmori, H.: Reexpression of RAG-1 and RAG-2 genes in activated mature mouse B cells. Science 274: 2091-2093, 1996.
[0035673]26261.Hiom, K.; Melek, M.; Gellert, M.: DNA transposition by the RAG1 and RAG2 proteins: a possible source of oncogenic translocations. Cell 94: 463-470, 1998.
[0035674]26262.Huye, L. E.; Purugganan, M. M.; Jiang, M.-M.; Roth, D. B.: Mutational analysis of all conserved basic amino acids in RAG-1 reveals catalytic, step arrest, and joining-deficient mutants in the V(D)J recombinase. Molec. Cell. Biol. 22: 3460-3473, 2002.
[0035675]26263.Ichihara, Y.; Hirai, M.; Kurosawa, Y.: Sequence and chromosome assignment to 11p13-p12 of human RAG genes. Immun. Lett. 33: 277-284, 1992.
[0035676]26264.Janeway, C. A., Jr.: How the immune system works to protect the host from infection: a personal view. Proc. Nat. Acad. Sci. 98: 7461-7468, 2001.
[0035677]26265.Kim, D. R.; Dai, Y.; Mundy, C. L.; Yang, W.; Oettinger, M. A.: Mutations of acidic residues in RAG1 define the active site of the V(D)J recombinase. Genes Dev. 13: 3070-3080, 1999.
[0035678]26266.Landree, M. A.; Wibbenmeyer, J. A.; Roth, D. B.: Mutational analysis of RAG1 and RAG2 identifies three catalytic amino acids in RAG1 critical for both cleavage steps of V(D)J recombination. Genes Dev. 13: 3059-3069, 1999.
[0035679]26267.McBlane, J. F.; van Gent, D. C.; Ramsden, D. A.; Romeo, C.; Cuomo, C. A.; Gellert, M.; Oettinger, M. A.: Cleavage at a V(D)J recombination signal requires only RAG1 and RAG2 proteins and occurs in two steps. Cell 83: 387-395, 1995.
[0035680]26268.Melek, M.; Gellert, M.: RAG1/2-mediated resolution of transposition intermediates: two pathways and possible consequences. Cell 101: 625-633, 2000.
[0035681]26269.Mombaerts, P.; Iacomini, J.; Johnson, R. S.; Herrup, K.; Tonegawa, S.; Papaioannou, V. E.: RAG-1-deficient mice have no mature B and T lymphocytes. Cell 68: 869-877, 1992.
[0035682]26270.Oettinger, M. A.: Personal Communication. Boston, Mass. 1/15/1993.
[0035683]26271.Sillekens, P. T. G.; Habets, W. J.; Beijer, R. P.; van Venrooij, W. J.: cDNA cloning of the human U1 snRNA-associated A protein: extensive homology between U1 and U2 snRNP-specific proteins. EMBO J. 6: 3841-3848, 1987.
[0035684]26272.Koyama, K.; Fukushima, Y.; Inazawa, J.; Tomotsune, D.; Takahashi, N.; Nakamura, Y.: The human homologue of the murine Llglh gene (LLGL) maps within the Smith-Magenis syndrome region in 17p11.2. Cytogenet. Cell Genet. 72: 78-82, 1996.
[0035685]26273.Forsberg, E.; Hirsch, E.; Frohlich, L.; Meyer, M.; Ekblom, P.; Aszodi, A.; Werner, S.; Fassler, R.: Skin wounds and severed nerves heal normally in mice lacking tenascin-C. Proc. Nat. Acad. Sci. 93: 6594-6599, 1996.
[0035686]26274.Gulcher, J. R.; Alexakos, M. J.; Le Beau, M. M.; Lemons, R. S.; Stefansson, K.: Chromosomal localization of the human hexabrachion (tenascin) gene and evidence for recent reduplication within the gene. Genomics 6: 616-622, 1990.
[0035687]26275.Gulcher, J. R.; Nies, D. E.; Alexakos, M. J.; Ravikant, N. A.; Sturgill, M. E.; Marton, L. S.; Stefansson, K.: Structure of the human hexabrachion (tenascin) gene. Proc. Nat. Acad. Sci. 88: 9438-9442, 1991.
[0035688]26276.Mitrovic, N.; Schachner, M.: Detection of tenascin-C in the nervous system of the tenascin-C mutant mouse. J. Neurosci. Res. 42: 710-717, 1995.
[0035689]26277.Nies, D. E.; Hemesath, T. J.; Kim, J.-H.; Gulcher, J. R.; Stefansson, K.: The complete cDNA sequence of human hexabrachion (tenascin): a multidomain protein containing unique epidermal growth factor repeats. J. Biol. Chem. 266: 2818-2823, 1991.
[0035690]26278.Williams, T. M.; Moolten, D.; Burlein, J.; Romano, J.; Bhaerman, R.; Godillot, A.; Mellon, M.; Rauscher, F. J., III; Kant, J. A.: Identification of a zinc finger protein that inhibits IL-2 gene expression. Science 254: 1791-1794, 1991.
[0035691]26279.Ludecke, H.-J.; Schaper, J.; Meinecke, P.; Momeni, P.; Gross, S.; von Holtum, D.; Hirche, H.; Abramowicz, M. J.; Albrecht, B.; Apacik, C.; Christen, H.-J.; Claussen, U.; and 28 others: Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. Am. J. Hum. Genet. 68: 81-91, 2001.
[0035692]26280.Arya, R.; Lalloz, M. R. A.; Bellingham, A. J.; Layton, D. M.: Evidence for founder effect of the glu104-to-asp substitution and identification of new mutations in triosephosphate isomerase deficiency. Hum. Mutat. 10: 290-294, 1997.
[0035693]26281.Asakawa, J.; Iida, S.: Origin of human triosephosphate isomerase isozymes: further evidence for the single structural locus hypothesis with Japanese variants. Hum. Genet. 71: 22-26, 1985.
[0035694]26282.McDonald, H.; Smailus, D.; Jenkins, H.; Adams, K.; Simpson, N. E.; Goodfellow, P. J.: Identification and characterization of a gene at D10S94 in the MEN2A region. Genomics 13: 344-348, 1992.
[0035695]26283.Miwa, S.; Sato, T.; Murao, H.; Kozuru, M.; Ibayashi, H.: A new type of phosphofructokinase deficiency: hereditary nonspherocytic hemolytic anemia. Acta Haemat. Jpn. 35: 113-118, 1972.
[0035696]26284.Vora, S.; DiMauro, S.; Spear, D.; Harker, D.; Danon, M. J.: Characterization of the enzymatic defect in late-onset muscle phosphofructokinase deficiency: new subtype of glycogen storage disease type VII. J. Clin. Invest. 80: 1479-1485, 1987.
[0035697]26285.Bernardi, G.: Personal Communication. Paris, France 5/13/1992.
[0035698]26286.Boulard, M. R.; Bois, M.; Reviron, M.; Najean, Y.: Red-cell phosphofructokinase deficiency. New Eng. J. Med. 291: 978-979, 1974.
[0035699]26287.Chadefaux, B.; Rethore, M. O.; Allard, D.: Regional mapping of liver type 6-phosphofructokinase isoenzyme on chromosome 21. Hum. Genet. 68: 136-137, 1984.
[0035700]26288.Cox, D. R.; Kawashima, H.; Vora, S.; Epstein, C. J.: Regional mapping of SOD-1, PRGS, and PFK-L on human chromosome 21. (Abstract) Cytogenet. Cell Genet. 37: 441-442, 1984.
[0035701]26289.Elson, A.; Levanon, D.; Brandeis, M.; Dafni, N.; Bernstein, Y.; Danciger, E.; Groner, Y.: The structure of the human liver-type phosphofructokinase gene. Genomics 7: 47-56, 1990.
[0035702]26290.Etiemble, J.; Kahn, A.; Boivin, P.; Bernard, J. F.; Goudemand, M.: Hereditary hemolytic anemia with erythrocyte phosphofructokinase deficiency. Hum. Genet. 31: 83-91, 1976.
[0035703]26291.Etiemble, J.; Picat, C.; Simeon, J.; Blatrix, C.; Boivin, P.: Inherited erythrocyte phosphofructokinase deficiency: molecular mechanism. Hum. Genet. 55: 383-390, 1980.
[0035704]26292.Gehnrich, S. C.; Gekakis, N.; Sul, H. S.: Liver (B-type) phosphofructokinase mRNA: cloning, structure, and expression. J. Biol. Chem. 263: 11755-11759, 1988.
[0035705]26293.Kahn, A.; Etiemble, J.; Meienhofer, M. C.; Boivin, P.: Erythrocyte phosphofructokinase deficiency associated with an unstable variant of muscle phosphofructokinase. Clin. Chim. Acta 61: 415-419, 1975.
[0035706]26294.Levanon, D.; Danciger, E.; Dafni, N.; Groner, Y.: Genomic clones of the human livertype phosphofructokinase. Biochem. Biophys. Res. Commun. 141: 374-380, 1986.
[0035707]26295.Pantelakis, S. N.; Karaklis, A. G.; Alexiou, D.; Vardas, E.; Valaes, T.: Red cell enzymes in trisomy 21. Am. J. Hum. Genet. 22: 184-193, 1970.
[0035708]26296.Van Keuren, M.; Drabkin, H.; Hart, I.; Harker, D.; Patterson, D.; Vora, S.: Regional assignment of human liver-type 6-phosphofructokinase to chromosome 21q22.3 by using somatic cell hybrids and a monoclonal anti-L antibody. Hum. Genet. 74: 34-40, 1986.
[0035709]26297.Vora, S.; Davidson, M.; Seaman, C.; Miranda, A. F.; Noble, N. A.; Tanaka, K. R.; Frenkel, E. P.; DiMauro, S.: Heterogeneity of the molecular lesions in inherited phosphofructokinase deficiency. J. Clin. Invest. 72: 1995-2006, 1983.
[0035710]26298.Vora, S.; Durham, S.; de Martinville, B.; Francke, U.: Assignment of the genes for liver type phosphofructokinase (PFKL) to chromosome 21 and for muscle type (PFKM) to region p32-q32 of chromosome 1. (Abstract) Cytogenet. Cell Genet. 32: 324 only, 1982.
[0035711]26299.Vora, S.; Francke, U.: Assignment of the human gene for liver type phosphofructokinase isozyme to chromosome 21 using somatic cell hybrids. (Abstract) Pediat. Res. 15: 570 only, 1981.
[0035712]26300.Vora, S.; Francke, U.: Assignment of the human gene for liver-type 6-phosphofructokinase isozyme (PFKL) to chromosome 21 by using somatic cell hybrids and monoclonal anti-L antibody. Proc. Nat. Acad. Sci. 78: 3738-3742, 1981.
[0035713]26301.Wang, D.; Fang, H.; Cantor, C. R.; Smith, C. L.: A contiguous NotI restriction map of band q22.3 of human chromosome 21. Proc. Nat. Acad. Sci. 89: 3222-3226, 1992.
[0035714]26302.Vidal, R.; Revesz, T.; Rostagno, A.; Kim, E.; Holton, J. L.; Bek, T.; Bojsen-Moller, M.; Braendgaard, H.; Plant, G.; Ghiso, J.; Frangione, B.: A decamer duplication in the 3-prime region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred. Proc. Nat. Acad. Sci. 97: 4920-4925, 2000.
[0035715]26303.Fathallah-Shaykh, H.; Wolf, S.; Wong, E.; Posner, J. B.: Cloning of a leucine-zipper protein recognized by the sera of patients with antibody-associated paraneoplastic cerebellar degeneration. Proc. Nat. Acad. Sci. 88: 3451-3454, 1991.
[0035716]26304.Gress, T.; Baldini, A.; Rocchi, M.; Furneaux, H.; Posner, J. B.; Siniscalco, M.: In situ mapping of the gene coding for a leucine zipper DNA binding protein (CDR 2) to the region between two rare fragile sites of autosome 16 (16p12-p13.1). (Abstract) Cytogenet. Cell Genet. 58: 1999-2000, 1991.
[0035717]26305.Gress, T.; Baldini, A.; Rocchi, M.; Furneaux, H.; Posner, J. B.; Siniscalco, M.: In situ mapping of the gene coding for a leucine zipper DNA binding protein (CDR62) to 16p12-16p13.1. Genomics 13: 1340-1342, 1992.
[0035718]26306.Raimondi, E.; Rubboli, F.; Moralli, D.; Chini, B.; Fornasari, D.; Tarroni, P.; De Carli, L.; Clementi, F.: Chromosomal localization and physical linkage of the genes encoding the human alpha-3, alpha-5, and beta-4 neuronal nicotinic receptor subunits. Genomics 12: 849-850, 1992.
[0035719]26307.Anand, R.; Lindstrom, J.: Nucleotide sequence of the human nicotinic acetylcholine receptor beta-2 subunit gene. Nucleic Acids Res. 18: 4272, 1990.
[0035720]26308.De Fusco, M.; Becchetti, A.; Patrignani, A.; Annesi, G.; Gambardella, A.; Quattrone, A.; Ballabio, A.; Wanke, E.; Casari, G.: The nicotinic receptor beta-2 subunit is mutant in nocturnal frontal lobe epilepsy. Nature Genet. 26: 275-276, 2000.
[0035721]26309.Lueders, K. K.; Elliott, R. W.; Marenholz, I.; Mischke, D.; DuPree, M.; Hamer, D.: Genomic organization and mapping of the human and mouse neuronal beta-1-nicotinic acetylcholine receptor genes. Mammalian Genome 10: 900-905, 1999.
[0035722]26310.Phillips, H. A.; Favre, I.; Kirkpatrick, M.; Zuberi, S. M.; Goudie, D.; Heron, S. E.; Scheffer, I. E.; Sutherland, G. R.; Berkovic, S. F.; Bertrand, D.; Mulley, J. C.: CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. Am. J. Hum. Genet. 68: 225-231, 2001.
[0035723]26311.Picciotto, M. R.; Zoli, M.; Lena, C.; Bessis, A.; Lallemand, Y.; LeNovere, N.; Vincent, P.; Pich, E. M.; Brulet, P.; Changeux, J.-P. : Abnormal avoidance learning in mice lacking functional high-affinity nicotine receptor in the brain. Nature 374: 65-67, 1995.
[0035724]26312.Zoli, M.; Picciotto, M. R.; Ferrari, R.; Cocchi, D.; Changeux, J.-P.: Increased neurodegeneration during ageing in mice lacking high-affinity nicotine receptors. EMBO J. 18: 1235-1244, 1999.
[0035725]26313.Tarroni, P.; Rubboli, F.; Chini, B.; Zwart, R.; Oortgiesen, M.; Sher, E.; Clementi, F.: Neuronal-type nicotinic receptors in human neuroblastoma and small-cell lung carcinoma cell lines. FEBS Lett. 312: 66-70, 1992.
[0035726]26314.Bonner, T. I.; Buckley, N. J.; Young, A. C.; Brann, M. R.: Identification of a family of muscarinic acetylcholine receptor genes. Science 237: 527-532, 1987.
[0035727]26315.Eng, C. E. L.; Strom, C. M.: Analysis of three restriction fragment length polymorphisms in the human type II procollagen gene. Am. J. Hum. Genet. 37: 719-732, 1985.
[0035728]26316.Eyre, D. R.; Weis, M. A.; Moskowitz, R. W.: Cartilage expression of a type II collagen mutation in an inherited form of osteoarthritis associated with a mild chondrodysplasia. J. Clin. Invest. 87: 357-361, 1991.
[0035729]26317.Francomano, C. A.; Liberfarb, R. M.; Hirose, T.; Maumenee, I. H.; Streeten, E. A.; Meyers, D. A.; Pyeritz, R. E.: The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen. Genomics 1: 293-296, 1987.
[0035730]26318.Francomano, C. A.; Maumenee, I.; Liberfarb, R.; Pyeritz, R. E. : Cosegregation of Stickler syndrome and type II collagen gene alleles. (Abstract) Cytogenet. Cell Genet. 46: 615 only, 1987.
[0035731]26319.Garofalo, S.; Vuorio, E.; Metsaranta, M.; Rosati, R.; Toman, D.; Vaughan, J.; Lozano, G.; Mayne, R.; Ellard, J.; Horton, W.; de Crombrugghe, B.: Reduced amounts of cartilage collagen fibrils and growth plate anomalies in transgenic mice harboring a glycine-to-cysteine mutation in the mouse type II procollagen alpha-1-chain gene. Proc. Nat. Acad. Sci. 88: 9648-9652, 1991.
[0035732]26320.Gupta, S. K.; Leonard, B. C.; Damji, K. F.; Bulman, D. E.: A frame shift mutation in a tissue-specific alternatively spliced exon of collagen 2A1 in Wagner's vitreoretinal degeneration. Am. J. Ophthal. 133: 203-210, 2002.
[0035733]26321.Holderbaum, D.; Malemud, C. J.; Moskowitz, R. W.; Haqqi, T. M. : Human cartilage from late stage familial osteoarthritis transcribes type II collagen mRNA encoding a cysteine in position 519. Biochem. Biophys. Res. Commun. 192: 1169-1174, 1993.
[0035734]26322.Horton, W. A.: Personal Communication. Houston, Texas 1987.
[0035735]26323.Horton, W. A.; Machado, M. A.; Ellard, J.; Campbell, D.; Bartley, J.; Ramirez, F.; Vitale, E.; Lee, B.: Characterization of a type II collagen gene (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis. Proc. Nat. Acad. Sci. 89: 4583-4587, 1992.
[0035736]26324.Huerre-Jeanpierre, C.; Mattei, M.-G.; Weil, D.; Grzeschik, K. H.; Chu, M.-L.; Sangiorgi, F. O.; Sobel, M. E.; Ramirez, F.; Junien, C.: Further evidence for the dispersion of the human fibrillar collagen genes. Am. J. Hum. Genet. 38: 26-37, 1986.
[0035737]26325.Huerre-Jeanpierre, C.; Mattei, M. G.; Weil, D.; Grzeschik, K. H.; Sangiorgi, F. O.; Ramirez, F.; Junien, C.: The gene for human alpha-1 type II collagen (COL2A1) maps to band 12q131. (Abstract) Cytogenet. Cell Genet. 40: 657-658, 1985.
[0035738]26326.Kaitila, I.; Korokko, J.; Marttinen, E.; Ala-Kokko, L.: Phenotypic expressions of a gly154-to-arg mutation in type II collagen in two unrelated patients with spondyloepimetaphyseal dysplasia (SEMD). Am. J. Med. Genet. 63: 111-122, 1996.
[0035739]26327.Kaprio, J.; Kujala, U. M.; Peltonen, L.; Koskenvuo, M.: Genetic liability to osteoarthritis may be greater in women than in men. (Letter) Brit. Med. J. 313: 232 only, 1996.
[0035740]26328.Kelly, T. E.; Lichtenstein, J. R.; Dorst, J. P.: An unusual familial spondyloepiphyseal dysplasia: 'spondyloperipheral dysplasia.'. Birth Defects Orig. Art. Ser. XIII(3B): 149-165, 1977.
[0035741]26329.Knowlton, R. G.; Katzenstein, P.; Moskowitz, R. W.; Weaver, E. J.; Jimenez, S. A.; Pathria, M. N.; Malemud, C. J.; Prockop, D. J. : Genetic linkage of the type II procollagen gene to primary generalized osteoarthritis with chondrodysplasia. (Abstract) Cytogenet. Cell Genet. 51: 1024 only, 1989.
[0035742]26330.Knowlton, R. G.; Katzenstein, P. L.; Moskowitz, R. W.; Weaver, E. J.; Malemud, C. J.; Pathria, M. N.; Jimenez, S. A.; Prockop, D. J.: Genetic linkage of a polymorphism in the type II procollagen gene (COL2A1) to primary osteoarthritis associated with mild chondrodysplasia. New Eng. J. Med. 322: 526-530, 1990.
[0035743]26331.Korkko, J.; Cohn, D. H.; Ala-Kokko, L.; Krakow, D.; Prockop, D. J.: Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis. Am. J. Med. Genet. 92: 95-100, 2000.
[0035744]26332.Law, M. L.; Tung, L.; Morse, H. G.; Berger, R.; Jones, C.; Cheah, K. S. E.; Solomon, E.: The human type II collagen gene (COL2A1) assigned to 12q14.3. Ann. Hum. Genet. 50: 131-137, 1986.
[0035745]26333.Law, M. L.; Tung, L.; Morse, H. G.; Berger, R.; Jones, C.; Cheah, K. S. E.; Stoker, N. G.; Solomon, E.: Regional assignment of the human type II collagen gene (COL2A1) on chromosome 12. (Abstract) Cytogenet. Cell Genet. 40: 678 only, 1985.
[0035746]26334.Learmonth, I. D.; Christy, G.; Beighton, P.: Namaqualand hip dysplasia: orthopaedic implications. Clin. Orthop. 218: 142-147, 1987.
[0035747]26335.Li, S. W.; Prockop, D. J.; Helminen, H.; Fassler, R.; Lapvetelainen, T.; Kiraly, K.; Peltarri, A.; Arokoski, J.; Lui, H.; Arita, M.; Khillan, J. S.: Transgenic mice with targeted inactivation of the Col2a1 gene for collagen II develop a skeleton with membranous and periosteal bone but no endochondral bone. Genes Dev. 9: 2821-2830, 1995.
[0035748]26336.Lovell-Badge, R. H.; Bygrave, A.; Bradley, A.; Robertson, E.; Tilly, R.; Cheah, K. S. E.: Tissue-specific expression of the human type II collagen gene in mice. Proc. Nat. Acad. Sci. 84: 2803-2807, 1987.
[0035749]26337.Schwenk, W. F.; Rizza, R. A.; Mandarino, L. J.; Gerich, J. E.; Hayles, A. B.; Haymond, M. W.: Familial insulin resistance and acanthosis nigricans: presence of a postbinding defect. Diabetes 35: 33-37, 1986.
[0035750]26338.Harris, E. L.: Personal Communication. Dunedin, New Zealand 11/27/2001.
[0035751]26339.Rossaak, J. I.; van Rij, A. M.; Jones, G. T.; Harris, E. L.: Association of the 4G/5G polymorphism in the promoter region of plasminogen activator inhibitor-1 with abdominal aortic aneurysms. J. Vasc. Surg. 31: 1026-1032, 2000.
[0035752]26340.Steinberger, D.; Mulliken, J. B.; Muller, U.: Crouzon syndrome: previously unrecognized deletion, duplication, and point mutation within FGFR2 gene. Hum. Mutat. 8: 386-390, 1996.
[0035753]26341.Oettinger, M. A.; Schatz, D. G.; Gorka, C.; Baltimore, D.: RAG-1 and RAG-2, adjacent genes that synergistically activate V(D)J recombination. Science 248: 1517-1523, 1990.
[0035754]26342.Steinberger, D.; Reinhartz, T.; Unsold, R.; Muller, U.: FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation. Am. J. Med. Genet. 66: 81-86, 1996.
[0035755]26343.Steinberger, D.; Vriend, G.; Mulliken, J. B.; Muller, U.: The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor. Hum. Genet. 102: 145-150, 1998. Note: Erratum: Hum. Genet. 102: 495 only, 1998.
[0035756]26344.Tartaglia, M.; Di Rocco, C.; Lajeunie, E.; Valeri, S.; Velardi, F.; Battaglia, P. A.: Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders. Hum. Genet. 101: 47-50, 1997.
[0035757]26345.Tartaglia, M.; Valeri, S.; Velardi, F.; Di Rocco, C.; Battaglia, P. A.: Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome. Hum. Genet. 99: 602-606, 1997.
[0035758]26346.Teebi, A. S.; Kennedy, S.; Chun, K.; Ray, P. N.: Severe and mild phenotypes in Pfeiffer syndrome with splice acceptor mutations in exon IIIc of FGFR2. Am. J. Med. Genet. 107: 43-47, 2002.
[0035759]26347.Tsukuno, M.; Suzuki, H.; Eto, T.: Pfeiffer syndrome caused by haploinsufficient mutation of FGFR2. J. Craniofac. Genet. Dev. Biol. 19: 183-188, 1999.
[0035760]26348.Van Dissel-Emiliani, F. M.; De Boer-Brouwer, M.; De Rooij, D. G.: Effect of fibroblast growth factor-2 on Sertoli cells and gonocytes in coculture during the perinatal period. Endocrinology 137: 647-654, 1996.
[0035761]26349.Vogt, A.: Dyskephalie (dysostosis craniofacialis, maladie De Crouzon 1912) und eine neuartige Kombination dieser Krankheit mit Syndaktylie der 4 Extremitaeten (Dyskephalodaktylie). Klin. Mbl. Augenheilk. 90: 441-454, 1933.
[0035762]26350.Wang, T.-J.; Huang, C.-B.; Tsai, F.-J.; Wu, J.-Y.; Lai, R.-B.; Hsiao, M.: Mutation in the FGFR2 gene in a Taiwanese patient with Beare-Stevenson cutis gyrata syndrome. Clin. Genet. 61: 218-221, 2002.
[0035763]26351.Wilkie, A. O. M.: Abnormal spliceform expression associated with splice acceptor mutations in exon IIIc of FGFR2. (Letter) Am. J. Med. Genet. 111: 105 only, 2002.
[0035764]26352.Wilkie, A. O. M.: Personal Communication. Oxford, U.K. 2/24/1996.
[0035765]26353.Wilkie, A. O. M.; Slaney, S. F.; Oldridge, M.; Poole, M. D.; Ashworth, G. J.; Hockley, A. D.; Hayward, R. D.; David, D. J.; Pulleyn, L. J.; Rutland, P.; Malcolm, S.; Winter, R. M.; Reardon, W.: Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nature Genet. 9: 165-172, 1995.
[0035766]26354.Wong, L.-J. C.; Chen, T.-J.; Dai, P.; Bird, L.; Muenke, M.: Novel SNP at the common primer site of exon IIIa of FGFR2 gene causes error in molecular diagnosis of craniosynostosis syndrome. Am. J. Med. Genet. 102: 282-285, 2001.
[0035767]26355.Xu, X.; Weinstein, M.; Li, C.; Naski, M.; Cohen, R. I.; Ornitz, D. M.; Leder, P.; Deng, C.: Fibroblast growth factor receptor 2 (FGFR2)-mediated reciprocal regulation loop between FGF8 and FGF10 is essential for limb induction. Development 125: 753-765, 1998.
[0035768]26356.Yu, K.; Herr, A. B.; Waksman, G.; Ornitz, D. M.: Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome. Proc. Nat. Acad. Sci. 97: 14536-14541, 2000.
[0035769]26357.Chan, J.; Watt, V. M.: Eek and erk, new members of the eph subclass of receptor protein-tyrosine kinases. Oncogene 6: 1057-1061, 1991.
[0035770]26358.Park, S.; Frisen, J.; Barbacid, M.: Aberrant axonal projections in mice lacking EphA8 (Eek) tyrosine protein kinase receptors. EMBO J. 16: 3106-3114, 1997.
[0035771]26359.Ganju, P.; Shigemoto, K.; Brennan, J.; Entwistle, A.; Reith, A. D.: The Eck receptor tyrosine kinase is implicated in pattern formation during gastrulation, hindbrain segmentation and limb development. Oncogene 9: 1613-1624, 1994.
[0035772]26360.Lindberg, R. A.; Hunter, T.: cDNA cloning and characterization of eck, an epithelial cell receptor-tyrosine kinase in the eph/elk family of protein kinases. Molec. Cell. Biol. 10: 6316-6324, 1990.
[0035773]26361.Sulman, E. P.; Tang, X. X.; Allen, C.; Biegel, J. A.; Pleasure, D. E.; Brodeur, G. M.; Ikegaki, N.: ECK, a human EPH-related gene, maps to 1p36.1, a common region of alteration in human cancers. Genomics 40: 371-374, 1997.
[0035774]26362.Arpaia, E.; Shahar, M.; Dadi, H.; Cohen, A.; Roifman, C. M.: Defective T cell receptor signaling and CD8(+) thymic selection in humans lacking Zap-70 kinase. Cell 76: 947-958, 1994.
[0035775]26363.Chan, A. C.; Iwashima, M.; Turck, C. W.; Weiss, A.: ZAP-70: a 70 kd protein-tyrosine kinase that associates with the TCR zeta chain. Cell 71: 649-662, 1992.
[0035776]26364.Chan, A. C.; Kadlecek, T. A.; Elder, M. E.; Filipovich, A. H.; Kuo, W.-L.; Iwashima, M.; Parslow, T. G.; Weiss, A.: ZAP-70 deficiency in an autosomal recessive form of severe combined immunodeficiency. Science 264: 1559-1601, 1994.
[0035777]26365.Colucci, F.; Schweighoffer, E.; Tomasello, E.; Turner, M.; Ortaldo, J. R.; Vivier, E.; Tybulewicz, V. L. J.; Di Santo, J. P.: Natural cytotoxicity uncoupled from the Syk and ZAP-70 intracellular kinases. Nature Immun. 3: 288-294, 2002.
[0035778]26366.Elder, M. E.; Lin, D.; Clever, J.; Chan, A. C.; Hope, T. J.; Weiss, A.; Parslow, T. G.: Human severe combined immunodeficiency due to a defect in ZAP-70, a T cell tyrosine kinase. Science 264: 1596-1599, 1994.
[0035779]26367.Ku, G.; Malissen, B.; Mattei, M.-G.: Chromosomal location of the Syk and ZAP-70 tyrosine kinase genes in mice and humans. Immunogenetics 40: 300-302, 1994.
[0035780]26368.Roifman, C. M.; Hummel, D.; Martinez-Valdez, H.; Thorner, P.; Doherty, P. J.; Pan, S.; Cohen, F.; Cohen, A.: Depletion of CD8(+) cells in human thymic medulla results in selective immune deficiency. J. Exp. Med. 170: 2177-2182, 1989.
[0035781]26369.Saito, T.; Matsuda, Y.; Ito, H.; Fusaki, N.; Hori, T.; Yamamoto, T.: Localization of Zap70, the gene for a T cell-specific protein tyrosine kinase, to mouse and rat chromosomes by fluorescence in situ hybridization and molecular genetic linkage analyses. Mammalian Genome 8: 45-46, 1997.
[0035782]26370.Toyabe, S.-I.; Watanabe, A.; Harada, W.; Karasawa, T.; Uchiyama, M.: Specific immunoglobulin E responses in ZAP-70-deficient patients are mediated by Syk-dependent T-cell receptor signalling. Immunology 103: 164-171, 2001.
[0035783]26371.Oettinger, M. A.; Stanger, B.; Schatz, D. G.; Glaser, T.; Call, K.; Housman, D.; Baltimore, D.: The recombination activating genes, RAG1 and RAG2, are on chromosome 11p in humans and chromosome 2p in mice. Immunogenetics 35: 97-101, 1992.
[0035784]26372.Roman, C. A. J.; Baltimore, D.: Genetic evidence that the RAG1 protein directly participates in V(D)J recombination through substrate recognition. Proc. Nat. Acad. Sci. 93: 2333-2338, 1996.
[0035785]26373.Santagata, S.; Gomez, C. A.; Sobacchi, C.; Bozzi, F.; Abinun, M.; Pasic, S.; Cortes, P.; Vezzoni, P.; Villa, A.: N-terminal RAG1 frameshift mutations in Omenn's syndrome: internal methionine usage leads to partial V(D)J recombination activity and reveals a fundamental role in vivo for the Nterminal domains. Proc. Nat. Acad. Sci. 97: 14572-14577, 2000.
[0035786]26374.Schatz, D. G.; Oettinger, M. A.; Baltimore, D.: The V(D)J recombination activating gene, RAG-1. Cell 59: 1035-1048, 1989.
[0035787]26375.Schultz, H. Y.; Landree, M. A.; Qiu, J.; Kale, S. B.; Roth, D. B.: Joining-deficient RAG1 mutants block V(D)J recombination in vivo and hairpin opening in vitro. Molec. Cell 7: 65-75, 2001.
[0035788]26376.Schwarz, K.; Gauss, G. H.; Ludwig, L.; Pannicke, U.; Li, Z.; Linder, D.; Friedrich, W.; Seger, R. A.; Hansen-Hagge, T. E.; Desiderio, S.; Lieber, M. R.; Bartram, C. R.: RAG mutations in human B cell-negative SCID. Science 274: 97-99, 1996.
[0035789]26377.Sherrington, P. D.; Forster, A.; Seawright, A.; van Heyningen, V.; Rabbitts, T. H.: Human RAG2, like RAG1, is on chromosome 11 band p13 and therefore not linked to ataxia telangiectasia complementation groups. Genes Chromosomes Cancer 5: 404-406, 1992.
[0035790]26378.Villa, A.; Santagata, S.; Bozzi, F.; Giliani, S.; Frattini, A.; Imberti, L.; Gatta, L. B.; Ochs, H. D.; Schwarz, K.; Notarangelo, L. D.; Vezzoni, P.; Spanopoulou, E.: Partial V(D)J recombination activity leads to Omenn syndrome. Cell 93: 885-896, 1998.
[0035791]26379.Wienholds, E.; Schulte-Merker, S.; Walderich, B.; Plasterk, R. H. A.: Target-selected inactivation of the zebrafish rag1 gene. Science 297: 99-102, 2002.
[0035792]26380.Yu, W.; Misulovin, Z.; Suh, H.; Hardy, R. R.; Jankovic, M.; Yannoutsos, N.; Nussenzweig, M. C.: Coordinate regulation of RAG1 and RAG2 by cell type-specific DNA elements 5-prime of RAG2. Science 285: 1080-1084, 1999.
[0035793]26381.Richard, G.; Brown, N.; Smith, L. E.; Terrinoni, A.; Melino, G.; MacKie, R. M.; Bale, S. J.; Uitto, J.: The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3. Hum. Genet. 106: 321-329, 2000.
[0035794]26382.Levitt, R. C.; Olckers, A.; Meyers, S.; Fletcher, J. E.; Rosenberg, H.; Isaacs, H.; Meyers, D. A.: Evidence for the localization of a malignant hyperthermia susceptibility locus (MHS2) to human chromosome 17q. Genomics 14: 562-566, 1992.
[0035795]26383.Olckers, A.; Meyers, D. A.; Meyers, S.; Taylor, E. W.; Fletcher, J. E.; Rosenberg, H.; Isaacs, H.; Levitt, R. C.: Adult muscle sodium channel alpha-subunit is a gene candidate for malignant hyperthermia susceptibility. Genomics 14: 829-831, 1992.
[0035796]26384.Naim, H. Y.; Sterchi, E. E.; Lentze, M. J.: Structure, biosynthesis, and glycosylation of human small intestinal maltase-glucoamylase. J. Biol. Chem. 263: 19709-19717, 1988.
[0035797]26385.Nichols, B. L.; Eldering, J.; Avery, S.; Hahn, D.; Quaroni, A.; Sterchi, E.: Human small intestinal maltase-glucoamylase cDNA cloning: homology to sucrase-isomaltase. J. Biol. Chem. 273: 3076-3081, 1998.
[0035798]26386.Schuler, G. D.; Boguski, M. S.; Stewart, E. A.; Stein, L. D.; Gyapay, G.; Rice, K.; White, R. E.; Rodriguez-Tome, P.; Aggarwal, A.; Bajorek, E.; Bentolila, S.; Birren, B. B.; Butler, A.; Castle, A. B.; Chiannilkulchai, N.; Chu, A.; Clee, C.; Cowles, S.; Day, P. J. R.; Dibling, T.; and 84 others: A gene map of the human genome. Science 274: 540-546, 1996.
[0035799]26387.Levine, A.; Cantoni, G. L.; Razin, A.: Inhibition of promoter activity by methylation: possible involvement of protein mediators. Proc. Nat. Acad. Sci. 88: 6515-6518, 1991.
[0035800]26388.Nan, X.; Meehan, R. R.; Bird, A.: Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2. Nucleic Acids Res. 21: 4886-4892, 1993.
[0035801]26389.Ohki, I.; Shimotake, N.; Fujita, N.; Jee, J.-G.; Ikegami, T.; Nakao, M.; Shirakawa, M.: Solution structure of the methyl-CpG binding domain of human MBD1 in complex with methylated DNA. Cell 105: 487-497, 2001.
[0035802]26390.Carrera, C. J.; Eddy, R. L.; Shows, T. B.; Carson, D. A.: Assignment of the gene for methylthioadenosine phosphorylase to human chromosome 9 by mouse-human somatic cell hybridization. Proc. Nat. Acad. Sci. 81: 2665-2668, 1984.
[0035803]26391.Chilcote, R. R.; Brown, E.; Rowley, J. D.: Lymphoblastic leukemia with lymphomatous features associated with abnormalities of the short arm of chromosome 9. New Eng. J. Med. 313: 286-291, 1985.
[0035804]26392.Nobori, T.; Takabayashi, K.; Tran, P.; Orvis, L.; Batova, A.; Yu, A. L.; Carson, D. A.: Genomic cloning of methylthioadenosine phosphorylase: a purine metabolic enzyme deficient in multiple different cancers. Proc. Nat. Acad. Sci. 93: 6203-6208, 1996.
[0035805]26393.Olopade, O. I.; Jenkins, R. B.; Ransom, D. T.; Malik, K.; Pomykala, H.; Nobori, T.; Cowan, J. M.; Rowley, J. D.; Diaz, M. O.: Molecular analysis of deletions of the short arm of chromosome 9 in human gliomas. Cancer Res. 52: 2523-2529, 1992.
[0035806]26394.Olopade, O. I.; Pomykala, H. M.; Hagos, F.; Sveen, L. W.; Espinosa, R., III; Dreyling, M. H.; Gursky, S.; Stadler, W. M.; Le Beau, M. M.; Bohlander, S. K.: Construction of a 2.8-megabase yeast artificial chromosome contig and cloning of the human methylthioadenosine phosphorylase gene from the tumor suppressor region on 9p21. Proc. Nat. Acad. Sci. 92: 6489-6493, 1995.
[0035807]26395.Ragione, F. D.; Takabayashi, K.; Mastropietro, S.; Mercurio, C.; Oliva, A.; Russo, G. L.; Pietra, V. D.; Borriello, A.; Nobori, T.; Carson, D. A.; Zappia, V.: Purification and characterization of recombinant human 5-prime-methylthioadenosine phosphorylase: definite identification of coding cDNA. Biochem. Biophys. Res. Commun. 223: 514-519, 1996.
[0035808]26396.Williams-Ashman, H. G.; Seidenfeld, J.; Galletti, P.: Trends in the biochemical pharmacology of 5-prime-deoxy-5-prime-methylthioadenosine. Biochem. Pharm. 31: 277-288, 1982.
[0035809]26397.Kniest, W.: Zur Abgrenzung der Dysostosis enchondralis von der Chondrodystrophie. Z. Kinderheilk. 43: 633-640, 1952.
[0035810]26398.Maumenee, I. H.; Traboulsi, E. I.: The ocular findings in Kniest dysplasia. Am. J. Ophthal. 100: 155-160, 1985.
[0035811]26399.Siggers, D. C.; Rimoin, D. L.; Dorst, J. P.; Doty, S. B.; Williams, B. R.; Hollister, D. W.; Silberberg, R.; Granley, R. E.; Kaufman, R. L.; McKusick, V. A.: The Kniest syndrome. Birth Defects Orig. Art. Ser. 10(9): 193-208, 1974.
[0035812]26400.Spranger, J.; Winterpacht, A.; Zabel, B.: Kniest dysplasia: Dr. W. Kniest, his patient, the molecular defect. Am. J. Med. Genet. 69: 79-84, 1997.
[0035813]26401.Wilkin, D. J.; Artz, A. S.; South, S.; Lachman, R. S.; Rimoin, D. L.; Wilcox, W. R.; McKusick, V. A.; Stratakis, C. A.; Francomano, C. A.; Cohn, D. H.: Small deletions in the type II collagen triple helix produce Kniest dysplasia. Am. J. Med. Genet. 85: 105-112, 1999.
[0035814]26402.Cirullo, R. E.; Wasmuth, J. J.: Assignment of the human gene encoding methionyltRNA synthetase to chromosome 12. (Abstract) Cytogenet. Cell Genet. 37: 437 only, 1984.
[0035815]26403.Cirullo, R. E.; Wasmuth, J. J.: Assignment of the human MARS gene, encoding methioninyl-tRNA synthetase, to chromosome 12 using human x Chinese hamster cell hybrids. Somat. Cell Molec. Genet. 10: 225-234, 1984.
[0035816]26404.Grewal, P. K.; Holzfeind, P. J.; Bittner, R. E.; Hewitt, J. E. : Mutant glycosyltransferase and altered glycosylation of alpha-dystroglycan in the myodystrophy mouse. Nature Genet. 28: 151-154, 2001.
[0035817]26405.Evans, D. G. R.; Huson, S. M.; Donnai, D.; Neary, W.; Blair, V.; Newton, V.; Harris, R.: A clinical study of type 2 neurofibromatosis. Quart. J. Med. 84: 603-618, 1992.
[0035818]26406.Honda, M.; Arai, E.; Sawada, S.; Ohta, A.; Niimura, M.: Neurofibromatosis 2 and neurilemmomatosis gene are identical. J. Invest. Derm. 104: 74-77, 1995.
[0035819]26407.Parry, D. M.; Eldridge, R.; Kaiser-Kupfer, M. I.; Bouzas, E. A.; Pikus, A.; Patronas, N.: Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity. Am. J. Med. Genet. 52: 450-461, 1994.
[0035820]26408.Eddy, R. L.; Kretschmer, P. J.; Fairhurst, J. L.; Shows, T. B.; Bohlen, P.; O'Hara, B.; Kovesdi, I.: A human gene family of neurite outgrowth-promoting proteins: the gene for a heparin binding neurite outgrowth-promoting factor maps to 7q22-qter. (Abstract) Cytogenet. Cell Genet. 58: 1920 only, 1991.
[0035821]26409.Lai, S.; Czubayko, F.; Riegel, A. T.; Wellstein, A.: Structure of the human heparinbinding growth factor gene pleiotrophin. Biochem. Biophys. Res. Commun. 187: 1113-1122, 1992.
[0035822]26410.Li, Y.-S.; Hoffman, R. M.; Le Beau, M. M.; Espinosa, R., III; Jenkins, N. A.; Gilbert, D. J.; Copeland, N. G.; Deuel, T. F.: Characterization of the human pleiotrophin gene: promoter region and chromosomal localization. J. Biol. Chem. 267: 26011-26016, 1992.
[0035823]26411.Li, Y.-S.; Milner, P. G.; Chauhan, A. K.; Watson, M. A.; Hoffman, R. M.; Kodner, C. M.; Milbrandt, J.; Deuel, T. F.: Cloning and expression of a developmentally regulated protein that induces mitogenic and neurite outgrowth activity. Science 250: 1690-1694, 1990.
[0035824]26412.Milner, P. G.; Shah, D.; Veile, R.; Donis-Keller, H.; Kumar, B. V.: Cloning, nucleotide sequence, and chromosome localization of the human pleiotrophin gene. Biochemistry 31: 12023-12028, 1992.
[0035825]26413.Brightbill, H. D.; Libraty, D. H.; Krutzik, S. R.; Yang, R.-B.; Bellsie, J. T.; Bieharski, J. R.; Maitland, M.; Norgard, M. V.; Plevy, S. E.; Smale, S. T.; Brennan, P. J.; Bloom, B. R.; Godowski, P. J.; Modlin, R. L.: Host defense mechanisms triggered by microbial lipoproteins through toll-like receptors. Science 285: 732-736, 1999.
[0035826]26414.Jankovic, D.; Kullberg, M. C.; Hieny, S.; Caspar, P.; Collazo, C. M.; Sher, A.: In the absence of IL-12, CD4+ T cell responses to intracellular pathogens fail to default to a Th2 pattern and are host protective in an IL-10-/- setting. Immunity 16: 429-439, 2002.
[0035827]26415.Jouanguy, E.; Lamhamedi-Cherradi, S.; Altare, F.; Fondaneche, M.-C.; Tuerlinckx, D.; Blanche, S.; Emile, J.-F.; Gaillard, J.-L.; Schreiber, R.; Levin, M.; Fischer, A.; Hivroz, C.; Casanova, J.-L. : Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guerin infection and a sibling with clinical tuberculosis. J. Clin. Invest. 100: 2658-2664, 1997.
[0035828]26416.Warrington, J. A.; Bengtsson, U.: High-resolution physical mapping of human 5q31-q33 using three methods: radiation hybrid mapping, interphase fluorescence in situ hybridization, and pulsed-field gel electrophoresis. Genomics 24: 395-398, 1994.
[0035829]26417.Anderson, S. K.; Gallinger, S.; Roder, J.; Frey, J.; Young, H. A.; Ortaldo, J. R.: A cyclophilin-related protein involved in the function of natural killer cells. Proc. Nat. Acad. Sci. 90: 542-546, 1993.
[0035830]26418.Frey, J. L.; Bino, T.; Kantor, R. R. S.; Segal, D. M.; Giardina, S. L.; Roder, J.; Anderson, S.; Ortaldo, J. R.: Mechanism of target cell recognition by natural killer cells: characterization of a novel triggering molecule restricted to CD3- large granular lymphocytes. J. Exp. Med. 174: 1527-1536, 1991.
[0035831]26419.Rinfret, A.; Anderson, S. K.: IL-2 regulates the expression of the NK-TR gene via an alternate RNA splicing mechanism. Molec. Immun. 30: 1307-1313, 1993.
[0035832]26420.Simons-Evelyn, M.; Young, H. A.; Anderson, S. K.: Characterization of the mouse Nktr gene and promoter. Genomics 40: 94-100, 1997.
[0035833]26421.Young, H. A.; Jenkins, N. A.; Copeland, N. G.; Simek, S.; Lerman, M. I.; Zbar, B.; Glenn, G.; Ortaldo, J. R.; Anderson, S. K.: Localization of a novel natural killer triggering receptor locus to human chromosome 3p23-p21 and mouse chromosome 9. Genomics 16: 548-549, 1993.
[0035834]26422.Scott, I. C.; Halila, R.; Jenkins, J. M.; Mehan, S.; Apostolou, S.; Winqvist, R.; Callen, D. F.; Prockop, D. J.; Peltonen, L.; Kadler, K. E.: Molecular cloning, expression and chromosomal localization of a human gene encoding a 33 kDa putative metallopeptidase (PRSM1). Gene 174: 135-143, 1996.
[0035835]26423.Baldwin, A. S., Jr.: The NF-kappa-B and I-kappa-B proteins: new discoveries and insights. Annu. Rev. Immun. 14: 649-683, 1996.
[0035836]26424.Chen, F.; Castranova, V.; Shi, X.; Demers, L. M.: New insights into the role of nuclear factor-kappa-B, a ubiquitous transcription factor in the initiation of diseases. Clin. Chem. 45: 7-17, 1999.
[0035837]26425.Liptay, S.; Schmid, R. M.; Perkins, N. D.; Meltzer, P.; Altherr, M. R.; McPherson, J. D.; Wasmuth, J. J.; Nabel, G. J.: Related subunits of NF-kappa-B map to two distinct loci associated with translocations in leukemia, NFKB1 and NFKB2. Genomics 13: 287-292, 1992.
[0035838]26426.Mathew, S.; Murty, V. V. V. S.; Dalla-Favera, R.; Chaganti, R. S. K.: Chromosomal localization of genes encoding the transcription factors, c-rel, NF-kappa-Bp50, NF-kappa-Bp65, and lyt-10 by fluorescence in situ hybridization. Oncogene 8: 191-193, 1993.
[0035839]26427.Ozes, O. N.; Mayo, L. D.; Gustin, J. A.; Pfeffer, S. R.; Pfeffer, L. M.; Donner, D. B.: NF-kappa-B activation by tumour necrosis factor requires the Akt serine-threonine kinase. Nature 401: 82-85, 1999.
[0035840]26428.Romashkova, J. A.; Makarov, S. S.: NF-kappa-B is a target of AKT in anti-apoptotic PDGF signalling. Nature 401: 86-90, 1999.
[0035841]26429.Zhong, H.; May, M. J.; Jimi, E.; Ghosh, S.: The phosphorylation status of nuclear NFkappa-B determines its association with CBP/p300 or HDAC-1. Molec. Cell 9: 625-636, 2002.
[0035842]26430.Claudio, E.; Brown, K.; Park, S.; Wang, H.; Siebenlist, U.: BAFF-induced NEMOindependent processing of NF-kappa-B2 in maturing B cells. Nature Immun. 3: 958-965, 2002.
[0035843]26431.Neri, A.; Chang, C.-C.; Lombardi, L.; Salina, M.; Corradini, P.; Maiolo, A. T.; Chaganti, R. S. K.; Dalla-Favera, R.: B cell lymphoma-associated chromosomal translocation involves candidate oncogene lyt-10, homologous to NF-kappa-B p50. Cell 67: 1075-1087, 1991.
[0035844]26432.Adams, B. S.; Leung, K.; Meltzer, P. S.; Lewis, K. A.; Wagner-McPherson, C.; Evans, G. A.; Nabel, G. J.: Localization of the gene encoding R-kappa-B (NFRKB), a tissue-specific DNA binding protein, to chromosome 11q24-q25. Genomics 14: 270-274, 1992.
[0035845]26433.Sanyal, S.; Sandstrom, D. J.; Hoeffer, C. A.; Ramaswami, M.: AP-1 function upstream of CREB to control synaptic plasticity in Drosophila. Nature 416: 870-874, 2002.
[0035846]26434.Arheden, K.; Mandahl, N.; Strombeck, B.; Isaksson, M.; Mitelman, F.: Chromosome localization of the human oncogene INT1 to 12q13 by in situ hybridization. Cytogenet. Cell Genet. 47: 86-87, 1988.
[0035847]26435.Gavin, B. J.; McMahon, J. A.; McMahon, A. P.: Expression of multiple novel Wnt-1/int-1-related genes during fetal and adult mouse development. Genes Dev. 4: 2319-2332, 1990.
[0035848]26436.Kirikoshi, H.; Sekihara, H.; Katoh, M.: WNT10A and WNT6, clustered in human chromosome 2q35 region with head-to-tail manner, are strongly coexpressed in SW480 cells. Biochem. Biophys. Res. Commun. 283: 798-805, 2001.
[0035849]26437.McMahon, A. P.: The Wnt family of developmental regulators. Trends Genet. 8: 236-242, 1992.
[0035850]26438.Nusse, R.; Brown, A.; Papkoff, J.; Scambler, P.; Shackleford, G.; McMahon, A.; Moon, R.; Varmus, H.: A new nomenclature for int-1 and related genes: the Wnt gene family. (Letter) Cell 64: 231-232, 1991.
[0035851]26439.Nusse, R.; van't Veer, L.; Geurts van Kessel, A.; van Agthoven, A.; Bootsma, D.; Varmus, H.: Chromosomal localization of a human homologue of a putative mammary tumor oncogene. (Abstract) Cytogenet. Cell Genet. 37: 556-557, 1984.
[0035852]26440.Pellegrino, J. E.; Lensch, M. W.; Muenke, M.; Chance, P. F.: Clinical and molecular analysis in Joubert syndrome. Am. J. Med. Genet. 72: 59-62, 1997.
[0035853]26441.Thomas, K. R.; Capecchi, M. R.: Targeted disruption of the murine int-1 protooncogene resulting in severe abnormalities in midbrain and cerebellar development. Nature 346: 847-850, 1990.
[0035854]26442.Andrews, J.; Erdjument, H.; Nicholson, D. C.: Hereditary coproporphyria: incidence in a large English family. J. Med. Genet. 21: 341-349, 1984.
[0035855]26443.Barnes, H. D.; Whittaker, N.: Hereditary coproporphyria with acute intermittent manifestations. Brit. Med. J. 2: 1102-1104, 1965.
[0035856]26444.Barohn, R. J.; Sanchez, J. A.; Anderson, K. E.: Acute peripheral neuropathy due to hereditary coproporphyria. Muscle Nerve 17: 793-799, 1994.
[0035857]26445.Berger, H.; Goldberg, A.: Hereditary coproporphyria. Brit. Med. J. 2: 85-88, 1955.
[0035858]26446.Brodie, M. J.; Thompson, G. G.; Moore, M. R.; Beattie, A. D.; Goldberg, A.: Hereditary coproporphyria: demonstration of the abnormalities in haem biosynthesis in peripheral blood. Quart. J. Med. 46: 229-241, 1977.
[0035859]26447.Cacheux, V.; Martasek, P.; Fougerousse, F.; Delfau, M. H.; Druart, L.; Tachdjian, G.; Grandchamp, B.: Localization of the human coproporphyrinogen oxidase gene to chromosome band 3q12. Hum. Genet. 94: 557-559, 1994.
[0035860]26448.Connon, J. J.; Turkington, V.: Hereditary coproporphyria. Lancet II: 263-264, 1968.
[0035861]26449.Cripps, D. J.; Peters, H. A.: Stool porphyrins in acute intermittent and hereditary coproporphyria: adverse effects of tranquilizers. Arch. Neurol. 23: 80-84, 1970.
[0035862]26450.Delfau-Larue, M.-H.; Martasek, P.; Grandchamp, B.: Coproporphyrinogene (sic) oxidase: gene organization and description of a mutation leading to exon 6 skipping. Hum. Molec. Genet. 3: 1325-1330, 1994.
[0035863]26451.Doss, M.; von Tiepermann, R.; Kopp, W.: Harderoporphyrin coproporphyria. (Letter) Lancet I: 292 only, 1984.
[0035864]26452.Elder, G. H.; Evans, J. O.; Thomas, N.; Cox, R.; Brodie, M. J.; Moore, M. R.; Goldberg, A.; Nicholson, D. C.: The primary enzyme defect in hereditary coproporphyria. Lancet II: 1217-1219, 1976.
[0035865]26453.Goldberg, A.; Rimington, C.; Lochhead, A. C.: Hereditary coproporphyria. Lancet I: 632-636, 1967.
[0035866]26454.Grandchamp, B.; Phung, N.; Nordmann, Y.: Homozygous case of hereditary coproporphyria. (Letter) Lancet II: 1348-1349, 1977.
[0035867]26455.Grandchamp, B.; Weil, D.; Nordmann, Y.; Van Cong, N.; de Verneuil, H.; Foubert, C.; Gross, M.-S.: Assignment of the human coproporphyrinogen oxidase to chromosome 9. Hum. Genet. 64: 180-183, 1983.
[0035868]26456.Haeger-Aronsen, B.; Stathers, G.; Swahn, G.: Hereditary coproporphyria: study of a Swedish family. Ann. Intern. Med. 69: 221-227, 1968.
[0035869]26457.Hunter, J. A. A.; Khan, S. A.; Hope, E.; Beattie, A. D.; Beveridge, G. W.; Smith, A. W. M.; Goldberg, A.: Hereditary coproporphyria. Photosensitivity, jaundice and neuropsychiatric manifestations associated with pregnancy. Brit. J. Derm. 84: 301-310, 1971.
[0035870]26458.Kohno, H.; Furukawa, T.; Yoshinaga, T.; Tokunaga, R.; Taketani, S.: Coproporphyrinogen oxidase: purification, molecular cloning, and induction of mRNA during erythroid differentiation. J. Biol. Chem. 268: 21359-21363, 1993.
[0035871]26459.Lamoril, J.; Deybach, J.-C.; Puy, H.; Grandchamp, B.; Nordmann, Y.: Three novel mutations in the coproporphyrinogen oxidase gene. Hum. Mutat. 9: 78-80, 1997.
[0035872]26460.Lamoril, J.; Martasek, P.; Deybach, J.-C.; Da Silva, V.; Grandchamp, B.; Nordmann, Y.: A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria, a variant form of hereditary coproporphyria. Hum. Molec. Genet. 4: 275-278, 1995.
[0035873]26461.Lamoril, J.; Puy, H.; Gouya, L.; Rosipal, R.; Da Silva, V.; Grandchamp, B.; Foint, T.; Bader-Meunier, B.; Dommergues, J. P.; Deybach, J. C.; Nordmann, Y.: Neonatal hemolytic anemia due to inherited harderoporphyria: clinical characteristics and molecular basis. Blood 91: 1453-1457, 1998.
[0035874]26462.Lamoril, J.; Puy, H.; Whatley, S. D.; Martin, C.; Woolf, J. R.; Da Silva, V.; Deybach, J.-C.; Elder, G. H.: Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria. Am. J. Hum. Genet. 68: 1130-1138, 2001.
[0035875]26463.Lomholt, J. C.; With, T. K.: Hereditary coproporphyria: a family with unusually few and mild symptoms. Acta Med. Scand. 186: 83-85, 1969.
[0035876]26464.Martasek, P.; Camadro, J. M.; Delfau-Larue, M.-H.; Dumas, J.-B.; Montagne, J. J.; De Verneuil, H.; Labbe, P.; Grandchamp, B.: Molecular cloning, sequencing, and functional expression of a cDNA encoding human coproporphyrinogen oxidase. Proc. Nat. Acad. Sci. 91: 3024-3028, 1994.
[0035877]26465.Martasek, P.; Nordmann, Y.; Grandchamp, B.: Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms. Hum. Molec. Genet. 3: 477-480, 1994.
[0035878]26466.McIntyre, N.; Pearson, A. J. G.; Allan, D. J.; Craske, S.; West, G. M. L.; Moore, M. R.; Beattie, A. D.; Paxton, J.; Goldberg, A.: Hepatic delta-aminolaevulinic acid synthetase in an attack of hereditary coproporphyria and during remission. Lancet I: 560-564, 1971.
[0035879]26467.Nordmann, Y.; Grandchamp, B.; de Verneuil, H.; Phung, L.; Cartigny, B.; Fontaine, G.: Harderoporphyria: a variant hereditary coproporphyria. J. Clin. Invest. 72: 1139-1149, 1983.
[0035880]26468.Roberts, D. T.; Brodie, M. J.; Moore, M. R.; Thompson, G. G. G.; Goldberg, A.; MacSween, R. N. M.: Hereditary coproporphyria presenting with photosensitivity induced by the contraceptive pill. Brit. J. Derm. 96: 549-554, 1977.
[0035881]26469.Dickinson, D. P.; Zhao, Y.; Thiesse, M.; Siciliano, M. J.: Direct mapping of seven genes encoding human type 2 cystatins to a single site located at 20p11.2. Genomics 24: 172-175, 1994.
[0035882]26470.Gopal Rao, V. V.; Schnittger, S.; Abrahamson, M.; Hansmann, I. : Cystatin-C (CST3), the candidate gene for the hereditary cystatin-C amyloid angiopathy (HCCAA) maps to or close to human chromosome 20p11.22. (Abstract) Cytogenet. Cell Genet. 58: 2029 only, 1991.
[0035883]26471.Saitoh, E.; Kim, H.-S.; Smithies, O.; Maeda, N.: Human cysteine-proteinase inhibitors: nucleotide sequence analysis of three members of the cystatin gene family. Gene 61: 329-338, 1987.
[0035884]26472.Saitoh, E.; Sabatini, L. M.; Eddy, R. L.; Shows, T. B.; Azen, E. A.; Isemura, S.; Sanada, K.: The human cystatin C gene (CST3) is a member of the cystatin gene family which is localized on chromosome 20. Biochem. Biophys. Res. Commun. 162: 1324-1331, 1989.
[0035885]26473.Cruzen, M. E.; Bengtsson, U.; McMahon, J.; Wasmuth, J. J.; Arfin, S. M.: Assignment of the cysteinyl-tRNA synthetase gene (CARS) to 11p15.5. Genomics 15: 692-693, 1993.
[0035886]26474.Takahashi, E.; Hori, T.; O'Connell, P.; Leppert, M.; White, R. : R-banding and nonisotopic in situ hybridization: precise localization of the human type II collagen gene (COL2A1). Hum. Genet. 86: 14-16, 1990.
[0035887]26475.Nebert, D. W.; Gonzalez, F. J.: P450 genes: structure, evolution, and regulation. Annu. Rev. Biochem. 56: 945-993, 1987.
[0035888]26476.Paolini, M.; Cantelli-Forti, G.; Perocco, P.; Pedulli, G. F.; Abdel-Rahman, S. Z.; Legator, M. S.: Co-carcinogenic effect of beta-carotene. (Letter) Nature 398: 760-761, 1999.
[0035889]26477.Espinoza, H.; Cox, C. J.; Semina, E. V.; Amendt, B. A.: A molecular basis for differential developmental anomalies in Axenfeld-Rieger syndrome. Hum. Molec. Genet. 11: 743-753, 2002.
[0035890]26478.Letinic, K.; Zoncu, R.; Rakic, P.: Origin of GABAergic neurons in the human neocortex. Nature 417: 645-649, 2002.
[0035891]26479.McGuinness, T.; Porteus, M. H.; Smiga, S.; Bulfone, A.; Kingsley, C.; Qiu, M.; Liu, J. K.; Long, J. E.; Xu, D.; Rubenstein, J. L. R. : Sequence, organization, and transcription of the Dlx-1 and the Dlx-2 locus. Genomics 35: 473-485, 1996.
[0035892]26480.Ozcelik, T.; Porteus, M. H.; Rubenstein, J. L. R.; Francke, U. : DLX2 (TES1), a homeobox gene of the Distal-less family, assigned to conserved regions on human and mouse chromosomes 2. Genomics 13: 1157-1161, 1992.
[0035893]26481.Porteus, M. H.; Brice, A. E. J.; Bulfone, A.; Usdin, T. B.; Ciaranello, R. D.; Rubenstein, J. L. R.: Isolation and characterization of a library of cDNA clones that are preferentially expressed in the embryonic telencephalon. Molec. Brain Res. 12: 7-22, 1992.
[0035894]26482.Qiu, M.; Bulfone, A.; Martinez, S.; Meneses, J. J.; Shimamura, K.; Pedersen, R. A.; Rubenstein, J. L.: Null mutation of Dlx-2 results in abnormal morphogenesis of proximal first and second branchial arch derivatives and abnormal differentiation in the forebrain. Genes Dev. 9: 2523-2538, 1995.
[0035895]26483.Salvador, J. M.; Hollander, M. C.; Nguyen, A. T.; Kopp, J. B.; Barisoni, L.; Moore, J. K.; Ashwell, J. D.; Fornace, A. J., Jr.: Mice lacking the p53-effector gene Gadd45a develop a lupus-like syndrome. Immunity 16: 499-508, 2002.
[0035896]26484.Takekawa, M.; Saito, H.: A family of stress-inducible GADD45-like proteins mediate activation of the stress-responsive MTK1/MEKK4 MAPKKK. Cell 95: 521-530, 1998.
[0035897]26485.Dhermy, D.; Garbarz, M.; Lecomte, M. C.; Feo, C.; Bournier, O.; Chaveroche, I.; Gautero, H.; Galand, C.; Boivin, P.: Hereditary elliptocytosis: clinical, morphological and biochemical studies of 38 cases. Nouv. Rev. Franc. Hemat. 28: 129-140, 1986.
[0035898]26486.Fairbanks, G.; Steck, T. L.; Wallach, D. F. H.: Electrophoretic analysis of the major polypeptides of the human erythrocyte membrane. Biochemistry 10: 2606-2617, 1971.
[0035899]26487.Feo, C. J.; Fischer, S.; Piau, J. P.; Grange, M. J.; Tchernia, G.: Premiere observation de l'absence d'une proteine de la membrane erythrocytaire (bande 4-1) dans un cas d'anemie elliptocytaire familiale. Nouv. Rev. Franc. Hemat. 22: 315-325, 1980.
[0035900]26488.Fishbein, W. N.; Armbrustmacher, V. W.; Griffin, J. L.; Davis, J. I.; Foster, W. D.: Levels of adenylate deaminase, adenylate kinase, and creatine kinase in frozen human muscle biopsy specimens relative to type1/type2 fiber distribution: evidence for a carrier state of myoadenylate deaminase deficiency. Ann. Neurol. 15: 271-277, 1984.
[0035901]26489.Fishbein, W. N.; Griffin, J. L.; Nagarajan, K.; Winkert, J. W.; Armbrustmacher, V. W.: Immunologic uniqueness of muscle adenylate deaminase (mAD) and genetic transmission of the deficiency state. (Abstract) Clin. Res. 27: 274A only, 1979.
[0035902]26490.Genetta, T.; Morisaki, H.; Morisaki, T.; Holmes, E. W.: A novel bipartite intronic splicing enhancer promotes the inclusion of a mini-exon in the AMP deaminase 1 gene. J. Biol. Chem. 276: 25589-25597, 2001.
[0035903]26491.Kar, N. C.; Pearson, C. M.: Muscle adenylate deaminase deficiency: report of six new cases. Arch. Neurol. 38: 279-281, 1981.
[0035904]26492.Kelemen, J.; Bradley, W. G.; DiMauro, S.: Reply to J. B. Shumate. (Letter) Neurology 33: 1534 only, 1983.
[0035905]26493.Kelemen, J.; Rice, D. R.; Bradley, W. G.; Munsat, T. L.; DiMauro, S.; Hogan, E. L.: Familial myoadenylate deaminase deficiency and exertional myalgia. Neurology 32: 857-863, 1982.
[0035906]26494.Lecky, B. R. F.: Failure of D-ribose in myoadenylate deaminase deficiency. (Letter) Lancet I: 193 only, 1983.
[0035907]26495.Loh, E.; Rebbeck, T. R.; Mahoney, P. D.; DeNofrio, D.; Swain, J. L.; Holmes, E. W.: Common variant in AMPD1 gene predicts improved clinical outcome in patients with heart failure. Circulation 99: 1422-1425, 1999.
[0035908]26496.Morisaki, H.; Higuchi, I.; Abe, M.; Osame, M.; Morisaki, T.: First missense mutations (R388W and R425H) of AMPD1 accompanied with myopathy found in a Japanese patient. Hum. Mutat. 16: 467-472, 2000.
[0035909]26497.Morisaki, H.; Morisaki, T.; Newby, L. K.; Holmes, E. W.: Alternative splicing: a mechanism for phenotypic rescue of a common inherited defect. J. Clin. Invest. 91: 2275-2280, 1993.
[0035910]26498.Morisaki, T.; Gross, M.; Morisaki, H.; Pongratz, D.; Zollner, N.; Holmes, E. W.: Molecular basis of AMP deaminase deficiency in skeletal muscle. Proc. Nat. Acad. Sci. 89: 6457-6461, 1992.
[0035911]26499.Morisaki, T.; Sabina, R. L.; Holmes, E. W.: Adenylate deaminase: a multigene family in humans and rats. J. Biol. Chem. 265: 11482-11486, 1990.
[0035912]26500.Morton, C. C.; Eddy, R. L.; Shows, T. B.; Clark, P. R. H.; Sabina, R. L.; Holmes, E. W.: Human AMP deaminase-1 gene (AMPD1) is mapped to chromosome 1. (Abstract) Cytogenet. Cell Genet. 51: 1048-1049, 1989.
[0035913]26501.Moseley, W. S.; Morisaki, T.; Sabina, R. L.; Holmes, E. W.; Seldin, M. F.: Ampd-2 maps to distal mouse chromosome 3 in linkage with Ampd-1. Genomics 6: 572-574, 1990.
[0035914]26502.Sabina, R. L.; Morisaki, T.; Clarke, P.; Eddy, R.; Shows, T. B.; Morton, C. C.; Holmes, E. W.: Characterization of the human and rat myoadenylate deaminase genes. J. Biol. Chem. 265: 9423-9433, 1990.
[0035915]26503.Sabina, R. L.; Ogasawara, N.; Holmes, E. W.: Expression of three stage-specific transcripts of AMP deaminase during myogenesis. Molec. Cell. Biol. 9: 2244-2246, 1989.
[0035916]26504.Sabina, R. L.; Swain, J. L.; Olanow, C. W.; Bradley, W. G.; Fishbein, W. N.; DiMauro, S.; Holmes, E. W.: Myoadenylate deaminase deficiency: functional and metabolic abnormalities associated with disruption of the purine nucleotide cycle. J. Clin. Invest. 73: 720-730, 1984.
[0035917]26505.Sabina, R. L.; Swain, J. L.; Patten, B. M.; Ashizawa, T.; O'Brien, W. E.; Holmes, E. W.: Disruption of the purine nucleotide cycle: a potential explanation for muscle dysfunction in myoadenylate deaminase deficiency. J. Clin. Invest. 66: 1419-1423, 1980.
[0035918]26506.Shumate, J. B.: Myoadenylate deaminase deficiency--a nonfamilial, nondisease? (Letter) Neurology 33: 1533-1534, 1983.
[0035919]26507.Shumate, J. B.; Kaiser, K. K.; Carroll, J. E.; Brooke, M. H.: Adenylate deaminase deficiency in a hypotonic infant. J. Pediat. 96: 885-887, 1980.
[0035920]26508.Sinkeler, S. P. T.; Joosten, E. M. G.; Wevers, R. A.; Oei, T. L.; Jacobs, A. E. M.; Veerkamp, J. H.; Hamel, B. C. J.: Myoadenylate deaminase deficiency: a clinical, genetic, and biochemical study in nine families. Muscle Nerve 11: 312-317, 1988.
[0035921]26509.Valen, P. A.; Nakayama, D. A.; Veum, J.; Sulaiman, A. R.; Wortmann, R. L.: Myoadenylate deaminase deficiency and forearm ischemic exercise testing. Arthritis Rheum. 30: 661-668, 1987.
[0035922]26510.van den Berghe, G.; Hers, H. G.: Abnormal AMP deaminase in primary gout. (Letter) Lancet II: 1090 only, 1980.
[0035923]26511.Eddy, R. L.; Mahnke-Zizelman, D. K.; Bausch-Jurken, M. T.; Sabina, R. L.; Shows, T. B.: Distribution of the AMP deaminase multigene family within the human genome: assignment of the AMPD2 to chromosome 1p21-p34 and AMPD3 to chromosome 11p13-pter. (Abstract) Human Genome Mapping Workshop 93 24 only, 1993.
[0035924]26512.Ogasawara, N.; Goto, H.; Yamada, Y.; Nishigaki, I.; Itoh, T.; Hasegawa, I.; Park, K. S.: Deficiency of AMP deaminase in erythrocytes. Hum. Genet. 75: 15-18, 1987.
[0035925]26513.Sermsuvitayawong, K.; Wang, X.; Nagabukuro, A.; Matsuda, Y.; Morisaki, H.; Toyama, K.; Mukai, T.; Morisaki, T.: Genomic organization of Ampd3, heart-type AMPD gene, located in mouse chromosome 7. Mammalian Genome 8: 767-769, 1997.
[0035926]26514.Yamada, Y.; Goto, H.; Ogasawara, N.: Cloning and nucleotide sequence of the cDNA encoding human erythrocyte-specific AMP deaminase. Biochim. Biophys. Acta 1171: 125-128, 1992.
[0035927]26515.Yamada, Y.; Goto, H.; Ogasawara, N.: A point mutation responsible for human erythrocyte AMP deaminase deficiency. Hum. Molec. Genet. 3: 331-334, 1994.
[0035928]26516.Allegrucci, C.; Liguori, L.; Mezzasoma, I.; Minelli, A.: A1 adenosine receptor in human spermatozoa: its role in the fertilization process. Molec. Genet. Metab. 71: 381-386, 2000.
[0035929]26517.Bennhold, H.; Peters, H.; Roth, E.: Ueber einen Fall von kompletter Analbuminaemie ohne wesentliche klinische Krankheitszeichen. Verh. Dtsch. Ges. Inn. Med. 60: 630-634, 1954.
[0035930]26518.Blumberg, B. S.; Martin, J. R.; Melartin, L.: Alloalbuminemia: albumin Naskapi in Indians of the Ungava. J.A.M.A. 203: 180-185, 1968.
[0035931]26519.Boman, H.; Hermodson, M.; Hammond, C. A.; Motulsky, A. G.: Analbuminemia in an American Indian girl. Clin. Genet. 9: 513-526, 1976.
[0035932]26520.Brennan, S. O.: The molecular abnormality of albumin Parklands: 365 asp-to-his. Biochim. Biophys. Acta 830: 320-324, 1985.
[0035933]26521.Brennan, S. O.; Arai, K.; Madison, J.; Laurell, C.-B.; Galliano, M.; Watkins, S.; Peach, R.; Myles, T.; George, P.; Putnam, F. W.: Hypermutability of CpG dinucleotides in the propeptideencoding sequence of the human albumin gene. Proc. Nat. Acad. Sci. 87: 3909-3913, 1990.
[0035934]26522.Brennan, S. O.; Carrell, R. W.: A circulating variant of human proalbumin. Nature 274: 908-909, 1978.
[0035935]26523.Brennan, S. O.; Fellowes, A. P.: Albumin Hawkes Bay; a low level variant caused by loss of a sulphydryl group at position 177. Biochim. Biophys. Acta 1182: 46-50, 1993.
[0035936]26524.Brennan, S. O.; Herbert, P.: Albumin Canterbury (313 lys-to-asn): a point mutation in the second domain of serum albumin. Biochim. Biophys. Acta 912: 191-197, 1987.
[0035937]26525.Brennan, S. O.; Myles, T.; Peach, R. J.; Donaldson, D.; George, P. M.: Albumin Redhill (-1 arg, ala320-to-thr): a glycoprotein variant of human serum albumin whose precursor has an aberrant signal peptidase cleavage site. Proc. Nat. Acad. Sci. 87: 26-30, 1990.
[0035938]26526.Campagnoli, M.; Rossi, A.; Palmqvist, L.; Flisberg, A.; Niklasson, A.; Minchotti, L.; Galliano, M.: A novel splicing mutation causes an undescribed type of analbuminemia. Biochim. Biophys. Acta 1586: 43-49, 2002.
[0035939]26527.Carlson, J.; Sakamoto, Y.; Laurell, C.-B.; Madison, J.; Watkins, S.; Putnam, F. W.: Alloalbuminemia in Sweden: structural study and phenotypic distribution of nine albumin variants. Proc. Nat. Acad. Sci. 89: 8225-8229, 1992.
[0035940]26528.Cormode, E. J.; Lyster, D. M.; Israels, S.: Analbuminemia in a neonate. J. Pediat. 86: 862-867, 1975.
[0035941]26529.Dammacco, F.; Miglietta, A.; D'Addabbo, A.; Fratello, A.; Moschetta, R.; Bonomo, L.: Analbuminemia: report of a case and review of the literature. Vox Sang. 39: 153-161, 1980.
[0035942]26530.Darlington, G.: Personal Communication. New Haven, Conn. and New York, N. Y. 9/17/1974.
[0035943]26531.Darlington, G. J.; Bernhard, H. P.; Ruddle, F. H.: Human serum albumin phenotype activation in mouse hepatoma-human leukocyte cell hybrids. Science 185: 859-862, 1974.
[0035944]26532.Dayhoff, M. O.: Serum albumin. Atlas of Protein Sequence and Structure. Washington, D. C.: National Biomedical Research Foundation (pub.) 5: 1972. Pp. D316.
[0035945]26533.DeCosimo, D. R.; Fang, S.-L.; Braverman, L. E.: Prevalence of familial dysalbuminemic hyperthyroxinemia in Hispanics. (Letter) Ann. Intern. Med. 107: 780-781, 1987.
[0035946]26534.Dugaiczyk, A.: Personal Communication. Riverside, Calif. 4/29/1989.
[0035947]26535.Dugaiczyk, A.; Law, S. W.; Dennison, O. E.: Nucleotide sequence and the encoded amino acids of human serum albumin mRNA. Proc. Nat. Acad. Sci. 79: 71-75, 1982.
[0035948]26536.Earle, D. P.; Hutt, M. P.; Schmid, K.; Gitlin, D.: Observations on double albumin: a genetically transmitted serum protein anomaly. J. Clin. Invest. 38: 1412-1420, 1959.
[0035949]26537.Efremov, G. D.; Braend, M.: Serum albumin: polymorphism in man. Science 146: 1679-1680, 1964.
[0035950]26538.Esumi, H.; Okui, M.; Sato, S.; Sugimura, T.; Nagase, S.: Absence of albumin mRNA in the liver of analbuminemic rats. Proc. Nat. Acad. Sci. 77: 3215-3219, 1980.
[0035951]26539.Esumi, H.; Takahashi, Y.; Sato, S.; Nagase, S.; Sugimura, T.: A seven-base-pair deletion in an intron of the albumin gene of analbuminemic rats. Proc. Nat. Acad. Sci. 80: 95-99, 1983.
[0035952]26540.Esumi, H.; Takahashi, Y.; Sekiya, T.; Sato, S.; Nagase, S.; Sugimura, T.: Presence of albumin mRNA precursors in nuclei of analbuminemic rat liver lacking cytoplasmic albumin mRNA. Proc. Nat. Acad. Sci. 79: 734-738, 1982.
[0035953]26541.Fine, J. M.; Abdo, Y.; Rochu, D.; Rousseaux, J.; Dautrevaux, M. : Identification of the human albumin variant 'Gainesville' with proalbumin 'Christchurch'. Blood Transf. Immunohemat. 26: 341-346, 1983.
[0035954]26542.Fine, J. M.; Marneux, M.; Rochu, D.: Human albumin genetic variants: an attempt at a classification of European allotypes. Am. J. Hum. Genet. 40: 278-286, 1987.
[0035955]26543.Franklin, S. G.; Wolf, S. I.; Ozdemir, Y.; Yuregir, G. T.; Isbir, T.; Blumberg, B. S.: Albumin Naskapi variant in North American Indians and Eti Turks. Proc. Nat. Acad. Sci. 77: 5480-5482, 1980.
[0035956]26544.Franklin, S. G.; Wolf, S. I.; Zweidler, A.; Blumberg, B. S.: Localization of the amino acid substitution site in a new variant of human serum albumin, albumin Mexico-2. Proc. Nat. Acad. Sci. 77: 2505-2509, 1980.
[0035957]26545.Fraser, G. R.; Harris, H.; Robson, E. B.: A new genetically determined plasma-protein in man. Lancet I: 1023-1024, 1959.
[0035958]26546.Galliano, M.; Minchiotti, L.; Ferri, G.; Iadarola, P.; Zapponi, M. C.; Fine, J. M.: Structural characterization of the human albumin variant 'Pollibauer'. Blood Transf. Immunohemat. 27: 597-602, 1984.
[0035959]26547.Galliano, M.; Minchiotti, L.; Iadarola, P.; Ferri, G.; Zapponi, M. C.; Castellani, A. A.: The amino acid substitution in albumin Roma: 321 glu-to-lys. FEBS Lett. 233: 100-104, 1988.
[0035960]26548.Galliano, M.; Minchiotti, L.; Iadarola, P.; Porta, F.; Stoppini, M.; Zapponi, M. C.; Ferri, G.; Castellani, A. A.: Genetic variants of human serum albumin. Prog. Med. Lab. 2: 475-477, 1988.
[0035961]26549.Galliano, M.; Minchiotti, L.; Iadarola, P.; Stoppini, M.; Giagnoni, P.; Watkins, S.; Madison, J.; Putnam, F. W.: Protein and DNA sequence analysis of a 'private' genetic variant: albumin Ortonovo (glu505-to-lys). Biochim. Biophys. Acta 1225: 27-32, 1993.
[0035962]26550.Galliano, M.; Minchiotti, L.; Iadarola, P.; Zapponi, M. C.; Ferri, G.; Castellani, A. A.: Structural characterization of a chain termination mutant of human serum albumin. J. Biol. Chem. 261: 4283-4287, 1986.
[0035963]26551.Galliano, M.; Minchiotti, L.; Porta, F.; Rossi, A.; Ferri, G.; Madison, J.; Watkins, S.; Putnam, F. W.: Mutations in genetic variants of human serum albumin found in Italy. Proc. Nat. Acad. Sci. 87: 8721-8725, 1990.
[0035964]26552.Galliano, M.; Minchiotti, L.; Stoppini, M.; Tarnoky, A. L.: A new proalbumin variant: albumin Jaffna (-1 arg-to-leu). FEBS Lett. 255: 295-299, 1989.



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